Vinnie Bubs

WHAT IS SMITH MAGENIS SYNDROME?

For the benefit of friends and family who have a person with SMS in their lives I have put together a brief summary. Please note that the summary is only my understanding of SMS ....

For medical and scientific information please refer to the links to various websites, academic articles and fact sheets set out below.

SMS

Smith Magenis Syndrome (SMS) is a specific pattern of physical, behavioural, and developmental features in a person. A person with SMS may have many or few of the features and the severity of these features may vary between individuals.

Typical Features

Typical SMS features include:

*endearing and engaging personalities
*characteristic facial appearance (i.e cupid’s lips, round cheeks)
*intellectual disabilities/challenges
*development delay (i.e. low tone, late walkers and talkers)
*ear and hearing problems
*vision problems
*sleep disturbances and early morning risers
*speech difficulties
*attention-seeking behaviour
*self-injurious behaviour (i.e. head-banging,biting, skin and nail picking)
*behavioural problems including frequent and prolonged tantrums

So friends and family you can see that SMS parents and caregivers have their work cut out for them; many are suffering from ongoing sleep deprivation and dealing with behavioural problems on a regular basis.

We love our children and they make us smile. But it can be very challenging to be a parent/caregiver of a child or adult with SMS, while also dealing with all the emotions that go along with having a special needs child and facing the prejudices that exist in society.

Less common features

*heart defects and murmurs
*urinary (kidney) system problems
*scoliosis (curvature of the spine)

Why SMS occurs

SMS affects approximately 1 in 25,000 individuals. Most people with SMS have a deletion of genetic material from chromosome 17 and a smaller percentage of people with SMS have a mutation in the RAI1 gene.