Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome.
One in seven children with 22q11.2 deletion meets ASD criteria, so screen early and plan for both social and motor support.
01Research in Context
What this study did
Doctors screened 98 children who had 22q11.2 deletion syndrome. They used the ADI-R interview to see how many also met autism criteria.
This was a case series, so they simply counted positives; no treatment was given.
What they found
Fourteen of the 98 kids passed the ADI-R cutoff for ASD. That is roughly one in seven, a rate far above the general population.
The authors say to expect autism symptoms in this genetic group, so routine screening is warranted.
How this fits with other research
Schneider et al. (2016) later showed that teens with the same deletion struggle with multitasking in real-life tasks. Their social and daily-living problems line up with the high ASD rate E et al. found.
Storch et al. (2012) looked deeper into motor skills. They learned that slow psychomotor speed, not poor visual-motor integration, causes the clumsy scores on timed tasks. This helps explain why some children with 22q11.2DS look autistic on structured tests: they need extra time, not different goals.
Van Aken et al. (2010) added that these kids move fast but cannot adjust mid-reach, so fine-motor goals should allow longer practice windows.
Taken together, the picture is clear: expect both social-communication and speed-based motor issues in this population.
Why it matters
If a client carries 22q11.2 deletion, run an autism screener even if language seems okay. Build extra response time into tasks and teach adaptive routines step-by-step. Targeting speed and executive skills together may prevent later daily-living gaps.
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02At a glance
03Original abstract
In this study, we assessed the presence of autism spectrum disorders (ASD) among children with a confirmed 22q11.2 deletion (n = 98). The children's caregivers completed screening measures of ASD behaviors, and for those whose scores indicated significant levels of these behaviors, a standardized diagnostic interview (Autism Diagnostic Interview-Revised; ADI-R) was administered. Results demonstrated that over 20% of children (n = 22) were exhibiting significant levels of autism spectrum symptoms based on the screening measures. Based upon the ADI-R, 14 children qualified for a diagnosis of an ASD, and for 11 of those children a diagnosis of autism was most appropriate. These findings increase our knowledge of developmental disorders associated with the 22q11.2 deletion and point to avenues for future investigation.
Journal of autism and developmental disorders, 2005 · doi:10.1007/s10803-005-5036-9