What is Silver-Russell Syndrome (SRS)?
Hello, in this Healthsketch we’d like to talk to you about Silver-Russell syndrome or Russell-Silver Syndrome, a rare genetic disorder that causes poor growth before and after birth. The condition is named after Dr Silver and Dr Russell who first described the syndrome in the 1950s, and it is thought to occur in between 1 in 30,000 and 1 in 100,000 births. Genetic changes are known to be involved in about 60% of diagnosed cases, and it is likely that other causes remain to be found.
Research is ongoing to understand more about the condition and its causes. So, what are the main features of SRS? Almost all affected children have slower growth in the womb and low birth weight compared to other babies. However, it is important to know that there are many other more common reasons why a baby may be small, and most of these babies will catch up over the first two to three years of life. In SRS, there is no ‘catch up’ into the normal growth centiles, and children will remain small and thin for their age. There will also be additional features that point towards the diagnosis. Babies with SRS frequently have feeding problems, eating little and with difficulty, which can contribute further to poor growth. Some may experience episodes of low blood sugar levels, called ‘hypoglycaemia’. There may also be certain facial features, such as a prominent forehead, relatively large head size and small chin, giving a more triangular facial appearance.
One side of the body may be smaller than the other (known as body asymmetry). Children often experience increased sweating, especially at night. Puberty may begin slightly earlier than normal, which can result in a shorter final adult height. These and other, less common features, are quite variable. Not all children will have every feature and the severity of problems varies widely. The diagnosis of SRS depends on recognition of these features by a doctor, usually a specialist in genetics or hormones. Recently, some genetic tests have been developed that may help confirm the diagnosis.
However, normal genetic test results do not rule out the diagnosis, which is still made on the basis of clinical features. Recent consensus guidelines have been published to help doctors recognise and diagnose the condition. Children with SRS are usually under the care of a paediatric endocrinologist, who specialises in growth and hormone treatment. Depending on the problems experienced, a wide range of additional professionals may also need to be involved, including a dietician, physiotherapist, orthopaedic surgeon, speech therapist, psychologist and clinical geneticist.
How is the condition treated? In the early years, therapy is based around trying to maintain good dietary intake and avoid episodes of hypoglycaemia. It is important to get the balance right between healthy weight gain and putting on weight too rapidly. After the first few years, and once dietary intake has been optimised, children with SRS may be offered growth hormone, which is given as a daily injection. Growth hormone has been shown to be effective in increasing final adult height, and though the response can be variable, it may improve final height by around 7 to 11 centimetres.
The improved growth rate can be a major boost to self-esteem and confidence, particularly as they progress through school and keep up closer to their peer group. Additional benefits of growth hormone therapy include increased appetite, body mass and muscle strength. If children are found to be starting puberty early, they may be offered additional treatment to help slow this down. Unfortunately, it is easy for small children to be treated by others as being younger than they really are. It is important that teachers and parents recognise this and treat children with SRS appropriately for their age. There may be some activities which they find difficult due to being smaller and having lower muscle tone, but overall, they will usually be healthy and active and lead normal lives. Individuals with low birth weight are known to be at increased risk of developing metabolic syndrome in adulthood. However, little is known about specific long-term health problems in adults with SRS and research is currently ongoing to look into this.
Older children and young adults should lead a healthy, active lifestyle to help avoid excessive weight gain and metabolic problems, such as diabetes. In this Healthsketch, we’ve talked about SRS, a genetic condition that affects the growth of children. We’ve talked about the symptoms that occur, how it is diagnosed, and how it can be treated. We hope this video has been helpful to you and those you care about.
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