What is FOXP1 syndrome?

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Individuals with FOXP1 syndrome experience developmental delays, speech impairments, and other neurological and behavioral challenges. Symptoms emerge in early childhood and often include speech delays, low muscle tone, and developmental delays, though the severity and specific symptoms can vary widely between individuals. As the condition is still being studied, researchers are learning more about its impact on neurodevelopment.

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What causes FOXP1 syndrome?

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FOXP1 syndrome is caused by a mutation or change to the FOXP1 gene. The gene is located on chromosome 3 and includes the instructions or “recipe” for making the Forkhead BOXP1 protein. FOXP1 controls when and how specific genes affect the development of the nervous system, along with many other systems. When a gene like FOXP1 does not function properly it can lead to a wide range of developmental delays and medical needs.​ In most cases, the mutation occurs spontaneously (de novo) during early fetal development, meaning it is not inherited from the parents. However, in rare instances, it can be inherited from a parent who carries the mutation. 

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What are the symptoms of FOXP1 syndrome?

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FOXP1 syndrome is characterized by:

• Delays in early motor and language milestones

• Mild-to-severe intellectual deficits

• Speech and language impairment in all individuals regardless of level of cognitive abilities

• Behavior abnormalities including:

  • autism spectrum disorder or autistic features

  • attention-deficit/hyperactivity disorder

  • anxiety

  • impulsivity

  • aggression

  • mood lability

  • obsessions

  • compulsions

  • repetitive behaviors

  • sleep disturbances

  • sensory symptoms

• Motor dysfunction including:

  • fine motor weakness

  • gross and fine motor delays

  • hypotonia

  • gait abnormality

 

Other common findings are:

• ​cardiac abnormalities

• anomalies of the kidney and urinary tract

• oromotor dysfunction (contributing to speech and feeding difficulties)

• nonspecific dysmorphic facial features

• cryptorchidism

• hypertonia

• muscle spasms

• hearing impairment

• epilepsy

• feeding difficulties

• strabismus, refractive errors

• congenital abnormalities of the heart and/or kidneys

• gastrointestinal problems

• incontinence

• genital abnormalities

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What is the treatment for FOXP1 syndrome?

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Currently, there is no treatment or cure for FOXP1 syndrome. Most care strategies focus on symptom management through a multidisciplinary approach to improve quality of life. The International FOXP1 Foundation offers resources and information about these strategies, helping families navigate therapies and support options.

 

What is the prognosis for an individual with FOXP1 syndrome?

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Based on current data, life span is not limited in FOXP1 syndrome [Palumbo et al 2013, Song et al 2015]. The progression of neurologic findings in adulthood has not been described. Since many adults with disabilities have not undergone advanced genetic testing, adults with FOXP1 syndrome are likely underrecognized and underreported.

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How common are FOXP1 gene mutations?

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FOXP1 mutations are rare, but more and more cases are being identified as genetic testing becomes more widespread. Each year dozens of new cases are identified around the globe. There are likely many more people carrying mutations in the gene who have not yet been diagnosed.