Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.
|Title||Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.|
|Publication Type||Journal Article|
|Year of Publication||2020|
|Authors||Wilson RB, Elashoff D, Gouelle A, Smith BA, Wilson AM, Dickinson A, Safari T, Hyde C, Jeste SS|
|Date Published||2020 07|
|Keywords||Autism Spectrum Disorder, Chromosomes, Human, Pair 15, Female, Gait Analysis, Humans, Male, Syndrome, Trisomy|
Motor impairments occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD) and in individuals with ASD without a genetic diagnosis (nonsyndromic ASD). In particular, abnormalities in gait in ASD have been linked to language delay, ASD severity, and likelihood of having a genetic disorder. Quantitative measures of motor function can improve our ability to evaluate motor differences in individuals with syndromic and nonsyndromic ASD with varying levels of intellectual disability and adaptive skills. To evaluate this methodology, we chose to use quantitative gait analysis to study duplication 15q syndrome (dup15q syndrome), a genetic disorder highly penetrant for motor delays, intellectual disability, and ASD. We evaluated quantitative gait variables in individuals with dup15q syndrome (n = 39) and nonsyndromic ASD (n = 21) and compared these data to a reference typically developing cohort. We found a gait pattern of slow pace, poor postural control, and large gait variability in dup15q syndrome. Our findings improve characterization of motor function in dup15q syndrome and nonsyndromic ASD. Quantitative gait analysis can be used as a translational method and can improve our identification of clinical endpoints to be used in treatment trials for these syndromes. Autism Res 2020, 13: 1102-1110. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Motor impairments, particularly abnormalities in walking, occur frequently in genetic syndromes highly penetrant for autism spectrum disorder (syndromic ASD). Here, using quantitative gait analysis, we find that individuals with duplication 15q syndrome have an atypical gait pattern that differentiates them from typically developing and nonsyndromic ASD individuals. Our findings improve motor characterization in dup15q syndrome and nonsyndromic ASD.
|Alternate Journal||Autism Res|
|PubMed Central ID||PMC7498372|
|Grant List||P50 HD103557 / HD / NICHD NIH HHS / United States |
U54 HD087101 / HD / NICHD NIH HHS / United States
UL1 TR001881 / TR / NCATS NIH HHS / United States