Introduction
The following exercise is a case study of a girl (‘Louise’) aged 3;8 years with Kabuki make-up syndrome who was studied by Van Lierde et al. (Reference Van Lierde, Van Borsel and Van Cauwenberge2000). Kabuki make-up syndrome is a rare genetic syndrome which is characterised by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, intellectual disability and unusual dermatoglyphic (fingerprint) patterns (Matsumoto and Niikawa, Reference Matsumoto and Niikawa2003). For those with the disorder, speech, language and hearing can be adversely affected. The case study is presented in five sections: history and clinical presentation; clinical assessment; communication and cognition profile; focus on speech production; and clinical intervention.
History and clinical presentation
Louise is the second child of healthy, non-consanguineous parents. Her sister, who is 2 years older, is healthy. After a complicated pregnancy, Louise was born at 37 weeks of gestation weighing 2.610kg. A fetal right chylothorax was detected at 20 weeks of pregnancy. (A chylothorax is the presence of lymphatic fluid in the pleural space secondary to leakage from the thoracic duct or one of its tributaries.) Karyotyping by amniocentesis was undertaken and was found to be normal. At birth, Louise was observed to have a high-arched palate with a submucous cleft. She also exhibited generalised hypotonia. The following postnatal investigations were normal: an electroencephalogram, a computed tomography scan of the brain, electromyography and metabolic screening. An internal strabismus with mild nystagmus was revealed during an ophthalmologic examination. Louise had transtympanic drains fitted at 11 months, 18 months and 2 years. At 2;4 years, a hearing examination revealed pure-tone thresholds within the normal range. This examination was repeated at 3;0 years and again revealed normal hearing. Oto-acoustic emissions were also detected. A team of geneticists and dysmorphologists diagnosed Louise at 3;1 years as having Kabuki make-up syndrome (KMS). The diagnosis was based on the presence of facial characteristics (e.g. arched eyebrows), a high-arched palate with submucous cleft, fingertip pads, a foot deformity, broad thumbs, a mild to moderate delay in motor development, and postnatal growth deficiency. At 3;4 years, an assessment of motor skills showed Louise to be at percentile 1 on the gross and fine motor scales of the Peabody Developmental Motor Scales (Folio and Fewell, Reference Folio and Fewell1983). A slight, general hypotonia was also observed.
Unit 2.1 History and clinical presentation
(1) There is evidence of an otological abnormality in Louise's clinical history. You should (a) state what that evidence is, (b) indicate what type of hearing loss (conductive or sensorineural) is associated with the otological defect in question and (c) explain how the placement of transtympanic drains can serve to correct the hearing loss.
(2) The history states that oto-acoustic emissions were detected during a hearing examination. What is the significance of these emissions?
(3) Is Louise's middle ear defect related to her palatal abnormality? If you answer ‘yes’, provide an explanation.
(4) Is there any evidence in the history to suggest that Louise may experience a speech disorder of neurogenic aetiology?
(5) KMS is a genetic disorder. The American Speech-Language-Hearing Association (ASHA) states that as genetic research continues ‘it will become increasingly critical that audiologists and speech-language pathologists understand principles of genetics, genetic testing and genetic counselling’ (ASHA, 2005a). Describe one way in which knowledge of the genetics of this syndrome might assist a speech-language pathologist in understanding the features of Louise's clinical history.
Clinical assessment
The Dutch version of the McCarthy Developmental Scales (Van der Meulen and Smrkovsky, Reference Van der Meulen and Smrkovsky1986) was used to assess Louise's cognitive level. Language was assessed by means of the Dutch version of the Reynell Developmental Language Scales (Schaerlaekens et al., Reference Schaerlaekens, Zink and Van Ommeslaeghe1993). Louise's voice was assessed by an otorhinolaryngologist and two voice therapists. The otorhinolaryngologist conducted nasolaryngoscopy. The voice therapists used the GRBAS scale (Hirano, Reference Hirano1981) to assess Louise's voice. In order to determine the fundamental frequency of Louise's voice, she was asked to sustain the vowel /a/ for 4 seconds into a microphone. The instrumentation used in this analysis was the Multi-Dimensional Voice Program (model 4305) from Kay Elemetrics Corporation. A picture naming test which consisted of 135 black-and-white drawings of common objects and actions was used to assess Louise's articulation skills. The speech data obtained from this assessment were analysed independently of their relation to the adult targets as well as in relation to the adult standard forms. Three relational analyses were used: phonotactic analysis; phonetic analysis; and phonological process analysis.
Unit 2.2 Clinical assessment
(1) Which of the above tests is (a) a standardised assessment of receptive and expressive language, (b) a perceptually based assessment of voice and (c) an assessment of a child's IQ?
(2) One of the instrumental techniques used to assess Louise's voice was nasolaryngoscopy. Describe how this procedure is performed and what it may be used to assess.
(3) The fundamental frequency of Louise's voice was assessed. Which perceptual attribute of voice is fundamental frequency related to?
(4) Only common objects and actions were depicted by the drawings in the picture naming test. Why is this important?
(5) Which of the following statements best describes what is involved in a phonotactic analysis?
consonant and vowel productions are compared with target productions and ana-lysed for error types at the segmental level
an analysis is undertaken of the child's productions to establish if they retain the correct syllable structure of words
the child's productions are analysed for error types beyond the segmental level
Communication and cognition profile
Louise was found to have normal cognitive functioning. Her mean cognitive score was 98. Louise scored at the 60th percentile for receptive language on the Dutch version of the Reynell Developmental Language Scales. She was able to understand a range of named objects, verbs and adjectives. She was also able to respond correctly to instructions that involved an action–object semantic relation. Certain ‘wh’ questions were understood and there was evidence of emerging comprehension of passive sentences. However, it was still difficult for Louise to understand sentences such as ‘The dog is bitten by the rabbit’. Louise was able to understand utterances such as ‘John pushes the baby. Who is naughty?’, a number of spatial prepositions and some terms relating to the size of objects. She could also comprehend primary colours. Louise's expressive language skills exhibited strengths and weaknesses. She was at the 75th percentile in her ability to produce the names of items in the Reynell and to define concrete words (e.g. soap) and abstract words (e.g. being hungry). Louise performed at the 30–40th percentile on the expressive semantics subtest of the Reynell. She was able to express semantic relations of two elements (e.g. ‘prepare dinner’) during story telling based on pictures (e.g. setting the table). However, she was unable to capture the general theme of the depicted situations. Louise's worst area of expressive language (20th percentile) was her morphosyntactic abilities. Nouns, verbs and personal pronouns were the only word classes produced. She made use of singular and plural nouns, but did not use irregular plural forms. Louise also used some nouns with diminutive endings. Verbs only occurred in infinitive form. There were no examples of third-person singular verbs, past participles or future tense verbs. Compound sentences involving either coordination or subordination were completely absent. A negative sentence was occasionally produced. Louise's expressive output only contained sentences of two or three words, with an average of 2.4 words per sentence.
Nasolaryngoscopy failed to reveal any organic or functional voice disorder. Normal results were obtained on all perceptual and instrumental analyses of the voice. The results of the articulation assessment are examined below.
Unit 2.3 Communication and cognition profile
(1) Louise displayed relatively strong receptive language skills on the Reynell Developmental Language Scales. Based on the above description of these skills, how would you characterise her comprehension of each of the following items? kiss the doll; beside; smallest.
(2) Explain why Louise struggled to comprehend sentences like ‘The dog is bitten by the rabbit’ despite showing emerging comprehension of passive sentences.
(3) Louise was able to comprehend utterances such as ‘John pushes the baby. Who is naughty?’ Which of the following is suggested by her comprehension of these utterances?
Louise has intact comprehension of relative clauses.
Louise is able to understand semantic relations of two elements.
Louise is able to draw inferences based on language and world knowledge.
Louise has intact comprehension of subordinate clauses.
Louise has intact comprehension of locative prepositions.
(4) Louise's expressive language skills were most impaired in the area of morphosyntax. Based on the above description of these skills, which of the following forms was Louise able to produce and which forms did she not use? Explain your response in each case: will come; cups; mice; dog; gone; she; run; walks; John likes oranges and Mary likes apples.
(5) Louise was unable to capture the general theme of a depicted situation. Impairments of several cognitive and language skills might account for this difficulty. Which of the following deficits might explain Louise's specific difficulty in this area?
Focus on speech production
Phonetic inventory: Louise could correctly produce all Dutch vowels and 68% of Dutch consonants. She could not produce correctly the nasal /ɲ/ and the fricatives /f/, /v/, /ʃ/, /Ʒ/ and /h/.
Phonotactic analysis: Target syllables were usually retained. A change in syllable structure occurred in only 10% of words.
Phonetic analysis: Compared to target productions at the segmental level, 55% of Louise's consonants were in error and 21% of her vowels. Consonant errors included omissions, substitutions, distortions and additions. Substitutions were the most common error type. The most common types of distortion errors were dentalisation, labiodentalisation, devoicing, weak articulation, mild to moderate hypernasality and moderate nasal emission. Vowel errors included lowering, backing, neutralisation (replacement by a schwa) and unrounding of a target rounded vowel.
