Rett syndrome is a rare genetic neurological disorder that
predominantly affects females, with an incidence of
approximately 1 in 10,000 to 15,000 live female births. It was first
described by Dr. Andreas Rett in 1966. The disorder is
characterized by normal early growth and development followed
by a period of regression, where the child loses acquired skills
such as purposeful hand movements and speech.
Causes
Rett syndrome is primarily caused by mutations in the MECP2
gene located on the X chromosome. This gene is crucial for brain
development and function. The mutation leads to a deficiency in
the MeCP2 protein, which is essential for regulating other genes.
While the disorder is usually sporadic, less than 1% of cases are
inherited.
Symptoms
The symptoms of Rett syndrome typically appear between 6 to 18
months of age and progress through four stages:
1. Early Onset (Stage I): This stage is often subtle and may be
overlooked. Symptoms include reduced eye contact, delays
in motor skills, and decreased interest in toys.
2. **Rapid Destructive (Stage II): This stage usually begins
between ages 1 and 4 and is marked by a rapid loss of
purposeful hand skills and spoken language. Children may
exhibit repetitive hand movements, such as wringing or
clapping, and experience social withdrawal.
3. Plateau (Stage III): This stage can last for many years. While
motor problems and seizures may become more prominent,
behavioral issues may improve, with less irritability and
crying.
4. Late Motor Deterioration (Stage IV): This stage is
characterized by reduced mobility, muscle weakness, and
scoliosis. Communication abilities may remain stable or
improve slightly.
Diagnosis
Diagnosis of Rett syndrome is based on clinical evaluation and
genetic testing to identify mutations in the MECP2 gene. The
diagnostic criteria include a period of normal development
followed by regression, loss of purposeful hand skills, and the
presence of repetitive hand movements.
Treatment
There is currently no cure for Rett syndrome. Treatment focuses
on managing symptoms and improving quality of life. This
includes physical therapy, speech therapy, and occupational
therapy to help maintain motor and communiccomplication.
Medications may be prescribed to manage seizures, breathing
irregularities, and other complications.
Conclusion
Rett syndrome presents significant challenges due to its complex
nature and the profound impact it has on affected individuals and
their families. Despite the absence of a cure, ongoing research
and advancements in genetic understanding offer hope for future
therapeutic interventions. Comprehensive care, including
physical, speech, and occupational therapies, plays a crucial role
in managing symptoms and enhancing the quality of life for those
with Rett syndrome. As our knowledge of the MECP2 gene and its
functions deepens, the potential for developing targeted
treatments increases, bringing us closer to more effective
management and possibly even a cure. Continued support for
research and awareness is essential to improve outcomes and
provide better support for those living with this condition.
[NHS](https://www.nhs.uk/conditions/rett-syndrome/)
[NICHD](https://www.nichd.nih.gov/health/topics/factsheets/rett)
[Orphanet](https://www.orpha.net/en/disease/detail/778)
[Rett Syndrome Organization]
(https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-
syndrome/)
