Rett Syndrome: Symptoms, Causes, Treatment
متلازمة ريت
Rett syndrome is a genetic neurodevelopmental disorder, usually affecting girls, that may cause loss of hand or communication skills after early development. Any developmental regression warrants assessment rather than prolonged waiting.
What is Rett Syndrome?
The pattern changes with age, and some abilities may stabilize after regression. Limited speech alone does not define understanding. Communication aids and rehabilitation should reflect the individual’s abilities.
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Symptoms
Features may include repetitive hand movements, loss of purposeful hand use, reduced speech, walking difficulty, irregular breathing, sleep disturbance or seizures. Not everyone has every feature, and other disorders can appear similar.
Causes
Typical cases often involve a change in the MECP2 gene. Most arise as new variants. The disorder is not caused by parenting style or psychological events.
Risk factors
Girls are most often affected, but boys can also be affected. Most families have no previous history. Neither appearance nor sex alone determines diagnosis or support needs.
Diagnosis
A developmental or pediatric neurology assessment considers the developmental history, examination and clinical criteria, alongside appropriate genetic testing. A genetic finding requires clinical interpretation rather than replacing evaluation.
Treatment
Care supports communication, movement and nutrition and manages seizures with cardiac, respiratory and skeletal monitoring. Trofinetide may be considered where approved and available; it is not a cure and can cause diarrhea or vomiting requiring a clinician-led monitoring plan.
Complications
Swallowing difficulties, undernutrition, scoliosis, contractures, rhythm problems and epilepsy can occur. Not every unusual movement is a seizure; documenting events and discussing them is safer than independently altering medicines.
Prevention
No home measure prevents the genetic change. Early assessment and individualized nutritional, rehabilitation and follow-up plans help reduce complications. Genetic counseling explains family needs and recurrence risk.
When to see a doctor
Seek pediatric review for lost skills or altered hand use. Apnea, blue coloration, choking or prolonged or repeated seizures without recovery requires emergency help. Reduced ability to drink needs prompt assessment.