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Biomedical subjects

C Gillberg

Publications and source records attributed to C Gillberg.

At least 109 records · Page 6Linked to original sources
PubMed1996

Heller syndrome in a pre-school boy. Proposed medical evaluation and hypothesized pathogenesis.

The case of a 6-year-old boy who developed childhood disintegrative disorder (Heller syndrome) at the age of 4 years is presented, and specifics of the neurologic evaluation are detailed. A table is provided suggesting the complete neurologic work-up with the potential findings for children presenting with signs and symptoms of deterioration. A hypothesis for the aetiology of Heller syndrome proposes that predisposing genetic factors when combined with an environmental stress result in the deposition of amyloid and the disruption of synaptic transmission during the deterioration period. Speculation that the deterioration may be self-limited by activation of an immune response is based upon earlier findings that interleukin 1 has been shown to be involved in the breakdown of amyloid precursor protein in humans.

Child↗
PubMed1996

Early detection of autism. Diagnostic instruments for clinicians.

Autism and Asperger syndrome are disorders with early childhood onset. They are believed to exist on the same spectrum of impairments of reciprocal communication and social interaction restriction of imagination and behaviour. A number of screening and diagnostic tools have been developed in the field, and several of these are briefly reviewed here. It is concluded that autism may be screened around age 18 months and a diagnosis reliably be made around age 30 months, whereas a diagnosis of Asperger syndrome is not usually suspected, screened or made until into the child's school age.

Adolescent↗
PubMed1996

Autism in immigrants: a population-based study from Swedish rural and urban areas.

In a population study, 55 children aged 13 years and under were diagnosed as suffering from autistic disorder according to DSM-III-R criteria. Fifteen of these children (27%) were born to parents, at least one of whom had migrated to Sweden. These 15 cases were analysed in some detail with a view to finding possible background factors that could account for the relatively high prevalence of autism among some immigrant populations. In a few cases, autism or Asperger syndrome had been diagnosed in a native Swedish parent who went abroad in order to find a spouse. In several other cases, the child was the first child born in Sweden after the mother had moved there. The contribution of genetic and other prenatal factors to autism in immigrant populations is discussed.

Adolescent↗
PubMed1996

Autism and epilepsy (and tuberous sclerosis?) in two pre-adolescent boys: neuropsychiatric aspects before and after epilepsy surgery.

We report on two pre-adolescent boys with a combination of severe seizure disorders and severe-moderate autism who underwent brain surgery for their epilepsy at the ages of 9 and 10 years, respectively. Both boys became seizure-free and initially improved dramatically with regard to autism symptoms. One of the boys continued to improve, but the other had a relapse to his pre-operative state in conjunction with his pubertal growth spurt. Several years after surgery, one of the boys remained much improved with respect to his autism. The other subject showed some improvement with respect to self-injury and aggression, and had slightly lower scores on screens for autism symptoms than in the year preceding epilepsy surgery. The histopathological examination of the brain tissue that was removed at surgery suggested a diagnosis of tuberous sclerosis in both cases.

Autistic Disorder↗
PubMed1996

Autism spectrum disorders in children with physical or mental disability or both. I: Clinical and epidemiological aspects.

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.

Adolescent↗
PubMed1996

Autism spectrum disorders in children with physical or mental disability or both. II: Screening aspects.

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.

Adolescent↗
PubMed1996

ADHD, DAMP and other neurodevelopmental/psychiatric disorders in 6-year-old children: epidemiology and co-morbidity.

A total population of 589 6-year-old children were screened for neurodevelopmental/neuropsychiatric disorders by questionnaires to parents and preschool teachers, and by examination of motor abilities at the Child Health Center. Fifty screen-positive and fifty screen-negative children were assigned for complete neuropsychiatric assessment comprising a detailed history, psychiatric and neurodevelopmental assessment, neuropsychological examination and speech/language evaluation. Comprehensive diagnoses were made on the basis of all the available information. In the total population, 63 children (10.7%) with disorders were identified, 10 of whom had a diagnosis established before the study. The prevalence rates for deficits in attention, motor control and perception (DAMP) were 5.3 to 6.9%, for attention deficit hyperactivity disorder (ADHD) they were 2.4 to 4.0% and for mental retardation, 2.5%. Co-morbidity was established for ADHD on the one hand and DAMP, mental retardation and Tourette syndrome on the other. The findings suggest the need for a school entrant screening examination for the types of problems examined in this study.

Attention Deficit Disorder with Hyperactivity↗
PubMed1996

Autism and medical disorders: a review of the literature.

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.

Adolescent↗
PubMed1996

Language and pragmatic functions in school-age children on the autism spectrum.

This study examined group differences in language and pragmatic functions across sex-, age- and IQ-matched samples of Asperger syndrome (N = 22), high-functioning autism (N = 11), deficits in attention, motor control and perception (DAMP) (N = 11), and speech and language disorder (SLD) (N = 11) groups. The purpose was to explore possible differentiating features in the fields of vocabulary, comprehension and pragmatics and, in addition, to determine whether Asperger syndrome could be reliably separated from high-functioning autism on these variables. The findings suggest that Asperger syndrome may be associated with higher full-scale and verbal IQ than high-functioning autism; Asperger syndrome may not be associated with better pragmatic skills (as defined in this context) than high-functioning autism; language comprehension may not clearly separate Asperger syndrome and high-functioning autism once the effects of very low IQ are partialled out; both DAMP and SLD can be distinctly separated from Asperger syndrome and autism.

Adolescent↗
PubMed1995

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization.

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.

Abnormalities, Multiple↗
PubMed1995

Increasing reading and communication skills in children with autism through an interactive multimedia computer program.

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.

Adolescent↗
PubMed1995

Autism in immigrants: children born in Sweden to mothers born in Uganda.

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.

Autistic Disorder↗
PubMed1995

Parental exposure to hydrocarbons in Prader-Willi syndrome.

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.

Adolescent↗
PubMed1995

Endogenous opioids and opiate antagonists in autism: brief review of empirical findings and implications for clinicians.

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.

Autistic Disorder↗
PubMed1994

Tuberous sclerosis in Western Sweden. A population study of cases with early childhood onset.

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.

Adolescent↗