Table 4 Recommendations for medical assessments in FOXP1 syndrome

Clinical genetics

Autism spectrum disorder (ASD), intellectual disability (ID), or developmental delay

For affected individuals, chromosomal microarray to identify 3p14 microdeletions; whole exome, whole genome sequencing, or next-generation sequencing panels for ASD and ID

For parents, chromosome analysis and fluorescence in situ hybridization to identify rearrangements

Prominent forehead

Dysmorphology exam and specialty referrals

Frontal hair upsweep

Down slanting palpebral fissures

Ptosis

Single palmar crease

Clinodactyly

Psychiatry and psychology

Autism spectrum disorder

Gold-standard diagnostic testing

Intellectual disability

Cognitive and adaptive behavior testing

Delayed speech, articulation problems

Speech and language evaluation and therapy

Maladaptive behaviors

Psychiatric evaluation, medication management

Neurology

Seizures

Electroencephalography

Structural brain abnormalities

Brain imaging and head circumference monitoring

Feeding difficulties

Feeding therapy evaluation

Hypotonia

Occupational and physical therapy evaluations

Motor skill deficits

Physical therapy

Endocrinology

Short stature and obesity

Monitor height, weight, body mass index, and pubertal development

Cardiology

Mild congenital heart defects

Referral to cardiology for echocardiography and electrocardiography

Nephrology

Mild genitourinary malformations

If urinary tract infection or voiding dysfunction, renal ultrasound

Otolaryngology

Recurring ear infections and hearing problems

Hearing test and consider ear tube placement

Ophthalmology

Vision problems

Eye exam

Primary care/pediatrics

Upper respiratory tract infections, gastroesophageal reflux, and constipation

Careful and consistent monitoring and management

Dentistry

High arched palate and malocclusion

Routine dental exams