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.