Alan Percy, MD, Pediatric Neurologist at University of Alabama at Birmingham, discusses the current management and obstacles of Rett syndrome patients.
Rett syndrome is a neurodevelopmental condition primarily affecting girls. Patients with the disease appear to have normal psychomotor development during the first 6 to 18 months of life. A developmental “plateau” follows, and then rapid regression in language and motor skills. Additional signs and symptoms may include:
- Repetitive, stereotypic hand movements
- Fits of screaming and inconsolable crying
- Autistic features
- Panic-like attacks
- Teeth grinding
- Episodic apnea and/or hyperpnea
- Gait ataxia and apraxia
- Tremors
- Seizures
- Slowed head growth
Classic Rett syndrome is most commonly caused by genetic changes in the MECP2 gene and is usually inherited in an X-linked dominant manner.
As Dr. Percy explains, management of Rett syndrome is individualized to each patient’s unique set of symptoms and needs. However, recently published guidelines lend physicians a framework for properly managing these patients. The primary care physician plays an instrumental role in the patient’s treatment, helping to refer specialists and create a collaborative team.
Dr. Percy also describes how geographic location of patients has an effect on their access to care, even with the establishment of centers of excellence. Patients living in more rural areas, and often in the western United States, are further from these centers and thus further from proper care.
To learn more about Rett syndrome and other rare neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/