Smith Magenis Syndrome (SMS) is a genetic disorder affecting the entire body like the brain. Attributes include intellectual handicap, facial features like a wide face, difficulty sleeping, and many behavioral issues like self-harm. Smith–Magenis syndrome affects an estimated between 1 in 15,000 to 1 in 25,000 people.
It’s a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is occasionally known as the 17p- syndrome.
Symptoms of Smith Magenis Syndrome
Facial features of children with Smith–Magenis syndrome comprise a wide face, deep-set eyes, big lips, along with a chin that is notable, in addition to a flat nose bridge. The mouth bends downwards and the top lip curves outwards. These decorative features become more noticeable as the person ages.
Disrupted sleep patterns are characteristic of Smith–Magenis syndrome, usually starting early in life. Overweight people may be very tired during the daytime, but have difficulty falling asleep and wake several times daily, because of an inverted circadian rhythm of melatonin.
Individuals with Smith–Magenis syndrome have engaging personalities, but all also have a great deal of behavioral issues. These behavioral issues include regular temper tantrums, meltdowns and outbursts, aggression, anger, fidgeting, compulsive behaviour, stress, impulsiveness, and trouble paying attention. Self-harm, such as biting, hitting, head banging, and skin picking, is quite common. Repetitive self-hugging is a behavioral characteristic which could be unique to Smith–Magenis syndrome. Individuals with this illness could also compulsively lick their hands and flip pages of magazines and books (a behaviour known as “lick and reverse”), in addition to owning an amazing ability to remember a vast assortment of little specifics about individuals or subject-specific trivia.
Other symptoms may include short stature, abnormal curvature of the spine (scoliosis), decreased sensitivity to pain and fever, and a hoarse voice. Some individuals with this disease have ear abnormalities that result in hearing loss. Affected people may have eye problems which cause nearsightedness (myopia), strabismus, along with other issues with eyesight. Heart and kidney defects have also been reported in individuals with Smith–Magenis syndrome, even though they are not as common.
Treatment of Smith Magenis Syndrome
Treatment for Smith–Magenis syndrome relies on managing its symptoms. Kids with SMS frequently need a number of types of aid, such as physical treatment, occupational therapy and d speech therapy. Support is frequently required during an affected individual’s life.
Medication is often utilised to tackle some indicators. Melatonin nutritional supplements and trazodone are generally utilized to modulate sleep disturbances. In conjunction with exogenous melatonin, blockade of nitric oxide production throughout the daytime from the adrenergic antagonist acebutolol can boost endurance, enhance sleep and sleep time and also aid in addition to behavior. Other medications (like risperdal) are occasionally utilized to regulate violent behaviour.
