Pubmed du 09/04/12

Pubmed du jour

2012-04-09 12:03:50

1. Fisch GS. {{Autism and epistemology III: Child development, behavioral stability, and reliability of measurement}}. {Am J Med Genet A};2012 (Apr 9)

Early diagnosis and treatment of autism increases the likelihood that symptoms associated with the disorder can be alleviated. However, the behaviors of both typically and atypically developing young infants and toddlers are quite variable and often change as these children age. Studies have shown that this is the case for same-aged children who are diagnosed with autistic disorder (AD) or other Pervasive Developmental Disabilities (PDDs). Therefore, an early accurate assessment of AD or PDD may be problematic. Moreover, instruments used to make the diagnosis may not be as reliable as desired. Statistics employed to evaluate diagnostic accuracy and behavioral stability of instruments’ or clinicians’ assessments suggest that their diagnoses have been only moderately successful. In addition, the statistics themselves have limitations that would suggest that the measures of diagnostic accuracy and behavioral stability implemented may not be as effective as they would seem. A resolution to these problems is proposed. (c) 2012 Wiley Periodicals, Inc.

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2. Krakowiak P, Walker CK, Bremer AA, Baker AS, Ozonoff S, Hansen RL, Hertz-Picciotto I. {{Maternal Metabolic Conditions and Risk for Autism and Other Neurodevelopmental Disorders}}. {Pediatrics};2012 (Apr 9)

OBJECTIVE:We examined whether metabolic conditions (MCs) during pregnancy (diabetes, hypertension, and obesity) are associated with autism spectrum disorder (ASD), developmental delays (DD), or impairments in specific domains of development in the offspring.METHODS:Children aged 2 to 5 years (517 ASD, 172 DD, and 315 controls) were enrolled in the CHARGE (Childhood Autism Risks from Genetics and the Environment) study, a population-based, case-control investigation between January 2003 and June 2010. Eligible children were born in California, had parents who spoke English or Spanish, and were living with a biological parent in selected regions of California. Children’s diagnoses were confirmed by using standardized assessments. Information regarding maternal conditions was ascertained from medical records or structured interview with the mother.RESULTS:All MCs were more prevalent among case mothers compared with controls. Collectively, these conditions were associated with a higher likelihood of ASD and DD relative to controls (odds ratio: 1.61 [95% confidence interval: 1.10-2.37; odds ratio: 2.35 [95% confidence interval: 1.43-3.88], respectively). Among ASD cases, children of women with diabetes had Mullen Scales of Early Learning (MSEL) expressive language scores 0.4 SD lower than children of mothers without MCs (P < .01). Among children without ASD, those exposed to any MC scored lower on all MSEL and Vineland Adaptive Behavior Scales (VABS) subscales and composites by at least 0.4 SD (P < .01 for each subscale/composite).CONCLUSIONS:Maternal MCs may be broadly associated with neurodevelopmental problems in children. With obesity rising steadily, these results appear to raise serious public health concerns.

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3. Sorensen PL, Basuta K, Mendoza-Morales G, Gane LW, Schneider A, Hagerman R, Tassone F. {{A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male}}. {Am J Med Genet A};2012 (Apr 9)

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