Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.
Anjali Sadhwani, Anne Wheeler, Angela Gwaltney and 7 others
PMID 33517526WHAT IT FOUND
Expressive communication was a weakness in children with Angelman syndrome regardless of genetic subtype.
Deletion subtypes had lower receptive communication and motor scores than other genetic subtypes. Bayley-III did not credit gestures, signs or AAC.
Key findings
01Expressive communication was a clear weakness relative to all other developmental domains in all participants regardless of molecular etiology.
02At age 6, the UBE3A pathogenic variant subtype had the highest cognitive age-equivalent score (27.1 months) and a cognitive growth rate of 2.2 months/year.
03Class I and class II deletion subtypes had significantly lower gross motor scores than other molecular subtypes in both age-equivalent and growth score equivalents.
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 smaller at older ages, so the trajectories near age 13 are less certain. The Bayley-III is normed for children up to 42.5 months, so it cannot fully capture skills expected in older or more advanced children. Because the Bayley-III was used outside its age norm, starting points were not standardized across sites, which may have affected scores. Bayley-III expressive communication scores only credit vocalizations or words and do not credit gestures, signs or AAC, so communication may be underestimated. Seizure frequency, medication use and seizure control varied and were not included in the models, so slower development may partly reflect seizures or medication. Mosaicism was not consistently tested, which could have affected the developmental profile.
Declared interests
One author, AW, reported consulting with Ionis Pharmaceuticals. All other authors reported no conflicts of interest. The supplied text does not state a funding source.
The easy way to misread this
Do not read low Bayley-III expressive communication scores as proof that a child with Angelman syndrome cannot communicate. The test scores only vocalizations or words heard and does not credit gestures, signs or AAC. Real communication may be higher.