Managing Rett Syndrome

Описание: Jana von Hehn, PhD, Chief Scientific Officer of the Rett Syndrome Research Trust, discusses current strategies for managing Rett syndrome.

Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.

Over the course of the patient’s life, patients’ physical disability may range from mild to severe, and several clinical features may be evident. For example, patients often will develop hypotonia, and microcephaly is also a common feature. Beyond the motor, neurological, and behavioral issues already mentioned, patients may also experience any of these abnormalities:

Endocrine and growth abnormalities
Sleep disturbances
Scoliosis and other skeletal issues
Breathing problems
Swallowing issues and gastrointestinal complications

Overall, the clinical status of patients with Rett syndrome tends to stabilize as patients enter young adulthood; for example, the incidence of scoliosis in patients with Rett syndrome generally lessens after the onset of puberty. However, these patients are at higher risk than the general population for osteopenia and contractures, and consensus guidelines recommend surveillance for these musculoskeletal issues.

The following longer-term issues should also be noted: The guidelines also recommend monitoring for potential urinary retention. Motor function deficits may result in the inability or refusal to eat or drink, and a gastrostomy tube may be needed (in up to one-third of patients).[9] The cause of death in those with Rett syndrome is often related to respiratory infection and aspiration/asphyxiation.

Current medical management is focused on the treatment of the patient’s signs and symptoms, and requires the collaboration of several medical specialties.