Jeffrey L. Neul, MD, PhD, Director of the Vanderbilt Kennedy Center, and Professor of Pediatrics, Division of Neurology, Pharmacology, and Special Education, at the Vanderbilt University Medical Center, discusses the need for a multidisciplinary approach to care for Rett syndrome.

Rett syndrome is a rare progressive neurodevelopmental condition that primarily affects girls. These girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental “plateau,” and then rapid regression in language and motor skills. However, following this regression, around age 5, patients’ abilities often stabilize. This is where this disease differs from a neurodegenerative disorder like spinal muscular atrophy, in which the disease relentlessly worsens over time without treatment. Being a neurodevelopmental disorder, Rett syndrome patients do not experience neuronal death and can, therefore, see benefits to treatment at any age.

As Dr. Neul explains, it is important to consider a multidisciplinary approach when treating a patient with Rett syndrome as the disorder is complex and causes a wide variety of symptoms. This team may include speech therapists – particularly those specialized in augmentative and alternative communication, physical therapists, occupational therapists, gastroenterologists, pediatric surgeons, orthopedic surgeons, physiatrists, neurologists, and pulmonologists. It is important for these specialists to be specialized in, or at least familiar with, Rett syndrome.

For more information about Rett syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology