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Biomedical subjects

Christopher Gillberg

Publications and source records attributed to Christopher Gillberg.

At least 19 recordsLinked to original sources
PubMed2003

Learning disability.

Learning disability is common, affecting 1-2.5% of the general population in the Western world, and encompasses many different conditions. It usually leads to major functional impairment and lifelong need for support and interventions, not the least important of which are medical and health-care services. Rapid progress is being made in the understanding of the cause and pathogenesis of many learning disability syndromes, and these advances are likely to improve targeted interventions in the next decade. Many countries have abolished a learning disability specialty for medical professionals, but there is a great need to revive this niche of medical knowledge. We know little about quality of life and effects on families of people with learning disability, and research is needed to address these issues.

Adolescent↗
PubMed2003

Bone density 11 years after anorexia nervosa onset in a controlled study of 39 cases.

OBJECTIVE: To evaluate bone mineral density (BMD) and body composition 11 years after the onset of anorexia nervosa (AN). METHOD: Thirty-nine AN subjects (36 females, 3 males), selected from a population-based sample, and 46 matched controls (COMP; 43 females, 3 males) were examined by using double-energy X-ray absorptiometry (DXA). Only 2 women still had AN. None of the men had AN. RESULTS: The females in the AN and COMP groups did not differ regarding BMD, nor was there a difference across female groups concerning body mass index (BMI). The female AN group had a significantly lower percentage of body fat. BMD among females in the AN group was related to lowest BMI ever. There was an inverse relationship between lumbar BMD and AN duration. DISCUSSION: Low BMD is not overrepresented among weight-restored AN patients at long-term follow-up compared with healthy women. However, the inverse relationship between BMD and AN duration may be indicative of a risk for osteopenia in patients with subchronic and chronic AN.

Adolescent↗
PubMed2003

Outcome of teenage-onset anorexia nervosa in a Swedish community-based sample.

In a prospective long-term outcome study of a representative sample of teenage-onset anorexia nervosa (AN), 51 individuals with AN, recruited after community screening, were contrasted with 51 matched comparison cases at a mean age of 24 years (10 years after AN onset). All 102 cases had been examined at age 16 and 21 years. At 24 years all probands were interviewed regarding mental and physical health, and overall outcome was assessed. Ten-year outcome of teenage-onset AN seemed to be relatively favourable in that half of all cases were free from eating disorder (ED) and other axis I disorder. There were no deaths. However, one in four in the AN group had a persisting ED, 3 of whom still had AN. Lifetime diagnoses of affective disorders and obsessive-compulsive disorder (OCD) were overrepresented in the AN group. Affective disorders coincided with the ED, and were not a problem after recovery from the ED. On the other hand, OCD, OCPD (obsessive-compulsive personality disorder), and/or autism spectrum disorder continued to characterise more than one-third of the AN cases. One in six of the AN group had persistent problems with social interaction and obsessive compulsive behaviours from childhood into early adult years. Half the AN group had a poor overall outcome. These were subjects with either persisting ED or lifelong problems with social interaction and obsessive compulsive behaviour.

Adolescent↗
PubMed2003

Attention-deficit-hyperactivity disorder with and without oppositional defiant disorder in 3- to 7-year-old children.

Attention-deficit-hyperactivity disorder (ADHD) is a common neurodevelopmental disorder with a high degree of associated behavioural problems. In order to study characteristics of ADHD with and without oppositional defiant disorder (ODD) in a representative group of young children with clinical impairment in Sweden, 131 children (101 males, 30 females) with ADHD (mean age 5 years, SD 1 year 5 months; range 3 to 7 years) were clinically examined, and their parents interviewed. Independent questionnaire data (Child Behavior Checklist, ADHD Rating Scale-IV, ODD Rating Scale-IV, Conners Hyperactivity Index) were collected. For comparison 131 children without ADHD were matched for sex, age, marital status, and socioeconomic status (115 males, 16 females; mean age 4 years 10 months, SD 1 year 5 months; range 3 to 7 years). Sixty percent of those with ADHD met full DSM-IV criteria for ODD. Only 10 of the 131 children with ADHD had no symptoms of ODD at all. The rate of children meeting full diagnostic criteria for ODD was similar across all age cohorts. Males were overrepresented in ODD, as were children of divorced parents and of mothers with low socioeconomic status. ADHD combined subtype was a stable independent factor influencing the diagnosis of ODD, regardless of psychosocial factors. Those with ADHD with ODD consistently showed higher rates of ADHD symptoms than did those with ADHD without ODD. The prevalent comorbidity of ADHD with ODD indicates that all children presenting with ADHD or ODD symptoms need to be assessed with a view to exploring both types of problem behaviours. The link between ODD and some psychosocial variables indicates the need to address these, possibly by measures such as parent training and network support.

Attention Deficit Disorder with Hyperactivity↗
PubMed2003

Autism spectrum disorders in children with active epilepsy and learning disability: comorbidity, pre- and perinatal background, and seizure characteristics.

