The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

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Abstract
This boy was the only child of healthy, unrelated parents. The family history was negative with regard to autism or other developmental or psychiatric disorders. Pregnancy and delivery were uneventful. Early developmental milestones were normal; he walked at 15 months and first words appeared at 12 months. Phrasing speech occurred at 18 months. Already during infancy and early childhood, peculiar behaviour like an obsession with music, absence of joined attention, a limited play repertoire, and insistence on sameness were noticed, but this did not lead to further investigation until primary school age. At 3 years, attending nursery school, he did not speak for an entire year and had very little social contact with his peers. Hand flapping was noted and gross motor skills including swimming and cycling were delayed. At primary school, learning difficulties became apparent. These were mainly related to poor abstract reasoning and poor visuospatial abilities. He functioned at a borderline mental level (WISC full scale IQ of 86, with verbal IQ 94, performance IQ 80). Problems in social interactions remained present throughout his school career. At the age of 14, our subject had a child psychiatric assessment. At that time, he had no social contact with his peers, except a cousin. He had marked impairment in social interactions and reciprocity; eye contact was sporadic. Speech was monotonous and with inappropriate volume. He used to talk to himself in public and language content was echolalic and stereotypical. The subject stuck very much to routine, even pestering routines that were difficult to stop, and had stereotypical emotional reactions. The diagnosis of autism was made by means of a Dutch standardised questionnaire for autism spectrum disorders, the AUTI-R,9 and confirmed by an experienced child psychiatrist (LS), who found impairments in the three core domains of autism according to the DSM-IV criteria,1 and made the clinical diagnosis of autism. At the age of 15 years, physical examination was normal. There were no dysmorphic features. Height and head circumference were on the 90–97th centile and weight was above the 97th centile. Neurological examination was normal, as was a brain MRI.

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