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Growth failure and outcome in Rett syndrome: specific growth references

Daniel Charles Tarquinio1, Kathleen J Motil, Wei Hou

  • 1Miami Children's Hospital, Miami, FL, USA. danieltarq@aol.com

Neurology
|October 5, 2012
PubMed

Insights

Growth charts for Rett syndrome (RTT) reveal significant growth failure in affected children compared to the general population. Specific MECP2 mutations and disease severity correlate with poorer growth outcomes in RTT patients.

Area of Science:

  • Pediatrics
  • Genetics
  • Clinical Research

Background:

  • Rett syndrome (RTT) is characterized by significant growth failure.
  • Developing RTT-specific growth references is crucial for clinical management and research.
  • Understanding growth patterns across different RTT genotypes and phenotypes is essential.

Purpose of the Study:

  • To create RTT-specific growth charts for height, weight, head circumference, and BMI.
  • To compare growth trajectories of children with RTT against unaffected children.
  • To analyze growth variations based on RTT genotypes and phenotypes.

Main Methods:

  • Utilized a cohort from the RTT Rare Diseases Clinical Research Network observational study.
  • Collected cross-sectional and longitudinal growth data and clinical information.
  • Generated reference curves using a semiparametric model and compared them to normative values; analyzed genotype/phenotype subgroups with ANOVA and regression.

Main Results:

  • Created growth charts from 9,749 observations of 816 female participants with classic and atypical RTT.
  • Classic RTT exhibited growth failure starting early in infancy (head circumference at 1 month, weight at 6 months, length at 17 months).
  • Absence of pubertal growth spurts and association of poor growth with worse development, higher disease severity, and specific MECP2 mutations were noted.

Conclusions:

  • RTT-specific growth references facilitate early disease screening and treatment monitoring.
  • Growth failure is less common in RTT patients with better development, lower morbidity, and specific late-truncation MECP2 mutations.
Abstract

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