FOXP2

What is a FOXP2-related speech and language disorder?

FOXP2 is a gene on chromosome 7q.31.1. FOXP2 is a transcriptor protein which controls the activity of other genes.1 FOXP2 is important for brain development (pre and post birth) and growth of nerve cells. FOXP2 protein is important in the transmission of signals between the brain and the nerve cells and plays an important role in synaptic plasticity1.

FOXP2- only related speech and language disorder occurs when there is a change or alteration (like a spelling mistake) within the FOXP2 gene, meaning the gene loses its usual function. This results in changes to the usual development patterns in the affected individual. FOXP2-plus related speech and language disorder occurs when there is a deletion or duplication of chromosome 7q31.1 that involves not only FOXP2, but also typically neighbouring genes. The type of FOXP2 variation that the individual has will determine whether only speech and language is impacted (FOXP2-only related speech and language disorder) or whether the individuals will experience broader (global) developmental delays or behavioural difficulties (FOXP2-plus related speech and language disorder).3 Childhood Apraxia of Speech (CAS) is a key phenotypic feature in individuals with a FOXP2 variant.

 

Ongoing work?

Our team are continuing to study the abilities of individuals with FOXP2-related speech and language disorders. Please contact geneticsofspeech@mcri.edu.au  to learn more about the study. We would love to have your involvement.

 

For further information contact:

For further information, do get in touch with the CRE Speech and Language research team at:

Email: geneticsofspeech@mcri.edu.au

Phone: (03) 9936 6334

Frequently asked questions

Individuals with FOXP2-only related speech and language disorder typically experience CAS, verbal IQ and expressive and receptive language impairments, fine motor skill deficits and very subtle dysmorphic findings. Impaired nonverbal IQ and gross motor skills are rarely seen.3 By contrast, individuals with FOXP2-plus speech and language disorder commonly experience non-verbal IQ deficits, global developmental delay, and autistic features.3 Literacy skills may also be impaired in either FOXP2-only or FOXP2-plus conditions.3

CAS is a core features of FOXP2-related speech and language disorders and hence first words are typically delayed and a disordered speech development trajectory is noted from this time.

A key feature of a FOXP2 gene variation is CAS. 3 CAS is a motor disorder that affects the production, sequencing and stress of speech.2 Dysarthria and oral motor dyspraxia, have also been frequently reported in individuals with a FOXP2-related speech and language disorder.3

We are currently studying how an individual with a FOXP2-related speech and language disorder will develop their speech over time. From the studies available, we have noted variability across individuals with the condition, with better speech outcomes for individuals with the FOXP2-only related disorder.

Many children with FOXP2-related speech and language disorders attend mainstream schools with support including speech and language therapy.

Currently, interventions are specific to an individual’s communication needs. Individuals with FOXP2-related speech and language disorders require a speech pathology or speech therapy assessment to ensure tailoring of best-evidenced interventions to the individual’s profile.

Currently there are a number of treatments for CAS, such as the Nuffield Dyspraxia Programme version 3 (NDP-3) and the Rapid Syllable Transition Treatment (ReST) which are supported by the highest level of evidence at present.5

References

  1. Genetics Home Reference. (2019). FOXP2 gene. Retrieved
    https://ghr.nlm.nih.gov/gene/FOXP2#location
  2. Liegeois, F., Morgan, A.T., Connelly, A., & Vargha-Khadem, F. (2011). Endophenotypes of FOXP2: dysfunction within the human articulatory network. European Journal of Paediatric Neurology, 15(4), 283-288.
  3. Morgan, A., Fisher, S.E., Scheffer, I., Hildebrand, M. (2016). FOXP2- Related Speech and Language Disorders. GeneReview.
  4. Murdoch Children’s Research Institute. Fact Sheet: Childhood Apraxia of Speech. Retrieved
    https://www.mcri.edu.au/sites/default/files/media/documents/cres/fact_sheet_childhood_apraxia_of_speech.pdf
  5. Murray, E., McCabe, P., & Ballard, K.J. (2015). A Randomized Controlled Trial for Children With Childhood Apraxia of Speech Comparing Rapid Syllable Transition Treatment and the Nuffield Dyspraxia Programme-Third Edition. Journal of Speech, Language and Hearing Research, 58(3), 669-686.

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