Dataset Information

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

ABSTRACT:

Background

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders.

Methods

This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region.

Results

Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p?=?.0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain.

Conclusions

PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.

SUBMITTER: Baker EK

PROVIDER: S-EPMC6091196 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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Publications

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

Baker Emma K EK Godler David E DE Bui Minh M Hickerton Chriselle C Rogers Carolyn C Field Mike M Amor David J DJ Bretherton Lesley L

Journal of neurodevelopmental disorders 20180806 1

<h4>Background</h4>Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders.<h4>Methods</h4>This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants complete ...[more]

PMID: 30081815

Similar Datasets

Project description:Prader-Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13. Some of the primary phenotypes of the two syndromes have been suggested to be opposite to one another, but this hypothesis has yet to be tested comprehensively, and it remains unclear how opposite effects could be produced by changes to different genes in one syndrome compared to the other. We evaluated the evidence for opposite effects on sleep and eating phenotypes in Prader-Willi syndrome and Angelman syndrome, and developed physiological-genetic models that represent hypothesized causes of these differences. Sleep latency shows opposite deviations from controls in Prader-Willi and Angelman syndromes, with shorter latency in Prader-Willi syndrome by meta-analysis and longer latency in Angelman syndrome from previous studies. These differences can be accounted for by the effects of variable gene dosages of UBE3A and MAGEL2, interacting with clock genes, and leading to acceleration (in Prader-Willi syndrome) or deceleration (in Angelman syndrome) of circadian rhythms. Prader-Willi and Angelman syndromes also show evidence of opposite alterations in hyperphagic food selectivity, with more paternally biased subtypes of Angelman syndrome apparently involving increased preference for complementary foods ("baby foods"); hedonic reward from eating may also be increased in Angelman syndrome and decreased in Prader-Willi syndrome. These differences can be explained in part under a model whereby hyperphagia and food selectivity are mediated by the effects of the genes SNORD-116, UBE3A and MAGEL2, with outcomes depending upon the genotypic cause of Angelman syndrome. The diametric variation observed in sleep and eating phenotypes in Prader-Willi and Angelman syndromes is consistent with predictions from the kinship theory of imprinting, reflecting extremes of higher resource demand in Angelman syndrome and lower demand in Prader-Willi syndrome, with a special emphasis on social-attentional demands and attachment associated with bedtime, and feeding demands associated with mother-provided complementary foods compared to offspring-foraged family-type foods.

Dataset Information

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

Background

Methods

Results

Conclusions

Publications

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.

Similar Datasets

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