Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms

Area of Science:

• Pediatric Neurology
• Neurodevelopmental Disorders
• Genetics

Background:

• Tuberous sclerosis complex (TSC) is a genetic disorder associated with various neurological complications.
• Epileptic spasms in TSC are often linked to significant neurodevelopmental challenges.
• Underdiagnosis of neurodevelopmental outcomes in TSC with spasms contributes to morbidity.

Purpose of the Study:

• To investigate the prevalence of neurodevelopmental disorders in children with TSC and a history of epileptic spasms.
• To assess the spectrum of conditions including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID).
• To evaluate behavioral disorders using the Childhood Psychopathology Measurement Schedule (CPMS).

Main Methods:

• A cross-sectional study conducted over 18 months at a pediatric tertiary care hospital.
• Inclusion of 30 children diagnosed with TSC and a history of epileptic spasms.
• Assessment using DSM-5 criteria for ASD, ADHD, ID/GDD, and CPMS for behavioral disorders.

Main Results:

• A high proportion of children exhibited neurodevelopmental disorders: 50% had ID/GDD, 13.3% had ASD and ID/GDD, 10% had ADHD and ID/GDD, and 6.7% had ADHD only.
• The median IQ/DQ score was 60.5, indicating significant cognitive impairment in many.
• Nearly half of the children showed behavioral abnormalities, and seizure types varied, with some evolving into Lennox-Gastaut syndrome.

Conclusions:

• Children with TSC and epileptic spasms have a high burden of neurodevelopmental disorders, including ASD, ADHD, and ID/GDD.
• These comorbidities significantly impact long-term outcomes, even after spasm resolution.
• This pilot study highlights the need for comprehensive neurodevelopmental screening and management in this population.