A developmental disorder that is caused by a chromosome deletion is called Smith-Magenis syndrome. It negatively affects children’s ability to fall and stay asleep, behavior, and ability to learn. Unfortunately, there is no way to cure this syndrome, but treatment may lessen the symptoms and improve your child’s quality of life.
The most common symptoms of this disorder are abnormal cognitive development (also known as intellectual disability), specific facial features, behavioral problems, and sleep disturbances. The gene deletion that causes this syndrome often occurs during pregnancy.
In general, this is a rare health condition that affects 1 out of every 15,000 to 25,000 newborns worldwide.
Symptoms
Usually, this condition negatively affects multiple organs in the body, but the symptoms can range from mild to severe. Check below some examples:
- Short stature
- Reduced sensation of temperature or pain
- Vision or hearing problems
- Raspy voice
- Excessive body weight (obesity)
- Scoliosis
- Intellectual disability
However, infants may also experience other symptoms. Examples include:
- Developmental delays
- Poor reflexes
- Feeding problems
- Frequent crying
- Long naps and excessive drowsiness during the day
- Weak muscle tone
In rare cases, this syndrome may negatively affect the child’s heart and kidneys or cause seizures. However, if you notice any of the previous symptoms, immediately contact your healthcare professional.
Facial Features
In most cases, those who are born with Smith-Magenis syndrome have different facial features. For example, full cheeks, sunken eyes, flat nasal bridge, square-shaped face, and others. In addition, some children with this disorder may also develop dental problems.
Insomnia
This syndrome causes sleep problems for infants, children, and adults. These include difficulty falling and staying asleep, nighttime awakenings, and excessive sleepiness during the day. Generally, sleep patterns are different among people with Smith-Magenis syndrome because they depend on Melatonin secretion, which is different in individuals.
Behavioral or Emotional Problems
Commonly, emotional and behavioral problems are present in people with this syndrome. These include:
- Self-hugging
- Affectionate personality
- Regular outbursts and tantrums
- Aggression
While it rarely occurs, some of them may also have ADHD and autism spectrum disorder.
Causes
The primary cause of this syndrome is changes to the retinoic acid-induced 1 gene (RAI1). In normal circumstances, this gene is involved in the production of some proteins that give the cells instructions to work throughout the body. While RAI1 is not fully understood, some research suggests that this gene produces proteins for multiple parts of the body, which explains why the symptoms of this syndrome are so broad.
Usually, a deletion of the chromosome (a part containing the RAI1 gene) or a mutation of this gene causes Smith-Magenis syndrome. Roughly 90% of people who are diagnosed with this condition are missing the RAI1 gene (a part of the short arm of chromosome 17).
This condition may occur in two ways: spontaneously (it occurs randomly when the egg and sperm meet at conception) and through germline mosaicism (in such cases, there is a family history of the disease or one of the biological parents carries the abnormal gene in some of their sex cells but does not have any symptoms).
What Are The Potential Complications of Smith-Magenis Syndrome?
Those who develop this rare syndrome may also experience some complications, especially if they do not get treatment. Check below some examples:
- Hypotonia
- Peripheral neuropathy
- Gastrointestinal problems
- Seizures
- Heart and kidney conditions
- Vision or hearing problems (including myopia, hearing loss, and others)
- Scoliosis
- Mental disorders (such as anxiety, depression, and others)
- Epilepsy
- Obesity
This article does not contain a full list of Smith-Magenis syndrome complications. However, you can consult with your doctor about ways to reduce the risk of previous complications.
How to Prevent Smith-Magenis Syndrome?
Unfortunately, this condition cannot be prevented because it is genetic. The DNA changes (mutations) that cause this syndrome often occur randomly and unpredictably.
Diagnosis
Usually, this condition is diagnosed during childhood when the symptoms are more apparent. However, doctors may ask some questions about the family history and their symptoms to get more clues about the disease. To confirm this condition, physicians often perform a genetic test to check for the abnormal gene.
Treatment
Usually, treatment of this condition involves multiple healthcare professionals. These include pediatricians, surgeons, ophthalmologists, audiologists, psychologists, nutritionists, speech pathologists, and occupational therapists. The treatment goal is to lessen the symptoms and improve the child’s quality of life. For example:
- Educational programs that help the child meet developmental and academic milestones
- Encourage active participation at home and in the community
- Speech-language therapy, behavioral therapy, physical therapy, and occupational therapy
- Medications
- Eyeglasses or contact lenses to correct vision issues
- Surgery to place certain tubes in the child’s ear to prevent infections and monitor hearing loss
- Lifestyle changes (including dietary changes, regular physical activity, and others)
Frequently Asked Questions
Does Melatonin treat Smith-Magenis syndrome sleep disturbances?
Yes, doctors may recommend Melatonin supplements if your child experiences insomnia. In general, this is a hormone that helps regulate the sleep-wake cycle.
Is there a cure for Smith-Magenis syndrome?
However, it is not possible to cure this condition because it often develops randomly, but early diagnosis and proper treatment may help improve the child’s quality of life.
When should I go to the ER?
Immediately call 911 or go to the nearest emergency room (ER) if any of the following symptoms occur. For example, seizures, irregular heartbeats, or inability to eat or drink fluids.
What is the life expectancy of a person with Smith-Magenis syndrome?
Commonly, if people do not experience serious complications, their life expectancy is not impacted by this syndrome. For example, it is known that there was an adult with this condition who lived until 88 years old. Ask your healthcare provider if you have any other questions.
