Damian M. May, PharmD, MBA, Senior Director Of Health Economics and Outcomes Research at Acadia Pharmaceuticals, discusses the multidisciplinary approach to care needed 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. Common symptoms include hand-wringing; fits of screaming and inconsolable crying; autistic features; panic-like attacks; bruxism; episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Rett syndrome is most commonly caused by a sporadic mutation in the MECP2 gene on the X chromosome.
As Dr. May explains, because Rett syndrome is a multifaceted disease, it requires coordination between multiple specialists to manage. The primary specialist involved for young patients is usually a pediatrician or a pediatric neurologist, but multiple specialists will be required for the many systems impacted (e.g., neurologist, gastroenterologist, occupational therapist, orthopedic specialist, etc).
To learn more about Rett syndrome and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/
