Pubmed du 4/03/09

jeudi 5 mars 2009

1. Briegel W, Schimek M, Kamp-Becker I, Hofmann C, Schwab KO. Autism spectrum disorders in children and adolescents with Moebius sequence. Eur Child Adolesc Psychiatry ;2009 (Mar 3)

Moebius sequence is a rare congenital disorder usually defined as a combination of facial weakness with impairment of ocular abduction. A strong association of Moebius sequence with autism spectrum disorders (ASDs) has been suggested in earlier studies with heterogenous age groups. The primary caregivers of all children and adolescents with Moebius sequence aged 6-17 years known to the German Moebius foundation were anonymously asked to complete two screening measures of ASD [Behavior and Communication Questionnaire (VSK) ; Marburger Asperger’s Syndrome Rating Scale (MBAS)]. For those who reached the cut-off for ASD, well standardized diagnostic instruments (Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, WISC-III, and Kinder-DIPS) should be administered. Minimal diagnostic criteria for Moebius sequence were congenital facial weakness (uni- or bilateral) and impairment of ocular abduction (uni- or bilateral). Familiar cases should be excluded. The primary caregivers of 35/46 children and adolescents (18 males, 17 females, mean age 11.5 years) sent back completed questionnaires, but only 27 subjects met inclusion criteria. According to the primary caregivers, none of these subjects showed mental retardation. Two probands (both males 9 and 16 years old) reached the cut-off of the MBAS whereas the results of the VSK did not indicate ASDs in any of the patients. The 9 year old boy could be examined personally and did not meet diagnostic criteria of ASD. ASDs might be not as frequent as reported in previous studies on patients with Moebius sequence, at least not in patients without mental retardation.

2. Campbell DB, Buie TM, Winter H, Bauman M, Sutcliffe JS, Perrin JM, Levitt P. Distinct Genetic Risk Based on Association of MET in Families With Co-occurring Autism and Gastrointestinal Conditions. Pediatrics ;2009 (Mar) ;123(3):1018-1024.

OBJECTIVE. In addition to the core behavioral symptoms of autism spectrum disorder, many patients present with complex medical conditions including gastrointestinal dysfunction. A functional variant in the promoter of the gene encoding the MET receptor tyrosine kinase is associated with autism spectrum disorder, and MET protein expression is decreased in the temporal cortex of subjects with autism spectrum disorder. MET is a pleiotropic receptor that functions in both brain development and gastrointestinal repair. On the basis of these functions, we hypothesized that association of the autism spectrum disorder-associated MET promoter variant may be enriched in a subset of individuals with co-occurring autism spectrum disorder and gastrointestinal conditions. PATIENTS AND METHODS. Subjects were 918 individuals from 214 Autism Genetics Resource Exchange families with a complete medical history including gastrointestinal condition report. Genotypes at the autism spectrum disorder-associated MET promoter variant rs1858830 were determined. Family-based association test and chi(2) analyses were used to determine the association of MET rs1858830 alleles with autism spectrum disorder and the presence of gastrointestinal conditions. RESULTS. In the entire 214-family sample, the MET rs1858830 C allele was associated with both autism spectrum disorder and gastrointestinal conditions. Stratification by the presence of gastrointestinal conditions revealed that the MET C allele was associated with both autism spectrum disorder and gastrointestinal conditions in 118 families containing at least 1 child with co-occurring autism spectrum disorder and gastrointestinal conditions. In contrast, there was no association of the MET polymorphism with autism spectrum disorder in the 96 families lacking a child with co-occurring autism spectrum disorder and gastrointestinal conditions. chi(2) analyses of MET rs1858830 genotypes indicated over-representation of the C allele in individuals with co-occurring autism spectrum disorder and gastrointestinal conditions compared with non-autism spectrum disorder siblings, parents, and unrelated controls. CONCLUSION. These results suggest that disrupted MET signaling may contribute to increased risk for autism spectrum disorder that includes familial gastrointestinal dysfunction.

3. Golnik A, Ireland M, Borowsky IW. Medical homes for children with autism : a physician survey. Pediatrics ;2009 (Mar) ;123(3):966-971.

BACKGROUND. Primary care physicians can enhance the health and quality of life of children with autism by providing high-quality and comprehensive primary care. OBJECTIVE. To explore physicians’ perspectives on primary care for children with autism. METHODS. National mail and e-mail surveys were sent to a random sample of 2325 general pediatricians and 775 family physicians from April 2007 to October 2007. RESULTS. The response rate was 19%. Physicians reported significantly lower overall self-perceived competency, a greater need for primary care improvement, and a greater desire for education for children with autism compared with both children with other neurodevelopmental conditions and those with chronic/complex medical conditions. The following barriers to providing primary care were endorsed as greater for children with autism : lack of care coordination, reimbursement and physician education, family skeptical of traditional medicine and vaccines, and patients using complementary alternative medicine. Adjusting for key demographic variables, predictors of both higher perceived autism competency and encouraging an empirically supported therapy, applied behavior analysis, included having a greater number of autism patient visits, having a friend or relative with autism, and previous training about autism. CONCLUSIONS. Primary care physicians report a lack of self-perceived competency, a desire for education, and a need for improvement in primary care for children with autism. Physician education is needed to improve primary care for children with autism. Practice parameters and models of care should address physician-reported barriers to care.

4. White SW, Roberson-Nay R. Anxiety, Social Deficits, and Loneliness in Youth with Autism Spectrum Disorders. J Autism Dev Disord ;2009 (Mar 4)

The purpose of this study was to explore relationships among anxiety, loneliness, and degree of social skill deficit in a sample of youth with autism spectrum disorders (ASD). Participants (N = 20) were between 7 and 14 years of age, verbal, and had low average or higher assessed intelligence (average IQ = 92 +/- 14.41). Youth who self-reported elevated levels of anxiety reported greater feelings of social loneliness. Those participants earning above average total anxiety scores reported significantly more loneliness than those with less anxiety (F = 6.60, p < .05). A significant relationship between parent-reported child withdrawal and depression and social disability also was found. Recommendations for assessment of co-occurring psychiatric problems in youth with ASD are offered.


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