The aim of this study was to examine the comorbidity pattern, seizure characteristics, and aetiology in a representative group of children with a combination of autism spectrum disorder (ASD), active epilepsy, and learning disability. Ninety children (47 males, 43 females; mean age 11 years 2 months, range 8 to 16 years at the time of psychiatric examination) with active epilepsy and learning disability, identified in a population-based study in Göteborg, Sweden, were subdivided into those with and those without ASD and compared with respect to aetiology, additional neuroimpairments, and seizure characteristics. In addition, the cohorts were examined for trends of prevalence over a period of time. Results indicated that established aetiology was much more often present in the prenatal period than in the peri- or postnatal periods in the ASD group. Cerebral palsy and visual impairment were under-represented in the ASD group. Partial seizures tended to be more common and generalized seizures less common in the ASD group compared with the non-ASD group. Seizure onset was later in the ASD group. Many of the significant differences were accounted for by a large group of psychiatrically unclassifiable participants in the non-ASD group. There was no trend towards an increase of affected children over the 12-year period. There was no increase in the prevalence of active epilepsy and learning disability nor in the rate of autism with active epilepsy and learning disability in children born between 1981 and 1986 compared with those born from 1976 to 1980, indicating no statistical association with the general measles-mumps-rubella vaccination introduced in the early 1980s.

Adolescent↗
PubMed2003

A candidate region for Asperger syndrome defined by two 17p breakpoints.

Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from both patients showed that the chromosome 17 breakpoints are located within a 300 kb region at 17p13. The region spans 14 known genes. The expression of these genes was analysed in lymphoblastoid RNA derived from the patients and healthy control individuals. The CHRNE, DKFZP566H073, LOC90048, PFN1, SPAG7, KIAA0909, ZNF232 and KIF1C genes showed similar levels of expression in cell lines with the translocations when compared with cell lines with normal karyotype. No expression was detected for the MINK, GP1BA, SLC25A11, ENO3, FLJ10060 and USP6 genes in any of the cell lines. The close physical relation of the two 17p breakpoints suggest a common genetic aetiology for the phenotype in the patients. Structural and functional analysis of the genes located around the two 17p breakpoints in t(13;17) and t(17;19) patients may reveal candidate sequences for the AS phenotype.

Adolescent↗
PubMed2003

Autism and auditory brain stem responses.

OBJECTIVE: To study a controversy that has been discussed for more than two decades: whether or not children with autism have abnormalities affecting the cochlear nerve or the auditory pathway in the brain stem and, if so, to describe these abnormalities. DESIGN: A group of 153 children and adolescents with autistic disorder were included in an investigation of auditory brain stem responses (ABR). Two thirds of this group, 101 individuals (75 boys, 26 girls), had normal hearing and they were selected for an in-depth ABR study. The results from the study group were compared with those of an age-matched comparison group. RESULTS: The III-V interpeak latency (IPL) was significantly prolonged in both boys and girls with autism, compared with the controls. The latencies of ABR waves I and V were also significantly lengthened in the study groups. The individual test results showed that more than half of this normal-hearing autistic disorder group (58%) had abnormalities of one or more of eight ABR parameters studied. The most common abnormalities were prolongation of wave V (38%), and of I-V IPL (28%). A lengthening of the I-V IPL was also recorded in 27% of 49 children who were difficult to test or who had hearing loss. Abnormal left-right differences of ABR latencies were found in 18% of autism cases with normal hearing. CONCLUSIONS: Possible causes of the reported ABR abnormalities, observed here as well as in other studies, are discussed. Brain stem lesion, occult cochlear dysfunction, and involvement of the cochlear efferent system are probable factors that can explain the ABR findings

Adolescent↗
PubMed2003

Why bother about clumsiness? The implications of having developmental coordination disorder (DCD).

Developmental coordination disorder (DCD) is a common motor problem affecting--even in rather severe form--several percent of school age children. In the past, DCD has usually been called 'clumsy child syndrome' or 'non-cerebral-palsy motor-perception dysfunction'. This disorder is more common in boys than in girls and is very often associated with psychopathology, particularly with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorders/ autistic-type problems. Conversely, children with ADHD and autism spectrum problems, particularly those given a diagnosis of Asperger syndrome, have a very high rate of comorbid DCD. Psychiatrists appear to be unaware of this type of comorbidity in their young patients. Neurologists, on the other hand, usually pay little attention to the striking behavioral and emotional problems shown by so many of their 'clumsy' patients. A need exists for a much clearer focus on DCD-in child psychiatry and in child neurology-both in research and in clinical practice.

Asperger Syndrome↗
PubMed2002

Analysis of ten candidate genes in autism by association and linkage.

