Introduction

The following exercise is a case study of a 7-year-old boy (‘Jarrod’) with developmental phonological disorder who was studied by Holm and Crosbie (Reference Holm and Crosbie2006). Jarrod is a monolingual, Australian English-speaking child. His phonological impairment is severe in nature. The case study is presented in five sections: primer on developmental phonological disorder; client background; medical, developmental and educational history; speech, language and cognitive evaluation; and focus on articulation and phonology.

Primer on developmental phonological disorder

Developmental phonological disorder (DPD) is a type of speech sound disorder. The American Speech-Language-Hearing Association (2015) states that:

The phonological impairment in DPD can compromise speaker intelligibility to varying degrees, with some children so severely affected that they are completely unintelligible to all but the most familiar listeners. DPD exists in the absence of a known aetiology. So while children with hearing loss, craniofacial anomalies (e.g. cleft lip and palate), neurological damage and intellectual disability in the presence of syndromes (e.g. Down's syndrome) can also have problems with the production of speech sounds, their speech sound disorder has an identifiable organic aetiology which differs from the functional or unknown aetiology of DPD.

The prevalence of DPD and speech sound disorders varies according to different investigations. In a study of 1,494 4-year-old Australian children, Eadie et al. (Reference Eadie, Morgan, Ukoumunne, Ttofari, Wake and Reilly2015) reported that the prevalence of idiopathic speech sound disorder was 3.4%. McKinnon et al. (Reference McKinnon, McLeod and Reilly2007) obtained a lower prevalence of speech sound disorder, 1.06%, in a study of 10,425 primary school students in Australia. In the United States, Shriberg et al. (Reference Shriberg, Tomblin and McSweeny1999) estimated the prevalence of speech delay (a type of speech sound disorder) to be 3.8% in 1,328 monolingual English-speaking 6-year-old children. A consistent finding across all studies is that many more boys than girls develop speech sound disorders. Shriberg et al. reported that speech delay was approximately 1.5 times more prevalent in the boys (4.5%) than in the girls (3.1%) in their study. Children with speech sound disorders often have comorbid conditions such as reading disability and language impairment. In their sample of 1,494 Australian children, Eadie et al. (Reference Eadie, Morgan, Ukoumunne, Ttofari, Wake and Reilly2015) reported that comorbidity with speech sound disorder was 40.8% for language disorder and 20.8% for poor pre-literacy skills. Sices et al. (Reference Sices, Taylor, Freebairn, Hansen and Lewis2007) reported that 53% of 125 children aged 3 to 6 years with moderate to severe speech sound disorder had comorbid language impairment.

Speech errors in children with speech sound disorders have been extensively investigated. McLeod et al. (Reference McLeod, Harrison, McAllister and McCormack2013) analysed the speech features of 143 children aged 4 to 5 years who were assessed following parent/teacher concern regarding their speech skills. A standard score below the normal range for the percentage of consonants correct on the Diagnostic Evaluation of Articulation and Phonology (Dodd et al., Reference Dodd, Hua, Crosbie, Holm and Ozanne2002) was obtained by 86.7% of children. Consonants produced incorrectly were consistent with the late eight phonemes. Common phonological patterns in these children were fricative simplification (82.5%), cluster simplification (49.0%) and cluster reduction (19.6%), gliding (41.3%) and palatal fronting (15.4%). Interdental lisps on /s/ and /z/ were produced by 39.9% of children, while dentalisation of other sibilants and lateral lisps were identified in 17.5% and 13.3% of children, respectively.

Client background

Jarrod was born in New Zealand but moved to Australia at 2 years of age. He lives with his mother and 10-year-old sister. He sees his father regularly. His mother has a partner, with whom Jarrod does not have a close relationship. Jarrod has regular contact with extended family members. English is the only language spoken at home. Jarrod's mother works part-time as a bookkeeper, and his father is a full-time builder. Jarrod's father had a speech disorder as a child, and attended speech therapy. He still produces some speech errors. His maternal grandfather has a history of dyslexia. Jarrod's sister has bilateral integration problems, in that she struggles to integrate information from the left and right side of the brain.

Jarrod is described by his mother as being a happy, healthy boy who has a good sense of humour. His mother reports him as enjoying a number of activities – playing with his friends and on the computer, watching television and movies. She believes his speech problems have held him back but that he has still been able to forge friendships. For example, he plays with other children in the neighbourhood, and attends other children's parties. Jarrod's teacher also acknowledges that he has friends and that he participates happily in classroom activities. However, she says that he does not have particularly good social interactions. This is reflected in a report written by his teacher about an Intensive Language Class that Jarrod attends. Jarrod was described as having ‘poor social skills as a result of poor communication skills’. The report also noted that Jarrod was aware of his communication problems and was sensitive about them. Jarrod has been teased by other children about his speech difficulties.

Within a known conversational context, Jarrod's mother and teacher could usually understand him. However, without context he was difficult to understand, and unfamiliar listeners, his mother reported, did not understand him. Jarrod did not get frustrated when he was not understood. He readily repeated himself or reformulated his message and would use gesture and drawings to help understanding. Despite his problems, he was not inhibited about communicating. For example, he was willing to address the school at assembly, even though he was not understood, and he answered questions in class and participated in group discussions.

Medical, developmental and educational history

Jarrod's mother had an uneventful pregnancy and labour. Jarrod was born full-term and had an average birth weight. With the exception of ‘clicky’ hips, no other medical condition was identified at birth. Jarrod was breastfed for 6 months, and had no feeding difficulties. His gross motor development milestones were normally achieved. However, an occupational therapy assessment revealed some fine motor difficulties, although his writing abilities were good for his age. At 15 months, Jarrod was diagnosed with asthma, for which he has been using a Ventolin and Flexotide nebuliser. He has been hospitalised twice for the treatment of asthma. Jarrod has also been diagnosed with attention deficit hyperactivity disorder (ADHD) and has been taking Ritalin for approximately two months. Jarrod's mother and teacher report an improvement in his attention with this medication. At 2 and 4 years of age, Jarrod had grommets inserted for the treatment of otitis media. At 4;1 years, his hearing was tested and was judged to be adequate for the development of speech and language. Jarrod's mother and teacher have not reported any ongoing hearing difficulties.

Jarrod attended preschool. During the year in which he turned five, he was enrolled in a Special Education Development Unit. He attended a mainstream class the following year. When he was assessed for this study, he was enrolled in an Intensive Language Class of children with identified communication problems. The teacher of this class prepared a report on Jarrod at the end of the school year. Her comments identified several areas in which Jarrod had improved: organisational skills; self-esteem; attention; and fine motor skills. Jarrod had also developed a good understanding of the role of phonics and could recognise phonic sounds in isolation. He displayed a fair understanding of mathematical processes and was reported to enjoy mathematical activities. However, he had significant difficulties with reading and displayed reversal problems in both letters and numbers. The teacher remarked that Jarrod had a good sense of humour, enjoyed coming to school and liked narrative activities (listening to stories and engaging in retell).

Speech, language and cognitive evaluation

Jarrod was extensively evaluated. A wide range of assessments was used: seven speech assessments; an oromotor assessment; three psycholinguistic assessment tasks; three phonemic awareness assessments; an assessment of activity and participation; and an assessment of non-verbal cognitive abilities. Several of these assessments and their results are described below.

Focus on articulation and phonology

Jarrod's single-word productions on the articulation subtest of the Diagnostic Evaluation of Articulation and Phonology (Dodd et al., Reference Dodd, Hua, Crosbie, Holm and Ozanne2002) underwent phonetic transcription. The phonemic targets are for the pronunciation of Australian English. Where symbols have superscript, it represents an impression that a sound or sound sequence is either epenthetic or a transition between sounds. Short extracts of Jarrod's connected speech are transcribed below the table.

Introduction

The following exercise is a case study of a 7-year-old girl (‘D’) with phonological disorder who was studied by Yavaş and Hernandorena (Reference Yavaş and Hernandorena1991). D is a monolingual, Portuguese-speaking child who comes from the city of Pelotas in the southern state of Rio Grande do Sul in Brazil. The case study is presented in five sections: primer on phonological disorder in languages other than English; client history; speech evaluation; focus on systematic sound preference; and assessment issues.

Primer on phonological disorder in languages other than English

The majority of research which has been conducted into phonological disorder has been based on English-speaking children. It is important, however, to consider if features of phonological disorder in English are also found in children who speak other languages. This has implications not only for theories of language acquisition, but also for the assessment and treatment of children with phonological disorders. Recently, investigators have begun to examine phonological disorder in a range of European and non-European languages including Spanish (Goldstein et al., Reference Goldstein, Fabiano and Iglesias2004), French (Brosseau-Lapré and Rvachew, Reference Brosseau-Lapré and Rvachew2014), German (Fox and Dodd, Reference Fox and Dodd2001), Putonghua (Modern Standard Chinese) (Hua and Dodd, Reference Hua and Dodd2000), Arabic (Bader, Reference Bader2009), Hebrew (Ben-David et al., Reference Ben-David, Ezrati and Stulman2010) and Turkish (Topbaş, Reference Topbaş2006). Some of these investigations have revealed that features of phonological disorder in English are also found in other languages. For example, Hua and Dodd (Reference Hua and Dodd2000) examined the phonological systems of 33 Putonghua-speaking children with speech disorder. These children displayed the characteristics of phonologically disordered children who speak other languages, such as persisting delayed processes, unusual error patterns, variability, restricted phonetic or phonemic inventory, and systematic sound or syllable preference.

Other investigations have highlighted language-specific features of phonological disorder. Brosseau-Lapré and Rvachew (Reference Brosseau-Lapré and Rvachew2014) calculated feature-match ratios for the production of target consonants in English- and French-speaking children with phonological disorder. They found that French-speaking children had significantly lower match ratios for the sound class features [+ consonantal], [+ sonorant] and [+ voice]. French-speaking children produced more syllable structure errors, followed by segment errors and a few distortion errors, while English-speaking children made more segment than syllable structure and distortion errors. Brosseau-Lapré and Rvachew concluded that the results ‘highlight the need to use test instruments with French-speaking children that reflect the phonological characteristics of French at multiple levels of the phonological hierarchy’ (98). Topbaş (Reference Topbaş2006) examined the phonological systems of 70 phonologically disordered, Turkish-speaking children aged 4;0 to 8;0 years. They found that while the stopping of affricates is a common developmental pattern in English, the stopping of fricatives, especially /s/ and /z/, was the more common developmental pattern in Turkish. This reflects the fact that affricates are acquired earlier than fricatives in Turkish. Topbaş stated that ‘it can be inferred that the most frequent error patterns are dependent on the phonological structure of the language. Although universal tendencies exist, the ambient language effect is apparent in all languages’ (520).

Client history

D is a 7-year-old, Portuguese-speaking, Brazilian girl. She is monolingual. Her physical development was normal. She has a normally functioning oral mechanism and normal hearing. There is no evidence of neurological problems relevant to speech production. D is a very extroverted and cooperative child.

Speech evaluation

D's speech was extensively evaluated. She produced spontaneous descriptions of thematic pictures. From these descriptions, a sample of 210 words was obtained for analysis. This sample did not contain imitated responses. Some of D's single-word productions are shown below along with their phonemic norms.

Focus on systematic sound preference

A different interpretation of the substitutions examined in the above data is that D is making use of a systematic sound preference. Clinical phonologists have long considered systematic sound preference to be evidence of disordered phonology (e.g. Grunwell, Reference Grunwell1985). Yavaş and Hernandorena (Reference Yavaş and Hernandorena1991) stated that ‘[a] case of systematic sound preference is in evidence when a group of sounds with the same manner of articulation is represented by one or two sounds in the production of the child’ (79). Fricatives are the focus of D's systematic sound preference. In percentage terms, D replaced 89.3% of fricatives with [t] and [d]. She replaced the remaining 10.7% of fricatives, all /ʃ/ and /ʒ/ targets, with the affricates [ʧ, ʤ], respectively. This level of fricative substitution, Yavaş and Hernandorena argue, well exceeds the minimum proposed by Weiner (Reference Weiner1981) of 70% occurrence of all the possibilities where one or two sounds could replace a class of sounds. D's substitutions thus qualify as a systematic sound preference.

Assessment issues

D's systematic sound preference was apparent because Yavaş and Hernandorena undertook a detailed phonological analysis of her speech. In English, such an analysis is generally performed through the use of standardised phonological assessments such as the Diagnostic Evaluation of Articulation and Phonology (DEAP; Dodd et al., Reference Dodd, Hua, Crosbie, Holm and Ozanne2006) and the Hodson Assessment of Phonological Patterns – 3rd edn (HAPP-3; Hodson, Reference Hodson2004). These assessments permit speech-language pathologists to examine target sounds in all word positions and to compare the performance of a child to his or her peers. Their reliability and validity make them the mainstay of phonological assessment. Their ease of clinical administration has also guaranteed these assessments a place in the SLP's toolkit – the DEAP, for example, is individually administered and involves a 5-minute Diagnostic Screen and up to four specific assessments. The results of these assessments can be used to plan phonological intervention in child clients. For example, the HAPP-3 manual includes a chapter about phonological intervention principles and procedures. These standardised phonological assessments may be supplemented by informal techniques, such as the recording and transcription of spontaneous speech during conversation or narrative production tasks.

The ready availability of phonological assessments in English is very far removed from the situation found in other languages. In languages other than English there is a dearth of such assessments. One reason for this lack of assessment development is the limited availability of phonological norms in other languages. Da Silva et al. (Reference Da Silva, Ferrante, Van Borsel and de Britto Pereira2012) state that ‘[f]or many languages there is still a lack of norms and adequate assessments to assess phonological development in children suspected of having a disorder’ (249). This situation has adverse implications not only for the phonological assessment of monolingual speakers of other languages with phonological disorder, but also for the assessment of bilingual and multilingual speakers with speech sound disorder. In a survey of 333 speech-language pathologists who worked with children with speech sound disorder, Skahan et al. (Reference Skahan, Watson and Lof2007) reported that most respondents used English-only standardised tests when evaluating non-native English speakers. In a survey of 231 Australian speech-language pathologists, McLeod and Baker (Reference McLeod and Baker2014) found that when assessing multilingual children with speech sound disorder, informal assessment procedures and English-only tests were commonly used, with SLPs relying on family members or interpreters to assist. Normative data on the phonologies of languages other than English, including Swahili (Gangji et al., Reference Gangji, Pascoe and Smouse2015) and Brazilian Portuguese (da Silva et al., Reference Da Silva, Ferrante, Van Borsel and de Britto Pereira2012), are beginning to emerge. The result has been the recent standardisation of tests for the assessment of phonology in a number of languages (e.g. Lousada et al. (Reference Lousada, Mendes, Valente and Hall2012) for European Portuguese).

Introduction

The following exercise is a case study of a boy (‘DF’) with specific language impairment who was studied by Tompkins and Farrar (Reference Tompkins and Farrar2011). DF was recruited from a speech and hearing centre preschool programme in Florida which admitted children who qualified for language services. The case study is presented in five sections: primer on specific language impairment; client history and cognitive-linguistic profile; focus on narrative production; focus on maternal language in SLI; and impact and outcomes in SLI.

