Dataset Information

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study.

ABSTRACT:

Background

Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may be a contributing factor to the ASD phenotype. The purpose of this study was to examine the motor act of reaching-to-grasp in children at high risk (HR; with an older sibling diagnosed with ASD) and low-risk (LR; no family history of ASD) for ASD.

Methods

Children were compared for differences in reaching-to-grasp based on sibling status and diagnostic outcome. Children were enrolled between 6 and 12?months of age and the reach-to-grasp movement was scored at 6, 9, (where available) 12, 15, 18, 24, and 36?months of age using the qualitative Skilled Reaching Rating Scale to determine the presence of any group-, age-, or sex-related differences in the mechanics of the reach-to-grasp movement using a Mixed Models analysis. At 36?months, all children underwent a gold-standard diagnostic assessment, which resulted in three outcome groups: HR children diagnosed with ASD (HR-ASD; n?=?10), HR children not diagnosed with ASD (HR-N; n?=?10), and low-risk children not diagnosed with ASD (LR; n?=?10).

Results

The group of children who were later diagnosed with ASD (HR-ASD group) showed higher (worse) total scores on the reach-to-grasp movement, as well as higher scores on the components of Orient, Lift, and Pronate compared to children in the LR and HR-N groups.

Conclusions

Our results support the growing literature indicating that children who are later diagnosed with ASD show impaired early motor performance. These results highlight the importance of early surveillance of children who are at elevated risk for ASD, and early initiatives should focus on early signs of the phenotype, including both movement and sensory differences (prodromal signs) prior to the emergence of diagnostic characteristics.

SUBMITTER: Sacrey LR

PROVIDER: S-EPMC6307213 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Publications

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study.

Sacrey Lori-Ann R LR Zwaigenbaum Lonnie L Bryson Susan S Brian Jessica J Smith Isabel M IM

Journal of neurodevelopmental disorders 20181227 1

<h4>Background</h4>Although autism spectrum disorder (ASD) is characterized by impairments in social communication and the presence of repetitive behavior and/or restricted interests, there is evidence that motor impairments may be a contributing factor to the ASD phenotype. The purpose of this study was to examine the motor act of reaching-to-grasp in children at high risk (HR; with an older sibling diagnosed with ASD) and low-risk (LR; no family history of ASD) for ASD.<h4>Methods</h4>Children ...[more]

PMID: 30587102

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Project description:Autism spectrum disorder (ASD) is a neurodevelopmental disorder with complex heritability and higher prevalence in males. The neonatal epigenome has the potential to reflect past interactions between genetic and environmental factors during early development and influence future health outcomes. We performed whole-genome bisulfite sequencing of 152 umbilical cord blood samples from the MARBLES and EARLI high-familial risk prospective cohorts to identify an epigenomic signature of ASD at birth. Samples were split into discovery and replication sets and stratified by sex, and their DNA methylation profiles were tested for differentially methylated regions (DMRs) between ASD and typically developing control cord blood samples. DMRs were mapped to genes and assessed for enrichment in gene function, tissue expression, chromosome location, and overlap with prior ASD studies. DMR coordinates were tested for enrichment in chromatin states and transcription factor binding motifs. Results were compared between discovery and replication sets and between males and females. We identified DMRs stratified by sex that discriminated ASD from control cord blood samples in discovery and replication sets. At a region level, 7 DMRs in males and 31 DMRs in females replicated across two independent groups of subjects, while 537 DMR genes in males and 1762 DMR genes in females replicated by gene association. These DMR genes were significantly enriched for brain and embryonic expression, X chromosome location, and identification in prior epigenetic studies of ASD in post-mortem brain. In males and females, autosomal ASD DMRs were significantly enriched for promoter and bivalent chromatin states across most cell types, while sex differences were observed for X-linked ASD DMRs. Lastly, these DMRs identified in cord blood were significantly enriched for binding sites of methyl-sensitive transcription factors relevant to fetal brain development. At birth, prior to the diagnosis of ASD, a distinct DNA methylation signature was detected in cord blood over regulatory regions and genes relevant to early fetal neurodevelopment. Differential cord methylation in ASD supports the developmental and sex-biased etiology of ASD and provides novel insights for early diagnosis and therapy.

Dataset Information

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study.

Background

Methods

Results

Conclusions

Publications

The reach-to-grasp movement in infants later diagnosed with autism spectrum disorder: a high-risk sibling cohort study.

Similar Datasets

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