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C Gillberg

Publications and source records attributed to C Gillberg.

At least 19 recordsLinked to original sources
PubMed2002

The Youth Self-Report (YSR) and the Depression Self-Rating Scale (DSRS) as measures of depression and suicidality among adolescents.

Two hundred and thirty-seven adolescents from a junior high school in a small community outside Göteborg, Sweden, completed the Youth Self Report (YSR) and the Depression Self Rating Scale (DSRS). Self-reported suicidality and biographical data were also recorded. The school doctor and nurse assessed the adolescents' somatic, psychological and behavioural problems using school health-records. The convergent validity of the YSR total problems scale and syndrome scales were tested against the DSRS. Discriminant validity was assessed by the two measures' ability to predict suicidality and school health problems. The Internalising (r = 0.65**) and Anxious/Depressed (r= 0.61**) syndrome scales of the YSR had the highest correlations with the DSRS. However, all YSR syndrome scales were significantly, though more modestly, correlated with the DSRS. Using stepwise logistic regression analysis, four YSR sub-scales [Social Withdrawal, Anxious/Depressed, Attention problems and Delinquency] predicted mild-severe self-reported depression (DSRS scores 12 and above). The YSR syndrome scales Anxious/Depressed and Delinquency predicted suicide ideation whereas the Self-destructive/Identity problem and Social Withdrawal (low scores) scales predicted Suicide attempts. The YSR Anxious/Depressed sub-scale and the DSRS total score seem to measure a similar dimension. However, the Anxious/Depressed and Selfdestructive/Identity problem scales were superior in predicting suicidality.

Adolescent↗
PubMed2002

Y chromosome haplogroups in autistic subjects.

The male to female ratio in autism is 4:1 in the global autistic population, but increases to 23:1 in autistic subjects without physical or brain abnormalities.(1) Despite this well-recognised gender difference, male predisposition to autistic disorder remains unexplained and the role of sex chromosomes is still debated. Numerical and structural abnormalities of the sex chromosomes are among the most frequently reported chromosomal disorders associated with autism. However, genome scans have failed to detect linkage on the X chromosome(2,3,4) and this approach cannot study the non-recombining region of the Y chromosome. In this study, we searched for a specific Y chromosome effect in autistic subjects. Using informative Y-polymorphic markers, the Y chromosome haplotypes of 111 autistic subjects from France, Sweden and Norway were defined and compared with relevant control populations. No significant difference in Y-haplotype distribution between the affected and control groups was observed. Although this study cannot exclude the presence of a Y susceptibility gene, our results are not suggestive of a Y chromosome effect in autism.

Autistic Disorder↗
PubMed2002

Linkage and association of the glutamate receptor 6 gene with autism.

A genome scan was previously performed and pointed to chromosome 6q21 as a candidate region for autism. This region contains the glutamate receptor 6 (GluR6 or GRIK2) gene, a functional candidate for the syndrome. Glutamate is the principal excitatory neurotransmitter in the brain and is directly involved in cognitive functions such as memory and learning. We used two different approaches, the affected sib-pair (ASP) method and the transmission disequilibrium test (TDT), to investigate the linkage and association between GluR6 and autism. The ASP method, conducted with additional markers on the 51 original families and in eight new sibling pairs, showed a significant excess of allele sharing, generating an elevated multipoint maximum LOD score (ASPEX MLS = 3.28). TDT analysis, performed in the ASP families and in an independent data set of 107 parent-offspring trios, indicated a significant maternal transmission disequilibrium (TDTall P = 0.0004). Furthermore, TDT analysis (with only one affected proband per family) showed significant association between GluR6 and autism (TDT association P = 0.008). In contrast to maternal transmission, paternal transmission of GluR6 alleles was as expected in the absence of linkage, suggesting a maternal effect such as imprinting. Mutation screening was performed in 33 affected individuals, revealing several nucleotide polymorphisms (SNPs), including one amino acid change (M867I) in a highly conserved domain of the intracytoplasmic C-terminal region of the protein. This change is found in 8% of the autistic subjects and in 4% of the control population and seems to be more maternally transmitted than expected to autistic males (P = 0.007). Taken together, these data suggest that GluR6 is in linkage disequilibrium with autism.

