Smith-Magenis Syndrome

Smith-Magenis Syndrome is a genetic condition. Most people who have it have a deletion on one of their chromosomes (17p11.2). This deletion includes the RAI1 gene. Mutations in this gene cause most of the signs and symptoms of the disorder.

People with SMS have intellectual disability. This means they have lower-than-average IQ scores and may have problems with learning, thinking, and remembering things.

1. Symptoms

Affected people have a deletion of genetic material on part of chromosome 17. Most affected individuals have mild to moderate intellectual disability and distinctive behaviors. Their personalities are usually affectionate and engaging, but they also often display behavioral problems including sleep disturbances, self-injurious behavior, and repetitive or ritualistic behavior such as licking or flipping pages of books (a condition known as hyperlexia).

Disrupted sleeping patterns characteristic of SMS occur throughout the person’s life. Infants with SMS tend to take long naps and wake up several times during the night, while children and adults get less sleep than their peers of the same age. They may spend less time in REM sleep, the stage of sleep when dreams occur, and are more prone to circadian rhythm sleep disorders.

Other symptoms include short stature, a curvature of the spine called scoliosis, and ear abnormalities that can lead to hearing loss. Some affected individuals have problems with their heart or kidneys. Mutations in the RAI1 gene, which provides instructions for making a protein that regulates cell growth, are associated with Smith-Magenis Syndrome, but these mutations are less common than the deletions that cause the other features of this disorder.

2. Diagnosis

Smith-Magenis Syndrome is a genetic disorder that affects 25,000 people worldwide. It’s caused by missing parts of chromosome 17 and changes in the gene RAI1.

Most affected children have major sleep disturbances felt to be related to a shift in circadian melatonin production. They also have characteristic behavioral abnormalities, including self-injurious behaviors and distinctive craniofacial and skeletal anomalies.

Affected people have short stature, and the curve of their spine (scoliosis) often pronounced. They may also have a reduced sense of touch and pain, eye problems such as nearsightedness (myopia) or strabismus, and heart and kidney defects.

Behavioral issues such as aggression, tantrums and outbursts, difficulty paying attention, and compulsions to lick fingers or flip the pages of books and magazines are common. They can also have trouble communicating and socialize with others. These problems can help by enrolling your child in early intervention and educational programs. They can also benefit from physical, occupational and speech therapy. In some cases, medications can help control their behavior. These medications may include antipsychotics, mood stabilizers and sedatives.

3. Treatment

People with smith-magenis syndrome have major sleep disturbances, felt to be related to a shift in circadian melatonin secretion. Affected individuals experience trouble falling asleep, waking several times throughout the night, and are often excessively sleepy during the day.

Most cases of smith-magenis syndrome caused by deletions in a region of chromosome 17 called 17p11.2, which includes the RAI1 gene. But mutations in the RAI1 gene can also cause smith-magenis syndrome, and it’s possible that other genes within this region are involved as well.

The RAI1 gene provides instructions for making a protein, and it’s not entirely clear how changes to this gene lead to the symptoms of smith-magenis syndrome. But it’s likely that the RAI1 gene produces proteins for multiple parts of the body, and changes to this gene affect how these parts work together.

People with smith-magenis syndrome may benefit from medications to treat complications of the condition like attention deficit hyperactivity disorder, seizures, constipation, and hearing loss. They may also benefit from a healthy diet and regular exercise. And they may help by supportive services and organizations that offer resources, advocacy, and community support.

4. Genetics

Smith-Magenis Syndrome caused by missing genes in a part of chromosome 17, specifically in band p11.2. This considered a contiguous gene deletion syndrome, and most people with the condition have a small deletion of genetic material in each cell. The remaining genes in this region may be abnormal as well. Specifically, a gene called RAI1 is often defective in this condition.

The genetic changes that cause this disorder happen spontaneously (de novo) in early pregnancy when the egg and sperm meet during conception. This is different from inherited diseases like Down syndrome, which caused by a change in a person’s DNA that happens after they are born.

To make a diagnosis of Smith-Magenis Syndrome, your child’s health care provider will ask about your child’s symptoms and family history and do a physical exam. A genetic blood test can help confirm the diagnosis. Treatment focused on addressing complications of the condition, such as attention deficits, epilepsy, constipation, scoliosis and hearing and vision problems. Some children with Smith-Magenis Syndrome also receive speech and language therapy, occupational therapy and physical therapy.

5. Circadian Rhythm Sleep Disorder

The natural circadian rhythms – the 24-hour cycles of sleep, activity and wakefulness – control many aspects of the body’s functioning. These include things like brain wave patterns, hormone production and cell regrowth. A circadian rhythm sleep disorder occurs when the internal clock disrupted and no longer resets or synchronizes with the light-dark cycle. Examples include jet lag (which gets worse each time you cross a time zone), shift work sleep disorder (people who rotate shifts and often work at night), delayed or advanced sleep phase syndrome (DSPS/ASPS) and irregular sleep-wake rhythm disorder.

