What does SMS mean in THERAPEUTICS

Common symptoms of SMS include cognitive delay and intellectual disability, speech difficulties, aggressive behavior, sleeping problems, and behavioral issues such as self-hugging or head banging. Physical anomalies such as low muscle tone and scoliosis can also be found in people living with SMS.

Diagnosis is made based on the presence of clinical signs combined with the results of specific genetic testing for deletions or mutations on chromosome 17. Other tests may also be done to check for hearing loss or vision problems related to the condition.

SMS is caused by a deletion from one copy of chromosome 17 or a mutation in a gene located on this chromosome called RAI1. The exact cause of the deletion or mutation is usually unknown but some cases have been linked to medical conditions such as diabetes or autoimmune disorders in parents.

There is no cure for SMS, but treatment can help manage its associated symptoms. Medication may be prescribed to reduce hyperactivity and improve sleep patterns while physical therapy can help improve motor skills and overall functioning. Behavioral therapy is also encouraged in order to assist individuals with managing aggressiveness and other challenging behaviors associated with this syndrome.

The degree of severity varies greatly from person to person so each individual's experience with SMS is unique. Some may have milder symptoms while others may experience more significant delays in motor skills and/or learning abilities than average children their age.