FOXP1

What is a FOXP1-related speech and language disorder?

FOXP1 is a gene found on chromosome 3p13. Affected individuals (those with alterations/variants in the FOXP1 gene) often have a range of difficulties with their speech and language. Their speech may be characterised by dysarthria with some features of apraxia. This means they have difficulty controlling the muscles that produce speech, which can make their speech difficult to understand. The majority of individuals also have phonological errors, meaning they have trouble understanding the sounds of their language and how sounds should be contrasted. Children with phonological disorder often use sound patterns that are typically seen in the speech of younger children. Children with FOXP1 disorder also have difficulties expressing themselves in terms of organising and producing words and sentences (expressive language impairment) or understanding sentences and words (receptive language impairment). However, expressive language skills tend to be stronger than receptive language skills in most individuals with FOXP1 disorder.1

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

Children with FOXP1-related speech and language disorder may experience Global Developmental Delay, Intellectual Disability, features of Autism Spectrum Disorders (ASD) and behavioural difficulties, such as obsessions, compulsions, aggression and hyperactivity.2

Some individuals with FOXP1-related speech and language disorder have variants in the FOXP1 gene only. Others have more complex alterations that include the FOXP1 gene, as well as other genes which sit beside FOXP1 on chromosome 3p. This may affect the severity and type of health and developmental conditions that are experienced by each individual person.

The age that children with FOXP1-related speech and language disorders start talking is different for every individual. Only one study has evaluated the age that children with FOXP1-related speech and language disorders developed first words. This study suggested that most children did experience some delay in language development, on average saying their first words between 14 and 42 months (average age 26.8 months) and first phrases between 24 and 96 months (average age 53 months).2

At the moment, we do not have enough evidence to understand the key features of children’s speech sound production, for example how clear their speech is or whether they might have speech sound disorders, such as articulation disorder or Childhood Apraxia of Speech. Most children do experience receptive and expressive language delay and disorder, which can affect their learning.2

At the moment, we do not have enough evidence to understand how speech develops and changes over time in children with FOXP1-related speech and language disorders.

Some children with FOXP1-related speech and language disorders do attend mainstream schools. Due to the Intellectual Disability and features of ASD, many children attend supported education settings. This differs for every child, and usually depends on the presence and severity of Intellectual Disability, ASD and behavioural difficulties, the local schooling system and individual family preferences.

At the moment, there is not enough evidence to support use of any particular speech and language therapy approach for children with FOXP1-related speech and language disorder. There are a number of evidence-based treatments for childhood apraxia of speech (CAS), such as the Nuffield Dyspraxia Programme version 3 (NDP-3) and the Rapid Syllable Transition Treatment (ReST) which may be beneficial for some individuals.3

Moreover, there is some evidence that therapies targeting breath support for speech may improve speech intelligibility and voice quality in children with dysarthria.4

Speech sound and language abilities should be assessed by a speech pathologist to determine a child’s communicative strengths and weaknesses. Every child’s communication profile is different, and the treatment approach selected will depend on their individual abilities and needs.

At the moment, we do not have enough information to understand or anticipate the speech and language abilities that may be present in adolescents and young adults.

At the moment, published evidence about the speech of children with FOXP1-related speech and language disorder is very limited, so we are unable to say how speech may change across an individual’s lifespan.

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

References

  1. Braden, R. O., Amor, D. J., Fisher, S. E., Mei, C., Myers, C. T., Mefford, H., Gill, D., Srivastava, S., Swanson, L. C., Goel, H., Scheffer, I. E., & Morgan, A. T. (2021). Severe speech impairment is a distinguishing feature of FOXP1‐related disorder. Developmental Medicine & Child Neurology. https://doi.org/10.1111/dmcn.14955
  2. Siper, P.M., De Rubeis, S., Trelles, M.D.P., Durkin, A., Di Marino, D., Muratet, F., Frank, Y., Lozano, R., Eichler, E.E., Kelly, M., Beighley, J., Gerdts, J., Wallace, A.S., Mefford, H.C., Bernier, R.A., Kolevzon, A., & Buxbaum, J.D. (2017). Prospective investigation of FOXP1 syndrome. Molecular Autism, 8(1), 57.
  3. 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.
  4. Pennington, L., Parker, N.K., Kelly, H., & Miller, N. (2016). Speech therapy for children with dysarthria acquired before three years of age. Cochrane Database Systematic Review, 18, 7:CD006937.

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