Management

Neurodevelopmental disorders: Close monitoring of developmental progress. Targeted developmental interventions when appropriate. ABA therapy for autism spectrum disorder.

Neurologic:Consider brain MRI for neurologic symptoms. Monitor for signs of seizure activity.

Cardiac:Initial screening echocardiogram at diagnosis. Refer to cardiology for any abnormal findings.

Ocular:Baseline exam with ophthalmologist to assess for ocular anomalies and continue to follow with annual eye exams for refractive errors.

GI:Some individuals may need help with feeding in early life. Consider enteral tube feeds for growth failure.

MSK:Hip ultrasound at diagnosis (infancy). Annual monitoring for scoliosis.

GU:Renal ultrasound at diagnosis. Consider additional studies for recurrent urinary tract infections. Referral to urology for any genital abnormalities.

Respiratory:Refer to pulmonology for any breathing concerns.