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-related speech and language disorder (FOXP2-SLD) otherwise occurs when there is a change or alteration (like a spelling mistake) within the FOXP2 gene, meaning the gene loses its usual function. The spelling mistake in FOXP2 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 feature in individuals with FOXP2-SLD.

The information provided on this webpage pertains to FOXP2-SLD (individuals with genetic spelling mistakes affecting only the FOXP2 gene) and not larger deletions (as seen in FOXP2-plus related speech and language disorder).

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-SLD typically experience CAS, verbal IQ and expressive and receptive language impairments, fine motor skill deficits and very subtle dysmorphic findings.3,4 Some individuals have mild intellectual disability, whilst others have average cognitive ability.4 Literacy skills may also be impaired in  FOXP2-SLD.3,4 A small number of children have autism spectrum disorder.4 Half of individuals have gross motor impairment in early childhood, and approximately 1/4 of individuals have fine and gross motor impairment.4 

Almost half of individuals with FOXP2-SLD have sleep disturbances. A few individuals with FOXP2-SLD may have particular facial features, but no consistent pattern has been identified amongst the group.4

By contrast, individuals with FOXP2-plus speech and language disorder (with large deletions encompassing the FOXP2 gene) commonly experience non-verbal IQ deficits, global developmental delay, and autistic features.3

The following information provided on this webpage pertains to individuals with FOXP2-SLD, and not individuals with FOXP2-plus speech and language related disorder. 

Many individuals have limited babbling as babies. More than half of individuals with FOXP2-SLD say their first words after 18 months old, which is older than is seen in typically developing children (12-15 months old).4 

Likewise, many children learn to combine words to create sentences later than seen in typical development (2-3 years), with many children with FOXP2-SLD combining words as late as 8 years old, and some children not learning to combine words into adolescence.4

 

A key feature of FOXP2-SLD is CAS.2-4 CAS is a motor disorder that affects the production, sequencing and stress of speech.2,5

Many children have co-occurring speech disorders, most commonly CAS and phonological disorder.4

Dysarthria has also been reported in a few individuals with a FOXP2-SLD.3,4

For some children, their speech challenges mean that they use augmentative and alternative communication (AAC) methods to support their communication. Some children use sign language, whilst others use graphic, aided AAC systems (e.g., communication books, high-tech speech generating devices).4

For adults with the FOXP2-SLD, whilst speech impairment is usually still evident, these challenges tend to lessen in severity as individuals grow older. Some speech sounds (e.g., the 'r' and 'th' sounds) remain challenging into adulthood for many individuals.4

Most children with FOXP2-SLD attend mainstream schools with support including speech and language therapy. Some children attend special education schools.4

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

Due to the high incidence of literacy impairment, it is important that children with FOXP2-SLD receive systematic and intensive literacy supports to learn to write and read.4

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.5,6

For information and support on childhood apraxia of speech: https://www.apraxia-kids.org 

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. (2013). FOXP2- Related Speech and Language Disorders. GeneReviews.
  4. Morison, L. D., Meffert, E., Stampfer. M., Steiner-Wilke. I., Vollmer, B., Schulze, K., Briggs, T., Braden, R., Vogel, A., Thompson-Lake, D., Patel, C., Blair. E., Goel, H., Turner, S., Moog, U., Riess, A., Liegeois, F., Koolen, D. A., Amor, D. J., Kleefstra, T., Fisher, S. E., Zweier, C., Morgan, A. T. (2022). In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Genetics in Medicine. doi:10.1136/jmg-2022-108734 
  5. 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
  6. 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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