Rett Syndrome

Diagnosis is based on clinical criteria and confirmed by genetic testing:

Clinical criteria:

• Regression in motor and communication skills
• Hand stereotypies
• Gait abnormalities
• Loss of social engagement

Genetic testing:

• DNA analysis of the MECP2 gene
• Testing for other associated genes in atypical variants (e.g., CDKL5, FOXG1)

Neurophysiological and imaging tests:

• EEG abnormalities (often evolving with age)
• Brain MRI may show nonspecific cerebral atrophy
• Early diagnosis allows for timely initiation of therapy and access to clinical trials.

There is no cure for Rett Syndrome, but supportive care and multidisciplinary interventions significantly improve quality of life:

• Seizure management with antiseizure medications
• Physical and occupational therapy to support motor function
• Speech and language therapy, including communication devices
• Nutritional support, as feeding difficulties and growth issues are common
• Management of breathing and autonomic symptoms
• Behavioral and sleep interventions
• Individualized education and long-term care planning are crucial for families and caregivers.