FOXP1 intellectual disability

Common Name(s)

FOXP1 intellectual disability, Intellectual disability with language impairment and autistic features

FOXP1 intellectual disability is a rare genetic disorder that causes a child to have delayed speech and learning issues. Some children with this condition also have features of autism. Symptoms of the condition may include developmental disabilities with speech, intellectual (learning) disabilities, and possible issues with the immune system. Speech (expressive language) is usually more affected than understanding (receptive language). Children with this condition can also have mild (subtle) facial features, including a broad forehead, down slanting eyes, a short nose with a broad tip, and a large head (macrocephaly).

FOXP1 intellectual disability is inherited in an autosomal dominant manner, meaning that a mutation (change) in one of the two copies a child has is enough to cause the condition. The FOXP1 gene acts as an instruction for the body to make a protein that is important for the normal development of an embryo as well as normal function of the immune system, brain and spine (neurological system) after birth.

A doctor familiar with children who have genetic conditions (geneticist) may be able to diagnose FOXP1 intellectual disability based on a child’s symptoms of speech delay, learning problems, and subtle facial features. Genetic testing is the only way to officially confirm the diagnosis. Currently there is no cure for FOXP1 intellectual disability. Medications may be available for behavioral issues associated with the condition. Parents of an affected child should talk with their doctor to discuss current treatment options. Support groups for FOXP1 intellectual disability are great resources for additional information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "FOXP1 intellectual disability" for support, advocacy or research.

Cherab Foundation

We are a world-wide nonprofit organization working to improve the communication skills, education, and advocacy of the verbal disabled; all those with speech and language delays or impairments. Our area of emphasis is verbal apraxia which used to be rare but has been on the rise. We are committed to assisting with the development of new therapeutic approaches, preventions and cures to neurologically-based speech disorders that affect all ages with a focus on children. We bring together families, affected individuals, and medical, research, speech, and educational professionals.

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "FOXP1 intellectual disability" for support, advocacy or research.

Cherab Foundation

We are a world-wide nonprofit organization working to improve the communication skills, education, and advocacy of the verbal disabled; all those with speech and language delays or impairments. Our area of emphasis is verbal apraxia which used to be rare but has been on the rise. We are committed to assisting with the development of new therapeutic approaches, preventions and cures to neurologically-based speech disorders that affect all ages with a focus on children. We bring together families, affected individuals, and medical, research, speech, and educational professionals.

http://www.cherabfoundation.org

Last Updated: 26 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "FOXP1 intellectual disability" returned 2 free, full-text research articles on human participants. First 3 results:

A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.
 

Author(s): Reymundo Lozano, Arianna Vino, Cristina Lozano, Simon E Fisher, Pelagia Deriziotis

Journal: Eur. J. Hum. Genet.. 2015 Dec;23(12):1702-7.

 

FOXP1 (forkhead box protein P1) is a transcription factor involved in the development of several tissues, including the brain. An emerging phenotype of patients with protein-disrupting FOXP1 variants includes global developmental delay, intellectual disability and mild to severe speech/language ...

Last Updated: 31 Dec 1969

Go To URL
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.
 

Author(s): Fadi F Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Ronald G Lafrenière, Jean-Claude Lacaille, Laurent Mottron, Pierre Drapeau, Miriam H Beauchamp, Michael S Phillips, Eric Fombonne, Guy A Rouleau, Jacques L Michaud

Journal: Am. J. Hum. Genet.. 2010 Nov;87(5):671-8.

 

Heterozygous mutations in FOXP2, which encodes a forkhead transcription factor, have been shown to cause developmental verbal dyspraxia and language impairment. FOXP2 and its closest homolog, FOXP1, are coexpressed in brain regions that are important for language and cooperatively ...

Last Updated: 31 Dec 1969

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "FOXP1 intellectual disability" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.