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Biomedical subjects

C Gillberg

Publications and source records attributed to C Gillberg.

At least 145 records · Page 8Linked to original sources

Children with deficits in attention, motor control and perception (DAMP) almost grown up: general health at 16 years.

One hundred and one children (56 with and 45 without deficits in attention, motor control and perception (DAMP)), originally diagnosed at six or seven years of age and belonging to a representative cohort of children from the general population were followed up at 16 and 17 years of age. There was a significant excess of substance abuse, fractures and other accidents in the DAMP group than among controls, in addition to more motor co-ordination problems, clumsiness, and height and weight problems. Mean complex visual reaction time was significantly longer in the DAMP group, accounted for by the number of boys in the group. It appears that 10-year outcome for children who had attention problems and clumsiness during the preschool period is considerably poorer than for those who did not have such problems.

Adolescent↗

A sensitive ELISA for glial fibrillary acidic protein: application in CSF of children.

In the present study we describe a sensitive ELISA for determination of glial fibrillary acidic protein (GFAP). To validate the method combined determinations of GFAP and S-100 protein were performed in cerebrospinal fluid (CSF) of normal children and children with autism. The GFAP ELISA is of sandwich type and uses the biotin-avidin system. Sensitivity was 16 pg/ml. Between-day precision was 0.079 (coeff. of variance). S-100 protein concentrations were measured using a commercially available ELISA kit. Normal CSF from children and young adults were analysed. The CSF levels of GFAP in normal children were low (16-163 pg/ml). Both GFAP and S-100 protein concentrations correlated with age (P < 0.01 and P < 0.05, respectively), but the GFAP increment was more pronounced, probably reflecting the age-dependent expansion of the fibrillary astrocytes in the central nervous system (CNS). GFAP levels in children with infantile autism were higher than those in normal children of the same age range. S-100 protein concentrations were similar in both groups. High levels of GFAP in combination with normal S-100 protein concentrations in CSF indicates reactive astrogliosis in the CNS. In conclusion, the sensitive ELISA described makes it possible to measure low levels of GFAP present in the CSF of children. Combined assays of GFAP and S-100 protein can be used to discriminate between acute and chronic brain disorders in children.

Adolescent↗

Elevated CSF glutamate in Rett syndrome.

The concentration of free amino acids was measured in the cerebrospinal fluid of four patients with Rett syndrome. The reference material were patients with autistic disorder who had CSF aminoacid levels similar to those reported for healthy children. The concentration of glutamate-but of no other amino acid-was markedly elevated in the CSF of the RS patients. The results are discussed in the context of excitotoxicity in neurodegenerative disease.

Adult↗

Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions?

Fifty-nine cases with infantile autism/autistic disorder were subclassified according to associated medical condition (fragile-X, tuberous sclerosis, neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a 'new' syndrome associated with a marker chromosome). It was concluded that, even within a group of cases fitting currently accepted criteria for autism, there is considerable variation in symptom profile depending on the exact type of associated medical condition.

Adolescent↗

Hypothyroidism and autism spectrum disorders.

Five children (three boys and two girls) with autism or autistic-like conditions are described. Three of them had congenital hypothyroidism and two had mothers who had probably been hypothyroid in pregnancy. It is suggested that hypothyroid hormone deficiency in early development might cause central nervous system damage such that autistic symptoms are likely to ensue. An alternative explanation might be autoimmune factors linking hypothyroidism and autism.

Adolescent↗

Goldenhar syndrome and autistic behaviour.

Two girls with concomitant Goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having Goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having Goldenhar syndrome when she was referred for evaluation of autistic symptoms at seven years of age. The type of physical abnormalities encountered in Goldenhar syndrome suggests damage to neural structures in the second or late stages of the first trimester. The two cases described in this report suggest that autistic disorder sometimes can result from neural damage during the second trimester.

Autistic Disorder↗

Siblings and parents of children with autism: a controlled population-based study.

The siblings and parents of 35 children with infantile autism/autistic disorder were compared with those of children with deficits in attention, motor control and perception (DAMP) and of normal children for reported speech and language problems, reading and spelling problems, social deficits and psychiatric disorders. Children with autism tended more often to be the first and only child and there was some support for genetic stoppage in this group. Learning disorders were equally common among siblings and parents of the autism and normal groups, but less common compared with the DAMP group. Asperger syndrome was more common among first-degree relatives of children with autism compared with normal children. There was a tendency for schizo-affective disorder to be more common among mothers of children with autism. The findings are discussed in the context of a genetic model for the development of autism.

Autistic Disorder↗

Can autism be detected at 18 months? The needle, the haystack, and the CHAT.

Autism is currently detected only at about three years of age. This study aimed to establish if detection of autism was possible at 18 months of age. We screened 41 18-month-old toddlers who were at high genetic risk for developing autism, and 50 randomly selected 18-month-olds, using a new instrument, the CHAT, administered by GPs or health visitors. More than 80% of the randomly selected 18-month-old toddlers passed on all items, and none failed on more than one of pretend play, protodeclarative pointing, joint-attention, social interest, and social play. Four children in the high-risk group failed on two or more of these five key types of behaviour. At follow-up at 30 months of age, the 87 children who had passed four or more of these key types of behaviour at 18 months of age had continued to develop normally. The four toddlers who had failed on two or more of these key types of behaviour at 18 months received a diagnosis of autism by 30 months.

Age Factors↗

The treatment of epilepsy in autism.

Autism is associated with epilepsy. One third of the population of people with autism have developed seizures in early adult life. In spite of this well-known association, little is known about the treatment of epilepsy in autism. This paper reviews the sparse literature and reports a systematic case-record study of the treatment of epilepsy in autism. Some practical guidelines for clinicians are provided. Research in the field of epilepsy in autism is highly warranted.

Anticonvulsants↗

The family background in anorexia nervosa: a population-based study.

A group of 51 cases with anorexia nervosa (including a total population of cases from one birth cohort) was compared with a sex-, age- and school-matched group of 51 cases on various measures of family demography and interactions. There was no support for the notion of a "typical anorexia nervosa family." However, there were more major problems in the anorexia group and there was also a higher prevalence of dead first-degree relatives and depression in the mothers.

Adolescent↗

Outcome in autism and autistic-like conditions.

Autism carries a very variable prognosis; there might be a slight increase in mortality in the first 30 years of life. A small, but not negligible, minority of people with autism lead productive, self-supporting adult lives, but about two-thirds will remain dependent on others throughout life. The risk of epilepsy is very high, both in early childhood and adolescence. An important minority deteriorate in adolescence. Outcome in autistic-like conditions is even more variable, ranging from excellent in many cases of so-called Asperger syndrome to gloomy in most cases of so-called disintegrative disorders.

Adolescent↗

Autism associated with marker chromosome.

Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.

Adolescent↗