If we have one child with SMS, will our other children also have SMS?
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 on to have other children without a genetic abnormality after a child with SMS.
What age does SMS usually present?
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.
My child is having difficulty feeding, is this normal?
Infants with SMS quite often have feeding difficulties. This is caused in part by low muscle 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.
My child is almost 3 and hasn’t started to talk is this normal?
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.
My child is showing no sign of being able to be toilet trained. Can children with Smith-Magenis syndrome be toilet trained?
Some children with Smith-Magenis syndrome do have toileting difficulties. This can include late development of toilet training and/or nighttime 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.
My child is 2 years old, but is not crawling or sitting up, is this normal?
Infants with SMS quite often have 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.
Can adults with SMS still lead independent lives?
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 be 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.
What is the life expectancy of individuals with SMS?
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 40s and 50s. It is believed that unless there are additional medical complications, life expectancy should not be impacted.