We are aware that some children with scoliosis are not being diagnosed until their curve is quite severe. This is concerning because an earlier diagnosis can lead to treatments that reduce the curve or halt progression.
Scoliosis can remain well hidden in PWS due to altered tone and differences in how scoliosis presents in PWS compared to idiopathic scoliosis. This makes it hard to detect visually and curves can appear less significant. Screening practice in New Zealand is to use the Adam’s Forward Bend Test and then to refer for x-ray if there are concerns. However, this can result in cases being missed and does not align with the recommendation of Dr Harold van Bosse, who is highly regarded internationally as a leading expert.
As studies have shown that almost a 1/4 of children with PWS will develop a curve before their 4th birthday, Dr. van Bosse recommends radiographic screening once a child is sitting unassisted, and then annually until about 4 years old. If a curve is detected at a young age, casting can be very successful. After 4 years, the risk of scoliosis developing then diminishes until increasing again in adolescence. We intend to call for changes to current screening practice, but in the meantime, we suggest you request your paediatric team follow Dr. van Bosse’s recommendation if your child is under 4 years. After this time, monitoring with thorough spine exams is sufficient, but with close observation from 10 years old. Look carefully for any signs of asymmetry and request an x-ray if you have concerns. (Note: if your child did not receive spinal x-rays at a young age, consider that a curve could have been missed.)
Several families have told us that their doctors blame visual appearance on poor posture or are reluctant to order an x-ray because they feel radiation risks outweigh scoliosis risk. However, risk of scoliosis in PWS has been found to be very high, with a prevalence rate of 60-70%. The prevalence rate also appears slightly higher in females and those with UPD.
Scoliosis and Growth Hormone Treatment
There are often questions about whether growth hormone treatment should be paused when a curve is found. Expert advice is based on two studies (2021 and 2009) which found neither prevalence or progression to be affected by GHT. It is more likely that GHT is helpful as it improves lean muscle mass and bone density. Recent data has indicated that GHT helps to ward off scoliosis in infants.
For further information about scoliosis, expert presentations can be found in the orthopaedics playlist on our YouTube channel. Guidelines and research papers for your medical team can be found in the professional resources section of our website. Please ask if you can’t find what you are looking for and we would be happy to help.