Primer on specific language impairment

Specific language impairment (SLI) is a specific developmental disorder. As its name suggests, the disorder is specific to language, with other domains of development (motor, cognitive, etc.) proceeding along normal lines. (SLI is to be distinguished from a pervasive developmental disorder such as autism spectrum disorder in which several domains of development are compromised.) Children with SLI have an impairment of language in the absence of conditions that are normally associated with language disorders. These conditions include hearing loss, intellectual disability, sensory impairments, neurological impairment and emotional disturbance. Notwithstanding the absence of these conditions, children with SLI present with a severe disorder of language which can persist into adulthood, and which has serious consequences for the academic achievement, and social and occupational functioning of affected individuals (Whitehouse et al., Reference Whitehouse, Watt, Line and Bishop2009a, Reference Whitehouse, Line, Watt and Bishop2009b).

The prevalence of SLI has been investigated in several studies. There has been considerable variation in the figures reported by investigators. Tomblin et al. (Reference Tomblin, Records, Buckwalter, Zhang, Smith and O'Brien1997) estimated the prevalence of SLI in a population of monolingual English-speaking kindergarten children in the United States to be 7.4%. A much lower prevalence figure of less than 1% was reported by Hannus et al. (Reference Hannus, Kauppila and Launonen2009) in a study of SLI in Finnish children aged 0 to 6 years. Reilly et al. (Reference Reilly, Wake, Ukoumunne, Bavin, Prior, Cini, Conway, Eadie and Bretherton2010) reported that 251 (17.2%) of 1,462 4-year-old Australian children met criteria for SLI. The prevalence of SLI is higher in boys than in girls and in certain special populations. Tomblin et al. reported the prevalence of SLI in the boys and girls in their study to be 8% and 6%, respectively. In a study of 147 pupils attending language resource units, Archibald and Gathercole (Reference Archibald and Gathercole2006) reported the prevalence of SLI to be 13%, with receptive–expressive SLI and expressive-only SLI accounting for 13% and 10% of the sample, respectively.

Language in SLI can be disrupted at several levels including phonology, morphology, syntax and semantics. Aguilar-Mediavilla et al. (Reference Aguilar-Mediavilla, Sanz-Torrent and Serra-Raventos2002) examined the phonology of 3-year-old children with SLI. They found that these children used more syllabic and non-syllabic cluster reduction and initial and final consonant deletions than age controls. Children with SLI also deleted medial consonants significantly more often than age controls and deleted unstressed syllables in initial position significantly more than control subjects. Grammatical morphology is an area of difficulty for children with SLI, with regular past tense –ed, regular third-person singular –s and copula/auxiliary ‘be’ forms used less frequently by these children than by control subjects. Complex syntax such as the comprehension and production of relative clauses and complement clauses is also impaired. (The reader is referred to Ellis Weismer (Reference Ellis Weismer and Cummings2014) for further discussion of grammatical morphology and complex syntax in SLI.) Lexical semantic deficits are also evident in SLI. Children with SLI produce more naming errors than normally developing children (McGregor et al., Reference McGregor, Newman, Reilly and Capone2002), and have weak receptive vocabulary as measured by word–picture matching (Laws et al., Reference Laws, Briscoe, Ang, Brown, Hermena and Kapikian2015). Pragmatic deficits have also been reported in SLI (see Cummings (Reference Cummings2009, Reference Cummings and Cummings2014a, Reference Cummings2014b) for discussion). When these deficits are severe or the predominant language deficit, children are diagnosed with a subtype of SLI called pragmatic language impairment.

Client history and cognitive-linguistic profile

Before DF was recruited to the study, his file was reviewed. DF came from an English-speaking, middle-class family. His mother had 16 years of education. DF had passed hearing screenings and had no previous medical conditions that might account for his language problems.

DF's language skills were assessed using the Structured Photographic Expressive Language Test 3 (SPELT-3; Dawson et al., Reference Dawson, Stout and Eyer2003). DF achieved a score of 72 on this assessment, which placed him below the age of four according to the SPELT age equivalency scores. DF's receptive vocabulary was assessed using the Peabody Picture Vocabulary Test – 3rd edn (PPVT-3; Dunn and Dunn, Reference Dunn and Dunn1997). His score on the PPVT-3 was in the normal range. The Leiter International Performance Scale-Revised (Roid et al., Reference Roid, Nellis, McLellan and McCallum2003) was used to assess DF's non-verbal cognitive ability. This assessment measures visualisation, reasoning, memory and attention. DF scored within normal limits on the Leiter-R.

Focus on narrative production

DF and his mother were recorded undertaking two narrative production tasks. During an autobiographical memory narrative task (narrative 1), DF's mother encouraged him to narrate events that had occurred during a family camping holiday. During a storybook narrative task (narrative 2), DF was encouraged to tell a story based on a wordless storybook Frog Goes to Dinner (Mayer, Reference Mayer1974). In this story, a boy and his family go to a fancy restaurant for dinner. The boy's mischievous pet frog goes along with them.

Focus on maternal language in SLI

Aside from providing information about DF's language skills, the narratives in unit 12.3 can also tell us about the ways in which maternal language may be modified to facilitate language development in children with SLI. Increasingly, investigators are examining maternal language use with a view to understanding the influence of maternal linguistic behaviours on the conversational participation of children with SLI. Majorano and Lavelli (Reference Majorano and Lavelli2015) examined 15 Italian-speaking children with SLI during shared book reading with their mothers. The informativeness of maternal utterances – coded on the basis of sophisticated word use – and use of scaffolding were analysed. Mothers of children with SLI produced a higher percentage of directly informative utterances with gestural scaffolding than did mothers of chronological age-matched children. Children's lexical development three months after the study was related to direct maternal informativeness in both groups of children, and to gestural scaffolding only in children with SLI. Barachetti and Lavelli (Reference Barachetti and Lavelli2011) examined repairs produced by mothers of children with SLI during shared book-reading conversation. Repairs were defined as any utterance that aimed to correct a child's problematic answer. Mothers of children with SLI produced significantly more high-supportive repairs than mothers of age-matched children. In children with SLI, supportive repairs significantly affected the occurrence of minimally acceptable answers, while non-supportive repairs affected significantly the occurrence of inadequate answers.

Some studies have failed to establish an effect of maternal language use on the responsiveness and participation of children with SLI. Rezzonico et al. (Reference Rezzonico, de Weck, Salazar Orvig, da Silva and Rahmati2014) examined the number and type of recasts used by mothers of French-speaking children with SLI during four different activities – joint reading, symbolic play, question-guessing game and clue-guessing game. Mothers of children with SLI provided more recasts than mothers of typically developing children. Moreover, these took the form of phonological recasts as opposed to lexical recasts which were more likely to be used by mothers of typically developing children. Recasts were used more frequently during joint reading. Notwithstanding these differences in recast use, no significant difference was observed in the children's responses. McGinty et al. (Reference McGinty, Justice, Zucker, Gosse and Skibbe2012) examined the relationship between mothers’ question use and the participation of preschool children with SLI during shared reading. Mothers’ question use did not facilitate higher levels of verbal participation by these children. Moreover, children's level of verbal participation did not influence the topic directiveness or cognitive challenge of mothers’ question use.

Impact and outcomes in SLI

At 4;8 years, DF will soon enter the school system. At this stage, his severe expressive language problems may have a number of serious consequences including poor academic attainment and problems in establishing peer relationships. DF may also be at an increased risk of victimisation and bullying. These possible consequences of DF's language disorder are suggested by the findings of studies that have reported significant, adverse academic and psychosocial impacts of SLI in children. Moreover, these impacts continue to be experienced by individuals with SLI long after the completion of compulsory education at the age of 16 years. Typically, this takes the form of reduced vocational opportunities and problems with social relationships. Some of these studies’ findings are examined in this unit.

For school-age children, SLI can have significant psychosocial and academic impacts. Redmond (Reference Redmond2011) examined peer victimisation levels in 7- to 8-year-old children with SLI, children with attention deficit hyperactivity disorder (ADHD) and typically developing children. Clinical status was found to be associated with elevated levels of victimisation, particularly for children with SLI. For typically developing children and children with ADHD, there was a potential buffering effect for number of close friendships. However, this did not exist for children with SLI. Conti-Ramsden et al. (Reference Conti-Ramsden, Durkin, Simkin and Knox2009) examined the educational outcomes of 120 adolescents with a history of SLI at the end of compulsory education. The results of national educational examinations were analysed. At least one of the expected qualifications was obtained by 44% of young people with SLI (88% of adolescents with typical development obtained the same level of qualifications). Among the adolescents with SLI, 24% was not entered for any examinations at the end of compulsory education (only 1% of adolescents with typical development was not entered for any examinations). After controlling for IQ and maternal education, literacy and language skills were predictive of educational attainment.

For young people with SLI, the completion of compulsory education and entry into the workplace bring new, additional challenges. Conti-Ramsden and Durkin (Reference Conti-Ramsden and Durkin2012) interviewed 50 19-year-olds with SLI about their education and employment experiences since finishing compulsory secondary education. Young people with SLI were on average less successful than peers without SLI, obtaining approximately two, mostly vocational qualifications in the first few years post school. For those who continued in education at 19 years, they were most commonly in lower educational placements than their typically developing peers. A larger proportion of young people with SLI were not in education, employment or training at 19 years of age. Whitehouse et al. (Reference Whitehouse, Watt, Line and Bishop2009a) examined the adult psychosocial outcomes of children with SLI, pragmatic language impairment (PLI) and autism spectrum disorder (ASD). Individuals with SLI were more likely than individuals with PLI and ASD to pursue vocational training and to work in jobs that do not require a high level of language/literacy ability. All groups had problems establishing social relationships, and some individuals in each group experienced affective disturbances.

Introduction

The following exercise is a case study of a boy (‘Tony’) who was studied longitudinally by Conti-Ramsden and Gunn (Reference Conti-Ramsden and Gunn1986) between 3;4 and 7;0 years. Tony had a profile of language strengths and weaknesses which was consistent with a diagnosis of semantic-pragmatic disorder. In present-day terminology, his problems would be characterised as pragmatic language impairment or social communication disorder (American Psychiatric Association, 2013). In what follows, Tony's abilities in pragmatics, verbal comprehension, syntax and phonology and non-verbal tasks are examined at three points in time during the period in which he was intensively studied. The case study is presented in five sections: history and initial assessment; language profile at 3;10 to 4;4 years; language profile at 5;2 to 5;7 years; language profile at 6;5 to 7;0 years; and focus on pragmatics.

History and initial assessment

Tony is the second of three children of Ghanaian parents. He was born in England, UK. His mother is a staff nurse and his father is an insurance clerk. Although Tony's parents speak Twi as their native language, they are both fluent speakers of English, and have always spoken English to him. Tony attended an English speaking playgroup. His older and younger sisters have no communication problems. When Tony was first referred for assessment by professionals to a Regional Child Development Centre at 3;4 years, his family had been living in England for over 10 years. Tony's parents reported that he was a good baby who did not demand much attention. His general development was normal. Although his early communicative development appeared normal to his parents, they noticed that he stopped communicating some time during his second year and also did not appear to respond to language. His parents became increasingly concerned about his lack of spontaneous language. At the same time, Tony was reciting some pop songs and nursery rhymes in their entirety. Many of his parents’ developmental observations were confirmed at Tony's initial assessment. His hearing was within normal limits and he had excellent self-help skills (e.g. he dresses himself and can undertake independent toileting). Tony had poor eye contact, did not relate to children or adults, and did not initiate conversation or respond in conversation. He produced echolalic speech and did not respond to simple instructions (e.g. selecting objects by name). His non-verbal intelligence was above average. Tony displayed limited symbolic play, and would link two items (e.g. put the doll to bed) but then lose interest. When given paper and a pencil, he did not draw. He was extremely good with puzzles.

Language profile at 3;10 to 4;4 years

During this period, Tony's eye contact improved, although he still did not initiate interaction or conversation. He does not point to indicate or request something, and does not bring anything to show it to another person. Tony cannot use language to communicate his needs and screams when he is communicatively frustrated. At a chronological age of 4 years, Tony has a verbal comprehension score on the Reynell Developmental Language Scales (Reynell, Reference Reynell1977) that is three standard deviations below the mean (age equivalent below the 1 year level). He can now yield objects on verbal request (e.g. Ball?) and is beginning to respond to his name. His receptive vocabulary in the last two to three months has grown to over 80 everyday objects. However, this is only in a structured setting with tangible reinforcement. Tony's echolalia continues. His phonology is intact in spontaneous speech. He can sing ‘Happy Birthday’ and the ‘Grand Old Duke of York’, and he can count up to 20. His first spontaneous utterances include single words like ‘hot’ of dinner, which is uttered to himself rather than directed at someone. Tony's symbolic play has improved in that he can now enact simple domestic situations with miniature toys. He can copy a peg board perfectly, can recall four out of five objects (visual memory), can recognise and match numbers and symbols up to 10, and can sort, match and sequence for size. Tony has good motor skills and likes music. He will let one child take him by the hand and tow him around. There are no positive results from an EEG.

Language profile at 5;2 to 5;7 years

At this stage in the study, Tony displayed further improvements in pragmatics, verbal comprehension and syntax and phonology. Tony is beginning to use spontaneous initiations in conversation both at school and at home (e.g. ‘open it’; ‘go outside, mummy’; ‘take it off’). There is also some use of ellipsis in conversation, but Tony still never asks questions. Three tests of verbal comprehension were conducted at this stage. These tests were the auditory comprehension component of the Preschool Language Scale (Zimmerman et al., Reference Zimmerman, Steiner and Pond1979), the verbal comprehension component of the Reynell, and the Test of Reception of Grammar (Bishop, Reference Bishop1983). The age equivalent on these tests was 4;6, 3;4 and 4;6, respectively. Tony still refers to himself as ‘Tony’ and displays pronoun reversals (e.g. I/you and my/yours). Tony has excellent auditory memory and could remember 11 food purchases in the correct sequence the following day. He can now imitate other children in puppet play and can make Lego models following detailed visual instructions. Tony's writing is improving and he appears to prefer to write than to speak. His mechanical reading ability is well above his age.

Language profile at 6;5 to 7;0 years

Towards the end of this longitudinal study, Tony presented as a normal child in simple, predictable situations and routines. He is now able to initiate, respond and maintain conversations. If complex verbal reasoning is involved, Tony still has difficulty in maintaining a topic. When excessive pragmatic or semantic demands are placed on him, Tony becomes agitated and screams or shouts. He still has impaired verbal comprehension. For example, at a chronological age of 6;11 years, Tony has an age equivalent on the RDLS and PLS of 4;11 and 6;6 years, respectively. He still has difficulty understanding words that involve feelings (e.g. ‘happy’, ‘sad’). Tony can now use complex sentence structures (e.g. sentences with direct and indirect objects), although he still has difficulty marking and maintaining tense appropriately in conversation. He is functioning above his age in terms of reading, writing and spelling. Tony tends to be obsessional and has difficulty coping with situation change. He has difficulty understanding humour but can treat simple activities as ‘jokes’ (e.g. he thought it was funny to copy a child who was whispering in the classroom). When told exactly what to do, Tony can be a very good actor. However, he is unable to spontaneously change or add anything to the instructions.

