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):