Abstract
Investigators at Emory University, Atlanta, GA; Stony Brook, New York; University of California, San Diego; and other centers determined the type of physician who makes the Rett syndrome (RTT) diagnosis and identified risk factors for delayed diagnosis.
Highlights
A high index of suspicion between ages 6 months to 3 years, and greater awareness of the diagnostic importance of delay in advanced skills should lead to improvement in the age of diagnosis [1]
Diagnosis is important in family planning, and emphasis on intervention services
Epilepsy is a core symptom of Rett syndrome, occurring in 60 – 70% of patients, with uncontrolled seizures in 30% [2]
Summary
Children with Rett syndrome, almost exclusively female, have delayed milestones. Regression occurs after 12 months in >90%, and is followed by phase of recovery or stagnation. A high index of suspicion between ages 6 months to 3 years, and greater awareness of the diagnostic importance of delay in advanced skills should lead to improvement in the age of diagnosis [1].
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