Focus on pragmatics

This unit examines several short conversational extracts that were recorded throughout the longitudinal study. These extracts illustrate at the level of conversation some of Tony's difficulties that were described in earlier units. The extracts all unfold between Tony (TO) and his teacher (TE):

Introduction

The following exercise is a case study of a young Swedish girl (‘Lena’) who was studied by Sahlén and Nettelbladt (Reference Sahlén and Nettelbladt1993) between the ages of 5;6 and 8;0 years. Lena was diagnosed as having semantic-pragmatic disorder, a subgroup within the group of specific and severe developmental language disorders. Nowadays, this group of children is labelled as having pragmatic language impairment or social communication disorder, the latter a diagnostic term used in DSM-5 (American Psychiatric Association, 2013). The case study is presented in five sections: history, hearing and cognitive evaluation; language profile at 5;6 years; language profile at 6;6 years; language profile at 8;0 years; and focus on pragmatics.

History, hearing and cognitive evaluation

Lena attends a language preschool unit for children with severe and specific developmental language disorders in Lund, Sweden. Staff at the unit reported that Lena at times behaves oddly. During pregnancy, Lena's mother had several infections of the upper respiratory tract and urinary tract. Apart from these infections, gestation was otherwise normal. Lena achieved motor milestones normally. At 2 to 3 years of age, there was a suspicion of autism. However, Lena's behavioural problems were later interpreted to be related to her language disorder. Lena experienced recurrent episodes of otitis media with effusion. However, screening audiometry, pure-tone audiometry and brainstem response audiometry all produced normal results. Some of Lena's family members have communication problems. Her two brothers – one older and one younger – are both receiving language training because of severe developmental language disorders. Lena's mother has a hearing impairment of unknown aetiology and wears a hearing aid at work. At 5;10 years, Lena underwent a speech discrimination test. She scored 78 to 86% (a score of > 90% is normal). The Raven's Coloured Progressive Matrices (Raven, Reference Raven1962) and the Swedish version of the Wechsler Intelligence Scale for Children (WISC; Wechsler, Reference Wechsler1976) were used to test Lena at 7;6 and 8;0 years, respectively. On the WISC, there was a discrepancy between verbal and performance scores, with the latter score higher (Verbal: Stanine 2 (low); Performance: Stanine 4 (low average)). On the Raven's Coloured Progressive Matrices, Lena's results were clearly above the mean.

Language profile at 5;6 years

Lena underwent a wide-ranging assessment of her language skills at 5;6 years. Her repetition of sentences was poor. She seemed not to understand the sentences she was asked to repeat or to remember them. For example, when asked to repeat ‘I cycle around the big house every night’, she uttered ‘Cycle every house’ and ‘I cycle every house’. Her ability to repeat word lists was also compromised. When asked to repeat the list ‘mitten-bird-lamp’, she said ‘mitten-bird-chair’, and the repetition of ‘running-reading-swimming’ took the form ‘running-water-swim’. Lena relied heavily on visual feedback to help her discriminate phonemes. The following distinctions were problematic for her: /ɯ-y/, /ʃ-s/, /d-g/ and /b-p/. There were phonological problems in the use of liquids and consonant clusters. In terms of prosody, Lena exhibited ‘childish’ intonation due to too many sentence accents and exaggerated pitch variation. The retrieval of words from a given semantic category was difficult for her. For example, Lena was only able to produce two words in the food category (apple and banana), and when she was asked what kind of clothes she was wearing, she replied ‘shirt, braids, black and black [points to her trousers and shoes] and pink [points to a pink ribbon in her hair]. Lena could classify pictures of objects correctly, but was unable to provide a superordinate lexical item for semantic categories (e.g. clothes). Language comprehension was assessed to be at the 3- to 4-year level. Where no visual support was given, Lena's participation on tasks that required comprehension of logical–grammatical constructions was poor. There was poor comprehension of prepositions, and attributive, possessive and comparative constructions. In spontaneous speech, there were errors in the use of prepositions. The use of finiteness and correct word order was also problematic. No sentence connectors were used. Lena's narrative retelling was fragmentary. When new topics were introduced, she made inconsistent use of indefinite and definite articles to refer to them and overused deictic expressions.

Language profile at 6;6 years

A second, comprehensive analysis of Lena's language was undertaken when she was 6;6 years. It was observed at this time that Lena had better understanding of instructions and that her echolalia was less evident. However, she still exhibited pragmatic problems and had difficulty concentrating on demanding tasks. Some of these problems were apparent in her responses to questions from the examiner (E).

Language profile at 8;0 years

A third and final assessment of Lena's language skills was undertaken at 8;0 years. As the intelligibility of her speech improved, and her willingness to participate in dialogue increased, her conversational difficulties have become even more evident. She is eager to respond to the examiner and almost never refuses to answer. She is poorly oriented to her own person, place and time, and cannot say how many brothers and sisters she has or tell the time of day. Lena still does not engage with demanding tasks. Although the repetition of nonsense syllables is still problematic (Lena does not appear to understand what she should do), the repetition of sequences with semantic content is age appropriate. Lena can retain three words during the repetition of word lists but there can be interference from other lists or when new words are introduced. There are more omissions during the repetition of sentences than in spontaneous speech. During narrative retelling, Lena's own experience tends to dominate, with familiar people taking the role of actors in the story. This is evident in the following extract from a narrative retelling task:

Lena was able to remember the 10 events in the story when given questions. At this stage, there are no errors of phoneme discrimination. Lena still struggles to produce words within a given semantic category. However, she is now able to produce superordinate lexical items. There continues to be considerable difficulty with the comprehension of logical–grammatical constructions and there is still no ability to rhyme. There is good performance on the Token Test (De Renzi and Vignolo, Reference De Renzi and Vignolo1962), a test of language comprehension. Lena's naming is very poor for her age. Most naming errors are semantic in nature:

There are still some grammatical problems such as the omission of function words and semantically inappropriate use of sentence adverbials and subjunctives. Lena's phonology has normalised. Her articulation sounds childish on account of a tendency to palatalise consonants, and her prosodic problems (e.g. exaggerated pitch variation) still persist.

Focus on pragmatics

At 8;0 years, Lena participated in the following exchange with the examiner. The examiner is asking Lena a series of questions based on general knowledge:

Introduction

The following exercise is a case study of a man (‘JR’) aged 47 years who was studied by Temple (Reference Temple1988). JR is an adult with developmental dyslexia. His case is somewhat unusual in that children with developmental dyslexia are seldom studied as adults. JR recalled having difficulty with reading from the start of school. He presented himself as an adult for assessment because he had heard about dyslexia and wanted to have a better understanding of his problems with reading and spelling. The case study is presented in five sections: primer on developmental dyslexia; client history; cognitive and language assessment; focus on reading; and focus on spelling.

Primer on developmental dyslexia

The International Dyslexia Association (2002) states:

This definition of dyslexia, which has been adopted by the National Institute of Child Health and Human Development and many US state education codes, places due emphasis on two features of developmental dyslexia: difficulties with reading and spelling cannot be accounted for by any environmental deprivation, and are not on account of a wider cognitive or intellectual disability. Notwithstanding ‘provision of effective classroom instruction’ and normal intellectual abilities, individuals with developmental dyslexia have significant problems with reading and writing which place them at risk of academic failure, vocational underachievement and other language disorders.

Developmental dyslexia is one of the few communication disorders with a well-developed epidemiological base. According to Shaywitz and Shaywitz (Reference Shaywitz and Shaywitz2003), the prevalence of dyslexia is estimated to be 5% to 17% of school-age children in the United States. Contrary to the findings of a number of studies, these investigators claim that dyslexia affects boys and girls comparably. The condition is both familial and heritable. Shaywitz and Shaywitz state that up to 50% of children of dyslexic parents, 50% of siblings of dyslexic children, and 50% of parents of dyslexic children may have the disorder. There is a high rate of comorbidity in children with dyslexia. Margari et al. (Reference Margari, Buttiglione, Craig, Cristella, de Giambattista, Matera, Operto and Simone2013) examined 448 children between the ages of 7 to 16 years with a diagnosis of learning disorders. For children with a diagnosis of specific learning disorders, which included reading, writing and mathematics disorders, attention deficit hyperactivity disorder (ADHD) was present in 33%, anxiety disorder in 28.8%, developmental coordination disorder in 17.8%, language disorder in 11% and mood disorder in 9.4%. Studies have consistently reported phonological processing deficits in children with dyslexia in English and in languages with other orthographies (see Christo (Reference Christo and Cummings2014) for discussion). Along with genetic and neurobiological factors, phonological processing deficits are part of a complex, multifactorial aetiology of dyslexia.

Client history

JR is 47 years old, and is right-handed. He is self-employed and has his own building firm. He remembers experiencing difficulty with reading from his early years at school. However, there were no reported problems with either mathematics or woodwork. When JR left school, he undertook a carpentry and joinery course at a technical college. He achieved the intermediate level, and then joined the army. JR's difficulties with reading and spelling persisted into adulthood, and a friend assists him with paperwork related to his business. JR referred himself for assessment, as he had heard about dyslexia and wanted to better understand the nature of his problems. An examination of JR's medical history revealed no serious illness, head injury or neurological disorder. He suffers from hay fever and migraine. JR has four children. One child has autism. Two other children had reading and spelling problems at school. In one of these children, a left-handed daughter, these problems were particularly marked.

Cognitive and language assessment

JR was assessed on the Raven's Progressive Matrices. He scored at the 50th percentile for his age. When JR described his problems, he said that he sometimes has difficulty expressing his thoughts clearly in speech and occasionally has difficulty finding the words he needs to explain situations. JR thinks clearly, but his thoughts can appear muddled when he attempts to express himself. JR spoke slowly, carefully and clearly in conversation. On an object naming test (Oldfield and Wingfield, Reference Oldfield and Wingfield1965), JR correctly identified 33 of 36 objects. His description of the cookie theft picture (Goodglass and Kaplan, Reference Goodglass and Kaplan1983b) is presented below:

JR displayed good oral fluency. In a 1-minute category fluency test, JR was able to produce the names of 22 animals and 38 things. However, his initial letter fluency was poorer. He was only able to generate 12 words beginning with ‘f’ in one minute, and 8 words beginning with ‘s’. His recitation of the alphabet was poor with several hesitations and two omissions. JR recalled that it took him until the age of 9 years before he could recite this sequence. His short-term memory, as assessed by digit span, was 5 forward and 2 backward.

Focus on reading

JR's ability to read words, non-words and words written in different ways was examined. JR achieved a score equivalent to a reading age of 12 years and 6 months on the Schonell single-word reading test. The upper limit on this test is 15 years, and JR's performance became noticeably slower from the 8-year-old level onwards. The reading of several words revealed certain types of errors. These errors included morphological paralexias (the base lexical item is read correctly, but a bound morpheme is dropped, added, or substituted), visual paralexias (errors in which the response shares at least 50% of letters in common with the target word), and neologistic responses. Some of JR's responses are shown below:

• pivot → ‘pirate’

• grotesque → ‘grotique’ /grɔtikə/

• fascinate → ‘fascinated’

• systematic → ‘sympathetic’

• metamorphosis → ‘metaporous’ /mɛtapoɷrʌs/

JR was also assessed on Nelson and O'Connell's (1978) irregular word reading test. The words in this test cannot be read using grapheme-to-sound rules. JR was able to read the following seven words correctly: ache, psalm, nausea, aisle, courteous, quadruped and catacomb. On Nelson and O'Connell's long regular word test, in which words can be read by the systematic application of grapheme-to-sound rules, JR was able to read nine of 10 high-frequency words, but only four unfamiliar, low-frequency words. There was one error on this test (adventurously → ‘adventurous’). JR's reading of regular and irregular words using Coltheart et al.'s (Reference Coltheart, Besner, Jonasson and Davelaar1979) list was also examined. Four irregular words were incorrectly read, but none of these errors were regularisations, in which systematic grapheme-to-sound rules had been applied. The errors were three visual paralexias and one omission. Overall, JR read 312 of 379 words (82%) correctly. Forty-two errors (63%) were neologisms, with 31 of these errors occurring on words of nine or more letters. Visual and morphological paralexias accounted for 24% and 12% of errors, respectively.

To examine reading of non-words, three balanced lists of words and non-words were presented to JR. He consistently read non-words more poorly than words. With increasing length, the difference between word and non-word reading became more marked. Also with increasing length, the number of lexicalisations (the reading of non-words as words) decreased. Finally, JR's ability to read different typed and handwritten stimuli was also examined. This included typewritten letters in lower-case, poorly handwritten letters, and typewritten letters in lower case and in the reverse order. Only one error, a morphological paralexia, occurred when typewritten letters in lower-case were presented. When normal subjects are presented with poorly handwritten letters, they score about 90% correct. However, JR only scored 48% correct, with most errors taking the form of visual paralexias. This dropped even further to 24% correct under the condition in which typewritten, lower-case letters were presented in reverse order.

Focus on spelling

JR's spelling of regular and irregular words and non-words was also assessed. JR attained a spelling age of 10 years 2 months on the Schonell single-word spelling test. He was dictated words for written spelling. JR spelled 47% of the irregular words correctly and 80% of the regular words. This difference was significant. Some of JR's spelling errors on regular and irregular words are shown below.

• Regular words

  • ‘library’ → libary

  • ‘victim’ →victum

  • ‘effort’ → efort

  • ‘fabric’ →faberic

• Irregular words

  • ‘cuisine’ → quizine

  • ‘menace’ → maness

  • ‘leopard’ →lepard

  • ‘ritual’ → richual

  • ‘health’ → heath

A lexical decision task was orally dictated to JR for written spelling. He was able to spell 84% of the words correctly, and 52% of non-words. Once again, this difference was significant. This result was unexpected given JR's performance on the spelling of regular words.

Introduction

The following exercise is a case study of a boy (‘JB’) who was studied by McCardle and Wilson (Reference McCardle and Wilson1993). JB was diagnosed as having FG syndrome. FG syndrome is an X-linked disorder which is characterised by intellectual disability, hypotonia, dysmorphic facial features, broad thumbs and halluces, anal anomalies, constipation and abnormalities of the corpus callosum (Lyons et al., Reference Lyons, Graham, Neri, Hunter, Clark, Rogers, Moscarda, Boccuto, Simensen, Dodd, Robertson, DuPont, Friez, Schwartz and Stevenson2009). Young boys with the syndrome have a behaviour phenotype which includes hyperactivity, affability and excessive talkativeness, along with socially oriented, attention-seeking behaviour (Graham et al., Reference Graham, Clark, Moeschler and Rogers2010). The case study is presented in five sections: history and medical assessment; cognitive and developmental assessment; language assessment at 25 to 34 months; language assessment at 44 to 54 months; and language assessment at 67 months.

