Pediatric Abstract Update : Gastrointestinal And Nutritional Problems Life In Rett Syndrome.

Gastrointestinal And Nutritional Problems Occur Frequently Throughout Life In Girls And Women With Rett Syndrome.

Motil KJ, et al.

J Pediatr Gastroenterol Nutr. 2012 Feb 10.

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) 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: Parents of 983 RTT females (59%) responded and identified symptoms and diagnoses associated with gastrointestinal dysmotility (92%); chewing and swallowing difficulties (81%); weight deficits or excess (47%); growth deficits (45%); low bone mineral content or fractures (37%); biliary tract disorders (3%). Height, weight, and BMI z-scores decreased significantly with age; height and weight, but not BMI, z-scores were significantly lower in females with MECP2 mutations than those without. Vomiting, nighttime awakening, gastroesophageal reflux, chewing difficulty, and choking with feeding were significantly less likely to occur with increasing age. Short stature, low bone mineral content, fractures, and gastrostomy placement were significantly more likely to occur with increasing age. Chewing difficulty, choking with feeding, and nighttime awakening were significantly less likely to occur, whereas short stature was significantly more likely to occur, in females with MECP2 mutations than those without. Diagnostic evaluations and therapeutic interventions were utilized less frequently than the occurrence of symptoms or diagnoses in the RTT cohort.

CONCLUSION: Gastrointestinal and nutritional problems perceived by parents are prevalent throughout life in girls and women with RTT and may pose a substantial medical burden for their caregivers. Physician awareness of these features of RTT may improve the health and quality of life of individuals affected with this disorder.

Source: Department of Pediatrics, Baylor College of Medicine and the Blue Bird Circle Rett Center, Houston, TX 77030 †Civitan-Sparks Clinics ‡Civitan International Research Center §Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, 35294 ||Greenwood Genetics Center, Greenwood, SC 29646 ¶Data Technology Coordinating Center, University of South Florida, Tampa, FL 33620.


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