Frequently asked questions

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Smith-Magenis syndrome is typically not inherited. It usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most often, people with Smith-Magenis syndrome have no history of the condition in their family and go to have other children without a genetic abnormality after a child with SMS.

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As it is a genetic disorder, a baby is born with the syndrome. With the increased awareness and genetic analysis techniques, many babies are diagnosed at or shortly after birth, this is due to the babies presenting with facial characteristics associated with SMS or through being born with a congenital heart defect.

Sometimes a baby is not diagnosed at birth, but as they develop either the parents or professional start to notice their child has developmental delay in a variety of areas or that they have facial/statue characteristics associated with SMS and so genetic analysis is requested.

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Infants with SMS quite often have feeding difficulties. This is caused in part by low muscles tone, lethargy and poor sucking and swallowing ability. The infant will need to be assessed by occupational therapy (OT) and speech therapy (SALT), in order to assess the oral-motor function and then oral-motor therapy to be received.

It may be that your child finds it difficult to eat anything other than soft food for quite some time. It is important to gain input from the OT, SALT and a dietician to assist with this difficulty.

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Many children with Smith-Magenis syndrome experience early speech delays. However, with appropriate intervention including Speech and language therapy and the use of  sign language, gestures, or a picture system, verbal speech generally develops by school age, although continued articulation difficulties can continue.

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Some children with Smith-Magenis syndrome do have have toileting difficulties. This can include late development of toilet training and/or night time bed wetting. However with consistent implantation of a toileting routine and input  (if needed) from an incontinence nurse, in most cases, children with SMS can be toilet trained – albeit possibly later than ‘usually’ expected.

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Infants with SMS quite often has physical developmental delay, this is linked to the fact that many have low muscle tone in their trunk and lower body, however by the time the children are 4  or 5, most children with SMS are walking.

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Due to the varying degrees of difficulties that individuals with SMS experience, there is no set answer to this question. A few individuals are known to able to attend college and have supported part time jobs and live semi independently. However many remain living with family or in sheltered housing or residential facilities.

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As it is a relatively ‘new’ syndrome, there isn’t a detailed knowledge of the’average’ life expectancy. However it is known that there was an adult with SMS who lived until she was 88 years old, and there are several adults with SMS in their 40’s and 50’s. It is believed that unless there is additional medical complications, life expectancy should not be impacted upon.