Torben Isager | PubMed Health

PubMed2005

Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.

Autistic Disorder↗

PubMed2002

[Suicidal behavior in children--a descriptive study].

INTRODUCTION: Psychiatric illness and suicide attempts are important risk factors for suicide in young people. To what extent suicidal behaviour in childhood predicts suicidal behaviour and suicide later in life is not known, and studies concerning suicidal behaviour and psychopathology in children are limited. The objective of the study was to describe suicidal behaviour in children referred to child psychiatric assessment concerning the frequency and characteristics of the suicidal behaviour and the psychiatric diagnoses of the children. MATERIAL AND METHODS: Children under the age of 15 from the County of Copenhagen referred to child psychiatric ward because of suicidal behaviour. The period studied was January 1st 1998 to December 31st 2000. Data regarding the children were collected from a clinical database and medical records. Children seen at other wards by child psychiatric consultants have not been included in the descriptive part of the study. RESULTS: The incidence of referred children corresponds to a rate of suicidal behaviour of 63.0 per 100,000. A total of 126 children were referred. 62 were patients in a child psychiatric ward. Among these, 97% were diagnosed as having psychiatric problems. Children with suicidal risk made out 6% of all referred children. The ratio of boys to girls was 53:73. Most of the girls were aged 13-14 and the boys 8-12. Seven boys suffered from psychoses and pervasive developmental disorders, the rest of the boys from attention deficit and hyperactivity disorders and mixed disorders of conduct and emotions. The oldest girls were suffering from personality disorders. Poisoning was common among the girls and more violent self-destructive acts characterized the suicidal behaviour of the boys. DISCUSSION: Suicidal behaviour was associated with psychopathology in most children referred. Serious psychiatric disturbances as psychotic disorders were found in boys as young as seven years of age, and personality disorders were most common in the girls. Sex differences in suicidal behaviour known from studies of adolescents and adult people seem to be manifested early in childhood. PERSPECTIVES: Prospective studies are needed to clarify the association of psychopathology and suicidal behaviour in childhood and later suicidal behaviour and suicide.

Adolescent↗

PubMed2002

Body mass index in male and female children with infantile autism.

Morphometry, the measurement of forms, is an ancient practice. Recently, evidence has grown to support the notion that aberrant neurodevelopment may play a role in the pathophysiology of autism. Is the body, like the brain, affected by abnormal development in these patients? The aim of this study was to evaluate body mass index (BMI) of children with infantile autism, by comparing the BMI of 117 children with infantile autism with the corresponding BMI percentiles in an age- and sex-matched reference population. The BMI distribution of the male, but not female, children with infantile autism was significantly lower than that of the age-matched reference population. There was no evidence that BMI was associated with intelligence or socioeconomic status among children with infantile autism.

Autistic Disorder↗