Smith Magenis Syndrome – Symptoms, Causes, Treatment, Pictures
Smith Magenis syndrome is a disorder that affects the developmental process and causes abnormalities of several areas of the body. Some of the prominent characteristics of the disorder include delayed development of language skills and speech, sleep anomalies, intellectual deficits ranging from mild to moderate, unique facial features and behavioral abnormalities.
The rate of incidence for Smith Magenis syndrome is about 1 in every 25,000 persons across the world. It is believed by most researchers that a number of people affected by the disorder have not been diagnosed, and hence the occurrence rate could be higher. This would mean that the correct prevalence of Smith Magenis syndrome may be around 1 in every 15,000 persons worldwide. It is important that a person affected by Smith Magenis syndrome is evaluated as early as possible so that the patient can avail of the best possible medical care and treatments.
The disorder was discovered and classified by the two doctors Smith and Magenis in the year 1986. Since then, there has been plenty of progress in the diagnosis of the condition as well as the treatment methods.
Symptoms of Smith Magenis Syndrome
Some of the major signs and symptoms of Smith Magenis syndrome are discussed below:
- Individuals affected by Smith Magenis syndrome are usually affected by disturbed patterns of sleep, which typically commence during the early years of life.
- The affected people may find it difficult to fall asleep during the night and may be prone to awaken every night. However, they tend to be extremely sleepy during the day time.
- A majority of the individuals affected by Smith Magenis syndrome possess a square-shaped, broad face with a distinct lower jaw, filled cheeks and deep-set eyes.
- The mouth has a tendency to slope downwards, and the upper lip is full and curves upwards.
- Often, the nasal bridge and the middle part of the face may appear flattened.
- The above mentioned facial characteristics may not be very obvious in early childhood. However, they may become more prominent during the later years of childhood and adulthood.
Behaviors and Personality
- Individuals with Smith Magenis syndrome generally tend to have appealing and loving personalities.
- One behavioral trait that is quite characteristic of Smith Magenis syndrome is repetitive hugging of the self.
- Certain forms of self-injury such as hitting, biting, picking the skin and banging the head are quite common.
- Individuals affected by the disorder also have a compulsion to lick the fingers and then flip the pages of magazines and books
- They are prone to behavioral problems which may include increased aggression, impulsiveness, regular outburst and temper tantrums, difficulties in concentration and paying attention, and excessive anxiety.
- Some other signs of Smith Magenis syndrome which are not so common are as follows:
- Scoliosis or irregularities in the curvature of the spine
- Stunted or short stature
- Decreased sensitivity to temperature and pain
- Increased hoarseness of the voice
- Presence of eye problems which may result in myopia or nearsightedness and other vision abnormalities
- A few persons may have anomalies of the ear which can result in loss of hearing
- Kidney and cardiac defects have also been reported in a few people affected by Smith Magenis syndrome
Causes of Smith Magenis Syndrome
There is loss genetic data from a particular area of chromosome 17 in most individuals affected by Smith Magenis syndrome. This particular area has many genes, but as per studies the deletion of a specific gene called RAI1, in each cell is what causes the distinctive features associated with the disorder.
The deletion of other genes in that particular area can also contribute to the explanation of varying symptoms in people affected by Smith Magenis syndrome
A small section of Smith Magenis syndrome patients may exhibit mutation of the RAI1 gene, in place of a chromosomal loss. Such individuals may elicit many of the symptoms, but are less likely to feature loss of hearing, kidney or cardiac irregularities and short stature as compared to those with a chromosomal deletion.
Most cases of Smith Magenis syndrome are not inherited and usually affected individuals have no family history of the condition. The disorder generally tends to occur due to mutations that happen during conception or during formation of the eggs or the sperms.
Treatment of Smith Magenis Syndrome
The aim of the treatment for Smith Magenis syndrome is to effectively manage all the symptoms and alleviate their effects on the affected person.
Children who are affected by the condition generally need many types of support, which include occupational therapy, physical therapy and speech therapy. In most cases, the support is required for the complete lifetime of an affected individual.
Medications may be used to control and regulate various symptoms such as behavioral abnormalities, sleep disturbances and other anomalies.
The prognosis and outcome of Smith Magenis syndrome fully depends on early diagnosis, prompt treatment and adequate support given to the affected person. A patient of Smith Magenis syndrome can live his complete life if he/she is given proper care and support as and when needed.