Iconic Symptoms Of Smith-Magenis Syndrome
Smith-Magenis syndrome is a disorder that affects the development of an individual in numerous different ways. This condition is the result of a genetic deletion that occurs on chromosome 17 in every cell in the body. Most of the features that manifest in Smith-Magenis syndrome can be attributed to the absence of the RAI1 gene on chromosome 17. A small percentage of cases are due to inherited gene deletion or mutation from one parent, while the remainder of cases results from a spontaneous genetic deletion or mutation in utero. Medical history, physical examination, and cytogenetic testing of the blood for gene deletions and mutations are utilized to diagnose Smith-Magenis syndrome. Treatment of this disorder is a collaborative effort with a team of different types of physicians and professionals to manage symptoms and prevent complications.
A handful of symptoms can indicate Smith-Magenis syndrome. Get familiar with them now.
Distinctive Facial Features
Multiple distinctive facial features can manifest in Smith-Magenis syndrome. An individual affected by this syndrome may have a broad and square-shaped face, and cheeks that appear to be full or even puffy. A patient's eyes are often deep-set in the facial bones, and the lower jaw is more prominent than in unaffected individuals. An individual who has Smith-Magenis syndrome may present with a nose bridge and central facial region with an abnormally flattened appearance. The patient may have a full or plump upper lip that also curves in an outward direction, though their mouth as a whole may have a natural downward turn to it. The facial features of Smith-Magenis syndrome patients are sometimes not apparent enough to distinguish during early and late childhood, but they become more prominent as the individual grows older.
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Issues With Sleep
An individual with Smith-Magenis syndrome may experience issues with their sleep. The prevalence of disturbances of natural sleep in Smith-Magenis syndrome patients is approximately eighty percent. An affected individual can experience challenges when trying to settle down to rest or lay down in bed at nighttime. It is also very common for an individual with this syndrome to wake up multiple times in the middle of the night. Despite the problems with getting a good night's sleep, individuals with Smith-Magenis syndrome tend to wake up earlier in the morning than others. Challenges that occur with sleep and sleep patterns tend to have an onset in an affected individual's childhood and may go through several changes as they reach adulthood. Because of the problems Smith-Magenis syndrome patients face with being able to get a good night's sleep, they present with fatigue during and throughout their day. Some patients will take several naps during the day to compensate for the sleep they lose at night.
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Delayed Speech And Language Skills
Over three-fourths of all individuals diagnosed with Smith-Magenis syndrome will experience some form of difficulty with speech and language, including delays. During the first year of life, an affected individual typically experiences problems with feeding and swallowing, which can be attributed to the malfunction of the oral motor mechanisms. Affected individuals have poor sucking abilities that make it a challenge to move from liquid food to other soft food textures. A Smith-Magenis syndrome patient can be very delayed in the development of expressive speech skills, and the verbal sounds or speech they do produce is not intelligible. Most patients do not begin to develop sufficient verbal speech skills until the early years of school age. The use of an alternate system to communicate like a picture system, sign language, or gestures can help bridge communication development with the formation of actual speech skills. This method helps reduce the frustration that often becomes a challenge in affected individuals and their loved ones.
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Repeated Self-Hugging
A Smith-Magenis syndrome patient may exhibit the abnormal behavior of repeated self-hugging. The repeated self hugging behavior is described as a tic an affected individual may struggle to control or is involuntary. This tic of the individual's upper body occurs in response to feelings of overstimulation, overwhelming happiness, or excitement. It is not uncommon for Smith-Magenis syndrome patients to produce facial grimaces as they exhibit this repetitive self hugging behavior. Self-hugging describes when an individual clasps both of their hands together tightly and pulls their arms to their sides, or when they tightly cross both of their arms across the chest and squeeze their upper body. Because this behavioral abnormality is one that occurs in response to happiness or pleasure in an individual with Smith-Magenis syndrome, it is considered to be one of the more benign symptoms.
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Frequent Temper Tantrums And Aggression
Behavioral abnormalities, such as frequent temper tantrums and aggression, may manifest in Smith-Magenis syndrome patients. It is thought the temper tantrums and aggression are reactions to situations where patients feel they are not receiving enough attention from a particular person or group. Children exhibit these behaviors more often than adults with Smith-Magenis syndrome, and the aggression is often directed toward their caregiver or another adult with whom they have a close connection. Aggressive behaviors commonly seen in affected individuals include many forms of self-injury that are repetitive, like hitting, picking the skin, banging the head, grinding of the teeth, insertion of hands or objects in the mouth, and biting. Abnormal impulsiveness, anger or frustration outbursts, excessive anxiety, and problems with focus and concentration are other behavioral problems that frequently manifest in Smith-Magenis syndrome patients.