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Related Experiment Video

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Measuring Endoreduplication by Flow Cytometry of Isolated Tuber Protoplasts
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Tuberous Sclerosis Complex Genotypes and Developmental Phenotype.

Laura S Farach1, Deborah A Pearson2, John P Woodhouse3

  • 1Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas.

Pediatric Neurology
|April 22, 2019
PubMed
Summary
This summary is machine-generated.

Children with tuberous sclerosis complex (TSC) and a TSC2 pathogenic variant show significantly worse early development. This genetic variant is linked to high risk for developmental delays by 24 months, independent of seizures.

Keywords:
CognitionDevelopmental delayGenotypeGenotype-phenotype correlationMullen scales of early learning (MSEL)PhenotypeTuberous sclerosis complex (TSC)

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Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder associated with intellectual disability.
  • Pathogenic variants in TSC1 and TSC2 genes cause TSC, with TSC2 variants potentially increasing risk.
  • The specific impact of TSC2 variants on early developmental domains remains understudied.

Purpose of the Study:

  • To investigate and characterize differences in early intellectual development between genotypes in children with TSC.
  • To determine the effect of TSC2 pathogenic variants on specific developmental domains in young children.

Main Methods:

  • Utilized data from a multicenter study of 92 participants with TSC.
  • Employed genetic testing and detailed prospective phenotyping, including the Mullen Scales of Early Learning (MSEL).
  • Compared MSEL T-scores at 24 months between children with and without TSC2 pathogenic variants, adjusting for seizures using multivariable linear regression.

Main Results:

  • Children with TSC2 pathogenic variants exhibited significantly worse T-scores across all MSEL domains.
  • Three-fourths of the TSC2 group presented with below-average composite scores, compared to one-fourth in the non-TSC2 group.
  • Lower composite MSEL scores were associated with TSC2 pathogenic variants, even after correcting for seizure activity.

Conclusions:

  • TSC2 pathogenic variants are significantly associated with lower Mullen Scales of Early Learning scores at 24 months in a well-characterized TSC population.
  • The observed association between TSC2 variants and developmental delays is independent of seizures.
  • Infants with TSC2 pathogenic variants face a high risk for significant developmental delays by 24 months of age.