History and medical assessment

JB is a white boy who was first seen at 2 years of age for investigation of developmental delay and dysmorphic facies. He is the first child of a 20-year-old woman. JB was full-term and there was nothing remarkable about his prenatal and neonatal courses. Delayed milestones were first observed when JB underwent a well-baby check at one year. Following this assessment, JB went on to sit at 15 months, to walk at 26 months and to use phrases at 3 years. When JB was 11 months old, he had an episode of aspiration pneumonia. Between 2 and 3 years of age, JB experienced hearing loss secondary to recurrent acute otitis media.

JB's family history was significant in several respects. He had a younger brother with similar facial features, a cardiac anomaly (ventriculoseptal defect), imperforate anus and agenesis of the corpus callosum. This child underwent repair of his ventriculoseptal defect but died in the immediate postoperative period. Callosal agenesis was confirmed by an autopsy. There were no other CNS abnormalities. JB's maternal uncle died of congenital heart disease at 10 months of age. He also had characteristic facies. Two other family members, JB's mother and maternal grandmother, had low set, poorly developed ears and prominent foreheads. JB's mother did not have a history of developmental problems.

JB underwent a wide-ranging medical examination. His dysmorphic facies included telecanthus (widened area of skin between the eyes), frontal bossing, a triangular shaped skull, small upturned nose, ‘carp mouth’, and small, underdeveloped, low-set ears. There was no cleft palate. A cardiac examination revealed a systolic murmur, but JB had a normal ECG. There were no rectal or genital anomalies. JB had long slender fingers, hypermobile thumbs and a shortened fourth metacarpal on the left. A paediatric neurologist reported generalised gross and fine motor dysfunction but no other abnormalities. A CAT scan revealed complete agenesis of the corpus callosum. JB had normal bone age and orbital hypertelorism (excessive distance between the orbits). Blood and body chemistries were normal. JB tested negative for fragile X. His karyotype was 46, XY with normal banding. JB is ambidextrous. He displayed a friendly, inquisitive personality during his interaction with the authors of the study.

Cognitive and developmental assessment

At 3;6 years, JB was assessed using the Bayley Scales of Infant Development (Bayley, Reference Bayley1969). This assessment revealed JB to be in the mild range of mental retardation (intellectual disability). During block manipulation, a mild tremor was noted. When undertaking visual–motor/visual–perceptual tasks, JB was observed to be awkward. Because he was unable to anticipate his own adjustments, JB often knocked down his own construction. His gross motor skills were also awkward, and he frequently tripped. At 3;10 years, JB was assessed using the Denver Developmental Screening (Frankenburg et al., Reference Frankenburg, Dodds and Fandal1968). The results of this assessment were highly varied. JB had personal-social skills at the 4;6 year level. His fine motor skills were at the 3;0 year level. His gross motor skills were solid to the 2;0 year level, with some successes at the 3;0 year level.

A more extensive set of assessments was undertaken at 4;5 years. JB's functioning was described as being in the ‘educably mentally retarded range’ with some strengths in verbal areas. Visual motor integration and non-verbal conceptual and reasoning skills were noted as problematic areas for JB. On the McCarthy Scales of Children's Abilities (McCarthy, Reference McCarthy1972), JB was more than two standard deviations below the mean for his age in all areas except verbal functioning. His performance was lowest on the general cognitive scale, falling more than three standard deviations below the mean. At 5;4 years, JB achieved a mental age of 2;9 years on the Merrill-Palmer Scale of Mental Tests (Stutsman, Reference Stutsman1948). This assessment revealed similar strengths and weakness in JB and confirmed his deficit in visual–motor deficits. His scores on the Beery Developmental Test of Visual Motor Integration (Beery, Reference Beery1989) were commensurate with a 2;10 year level of functioning. Language testing at 5;6 years showed that JB had language skills at the 4;3 year level. JB had difficulties in what the authors of the study described as pragmatic–integrative semantic aspects of language. Overall, these combined tests revealed that verbal skills and self-help areas were strengths for JB, while gross motor skills, fine motor skills and visual motor integration were consistently weak.

Language assessment at 25 to 34 months

At 25 months, JB's language skills were assessed. JB was found to have a seven-month delay in his receptive language skills and an 11-month delay in his expressive language skills. At 34 months, JB's language skills were assessed again. The gap between his chronological age and his language level had widened. On the Preschool Language Scale (Zimmerman et al., Reference Zimmerman, Steiner and Pond1979), JB was found to have a 14-month delay in both his receptive and expressive language skills. At 34 months, JB was observed to have mild-to-moderate hearing loss in at least one ear. Immittance audiometry was indicative of a middle ear effusion. JB also experienced periodic wax build-up in both ears. JB's mother reported a significant increase in his vocabulary every time his ears were irrigated.

Language assessment at 44 to 54 months

JB's language skills were assessed again at 44 months. His expressive and receptive language skills at this stage were still delayed by 14 months. Additionally, JB displayed mildly disordered articulation which included phoneme substitutions, particularly /t/ for /k/, and some distortions. JB also exhibited a rapid rate of speech and nasal resonance. JB used pantomimic gestures to augment his words and phrases. He tapped or tugged listeners to get their attention, and then delivered his message or request. In one episode where JB wanted one more turn at pushing an equipment card around the room, JB held up one finger of his left hand, then motioned with his right hand in a sweeping circle. At the same time, he uttered ‘I wanna push. More push please.’ JB was affectionate, talkative and quite active during the assessment.

At 54 months of age, JB had a delay of 21 months in his receptive language skills. His expressive language delay had increased to 24 months. Although his articulation had improved, it was still abnormal, and he had mild but noticeable hypernasality. A cognitive assessment placed him in the mild range of mental retardation (intellectual disability). JB still did not have mastery of colours, shapes and number concepts. JB's sentences were telegraphic, although their content was usually clear. For example, when asked what one should do when tired, JB responded ‘I go sleep uncle room, I sleep uncle bed’.

Language assessment at 67 months

At 67 months, JB achieved a receptive language score on the Preschool Language Scale that placed him 14.5 months below his chronological age. He scored at the 5-year level on some items (e.g. right-left discrimination of his body parts). JB was beginning to show evidence of the understanding of opposites and prepositions as well as agent–action relationships. His expressive language score on the Preschool Language Scale placed him at the 51-month level. On a task of verbal fluency, JB was able to name six animals. He responded correctly to 4 of 5 opposite analogies and to questions about remote events. Although his syntax and ability to express himself were not typical of a 4-year-old child, JB was able to convey clear message content. He was able, for example, to explain through words and pantomimic gesture that it is important to be sure there are ‘no cars’ when crossing the street. JB does not use conjunctions to link phrases. When asked to produce the names of objects, he produced the following errors: watch (‘Daddy have a pretty’); match (‘fire, burns’); chicken (‘duck’); shovel (‘rake’). Pauses and fillers are common. Some of JB's language problems are evident in the following exchange with the examiner (EX):

Introduction

The following exercise is a case study of an Italian boy who was studied by Angelillo et al. (Reference Angelillo, Di Costanzo and Barillari2010). This boy has Floating-Harbor syndrome (FHS). FHS is diagnosed on the basis of a triad of clinical signs: specific dysmorphic facial features; short stature with delayed bone age; and speech and language disorders (Pouliquen et al., Reference Pouliquen, Goldenberg, Hannequin, Lecointre, Lechevallier, Cormier-Daire and Martinaud2012). The gene(s) that is (are) responsible for the syndrome is (are) currently unknown. Although the majority of FHS cases appear to be sporadic, some appear to follow autosomal dominant inheritance (Lopez et al., Reference Lopez, Callier, Cormier-Daire, Lacombe, Moncla, Bottani, Lambert, Goldenberg, Doray, Odent, Sanlaville, Gueneau, Duplomb, Huet, Aral, Thauvin-Robinet and Faivre2012). The case study is presented in five sections: medical history and evaluation; cognitive and language profile; speech evaluation; speech and language intervention; and outcome of intervention.

Medical history and evaluation

The boy was born to non-consanguineous parents by caesarean section at 38 weeks’ gestation. The pregnancy was uncomplicated and the family history was unremarkable. His birth weight was 2.7 kg and his length was 46 cm. The neonatal course was normal. Apgar scores were 8 and 9 at 1 and 5 minutes, respectively. He began to walk at approximately 14 months. Growth retardation was noted during the first years of life. At 3 years of age, an endocrine assessment for short stature was undertaken. At this stage, his height was 86 cm (<3rd centile) and his weight was 12 kg (<3rd centile). His bone age was 1 year and 9 months. The boy's thyroid function was normal. There was a significant growth hormone (GH) deficit and therapy with recombinant GH was commenced.

The boy was noted to have the typical facial features of Floating-Harbor syndrome. He had a triangular face, a bulging, narrow forehead, a broad, bulbous nose with a prominent nasal bridge, a wide columella and smooth, short philtrum, a thin upper lip, a wide mouth, long eyelashes, posterior rotated ears, a short neck, a low posterior hairline and small hands. A chromosomal examination was conducted and was found to be normal. Hearing and vision were also normal. A microdeletion of 22q11 was excluded. Echocardiography, computerised tomography of the head and magnetic resonance imaging were all normal. Several tests of blood chemistry (e.g. ToRCH assay) produced negative results.

Cognitive and language profile

At 4 years of age, the boy underwent a cognitive assessment. It revealed that he had borderline mental retardation (intellectual disability). His verbal IQ was 65 and his performance IQ was 80. His full IQ was 70. It was judged that receptive linguistic difficulties and a short attention span impaired the result of the test. A further cognitive assessment was undertaken at 6 years of age. Rehabilitation was already underway at this stage. Pantomime was used to measure his non-verbal reasoning abilities independently of language skills. This assessment revealed that he had a non-verbal IQ of 90, which is a low average IQ.

Expressive and receptive language was also assessed at 4 years of age (48 months). The comprehension of words and particularly sentences was delayed. His language age for word and sentence comprehension was 36 to 41 months and 30 to 35 months, respectively. He understood only a few body parts, common objects and adjectives and was not able to recognise colours. The comprehension of actions and spatio-temporal concepts in sentences was severely impaired. His sentence repetition ability was also impaired, with a language age of 30 to 35 months. Only sentences of two or three words were repeated correctly. When asked to repeat longer sentences, the boy omitted words and exhibited speech sound disorders. Naming, sentence production, and phonological and morphosyntactic skills were most impaired. In all four of these areas, the boy had a language age of fewer than 30 months. He was able to name only a few body parts and common objects. He produced only single-word sentences and used mimicry and gestures to communicate. His intelligibility was poor.

Speech evaluation

A wide-ranging assessment of the boy's speech function was also undertaken at 4 years of age. This included voice, oromotor function, and articulatory and phonological skills. A perceptual and acoustic analysis of voice was performed. A perceptual rating indicated that voice quality was normal. Jitter and shimmer values, which were based on sustained phonation of [a], were also within the normal range. Fundamental frequency was normal. A nasolaryngoscopic evaluation failed to reveal any organic or functional disorder. An evaluation of oromotor function revealed a number of significant findings. They included an open bite malocclusion, slow oral motor speed, poor coordination and hypomobility of the palate, and moderate nasal emission on pressure sounds.

A picture naming test was used to assess articulatory and phonological skills. Only 20% of the words in this test were correctly pronounced. A further 33.6% of words were simplified, while 46.4% of words were unintelligible. All seven Italian vowels were produced correctly. The consonant inventory was very limited. The only sounds that the boy could produce were the plosives /t/ and /p/, the nasals /m/ and /n/, and the affricate /ʧ/ in word-initial and word-medial positions. The lateral /l/ was correctly produced only in word-medial position. This limited inventory found 76% of consonants missing in word-initial position, and 71% of consonants missing in word-medial position. No consonant clusters were produced.

Speech and language intervention

The boy received speech and language intervention as part of a wide-ranging programme of rehabilitation that involved a number of different professionals. The rehabilitation team included a child neuropsychiatrist, audiologist and phoniatrist, clinical psychologist, sociologist, speech and language therapist, and neuropsychomotor therapist. The boy received four individual speech and language therapy sessions per week. Each session was 45 minutes in duration, with the last 15 minutes reserved for the clinician to discuss progress and homework with the boy's parent.

The boy's cognitive functions were targeted in intervention through the use of computerised cognitive programmes. These functions included attention, memory, information processing, logical reasoning and problem-solving. Activities that involved crumpling, drawing, the use of scissors and cubes, threading and plugging were used to improve eye-to-hand coordination and fine motor functions. Hyperkinetic conduct was targeted through the use of behavioural modification strategies. These same strategies were used to improve attention span, mood control and personal and social functions.

Language training programs were used to improve receptive and expressive language. These involved naming, speech organisation, event description, storytelling and play. To improve speech intelligibility and articulation, speech training programmes involving auditory discrimination, phonological intervention, phonetic training, oral motor coordination and biofeedback were used. The boy's limited consonant inventory and systematic consonant substitutions made his phonology a priority for intervention. Lists of non-words were used to resolve structure processes such as consonant harmony. The non-words each had a plosive phoneme in word-initial position and a fricative phoneme in the intervocalic position. A picture character was associated with each non-word. Non-words were used initially as minimal pairs and then in picture stories. Phonetic training was used to improve the articulation of affricates and of trill /r/. Minimal pairs were also used to improve cluster reduction. Alongside phonological and phonetic intervention, oral motor exercises were used to strengthen the oral muscles and improve their coordination. Writing and reading were areas of difficulty for the boy when he commenced primary school. During the first two years of primary school, he was assigned an auxiliary teacher to assist with the development of these areas.

Outcome of intervention

The child's language skills continued to be tested up to 89 months. His receptive language skills were age-appropriate at 71 months. All expressive language functions continued to improve also. He could speak in longer sentences at 89 months and had an adequate vocabulary at 77 months. By 84 months, his phonological and articulation disorders had disappeared. There was also improvement in his tongue and palate movement. His nasal emission disappeared. Oral motor speed and coordination also improved. Other remediated areas including eye-to-hand coordination, fine motor functions, attention span, mood and hyperactivity control had also improved. By 8 years of age, the boy was in a mainstream class. His linguistic abilities were adequate and he was able to follow the class programme. There were no particular difficulties in learning.

Introduction

The following exercise is a case study of a woman (‘Mary’) of 28 years of age who was studied by Dobbinson et al. (Reference Dobbinson, Perkins and Boucher1998). Mary has autism, a neurodevelopmental disorder which has significant implications for all aspects of an individual's functioning. A clinical description of autism was first given in 1943 by Leo Kanner. Today, a diagnosis of autism is based on criteria that are contained in the Diagnostic and Statistical Manual of Mental Disorders (DSM). For a diagnosis of autism spectrum disorder to be made, the fifth edition of DSM states than an individual must display persistent deficits in social communication and social interaction, and restricted, repetitive patterns of behaviour, interests or activities. Moreover, these symptoms must be present in the early developmental period (American Psychiatric Association, 2013). The case study is presented in five sections: primer on autism spectrum disorder; client history and cognitive-communication status; focus on topic management; focus on conversational overlaps; and focus on conversational pauses.