Amino Acid Sequence↗
PubMed2002

Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism.

Autism is a complex neurodevelopmental disorder with severe cognitive and communication disabilities, that has a strong genetic predisposition. Reelin, a protein involved in neuronal migration during development, is encoded by a gene located on 7q22, within the candidate region on 7q showing increased allele sharing in previous genome scans. A case/control and family-based association study recently reported a positive association between a trinucleotide repeat polymorphism (GGC) located in the 5' untranslated region (UTR) of the reelin gene and autism. We performed a transmission disequilibrium test (TDT) analysis of the 5'UTR polymorphism in 167 families including 218 affected subjects (117 trios and 50 affected sib pairs) and found no evidence of linkage/association. Our results do not support previous findings and suggest that this GGC polymorphism of the reelin gene is unlikely to be a major susceptibility factor in autism and/or genetic heterogeneity.

5' Untranslated Regions↗
PubMed2002

Serotonin transporter gene polymorphisms and hyperserotonemia in autistic disorder.

Previous studies have provided conflicting evidence regarding the association of the serotonin transporter (5-HTT) gene with autism. Two polymorphisms have been identified in the human 5-HTT gene, a VNTR in intron 2 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants. Positive associations of the 5-HTTLPR polymorphism with autism have been reported by two family-based studies, but one found preferential transmission of the short allele and the other of the long allele. Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus. These conflicting results could be due to heterogeneity of clinical samples with regard to serotonin (5-HT) blood levels, which have been found to be elevated in some autistic subjects. Thus, we examined the association of the 5-HTTLPR and VNTR polymorphisms of the 5-HTT gene with autism, and we investigated the relationship between 5-HTT variants and whole-blood 5-HT. The transmission/disequilibrium test (TDT) revealed no linkage disequilibrium at either loci in a sample of 96 families comprising 43 trios and 53 sib pairs. Furthermore, no significant relationship between 5-HT blood levels and 5-HTT gene polymorphisms was found. Our results suggest that the 5-HTT gene is unlikely to play a major role as a susceptibility factor in autism.

Adolescent↗
PubMed2001

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

Autism is a neuropsychiatric disorder characterized by impairments in social interaction, restricted and stereotypic pattern of interest with onset by 3 years of age. The results of genetic linkage studied for autistic disorder (AD) have suggested a susceptibility locus for the disease on the long arm of chromosome 7. We report a girl with AD and a balanced reciprocal translocation t(5;7)(q14;q32). The mother carries the translocation but do not express the disease. Fluorescent in situ hybridization (FISH) analysis with chromosome 7-specific YAC clones showed that the breakpoint coincides with the candidate region for AD. We identified a PAC clone that spans the translocation breakpoint and the breakpoint was mapped to a 2 kb region. Mutation screening of the genes SSBP and T2R3 located just centromeric to the breakpoint was performed in a set of 29 unrelated autistic sibling pairs who shared at least one chromosome 7 haplotype. We found no sequence variations, which predict amino acid alterations. Two single nucleotide polymorphisms were identified in the T2R3 gene, and associations between allele variants and AD in our population were not found. The methylation pattern of different chromosome 7 regions in the patient's genomic DNA appears normal. Here we report the clinical presentation of the patient with AD and the characterization of the genomic organization across the breakpoint at 7q32. The precise localization of the breakpoint on 7q32 may be relevant for further linkage studies and molecular analysis of AD in this region.

Autistic Disorder↗
PubMed2001

[Child neuropsychiatric perspectives can contribute to understanding of social disadvantage].

At least five per cent of the general population of children suffer from severe neuropsychiatric impairment. Autism spectrum disorders, ADHD/DAMP, Tourette's syndrome, and a variety of cognitive impairment/neurological syndromes with severe behavioral/emotional symptoms are included among the child neuropsychiatric disorders, the majority of which will lead to ongoing social and academic problems in adult life. Substantial numbers of those affected commit crimes in early adult life, and the incidence of the above-mentioned disorders is higher among young criminal offenders. Early diagnosis, educational, psychological, and, occasionally, medical therapies can affect outcome in a positive way. Child neuropsychiatric disorders should therefore be recognized at an early age so that attitudes can be changed from rejection to understanding, and a gloomy psychosocial outcome avoided.

