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

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Presentation transcript:

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

Outline Our experience with SMS What is SMS?

Our experience with SMS Chloe:

What is SMS?

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

Unequal crossing over

SMS Deletions RAI1

Clinical Manifestations of SMS

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

Melatonin secretion in SMS

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

What is the solution?