Smith-Magenis Syndrome Case Study

In the journal of Focus On Autism And Other Developmental Disabilities, volume 21, number 3, fall 2006; I found an interesting case study: A Case Study of Early Development in Smith-Magenis Syndrome( pp. 130-137), written by Authors: Deborah J. Fidler; Amy D. Philofsky; and Susan L. Hepburn. This case study focuses on early development in a young child with Smith-Magenis Syndrome (SMS). Smith-Magenis Syndrome (SMS) is a multi-system, neurodevelopment-al genetic disorder associated with mental retardation that predisposes individuals to a distinct pattern of maladaptive behaviors, and other neuropsychological impairments. There has been very little in depth research on very young children recently diagnosed with this condition. Most research focuses on middle childhood, adolescents and young adulthood. This case study was conducted with the hopes of shedding some much needed light into the lives of very young children with SMS. Most times in order to try to improve a person's situation in life, one must start at the beginning to try, and modify the outcome.

Smith-Magenis Syndrome (SMS) was first recognized in 1982. It is a genetic disorder typically caused by a sporadic deletion of chromosome 17. This disorder is considered very rare in our general population, but not as rare with in the population of people with developmental disabilities. SMS has the occurrence rate of 1: 25,000 out of every live birth. It also seems to be evenly distributed among both males and females. There are several physical abnormalities associated with SMS; broadness of the head and hands, protruding forehead, epicanthal folds( which is typical in many peoples of eastern Asia and found as a congenital abnormality elsewhere), Vision abnormalities, a semi flattened mid face with a wide nasal bridge, underdeveloped cheek bones, a down turned mouth, prominent jaw, a hoarse voice (possibly because of problems with vocal folds) short in height, small toes inwardly bent fingers, and hypotonia( abnormally low muscle tone). These physical anomalies vary from each individual case, some might have one or two of these traits, some might have all of them, while other other might have none. About three quarters of people diagnosed with SMS show clinical signs of nerve damage to the extremities( arms, legs, fingers,and toes), including muscle weakness; which leads to walking difficulties, also they experience decreased sensitivity to temperature and pain. Early childhood physical difficulties might include: feeding problems, failure to thrive, and constant ear infections. In addition behavioral and developmental problems might also occur such as progressive hear loss, hyperactivity, impulsiveness, restlessness, temper outbursts as well as sleeping difficulties.

As an infant most parents would initially describe their child with SMS as an "easy baby" with an easy to deal with temperament. All that seems to change once the child hits toddler-hood. Another sad and alarming condition which is reported to be "near universal" is self injurious behavior also known as SIB. The self injurious behavior includes: wrist/hand biting which 93.1% of all participants in studies with people with SMS displayed, 55.2% reported head banging, 51.7% displayed skin picking, and 34.5% reported hair pulling. The triggers for SIB are usually a response to anger and frustration, and can be extreme and very dangerous since their lack of sensitivity to pain. Unfortunately these behaviors only seem to increase with age and time, not the latter. about half of people diagnosed with SMS display repetitive behavior which also get worse as they age; constant "self hugging" and lick and flip when turning pages of a book. Usually the "self hugging" appears when they are over-stimulated or are trying to display happiness.

Despite a notable amount of autistic like behavior, and many co diagnoses of both SMS and autism, children with SMS do not tend to show deficits in social and communication which is a classic symptom of autism. People with SMS show social awareness, respective eye contact, greeting, and like both social and physical interaction from others; this type of behavior is usually atypical for people diagnosed with autism. Even more so individuals with SMS display personality traits such as "loving", "caring", "funny"," seeking out attention from adults" and "eager to please".

IQ scores in individuals with SMS range widely from 78 which is in the category of mild retardation to 20 which is profound retardation. With most leaning towards mild retardation. SMS are usually cognitively stable or could slightly increase wit age and time Most cases of people with SMS show significant speech delays. They are much more significant then their motor skill delays. Receptive language skills are also stronger then their expressive language skills.

This brings us to Amanda( whose name has been changed ), she is a 34 month old girl who was recruited for participation in a larger research study. Her diagnosis was made at 26 months of age. She is the first born child of a couple who is separated. She lives at home with her mother and receives home and center based interventions. At birth Amanda weighed a healthy 8lbs.2oz. and was 19.5 inches. Unlike other infants born with SMS Amanda did not have any structural abnormalities. Though she was a generally healthy infant Amanda was diagnosed with a mild thyroid condition at 16 months and takes prescribed medication for it. Amanda's mother first had serious concerns at the age of 7 months when some major milestones were not yet reached. The doctors