RGA Research
If you want to make a comment about the research project please email: chair@restrictedgrowth.co.uk
The three-year project is exploring the quality of life for adults with skeletal dysplasia. It will be using a mix of quantitative and qualitative methods to investigate the natural history of restricted growth conditions, and their impact on quality of life, as well as social experiences of people affected by the conditions and the impact of social barriers such as discrimination and prejudice.
The research was done by Newcastle University for the RGA, who manage the project.
The project has come to its end, and team have been touring the country feeding back their findings. A copy of the full report is now published and can be downloaded by clicking here. You must have a pdf reader to download the report, if you don't have one on your computer you can download a free pdf reader by clicking here.
Research Project Article
Feeling sleepy?
I’m writing this at 11.30 at night after what has been a particularly hectic couple of weeks at work and at home. As I type, I could gladly fall asleep. That’s normal. We know however that there are some people for whom this is an all too common feeling- at any time of the day even first thing in the morning!
Many of you know already that one of the common problems in people of restricted growth, particularly people with achondroplasia is sleep apnoea. Those who have this condition have altered breathing when they are asleep. Breathing which is insufficient for them to get a normal amount of oxygen in and/or get the normal amount of carbon dioxide out of their body. There are lots of causes of this. Being overweight contributes to the problem in many people but so does having narrow upper airways and relatively large tonsils and adenoids or having upper airways in which the muscles are a bit more ‘floppy’ than normal. All of these are important in children and adults with achondroplasia and other forms or restricted growth.
So what’s this got to do with the Research Project? Well one of the things that we seem to be finding is that there are a lot of RG adults who have symptoms of sleep apnoea. The obvious question then is ‘How do I know if I might have it and what do I do about it?’
There are a number of ways of screening people to tell whether they may be at risk of sleep apnoea. One of the most commonly used is the Epworth Sleepiness Scale. It asks about 8 everyday situations: sitting and reading, watching TV, sitting inactive in public (a meeting or a theatre), sitting in a car as a passenger for an hour, lying down to rest in the afternoon, sitting talking to someone, sitting after lunch (no alcohol!!), sitting in a car while stopped for a few minutes in traffic. You are then asked to score whether you Would never doze (0 points), slight chance of dozing (1 point), moderate chance of dozing (2 points) or high chance of dozing (3 points). You add the points up. Those who score 10 or more MAY have sleep apneoa, particularly if their partner thinks that they snore a lot and stop breathing during the night, if they wake up choking or gasping for breath or if they wake up feeling as if they haven’t had a good sleep.
Those who think they might have this problem should talk to their GP about referral to a sleep centre for further assessment. But why bother? Well because sleep apnoea can contribute to poor peformance at school or at work and perhaps most worryingly when driving a car. I have met a number of adults of restricted growth who have described very scary episodes when driving due to untreated sleep apnoea. That of course is the other reason why it’s worth investigating. This is a treatable condition and left untreated can have long term health consequences which, in a small number of very severe cases, can be life threatening.
Sleep apnoea is probably relatively common amongst people of restricted growth. No one is quite sure how common but we believe that it is probably unrecognised in many cases. If you have fallen asleep reading this then it might just be worth going back and reading it again. If you haven’t but you do think some of this might apply to you have a chat with your G.P.
Michael Wright
Funded by the Community Fund, Principal Investigator Dr Tom Shakespeare with Dr Michael Wright (Northern Genetics Service) in association with the Restricted Growth Association. The researcher for this project is Sue Thompson
Download the full research report by clicking here.
Download the Initial Research Findings report. Published March 2007. Click here to download report as a pdf. If you are unable to download it please contact the RGA Office.
The Research Project would not have happened without vital funding from the Big Lottery.
