The SpecialMoms Parenting Magazine 4th Issue | Page 28

is a major part of the syndrome,” Ann Smith explains the reason. “Sleep disturbance is virtually
universal in the syndrome and remains a chronic and lifelong problem. Frequently recognized at
12-18 months of age, the sleep cycle is characterized by diminished sleep at night due to frequent
nighttime arousals (>15minutes), and early sleep
offset (“larks”/early risers 5:30-6:30 am) that leads
to chronic sleep debt with excessive daytime sleepiness and urge to ‘nap’. Although sleep disorders
are seen in children with other neurological disorders, in SMS the sleep disorder is associated with
an unusual inverted circadian rhythm of melatonin; thus, persons with SMS have a biologically
based circadian sleep disorder. The chronic sleep
deprivation only serves to intensify the intrinsic
behavior problems, impacting daytime behaviors
as the child struggles to stay awake ‘fight the urge
to sleep’ ”.

ability of newer molecular cytogenetic techniques
(chromosomal microarray; CMA) promotes early
and correct diagnosis.” If a parent suspects their
child may have SMS, Ann Smith recommends that
they seek genetic evaluation with testing and genetic counseling.
“Receiving Zan’s SMS diagnosis when he was 13
years old was relief for me,” Robyn shared, “because
I finally knew his struggles were not my fault.”To
learn more about SMS and how you can help raise
awareness, visit www.prisms.org. §

Tina McGrevy is a National Guard wife who
blogs about her adventures with three sons and
the unexpected joys of Smith-Magenis Syndrome
(SMS) at http://www.tinamcgrevy.blogspot.com
....um, yes. They are tears of joy. Really.

November 17th has been designated “Smith-Magenis Syndrome Awareness Day” because the
17th chromosome is affected. Although improvements in testing have increased the number
of SMS diagnoses, it is still considered rare with an
estimated incidence of 1/15,000 to 1/25,000 live
births. Ann Smith, currently the lead researcher
for the natural history study of SMS at the National Institutes of Health, has witnessed many changes
in the genetic field since she and Dr. Magenis discovered SMS. “Delayed or missed diagnosis was
common in the past; however, increased clinical
awareness of the syndrome coupled with the avail-

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