[One child out of a thousand is affected by autism. Sweden has leading position in pediatric neurology/psychiatry].
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Biomedical subjects
Publications and source records attributed to C Gillberg.
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The prevalence of autism spectrum disorders was studied in all children with mental retardation and/or motor disability in a defined geographical region over a two-year follow-up period. In the general population, the prevalence of autistic disorder was 0.09% at the end of the follow-up period -a minimum estimate, as children with average intelligence were not screened. Autism spectrum disorders were found in 19.8% of children with mental retardation, including strictly defined autistic disorder (DSM-III-R criteria) in 8.9%; the two-year follow-up yielded a higher prevalence of 11.7% with autistic disorder. Among children with cerebral palsy, 10.5% had an autism spectrum disorder. Clear co-variation was found between mental retardation, epilepsy and autism spectrum disorders in this population of children with neurodevelopmental disorders.
The Autism Behavior Checklist (ABC) was used as a screening instrument in a study of autism spectrum disorders in a population of children with mental retardation or physical disability or both. The ABC score clearly reflected behavioural problems found in children with mental retardation and not only behaviours typical of autism. If the cut-off score used was 45 (lower than recommended by the original investigators), children with autistic disorder without multiple other disabilities were reliably identified, with an acceptable rate of false positive cases. In order not to miss other autism spectrum disorders, all cases with several omitted items in their checklists were examined in more detail. The Childhood Autism Rating Scale (CARS) distinguished reasonably well between autistic disorder and other autism spectrum disorders.
The authors reviewed all the population studies on autism published in the English language with particular reference to the rate of medical disorders. Seven studies met criteria for inclusion in the survey. The mean of possibly autism-related medical disorders in persons with autism across these studies was 24.4%. There was a trend for higher rates of medical disorders among subjects with severe mental retardation. The evidence in respect of atypical autism was equivocal, and the overall prevalence of medical disorders in this group was similar to that found in typical autism.
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Extra structurally abnormal chromosomes (ESACs) are small supernumerary chromosomes often associated with developmental abnormalities and malformations. We present 50 probands with ESACs characterized by fluorescence in situ hybridization using centromere-specific probes and chromosome-specific libraries. ESAC-specific libraries were constructed by flow sorting and subsequent amplification by DOP-PCR. Using such ESAC-specific libraries we were able to outline the chromosome regions involved. Twenty-three of the 50 ESACs were inverted duplications of chromosome 15 [inv dup(15)], including patients with normal phenotypes and others with similar clinical symptoms. These 2 groups differed in size and shape of the inv dup(15). Patients with a large inv dup(15), which included the Prader-Willi region, had a high risk of abnormality, whereas patients with a small inv dup(15), not including the Prader-Willi region, were normal. ESACs derived from chromosomes 13 or 21 appeared to have a low risk of abnormality, while one out of 3 patients with an ESAC derived from chromosome 14 had discrete symptoms. One out of 3 patients with an ESAC derived from chromosome 22 had severe anomalies, corresponding to some of the manifestations of the cat eye syndrome. Small extra ring chromosomes of autosomal origin and ESACs identified as i(12p) or i(18p) were all associated with a high risk of abnormality.
This paper reports on the effect of using an interactive and child-initiated microcomputer program (Alpha) when teaching three groups of children (N = 30) reading and communications skills: (a) 11 children with autism (M chronological age, CA = 9:4 years), (b) 9 children with mixed handicaps (M CA = 13:1), and (c) 10 normal preschool children (M CA = 6:4 years). Their mental age varied from 5:8 years to 6:9 years and all children received computer instruction supplementary to their regular reading and writing activities. Tests of reading and phonological development were carried out at the onset of the training (Start), at the end (Post 1), and at a follow-up evaluation (Post 2). In addition, video observations of the childrens' verbal and nonverbal communication were added at Start and Post 1. The children with autism increased both their word reading and their phonological awareness through the use of the Alpha program. Clearly significant gains were observed during the intervention, but none during the follow-up period. A similar but weaker pattern is observed for the children with mixed handicaps. In contrast, the normal preschool children increased their scores regardless of the program. Analyses of the children's classroom behavior indicate that the intervention succeeded in stimulating verbal expressions among the children with autism and mixed handicap. A significant increase in enjoyment was also noted for the children with autism. It is concluded that the intervention with a motivating multimedia program might stimulate reading and communication in children with various developmental disabilities, but that such interventions must be individually based and include both detailed planning and monitoring from teachers, and parents, as well as from clinicians in charge.
Three boys diagnosed as suffering from autistic disorder were born in Sweden to mothers born in Uganda. Two were related but the third boy was unrelated to the others. The prevalence for autistic disorder in Göteborg children born to mothers who were born in Uganda was 15% which is almost 200 times higher than in the general population of children. The possible reason for the high autism rate in this particular ethnic subgroup is discussed.
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The purpose of this study was to ascertain whether parental age and parental pre-conceptional exposure to various agents differentiated children with Prader-Willi syndrome (PWS) from obese children without PWS. Two groups of patients under 25 years of age were studied, 15 persons with PWS, and 13 with PWS-like symptoms. In the PWS group deletions were detected on chromosome 15q11-q13 and parents were older. The parents' occupational and recreational exposure to environmental toxins was recorded and correlated to the clinical diagnosis, genetics and behaviour characteristics. Paternal exposure to gasoline/petrol was significantly higher in the PWS group and is suggested as a possible important factor in the aetiology of PWS.
Endogenous opioid dysfunction hypotheses for the development of autism are reviewed, along with clinical empirical studies of opiate antagonists in autism and self-injurious behaviour. There is not yet sufficient evidence to suggest the use of opiate antagonists in the treatment of autism. Further research, particularly of natrexone in severe self-injury, is warranted.
OBJECTIVE: To study the prevalence of tuberous sclerosis in children and adolescents. DESIGN: Previously published diagnostic criteria for tuberous sclerosis were used. All physicians likely to encounter young patients with tuberous sclerosis were contacted by way of a screening questionnaire. SETTING: The study was performed in a circumscribed geographic area (western Sweden). PATIENTS AND OTHER PARTICIPANTS: The sample was population based. However, only patients with such severe and early symptoms that referral to a physician had been considered necessary and relatives of these patients with tuberous sclerosis could be included. This was because there is currently no diagnostic marker for tuberous sclerosis that could be used as a screening tool. RESULTS: The peak prevalence (one in 6800 individuals) for tuberous sclerosis was found in the 11- to 15-year-old age group. For the whole age cohort, 0 to 20 years, the prevalence was one in 12,900 individuals. CONCLUSIONS: The prevalence for the school-age group was the highest ever reported in the literature on tuberous sclerosis. However, it is likely that the true prevalence of tuberous sclerosis in the general population is even higher.
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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.