Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome.

ABSTRACT:

Objective

We conducted a nationwide survey to determine the prevalence of common gastrointestinal and nutritional disorders in Rett syndrome (RTT) based on parental reporting and related the occurrence of these problems to age and methyl-CpG-binding protein 2 (MECP2) gene status.

Methods

We designed a questionnaire that probed symptoms, diagnoses, diagnostic tests, and treatment interventions related to gastrointestinal and nutritional problems in RTT. The International Rett Syndrome Foundation distributed the questionnaire to 1666 family-based members and forwarded their responses for our review. We interrogated the Rare Disease Clinical Research Network database to supplement findings related to medications used to treat gastrointestinal problems in RTT.

Results

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SUBMITTER: Motil KJ 

PROVIDER: S-EPMC3393805 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature