The SpecialMoms Parenting Magazine 4th Issue | Page 27

I had picked up several copies at the PRISMS International SMS Conference. We gave Robyn’s
mom one at the autism meeting when she mentioned Zan’s prolonged tantrums and his sleeping problems. Our son had been diagnosed with
Smith-Magenis syndrome (or SMS) five years earlier. Robyn will forever remember that night. “I
stood in my kitchen reading a piece of paper that
described every symptom I had witnessed over the
previous thirteen years. Zan walked by and said,
‘Hey, that’s me!’ and pointed to a photograph of
a boy who could have been Zan’s twin. And all I
could do was cry.”

genetic counselor, and Ellen Magenis, M.D., a
pediatrician and cytogeneticist, first described the
syndrome in the early 1980’s. SMS is caused by a
deletion of several genes within the 17th chromosome, referred to as deletion 17p11.2. In recent
years and with better technology, the diagnosis has
grown to include the mutation or deletion of a single gene known as RAI1, discovered by Sarah Elsea, Ph.D. Although the actual number of missing
genes varies between affected individuals, there is a
specific pattern of common characteristics, including the facial traits that Zan was able to recognize.

Ann C.M. Smith, M.A., D.Sc. (Hon), a certified

“I’m not surprised that Robyn had problems with
Zan napping at school because sleep disturbance

Autisic-Like
Characteristics in
Smith-Magenis Syndrome

Common Physical
Features of
Smith-Magenis Syndrome

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fixation on certain objects or events
sensitivity to certain sounds or textures
repetative behaviors
need for routine/structure
excellent long term memory
hand squeezing
arm flapping
explosive and/or aggressive outbursts

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Common Developmental
Issues in
Smith-Magenis Syndrome
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Common Behavior
Traits in
Smith-Magenis Syndrome

feeding/swallowing problems
diminished crying/vocalizations
speech delay
hearing impairment
strabismus, near sightedness
low muscle tone
developmental delay
intellectual disability
chronic sleep disturbance

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flattened mid-face
downturned mouth
rosey cheeks
middle ear dysfunction (ear infections)
small hands/feet
shorter stature
scoliosis
hoarse voice
hypernasal sp