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Published on: March 10, 2026
Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome
Pamela L Wolters1, Andrea L Gropman, Staci C Martin
1Medical Illness Counseling Center, Chevy Chase, MD, USA. woltersp@mail.nih.gov
Insights
Early neurodevelopmental assessments reveal moderate to severe delays in cognitive, language, and motor skills for children with Smith-Magenis syndrome. Social skills were average, but toddlers showed more significant delays and autistic behaviors than infants.
Area of Science:
- Neurodevelopmental Pediatrics
- Genetics
- Developmental Psychology
Background:
- Limited systematic data exists on early neurodevelopmental functioning in Smith-Magenis syndrome.
- Early identification and intervention are crucial for optimizing outcomes in genetic syndromes.
Purpose of the Study:
- To prospectively assess early neurodevelopmental functioning in infants and toddlers with Smith-Magenis syndrome.
- To identify age-specific developmental trajectories and behavioral characteristics.
Main Methods:
- Prospective multidisciplinary assessments using standardized measures.
- Evaluated 11 children with Smith-Magenis syndrome under 3 years of age.
- Exploratory analyses comparing infant and toddler subgroups.
Main Results:
- The total sample showed moderate to severe delays in cognition, expressive language, and motor skills.
- Socialization skills were average, outperforming daily living, communication, and motor abilities.
- Toddlers (2-3 years) exhibited more significant delays and mild-to-moderate autistic behaviors compared to infants (<1 year).
Conclusions:
- Early neurodevelopmental profiles in Smith-Magenis syndrome vary significantly with age, with toddlers showing greater delays.
- Combining age groups in research may obscure critical developmental and behavioral differences.
- Understanding these early characteristics is vital for timely diagnosis and targeted interventions.
Abstract:
Systematic data regarding early neurodevelopmental functioning in Smith-Magenis syndrome are limited. Eleven children with Smith-Magenis syndrome less than 3 years of age (mean, 19 months; range, 5-34 months) received prospective multidisciplinary assessments using standardized measures. The total sample scored in the moderately to severely delayed range in cognitive functioning, expressive language, and motor skills and exhibited generalized hypotonia, oral-motor abnormalities, and middle ear dysfunction. Socialization skills were average, and significantly higher than daily living, communication, and motor abilities, which were below average. Mean behavior ratings were in the nonautistic range. According to exploratory analyses, the toddler subgroup scored significantly lower than the infant subgroup in cognition, expressive language, and adaptive behavior, suggesting that the toddlers were more delayed than the infants relative to their respective peers. Infants aged approximately 1 year or younger exhibited cognitive, language, and motor skills that ranged from average to delayed, but with age-appropriate social skills and minimal maladaptive behaviors. At ages 2 to 3 years, the toddlers consistently exhibited cognitive, expressive language, adaptive behavior, and motor delays and mildly to moderately autistic behaviors. Combining age groups in studies may mask developmental and behavioral differences. Increased knowledge of these early neurodevelopmental characteristics should facilitate diagnosis and appropriate intervention.
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