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.