Characterizing the autism spectrum phenotype in DYRK1A-related syndrome.
Evangeline C Kurtz-Nelson, Hannah M Rea, Aiva C Petriceks and 6 others
PMID 37497568WHAT IT FOUND
Children with DYRK1A syndrome showed social communication deficits similar to other children with autism and intellectual disability, but parents reported more severe nonverbal issues.
They displayed fewer rigid routine behaviors and more repetitive sensory motor movements than children with idiopathic autism.
Key findings
0185.2% of participants with DYRK1A syndrome received a clinical ASD diagnosis, and their observed autism severity scores were statistically similar to those of children with idiopathic ASD.
02Parents reported significantly more severe deficits in nonverbal communication and social-emotional reciprocity for children with DYRK1A syndrome compared to children with idiopathic ASD.
03Individuals with DYRK1A syndrome showed fewer behaviors classified as insistence on sameness, but more repetitive sensory motor behaviors, such as hand mannerisms, compared to other groups.
STILL TO COME
How it was doneWhat they foundWhat it means for PTsWhat it means for OTsWhat it means for SLPs
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What it does not show
The sample size was small and unevenly distributed across comparison groups. Participants were recruited via genetics-first studies, which may bias the sample toward those with more obvious physical features like microcephaly. The study included mostly young children, so findings may not reflect the phenotype in adults. Not all participants received whole genome or exome sequencing, so other genetic factors may have influenced the results.
Declared interests
One author is a scientific advisory board member for Variant Bio, Inc. All other authors reported no conflicts.
The easy way to misread this
Do not assume that a child with DYRK1A syndrome has the same behavioral profile as a child with idiopathic autism. They show fewer rigid routine behaviors and more repetitive sensory motor movements, which may require different management strategies.