childhood apraxia of speech

Childhood apraxia of speech is a neurodevelopmental disorder that primarily affects the planning and coordination of the movements required for speech. It is associated with changes in the FOXP2 gene, which plays a critical role in speech and language development. The condition is typically recognized in early childhood when delays in speech and language become apparent. In terms of prevalence, it is very rare, affecting fewer than 1 in 1,000,000 people.

Children with this condition often exhibit an abnormal speech pattern characterized by poor articulation and inconsistent errors in speech production. Early features include delayed speech and language development, difficulty in forming clear speech sounds, and challenges with both expressive and receptive language. Some individuals may also experience dysarthria, specific learning disabilities, and issues with fine motor coordination, while less commonly, feeding difficulties and drooling are observed. Not all individuals experience all features, and severity varies considerably.

The genetic basis of childhood apraxia of speech involves pathogenic variants in the FOXP2 gene. FOXP2 is essential for the normal development of speech and language pathways in the brain, and disruption of its function can impair the ability to coordinate the complex motor sequences required for speech. This condition is inherited in an autosomal dominant pattern, meaning that a single altered copy of the gene is sufficient to contribute to the development of the disorder. Families are encouraged to seek genetic counseling to understand the implications for family planning and to discuss potential risks for future offspring. Associated genes include FOXP2.