Smith-Magenis Syndrome -Taylor Bug Kisses Foundation

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Medical Management of Smith-Magenis Syndrome

Medical management for Smith-Magenis Syndrome at this point consists of medical appointments to track medical complications that can arise from Smith-Magenis Syndrome, early intervention programs, behavior modification programs, medication and symptom management.

Recommended Evaluations:

Complete overview of medical systems including cardiac, immune, endocrine, gastrointestinal, neurological, physical, optical, audiology, speech.

Specific Tests Recommended:
  • Renal (kidney) ultrasound to check for abnormalities.
  • VCUG (Voiding Cystourethrogram) to check for renal reflux.
  • Echocardiogram.
  • Neurological workup (generally includes EEG to check for seizures, MRI of brain and sleep apnea study).
  • X-ray of spine (to check for scoliosis and other anomalies).
  • Audiology testing (to check for hearing impairment).
  • Comprehensive speech evaluation (feeding, speech and swallow study).
  • Physical therapy evaluation. And occupational therapy evaluation.
  • Endocrine (check for low growth hormone, bone age, and immune system).
  • Comprehensive workup with Gastroenterologist (check for calorie intake, gastro esophageal reflux, celiac disease, stool sample, urine sample and blood tests if necessary).
  • Dental Evaluation.
  • Comprehensive optical evaluation (specifically for strabismus, small cornea, iris abnormalities and myopia).
  • Comprehensive Otolaryngologic (ear, nose, throat and velopharyngeal insufficiency).
  • Psychological Evaluation.
  • Neurodevelopment Evaluation (comprehensive evaluation of all brain systems including neuromotor, perception, learning, attention, language, motor planning and cognition in order to determine the appropriate types and frequency of therapeutic interventions).
Recommended Evaluations on an annual basis:
  • Monitor for Scoliosis.
  • Audiology evaluation.
  • Ophthalmologic evaluation.
  • Otolaryngology evaluation.
  • Neurodevelopment evaluation.
  • Thyroid function.
  • Urinalysis (Urological work up if history of Urinary Tract Infection).
  • Blood chemistries~specifically lipid profile. (Hypercholesterolemia/Hypertriglyceridemia if necessary).
  • Dental Evaluations.
  • Physical (and regular immunizations for children).
  • Individual Education Plan if necessary.
  • Neurologic Evaluation (this is not always necessary on an annual basis but would be recommended to have done every couple of years for monitoring).
  • Cardiologic evaluation (this too may not always be necessary annually. But would be recommended to have done every couple of years).
Treatment recommendations:
  • Early intervention/therapies as recommended (i.e. physical therapy, occupational therapy, speech therapy, sign language, early intervention (school) classes).
  • Sensory Integration.
  • Special Education classes (if warranted).
  • Some may benefit from recreational therapies (i.e. aquatic therapy, horseback riding, music therapy, pet therapy, sports).
  • Psychotropic Medications can be used to decrease hyperactivity and or increase attention.
  • Medications can be used to help treat sleep disturbances (though there is no proven result or guaranteed combination of drugs that will work for everyone).  Some individuals have success with the use of Melatonin.
  • If Melatonin alone does not help, some individuals take a beta blocker in the morning in conjunction with Melatonin at night. The idea is that the beta blocker will help block the peak of Melatonin from occurring in the afternoon.
  • Behavior Modification therapy.

Review of SMS

For general overview of Smith-Magenis Syndrome, click here.

For a medical  journal article of a SMS review that you can print, click the download below.  This is a great resource to print out and give to your medical specialists to help them understand SMS better:

Download SMS Review by Dr. Sarah H. Elsea and Santhosh Girirajan here.

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Information on this site is intended for a general overview and for educational purposes. Information on this site is not intended to nor does it, constitute medical or other advice. Always consult with a physician before acting on any information you have read. Medical treatment for each individual should be in accordance to and followed by the patient's physician.