Adolescent↗
PubMed2001

Parametric control of fingertip forces during precision grip lifts in children with DCD (developmental coordination disorder) and DAMP (deficits in attention motor control and perception).

Twenty boys with developmental coordination disorder (DCD), 11 of whom had associated attention deficit disorder (ADD), were compared with an age-matched control group of 12 boys to examine mechanisms that adapt the grip force at the digit-object interface in a precision grip task. An experimental grip object equipped with pressure transducers registered the grip forces (normal to the surface) and the load force (tangential to the surface) generated by the fingertips. The surface of the object was changed to vary the frictional properties. Both study groups exhibited disturbances of the basic coordination of forces in the initial phase of the movement, manifested by longer time latencies and higher force levels than the control group. All subjects were able to adapt the force output in response to the friction at the digit-object interface. Higher grip forces and safety margins were documented for the DCD group in comparison to the controls. Furthermore, there was greater variation in the parametric control of the grip force in the DCD group. The results suggest that the control of the grip force is similar in children with DCD, regardless of whether they have associated ADD or not, but it is impaired in comparison to that of controls.

Attention Deficit Disorder with Hyperactivity↗
PubMed2001

Regional cerebral blood flow in weight-restored anorexia nervosa: a preliminary study.

Twenty-one individuals (19 females, two males) with teenage-onset anorexia nervosa (AN), 19 of whom were weight restored, were assessed using single-photon emission computed tomography (SPECT) 7 years after onset of AN, at a mean age of 22 years. For comparison we recruited a younger group without neuropsychiatric disorder (mean age 9:8 years; five females, four males) who underwent SPECT at follow-up after an operation for coarctation of the aorta or because of lymphatic leukaemia. Ethical considerations precluded the study of regional cerebral blood flow (rCBF) in participants with completely normal development. The group with AN showed marked hypoperfusion of temporal, parietal, occipital, and orbitofrontal lobes compared to the contrast group. rCBF was not correlated to body mass index in any of the groups. Results suggest that, even long after re-feeding has occurred, AN may be associated with moderate to severe cerebral blood flow hypoperfusion in the temporoparietal (or temporoparietooccipital) region and in the orbitofrontal region. A limitation of the study is that the young contrast group in this study could be expected to have a higher global rCBF than the group with AN. However, this should not significantly affect the relative values used in this study.

Adolescent↗
PubMed2001

Autistic spectrum disorders in Möbius sequence: a comprehensive study of 25 individuals.

The prevalence of autistic disorder was analysed in 25 individuals with Möbius sequence, a disorder with brain-stem dysfunction. The sample consisted of 18 males and seven females (20 participants were aged 2 to 22 years, and five were aged 1, 19 and 23 months, and 55 years old). Participants were recruited after a nationwide call and were part of a multidisciplinary study of individuals with Möbius sequence. They were given a meticulous neuropsychiatric examination including standardized autism diagnostic interviews. Ten individuals had an autistic spectrum disorder. Six of these met all diagnostic criteria for autism. In 23 individuals cognitive development could be assessed. Eight of those 23 patients had clear learning disability and six individuals were functioning in the normal but subaverage range. Autistic spectrum disorder and learning disability occurred in more than a third of the examined patients. Considering the hospital-based nature of the sample, these findings may be overestimates. Nevertheless, awareness of this coexistence is important in the diagnosis and habilitation care of children with Möbius sequence. Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage.

Adolescent↗
PubMed2001

Autistic disorders in Down syndrome: background factors and clinical correlates.

