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Abstract: Twin and family studies have established that there is a strong genetic basis for autism spectrum disorders. To facilitate the identification of susceptibility genes and to study pathways from gene-brain to cognition a more refined endophenotype-based approach may be useful. The purpose of the present study was to examine the neurocognitive endophenotype of autism, in families with multiple incidence autism. Eighty-six members of 18 families containing at least two individuals with autism were neuropsychological assessed. Children with autism, showed weak central coherence, but this “trait” could not be found in their parents nor in non-affected siblings. All family members, including the sibpairs with autism, showed deficits within executive functions, involving planning ability, but normal set-shifting. The sibpairs with autism – but not their other family members – showed significant correlations within two visuo-spatial tasks. Deficits in executive functions (specifically planning ability) appear to characterize the broader endophenotype of autism. Our findings do not confirm the hypotheses of weak central coherence or deficits in theory of mind as part of the broader endophenotype of autism. Deficits in visual scanning may be a feature of the manifest phenotype of autism. [ABSTRACT FROM AUTHOR]

Presents a controlled study of intermediate term outcome of representative cases with adolescent-onset anorexia nervosa. Lack of information about the outcome of anorexia nervosa; Use of three different outcome classification devices; Abnormalities in mental state of anorexic; Comparison of sexual behavior.

Presents an abstract of the study `Regional Cerebral Blood Flow in Weight-Restored Anorexia Nervosa: A Preliminary Study,' by Maria Rastam, et al, which appeared in the 2001 issue of `Developmental Medicine Child Neurology.'

Abstract: The prevention of aggressive behaviours is a core priority for psychiatric clinical work, but the association between the diagnostic concepts used in psychiatry and aggression remains largely unknown. Outpatients referred for psychiatric evaluations of childhood-onset neuropsychiatric disorders (n =178) and perpetrators of violent crimes referred to pre-trial forensic psychiatric investigations (n =92) had comprehensive, instrument-based, psychiatric assessments, including the Life History of Aggression (LHA) scales. Total and subscale LHA scores were compared to the categorical and dimensional diagnoses of childhood and adult DSM-IV axis I and II mental disorders, general intelligence (IQ), Global Assessment of Functioning (GAF), and personality traits according to the Temperament and Character Inventory (TCI). Overall, the two groups had similar LHA scores, but the offender group scored higher on the Antisocial subscale. Higher total LHA scores were independently associated with the hyperactivity facet of attention-deficit/hyperactivity disorder (AD/HD), childhood conduct disorder, substance-related disorders, and low scores on the Cooperativeness character dimension according to the TCI. IQ and GAF-scores were negatively correlated with the LHA subscale Self-directed aggression. Autistic traits were inversely correlated with aggression among outpatients, while the opposite pattern was noted in the forensic group. The findings call for assessments of aggression-related behaviours in all psychiatric settings. [Copyright &y& Elsevier]

Abstract: The purpose of the present study was to assess which types of neuropsychological deficits appear to be most commonly associated with autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) in adults. The effect of the combination of ASD with ADHD (ASD/ADHD) was also studied. One hundred and sixty-one adult individuals (≥18 years of age) were included in the study. None had full scale IQ less than 71. The neuropsychological investigations included measures of intellectual ability, learning and memory, attention/executive function and theory of mind. The three diagnostic groups showed reduced performance in most cognitive domains. However, within these domains differentiating distinct features could be seen. The dysfunctions of the ASD/ADHD group cannot be seen as a summary of the dysfunctions found in the ASD and ADHD groups. The ADHD seemed to have the most severe neuropsychological impairments of the three groups. No domain-specific deficit typical of any of the diagnostic groups was found. [ABSTRACT FROM AUTHOR]

Background: Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD). Prader-Willi and Angelman syndromes, caused by 15q11-q13 deletions or abnormal methylation of imprinted genes, are also associated with ASD. However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD. Methods: A total of 522 patients belonging to 430 families were screened for deletions, duplications, and methylation abnormalities involving 15q11-q13 with multiplex ligation-dependent probe amplification (MLPA). Results: We identified four patients with 15q11-q13 abnormalities: a supernumerary chromosome 15, a paternal interstitial duplication, and two subjects with Angelman syndrome, one with a maternal deletion and the other with a paternal uniparental disomy. Conclusions: Our results show that abnormalities of the 15q11-q13 region are a significant cause of ASD, accounting for approximately 1% of cases. Maternal interstitial 15q11-q13 duplications, previously reported to be present in 1% of patients with ASD, were not detected in our sample. Although paternal duplications of chromosome 15 remain phenotypically silent in the majority of patients, they can give rise to developmental delay and ASD in some subjects, suggesting that paternally expressed genes in this region can contribute to ASD, albeit with reduced penetrance compared with maternal duplications. These findings indicate that patients with ASD should be routinely screened for 15q genomic imbalances and methylation abnormalities and that MLPA is a reliable, rapid, and cost-effective method to perform this screening. [Copyright &y& Elsevier]