Motor difficulties in 16p11.2 copy number variation.
16p11.2 deletion brings gross-motor trouble; duplication brings fine-motor trouble—plan goals for the weak channel.
01Research in Context
What this study did
Jutla et al. (2024) compared motor skills in people who carry a 16p11.2 deletion versus a duplication. They used standard motor tests to score both big-muscle moves like jumping and small-muscle moves like threading beads.
The team wanted to see if the two genetic types show opposite motor profiles.
What they found
Deletion carriers had weaker gross-motor scores but slightly better fine-motor scores. Duplication carriers showed the flip pattern: better gross moves, weaker fine moves.
The gap was big enough that the same child could look clumsy on the playground yet okay at table-top tasks, or the reverse.
How this fits with other research
Al-Jawahiri et al. (2019) saw the same deletion group show jumpy brain waves, hinting that neural noise might drive the gross-motor mess. The new motor data make that EEG finding easier to interpret.
Osório et al. (2025) found that idiopathic autistic toddlers walk with uneven steps. Amandeep’s gene-first study says the unevenness can have different roots: 16p11.2 deletion hits gross timing, duplication hits fine control.
Deserno et al. (2017) reported lasting gait asymmetry in Developmental Coordination Disorder. The 2024 paper adds a genetic clue—some asymmetry may trace back to 16p11.2 dosage—so check genetics when gait looks lopsided.
Why it matters
If you test a child with 16p11.2 deletion, expect big-muscle goals like bike riding to lag first. For duplication carriers, watch pencil grip and button work. Tailor goals and gear to the weak channel instead of assuming global motor delay.
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Join Free →Open the last genetic report—if it says 16p11.2 deletion, add a gross-motor objective; if duplication, add a fine-motor one.
02At a glance
03Original abstract
The rare genetic variants 16p11.2 duplication and 16p11.2 deletion have opposing effects on brain structure and function, yet are associated with broadly similar clinical phenotypes that include autism, intellectual impairment, psychiatric illness, and motor difficulties. In recent years, studies have identified subtle distinctions between the phenotypic effects of 16p11.2 duplication and 16p11.2 deletion with respect to patterns of autism, intellectual impairment, and psychiatric illness. However, although divergent phenotypic findings in some motor domains have been reported, no study has yet made a comprehensive comparison of motor difficulties between 16p11.2 deletion and 16p11.2 duplication carriers to elucidate points of convergence and divergence. We sought to make such a comparison in a group of 133 16p11.2 deletion carriers, 122 duplication carriers, and 388 familial controls, hypothesizing that motor impairment would overall be greater in deletion than duplication carriers. In a series of regression models, we found that 16p11.2 deletion status tended to predict greater impairment along indices of gross motor function, but less impairment along indices of fine motor function. These findings point to a potential pattern of performance difficulties that could be investigated in future studies. Elucidating motor differences between 16p11.2 duplication and 16p11.2 deletion carriers may help in understanding the complex effect of 16p11.2 copy number variation and other rare genetic causes of autism.
Autism research : official journal of the International Society for Autism Research, 2024 · doi:10.1002/aur.3132