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.