Brief report: four case histories and a literature review of Williams syndrome and autistic behavior.
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Biomedical subjects
Publications and source records attributed to C Gillberg.
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The Birleson DSRS, a depression self-rating scale for children, was evaluated in a group of adolescent psychiatric inpatients and a community-based group of adolescents. The DSRS was a valid measure of depression but slightly less powerful with these patients than with children. The DSRS might be a useful tool for screening of depressive symptoms, at least in clinical settings.
OBJECTIVE: Controlled study of intermediate term outcome of representative cases with adolescent-onset anorexia nervosa. METHOD: A group of 51 cases with anorexia nervosa with a mean age of reported onset of 14.3 years (including a total population of cases from one birth cohort) were compared with a sex-, age-, and school-matched group of 51 comparison subjects on various measures of outcome at a mean age of 21.0 years (6.7 years after reported onset and 4.9 years after the original diagnostic study). There was no attrition. This paper reports on results obtained using the Morgan-Russell scales. RESULTS: Forty-seven percent of the anorexia nervosa cases reported that they were recovered. In the unrecovered group all aspects of outcome were worse in the anorexia nervosa than in the comparison group. Differences between the two groups were particularly pronounced with regard to aspects of social relationships. CONCLUSIONS: Outcome was fairly similar to that reported in recent clinic-based samples. Poor outcome was associated with the presence of empathy deficits (problems understanding about other people's perspectives and difficulties interacting reciprocally). There is a need to find ways of subgrouping anorexia nervosa cases at onset. The subgroup with empathy deficits warrants more intensive study in future research and clinical practice.
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Fifty-six cases with childhood onset deficits in attention, motor control and perception (DAMP) were followed-up at age 16 years and compared with 45 children without DAMP. Both groups had originally been recruited from the general population at the age of 6 years. Psychiatric disorders (affective disorders in particular) were more common in the DAMP group. Personality disorders were common in both groups, but the DAMP group much more often had a combination of several different personality disorders. The reasons for the discrepancies between teenagers with and without a prior history of DAMP are discussed.
In a population-based sample of 28 individuals under the age of 20 years, autistic symptoms were present in 24 and DSM-III-R autistic disorder in 17. Many of the children and adolescents diagnosed as autistic also showed attention deficit/hyperactivity. There was no specific association between autistic behaviour and the presence of infantile spasms. Some of the children with tuberous sclerosis and autism were of near-normal intelligence. Indirectly, the results suggest that as many as 9 per cent of all children with autism may have tuberous sclerosis.
Of a population of 100 Swedish thalidomide embryopathy cases, at least four met full criteria for DSM-III-R autistic disorder and ICD-10 childhood autism. Thalidomide embryopathy of the kind encountered in these cases affects fetal development early in pregnancy, probably on days 20 to 24 after conception. It is argued that the possible association of thalidomide embryopathy with autism may shed some light on the issue of which neural circuitries may be involved in autism pathogenesis.
Fifty-one cases of anorexia nervosa (AN) and 51 age-, sex- and school-matched controls, all drawn from a community sample of 15- to 16-year-olds, were compared at 16 and 21 years with regard to physical health and neurodevelopment. The AN group had significantly lower mean height than the comparison group at age 21 years. There were significantly more individuals that were overweight and underweight in the AN group at age 21 years. Fractures were slightly, but significantly, more common. Dysdiadochokinesis was very much more common in the AN group at both ages, and its occurrence was not correlated with low weight. It is suggested that diadochokinesis in AN might mirror some inherent underlying immaturity or other abnormality of the central nervous system in a subgroup of cases. The presence of dysdiadochokinesis was associated with a tendency towards poorer psychosocial outcome, even in cases that were no longer underweight.
Two samples of patients with DSM-III-R anorexia nervosa, one identified by screening of a total population cohort and the other a mixed screening and referral group, were contrasted with a comparison group of sex-, age- and school-matched individuals. The rates and types of services consulted and treatment given were analyzed. The groups with anorexia nervosa tended to differ somewhat in these respects, although the numbers were too small for meaningful statistical calculations to be made. Only half of the total population sample had ever received any treatment for the eating disorder, even many years after anorexia nervosa onset in the teenage period. The implications of these findings are discussed both in terms of clinical needs and as they relate to previous research in anorexia nervosa, which has almost exclusively referred to non-population-based groups of patient.
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The cerebrospinal fluid (CSF) of 47 children and adolescents with autism was analyzed for the contents of two astroglial proteins, the glial fibrillary acidic protein (GFA) and S 100. The results were contrasted with those obtained in similarly aged cases with other neuropsychiatric disorders (n = 25) and in normal children (n = 10). S-100 did not discriminate the groups from each other. However, GFA in autism and autistic-like conditions was at a level almost three times that in the normal group. The results could implicate gliosis and unspecific brain damage in autism. An alternative model would be increased synapse turnover regardless of underlying cause.
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Childhood autism is conceptualized as a behavioural syndrome with several different aetiologies. Its prevalence is estimated at about one in every thousand children born. The male:female ratio is considerably higher than in the general population, but possibly not as high as 3-4:1 (as has been suggested for almost 50 years in the literature). A number of specific medical conditions are associated with autism and a comprehensive medical work-up is required in all cases with pervasive autistic symptomatology. Genetic factors contribute to the development of autism in some cases. Recent neurobiological and psychological studies contribute to a concept of the autistic syndrome as but one of several different syndromes characterized by impaired empathy skills.
Fifty-five cases who had been diagnosed in adolescence as suffering from a psychotic condition while attending a child or adult psychiatric clinic were compared with age-, sex- and school-matched cases with respect to various outcome measures at age 30 years. Overall, the outcome for young people who need psychiatric care for psychotic conditions in adolescence appears to be gloomy with respect to psychosocial adjustment. There were clear differences in outcome depending on specific psychosis diagnosis category at the time of original diagnosis. Females tended to have better outcome than males, but differences were small and not conclusive in this respect.
This paper describes a total population study of Asperger syndrome using a two-stage procedure. All school children in an outer Göteborg borough were screened. Final case selection based on clinical work-up showed a minimum prevalence of 3.6 per 1.000 children (7-16 years of age) using Gillberg and Gillberg's criteria and a male to female ratio of 4:1. Including suspected and possible Asperger syndrome cases, the prevalence rose to 7.1 per 1.000 children and the male:female ratio dropped to 2.3:1. These findings are discussed as they relate to previously published results in the field and to findings obtained using Szatmari et al.'s and ICD-10 draft criteria for the disorder.