Sensory processing in 16p11.2 deletion and 16p11.2 duplication.
Harriet Smith, Chloe Lane, Reem Al-Jawahiri and 1 others
PMID 36053814WHAT IT FOUND
Children with 16p11.2 deletion or duplication often had sensory differences similar to autistic children, especially body position and not noticing sensory input.
Scores varied widely, so assess each child's sensory profile rather than assume one pattern.
Key findings
01Both 16p11.2 deletion and duplication groups showed clear sensory behavior differences, greater than neurotypical comparison data and similar to autistic comparison data.
02The most common sensory pattern difference was not noticing sensory input, and body position was the most common sensory system difference.
03Greater sensory behavior differences were associated with higher autistic traits in both groups and with anxiety in the deletion group.
STILL TO COME
How it was doneWhat they foundWhat it means for OTs
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What it does not show
All sensory data came from parent or caregiver questionnaires, so they describe observed behavior and can be biased rather than showing a direct sensory assessment. Some children did not complete all measures. One deletion child and three duplication children did not complete the Child Sensory Profile 2, and four deletion children and eight duplication children did not complete the Vineland. The deletion group had more boys than girls, with 71% males, which may have influenced sensory results. Sample sizes were small for these rare conditions, and autism subgroup analyses were smaller still. The study compared scores with published neurotypical and autistic datasets rather than recruiting control children alongside the study groups. The study did not measure cognitive ability, although a measure of mental age may have been informative. Sensory differences varied greatly within each genetic group, from scores like typically developing children to profound differences. The analyses show associations, not cause. They did not test whether autistic traits, anxiety, or adaptive skills caused sensory differences.
Declared interests
The Simons Searchlight registry, a major recruitment source, is funded by the Simons Foundation Autism Research Initiative. The publication types list research support, non-U.S. Government. No author conflict of interest declaration is included in the supplied text.
The easy way to misread this
Do not conclude that a sensory intervention will help or that every child has the same sensory profile. The study measured sensory differences with parent report and did not test treatment.