FOXP2

Management

Examination after diagnosis
To establish the clinical management needs for an individual with a FOXP2-related disorder, a speech-language pathologist/speech-language therapist should conduct an examination including the following:

  • Detailed developmental and medical history.
  • Oral-facial structural and functional examination.
  • Speech sound assessment, differentiating whether the child has articulation errors, phonologic errors, apraxic errors, dysarthric errors, or a mixed profile.
  • Language assessment identifying the extent of receptive and/or expressive language impairments, and the language domains (semantics, syntax, morphology) affected.
  • Literacy assessment or pre-literacy assessment for preschool children.
  • Social skills assessment for the presence of autistic features.

Additional follow-up examinations

  • Consultation with a clinical geneticist and/or genetic counsellor.
  • Referral to a neurodevelopmental team for a formal autism spectrum disorder diagnosis.
  • Referral to a neuropsychologist or clinical psychologist to determine the extent of any coexisting cognitive and learning impairments.
  • Referral to a physiotherapist if gross motor movement deficits are reported or an occupational therapist if fine motor movement difficulties are observed.
  • Consideration of MRI to test for the presence of a neurologic lesion if indicated.

Intervention
Speech and language deficits. A speech-language pathologist/speech-language therapist will apply therapies targeted to the specific profile of an affected individual; hence, a thorough assessment to differentiate between specific linguistic deficits is important.
The optimal approach is determined based on the individual’s profile regarding:

  • Speech, language and literacy impairments.
  • Cognitive deficits. A clinical psychologist or neuropsychologist provides strategies to manage specific cognitive or social skill domains.
  • Fine and gross motor deficits. An occupational therapist and physiotherapist are best placed to provide intervention for motor deficits.

Surveillance

  • Routine care by a general pediatrician.
  • Follow-up evaluations with standardized tests by a speech-language pathologist/speech-language therapist.
  • Evaluation of relatives at risk.
  • It is appropriate to clarify the genetic status of apparently asymptomatic sibs by molecular genetic testing of FOXP2 variants to identify those who would benefit from prompt intervention.

See the Professionals – Molecular characteristics section for information on genetic counseling related to testing of at-risk relatives.