Early Development of Infants with Turner Syndrome
Rebecca Edmondson Pretzel1,2, Rebecca C Knickmeyer1,3, Margaret DeRamus2
1Department of Psychiatry, School of Medicine, University of North Carolina-Chapel Hill, Chapel Hill, NC.
Insights
Infants with Turner syndrome (TS) show generally typical early development, but with increased risks for language and motor skill delays. Further research is needed to understand potential long-term impacts on fine-motor and visual abilities.
Area of Science:
- Pediatric Neurodevelopment
- Genetics and Endocrinology
Background:
- Turner syndrome (TS) affects females and is associated with various health issues.
- Early neurodevelopmental assessment is crucial for understanding the TS phenotype.
Purpose of the Study:
- To evaluate early cognitive, temperament, and adaptive functioning in infants and toddlers with TS.
- To identify potential developmental risks and trajectories in this population.
Main Methods:
- Mullen Scales of Early Learning, Carey Toddler Temperament Scales, and Vineland Adaptive Behavior Scales-Second Edition were used.
- 31 girls with TS were compared to neurotypical female and male controls.
- Exploratory analysis examined developmental trajectories from 12 to 24 months.
Main Results:
- Infants with TS generally performed within average ranges for adaptive behavior, temperament, and cognition.
- Increased risk for language delays and significant risk for motor skill delays were observed.
- Exploratory findings suggested slower progression in fine-motor and visual reception skills between 12 and 24 months.
Conclusions:
- Infants and toddlers with TS have a largely positive neurodevelopmental profile.
- An emerging gap in fine-motor and visual perceptual abilities warrants further investigation.
- It remains unclear if these differences are normal variability or early indicators of later TS characteristics.
Objective:
To examine the early cognitive, temperament, and adaptive functioning of infants and toddlers with Turner syndrome (TS).
Methods:
Cognitive abilities were measured using the Mullen Scales of Early Learning at 1 year of age for 31 girls with TS and compared with neurotypical female (N = 53) and male (N = 54) control groups. Temperament (Carey Toddler Temperament Scales) and adaptive functioning (Vineland Adaptive Behavior Scales-Second Edition) were measured at 1 year of age and compared with normative data. An exploratory analysis of cognitive/developmental trajectories was also conducted comparing age 12-month to 24-month time points for 22 TS subjects.
Results:
Infants with TS performed largely within the average range for adaptive behavior, temperament, and early cognitive development with some increased risk for delays in language and significant increased risk for delays in motor skills (p < 0.001). Although exploratory, there was some suggestion of slower rates of progression in fine-motor and visual reception skills from 12 to 24 months of age.
Conclusions:
Infants and toddlers with TS exhibit a relatively positive neurodevelopmental profile overall, with some indication of an increasing gap in function in fine-motor and visual perceptual abilities as compared to neurotypical peers. It is unclear whether these apparent differences represent normal variability in this very young population or, perhaps, are early precursors of later phenotypic characteristics of TS in the school-age and young adult years.
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