Autistic features

Stone, R. L., Aimi, J. and Barshop, B. A. el al. A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. Nat. Genet. 1 59-63,1992. 

A trial published by Gillberg et al. (1997) comprised 62 children (52 males, 10 females), aged 6 11 years and meeting DSM-HI-R criteria for ADHD. The children suffered from severe attention deficits and 42% had comorbid diagnoses including mild mental retardation, autistic features, oppositional defiant disorder and tic disorder. They were included in a parallel-group, randomized, double-blind, place bo-cont ro 1 led study of amphetamine treatment. 

R.E. (m), with thymine-uraciluria, is the third child of healthy parents. The first child is healthy but the second one died of perinatal asphyxia. A few hours after birth the patient developed cyanosis with a mild respiratory distress. On the third day he developed also a pneumothorax. Furthermore there was a hyperbilirubinemia. Treatment was successful and at 3h weeks he was discharged. Psycho-motor development was normal until the age of Ih years. Then he de/eloped petit mal seizures which were treated. After one month treatment could be discontinued. The parents noticed that behavioural changes occurred after the onset of the seizures. Speech did not develop and his behaviour became solitary. At admission for evaluation of his developmental problems no physical abnormalities were seen. Psychological investigations revealed a normal intelligence with autistic features and the absence of auditory defects. 

Other clinical features Autistic features Hypertonia Severe toxicity 5-FU +... 

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