What is Rett syndrome?

Rett syndrome is a rare developmental regression disorder in infants caused by brain growth issues. The infant has a normal developmental trajectory in all aspects until the age of 5 months. Between 6 months and 48 months, the child experiences progressive respiratory problems, and previously learned speech and skills are lost. This disorder occurs “only in girls.” Rett disorder is a progressive condition.

Rett syndrome occurs due to a genetic mutation on the X chromosome. The genetic mutation occurs on the MECP2 gene and disrupts the production of proteins that affect brain development.

Signs of Rett syndrome

Advanced encephalopathy and respiratory disorder
Microcephaly and slowing of head circumference growth
Apraxic gait
Ataxia and stereotyped, aimless hand movements
Loss of previously learned speech
Slowed mental and motor activity

Diagnosis of Rett syndrome

core/heading (h2)
Diagnosis of Rett syndrome
Blood and urine tests
Hearing and vision tests
Magnetic resonance imaging (MRI)
Computed tomography scan (CT)
Brain activity test (EEG)

Treatment of Rett syndrome

Medication therapy
Physiotherapy
Speech therapy
Proper nutrition