Dataset Information

Examination of tetrahydrobiopterin pathway genes in autism.

ABSTRACT: Autism is a complex disorder with a high degree of heritability and significant phenotypic and genotypic heterogeneity. Although candidate gene studies and genome-wide screens have failed to identify major causal loci associated with autism, numerous studies have proposed association with several variations in genes in the dopaminergic and serotonergic pathways. Because tetrahydrobiopterin (BH4) is the essential cofactor in the synthesis of these two neurotransmitters, we genotyped 25 SNPs in nine genes of the BH4 pathway in a total of 403 families. Significant nominal association was detected in the gene for 6-pyruvoyl-tetrahydropterin synthase, PTS (chromosome 11), with P = 0.009; this result was not restricted to an affected male-only subset. Multilocus interaction was detected in the BH4 pathway alone, but not across the serotonin, dopamine and BH4 pathways.

SUBMITTER: Schnetz-Boutaud NC

PROVIDER: S-EPMC2784255 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature

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Examination of tetrahydrobiopterin pathway genes in autism.

Schnetz-Boutaud N C NC Anderson B M BM Brown K D KD Wright H H HH Abramson R K RK Cuccaro M L ML Gilbert J R JR Pericak-Vance M A MA Haines J L JL

Genes, brain, and behavior 20090714 8

Autism is a complex disorder with a high degree of heritability and significant phenotypic and genotypic heterogeneity. Although candidate gene studies and genome-wide screens have failed to identify major causal loci associated with autism, numerous studies have proposed association with several variations in genes in the dopaminergic and serotonergic pathways. Because tetrahydrobiopterin (BH4) is the essential cofactor in the synthesis of these two neurotransmitters, we genotyped 25 SNPs in ni ...[more]

PMID: 19674121

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Project description:The Autism Impact Measure (AIM) was designed specifically for treatment-outcome assessment in children with ASD, focusing on treatment-relevant aspects of symptom presentation and efficient detection of short-term improvement. The AIM demonstrated strong reliability and validity in initial psychometric studies. The current study evaluated the AIM's sensitivity to change across well-established treatments. The sample included 471 children with ASD (ages 2-14) participating in one of six treatments. The AIM was administered at baseline and 6-week intervals and a battery of domain-specific concurrent measures was also administered. A longitudinal repeated measures design examined the degree to which: (a) AIM domain scores changed over time in response to treatment and (b) change in AIM domains was associated with change in measures of similar constructs. Results across growth curve models indicated that AIM domains are sensitive to change in symptoms across treatment. Across all models, symptoms decreased over time, with some deceleration in rate of improvement. For all AIM domains except Repetitive Behavior, symptoms improved as a function of treatment group. Correlations of change between AIM and other measures varied across domains (from 0.01-0.43 across measures). This was the first large-scale study to systematically evaluate sensitivity to change in a measure of core ASD symptoms. The results provide support for the AIM's ability to detect short-term improvement across symptom domains and indicate that AIM domains are sensitive to change overall and as a function of different treatment conditions. The brief repeated assessment window also highlights the AIM's utility for detecting improvements across short-term treatments. Autism Res 2020, 13: 1867-1879. © 2020 International Society for Autism Research and Wiley Periodicals LLC LAY SUMMARY: Good measures are important for assessing outcomes in children with autism. However, there are few tools for tracking short-term changes in autism symptoms. This study tested a new measure, the Autism Impact Measure (AIM), in a large group of children with autism. The results showed that the AIM appears to be a valid and accurate tool for measuring autism symptoms. The AIM may be a helpful tool for researchers and clinicians interested in tracking short-term improvements in autism symptoms.

Dataset Information

Examination of tetrahydrobiopterin pathway genes in autism.

Publications

Examination of tetrahydrobiopterin pathway genes in autism.

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