Table 2.
Clinical Specialty | Recommendations |
---|---|
Genetics | Appropriate genetic testing and counseling at time of diagnosis. Annual follow up. |
Development/Behaviors | Referral to early intervention services for PT, OT, ST. School—aged children should be evaluated for an IEP. Behavioral therapy to assist with disruptive behaviors (if applicable). |
Neurology | Monitor for seizures. Refer to neurology for seizure management (as needed). |
Endocrinology | Assess sleep. Maintain good sleep hygiene. Polysomnography or actigraphy if concern for nocturnal seizures or sleep-related breathing problems. |
Feeding/diet | Referral to feeding therapy (if oral motor dysfunction present). Enteral nutrition (as needed). Treat gastroesophageal reflux (as needed). Treat constipation (as needed). Schedule mealtimes. Control access to food (as needed). Maintain well-balanced diet. Vitamin D supplement for individuals at high risk for osteopenia. |
Musculoskeletal | Screen for hip dysplasia. Annual screen for scoliosis. Bone density scan every 2 years for individuals at high risk for osteopenia. |
Ophthalmology | Examination in infancy if strabismus is present. Annual Examinations beginning at 1 to 2 years of age. |