Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patients have provided different conclusions on the nature of the motor disorder. The current study includes the results of a multi-centre international prospective study of the motor disorder in the largest cohort of patients studied to date. A total of 44 patients ranging from 2 to 38 years presented a characteristic motor syndrome that involved severe action dystonia superimposed on baseline hypotonia. Although some patients also displayed other extrapyramidal or pyramidal signs, these were always less prominent than dystonia. These results are compared with a comprehensive review of 122 prior reports that included a total of 254 patients. Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia.

Based on a sample of 222 children from four diagnostic groups, a high frequency of somnambulism in children suffering from migraine headache is reported. The strength of the association between somnambulism and childhood migraine raises the possibility that somnambulism might be considered as a minor diagnostic criterion in the clinical diagnosis of childhood migraine. This association may further clarify the nature of the serotonin abnormality underlying migraine.

On the basis of the distinguishing features of unpredictability, overt manifestation of symptom, and loss of control in epilepsy, a number of hypotheses about possible emotional concomitants of childhood epilepsy are offered. Comparing fifteen epileptic children with groups of diabetic and healthy children, matched for chronological age, sex, mental age, socioeconomic status, and family variables, the following findings emerged. Epileptic children are more likely than their diabetic or healthy peers to attribute control over even successful events in their lives to external sources. The perception of control by powerful others or by unknown factors was especially pronounced with regard to social events. In addition, epileptic children as a group were found to have lower self-concepts (particularly with regard to their popularity) and to be more anxious than their peers. The clinical and research significance of the findings are discussed.

Reports documenting psychosocial epiphenomena of chronic illness in individuals with that illness have been common in recent years. Few studies, however, have been concerned with how illness might affect the family. Those that have appeared in the literature often lack critical controls (i.e., control groups) and often fail to investigate possible links between illness-specific variables (i.e. chronicity, inhibition of mobility) and psychosocial outcomes on the family. The present study of 45 families focused on how children with epilepsy affect their families' functioning relative to families with a child with diabetes and families with no chronically ill members. The results suggest several areas of child and family adjustment (i.e. child self-concept, family communication, family cohesion) in which the families of epileptic children have great difficulty. Implications of these results are discussed with regard to differential influences of various chronic illnesses on families and family-based preventive and remedial treatment programs.

No abstract