We studied the possible involvement of ten candidate genes in autism: proenkephalin, prodynorphin, and proprotein convertase subtilisin/kexin type 2 (opioid metabolism); tyrosine hydroxylase, dopamine receptors D2 and D5, monoamine oxidases A and B (monoaminergic system); brain-derived neurotrophic factor, and neural cell adhesion molecule (involved in neurodevelopment). Thirty-eight families with two affected siblings and one family with two affected half-siblings, recruited by the Paris Autism Research International Sibpair Study (PARIS), were tested using the transmission disequilibrium test and two-point affected sib-pair linkage analysis. We found no evidence for association or linkage with intragenic or linked markers. Our family sample has good power for detecting a linkage disequilibrium of 0.80. Thus, these genes are unlikely to play a major role in the families studied, but further studies in a much larger sample would be needed to highlight weaker genetic effects.

Alleles↗
PubMed2002

A clinical case series of six extremely aggressive youths treated with olanzapine.

Olanzapine is an atypical neuroleptic drug with mood-stabilising properties and few of the side effects commonly associated with conventional neuroleptic treatment. We used olanzapine, 5-20 mg/day, to treat severe aggression in six non-psychotic teenage boys with neuropsychiatric disorders. All but one started to respond within one week. The therapeutic effect in four of the patients clearly outweighed the side effects (weight gain and sedation). The subjects described a markedly increased sense of well being during the olanzapine treatment.

Adolescent↗
PubMed2002

Appraisals of stress in child-rearing in Swedish mothers pre-schoolers with ADHD. A questionnaire study.

Dutch self-report questionnaire for measuring parental: i) subjective stress, ii) global appraisal of the child-rearing situation, iii) attribution of child-rearing outcomes, and iv) expectation for help was translated into Swedish and applied to mothers of two groups of 3- to 7-year-olds: one with DSM-IV ADHD (n = 131) and one without DSM-IV ADHD (n = 131). The suggested factor structure of the original Dutch report was tested with confirmatory analysis on data from the mothers of children with ADHD [131]. There was no perfect fit to the data, but close enough to judge the factors as applicable to this sample. Factor reliability testing was performed. Results indicated good psychometric properties. Highly significant differences on all the measures in the four different sections (i) through (iv) were found between the ADHD group and the comparison group. The questionnaire is suggested to be useful in clinical work and research projects on problematic child-rearing situations.

Attention Deficit Disorder with Hyperactivity↗
PubMed2002

Association between a polymorphism of the 5-HT2C receptor and weight loss in teenage girls.

Receptors of the 5-HT2C subtype are assumed to be involved in the influence of serotonin on food intake. A polymorphism in the coding region of the gene for this receptor, resulting in a cysteine to serine substitution, has been reported. Fifty-seven somatically healthy teenage girls displaying weight loss and 91 normal-weight girls of the same age, all recruited by means of a population-based screening study, were compared with respect to this polymorphism. Subjects in the weight loss group displayed a higher frequency of the serine allele than those in the comparison group (23.7% vs. 7.7%, p =.0001). Seventy-two percent of the weight loss girls fulfilled the diagnostic criteria of anorexia nervosa, whereas 28% did not; when these two groups were separately analyzed, both differed significantly from controls with respect to serine allele frequency. The results support the notion that the studied gene may be involved in the regulation of food intake in young women.

Adolescent↗
PubMed2002

Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects.

Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ <70. In 13 individuals, attention-deficit-hyperactivity disorder (ADHD), mainly inattentive or combined type in most cases, and/or autism spectrum problems were diagnosed. Many participants, even among those who had an IQ within the normal range and had neither ADHD nor autistic spectrum problems, showed a characteristic and pronounced behavioural profile with low mental energy, initiation difficulties, deficits in sustained attention, and social interaction (often augmented by limited facial expression and communication and speech problems).

Abnormalities, Multiple↗
PubMed2002

Head circumference in autism, Asperger syndrome, and ADHD: a comparative study.

This study was undertaken to test the hypothesis that children with autistic spectrum disorders often have macrocephalus, and that those without comorbid learning disability are most frequently affected. Fifty consecutive children with Asperger syndrome (45 males, five females; mean age 9 years, range 1 year 6 months to 16 years) without indications of underlying medical disorders were matched for birth year and sex with 50 children (45 males, five females; mean age 6 years 4 months, range 1 year 4 months to 13 years 11 months) who met criteria for autistic disorder (a lower-functioning disorder within the autism spectrum) and with 50 children (45 males, five females; mean age 8 years 4 months, range 1 year 6 months to 15 years 5 months) who met criteria for attention-deficit-hyperactivity disorder. Birth and neuropsychiatric follow-up records were examined and data relating to occipitofrontal circumference, weight, and height were detailed. The group with Asperger syndrome included a subset of individuals with macrocephalus recorded both at birth and at follow-up after the first year of life. Another subgroup developed macrocephalus during early childhood. Autistic spectrum disorders include a subgroup with macrocephalus characterized by a relatively high level of functioning and a clinical presentation most often consistent with a diagnosis of Asperger syndrome.

Adolescent↗
PubMed2002

Mobius sequence--a Swedish multidiscipline study.

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.

Abducens Nerve Diseases↗