Primer on autism spectrum disorder

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder which is found in all countries and cultures. In a recent study of the epidemiology of ASD, it was estimated that in 2010 there were an estimated 52 million cases of ASD worldwide (Baxter et al., Reference Baxter, Brugha, Erskine, Scheurer, Vos and Scott2014). This equates to a prevalence of 7.6 per 1,000 population or 1 in 132 persons. Alongside the high prevalence of ASD, there is also evidence that the disorder has a large and increasing incidence, and that there is a significant difference in the number of males and females who develop ASD. Hinkka-Yli-Salomäki et al. (Reference Hinkka-Yli-Salomäki, Banerjee, Gissler, Lampi, Vanhala, Brown and Sourander2014) calculated the annual incidence rate in the Finnish population to be 53.7 per 100,000. Also, there was an eightfold increase in the incidence rates of ASD in children born between 1987 and 1992. This study also obtained a sex ratio (boys:girls) of 3.5:1. ASD has a complex, heterogeneous, multifactorial aetiology which involves genetic and neurobiological factors (Parellada et al., Reference Parellada, Penzol, Pina, Moreno, González-Vioque, Zalsman and Arango2014). Many individuals with ASD have comorbid conditions such as intellectual disability, epileptic disorders and attention deficit hyperactivity disorder (ADHD) (Memari et al., Reference Memari, Ziaee, Mirfazeli and Kordi2012).

There is a broad spectrum of communicative disability in children and adults with ASD. Approximately 50% of individuals with autistic disorder do not develop functional speech (O'Brien and Pearson, Reference O'Brien and Pearson2004). For those individuals who do become verbal communicators, early vocal anomalies (atypical non-speech vocalisations) as well as receptive and expressive prosodic impairments have been identified (Peppé et al., Reference Peppé, McCann, Gibbon, O'Hare and Rutherford2007; Schoen et al., Reference Schoen, Paul and Chawarska2011). In terms of phonology, developmental phonological processes (e.g. cluster reduction) and non-developmental errors (e.g. phoneme-specific nasal emission) have been identified in the speech of children with ASD (Cleland et al., Reference Cleland, Gibbon, Peppé, O'Hare and Rutherford2010). Studies of syntax in ASD have produced conflicting findings. Although some studies have failed to find syntactic deficits in ASD (Allen et al., Reference Allen, Haywood, Rajendran and Branigan2011; Naigles et al., Reference Naigles, Kelty, Jaffery and Fein2011), there is evidence that aspects of complex syntax such as the comprehension of subject and object relative clauses are disrupted (Durrleman et al., Reference Durrleman, Hippolyte, Zufferey, Iglesias and Hadjikhani2015). In terms of lexical semantics, word learning in children with ASD is compromised, with impairment related to these children's reduced sensitivity to the social informativeness of gaze cues (Norbury et al., Reference Norbury, Griffiths and Nation2010). By far the most significant language deficits in ASD are found in pragmatics. The understanding of figurative utterances, the comprehension of inferred meaning and the appreciation of humour have all been reported to be impaired in ASD (Lewis et al., Reference Lewis, Woodyatt and Murdoch2008; MacKay and Shaw, Reference MacKay and Shaw2004). Children with ASD also have difficulty drawing inferences that are needed to understand metaphor and produce speech acts (Dennis et al., Reference Dennis, Lazenby and Lockyer2001). Not all aspects of pragmatics are impaired in ASD. There is evidence, for example, that scalar inferences are intact in individuals with ASD (Chevallier et al., Reference Chevallier, Wilson, Happé and Noveck2010; Pijnacker et al., Reference Pijnacker, Hagoort, Buitelaar, Teunisse and Geurts2009).

Client history and cognitive-communication status

Mary is 28 years old. She was diagnosed at 6 years of age with autism. At the time of study, Mary was a resident in a community in Yorkshire, England, for people with autism. The principal caregiver at her residential centre and Mary's parents provided background information for the study. Mary attended playschool and mainstream school despite her mother's concerns that she was experiencing psychological problems. From around the time of her third year, Mary's mother reported that she had concerns about her daughter. Mary exhibited late global development in these early years including delayed walking and spoken language development. Mary's mother recalls her as an anxious child who cried excessively. Mary exhibited no spontaneous play. Instead, she perseveratively waggled objects such as tissues. She did not display ordering or spinning behaviours. Mary preferred to sit on her potty rather than approach her mother for comfort when she was overcome with anxiety. She displayed a lack of interest in her peers and elder sibling. As a child, Mary had imaginary friends. However, these did not assume the role of a passive interlocutor.

Mary is considered by those involved in her care to be a talkative individual. Her talk mostly takes the form of lengthy monologues on her favourite topics. These topics, several of which she pursues obsessively, include the dates of birthdays of her acquaintances, the British royal family and politics. Over time, Mary's obsessive interests can decrease. Mary keeps a diary which she uses to express her anxieties and troubles. She enjoys music and sometimes sings in a monotonous fashion. There is restricted use of tone and pitch movement in her spoken language. Mary can read with comprehension. Her mother taught her to write before beginning school using a system in which specific letters were associated with colours. On the Wechsler Adult Intelligence Scale – Revised (WAIS-R; Wechsler, Reference Wechsler1981), Mary had a full scale IQ of 66. There was a slight disparity between her verbal and performance subscale scores which were 70 and 65, respectively. Mary displayed fairly even performance on the verbal tests. Subtest analysis revealed that she had relatively good short-term memory skills for number sequences.

Focus on topic management

During a series of visits to Mary's residential centre, conversational data were collected. Audio-recordings were transcribed using the notation shown below. Some sessions were also video-recorded. The conversations were informal in nature, with topics arising naturally between Mary (M) and the researcher (R). Occasionally, other participants were also present. The specific setting of these conversational exchanges varied between rooms in the centre that were used for structured activities, and the living room and kitchen of Mary's satellite house. In extract 1, the conversation opens with Mary and the researcher discussing Mary's participation in the mini-olympics. In extract 2, Mary and the researcher are continuing their conversation from extract 1 with a discussion of Amy's birthday cake. In extract 3, Mary is discussing the topic of housework.

Focus on conversational overlaps

When speech takes place simultaneously between the participants in a conversational exchange, overlaps arise. Overlaps can occur for a number of reasons including a desire to take the turn from the current speaker and to support a speaker in his or her turn (e.g. the use of backchannel behaviours such as ‘uh-huh’). The management of overlapping talk requires conversational skills which may not be present in individuals with autism spectrum disorder. It is interesting to consider if Mary, who makes extensive use of overlapping talk, exhibits the skills that are needed to manage this talk. To this end, consider the following conversational extracts between Mary and the researcher:

Focus on conversational pauses

Mary's conversational data contains many pauses, a substantial number of which are of long duration (they exceed 1 second). Pauses are often revealing of the cognitive processes that attend conversation, with both their location and duration conveying important information about their function. Several of Mary's long pauses are shown below:

Introduction

The following exercise is a case study of a girl (‘CA’) who was studied between 7;11 and 13;01 years by Lovett et al. (Reference Lovett, Dennis and Newman1986) and Dennis and Whitaker (Reference Dennis and Whitaker1976). CA has Sturge–Weber syndrome (SWS). This is a rare, congenital neurocutaneous condition which has an incidence of approximately 1 in 20,000 to 50,000 infants (Garro and Bradshaw, Reference Garro and Bradshaw2014). It is characterised by capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain known as a leptomeningeal angioma (Comi, Reference Comi2011). Seizures are a common feature of SWS. Sujansky and Conradi (Reference Sujansky and Conradi1995) reported seizures in 80% of a sample of 171 individuals with SWS. In CA's case, seizures were controlled by a left hemispherectomy which was performed when she was 28 days old. The case study is presented in five sections: primer on epilepsy in Sturge–Weber syndrome; medical history; language and cognitive assessment; language and cognitive profile; and focus on narrative discourse production.

Primer on epilepsy in Sturge–Weber syndrome

Although SWS is a congenital condition, its early diagnosis is impaired by the poor sensitivity of imaging in the neonatal period and infancy (Comi, Reference Comi2007). The presence at birth of a facial angioma in the trigeminal nerve area raises a suspicion of SWS (Nabbout and Juhász, Reference Nabbout and Juhász2013). However, there are rare cases of the syndrome in the absence of a port-wine stain (Shekhtman et al., Reference Shekhtman, Kim, Riviello, Milla and Weiner2013). Most individuals with SWS survive into adulthood with varying degrees of neurological impairment. This includes epilepsy, hemiparesis, visual field deficits and cognitive impairments that range from mild learning disabilities to severe deficits (Comi, Reference Comi2011). It has been suggested that epileptogenesis is caused by chronic ischaemia in cortical areas that are affected by leptomeningeal angioma or by ischaemia-related cortical malformations (Murakami et al., Reference Murakami, Morioka, Suzuki, Hashiguchi, Amano, Sakata, Iwaki and Sasaki2012). In one clinical sample, the age of seizure onset ranged from birth to 23 years, with 75% of individuals experiencing the onset of seizures before 1 year of age (Sujansky and Conradi, Reference Sujansky and Conradi1995). Parents can be trained to use benzodiazepines to treat seizures. However, in patients with intractable epilepsy, surgery may be considered (Nabbout and Juhász, Reference Nabbout and Juhász2013).

SWS and related epilepsy have adverse implications for the language, cognitive and academic skills of children with the disorder. Suskauer et al. (Reference Suskauer, Trovato, Zabel and Comi2010) reported expressive language delays in 9 of 14 infants aged 0 to 3 years with SWS. None of these children had receptive language problems. Raches et al. (Reference Raches, Hiscock and Chapieski2012) found that a group of SWS children with seizures were more impaired than seizure-free children with SWS on 9 of 15 measures of behavioural and academic functioning. Moreover, children with seizures were more than 10 times as likely as seizure-free children to have received special education services. Treatment of intractable epilepsy in the form of hemispherectomy also has implications for language and cognitive skills. Mariotti et al. (Reference Mariotti, Iuvone, Torrioli and Silveri1998) examined language and visuospatial abilities in a patient who underwent early removal of the left hemisphere on account of SWS. This patient's language skills were mildly impaired but equivalent to those of IQ controls. Non-literal language comprehension was intact. However, visuospatial skills were worse than those of IQ controls. Vargha-Khadem et al. (Reference Vargha-Khadem, Carr, Isaacs, Brett, Adams and Mishkin1997) reported the case of a boy with SWS whose comprehension of single words and simple commands did not progress beyond an age equivalent of 3 to 4 years. Following left hemidecortication performed at 8.5 years, there was a rapid improvement in his speech and language skills, with receptive and expressive language on testing at the end of the period of study (15 years) placing him at an age equivalent of 8 to 10 years.

Medical history

When CA was born, she had a marked port-wine stain on the left side of her face and over the distribution of the trigeminal nerve on the right. Immediately after birth, there was twitching of the right arm and leg which soon progressed to right-sided seizures. At 6 days of age, CA was admitted to hospital with twitching of her right arm. An X-ray revealed her skull to be within normal limits in size and contour and there was no evidence of increased intracranial pressure. An EEG showed a significant asymmetry, with a depression of voltage over the left hemisphere. At 28 days of age, CA underwent a left hemispherectomy. During surgery, the exposed cortex was plum-coloured over its surface and the arachnoid was dense purple in some areas. On gross examination, the brain tissue was softer than normal. The complete left hemisphere was removed in stages. The basal ganglia were spared. Pathological examination revealed a haemangioma of the meninges and calcification and gliosis of the sub-adjacent cortex. Focal areas of calcification were found in all lobes of the cortex. For the most part, it was confined to the white matter, although it was also scattered throughout the grey matter as well. There was some alteration of cortical grey matter in the parieto-temporal lobe. Following surgery, CA displayed some questionable right-sided twitching for which she received anticonvulsive medication. After 10 days, this medication was discontinued. An EEG performed after surgery revealed no evidence of right-sided seizures. At the time of study, CA has a spastic hemiplegia. However, she has remained free of seizures in the nine-year period following surgery.

Language and cognitive assessment

CA's language and cognitive skills were extensively examined between 7;11 and 9;7 years. The content of the standardised assessments only will be examined in this unit. The results of these tests will be discussed in unit 19.4. At 9;5 years, CA's language skills were tested on the Illinois Test of Psycholinguistic Abilities (ITPA; Kirk et al., Reference Kirk, McCarthy and Kirk1968). This wide-ranging assessment employs 10 subtests to examine comprehension, association and expression across auditory, visual and manual modalities. For example, the subtest on grammatic closure measures a subject's ability to use proper grammatical forms to complete a statement (e.g. ‘Here is a dog. Here are two _______’). The manual expression subtest measures a subject's ability to express an idea with gestures (e.g. ‘Show me what to do with a hammer’). The scores on each subtest are expressed as age equivalences. Phoneme discrimination was assessed using the Auditory Discrimination Test (Wepman, Reference Wepman1958) and the Goldman–Fristoe-Woodstock Test of Auditory Discrimination (Goldman et al., Reference Goldman, Fristoe and Woodcock1970). In the former test, subjects are presented with word pairs and asked to determine if they are the same words or different words. In word pairs which are different, phonemes from the category of stops, for example, will be replaced by other stops. In the latter assessment, a word is read to subjects who then select a picture from a set of four pictures that corresponds to it. Phoneme production was assessed using the Goldman–Fristoe Test of Articulation (Goldman and Fristoe, Reference Goldman and Fristoe1969). Subjects are shown pictures of familiar objects which they are required to name.

Word comprehension was tested using the Peabody Picture Vocabulary Test (PPVT; Dunn, Reference Dunn1965) and the Word Discrimination Test (WDT; Goodglass and Kaplan, Reference Goodglass and Kaplan1972a). In the PPVT, subjects select a picture from a set of four that corresponds to a spoken word. The WDT assesses comprehension of words in six semantic categories: objects; geometric forms; activities; letters; colours; and numbers. Word production was assessed by means of Visual Confrontation Naming (Goodglass and Kaplan, Reference Goodglass and Kaplan1972a), Responsive Naming (Goodglass and Kaplan, Reference Goodglass and Kaplan1972a) and Naming Fluency (Goodglass and Kaplan, Reference Goodglass and Kaplan1972a). The first of these assessments examines production of words in the same six semantic categories used in the WDT. Auditorily cued word retrieval is assessed in Responsive Naming. In Naming Fluency, subjects have to name as many animals as possible in 90 seconds. The word ‘dog’ is given to initiate a response. The Test of Syntactic Comprehension (Parisi and Pizzamiglio, Reference Parisi and Pizzamiglio1970) was used to assess the comprehension of a range of simple and complex syntactic contrasts (e.g. direct–indirect object). Comprehension of affirmative and negative active and passive sentences was tested using the Active–Passive Test (Dennis and Kohn, Reference Dennis and Kohn1975). The Story Completion Test (Goodglass et al., Reference Goodglass, Gleason, Bernholtz and Hyde1972) examines subjects’ productive control of syntactic forms. Sentences are presented orally to subjects who must complete them with a highly predictable final sentence or phrase, e.g. ‘I sold her a small car. The car was red. In other words I sold her ________’ (response: a small red car). The Token Test (De Renzi and Vignolo, Reference De Renzi and Vignolo1962) was used to assess comprehension of commands which vary in information and syntactic complexity. The commands presented in the five parts of this test are:

• Part 1: ‘Touch the red circle’

• Part 2: ‘Touch the small red circle’

• Part 3: ‘Touch the yellow circle and the red rectangle’

• Part 4: ‘Touch the small blue circle and the large green circle’

• Part 5: ‘Touch the yellow circle with the blue rectangle’

Finally, intellectual functioning was assessed using the Wechsler Intelligence Scale for Children (WISC; Wechsler, Reference Wechsler1976). The WISC is used to obtain a verbal and performance IQ as well as a full-scale IQ.

