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Genetic and Rare Diseases Information Center (GARD)

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Smith-Magenis syndrome


Other Names for this Disease
  • Chromosome 17p11.2 deletion syndrome
  • SMS
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Your Question

Can children with Smith-Magenis syndrome be potty-trained? Can they learn to talk? What are their learning capabilities?

Our Answer

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What is Smith-Magenis syndrome?

Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of the condition. Smith-Magenis syndrome is not typically inherited, but results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development.[1]
Last updated: 2/15/2012

What are the signs and symptoms of Smith-Magenis syndrome?

The major features of Smith-Magenis syndrome include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.[1]

Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals.[1]

Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but have trouble falling asleep and awaken several times each night.[1]

People with Smith-Magenis syndrome have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. People with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as 'lick and flip').[1]

Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.[1]

Last updated: 3/1/2010

Can children with Smith-Magenis syndrome be potty-trained?

Many children with Smith-Magenis syndrome have toileting difficulties.[2] These may include delayed potty training and/or persistence of nighttime bedwetting (enuresis).[3]
Last updated: 3/1/2010

Can children with Smith-Magenis syndrome learn to talk?

Many children with Smith-Magenis syndrome experience early speech delays, particularly with expressive language. However, with appropriate intervention and a total communication program that includes sign language, gestures, or a picture system, verbal speech generally develops by school age.[2][4] In some, articulation problems may persist.[2]

To read more detailed information about the communication delays frequently associated with Smith-Magenis syndrome and the strategies which may help implement language skills in these children, visit the following link developed by the Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) organization: http://www.prisms.org/LivingWithSMS/speech_language.htm

Last updated: 3/1/2010

What are the educational capabilities of children with Smith-Magenis syndrome?

Developmental delays are frequently evident in early childhood, and the majority of older children and adults with Smith-Magenis syndrome function within the mild-to-moderate range of retardation. A cognitive profile has been described with relative weaknesses observed in sequential processing and short-term memory; relative strengths were found in long-term memory and perceptual closure (i.e., a process whereby an incomplete visual stimulus is perceived to be complete: 'parts of a whole').[2]

For articles which provide insight into students with Smith-Magenis syndrome and how to develop better educational plans and strategies to meet their needs, visit the following web page developed by the Parents and Researchers Interested in Smith-Magenis Syndrome (PRISMS) organization:
http://www.prisms.org/LivingWithSMS/Education.htm 

Last updated: 3/1/2010

References