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<\/p>\nWhen a psychiatrist diagnosed Robyn Fell\u2019s toddler on the Autism spectrum, she was in shock.\u00a0\u00a0 \u201cIt\u2019s not that I was in denial,\u201d she explained, \u201cmy son, Zan, did have many unusual behaviors.\u201d\u00a0\u00a0 A personality that included an insatiable obsession with certain toys, an inability to accept changes in routines and a gift for remembering names and events long after they occurred.<\/p>\n
\u201cBut I have known individuals with autism,\u201d Robyn continued, \u201cand Zan seemed to be almost opposite in other ways.\u201d\u00a0 The most noticeable difference was Zan\u2019s eagerness to please people, especially adults and more specifically, his mom and teacher.\u00a0 \u201cHis early school years were the hardest.\u00a0 Although we used picture schedules and social stories, most educators could not manage his need for undivided attention, not to mention his constant napping throughout the school day.\u201d\u00a0 In fact, Zan changed schools five times in the first seven years of his education.<\/p>\n
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But, by far, the most difficult struggle was Zan\u2019s inability to sleep all night. Robyn put a toddler bed next to hers.\u00a0 \u201cI was so afraid I would not hear him get up and that he would hurt himself while I was asleep.\u201d<\/p>\n
More than one pediatrician brushed Robyn\u2019s concerns off as an over protective mother.\u00a0 But Robyn did find solace with other autistic families and joined a newly formed support group in her town.\u00a0\u00a0 \u201cOne month I could not attend, so my mom went to the meeting.\u00a0 She showed up at my door that night with a pamphlet.\u201d<\/p>\n
The pamphlet, \u201cUnderstanding Smith-Magenis Syndrome,\u201d was created by the support organization PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome). \u00a0Another family had given Robyn\u2019s mom a copy when she mentioned Zan\u2019s prolonged tantrums and his sleeping problems.<\/p>\n
Robyn will forever remember that night.\u00a0 \u201cI stood in my kitchen reading a piece of paper that described every symptom I had witnessed over the previous thirteen years.\u00a0 Zan walked by and said, \u2018Hey, that\u2019s me!\u2019 and pointed to a photograph of a boy who could have been Zan\u2019s twin. And all I could do was cry.\u201d<\/p>\n
Ann C.M. Smith, M.A., D.Sc. (Hon), a certified genetic counselor, and Ellen Magenis, M.D., a pediatrician and cytogeneticist, first described the syndrome in the early 1980\u2019s.\u00a0 SMS is caused by a deletion of several genes within the 17th<\/sup> chromosome, referred to as deletion 17p11.2.\u00a0 In recent years and with better technology, the diagnosis has grown to include the mutation or deletion of a single gene known as RAI1<\/em>, discovered by Sarah Elsea, Ph.D.\u00a0 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.<\/p>\n \u201cI\u2019m not surprised that Robyn had problems with Zan napping at school because sleep disturbance is a major part of the syndrome,\u201d Ann Smith explains the reason.\u00a0 \u201cAlthough 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.\u00a0 The chronic sleep deprivation only serves to intensify the intrinsic behavior problems, impacting daytime behaviors as the child struggles to stay awake, and \u2018fights the urge to sleep\u2019 \u201d.<\/p>\n
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<\/a>If a parent suspects their child may have SMS, Ann Smith recommends that they seek genetic evaluation with testing and genetic counseling.<\/p>\n