Neurodevelopmental profile of siblings with Angelman syndrome due to pathogenic UBE3A variants.
A Sadhwani, J M Willen, H Miller and 7 others
PMID 31854050WHAT IT FOUND
Second-born siblings with Angelman syndrome were diagnosed earlier than first-born siblings.
They showed higher expressive language scores in a small subset, but overall developmental functioning was similar across groups.
Key findings
01Second-born participants were diagnosed at a significantly younger age than first-born participants.
02Second-born participants had statistically higher developmental quotients in the expressive language domain than first-born participants.
03No statistically significant differences were found between the four groups regarding the frequency of current therapies received.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The sample size was very small, particularly for the sibling comparison groups, limiting statistical power. The significant finding in expressive language was based on only six sibling pairs, and the difference may be driven by just two pairs who used single words. Gender imbalance among second-born participants (majority female) may have confounded the language results, as females typically develop language earlier. The study was cross-sectional, so it cannot determine if these differences persist or change over time. Different tests were used for different age groups, requiring the calculation of developmental quotients which may not be directly comparable to standard scores.
Declared interests
The study was supported by the National Institutes of Health (Extramural). No other conflicts of interest are declared in the text.
The easy way to misread this
Do not conclude that having an older sibling with Angelman syndrome improves a child's language development. The significant difference in expressive language was based on a small subset of six pairs, with the result potentially skewed by just two pairs or by gender differences. The primary takeaway is earlier diagnosis, not improved function.