[Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention]

Feeding difficulties and digestive disturbances are common in patients with neurological disorders, particularly Rett syndrome. They may compromise weight and growth, often leading to malnutrition. The aim of the present study was to characterize the nutritional and gastrointestinal status of a group of children with Rett syndrome and to evaluate the benefits of clinical intervention.

Based on a previously designed protocol, the authors performed gastrointestinal and nutritional assessment of 25 girls with Rett syndrome with identified MECP2 mutation. Intervention was performed individually and a subsequent evaluation involved 7 patients.

Feeding problems were present in 11 patients (44%), and only one had partial self-feeding ability. Body mass index (BMI) was under the 5th percentile in 40%. Constipation (75%) and gastroesophageal reflux (32%) were the main gastrointestinal problems. Iron deficient anemia was present in 12% and iron deficiency/low ferritin in another 12%. Hypocalcemia occurred in 44%. After therapeutic intervention all the girls re-evaluated showed improvements in BMI, constipation and gastroesophageal reflux symptoms.

Management of patients with Rett syndrome requires a multidisciplinary team that should include Gastroenterologists. Individually tailored feeding strategies are essential to provide adequate nutrition. Early identification of nutritional and gastrointestinal disturbances and their proper management contribute to the improvement in the quality of life of these patients.