What is Rett Syndrome?
Rett Syndrome is a rare genetic disorder that primarily affects girls. After 6-18 months of normal development, parents begin to see a decline in the new learning. Eventually, children with Rett’s can lose the ability to walk, talk, use their hands effectively, and complete daily tasks on their own. Many individuals with the disorder also have breathing problems, seizures, and curvature of the spine (scoliosis). Currently, although there is no cure for Rett Syndrome, therapy, equipment and medication may assist in the management of symptoms, which range from mild to severe.
Medicine is by no means a cure for Rett’s, but medications and supplements are used to relieve symptoms in some people. Medication has been shown to have some impact on muscle rigidity, irregular breathing, seizures, communication, repetitive hand movements and gastrointestinal problems.
Diet & Nutritional Therapy
Delayed or halted growth means that many individuals with Rett Syndrome do not achieve age-expected heights and weights. Increased calories and supplementary feedings may help normalize size, which some medical professionals believe will also improve alertness and social interaction. Gastric tube feedings may be recommended for some who have difficulty chewing and swallowing.
Though loss of motor coordination and reduced mobility are common in many girls and young women with Rett Syndrome, therapy can help prolong mobility. Braces, casts, crutches and individualized seating can address spinal curvature and walking difficulties while increasing comfort for the individual. In girls with Rett’s, an emphasis is placed on weight bearing, weight shifting, balance exercises, increasing bone density and strengthening the feet.
Through play-based therapy, focused exercises and adapted devices, occupational therapists (OTs) can help individuals perform daily living tasks with more independence. OTs will sometimes start the ball rolling for a student to receive funded equipment and assistive technology in school, such as computers or augmentative communication devices.
Speech and language abilities vary widely within those with Rett Syndrome. Some are able to speak while others rely on signing, communication boards, augmentative communication devices or eye gaze to communicate. Speech language pathologists work with families to choose the most appropriate methods and set goals for therapy accordingly.
Families, educators and members of community agencies can provide the best services to those with Rett Syndrome, by working together to develop goals, plans of actions and transition support. With the solid backing of a caring team, individuals and their families can advocate for the most appropriate therapies available, allowing them to participate in their world with as much comfort, involvement and independence as possible.
The International Rett Syndrome Foundation states that “Rett Syndrome is the only autism spectrum disorder with a known cause”, providing hope for many individuals and their families. Future research will involve stem cell and gene therapies, in the hopes of finding a cure and being able to reverse damage in some individuals.
References & Resources
International Rett Syndrome Foundation, https://www.rettsyndrome.org/
Mayo Clinic: Rett Syndrome, Treatments and Drugs, https://www.mayoclinic.com/health/rett-syndrome/DS00716/DSECTION=treatments-and-drugs
Medline Plus Medical Encyclopedia: Rett Syndrome, https://www.nlm.nih.gov/medlineplus/ency/article/001536.htm
National Institute of Neurological Disorders and Stroke: Rett Syndrome Fact Sheet, https://www.ninds.nih.gov/disorders/rett/detail_rett.htm