Growth, Feeding and Nutrition in Rett Syndrome: Retrospective Audit of Twenty Years' Experience From an Australian Multidisciplinary Management Clinic.

Aim: This study reviewed the nutritional status, feeding skills, safety, and management of patients with Rett syndrome during childhood and adolescence.

Method: Retrospective chart review of 103 females with classical Rett syndrome, aged ≤ 18 years, attending a Rett syndrome Multidisciplinary Management clinic in a tertiary hospital from 2000 to 2019.

Results: Over multiple clinic visits the cohort was significantly (p < 0.0001) shorter and of lower weight (p < 0.0001) on standard CDC growth charts but not on Rett syndrome specific growth charts. Body mass index Z score was not significantly different on either chart but at first visit both mean and median were <0 (range -5.39 to +3.44) (p = 0.002) on standard charts. Nutritional issues included inadequate energy, fibre, calcium and iron intake. Participants tolerated food textures ranging from puree to regular diet, and fluids ranging from unmodified to modified. Compensatory strategies for drinking, chewing and swallowing difficulties were frequent. Six percent had a documented episode of aspiration pneumonia. Twenty-four percent had gastrostomy placement with 64% of these continuing oral intake or tastes at last visit.

Conclusions: Growth and weight gain in this cohort of females with Rett syndrome supports the pattern observed in other Rett syndrome cohorts. Given the risk of inadequate nutrition, and that optimal nutritional status is undefined in Rett syndrome, there is a need for individualised ongoing clinical assessment of nutritional status and feeding, with a multidisciplinary approach. Oropharyngeal dysphagia and compensatory feeding strategies were common, with feeding safety requiring close monitoring. The burden of assisted feeding was high.