Language and cognitive profile

On the ITPA, CA had a composite psycholinguistic age of 7;3 years which was well below her CA of 9;5 years. Her best performances were on the auditory reception, visual reception and visual memory subtests (age equivalents of 8;4, 8;10 and 8;4 years, respectively), while her worst performances were on the visual association, verbal expression and visual closure subtests (age equivalents of 6;6, 6;0 and 6;6 years, respectively). Phoneme discrimination and production were areas of relative strength, with the percentage of correct responses on the Auditory Discrimination Test, the Goldman–Fristoe-Woodstock Test of Auditory Discrimination, and the Goldman–Fristoe Test of Articulation 97.5%, 87.0% and 100%, respectively. The PPVT was performed at 7;11 years. CA's mental age on this test was 7;5 years and her IQ was 95. The percentage of correct responses on Word Discrimination, Visual Confrontation Naming and Responsive Naming was 98.6%, 99.0% and 90.0%, respectively. CA was able to name 10 animals in the most fluent 60-second period during Naming Fluency. Children of a similar age to CA typically produce 12 animal names in 60 seconds. The Test of Syntactic Comprehension was performed at 9;6 years, with CA achieving 93.4% correct responses. The Active–Passive Test was also performed at 9;6 years. Although CA displayed relatively good comprehension of active sentences (active affirmatives: 90.6%; active negatives: 84.4%), comprehension of passives was considerably poorer (passive affirmatives: 50.0%; passive negatives: 71.9%). The large majority of CA's responses on the Story Completion Test (78.2%) showed that she had productive control of grammatical constructions. The Token Test was performed at 8;0 years. On the first four parts of this test, CA achieved 100% correct responses. However, this dropped to 77.3% on part 5. Finally, on the WISC, CA's verbal IQ was 91, her performance IQ was 108 and her full-scale IQ was 99.

Focus on narrative discourse production

At 13;01 years, CA's narrative discourse skills were examined. Four narrative texts were used to investigate narrative production: ‘Little Red Riding Hood’; ‘The Frog Prince’; ‘The Practical Princess’; and ‘Goldilocks’. Only two of these texts – ‘Little Red Riding Hood’ and ‘Goldilocks’ – will be discussed in this unit. Each text was read to CA by the examiner. At the same time, puppets were used to perform the roles of the main protagonists. After hearing each narrative, CA retold the story to the examiner, using the puppets as and when required. The narratives were audio-recorded and transcribed.

Introduction

The following exercise is a case study of a man (‘DL’) aged 47 years who was studied by Smith Doody et al. (Reference Smith Doody, Hrachovy and Feher1992). DL developed temporal lobe epilepsy subsequent to encephalitis. He exhibited recurrent fluent aphasia in association with his temporal lobe seizure activity. Post-encephalitic epilepsy is a relatively common neurological disorder which has implications for speech and language. It is thus a disorder which falls within the professional remit of speech-language pathologists. The case study is presented in five sections: primer on post-encephalitic epilepsy; medical history; cognitive assessment; language assessment; and focus on expressive language.

Primer on post-encephalitic epilepsy

Adult-onset epilepsies can be caused by a number of diseases and injuries. These epilepsies may arise on account of cerebral infections like viral encephalitis and bacterial meningitis. They may also be caused by cerebrovascular disease, tumours, neurosurgical procedures and traumatic brain injuries. Epilepsy is a relatively common neurological sequela in adults who develop encephalitis. Singh et al. (Reference Singh, Fugate, Hocker and Rabinstein2015) examined 198 adults aged 41 to 69 years with acute encephalitis. These investigators reported post-encephalitic epilepsy in 29.9% of patients. Seizures were most commonly found in adults with auto-immune encephalitis (54.5%). However, viral encephalitis (24.2%) and encephalitis of unknown or other aetiology (33.9%) were also associated with seizure activity. Encephalitis is increasingly being linked to adult-onset temporal lobe epilepsy. Bien et al. (Reference Bien, Urbach, Schramm, Soeder, Becker, Voltz, Vincent and Elger2007) examined 38 patients with temporal lobe epilepsy whose median age at onset was 37.8 years. Nine patients (24%) had a diagnosis of definite auto-immune encephalitis, and a further 11 patients (29%) had a diagnosis of possible auto-immune encephalitis. In a study of 74 adults who underwent temporal lobectomy, Uesugi et al. (Reference Uesugi, Shimizu, Maehara, Arai, Kaito, Matsuda, Nakayama and Onuma1998) related the onset of temporal lobe epilepsy to undiagnosed episodes of mild encephalitis/meningitis in childhood.

Post-encephalitic epilepsy is associated with a range of language and cognitive problems. Kishi et al. (Reference Kishi, Sakakibara, Ogata and Ogawa2010) reported the case of a 59-year-old woman with limbic encephalitis who presented with severe anterograde and retrograde memory impairment and transient fluent, phonemic paraphasia. Bianchi et al. (Reference Bianchi, Dworetzky and Bromfield2009) examined five patients with adult-onset, medically intractable, post-encephalitic epilepsy. These patients experienced auditory auras which ranged from unformed buzzing to structured language. Okuda et al. (Reference Okuda, Kawabata, Tachibana, Sugita and Tanaka2001) reported the case of a 25-year-old woman who developed pure anomic aphasia following encephalitis. The patient's naming difficulty persisted during a two-year follow-up period in the absence of any other language or memory dysfunction.

Medical history

DL is a 47-year-old, right-handed, Hispanic man. In March 1988, he experienced a headache. This was followed by fever and a right focal seizure which then generalised. He was admitted to hospital with a diagnosis of encephalitis. After discharge, he did well for a 2-month period but was then readmitted for the sudden onset of confusion. A left frontal brain biopsy was performed, but it was non-diagnostic. DL was discharged on Dilantin and phenobarbital. He was admitted again seven months later for worsening mental status and received a 10-day course of acyclovir. Over time, DL improved to a baseline of good functioning but he was unable to return to work. His family reported that he understood all but the most difficult discussions and continued to read. Apart from his finances, which he was not able to handle without assistance, DL was able to take care of his usual activities. His medication at this stage was 200 mg Dilantin by mouth twice a day. Phenobarbital was being tapered.

On 23 September 1989, DL was admitted to the Houston Veterans Affairs Medical Center for the sudden onset of altered mental status. That morning, he had been feeling well and was talking to his family about job prospects. They left him and returned half an hour later to find him crying and confused. He was unable to explain what was wrong. An examination of his mental status in hospital revealed him to be alert but disoriented to person, place, time and situation. He displayed a receptive aphasia. A general physical examination was normal. A general neurological examination revealed only a slight circumduction of the right lower extremity. CBC (complete blood count) and SMAC (a broad screening tool to evaluate organ function) were normal. Thyroid function tests, vasculitis screen and cerebrospinal fluid examination were also normal. An MRI showed a slight, generalised increase in ventricular size but no other focal abnormalities since his post-craniotomy study performed 16 months earlier. An EEG was conducted the morning after admission. There was recurrent moderate to high voltage spike, and slow and sharp and slow wave activity in the left temporal region which occurred every 1 to 3 seconds. Two episodes of staring with unresponsiveness occurred on the second hospital day. These correlated with continuous spike and wave discharges in the left temporo-occipital region on EEG. DL was given 10 mg of Valium without clinical effect. He was loaded with 500 mg Dilantin and 60 mg phenobarbital. In a follow-up EEG, there was a left temporal slow wave focus with frequent spikes and sharp waves and a normal background.

Cognitive assessment

Early on the fifth day of hospitalisation, DL's cognitive skills were assessed using the Mini-Mental State Examination (MMSE; Folstein et al., Reference Folstein, Folstein and McHugh1975). This assessment contains five subtests: orientation; registration; attention and calculation; recall; and language. DL spelled the word ‘world’ backwards quickly and without errors, but made two errors when he attempted to state the months of the year backwards. When questioned in writing, he was fully oriented (he scored 9/10 correct). However, he did not comprehend the orientation questions when orally questioned. He was able to copy the drawing on the MMSE correctly. Comprehension difficulties precluded an assessment of visual memory and verbal memory. He was accurate on the Digit–Symbol substitution subtest of the Wechsler Adult Intelligence Scale-Revised (WAIS-R; Wechsler, Reference Wechsler1981). DL was unable to complete the sequence 1–A, 2–B, 3–C, and so on. He made three omission errors on the ‘A's test’ of vigilance. DL displayed inconsistent insight into his situation.

Language assessment

DL's language skills were also extensively examined. On the Boston Diagnostic Aphasia Examination (Goodglass and Kaplan, Reference Goodglass and Kaplan1983b), DL displayed moderate auditory comprehension deficits. He was able to understand simple one- and two-step commands and displayed intact comprehension of 2 of 5 sentences. Repetition was very impaired – he was not able to repeat any sentences presented to him. DL was able to read aloud 5 of 7 sentences, with evidence of mild, occasional paraphasias. His reading comprehension was mildly impaired – he was able to understand 5 of 7 commands. On the Boston Naming Test (Kaplan et al., Reference Kaplan, Goodglass and Weintraub1983), DL named only 18 of 60 items. DL's spontaneous language production is examined in unit 20.5.

At the end of testing, DL laughed suddenly, stood up, stared and exhibited motor automatisms (eye blinking, picking movements with his fingers). He could only respond to questions with ‘yes’ or ‘si’. He was led back to his bed. When this period of staring and reduced responsiveness had passed, DL's aphasia was much worse. He was alert and was attempting to communicate. He used gestures to express his frustration. Orientation and memory testing were not possible as he did not appear to understand what was required of him. His speech, which had been previously fluent, was almost completely neologistic and unintelligible. His verbal comprehension was markedly decreased, and he understood no verbal commands. During reading aloud, he produced neologistic jargon. He was still able to copy a drawing. On occasion, he stopped talking and blinked for a few seconds. During this period, a bedside EEG revealed seizure activity in the left temporal region.

Focus on expressive language

This unit contains three extracts of expressive language produced by DL. These extracts are taken from: (1) the session during which DL's history was taken; (2) the session during which language testing was performed; and (3) DL's attempt to describe the cookie theft picture. Although these extracts are short, they are nonetheless revealing of DL's language problems.

Introduction

The following exercise is a case study of a 10-year-old girl (‘DG’) who was studied by Oelschlaeger and Scarborough (Reference Oelschlaeger and Scarborough1976). DG developed a language disorder following a traumatic brain injury. She was assessed before and after a 6-month period of intensive speech and language therapy. The case study is presented in five sections: primer on paediatric traumatic brain injury; client history; speech, language and hearing assessment; therapeutic programme; and post-intervention language skills.

Primer on paediatric traumatic brain injury

Traumatic brain injury (TBI) is a leading cause of death and disability in children. In a review of research conducted since 1990, Thurman (Reference Thurman2015) obtained the following median estimates of the annual incidence of brain injuries in children and young people aged 0–20 years: 691 per 100,000 population treated in emergency departments, 74 per 100,000 population treated in hospital, and 9 per 100,000 population deaths from TBI. Among children less than 10 years, the risk of head injury is 1.4 times higher in males than in females. Among children over 10 years, the risk is 2.2 times higher in males than in females. Falls are the leading cause of TBI in children less than 5 years, while road traffic accidents are the leading cause of injury in adolescents aged 15 years and older. Thurman estimated that the prevalence of disability among children who were hospitalised with TBI could approximate 20%.

The sequelae of TBI in children are wide-ranging in nature. They include motor problems, cognitive deficits, communication disorders, sensory impairments, epilepsy, behavioural difficulties and swallowing problems. Often, these sequelae persist over many years and adversely affect functioning in adulthood. In a study of 25 children (mean age: 13.7 years) with severe TBI, Emanuelson et al. (Reference Emanuelson, von Wendt, Lundälv and Larsson1996) reported motor problems, epilepsy and speech impairment in 88%, 28% and 56% of children, respectively. Of 23 survivors who were followed up at 2 to 6 years post-injury, all had at least one sequela and 21 survivors had multiple sequelae. Morgan et al. (Reference Morgan, Mageandran and Mei2010) examined 1,895 children with TBI who were consecutively referred to a tertiary paediatric hospital over an eight-year period. The incidence of dysarthria and dysphagia in these children was 1.2% and 3.8%, respectively. Among children with severe TBI, the incidence of dysphagia was 76%. In a study of 100 subjects who sustained a TBI prior to 12 years of age, Penn et al. (Reference Penn, Watermeyer and Schie2009) found that 31% had reported hearing loss. This was confirmed audiologically in 14% of subjects. Barlow et al. (Reference Barlow, Thomson, Johnson and Minns2005) reported visual deficits in 48% of 25 children who sustained an inflicted TBI. Gerrard-Morris et al. (Reference Gerrard-Morris, Taylor, Yeates, Walz, Stancin, Minich and Wade2010) examined 87 children who sustained a TBI between 3 and 6 years of age. Children with severe TBI had generalised cognitive deficits, while those with less severe TBI had problems with visual memory and executive function. Behaviour and personality can be markedly disrupted following TBI in children. Neuropsychiatric disorders include personality change, secondary attention deficit hyperactivity disorder, other disruptive behaviour disorders and internalising disorders (Max, Reference Max2014).

Speech-language pathologists assess and treat the significant speech and language disorders that attend TBI in children. In children with dysarthria, speech deficits are found across respiration, prosody, resonance, articulation and phonation (Morgan et al., Reference Morgan, Mageandran and Mei2010). Perceptual, instrumental and physiological assessments are used to examine these speech production subsystems. Cahill et al. (Reference Cahill, Murdoch and Theodoros2005) used perceptual and instrumental assessments to examine speech production in 24 children with TBI. Perceptual assessment revealed consonant and vowel imprecision, increased length of phonemes and an overall reduction in speech intelligibility. There was significant impairment in lip and tongue function during an instrumental assessment, with rate and pressure in repetitive lip and tongue tasks particularly impaired. Language disorders also occur in paediatric TBI and are often related to the presence of cognitive deficits. Beauchamp and Anderson (Reference Beauchamp, Anderson, Dulac, Lassonde and Sarnat2013) state that although there have been some isolated reports of aphasia following childhood TBI, these cases are rare and tend to recover with time following injury (915). Pragmatic and discourse skills are frequently disrupted in children who sustain TBI. Walz et al. (Reference Walz, Yeates, Taylor, Stancin and Wade2012) examined narrative discourse skills in 43 children with moderate TBI and 19 children with severe TBI who were between 3 years and 6 years 11 months at the time of injury. Children with TBI performed worse than an orthopaedic control group on most discourse indices. Children with severe TBI were less proficient than children with moderate TBI at identifying unimportant story information. Age and pragmatic skills were predictors of these children's discourse performance.

