Rett syndrome

Rett Syndrome (RTT) is a genetic neurological disorder primarily affecting females, characterized by a progression of multiple impairments affecting language, motor skills, and growth. It typically manifests between 6 to 18 months of age. While symptoms and their severity can vary, common issues include language and coordination difficulties, repetitive movements, growth retardation, problems with walking, and a reduced head size. Seizures, scoliosis, and sleep disturbances are notable complications. Despite these challenges, individuals with Rett Syndrome can often live into middle age.

Etiology

Rett Syndrome is caused by a genetic mutation, specifically in the MECP2 gene on the X chromosome. The mutation is typically de novo, arising spontaneously rather than being inherited from parents, accounting for less than one percent of cases. As the mutation occurs on the X chromosome, the condition almost exclusively affects girls; boys with a similar mutation generally do not survive beyond infancy.

Diagnosis

Diagnosis of Rett Syndrome is symptom-based and can be confirmed with genetic testing to detect the MECP2 mutation. The diagnostic criteria encompass postnatal deceleration of head growth, loss of acquired purposeful hand skills followed by repetitive movements, social engagement impairments, poorly coordinated gait, and severe language development deficits.

Treatment and Management

While there is currently no cure for Rett Syndrome, symptom management is crucial to enhance the quality of life. Therapies include special education programs, physiotherapy, occupational therapy, speech therapy, and use of orthotic devices. Anticonvulsant medications can help manage seizures. Nutritional support is often necessary due to chewing and swallowing difficulties.

Epidemiology

Rett Syndrome is a rare disorder, affecting approximately 1 in 8,500 females.

History

Rett Syndrome was first described in 1966 by Andreas Rett, a Viennese pediatrician. His findings, initially published in German, did not receive global attention until 1983, when Swedish pediatrician Bengt Hagberg published an article in English and named the syndrome after Rett. The causative mutation in the MECP2 gene was discovered in 1999 by Lebanese-American physician Huda Zoghbi.

Research Directions

While the current management of Rett Syndrome focuses on symptomatic treatment, recent advances in understanding the molecular pathogenesis have opened up possibilities for targeted therapeutics. Preclinical studies have indicated that the neurological dysfunction in Rett Syndrome might be reversible, paving the way for new strategies that could restore normal neuronal function.

See Also

• Genetic disorder
• MECP2
• X chromosome
• Neurological disorders
• Seizures
• Scoliosis
• Sleep disorders
• Special education
• Physiotherapy

References

Rett syndrome Resources
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