At the time of diagnosis, a complete system review with physical and neurological examinations is recommended. Assessments should include growth, feeding, and food intake, with special attention to failure to thrive early in life and risk for obesity starting in childhood. Ophthalmological and otorhinolaryngological evaluation, with routine audiological surveillance throughout life are also recommended. An immunological follow-up is suggested due to a greater susceptibility to ear and lung infections. Abdominal ultrasound and cardiac echo are advised to rule out structural abnormalities at time of diagnosis. Routine screenings for scoliosis and skin findings are also recommended. Sleep histories with attention to sleep/wake schedules, respiratory function, and medication use will help with sleep and behavior management and will aid in reducing parental stress. Sleep diaries can be useful for documenting sleep/wake times.
Throughout patients' lives, multidisciplinary assessments are indicated to guide individualized ongoing special education plans, therapeutic interventions, and transition into adulthood. Referrals for therapies including speech/language, physical, occupational, and sensory integrations may be indicated. For individuals with 17p11.2 deletion, after age 22, screening for features of Birt-Hogg-Dube syndrome are recommended due to deletion of the FLCNgene, which includes abdominal and lung imaging and skin evaluation.