Description, Causes and Risk Factors:
Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder caused by haploinsufficiency of the retinoic acid-induced 1 (RAI1) gene on chromosome 17p11.2, with a prevalence estimated at 1/25000. Patients with SMS have a distinctive somatic and behavioral phenotype that has been extensively studied.
All patients with SMS show sleep disorders with early sleep onset, difficulty in falling asleep, difficulty in staying asleep, frequent awakening, early waking, reduced rapid eye movement (REM) sleep, and decreased sleep time. These children go to bed early, have frequent arousals during the night, and wake up early in the morning. During the daytime they feel tired in the morning, have frequent naps, and then have heavy drowsiness in the evening.
SMS is associated with a specific pattern ofphysical, developmental, and behavioralfeatures, including:
Characteristic facial appearance.
Hearing and vision problems.
Self-injurious behaviors, particularlyhead-banging; skin and nail picking.
Diagnostic strategies include molecularidentification of a 17p11.2 microdeletion encompassing RAI1 or a mutation in RAI1. G-banding andfluorescent in situ hybridization (FISH) are the classical methods used to detect the SMS deletions, whilemultiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR are the newer,cost-effective, and high-throughput technologies.
Treatment for Smith-Magenis syndrome relies on managing its symptoms. Children with SMS often require several forms of support, including physical therapy, occupational therapy and speech therapy. Support is often required throughout an affected person's lifetime.
Medication is often used to address some symptoms. Melatonin supplements and trazodone are commonly used to regulate sleep disturbances. Other medications such as risperdal are sometimes used to regulate violent behavior.
Medication risks and benefits must be discussed with the consulting physician.
NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
A small study, conducted by the researchers from Washington University School of Medicine, suggests that a new MRI brain scan can be more efficient in determining the patient’s risk of developing Alzheimer’s disease than common clinical tests, long before the disease...
According to recent research, published in the journal Immunity, probiotics can be used safely and efficiently to fight osteoporosis, widely-known as osteoporosis. The researchers have used a mouse model to check the hypothesis. The mice received oral Lactobacillus...
Factors such as age, gender, physical activity, genetics, medical history, body type, and others directly affect not only the desire to lose weight, but also to follow the right diet. Everything is relative, everything is individual. Nevertheless, there are universal...read more
It is very entertaining to be a sport fan. There is a big variety of sport games that are extremely interesting to follow. Moreover, it is always fun to anticipate the score and watch the enthusiasm live. One of the benefits of being sports fan is using different...read more
A new study of nearly 18,000 participants found that those with high fitness at middle age were significantly less likely to die from heart disease in later life, even if they were diagnosed with depression. Doctor's Tips: How to Stay Fit While Treating Depression Dr....read more