A study of a clinic-based sample of 25 individuals (12 females, 13 males; age at diagnosis 14.4 years, SD 7.4 years; age range 4 to 33 years) with Down syndrome (DS) and autism spectrum disorders, demonstrates that autism is by no means rare in DS. Results showed that there was a considerable delay in the diagnosis of autism as compared with children with autism who did not have DS. In 11 participants medical factors were identified that were likely to be of importance in contributing to the development of autism, and in four further participants there were factors of possible significance. Such factors include a history of autism or autism-related disorders in first- or second-degree relatives (n=5), infantile spasms (n=5), early hypothyroidism (n=3), evidence of brain injury after complicated heart surgery (n=2), or a combination of these factors. It is important that autism is recognised, identified, and fully assessed in individuals with DS in order for them to receive appropriate education and support.

Adolescent↗
PubMed2001

A preliminary population-based twin study of self-reported eating disorder.

BACKGROUND: Twin studies have concluded that there is a substantial genetic contribution to the aetiology of eating disorders. The aim of the present study was to estimate the genetic contribution to the aetiology of self-reported eating disorders in a sample of representative twins. METHOD: A population cohort of 34142 young Danish twins was screened for eating disorders by a mailed questionnaire. RESULTS: Concordance rates differed significantly across monozygotic and dizygotic twin pairs for broadly defined self-reported anorexia nervosa and bulimia nervosa. Heritability estimates of 0.48, 0.52 and 0.61 respectively were estimated for narrow and broad definitions of self-reported anorexia nervosa and for self-reported bulimia nervosa. CONCLUSIONS: There is a genetic contribution to the aetiology of self-reported eating disorders in the general population. The relationship between self-reported and clinical eating disorder remains to be examined.

Adult↗
PubMed2001

Screening for autism spectrum disorders in adult psychiatric out-patients: a preliminary report.

OBJECTIVE: To estimate the prevalence of autism spectrum disorders (ASD) among adult psychiatric out-patients; to evaluate the efficacy of a new brief screening questionnaire (ASDASQ). METHOD: 1323 adult psychiatric out-patients were screened by staff. Analysis of psychiatric records of patients (n = 66) scoring high on the ASDASQ yielded 31 patients with a suspected ASD. Twenty-two of these patients were clinically examined. Three psychometric aspects of the questionnaire were studied. RESULTS: Seventeen patients were found by clinical examination to have an ASD. Since two patients scoring low on the ASDASQ were known to have an ASD, at least 19 patients in this population (1.4%) had a definite ASD. Seventeen of the ASD patients had been previously diagnosed with other psychiatric disorders, most frequently schizophrenia (n = 5). Of patients attending a treatment centre for severe psychiatric disabilities (n = 499), 3.2% had an ASD. The ASDASQ showed good reliability across and within raters. Internal consistency was excellent. CONCLUSION: Adult psychiatric patients sometimes have undiagnosed autism spectrum disorders. The ASDASQ can be useful for screening.

Adult↗
PubMed2001

ADHD in Swedish 3- to 7-year-old children.

OBJECTIVE: To study characteristics of attention-deficit/hyperactivity disorder (ADHD) in a representative group of clinically impaired young children in Sweden with the disorder. METHOD: One hundred thirty-one children with ADHD (aged 3-7 years) were examined, and their parents were interviewed. Independent parent questionnaire data (Child Behavior Checklist, ADHD Rating Scale-IV, Conners) were collected. For comparison 131 children without ADHD were matched for age, gender, parents' marital status, child's adoption status, and social class. RESULTS: Children with ADHD had extremely high ADHD symptom levels--on average four to eight times higher than the comparison group. Sociodemographic correlates of ADHD symptoms were more pronounced in parent questionnaire data than in parent interview data, underscoring the importance of diagnostic interview when dealing with clinical issues. Very few of the children with ADHD (6%) appeared "normal" with regard to attention/activity level at clinical examination. CONCLUSIONS: Clinic children with a diagnosis of DSM-IV ADHD have typical and impairing symptoms already before starting school. The variance of ADHD in this age group appears to be accounted for by primary psychosocial factors only to a limited degree. It would seem reasonable to establish supportive and treatment measures for these young children so that the psychosocial and academic problems shown by so many individuals with ADHD later in their development might be reduced.

Attention Deficit Disorder with Hyperactivity↗