Autism spectrum disorders in children with a history of infantile spasms: a population-based study
Evald Saemundsen1, Petur Ludvigsson, Vilhjalmur Rafnsson
1Division of Autism and Communication Disorders, State Diagnostic and Counseling Center, Kopavogur, Iceland. evald@greining.is
Insights
Autism spectrum disorder (ASD) affects 35.3% of children with infantile spasms, a rate significantly higher than in the general population. Early diagnosis and intervention are crucial for these children.
Area of Science:
- Pediatrics
- Child Neurology
- Developmental Psychology
Background:
- Infantile spasms are a severe form of epilepsy in infants.
- Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting communication and behavior.
- Comorbidity between infantile spasms and ASD is a growing area of research.
Purpose of the Study:
- To determine the prevalence of autism spectrum disorder in children diagnosed with infantile spasms.
- To describe the characteristics of children with both conditions.
- To compare ASD prevalence in this cohort to the general population.
Main Methods:
- Retrospective review of pediatric records in Iceland.
- Screening using the Social Communication Questionnaire.
- Diagnostic confirmation with Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule or Childhood Autism Rating Scale.
- Cognitive and adaptive behavior assessments.
Main Results:
- 17 children (10 boys, 7 girls) participated; mean age 11 years 6 months.
- 35.3% (6/17) were diagnosed with ASD.
- Five ASD cases had symptomatic infantile spasms; four had profound intellectual disability (IQ/DQ<20).
- Prevalence estimates exceeded general population rates.
Conclusions:
- Children with infantile spasms have a significantly higher prevalence of autism spectrum disorder.
- Symptomatic infantile spasms and intellectual disability are associated with ASD in this cohort.
- Further research is needed to understand the underlying mechanisms and optimize management.
Abstract:
The objective of this article is to describe autistic spectrum disorders in children diagnosed with infantile spasms in the first year of life. The source of data was the records of all 3 pediatric departments in Iceland. Twenty children born between 1981 and 1998 who had infantile spasms were invited to participate. When appropriate, the parents of these children were asked to complete the Social Communication Questionnaire. Children scoring 10 points or higher on the questionnaire were selected for further examination using the Autism Diagnostic Interview- Revised and either the Autism Diagnostic Observation Schedule or the Childhood Autism Rating Scale. All participants were given appropriate cognitive tests or measures of adaptive behavior. The parents of 17 children (10 boys, 7 girls) agreed to participate in the study. Age at assessment ranged from 5 to 19 years with a mean age of 11 years and 6 months. Fourteen children had at least one neurodevelopmental disorder. Six (6/17), or 35.3%, were diagnosed with autism spectrum disorder (3 boys, 3 girls), five of these had a history of symptomatic infantile spasms, and four were profoundly mentally retarded (IQ/DQ<20). If the diagnosis of autism spectrum disorder was restricted to children with a developmental age of 24 months or more (3 cases), the prevalence was 17.6%. The estimates found in this study exceed the estimated prevalence of autism spectrum disorder in the general population.

