For SMS, a complete systems review is recommended. Assessment of growth parameters, lipid panel, growth hormone, and thyroid hormone should be performed, with special attention to risk for obesity, and plans for long term management toward obesity prevention. Vision, hearing, and ENT (Ear, nose throat) evaluations are also recommended, with routine hearing and vision surveillance throughout life. An immunological follow-up is recommended if frequent ear or other infections occur. At the time of diagnosis, evaluations should also include an echocardiogram to evaluate for heart problems and an ultrasound examination for possible kidney/urinary problems. At age 20, renal ultrasounds and skin assessments are recommended for those with 17p11.2 deletion that also includes the FLCNgene, associated with Birt-Hogg-Dube syndrome. A sleep diary to keep track of sleep history with attention to sleep/wake schedules and breathing function are suggested and will aid in identifying the best treatment options to improve sleep.
Multi-viewpoint assessments are recommended 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.
Follow recommended guidelines: https://www.ncbi.nlm.nih.gov/books/NBK1310/
Smith-Magenis syndrome support groups:
• https://www.prisms.org/
• https://smith-magenis.org