Care Issues in Patients with Rett Syndrome: A Parental Perspective

Background: The purpose of this study is to better understand the way caregivers of patients with Rett syndrome perceive the quality of the health care services they receive and identify its main shortcomings. Methods: A survey was distributed to all caregivers who are part of AIRETT (the Italian Association of Relatives of Patients with RS). The survey gathered information on the management of relatives of patients with Rett syndrome. Results: The data refers to 52 patients, all females, with a median age of 15 years at the time of the survey. Concerning RS specificity, our data confirm the high complexity of this chronic, multifaceted condition, mainly characterized by the presence of epilepsy, apnea, severe scoliosis, and gastrointestinal symptoms. The specialists more frequently involved in the care of patients were general practitioners or family pediatricians (98%) and neurologists (92%), and more rarely physiatrists (71%). Only 15% of patients were followed by a pulmonologist, despite the fact that respiratory problems were frequent (apneas were present in 81% of patients, and 2% had a tracheostomy). Although 63.5% of patients presented with gastrointestinal symptoms and 2% had a gastrostomy, only 33% were followed by a gastroenterologist. Moreover, although orthopedic issues were present in 78.8% of patients, including severe scoliosis in 22% of them, only 25% were followed by an orthopedist. Furthermore, despite the fact that RS patients are fragile, about one quarter of them were not vaccinated. As far as organizational issues are concerned, several specialized centers are located in various regions throughout the country. As a consequence, the high mobility rate from one center to another resulted in non-homogeneous assistance. Conclusions: The study shows that caregivers of RS patients take over most obligations and burdens by increasing their perceived level of stress. For the majority of patients, the most frequent complications were not followed by the reference subspecialist, with the only exception of epilepsy. Moreover, improving vaccination strategies for these patients is necessary.