Early Development of Infants with Turner Syndrome.
Rebecca Edmondson Pretzel, Rebecca C Knickmeyer, Margaret DeRamus and 8 others
PMID 32118693WHAT IT FOUND
Infants with Turner Syndrome generally scored in the average range for cognition and behavior, but a disproportionate number showed risks in language and motor skills.
Gross motor scores were significantly lower than typical peers, and some visual-motor skills appeared to slow between 12 and 24 months.
Key findings
01Infants with Turner Syndrome scored significantly lower than normative data on Receptive Language and Gross Motor, with a disproportionately high number (approx. 2-3x expected) falling at least one standard deviation below the mean on Expressive Language, Receptive Language, and Gross Motor scales.
02When compared to neurotypical controls, the only significant difference was in Gross Motor skills, where infants with Turner Syndrome scored lower than typical males.
03Between 12 and 24 months, the Early Learning Composite score dropped from 100.6 to 94.3, driven by a significant decline in Fine Motor scores and a decrease in Visual Reception scores.
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
Small sample size (31 infants with Turner Syndrome). Volunteer (self-selected) samples may not be representative of the broader population. Control group for Mullen comparisons was restricted to infants with average scores (85-115), potentially limiting variability. Adaptive behavior and temperament measures were not compared to a control group, only to norms. Statistical differences in covariates (gestational age, birth weight, etc.) between groups. Longitudinal data was available for only a subset of the initial sample (22 of 31).
Declared interests
Funding sources are listed as Research Support, N.I.H., Extramural and Research Support, Non-U.S. Gov't. No specific conflicts of interest declaration is present in the provided text.
The easy way to misread this
Do not interpret the average overall cognitive scores as evidence that development is typical. A significant minority of infants fell below the mean in key areas like language and motor skills, and specific deficits in gross motor and fine motor/visual reception domains were identified that require targeted monitoring and intervention.