Early Development of Infants with Turner Syndrome

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.