Australian researchers are seeking parents and carers of children with a vision impairment to help test a new measure of ‘vision use’ for children with vision impairment and/ or cerebral palsy.
Parents of children aged 0-6 years can take part via an online survey.
Matthew is a second year BA Geography student at Northumbria University, Newcastle. He also happens to have oculocutaneous albinism. He is passionate about increasing academic knowledge on the subject of albinism. His research is for a final year undergraduate dissertation project.
Albinism, like many other disabilities, has the potential to have an impact on everyday life. The purpose of Matthew’s study is to enable those with albinism to tell their individual stories and have their voices heard in academic literature.
Matthew aims to show the extent to which albinism impacts people’s everyday lives, including in comparison with other social factors, and explore the measures people take to minimise that impact.
The study takes the form of an online or telephone interview with Matthew. There will be questions about everyday life including work, leisure and socially experienced attitudes. The interview will be 100% anonymous and follows university ethical guidelines.
Participants must be 18+ and have albinism.
To find out more and express an interest in taking part, please contact Matthew by email at [email protected]
Ifigeneia Manitsa is a Psychology researcher at Kingston University London and her research is about the social and academic inclusion of adolescents with and without visual impairments.
She is currently conducting a study looking at the relationship between school engagement and social behaviour in adolescents with and without visual impairments. She is also interested in investigating teachers’ perceptions of the inclusion of adolescents with visual impairments.
She would like to interview adolescents with visual impairments, aged 12-14 years, who attend mainstream or mainstream schools with special resourced provision, their parents, and teachers. The adolescents who participate in this study may have visual impairment, but they do not have any other learning or cognitive disabilities. In addition, QTVIs (Qualified Teacher of the Visually Impaired) and teaching assistants/support staff have been excluded from this study.
Adolescents’ questionnaires will take approximately 10-15 minutes to complete and they can be completed via Skype/Zoom. Their parents and teachers’ questionnaires will take approximately 10-15 minutes and they can be completed online.
Would you be interested in participating in this study or do you know someone who could be interested in participating? If yes, please do not hesitate to contact Ifigeneia.
People with nystagmus are being invited to contribute to medical research by sharing their experiences of accessing a patient information pack, designed to support people living with the little known and complex eye condition.
The team at the University of Sheffield behind the Nystagmus Information Pack would like your help to review the pack and improve care and information services for nystagmus patients.
You can take part by completing an online questionnaire from the safety of your own home.
The Nystagmus Network commissioned a YouGov survey in May 2020, ahead of Nystagmus Awareness Day on 20 June, to see how aware the UK population is of nystagmus. The survey was free of charge, thanks to a competition, run by the Small Charities Coalition of which we are a member.
82% of people have never heard of nystagmus
14% said a friend, acquaintance or family member has the condition
Once we had explained what nystagmus was, we asked people in what other ways they thought nystagmus might affect a person apart from their eyesight. Alongside the usual suggestions of difficulties with reading and writing, employment, socialising and getting around, a startling 24% thought that people with nystagmus would also have learning difficulties.
One of the Nystagmus Network’s strongest messages is that, whilst nystagmus can affect access to learning, it definitely does not affect ability to learn.
It seems we still have some way to go in delivering this message.
Finally, we asked what people thought would most help improve the quality of life of people living with nystagmus. The most popular suggestions were medical research, access to information and adapted technology, with 59% agreeing with us that greater awareness in the general population helps those living with the condition.
We are grateful to YouGov and the Small Charities Coalition for this opportunity to poll the UK population at large and pleased to report that all 250 of our respondents are now ‘nystagmus aware’.
Guest post from Saima Begum, University College London
I am a student at University College London, studying at the Institute of Education and I am emailing to ask for your help with my Masters research project into Vision Impairment.
This project aims to examine technology use in young people with vision impairment, and whether this influences their educational attainment.
There is much research that has found that technology such as screen-readers on phones have been useful for people with vision impairment to be able to function in everyday life, so my project is aiming to look at whether technology use can also have positive effects on education.
Moreover, because of the increasing use of social media, I plan to look at whether technology use can have a positive effect on friendships. This data is important to collect as it will show how young people with VI use technology, and how this could be utilised so they perform better in school.
Participants are invited, between the ages of 11 and 18.
All questionnaires can be completed online, and participants can do this from the comfort of their own homes.
The questionnaire is accessible for screen readers. The first page of the questionnaire also includes an information sheet with more details regarding the project.
We want to hear from you.
What question would you ask a nystagmus researcher if you could?
Send us your question!
Email us at [email protected]
We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.
Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.
(HL) Empowering patients and their families, making sure they have the information they need to understand their condition and that needs to be passed on to their schools or their employers on how best to optimise their circumstances. These are all little things that don’t require a pill or a prescription, but make a big difference. If, say, a child is put into the right place in front of the whiteboard for their null point or given extra time or things are blown up or they’re given an i-Pad. All these little things make a big difference before we prescribe anything or do anything else.
