Defining the clinical features of Rett-like disorders

Takeaway

  • Rett (RTT)-like disorders display significant heterogeneity in symptoms, age of regression and age of seizure onset.

Why this matters

  • RTT is the most prevalent developmental encephalopathy (DE); disorders termed ‘RTT-like’ may have significant developmental, clinical and genetic differences, which warrant their consideration as unique disorders.

  • Identifying RTT-like syndromes as unique disorders may lead to distinct therapeutic and management approaches.