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Neuropediatrics 2023; 54(05): 335-338
DOI: 10.1055/s-0043-1770937
Short Communication

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

Authors

  • Lokesh Saini    *

    1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India

  • Swetlana Mukherjee   *

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Pradeep Kumar Gunasekaran 

    1   Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India

  • Prahbhjot Malhi

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Arushi Gahlot Saini 

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Rajni Sharma

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Indar Kumar Sharawat 

    3   Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

  • Renu Suthar

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Jitendra Kumar Sahu

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

  • Naveen Sankhyan

    2   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Funding None.
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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.




Publication History

Received: 16 February 2023

Accepted: 29 May 2023

Article published online:
28 June 2023

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