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Biomedical subjects

C Gillberg

Publications and source records attributed to C Gillberg.

At least 73 records · Page 4Linked to original sources

Autism: not an extremely rare disorder.

OBJECTIVE: To study autism over time in order to ascertain whether there has been an increase in its prevalence in recent years. METHOD: All English language papers on the prevalence of autism were reviewed. Ten of the studies retrieved were not used in the final analysis because they did not meet full criteria for inclusion in the review. The remaining 20 studies, published between 1966 and 1997, were subdivided into US studies (n=2) and non-US studies (n=18), and the latter group was subdivided into four 8-year periods. RESULTS: The early studies yielded prevalence rates of under 0.5 in 1000 children, whereas the later ones showed a mean rate of about 1 in 1000. There was a marked difference in prevalence rates between those studies that included some children born before 1970 (low rates) and those that included only children born in 1970 and after (high rates). This is probably due to the lower rates obtained by use of criteria strictly based on Kanner's description of his syndrome. The US studies reported atypically low rates. There was a highly significant estimated increase with calendar year in the non-US studies (3.8% per year). CONCLUSION: It is concluded that autism is considerably more common than was previously believed. The possible reasons for the higher reported rates are discussed.

Adolescent↗

Cerebrospinal fluid monoamines in Prader-Willi syndrome.

BACKGROUND: The behavioral phenotype of Prader-Willi syndrome (PWS) suggests hypothalamic dysfunction and altered neurotransmitter regulation. The purpose of this study was to examine whether there was any difference in the concentrations of monoamine metabolites in the cerebrospinal fluid (CSF) in PWS and non-PWS comparison cases. METHODS: The concentration of monoamine metabolites in CSF was determined in 13 children and adolescents with PWS diagnosed on clinical and genetic criteria. The concentrations were compared with those from 56 comparison cases in healthy and other contrast groups. RESULTS: The concentrations of dopamine and particularly serotonin metabolites were increased in the PWS group. The differences were most prominent for 5-hydroxyindoleacetic acid. The increased concentrations were found in all PWS cases independently of age, body mass index, and level of mental retardation. CONCLUSIONS: The findings implicate dysfunction of the serotonergic system and possibly also of the dopamine system in PWS individuals, and might help inform future psychopharmacologic studies.

Adolescent↗

[Two sides of patients with eating disorders. One wants to get better, the other resists].

Anorexia and bulimia nervosa patients often require long-term treatment. The efficacy of different treatment approaches is insufficiently known, and for many years well-defined treatment goals were lacking. However, treatment studies are being published, or are under way. In this paper, the authors attempt to summarize the current state-of-knowledge in the field of eating disorder treatment.

Anorexia Nervosa↗

A 2-4 year follow up of depressive symptoms, suicidal ideation, and suicide attempts among adolescent psychiatric inpatients.

One hundred eleven (58%) of 191 adolescent inpatients previously admitted to the emergency wards at the Child and Adolescent Psychiatric Clinics in the cities of Uppsala and Göteborg participated in a 2-4 year follow-up evaluation. The prevalence, incidence, and stability of depressive symptoms, suicidal ideation, and suicide attempts among the adolescents, and predictors of follow-up functioning were examined. Although a majority of the patients substantially reduced their depressive symptoms over the 2-4 year period, a smaller group (13%), mainly girls (94%), continued reporting high symptom levels at follow-up, and one out of five adolescents had moderate-severe levels of suicidal ideation. The accumulated frequency of suicide attempts among the patients shortly prior to hospitalization and during the follow-up was 59% including two patients who committed suicide. Significant predictors of depressive symptom severity at follow-up were depressive symptom scores and V-diagnoses at inpatient assessment. Previous suicide attempts before hospitalization, high levels of self-reported depressive symptoms and nonintact family status at inpatient assessment predicted suicide attempts during the follow-up period. The high prevalence of attempted and completed suicide in this clinical group underscores the importance of developing effective treatments for suicidal adolescents.

Adolescent↗

Chromosomal disorders and autism.