Client history

DG sustained a head injury in May 1974 when she fell off her horse onto the pavement. As a result of her fall, she was unconscious and bled from her left ear. She was taken to hospital where a left hemicraniectomy was performed three hours later. DG's postoperative diagnosis was ‘left subdural haematoma, epidural haematoma and brain laceration’. When DG was discharged from hospital, she had a right hemiplegia and severe traumatic aphasia. There was no involvement of the right cerebral hemisphere. Prior to DG's head injury, she was a healthy, ‘normal’, active 10-year-old girl. She was in the fourth grade at school and was performing well academically, obtaining all As in the past academic year.

Speech, language and hearing assessment

DG underwent a comprehensive assessment of speech, language and hearing. Pure-tone audiometry was unsuccessful as DG could not be conditioned to the task. However, when free-field, pure tones were presented at 15 dB, DG did display orienting responses. DG was also able to attend to environmental sounds such as the voice of a speaker and the sound of a door opening. DG displayed no response to simple questions or commands to identify pictures, objects and body parts. On the Peabody Picture Vocabulary Test (Dunn, Reference Dunn1959), DG was unable to make even one correct response. This test demands a pointing response, which could only be elicited in DG with gestural stimulation – DG did not comprehend verbal instruction. However, DG pointed randomly to one or sometimes to all pictured items. DG was unable to produce almost any spontaneous language. The only verbal output was iteration of the syllable ‘na’ which was uttered without meaning. DG was unable to engage in imitative verbalisation. She was, however, able to protrude, elevate and lateralise her tongue in imitation of the examiner. DG could not match written words to either pictures or objects. She was able to visually match geometric objects, numbers and pictures. Through the use of her left, non-dominant hand, DG was able to copy words of four or five letters. However, writing was limited to copying (i.e. it was never spontaneous), and could not be elicited through any other type of stimulus presentation.

Therapeutic programme

Five principles were integral to the therapy that DG received. These principles were (1) the use of intensive auditory stimulation, (2) the requirement that a response is made to each stimulus presentation, (3) the use of meaningful language units, (4) the use of controlled stimulus presentations, and (5) the use of all language modalities. Stimulus items were restricted to just four categories: food (bread, milk); clothing (coat, shoes); place setting (knife, fork); and grooming articles (brush, comb). Activities were designed to stimulate all language modalities and were sequentially introduced on the basis of their presumed difficulty. The same three activities were used at the start of each therapy session. These were matching like pictures or objects, graphic imitation of printed word and matching graphic imitation with printed word. The next tasks in the order of difficulty involved matching picture or object to word and matching word to picture or object. The next activity in the hierarchy of difficulty involved matching auditory stimuli to printed words, pictures or objects. A decrease in the amount and type of information that was available for correct responding varied the difficulty level of this task. An activity which aimed to elicit spontaneous verbal production followed successful auditory comprehension. Stimuli such as printed words, objects or pictures were used to elicit the desired response. A spontaneous writing task was the last activity to be used. The same stimuli that were used in previous tasks were also used to elicit writing in this activity.

Post-intervention language skills

DG was still successfully matching pictures and objects and graphic imitation to printed words at the end of therapy. However, where therapeutic progress was clearly made was in the matching of words with pictures or objects, or matching pictures or objects with words. These tasks were performed with 90% and 95% accuracy, respectively. DG could not perform either of these tasks at the outset of therapy. By the end of therapy, DG's auditory comprehension exhibited 61.24% accuracy. In effect, DG was now identifying pictures, words or objects correctly when given an auditory stimulus nearly two-thirds of the time. Although this still represented an impairment of auditory comprehension, it was nevertheless a significant improvement. DG's spontaneous verbal production also improved considerably. Prior to therapy, DG did not use language spontaneously. By the end of therapy, she displayed a mean spontaneous verbal production of 20.5%. In terms of spontaneous writing, DG was able to write the stimulus word ‘egg’ on two separate occasions when provided with auditory cues. The words ‘spoon’, ‘comb’ and ‘brush’ were written during one of the final sessions without any cues. DG was also able to print the first three or four letters of a word when shown an object but she could not complete it. An auditory cue frequently elicited the final letter of the word.

Introduction

The following exercise is a case study of a girl who was studied longitudinally between 9;11 and 11;9 years by Docking et al. (Reference Docking, Murdoch and Suppiah2007). At 9;11 years, the girl was diagnosed with an ependymoma of the right cerebellar hemisphere. Long-term speech, language and cognitive deficits have been reported in children following polytherapy (surgery, radiotherapy and/or chemotherapy) of cerebellar tumours (De Smet et al., Reference De Smet, Catsman-Berrevoets, Aarsen, Verhoeven, Mariën and Paquier2012; Hoang et al., Reference Hoang, Pagnier, Guichardet, Dubois-Teklali, Schiff, Lyard, Cousin and Krainik2014; Levisohn et al., Reference Levisohn, Cronin-Golomb and Schmahmann2000). The case study is presented in five sections: diagnosis and medical intervention; assessment battery; language evaluation at 10;9 years; language evaluation at 11;9 years; and cognitive functions of the cerebellum.

Diagnosis and medical intervention

The girl presented with a three-month history of poor balance, nausea, intermittent vomiting and dizziness. A MRI scan was performed at 9;11 years. It revealed a 2-cm mass in the anterior cerebellum, just to the right of the midline and adjacent to the right posterior aspect of the fourth ventricle. The mass was a low-grade ependymoma. Treatment was initiated. It consisted of total surgical removal of the mass and an eight-week course of radiotherapy. Radiotherapy involved the administration of 54 Gy (Gray) to the cranial posterior fossa in 30 fractions using 6-MV photons via the right and left posterior oblique fields.

Assessment battery

The girl underwent a wide-ranging assessment of her general and high-level language skills. Several tests were used for this purpose. The Clinical Evaluation of Language Fundamentals (CELF3; Semel et al., Reference Semel, Wiig and Secord1995) tests a child's syntax/morphology, semantics and pragmatics through a series of expressive and receptive language subtests. For example, a child may be asked to point to one of four pictures in response to an orally presented stimulus to test comprehension of sentence structure, and to list as many words as possible within a given category in 1 minute. The Hundred Pictures Naming Test (Fisher and Glenister, Reference Fisher and Glenister1992) is a confrontation naming test that is designed to evaluate rapid naming ability. One hundred line drawings of noun objects which are familiar to both children and adults are used. The Peabody Picture Vocabulary Test (PPVT-III; Dunn and Dunn, Reference Dunn and Dunn1997) is one of the most commonly used, standardised tests of receptive vocabulary. Test items, each of which has four corresponding black-and-white illustrations, are arranged in 17 sets of 12 in order of increasing difficulty. The examiner says a word and the examinee must select the picture that best illustrates the meaning of the stimulus word. The Test of Language Competence – Expanded Edition (TLC; Wiig and Secord, Reference Wiig and Secord1989) is used to diagnose disorders of higher-level language function. Subtests examine a range of pragmatic language skills: Ambiguous Sentences; Listening Comprehension: Making Inferences; Oral Expression: Recreating Speech Acts; and Figurative Language. There is also a supplemental memory subtest. The Test of Word Knowledge (TOWK; Wiig and Secord, Reference Wiig and Secord1992) identifies students who lack the semantic skills that are the foundation of mature language use in thinking, learning and communication. The test contains a series of subtests that assess various aspects of semantic development and lexical knowledge: Knowledge of Figurative Language; Multiple Meanings; Conjunctions and Transition Words; and Receptive and Expressive Vocabulary. The Test of Problem-Solving – Elementary, Revised (Bowers et al., Reference Bowers, Huisingh, Barrett, Orman and LoGiudice1994) is a diagnostic test of problem-solving and critical thinking. It assesses an individual's language-based thinking abilities and strategies using logic and experience. Due to the holistic nature of critical thinking and problem-solving, the test is not divided into subtests. Responses to tasks reveal skills in problem-solving, determining solutions, drawing inferences, empathising, predicting outcomes, using context cues and vocabulary comprehension.

Language evaluation at 10;9 years

At 10;9 years the girl underwent extensive testing of her language skills. Six weeks prior to testing, the girl had an MRI scan which revealed no evidence of recurrent tumour. Standard scores on the receptive language, expressive language and total language components of the CELF-3 were above the normal range. All CELF-3 subtest standard scores were either within or above the normal range. The standard score on the PPVT-III was also above the normal range. The girl named 93 of 100 objects correctly on the Hundred Pictures Naming Test. Standard scores on the receptive and expressive composites of the Test of Word Knowledge were also within the normal range. The performance on subtests that examined the reception of synonyms, word opposites, figurative language and vocabulary was within the normal range. Performance on expressive subtests of word definitions and vocabulary was also within the normal range. On the Test of Language Competence the girl did not exhibit difficulty drawing inferences during listening comprehension or interpreting figurative language. Her performance on expressive subtests of the TLC was also within the normal range. The one assessment where the girl's performance was judged to be poor was the Test of Problem Solving. Her standard score of 78 on this test placed her outside the normal range of 85 to 115.

Language evaluation at 11;9 years

At 11;9 years the girl underwent follow-up language evaluation. This was 12 months after the first language evaluation, and nearly two years after the MRI scan which resulted in the diagnosis of her tumour. Her standard scores on the CELF-3, the PPVT-III, the TOWK and the TLC were still within the normal range or exceeded the normal range (receptive language on the CELF-3). Her naming performance on the Hundred Pictures Naming Test was almost unchanged at 95 objects out of 100 named correctly. However, there was a significant deterioration on the Test of Problem Solving (TOPS). Although her TOPS standard score was previously also outside of the normal range, it was now more than 2 standard deviations below the normal range.

Cognitive functions of the cerebellum

The authors of this study argue that their findings contribute to a growing body of evidence which suggests a role for the cerebellum in language and cognition. Alongside the high-level language deficits of this girl, studies have demonstrated a range of cognitive-language disorders in children who have received treatment for cerebellar tumours. De Smet et al. (Reference De Smet, Baillieux, Wackenier, De Praeter, Engelborghs, Paquier, De Deyn and Mariën2009) reported language and cognitive deficits in five of eight children following posterior fossa tumour resection. Language deficits included agrammatism, anomia, impaired verbal fluency and comprehension deficits. Neurocognitive deficits included executive dysfunctions, concentration deficits and visuo-spatial disorders. All children presented with behavioural and affective disturbances. Aarsen et al. (Reference Aarsen, Paquier, Arts, Van Veelen, Michiels, Lequin and Catsman-Berrevoets2009) found that children with cerebellar pilocytic astrocytoma had significantly lower scores than the normal population on tests of sustained attention and speed, long-term visual–spatial memory, executive functioning and naming. In an earlier investigation (Aarsen et al., Reference Aarsen, Paquier, Reddingius, Streng, Arts, Evera-Preesman and Catsman-Berrevoets2006), children with infratentorial cerebellar tumours were also shown to have long-term social and behavioural problems. The cluster of disturbances of executive function, impaired spatial cognition, linguistic difficulties and personality changes is, these authors report, referred to as the cerebellar cognitive affective syndrome.

Introduction

The following exercise is a case study of a 39-year-old woman who was studied by Murdoch and Chenery (Reference Murdoch and Chenery1990). This woman presented with the features of a latent aphasia and flaccid dysarthria 20 years after receiving a course of radiotherapy following surgical excision of a pituitary fossa tumour. Speech, language, hearing and swallowing disorders are common sequelae of cranial irradiation for the treatment of brain tumours. Gonçalves et al. (Reference Gonçalves, Radzinsky, da Silva, Chiari and Consonni2008) found speech, language and hearing symptoms in 42% of a sample of 190 children and adolescents with brain tumours. Mei and Morgan (Reference Mei and Morgan2011) reported dysarthria and dysphagia to affect around one in three children who underwent surgery for posterior fossa tumour. Ribi et al. (Reference Ribi, Reilly, Landolt, Alber, Boltshauser and Grotzer2005) reported language deficits in 56% of their sample of 26 survivors of paediatric medulloblastoma. The case study is presented in five sections: history and referral; neurological and neuroradiological evaluation; neuropsychological evaluation; speech evaluation; and language evaluation.

History and referral

The client is a 39-year-old, right-handed woman who underwent intracranial surgery at 16 years of age for the removal of a posterior fossa tumour. Following surgery, the client received radiotherapy which involved the administration of 6,000 rads of radiation to the tumour site. Twenty years post-surgery, the client's family reported deterioration in her speech. Prior to that time, her speech had been normal. Speech intelligibility was noted to be impaired by increasing hypernasality. The use of a palatal lift prosthesis was unsuccessful in addressing the client's hypernasality. The woman was referred for investigation of her hypernasal speech three years after the onset of her speech disorder.

Neurological and neuroradiological evaluation

Two months prior to referral for speech and language evaluation, the client underwent a neurological examination. This revealed a malfunction of the Xth cranial nerve bilaterally. There was no hemiplegia or hemisensory loss, and deep tendon reflexes were mildly hyperactive on the right. No visual field defect was demonstrated by confrontation, and no Babinski sign was evident. Other general examination revealed no abnormality. A CT scan was also conducted prior to referral. It revealed central focal calcification at the pontomesencephalic junction and scattered throughout the pons and medulla. Both thalami and the anterior limb of the left internal capsule also exhibited calcification. The lenticular nucleus was involved in the calcification of the anterior limb of the left internal capsule, while the ventrolateral nucleus was the most significant area of calcification in the left thalamus. The CT scan further revealed dilation of both lateral ventricles. The frontal horn and body of the right lateral ventricle were particularly enlarged. The third ventricle was also dilated.

Neuropsychological evaluation

To establish the extent of any memory impairment or other cognitive dysfunction, a neuropsychological assessment was conducted. Four tests were used for this purpose: the Wechsler Adult Intelligence Scale – Revised (WAIS-R; Wechsler, Reference Wechsler1981); the Wechsler Memory Scale (Wechsler, Reference Wechsler1945); the Rey Auditory Verbal Learning Test (Rey, Reference Rey1964); and the Rey Figure (Rey, Reference Rey1941). On the WAIS-R, the client was identified as having difficulty in learning and utilising novel visual and verbal stimuli or information. She was also found to have problems in abstracting ‘general’ from ‘specific’ information in order to gain an understanding of the wider meaning of language, pictorial material and cause-effect relationships. The client displayed literal interpretation. Both performance and verbal IQ were within the low average range. The client's long-term memory and immediate memory were intact. In particular, she displayed learning and encoding of verbal material. Performance decrements were related to retrieval problems. The client scored below the 10th percentile on the Rey Figure test. Her copy was carried out in a relatively unsystematic fashion. There were no obvious difficulties with angles, orientation or neglect. Her recall of the figure revealed a profound retention deficit for complex material.

