Quantitative Gait Analysis in Duplication 15q Syndrome and Nonsyndromic ASD.
Gait lab numbers separate dup15q from regular autism and give you an easy progress meter.
01Research in Context
What this study did
The team compared how kids walk. They filmed three groups: children with dup15q syndrome, children with regular autism, and typically developing peers. Special software measured speed, step length, sway, and wobble.
What they found
Dup15q kids walked slower and swayed more. Their steps were short and uneven. Regular autism kids looked better, but still differed from typical peers. The gait lab told the groups apart at a glance.
How this fits with other research
Hopkins et al. (2011) first showed jerky, stiff walking in autism. Sievers et al. (2020) now say dup15q is even clumsier, so the motor gap has levels.
Gong et al. (2020) also found flat, uneven gait in preschoolers with autism. Their social scores rose with gait trouble, matching the new data.
Petkova et al. (2022) proved the same gait-biomarker idea works in Angelman mice. Together the papers say: 15q problems hit the legs first, making gait a cheap, early yardstick.
Why it matters
You can track motor skills without a blood test. Run a quick hallway walk or phone video. If speed, step length, or sway stall, the child may need PT or a genetics referral. Use the numbers to show parents clear progress after balance games, orthotics, or treadmill sessions.
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02At a glance
03Original abstract
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.
Autism research : official journal of the International Society for Autism Research, 2020 · doi:10.1186/s11689-018-9257-6