Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome.
Rebecca M Pollak, Jordan E Pincus, T Lindsey Burrell and 7 others
PMID 36566217WHAT IT FOUND
People with 3q29 deletion and autism had similar overall social and repetitive behavior scores to non-syndromic autism, but people without autism had more social disability than typical controls.
Social disability can be present without an autism diagnosis in this syndrome.
Key findings
01ADOS-2 domain scores did not differ significantly between 3q29del participants with ASD and non-syndromic ASD participants, but 3q29del participants with ASD scored worse on several reciprocal social interaction items.
02ADOS-2 scores showed more social affect impairment in 3q29del participants without ASD than in typically developing comparators, and they scored worse on several communication and social interaction items.
03ADI-R scores showed less social communication impairment in 3q29del participants with ASD than in non-syndromic ASD participants, with a significant difference in the nonverbal communication sub-domain.
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
Only 31 individuals with 3q29del were included, so the findings may not apply to all people with this deletion. The typically developing comparators were taken from a database, and some may have had other developmental concerns that did not receive a diagnosis. ADI-R comparisons could not include typically developing participants because too few had ADI-R data. The comparison groups had higher IQ than the 3q29del groups, and IQ was not matched. The authors could not assess race or ethnicity effects because the sample was small and not diverse. No intervention was tested, so the study cannot show that social skills treatment improves outcomes.
Declared interests
NIH extramural research support is listed. No conflicts-of-interest declaration or author disclosure statement appears in the supplied text.
The easy way to misread this
Do not conclude that a person with 3q29 deletion needs social support only if they receive an autism diagnosis. The ADOS-2 showed higher social affect scores in participants without autism than in typically developing comparators. Higher scores mean more impairment.