People with SMS and the deletion of chromosome 17p11.2 have a severe disruption in their natural circadian rhythms, leading to insomnia and excessive daytime sleepiness. Researchers believe that the gene mutation in this condition alters the production of melatonin, which sets the circadian clock.

It’s important to get a diagnosis and find a treatment that will be most effective for your loved one. Behavioral and medical treatments can be use, depending on the problem. Tests that may be useful include sleep diaries, wrist watch-like devices that monitor sleep and activity and overnight and daytime sleep studies.

6. Behavioral Issues

In addition to sleep problems, SMS people often exhibit behavioral issues, such as self-injurious behavior, aggressive and destructive behaviors and restlessness. Aggressive behaviors seem to be a classic phenotype associated with this condition, particularly in comparison with other neurodevelopmental disorders such as Rett syndrome or X fragile syndrome [47-50].

In some cases, these behavior issues appear to be cause by cognitive impairment. Speech delay and difficulties in understanding prohibitions and implicit notions can lead to frustration and a desire for attention, which may result in temper tantrums or aggression.

Most people with SMS have moderate intellectual disability (IQ between 35 and 50 on standard tests). They often have relative strengths in long term memory, visual attention and reading. However, these strengths do not appear to be consistent across studies.

7. Developmental Anomalies

The majority of people with smith-magenis syndrome have a deletion (loss) of genetic material from the 17p11.2 region of chromosome 17, which contains many genes. The deletion specifically affects a gene called RAI1. In 10% of all cases, this deletion happens randomly when the egg and sperm unite at conception (zygote mutation).

The specific symptoms associated with SMS vary among individuals, and can range from mild to severe. They include distinctive facial features, skeletal malformations, varying degrees of intellectual disability and delays in development, sleep disturbances and behavioral issues.

Frequently seen physical anomalies include short stature, an abnormal curvature of the spine (scoliosis), obesity and an unusual gait characterized by toe-walking or a broad-based walking stride. Other symptoms may include a hoarse voice, problems with the ears and eyes, and hearing loss. People with SMS may also engage in repetitive self-hugging or compulsively licking their fingers and flipping pages of books and magazines.

These behaviors often described as attention-seeking or self-injurious. (See more information on these behaviors below.) Affected individuals may have eye abnormalities such as a “distended” appearance of the eyelids or a bowed head (brachycephaly). Affected children are also more likely to develop an inverted champagne bottle shape with the feet (pes cavus or pes planus). This characteristic appears early in childhood and persists into adulthood.

Elevating Lives: Smith-Magenis Syndrome Support at Humanity Care, Adelaide

At Humanity Care, we stand as a beacon of unwavering support for individuals and families touched by Smith-Magenis Syndrome (SMS) in Adelaide. Our distinguished disability support services are meticulously designed to cater to the unique challenges posed by SMS, fostering empowerment, growth, and an enhanced quality of life.

Tailored Holistic Care:

Our approach encompasses a comprehensive range of care services, specially curated to address the diverse needs of individuals with SMS. From personalized medical attention to educational guidance and therapeutic interventions, Humanity Care is committed to ensuring a holistic support system for each individual.

Guidance from Experts:

Our team of seasoned professionals possesses an in-depth understanding of Smith-Magenis Syndrome. Collaborating closely with families, we craft customized care plans that align with the distinct requirements and aspirations of each individual. Our expertise serves as a guiding light through every step of this unique journey.

Inclusivity and Unity:

At Humanity Care, we believe in fostering a sense of community. Our environment is designed to be inclusive, encouraging individuals with SMS to connect, share stories, and build lasting connections. Through interactive workshops, group activities, and communal events, we nurture a sense of belonging that is vital for personal growth.

Empowering Self-Sufficiency:

Our ultimate aim is to empower individuals with SMS to unlock their full potential. We focus on promoting self-sufficiency through skill-building programs, vocational training, and personalized educational support. By equipping individuals with the necessary tools, we enable them to embrace their strengths and aspirations.

Holistic Family Support:

We understand that caring for a family member with SMS can be both fulfilling and demanding. Hence, our support extends not only to individuals with SMS but also to their families. Our array of resources, counseling services, and educational seminars strengthen familial bonds and provide the guidance required to thrive as a united support network.

A Dedication Beyond Limits:

At Humanity Care, our commitment transcends conventional care services – we are dedicated to making a profound difference in the lives of individuals with SMS. With compassion at the core and a team of devoted professionals, we feel honored to play a role in sculpting futures filled with potential and optimism.

Explore the transformative support that Humanity Care brings to the Smith-Magenis Syndrome community in Adelaide. Together, we’re shaping a future where possibilities abound, growth is boundless, and hope remains eternal.