Rett Syndrome
A rare genetic neurological disorder mainly affecting girls
Quick Facts
- Type: Genetic neurological disorder
- Common cause: Change in the MECP2 gene
- Mainly affects: Girls
- Hallmark sign: Loss of purposeful hand use
Overview
Rett syndrome is a rare genetic disorder of brain development that mainly affects girls. Babies with Rett syndrome usually develop normally for the first 6 to 18 months of life. After this, development slows and the child gradually loses skills she had gained, such as purposeful use of the hands and spoken language, and develops characteristic repetitive hand movements.
Most cases are caused by a change in a gene called MECP2, which is important for normal brain function. Rett syndrome is a lifelong condition that affects movement, communication, and many body functions. While there is no cure, supportive care and therapies can help manage symptoms, ease discomfort, and improve quality of life. Research into treatments is ongoing.
Symptoms
Rett syndrome often follows a recognizable pattern over time. Common features include:
- Slowing of head growth, beginning in infancy
- Loss of purposeful hand skills after a period of normal development
- Repetitive hand movements, such as wringing, washing, clapping, or mouthing
- Loss of spoken language and communication skills
- Problems with walking, balance, and coordination
- Breathing irregularities while awake, such as breath-holding or rapid breathing
- Seizures
- Curvature of the spine (scoliosis) and muscle stiffness over time
Symptoms and severity vary. Many girls live into adulthood with ongoing care, though they require substantial support.
Causes
Most cases of Rett syndrome are caused by a change (mutation) in the MECP2 gene, which is located on the X chromosome and helps regulate the activity of other genes in the brain. When this gene does not work properly, brain development is affected.
The gene change almost always occurs spontaneously and is not inherited from a parent, which is why Rett syndrome rarely runs in families. Because the gene is on the X chromosome, the condition mainly affects girls; it is very rare in boys and tends to be more severe when it occurs in them. Genetic testing can confirm the diagnosis in most cases.
Risk Factors
- Female sex, as Rett syndrome mainly affects girls
- A spontaneous MECP2 gene change, which accounts for nearly all cases
- There are no known behaviors or exposures during pregnancy that cause it
Because the gene change almost always arises new in the child, Rett syndrome is rarely inherited, though genetic counseling can address questions about recurrence.
Diagnosis
Rett syndrome is diagnosed based on its characteristic pattern of development and confirmed with genetic testing:
- Clinical evaluation: Recognizing the typical pattern of normal early development followed by loss of hand use and language, with repetitive hand movements.
- Genetic testing: Testing for a change in the MECP2 gene, which confirms the diagnosis in most cases.
- Additional assessments: Evaluating development, seizures, breathing, growth, and the spine, and ruling out other conditions with similar features.
Treatment
There is no cure, so treatment focuses on managing symptoms and supporting the best possible quality of life, usually with a team of specialists. Care may include:
- Therapies: Physical, occupational, and speech and communication therapy to support movement, hand use, and communication.
- Medications: To control seizures or address breathing, sleep, or behavioral concerns; medication options for Rett syndrome continue to evolve.
- Orthopedic care: Management of scoliosis and muscle stiffness, sometimes including braces or surgery.
- Nutritional support: Help with feeding, growth, and digestive issues.
- Ongoing monitoring: Regular checks of the heart rhythm, spine, growth, and overall health.
When to See a Doctor
Talk to your child's doctor if your child loses skills she previously had, such as hand use or words, shows slowing head growth, develops repetitive hand movements, or has delays in development. Early evaluation helps confirm the diagnosis and connect the family with supportive care.
Children with Rett syndrome need regular follow-up. Seek prompt or emergency care for:
- Seizures, especially a first seizure or a prolonged one
- Severe breathing difficulty or a bluish color
- Choking, feeding difficulty, or signs of dehydration
- A new or rapidly worsening change in alertness or movement
Frequently Asked Questions
What causes Rett syndrome?
Most cases are caused by a change in the MECP2 gene on the X chromosome, which is important for brain development. The change almost always arises spontaneously in the child rather than being inherited, which is why Rett syndrome rarely runs in families.
Why does Rett syndrome mostly affect girls?
Because the responsible gene is on the X chromosome, the condition mainly affects girls. It is very rare in boys and tends to be more severe when it does occur in them. The gene change usually happens by chance during development.
What is the hallmark sign of Rett syndrome?
A key feature is the loss of purposeful hand use after a period of normal early development, along with repetitive hand movements such as wringing or washing motions. Loss of spoken language and problems with movement are also characteristic.
Is there a cure for Rett syndrome?
There is currently no cure. Treatment focuses on managing symptoms and improving quality of life through therapies, medications for seizures and other issues, orthopedic and nutritional care, and ongoing monitoring. Research into new treatments is active.
Can people with Rett syndrome live into adulthood?
Many girls with Rett syndrome live into adulthood with comprehensive, ongoing care. The condition requires substantial support, and regular monitoring of the heart, spine, breathing, and overall health is an important part of care.
References
- National Institute of Neurological Disorders and Stroke (NINDS).
- National Institutes of Health (NIH), Genetic and Rare Diseases Information Center (GARD).
- MedlinePlus, U.S. National Library of Medicine. Rett syndrome.
- International Rett Syndrome Foundation.