Persons with changes in the FOXP1 gene have developmental problems. Mostly, speech and language delay is more prominent than motor delay. Autistic features, including repetitive behavior are frequent, but most persons with changes in the FOXP1 gene do not meet all the criteria for an official diagnosis of autism. Attentional problems and impulsiveness are frequently observed and seem to decrease with advancing age. Although at slower pace, persons with changes in the FOXP1 gene gradually gain new skills. Although few adults with changes in the FOXP1 gene are known, some manage to get a job and/or live relatively independent.
Children may be floppy in infancy, whereas other children may have a high muscle tone (spasticity). About one in five children has seizures and structural brain abnormalities are present in half of the children. Also, feeding problems and slow weight gain may occur.
In some cases, congenital abnormalities of the urogenital tract, brain or heart are present. Therefore, screening of these organs is suggested. Since some children have vision or hearing problems, ophthalmological and hearing screening are suggested.
Mostly, persons with changes in the FOXP1 gene look a bit different than family members with a higher forehead and fuller lips.
Support is mainly focused on the assessment and stimulation of development and the screening and treatment of manifestations. Development should be assessed with a focus on feeding, speech and language problems and autistic features. At young age, consultation of oromotor specialist and dietician in case of feeding problems may be indicated. Physiotherapist can help managing the consequences of the muscle tone problems.