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.
MYH10