BENGALURU: Awareness about rare diseases can sometimes prevent serious conditions from being overlooked. One such condition is Rett Syndrome, a rare neurological disorder that many people aren’t familiar with.
Learning about Rett Syndrome is crucial, especially because babies with the disorder are usually born after normal pregnancies and deliveries.
Most infants with the disorder seem to grow and develop as expected for the first six months, which is why early signs and symptoms often go unnoticed. Since October is Rett Syndrome Awareness Month, CE reached out to local experts to shed more light on the disorder and what to watch out for.
Rett Syndrome, a rare and severe neurological disorder, primarily affects girls and occurs in approximately 1 in 10,000 to 15,000 live female births, says Dr Vittal Kumar Kesireddy, consultant neonatologist and paediatrics. He further adds,
“Caused by mutations in the MECP2 gene on the X chromosome, this disorder leads to significant impairments in cognitive, motor, and communication abilities. It typically manifests between 6 and 18 months of age, following a period of seemingly normal early development.”
Dr Raja Sekhar Reddy G, consultant neurologist, says, “Rett Syndrome is seen almost exclusively in females because the mutation on the X chromosome is usually fatal to male fetuses. It occurs due to a spontaneous mutation in the MECP2 gene and is not usually inherited.”
The symptoms with which one can identify Rett Syndrome include slowed growth, particularly of the head (microcephaly), loss of purposeful hand movements, and repetitive motions such as hand-wringing or clapping. Other common symptoms include loss of speech, severe motor difficulties, breathing irregularities, seizures, and sleep disturbances.
Children may also develop scoliosis, gastrointestinal problems, and difficulties with coordination and walking. The symptoms and their severity may vary for every child.
Clinically, Rett Syndrome progresses through four stages according to Dr Kesireddy.
“Early onset stagnation, rapid deterioration, plateau, and late motor deterioration. During the rapid deterioration phase, children lose previously acquired skills, such as the ability to speak or walk. Many also develop autistic-like behaviours, such as social withdrawal. The plateau phase often sees some stabilisation of symptoms but with persistent challenges in mobility and communication,” he explains.
Rett Syndrome in males
Rett Syndrome is rare in males due to its link to the X chromosome. “Boys with MECP2 mutations typically experience more severe symptoms, including early-onset encephalopathy, and often do not survive past infancy. In rare cases, males with an extra X chromosome (Klinefelter syndrome) may present milder symptoms similar to females,” he says, adding,
“Life expectancy for females with Rett Syndrome varies, but many can live into middle age, with some surviving into their 40s or 50s, provided they receive appropriate medical care. In contrast, males with Rett Syndrome typically have a significantly reduced life expectancy.”
Experts say that there is currently no cure for Rett Syndrome, but physical and occupational therapies, speech therapy, and medications can help manage symptoms and can significantly improve the quality of life for patients. “Ongoing clinical trials are exploring gene therapy and other innovative treatments that hold promise for the future,” concludes Dr Kesireddy.
Disclaimer : The information provided is not a substitute for medical advice, diagnosis, or treatment. Always seek the help of a medical professional regarding any health condition.