Clinical phenotype of ASD-associated DYRK1A haploinsufficiency.
Rachel K Earl, Tychele N Turner, Heather C Mefford and 4 others
PMID 29034068WHAT IT FOUND
DYRK1A disruptions were associated with microcephaly, speech delay, intellectual impairment, motor and feeding problems, vision abnormalities, and ASD features.
This pattern can guide assessment of speech, motor, feeding, vision, and adaptive needs.
Key findings
01Among 61 DYRK1A cases, language delay was reported in 61/61, intellectual disability or global developmental delay in 60/61, motor difficulties in 52/53, and microcephaly in 58/61.
02Compared with idiopathic ASD samples, DYRK1A cases had significantly higher rates of core features, including microcephaly (58/61 vs 31/1958) and speech delay (61/61 vs 1173/1981).
03In the 10 DYRK1A cases assessed quantitatively, full-scale IQ averaged 45.30 versus 81.20 in age- and gender-matched idiopathic cases, while autism severity scores were not significantly different (6.50 versus 7.70).
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
Many DYRK1A cases came from published reports, and the detail of their medical and psychiatric history varied widely. When a feature was absent from a published report, it was treated as missing, so it is unclear whether it was ruled out or never assessed. Only 10 DYRK1A cases underwent the full quantitative assessment battery, making those comparisons small. The idiopathic ASD comparison group may later be reclassified as genetic as knowledge improves, so the comparison is not fixed. The study did not test any treatment, so it cannot guide which therapy helps.
Declared interests
The paper states that the National Institute of Mental Health funded the work. The supplied text does not include author conflict-of-interest declarations.
The easy way to misread this
Do not read this as evidence that a DYRK1A diagnosis tells you which therapy will work. It reports phenotype associations, not tested treatments, and the quantitative comparisons used only 10 newly assessed cases. Autism severity was not significantly different from idiopathic ASD.