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Neurodevelopmental outcomes in children with Down syndrome and infantile spasms
Sarah Tapp1, Tovi Anderson1, Jeannie Visootsak1
1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
Insights
Infantile spasms (IS) significantly impact neurodevelopment in children with Down syndrome (DS). Children with DS and IS show lower cognitive, motor, and language scores compared to those with DS alone.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Down syndrome (DS) is the leading genetic cause of intellectual disability.
- Seizures affect 1-13% of individuals with DS, with infantile spasms (IS) occurring in 6-32% of those with seizures.
- Understanding IS impact on neurodevelopment in DS is crucial for early intervention.
Purpose of the Study:
- To compare neurodevelopmental outcomes in children with DS and IS (DS + IS) versus children with DS without seizures (DS - IS).
- To establish the first comparative analysis of neurodevelopmental trajectories between these two groups.
Main Methods:
- Utilized the Bayley Scales of Infant and Toddler Development III for neurodevelopmental assessment.
- Compared 29 subjects: eight in the DS + IS group and 21 in the DS - IS group.
- Analyzed cognitive, motor, and language domains.
Main Results:
- The DS + IS cohort exhibited poorer neurodevelopmental outcomes.
- DS + IS subjects scored approximately 20 points lower across all assessed domains (cognitive, motor, language) compared to DS - IS subjects (P < 0.05).
- Treatment delay did not correlate with developmental score differences.
Conclusions:
- Infantile spasms appear to negatively impact neurodevelopmental outcomes in children with Down syndrome.
- Children with DS + IS require ongoing developmental and educational assessments.
- Additional therapies may be beneficial for children with DS + IS to maximize potential.
Abstract:
Down syndrome (DS) is the most common genetic cause of intellectual disability in the United States. The prevalence of seizure in individuals with DS is 1-13%, and infantile spasm (IS) occurs in 6-32% of those with seizures. Since IS is relatively common in children with DS, it is important to understand the impact IS has on the neurodevelopmental outcomes in order to provide appropriate anticipatory guidance to help maximize the potential of these children. Our study is the first to compare the neurodevelopmental outcomes of children with DS and IS (DS + IS) to children with DS and no history of seizures (DS - IS). Using the Bayley Scales of Infant and Toddler Development III, we assessed the neurodevelopment of 29 subjects (eight DS + IS and 21 DS - IS). Neurodevelopmental outcome was poor in the DS + IS cohort, but the delay in treatment does not appear to contribute to any differences in their developmental scores. However, when compared to children with DS - IS, the DS + IS cohort scored approximately 20 points less in all domains including cognitive, motor, and language (P < 0.05). Our results indicate that IS may impact the neurodevelopmental outcomes of children with DS + IS; thus, it is important to provide ongoing developmental and educational assessments and potentially additional therapies for children with DS + IS.
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