Phonological process analysis: Syllable structure processes are present including cluster reduction (affecting /s/-, /t/- and /R/-blends), final and initial consonant deletion (the former chiefly affecting final /k/) and deletion of unstressed syllables. The following substitutions were in evidence, some of which are shown in the table below.
(a) /p/ → /f/; /b/ → /v/; /k/ → /X/; /k/ → /s/; /t/ → /f/
(b) /s/ → /t/; /z/ → /b/
(c) /k/ → /t/; /ɣ/ → /p/
(d) /f/ → /j/
| Dutch word | English word | Phonemic norm | Client production |
|---|---|---|---|
| sigaret | cigarette | [siˠɑRɛt] | [sizɑRɛt] |
| boekentas | satchel | [bukəntɑs] | [pupətɑs] |
| fiets | bicycle | [fits] | [sis] |
| kapstok | clothes hanger | [kɑpstɔk] | [tɑtɔk] |
| zwart | black | [zwɑrt] | [vɑt] |
| gieter | watering-pot | [ˠitər] | [Ritə] |
| kraan | tap | [kra:n] | [ka:n] |
| kruis | cross | [krœYs] | [Xœys] |
| worsten | sausages | [wɔrstən] | [wəs] |
| borstal | brush | [bɔrstəl] | [bɔtəl] |
| wolken | clouds | [wɔlkən] | [wɔk] |
| jongen | boy | [jɔŋən] | [ɔŋə] |
| kop | head | [kɔp] | [tɑp] |
| klok | clock | [klɔk] | [slɔk] |
Unit 2.4 Focus on speech production
(1) Louise's speech production displays mild to moderate hypernasality and moderate nasal emission. Which feature(s) of her clinical presentation might explain this articulatory deviance?
(2) Which phonological processes are exemplified by the substitutions in (a) to (d) above? Which of these processes occur in ‘kruis’ and ‘kop’ in the table?
(3) Give one example of each of the following phonological processes in the above data.
Progressive assimilation
Regressive assimilation
Metathesis
Syllable deletion
Final consonant deletion
(4) What feature do the following productions have in common?
Word initial /kr/ in ‘tap’ and ‘cross’
Word medial /rst/ in ‘sausages’ and ‘brush’
Final syllable /ən/ in ‘clouds’ and ‘boy’
Word initial /k/ in ‘head’ and ‘clock’
Clinical intervention
Van Lierde et al. (Reference Van Lierde, Van Borsel and Van Cauwenberge2000) recommend the use of ‘tailor-made’ therapy with children who have KMS. They consider this approach to be warranted by the considerable variation that occurs in communication skills both between children with KMS and within individual children with this syndrome. The latter was particularly evident in Louise's case. She displayed a number of intact skills and areas of performance that were within normal limits. For example, Louise had normal cognitive functioning, good receptive language skills and her production of speech sounds was within normal limits for her age. There were also no vocal or laryngeal abnormalities. However, Louise also had considerable difficulties. For example, she had particularly poor expressive language skills in the area of morphosyntax. Although Louise's hearing was within normal limits, she had a history of otitis media that required the placement of transtympanic drains. She also had a submucous cleft palate, slight general hypotonia and poor gross and fine motor skills. Also, her speech sound production was highly variable, and she displayed persisting normal phonological processes, and processes that are uncharacteristic of normal development. Louise also exhibited hypernasality and moderate nasal emission. According to Van Lierde et al., this pattern of communication abilities and impairments cannot be explained by general developmental delay, structural deviations of the speech apparatus, hearing loss or specific language impairment. This pattern, these authors argue, is ‘somewhat reminiscent’ of a phonologic–syntactic disorder.
Unit 2.5 Clinical intervention
(1) Which of the following interventions might play a part in Louise's ‘tailor-made’ therapy?
(2) Is there any basis for the inclusion of a treatment that is based on principles of motor learning of the type used to treat apraxia of speech? Justify your response.
(3) The presence of persisting normal phonological processes, and processes which are uncharacteristic of normal development, suggests the need for some type of phonological treatment as part of Louise's wider communication intervention. Name one such treatment. Also, what evidence is there to support the efficacy of the phonological treatment that you have chosen?
(4) The presence of hypernasality and nasal emission suggests that Louise has velopharyngeal dysfunction (VPD). Blowing and sucking exercises are often used in the treatment of VPD. Are these techniques considered to be effective in the treatment of VPD?
(5) One of the reasons it is so difficult to decide on an appropriate course of intervention in Louise's case is that the diagnosis of her communication disorder is not without complication. In this way, Van Lierde et al. state that her communication problems do not occur (a) as part of a general developmental delay or (b) are a form of specific language impairment. Explain why the diagnoses in (a) and (b) are not appropriate in Louise's case.
