PTOTCohortAutism research : official journal of the International Society for Autism Research2024

Motor difficulties in 16p11.2 copy number variation.

Amandeep Jutla, Loraine Harvey, Jeremy Veenstra-VanderWeele and 1 others

PMID 38660979

WHAT IT FOUND

Deletion carriers showed more reported clumsiness and slower motor speed than duplication carriers, but less tremor and better scores on some direct motor tasks.

Motor difficulty did not predict autism diagnosis.

Key findings

01Compared with duplication carriers, deletion carriers were more likely to have a developmental coordination disorder diagnosis and to be rated as less coordinated.

02Deletion carriers were slower on a motor-speed task but had better scores on some direct motor performance measures than duplication carriers.

03A large share of deletion and duplication carriers had overall motor impairment, but that impairment did not predict an autism diagnosis in either group.

STILL TO COME

How it was doneWhat they foundWhat it means for PTsWhat it means for OTs

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What it does not show

This is an observational comparison of existing data, not a treatment study, so it cannot show that changing motor therapy would improve outcomes. The deletion and duplication groups differed substantially in age, and the age-restricted analysis reduced the duplication group to 71 carriers, so some findings lost statistical significance. Many participants were initially identified probands, and excluding them changed the sample size and made developmental coordination disorder and children's motor battery findings non significant or untestable. Multiple motor outcomes were compared, and some effects appeared only after adjustment or were at the threshold of significance. Noncarrier data were missing for several motor measures, including age of first walking, motor speed, motor performance, and tandem gait. IQ was related to some motor measures, so the effect of genetic status on those measures may be partly linked to cognitive ability.

Declared interests

The supplied text does not include a conflicts-of-interest declaration. The publication types indicate research support from the U.S. National Institutes of Health extramural program and non-U.S. government sources.

The easy way to misread this

Do not conclude that deletion carriers have worse motor function overall. They had more reported coordination difficulty and slower motor speed, but they also had less tremor and better scores on some direct motor tasks than duplication carriers. The study did not test an intervention, so it cannot show that a particular therapy will help.

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