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Tuberous sclerosis complex in autism

Xin Guo1, Wen-Jun Tu, Xiao-Dong Shi

  • 1Department of Clinical laboratory, The First Affiliated Hospital of Harbin Medical University, Harbin, China.

Iranian Journal of Pediatrics
|February 13, 2013
PubMed

Insights

Tuberous sclerosis complex (TSC) affects 1.17% of children with autistic disorder. This neurocutaneous disorder is linked to developmental delays and intellectual disability in affected children.

Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Pediatrics

Background:

  • Autistic disorder is a complex neurodevelopmental condition.
  • Tuberous sclerosis complex (TSC) is a genetic disorder with neurological manifestations.
  • The co-occurrence and prevalence of TSC in individuals with autistic disorder require further investigation.

Purpose of the Study:

  • To determine the prevalence rate of tuberous sclerosis complex (TSC) among children diagnosed with autistic disorder.
  • To investigate potential associations between autistic disorder and the development of TSC.

Main Methods:

  • A cohort of 429 children diagnosed with autistic disorder and pervasive developmental disorders was followed from 2005 to 2009.
  • Children were routinely screened for neurocutaneous markers of TSC, such as depigmented spots.
  • Individuals with infantile spasms or epilepsy underwent regular monitoring for TSC clinical features.

Main Results:

  • Five children in the cohort were diagnosed with tuberous sclerosis complex (TSC), indicating a prevalence of 1.17%.
  • All children with co-occurring TSC and autistic disorder exhibited moderate to severe mental retardation, with IQ or developmental quotients below 70.

Conclusions:

  • The prevalence of tuberous sclerosis complex (TSC) in autistic disorder was found to be 1.17% in the studied region.
  • Autistic disorder may be associated with an increased risk for the development of tuberous sclerosis complex (TSC).
Abstract

Keywords:
AutismAutistic DisorderNeurocutaneous SyndromesTuberous Sclerosis Complex

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