"Treatment for Anxiety and Future Treatments in Rett Syndrome"

Abstract

Introduction: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene that mainly affects females and few males. The prevalence of RS is estimated around 1/15,000 of newborn females. The progressive appearance of the signs and symptoms of RTT has been classified in four stages. The evolution of the clinical symptomatology and severity is individual depending on the age of onset and type of mutation. Anxiety-like behavior is frequent at all ages and is a significant parental concern in RTT. Anxiety leads to more irritability, stereotypes, repetitive rocking and great discomfort for the RTT patients. There is no curative treatment nor one specific therapy for anxiety. Alterations of hypothalamic pituitary adrenal (HPA) axis function seem to have a very important role in anxiety. Our objective is to look through all pharmacotherapy, supplementary diets existing up to-day that have been investigated or used. We review all the trials published, drugs that can be useful, reducing anxiety and added our own experience. Gene therapy can be a curative treatment and 2 trials will start very soon. Our aim is to help clinicians and caregivers to understand and give more quality of life to patients with this rare disease.