Editorial Team
... Read More
By clicking “Accept All Cookies”, you agree to the storing of cookies on your device to enhance site navigation, analyze site usage, and assist in our marketing efforts. Cookie Policy.
Written By: Editorial Team | Published : October 18, 2018 10:57 AM IST
Facts about Rett Syndrome. © Shutterstock
Rett syndrome is a rare progressive neurodevelopmental disorder with an incidence of about 1 in 10,000 births. "It occurs almost exclusively in girls, may be lethal in males. It is characterized by early neurological regression that severely affects cognitive, communication and motor skills, leading to emergence of autistic features, stereotyped hand movements, other motor abnormalities and often associated with seizures," says Dr Anaita Hegde, Consultant Pediatric Neurologist at Jaslok Hospital and Research Centre. She also tells you about the treatment.
Everything about it
Stage 1 - The symptoms begin between 6 to 18 months of age with subtle slowing of development. The infant may begin to show less eye contact and have reduced interest in surroundings. There may be delays in gross motor skills, development of hand-wringing and decreasing head growth.
Stage 2- is the rapid destructive phase, usually begins between ages 1 and 4 and may last for weeks or months. Children may develop breathing irregularities such as episodes of aponea and hyperventilation.
Stage 3- The plateau or pseudo-stationary stage, usually begins between ages 2 and 10 and can last for years. Coordination and motor problems, and seizures are prominent during this stage. However, there may be improvement in behaviour, with less irritability, crying, and autistic features.
Stage 4- The late motor deterioration stage, characterised by reduced mobility, curvature of the spine, muscle weakness and increased muscle tone. This can last for years or decades.
Treatment
There is no cure for Rett syndrome. Treatment is directed towards improving quality of life and providing supportive care. A multi-disciplinary approach is required including physiotherapy, occupational, speech therapy and special education. Rehabilitation programmes based on individual needs. Antiepileptic drugs for seizures. Management of associated co-morbities such as recurrent chest infections, gastric reflux, sleep problems, behaviour issues. Surveillance and management of complications like scoliosis and cardiac problems. Providing parent counselling and support.
Diagnosis is based on clinical presentation and can be confirmed with genetic testing. Many people with this condition live into middle age. With advent of genetics, antenatal testing can be offered to parents to protect in subsequent pregnancies.
