Clinical Guidance

Available evidence to date suggests that FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous FOXP2 pathogenic variants (including whole- or partial-gene deletions). FOXP2-SLD has a core phenotype: childhood apraxia of speech (CAS), a disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, and the accurate sequencing of speech sounds into syllables and syllables into words. In addition, CAS interferes nonselectively with multiple other aspects of language, including phonology, grammar, and literacy. The interactions between these communication disorder subtypes are not well understood.

Diagnostic Criteria

No consensus clinical diagnostic criteria for FOXP2-related speech and language disorder (FOXP2-SLD) have been published.

Suggestive Findings

FOXP2-SLD should be suspected in a child with the following clinical findings and family history.

Clinical Findings

Childhood apraxia of speech (CAS) (also known as developmental verbal dyspraxia, verbal dyspraxia, or speech dyspraxia)

Source: GeneReviews — "FOXP2-Related Speech and Language Disorder"

Management Guidelines

No clinical practice guidelines for FOXP2-related speech and language disorder (FOXP2-SLD) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and management needs for an individual with FOXP2-SLD, the following evaluations conducted by a trained and specialized speech-language pathologist are recommended:

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the following evaluations are recommended:

• Routine care by a general pediatrician

• Follow-up evaluations with standardized tests by a speech-language pathologist