Many cases of autism appear to be caused by several abnormal genes acting in concert. The literature on chromosomal aberrations in autism is reviewed, with a view to finding potential gene markers for the neuropsychiatric disorder. Most of the chromosomes have been implicated in the genesis of autism. However, aberrations on the long arm of Chromosome 15 and numerical and structural abnormalities of the sex chromosomes have been most frequently reported. These chromosomes appear to hold particular promise in the search for candidate genes.

Autistic Disorder↗

The preserved speech variant: a subgroup of the Rett complex: a clinical report of 30 cases.

Thirty girls and young women, 6 from Sweden and 24 from Italy, are described in this paper. They ranged in age from 5 through 28 years. All but one of the cases met full symptom criteria for DSM-IV autistic disorder. However, they also showed many features of classic Rett syndrome (RS) as outlined by the Rett syndrome Diagnostic Criteria Work Group. All met the required 3 out of 6 main criteria and 47% also met both these and the required 5 out of 11 supportive criteria for RS variants as outlined by Hagberg. The course of the disorder was more benign than in classic RS, but all the girls were severely functionally impaired. There was familial clustering in a subgroup. It is concluded that these 30 cases represent a syndrome, similar and probably related, to classic RS. It is suggested that there is a spectrum of syndromes ranging from severe cases with classical presentation to considerably milder variants. We propose that, at the present state of knowledge, these conditions might be best categorized as subgroups of the "Rett Complex," in which classical RS and the preserved speech variant may be the most frequent.

Adolescent↗

The Swedish version of the Childhood Autism Rating Scale in a clinical setting.

The Childhood Autism Rating Scale (CARS) is an instrument for screening and diagnosis of autism. The present study was performed to assess the interrater reliability of a Swedish version of the CARS when used in a clinical setting. The procedure used mimicked a frequent form of consultation in neuropsychiatry and pediatric neurology. During a restricted time period, both an interview with the parents and observation of the child take place. Often this assessment is an important screening procedure and directs further investigation. CARS was used for rating autistic behavior by two investigators in 25 children. A variant of the weighted kappa statistic (correcting for chance and for degrees of disagreement) showed values between .53 and .75 (indicating fair to excellent agreement). Aspects of validity and reliability are discussed.

Autistic Disorder↗

Long-term psychological outcome of children after surgery for transposition of the great arteries.

To assess the psychological consequences of a single congenital heart defect, we tested intellectual function, self-perception, "body image", child psychiatric symptoms and the family climate in 21 boys and 10 girls, at a mean age of 13.2 y, on average 11.5 y after surgery for transposition of the great arteries. Where applicable, test norms were used for comparison. WISC-R IQ tended to be slightly lower than that of the general population. Self-perception, as reflected on the "I think I am" test, was normal. "Body image" as measured by the "Draw-a-man" test was poor in the boys, but did not show a relationship with any other test tapping mental health. Six children (19%) had clinically significant child psychiatric symptoms, which is slightly more than expected, and were overrepresented in patients with poorer cardiac function. Five of these represented "internalizing" disorders. The patients' families scored higher than expected on the family climate "chaos" subscale, which has been demonstrated to be associated with the development of psychiatric symptoms. Overall, however, the children and their families were regarded as socially and psychologically well-functioning.

Adaptation, Psychological↗

Neuropsychiatric disorders.

Neuropsychiatric disorders of childhood include autism spectrum disorders, disorders comprising attention deficits (attention-deficit-hyperactivity disorder and deficits in attention, motor control and perception), tics (motor or vocal, or both), and obsessions and compulsions (obsessive-compulsive disorder). They affect a small proportion of the child population. They can now reliably be diagnosed, and are valid and clinically meaningful conditions. Effective interventions are available for most of these disorders.

Age of Onset↗

Attention deficits and clumsiness in Swedish 7-year-old children.

