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: 1/16,000

- 1/25,000• Can be caused by

unequal crossing-over during meiosis

Unequal crossing over

SMS Deletions

RAI1

Clinical Manifestations of SMS

Craniofacial/ Skeletal

Otolaryngologic Neurological/ Behavioural

Ocular Other

Brachycephaly Midface hypoplasia Prognathism Tented upper lip Broad, square face Synophyrys Brachydactyly Short stature Scoliosis

Chronic ear infections Hearing loss Hoarse, deep voice

Var iable mental retardation Speech delay Motor delay Hypotonia Seizures Sleep disturbance Self-hugging Attention seeking Self-injurious behaviours - Onychotillomania - Polyembolokoilamania - Head-banging

Myopia Strabismus

Cardiovascular anomalies Renal/urinary tract abnormality Dental anomalies Hypercholesterolemia

•Melatonin production is limited to night time in all species

•Biological maker of the circadian clock

Melatonin

6 PM 00:00 6 AM 12:00 6 PM 00:00 6 AM 12:00

0

50

100

150

SMS

controls

DayNight DayNight

Clock Time

Melatonin secretion in SMS

‘The Perfect Storm’

TANTRUMS(-) BEHAVIOR

Daytime Melatonin

SleepDebt

School & FamilyExpectations (Anxiety)

Sensory issues

What is the solution?