1. What is Smith Magenis Syndrome (SMS)? Chris Blanchard School of Biomedical Sciences Charles Sturt University

2. Outline Our experience with SMS What is SMS?

3. Our experience with SMS Chloe:

4. What is SMS?

5. Smith Magenis Syndrome Micro deletion in chromosome 17 Occurrence: 1/16,000 - 1/25,000 Can be caused by unequal crossing- over during meiosis

6. Unequal crossing over

7. SMS Deletions RAI1

8. Clinical Manifestations of SMS

9. Melatonin production is limited to night time in all species Biological maker of the circadian clock Melatonin

10. Melatonin secretion in SMS

11. ‘The Perfect Storm’ TANTRUMS (-) BEHAVIOR Daytime Melatonin Sleep Debt School & Family Expectations (Anxiety) Sensory issues

12. What is the solution?