Gastrointestinal and Nutritional Problems Occur Frequently Throughout Life in Girls and Women With Rett Syndrome

• DOI: 10.1097/mpg.0b013e31824b6159
• Publication Date: 2012-02-11T07:38:48Z
• Authors: Kathleen J. Motil; Erwin Caeg; Judy O. Barrish; Suzanne Geerts; Jane B. Lane; Alan K. Percy; Fran Annese; Lauren McNair; Steven A. Skinner; Hye‐Seung Lee; Jeffrey L. Neul; Daniel G. Glaze
• Keywords: 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 related occurrence these problems age methyl‐CpG‐binding protein 2 ( MECP2 ) gene status. Methods: designed questionnaire that probed symptoms, diagnoses, diagnostic tests, treatment interventions RTT. The International Syndrome Foundation distributed 1666 family‐based members forwarded their responses for our review. interrogated Rare Disease Clinical Research Network database supplement findings medications used treat Results: Parents 983 female patients with RTT (59%) responded identified symptoms diagnoses associated dysmotility (92%), chewing swallowing difficulties (81%), weight deficits or excess (47%), growth (45%), low bone mineral content fractures (37%), biliary tract (3%). Height‐for‐age, weight‐for‐age, body mass index z scores decreased significantly age; height‐ weight‐, but not index‐for‐age were lower subjects mutations than those without. Vomiting, nighttime awakening, gastroesophageal reflux, difficulty, choking feeding less likely occur increasing age. Short stature, content, fractures, gastrostomy placement more Chewing feeding, awakening occur, whereas short stature was Diagnostic evaluations therapeutic frequently cohort. Conclusions: Gastrointestinal perceived by parents are prevalent throughout life girls women may pose substantial medical burden caregivers. Physician awareness features improve health quality individuals affected this disorder.