A population study of 409 seven-year-old children in a middle-sized Swedish town was performed. All children were examined by the same doctor and evaluated by means of parent interview, motor examinations, and teacher reports on behaviour in the classroom. Follow-up was carried out 8 months later. The rate of severe problems in the fields of attention deficit-hyperactivity disorder (ADHD), developmental coordination disorder (DCD), and deficits in attention, motor control, and perception (DAMP) (the combination of ADHD and DCD) was 6.1%, with boys being affected more frequently than girls. There was considerable overlap between ADHD and DCD, with about half of each diagnostic group also meeting criteria for the other diagnosis. Attention deficits at diagnosis strongly predicted attention deficits at follow-up. If parents had noted attention deficits in the home setting, then teachers almost always independently agreed that there were similar problems in the classroom. However, the reverse did not always apply. Clumsiness also showed striking stability over time. The diagnosis of DAMP, particularly severe DAMP, had a stronger association with classroom dysfunction and with high Conners scores than did diagnoses of ADHD or DCD. It is concluded that DAMP may be a clinically valid diagnostic construct.

Attention Deficit Disorder with Hyperactivity↗

Gangliosides in cerebrospinal fluid in children with autism spectrum disorders.

Gangliosides are sialic acid-containing glycolipids found in all cells, especially abundant in nerve cells and mainly situated on outer-membrane surfaces. The aim of this study was to provide data on the concentration of gangliosides in the CSF of children and adolescents with autism spectrum disorders (ASD) - 66 with autistic disorder, and 19 with other autism spectrum disorders. The comparison group consisted of 29 children and adolescents, whose CSF had been sampled to exclude acute infectious CNS disorder. The concentrations of the gangliosides GM1, GD1a, GD1b, and GT1b were determined using a microimmunoaffinity technique. The ASD group had a significantly higher concentration of ganglioside GM1 compared with the comparison group. The GM1 increase could not be explained as secondary to other clinical factors. Mean ganglioside levels did not differentiate subgroups with autistic disorder and those with a more atypical clinical picture, nor subgroups with known medical disorders and those with idiopathic autism. Altered patterns of gangliosides in the CNS might reflect important correlates of pathogenesis in autism.

Adolescent↗

Children with blindness due to retinopathy of prematurity: a population-based study. Perinatal data, neurological and ophthalmological outcome.

A population-based group of 27 children with total blindness due to retinopathy of prematurity (ROP), born in Sweden from 1980 to 1990, was examined. They constituted all but two of the total of 29 children with total blindness due to ROP known to the national register of visually impaired children when reviewed from 1980 to 1 January 1995. All children had a gestational age of less than 31 weeks and most had had a complicated perinatal period. The retinal disease was discovered late, most often after it had already progressed to bilateral retinal detachment. Repeated vitreoretinal surgery had been performed in most children, but postoperative visual function did not improve. Three-quarters of the group had major neurological impairment (mental retardation, cerebral palsy, or epilepsy) at age 4 to 14 years. There was an impression that extensive ophthalmological efforts delayed neurodevelopmental assessments and examinations as well as adequate habilitation.

Adolescent↗

The long-term course of autistic disorders: update on follow-up studies.

The majority of children with autism show deviance and socially or psychiatrically handicapping conditions throughout life. Only a small proportion of those with classical childhood autism lead independent adult lives. Others, particularly those with 'high-functioning' autism and so-called Asperger syndrome will improve enough to live an independent adult life. The level of mental retardation and other comorbid conditions (such as medical syndromes and other neuropsychiatric disorders, including epilepsy) is important in predicting outcome. An IQ below 50 around school age predicts severe restriction of social and adaptive functioning in adult life. The absence of communicative speech at 5-6 years of age is indicative of a poorer long-term overall outcome. There is a clear co-variation between IQ and level of communication, but probably there is some prognostic factor in language development apart from this. Measures of flexibility and cognitive shifting abilities tend to be good predictors of social outcome in a few studies. There is a continued need for prospective, longitudinal studies of children with autism spectrum disorders, particularly in Asperger syndrome. The role of interventions of various kinds needs to be addressed in such studies.

Activities of Daily Living↗

Attention deficit disorder with developmental coordination disorders.

AIMS: To analyse the contribution of certain social, familial, prenatal, perinatal, and developmental background factors in the pathogenesis of deficits in attention, motor control, and perception (DAMP). METHODS: A population based case-control study was carried out with 113 children aged 6 years, 62 diagnosed with DAMP and 51 controls without DAMP. The children's health and medical records were studied and their history with regard to background factors was taken at an interview with the mother using a standardised schedule. Familial factors, possible non-optimal factors during pregnancy (including smoking), developmental factors (including early language development), and medical and psychosocial data were scored in accordance with the reduced optimality method. RESULTS: Low socioeconomic class was common in the group with DAMP. Familial language disorder and familial motor clumsiness were found at higher rates in the DAMP group. Neuropathogenic risk factors in utero were also more common in the children with DAMP. Maternal smoking during pregnancy appeared to be an important risk factor. Language problems were present in two thirds of the children with DAMP. Sleep problems and gastrointestinal disorders, but not atopy or otitis media, were significantly more common in the DAMP group. CONCLUSIONS: Prenatal familial and neuropathogenic risk factors contribute to the development of DAMP. Primary prevention, such as improved maternal health care and early detection or treatment, or both, of associated language problems appear to be essential.

Attention Deficit Disorder with Hyperactivity↗

Hyperactivity, inattention and motor control problems: prevalence, comorbidity and background factors.

This paper provides a brief review of syndromes associated with activity dysregulation, inattention and motor control problems, usually referred to as attention-deficit/hyperactivity disorder, developmental coordination disorder and deficits in attention, motor control and perception. Several percent of school age children are affected by such problems. Disorders tend to overlap and show significant comorbidities. Familial and brain-damaging factors are involved in the pathogenesis and appear to impinge on specific attentional brain systems. Outcome is variable but restricted if appropriate diagnosis/intervention is not accomplished. Effective interventions are available. Given the high prevalence of these disorders and their relatively poor outcome, such interventions could constitute effective prevention in a general population health perspective.

Attention Deficit Disorder with Hyperactivity↗

The puzzle of autism: an ophthalmologic contribution.

PURPOSE: A previous study of 86 thalidomide-affected subjects with ophthalmic manifestations revealed the unexpected finding of autism in 4 of the 5 severely retarded individuals. The subjects had anomalies associated with an early gestational effect of thalidomide, including facial nerve palsy and incomitant strabismus. Because autism has been observed in a few cases of Möbius sequence (Möbius syndrome), a condition characterized by involvement of the sixth and seventh cranial nerves, the similarity to early thalidomide embryopathy suggested a relation between cranial nerve involvement and autism. The present study was undertaken to further evaluate the association of autism with patients manifesting findings of Möbius syndrome. METHODS: A prospective study of 25 Swedish patients with Möbius sequence was conducted. The patients had a complete multidisciplinary evaluation, including ophthalmologic and psychiatric examinations and standard testing for autism. Findings associated with autism were compared with the ocular and systemic anomalies of the 4 thalidomide-affected subjects. RESULTS: In the Möbius group 6 patients had autism, achieving the criteria for autism according to all the diagnostic manuals that were used. One patient showed autistic-like conditions meeting fewer numbers of the criteria. A few were too young to be meeting evaluated. Incomitant strabismus ranging from primary abduction defects alone to a horizontal gaze paresis pattern was noted in these patients, in addition to characteristic findings of seventh nerve paresis. Aberrant lacrimation was observed in many cases, especially often associated with autism. CONCLUSION: The common group of anomalies noted in both cases of thalidomide embryopathy and Möbius sequence suggests that brain-stem damage probably early in embryogenesis can sometimes be associated with autism.

Abnormalities, Drug-Induced↗

Relation between blindness due to retinopathy of prematurity and autistic spectrum disorders: a population-based study.

Children with blindness due to retinopathy of prematurity (ROP)--who are at greatly increased risk of cerebral damage--have been noted to have a high rate of autistic symptoms, but systematic controlled studies have been lacking. A controlled population-based study was performed; one group was blind due to ROP (N=27) and the other was congenitally blind due to hereditary retinal disease (N=14). Fifteen of the 27 children with ROP had autistic disorder. All these children were mentally retarded and about one-third of them had cerebral palsy. In the comparison group, two of the 14 children had autistic disorder. It is concluded that there is a strong association between ROP and autistic disorder. The association is most probably mediated by brain damage and is largely independent of the blindness per se.

Adolescent↗