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Perinatal adversities in tuberous sclerosis complex: Determinants and neurodevelopmental outcomes

Alexa X D Zhang1, Holan Liang2,3, Fiona S McEwen2,4,5

  • 1Institute of Child Health, University College London, London, UK.

Developmental Medicine and Child Neurology
|April 2, 2022
PubMed

Insights

Perinatal adversity is higher in familial tuberous sclerosis complex (TSC), especially with maternal TSC. However, this adversity did not significantly impact neurodevelopmental outcomes in children with TSC.

Area of Science:

  • Genetics and Neurology
  • Developmental Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder with variable clinical manifestations.
  • Perinatal factors may influence neurodevelopmental outcomes in TSC, but their association requires further investigation.

Purpose of the Study:

  • To investigate the relationship between perinatal adversities and neurodevelopmental outcomes in children with TSC.
  • To compare perinatal adversity levels in children with TSC and their unaffected siblings.

Main Methods:

  • Prospective, longitudinal UK study (Tuberous Sclerosis 2000) involving 125 children with TSC.
  • Retrospective collection of perinatal histories using the Obstetric Enquiry Schedule and Gillberg Optimality Scale.
  • Neurodevelopmental outcomes assessed included intellectual ability, autism spectrum disorder, and attention-deficit/hyperactivity disorder.

Main Results:

  • Children with familial TSC experienced significantly greater perinatal adversity compared to unaffected siblings.
  • Maternal TSC was associated with higher levels of perinatal adversity, unlike paternal TSC.
  • No significant association was found between perinatal adversities and neurodevelopmental outcomes after controlling for confounders.

Conclusions:

  • Maternal TSC is a marker for increased perinatal risk.
  • Increased vigilance is recommended for pregnancies complicated by maternal or fetal TSC.
  • Further research is needed to understand the mechanisms behind increased perinatal adversity in TSC.
Abstract

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