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

Abstract

The neurodevelopmental outcomes in children with tuberous sclerosis complex (TSC) with epileptic spasms remain underdiagnosed and might be responsible for significant morbidity and mortality burdens, even after spasms abate. The study was a cross-sectional study over 18 months at a tertiary care pediatric hospital, involving 30 children with TSC who had epileptic spasms. They were assessed with Diagnostic and Statistical Manual of Mental Disorders-5 criteria for autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), and intellectual disability (ID), and childhood psychopathology measurement schedule (CPMS) for behavioral disorders. The median age at onset of epileptic spasms was 6.5 (1–12) months, and the age at enrolment was 5 (1–15) years. Of 30 children, 2 (6.7%) had only ADHD, 15 (50%) had only ID/GDD (global developmental delay), 4 (13.3%) had ASD and ID/GDD, 3 (10%) had ADHD and ID/GDD, and 6 (20%) had none. The median intelligence quotient/development quotient (IQ/DQ) score was 60.5 (20–105). CPMS assessment revealed significant behavioral abnormalities in almost half the children. Eight (26.7%) patients were completely seizure-free for at least 2 years, 8 (26.7%) had generalized tonic-clonic seizures, 11 (36.6%) had focal epilepsy, and 3 (10%) had evolved into Lennox-Gastaut syndrome. A high proportion of neurodevelopment disorders, including ASD, ADHD, ID/GDD, and behavioral disorders were seen in this pilot study with a small cohort of children with TSC with epileptic spasms.

Keywords

neurodevelopmental outcomes - tuberous sclerosis complex - epileptic spasms

Authors' Contributions

L.K. and S.M. helped in study design, writing, editing, and drafting. P.M., J.K.S., and N.S. contributed to intellectual content. L.S., S.M., P.K.G., P.M., A.G.S., R.S., I.K.S., R.S., J.K.S., and N.S. were involved in critical revision and final approval.

Note

The authors want to disclose that this research article is a part of larger study on children with neurocutaneous syndromes.

Ethical Statement

We confirm that we have read the journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

^* Both authors contributed equally and shares joint first authorship.

Publikationsverlauf

Eingereicht: 16. Februar 2023

Angenommen: 29. Mai 2023

Artikel online veröffentlicht:
28. Juni 2023

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