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Review

FOXP2- Related Speech and Language Disorder

Angela Morgan  1 , Simon E Fisher  2 , Ingrid Scheffer  3 , Michael Hildebrand  4
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
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Free Books & Documents
Review

FOXP2- Related Speech and Language Disorder

Angela Morgan et al.
Free Books & Documents

Excerpt

Clinical characteristics: FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous FOXP2 pathogenic variants (including whole- or partial-gene deletions). The core phenotype of FOXP2-SLD is 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. CAS also interferes nonselectively with multiple other aspects of language, including phonology, grammar, and literacy. Additional findings in FOXP2-SLD can include oral-motor dyspraxia (difficulty planning or programming oral movements on command); dysarthria; moderate-to-severe receptive and expressive language disorder; reading and spelling impairments; and fine motor difficulties. Nonverbal (performance) IQ is typically relatively preserved compared to verbal IQ; gross motor skills are normal. Autistic features or a diagnosis of autism spectrum disorder have been reported in some individuals.

Diagnosis/testing: The diagnosis of FOXP2-SLD is established in a proband with suggestive findings and a heterozygous pathogenic (or likely pathogenic) variant in FOXP2 identified by molecular genetic testing.

Management: Treatment of manifestations: There is no cure for FOXP2-SLD. Supportive care to improve quality of life, maximize function, and reduce complications is recommended. This ideally involves multidisciplinary care by speech-language pathologists (to individualize care, which may include use of nonverbal support or alternative means of communication), developmental pediatricians (to help guide parents through appropriate behavior management strategies and individualized education plans), occupational therapists (to address fine motor impairments), and mental health specialists (to address issues such as anxiety and depression, which can occur).

Surveillance: To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the following evaluations are recommended: follow-up evaluations with standardized tests by a speech-language pathologist; review of educational progress/needs; review of mental health if anxiety and/or depression have been issues or have emerged as issues.

Genetic counseling: FOXP2-SLD is inherited in an autosomal dominant manner. About half of individuals diagnosed with FOXP2-SLD have the disorder as the result of a de novo pathogenic variant. If a parent of the proband has the FOXP2 pathogenic variant identified in the proband, the risk to sibs of inheriting the pathogenic variant is 50%. Once the FOXP2 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

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