Rett Syndrome in Children

Rett syndrome is a genetic neurodevelopmental disorder that is rare and mainly affects females. Individuals with Rett syndrome generally have typical development during the first 12 to 24 months of life before experiencing a regression in speech and motor skills and developing other symptoms. It affects approximately one in 10,000 girls and was first described in 1966.

Causes of Rett Syndrome

Children are born with Rett syndrome. It is most commonly caused by mutations in the MECP2 gene on the X chromosome, however other causes have also been identified.

Symptoms of Rett Syndrome

Rett syndrome symptoms vary greatly, ranging from mild to moderate. Parents often notice their child beginning to lose acquired speech and motor skills starting between 12 and 24 months of age.

Hallmark symptoms:

• Loss of speech and language skills after typical development
• Progressive loss of fine motor skills
• Development of hand movements such as hand flapping or hand wringing
• Gait abnormalities
• Intellectual disability

Other symptoms include:

• Slowing of head growth (acquired microcephaly)
• Breathing dysfunctions including breath holding
• Seizures
• Behaviors that resemble autism spectrum disorder
• Cardiac arrhythmias
• Scoliosis
• Sleep disturbances
• Eating difficulties
• Impaired mobility

Diagnosing Rett Syndrome

This condition is typically diagnosed between 12 and 36 months of age based on a clinical evaluation of symptoms and developmental history, along with genetic testing to identify gene mutations. Early diagnosis is important for treatment.

Treatment of Rett Syndrome

Currently there is no cure for Rett syndrome. Treatment focuses on managing symptoms and maximizing function through physical, occupational and speech therapy and other specialized care. There are several potential therapeutic interventions presently in clinical trials.