PTOTCohortJournal of autism and developmental disorders2024

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.

Rebecca M Pollak, T Lindsey Burrell, Joseph F Cubells and 6 others

PMID 37354284

WHAT IT FOUND

Individuals with 3q29 deletion syndrome showed severe visual-motor integration deficits, averaging 69.3 on a scale where 100 is typical.

Motor coordination was the most impaired area. These difficulties were independent of intellectual disability, ADHD, anxiety, or executive function.

Key findings

01Participants with 3q29 deletion syndrome scored on average 69.3 on the Visual-Motor Integration test, which is two standard deviations below the population mean of 100.

02Motor coordination was the most substantially impaired domain, with participants scoring an average of 61.3, significantly lower than their visual perception scores.

03Visual-motor integration deficits were not associated with executive function, daily living skills, or school performance, suggesting they are a distinct phenotype rather than a secondary effect of these comorbidities.

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

The sample size was small (32 participants), making the analyses exploratory and increasing the risk of false positives due to unadjusted p-values. The sample was overwhelmingly white and non-Hispanic, limiting generalizability to other racial and ethnic groups. The VMI has a floor effect (lowest possible score of 45), meaning the true severity of deficits in the most impaired participants may not be fully captured. The study was cross-sectional, so it cannot determine how these deficits change over time or whether they respond to intervention.

Declared interests

The study was funded by the National Institute of Mental Health. No other conflicts of interest were declared.

The easy way to misread this

Do not assume that visual-motor integration deficits in 3q29 deletion syndrome are caused by low intelligence or executive function problems. The study found that these deficits persisted even when accounting for cognitive ability and were not correlated with executive function, suggesting they are a distinct motor-sensory impairment.

Read it on PubMed →