The identification of novel genes implicated in a severe childhood speech disorder

Takeaway

  • A greater understanding of the molecular basis of severe childhood speech disorders may help to pave the way towards identifying precision medicine approaches to treat the condition.

Why this matters

  • Approximately 1 in 1,000 patients present with persistent and intractable speech disorders such as childhood apraxia of speech (CAS). Patients with CAS exhibit a history of poor feeding, limited babbling, delayed onset of first words and highly unintelligible speech into their school years, when a diagnosis is usually made.

  • CAS is a distinctive, socially debilitating clinical disorder which also results in literacy deficits and restricted educational and employments outcomes.