Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.

Autism spectrum disorders (ASD) are highly heritable and are characterized by deficits in social communication and restricted and repetitive behaviors. Twin studies on phenotypic subdomains suggest a differing underlying genetic etiology. Studying genetic variation explaining phenotypic variance will help to identify specific underlying pathomechanisms.

Gaming Disorder and Computer-Mediated Communication in Children and Adolescents with Autism Spectrum Disorder.

This study investigates how children and adolescents with autism spectrum disorder (ASD) make use of computer gaming and computer-mediated communication (CMC) in comparison to their nonautistic peers. Parents filled out a standardized questionnaire on media use, gaming disorder (GD), and CMC. Sixty-two boys with a diagnosis of ASD aged 4 to 17 years (mean = 11.

Fabrication and Testing of a Bi-2223 Test Coil for High Field NMR Magnets.

In 2005 the Committee on Opportunities in High Magnetic Fields (COHMAG) issued a challenge to develop a 30 T high-resolution NMR magnet. In response, the National High Magnetic Field Laboratory (NHMFL) is investigating all three commercially available high-temperature superconductors (HTS) including REBCO, Bi-2212 and most recently, a reinforced Bi-2223 conductor supplied by Sumitomo Electric, designated Type HT-NX. Recent investigations of Type HT-NX conductor at the NHMFL and by others suggest that operation at hoop stress above 400 MPa, and total strain above 0.

Synaptic, transcriptional and chromatin genes disrupted in autism.

The genetic architecture of autism spectrum disorder involves the interplay of common and rare variants and their impact on hundreds of genes. Using exome sequencing, here we show that analysis of rare coding variation in 3,871 autism cases and 9,937 ancestry-matched or parental controls implicates 22 autosomal genes at a false discovery rate (FDR) < 0.05, plus a set of 107 autosomal genes strongly enriched for those likely to affect risk (FDR < 0.

Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach.

Contactin-associated protein-like 2 gene (CNTNAP2), a member of the Neurexin gene superfamily, is one of the best-replicated risk genes for autism spectrum disorders (ASD). ASD are predominately genetically determined neurodevelopmental disorders characterized by impairments of language development, social interaction and communication, as well as stereotyped behavior and interests. Although CNTNAP2 expression levels were proposed to alter ASD risk, no study to date has focused on its 5' promoter.

Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range.

The genetic architecture of Autism Spectrum Disorders (ASD) is complex. Common genetic variation has especially been related to high-functioning ASD. In addition, some studies favoured analysis of strictly diagnosed autism individuals, which resulted in more robust findings than the combined analysis of all spectrum individuals.

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in two German patient sets (N = 192 and N = 254 families, respectively) and report association for rs7170637 (CYFIP1; set 1 and combined sets), rs6923492 (GRM1; combined sets), and rs25925 (CAMK4; combined sets).

[The oral vitamin E tolerance test--an attempt at standardization].

Chronic vitamin E deficiency causes various neurological symptoms such as cerebellar ataxia, hypoesthesia, areflexia, pigmentary retinopathy, nystagmus and muscle weakness. This is commonly caused by malabsorption of vitamin E, which is either a result of malabsorption of fat or occurs as an isolated vitamin E deficiency. The oral vitamin E tolerance test is suitable for the assessment of vitamin E reabsorption and elimination.