Speech evaluation

The client's speech production skills were assessed by means of the Frenchay Dysarthria Assessment (Enderby, Reference Enderby1983). It revealed that the client had a flaccid dysarthria which was associated with pharyngolaryngeal palsy. The client displayed considerable difficulty with eating and drinking. Frequent coughing and choking were noted, and there was occasional nasal regurgitation of fluid. Eating was very slow and the client's diet required modification. There was also some dribbling particularly when the client was not concentrating. There were no lip or jaw abnormalities. The tongue also appeared normal in appearance and function and there was normal lingual contribution to consonant articulation. However, the tongue was slow in performing alternating movements. Other speech production abnormalities were also observed. The client spoke quickly, with noticeable breaks in fluency and short phrase length. Her speech was severely hypernasal with noticeable nasal emission. The soft palate showed no elevation on phonation. There was a marked reduction in the length of phonation, poor control of volume and reduced pitch. Phonation was also husky. In terms of intelligibility, the client's speech was severely distorted, and she needed to repeat herself frequently. Fast rate, severe hypernasality and consequent consonant imprecision contributed to reduced intelligibility. Listeners relied on contextual and referential cues during conversation to comprehend the client.

Language evaluation

A wide-ranging language evaluation of the client was conducted. It revealed that she had a severe impairment in word fluency and sentence construction, with test scores in these areas placing her below the 20th percentile for normal subjects. On visual naming and the auditory comprehension of long and complex sentences, the client's scores placed her at the 40th and 32nd percentile, respectively. On tasks of sentence repetition, digit repetition forwards and digit repetition backwards, the client displayed well-preserved repetitional abilities. On the Boston Naming Test (BNT; Kaplan et al., Reference Kaplan, Goodglass and Weintraub1983), the client achieved a score of 29 out of 60. This score placed her more than two standard deviations below the score for normal subjects. Her naming errors included the following: ‘tomb’ for pyramid; ‘almond’ for acorn; ‘snake’ for pretzel; and ‘pen’ for dart. The remaining naming errors on the BNT were no responses. During naming, the client benefited from the use of phonemic cues and there were no phonemic paraphasias. There were also problems at the level of connected speech. The client exhibited reduced efficiency of information transfer as well as a reduction in the amount of information transferred. The client's language problems did not amount to an overt aphasia, and it was not possible to classify them as one of the classical cortical aphasia syndromes.

Introduction

The following exercise is a case study of a woman (‘RC’) aged 66 years who was studied by Hough (Reference Hough1993). RC developed Wernicke's aphasia which was characterised by neologistic jargon and a severe auditory comprehension deficit following two left-hemisphere strokes. For eight months post-stroke, an intervention which was aimed at managing RC's rambling communicative style and improving auditory comprehension met with no communicative or linguistic improvements. A new treatment regimen which emphasised reading was subsequently introduced. The case study is presented in five sections: primer on Wernicke's aphasia; client history and presentation; pre-intervention language assessment; new language intervention; and post-intervention language assessment.

Primer on Wernicke's aphasia

Aphasia is a common symptom in stroke patients. However, Wernicke's aphasia affects fewer stroke clients in comparison to other aphasia syndromes. Hoffmann and Chen (Reference Hoffmann and Chen2013) found aphasia in 625 (34.8%) of 1,796 stroke patients. Only 10 patients (1.6%) had Wernicke's aphasia which was principally caused by cardioembolism or a haemorrhage. Broca's, global, anomic and subcortical aphasias were all more common than Wernicke's aphasia. Yang et al. (Reference Yang, Zhao, Wang, Chen and Zhang2008) reported Wernicke's aphasia in 14.8% of aphasic patients, with Broca's, global and anomic aphasia all accounting for more cases of the disorder. Wernicke's aphasia is typically caused by stroke-induced damage of the language comprehension regions in the left temporoparietal cortex (Robson et al., Reference Robson, Zahn, Keidel, Binney, Sage and Lambon2014). However, this form of aphasia has also been found in patients with damage in other neuroanatomical areas (Jodzio et al., Reference Jodzio, Gąsecki, Drumm, Lass and Nyka2003), and some individuals with lesions in Wernicke's area on MRI display no language symptoms at all (Yang et al., Reference Yang, Zhao, Wang, Chen and Zhang2008).

Individuals with Wernicke's aphasia display impaired auditory comprehension and produce fluent, well-articulated speech. Spoken output may contain so many neologistic, phonological and/or verbal paraphasias that it is no longer understandable (so-called ‘jargon aphasia’). There is poor awareness of communication difficulties. In less severe cases, only the comprehension of complex sentences and low frequency and abstract words may be impaired, and there may only be occasional use of paraphasias. Although individuals with aphasia can produce long, complex sentences, these are often ungrammatical on account of incompleteness and erroneous grammatical constructions (‘paragrammatism’). The repetition of words and sentences, naming of objects and actions, silent reading and writing are usually severely affected. However, reading aloud can be more or less normal (Bastiaanse and Prins, Reference Bastiaanse, Prins and Cummings2014).

Client history and presentation

RC is a left-handed woman who sustained two strokes of the left cerebral hemisphere which were confirmed by CT scan and neurological examination. The CT scan after the first stroke revealed a lesion of the posterior portion of the first temporal gyrus, and RC was diagnosed as having Wernicke's aphasia. One month after the first stroke occurred, RC sustained a second cerebrovascular accident. On this occasion, the CT scan revealed the original lesion as well as an extension into the anterior portion of the supramarginal gyrus. A diagnosis of Wernicke's aphasia with jargon was made. Hough's first contact with RC took place seven months after the second stroke. To this point, RC had been receiving twice weekly speech therapy. Notwithstanding this intervention, she displayed differentiated, rambling, neologistic jargon. She was unable to repeat language, had poor auditory comprehension, and exhibited a lack of intrapersonal and interpersonal monitoring. RC's incessant verbalisations appeared to limit her ability to detect conversational cues from her environment. The interpretation of her messages was compromised by the fact that she frequently used prosodic patterns which were not appropriate to her communicative intentions.

Pre-intervention language assessment

At the onset of RC's second stroke and at seven months post-onset, RC's language skills were assessed using the Boston Naming Test (BNT; Kaplan et al., Reference Kaplan, Goodglass and Weintraub1983) and the Boston Diagnostic Aphasia Examination (BDAE; Goodglass and Kaplan, Reference Goodglass and Kaplan1983a). The second testing session occurred just before the introduction of a new therapy programme. RC's performance on both assessments was almost unchanged between onset and seven months post-onset. There was no change on the Boston Naming Test and the following subtests of the BDAE, all of which were rated ‘0’: word discrimination; complex ideational material; automatised sequences; repetition of words; repetition of phrases; word reading; responsive naming; animal naming; and oral sentence reading. There were negligible increases or decreases in the following BDAE subtests (scores at onset and at seven months post-onset are given in parentheses): body part identification (1;0); oral commands (0;1); visual confrontation naming (1;2); and reading comprehension of sentences and paragraphs (0;1). A score of ‘3’ was obtained on both sittings of the BDAE picture-word match subtest. The Aphasia Severity Rating remained unchanged at ‘0’ (no usable speech or auditory comprehension). Within the Rating Scale Profile, which scores items from 1 (severe impairment) to 7 (no impairment), articulatory agility (5;5) and melodic line (4;4) were areas of relative strength, with phrase length (3;4), grammatical form (2;3) and paraphasia (1;1) lagging behind. The results of these language assessments were confirmed by the report of RC's previous clinician. She reported that neither she nor RC's family had observed any improvement in RC's communicative interactions with others or in her ability to monitor her errors.

New language intervention

Until seven months post-onset, RC's language intervention included the use of picture categorisation tasks, auditory comprehension tasks, a communicative-oriented strategy similar to Promoting Aphasics’ Communicative Effectiveness (PACE; Davis and Wilcox, Reference Davis, Wilcox and Chapey1981, Reference Davis and Wilcox1985) and attempts to manage RC's rambling communicative style. These were discontinued at eight months post-onset because they had resulted in no general communicative or linguistic improvement in any modality. At this stage, a new language intervention was introduced. This emphasised the visual modality and in particular the use of visual comprehension tasks. All auditory and verbal stimuli and communicative interaction were withdrawn. This visual modality therapy emphasised written word and sentence comprehension tasks. RC was encouraged to match written words and sentences to pictures. She was presented with two words and asked if they matched each other along the following parameters: same/different (e.g. boy vs. boy), familiarity (e.g. fellow vs. yellow), same category (e.g. pants vs. dress; pants vs. apple), word class (e.g. pen vs. write), synonym (e.g. couch vs. sofa) and association (e.g. books/bookcase vs. books/rodeo). RC was also encouraged to follow instructions and answer questions. These varied in terms of length, structural complexity (e.g. active vs. passive), semantic plausibility (e.g. eat your lunch vs. eat your shoes) and contextual and linguistic redundancy (semantically supportive words within and outside the sentence boundary). Success in these tasks was defined as 90% accuracy over two consecutive sessions with a large number and variety of stimulus materials.

Post-intervention language assessment

After two months of the new language intervention, the Boston Naming Test and the Boston Diagnostic Aphasia Examination were repeated. There was some improvement in visual comprehension skills and verbal output in the form of naming ability. However, results on the BDAE revealed that there had been no improvement in auditory comprehension. Nevertheless, RC was observed and reported to respond more accurately in simple conversational situations with the examiner and her family. There was a decrease in neologistic jargon and corresponding increase in semantic jargon. Some of RC's responses on the BNT and the visual confrontation naming subtest of the BDAE are shown in the table below. At 10 months post-onset, RC's performance on comprehension tasks which required her to match written sentences to pictures ranged from 56% to 73% accuracy. Her performance was highest on 5-word and 7-word active sentences (73% and 62%, respectively), and lowest on 7-word reversible and non-reversible passive sentences (57% and 56%, respectively). In terms of following instructions, RC's best performance of 79% was recorded on 4-word instructions (e.g. Pick up the cup), with performances of 60% and 53%, respectively, obtained on 7-word, 2-item instructions (e.g. Point to the pencil and the cup) and 6-word instructions that used prepositions (e.g. Tap the spoon with the pencil). Finally, RC was able to answer 4–5 word yes–no questions with 82% accuracy. Four-to-six word what-, who-, when- and where-questions were answered with 59%, 51%, 50% and 54% accuracy, respectively.

Introduction

The following exercise is a case study of a woman (‘HW’) who was studied by Bastiaanse (Reference Bastiaanse1995). HW developed Broca's aphasia following a cerebrovascular accident (stroke) in August 1986. Aphasia is a common post-stroke sequela, which has been reported to occur in 30% of patients with first-ever ischaemic stroke (Engelter et al., Reference Engelter, Gostynski, Papa, Frei, Born, Ajdacic-Gross, Gutzwiller and Lyrer2006) and 34.8% of sub-acute stroke patients (Hoffmann and Chen, Reference Hoffmann and Chen2013). Broca's aphasia is the most common subtype, accounting for 27.2% of all aphasias in a large, sub-acute stroke population (Hoffmann and Chen, Reference Hoffmann and Chen2013). The case study is presented in five sections: history and initial assessment; assessment 15 months post-onset: part 1; assessment 15 months post-onset: part 2; focus on spontaneous speech: part 1; and focus on spontaneous speech: part 2.

History and initial assessment

HW is a right-handed woman and native speaker of Dutch. She is married and has two children, a 15-year-old son and a 12-year-old daughter. Prior to her stroke, HW did cleaning two mornings a week and was a ‘reading mother’ at a primary school. Her hobbies were reading, needlework and fishing. With the exception of a hearing impairment on the left side, HW was healthy prior to her stroke.

In August 1986, HW experienced sudden paralysis on the right side. She was aphasic and was hospitalised in an unconscious state. Upon regaining consciousness, HW was unable to speak. Her right limbs were paralysed and her vision was also impaired. A CT scan was conducted two weeks post-onset. It revealed an ischaemic infarct in parts of the temporal and frontal lobes, with damage extending to the left parietal lobe. At one month post-onset, HW was discharged from hospital and admitted to a rehabilitation centre. Her right arm was still not functional. However, the paresis of her right leg had decreased with the result that she was able to walk using a delta-stick.

At four months post-onset, HW underwent linguistic and neuropsychological assessment as an inpatient of the rehabilitation centre. It revealed that HW was suffering from a typical Broca's aphasia. HW displayed relatively intact comprehension of spoken language – her score on the Token Test was 56/61. Neuropsychological assessment revealed that HW had poor verbal memory due to retrieval deficiencies – she had a percentile score of 50 compared to aphasics. HW scored in the 7th decile compared to other aphasics on the Raven Coloured Progressive Matrices. No other neuropsychological deficits were found. In an attempt to improve HW's language abilities and help both her and her family cope with her aphasia, HW received speech therapy five times a week. Her language therapy focused on sentence construction, writing and text comprehension, using a programme for training sentence construction. HW also received physiotherapy, occupational therapy and the assistance of a social worker.

Assessment 15 months post-onset: part 1

At 15 months post-onset, a further assessment of HW's linguistic and neuropsychological abilities was performed. A percentile score of 100 was obtained on a verbal memory test. HW had a score comparable to an IQ of 110 on the Raven Standard matrix. Comprehension of nouns was intact at the previous assessment and was not examined again. Comprehension of verbs was assessed using a test in which HW had to select one of four action pictures. Alongside the correct picture, there are three semantically related distractors. HW displayed 100% correct performance on this assessment. A Dutch version of the Test for Reception of Grammar (TROG; Bishop, Reference Bishop1983) was used to assess HW's auditory comprehension of sentences. There were only two errors committed on this test. One error concerned the single–plural distinction of nouns, while the other error involved an embedded sentence. HW got 28 of the 30 items on the Token Test correct. Spontaneous speech was analysed and will be considered in units 25.4 and 25.5. HW named all 40 items correctly on the Dutch version of the Boston Naming Test (Kaplan et al., Reference Kaplan, Goodglass and Weintraub1983). HW's ability to retrieve low-frequency words was assessed using the Graded Naming Test (McKenna and Warrington, Reference McKenna and Warrington1983). HW named 15 of 30 items correctly, a score which is comparable to that of normal controls. Errors included circumlocutions and wrong interpretations of the picture. In a test of naming actions, HW named 37 out of 40 actions correctly. She used the infinitive form of verbs to name the actions. The three verbs which she could not name were: to carpenter (HW: to strike the nail into the plank), to moor (HW: to hang the boat on the hook) and to dig (HW: the man polders, the man shovels out the land, shovels hole).

Assessment 15 months post-onset: part 2

The repetition of single words and sentences was also assessed at 15 months post-onset. HW's repetition of words was intact. There was a slight impairment of sentence repetition, particularly in longer sentences. For example, when asked to repeat In the classroom all children were talking aloud, HW said ‘In the classroom all children talk loud’. To test sentence construction, a sentence anagram test and a subtest of the Aachen Aphasie Test (Graetz et al., Reference Graetz, De Bleser and Willmes1992) were used. The anagram test was performed with little difficulty. In the Aachen Aphasie Test, the items used and HW's responses were as follows:

Focus on spontaneous speech: part 1

At 15 months post-onset, an assessment of HW's spontaneous speech was also conducted. Extracts of HW's spontaneous speech will be examined in detail in units 25.4 and 25.5. In the extract below, the interviewer (INT) and HW are discussing HW's language problems

Focus on spontaneous speech: part 2

In this lengthier extract, also recorded at 15 months post-onset, the interviewer and HW are discussing Christmas and HW's new house.