Then there are little things like optimising your glasses, making sure they’re the best they can be, with tints if you need them or checking your vision in the dark if you have a retinal dystrophy, or checking whether bright light makes a difference. It’s actually about understanding all those little things. Then you can get on to other things like contact lenses, surgery for null point if necessary, trying treatments such as the ones we try for acquired nystagmus and for congenital nystagmus. Sometimes there’s prism treatment. There’s quite a lot of stuff that can be done in your local clinic that doesn’t require anything very special, but just requires understanding of the condition.
(JS) I would agree. A lot of it boils down to information sharing support and also doing all the normal stuff in a timely way. I totally agree with the glasses correction. It’s easy to put that to one side when people are stressed about getting the genes tested. You’ve got to do all the normal things we do in a timely way and in a bespoke, sensible way.
A final thing is a massive thing that the Nystagmus Network can do, which they have been doing for the last few years, which is really celebrating good news stories, which I don’t think was a massive focus a few years ago. If you speak to David Katz or Richard Osman they almost say that ‘nystagmus made me,’ ‘it’s made me do the things I’m doing and it’s actually given me super powers.’ You cannot push that message too much, especially when you’ve got new mums with little babies and they think it’s the end of the world.
The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.
We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.
Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.
(JS) There are drugs which are already used for conditions which have nystagmus as part of them. For example, there are spinocerebellar ataxias which neurologists would generally deal with. These conditions involve difficulty with balance, coordination and also sometimes episodic nystagmus. These conditions, which can be caused by genes, sometimes respond to drugs we would normally use for blood pressure. This is a classic example of why genetic testing is a good idea. You would never give a child a blood pressure tablet otherwise.
Secondly, it is really likely that there are drugs which we use already for other conditions. For example, there are drugs which we know cause increased pigmentation as a side effect. This is just asking to be looked at for people with albinism. There are lots of drugs like that and also other more complicated mechanisms. So part of the study we are doing is to bung a shed load of drugs that might have some benefit on these cell assays and see if they start to work and then follow them up.
So, I think the answer is absolutely, yes.
In response to a direct question there was some discussion about the use of cannabis, to which the conclusion was that anything which helps a person to relax, whether that be a walk or listening to some music can help dampen the nystagmus temporarily.
There was a further question about lifestyle and diet to which the answer was that certain retinal conditions are sensitive to levels of vitamin A in the diet, but in the case of nystagmus the advice does not currently go beyond normal guidelines for a healthy life style, based on available evidence.
The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.
We asked a group of Nystagmus Network supporters what questions they would most like to put to nystagmus researchers. Then we found researchers to answer them.
Your questions were answered by Jay Self (JS), a Consultant Paediatric Ophthalmologist at University of Southampton and nystagmus researcher and Helena Lee (HL), a Consultant Ophthalmologist at University of Southampton and a nystagmus researcher.
(JS) The main development in genetics is being able to do loads of sequencing. That means finding out all the genes that lots of individuals have, what their particular spelling changes are and how they’re different to everybody else. That’s part of the 100,000 genome project.
The problem we have is then interpreting all that material. All of us will have a few million variants that are different from each other, that we shouldn’t really have or that we haven’t seen before. When you test 3.2 billion things you find all of this data and the question is that we haven’t all got a million diseases so some of them are causing things, some aren’t. It’s all about interpretation. This is where diagnostics comes in. We are getting better at that. It will lead to being able to group patients better. So when you then go on to test things or see what happens during life, or to see whether having funny toe nails really is related to nystagmus, you can start to look at groups and what these conditions are and then what you can do about them.
The second thing about gene therapy and gene changing, that absolutely is relevant. There are quite a few retinal conditions which cause nystagmus for which gene therapy is already going through. There’s one which is now NIHCE approved. This is going to be available through the NHS as one of the first ever gene therapies. It’s for a type of RP called Leber’s.
Gene therapy is a potential, but it goes a bit further than that. There are various drugs now which we know can change certain spelling mistakes. There are also some albinism changes that we’ve looked at before.
There are lots of other potential medical therapies which might change genetic outcomes. This is where this all might contribute, but we need to keep refining and refining the patient groups stage. There is no way any of that is going to work as a panacea.
It’s one thing to look at nystagmus as an end point. All this is about looking at the opposite end, at very specific changes.
Quite often, if you’ve got a single gene that causes a disease, some drugs might only work if it’s a particular type of spelling mistake in a particular part of that gene, if you happen to be male, etc. So you can end up with tiny numbers. One of the challenges is that originally gene therapy was reported as being able to correct spelling mistakes. But if you have 4,000 spelling mistakes you can’t develop 4,000 different gene therapies. So the idea now is to develop gene therapies that replace bigger chunks to treat more variations or more patients.
(HL) As we understand how the disease is developing as a result of each of the spelling mistakes, we’ll also understand how to target the treatment. It might not necessarily be gene therapy. It might be something as simple as a dietary supplement. We need the genetic test then we can say you can benefit from this combination of things. You need this and this to start with. We know this is how your disease will turn out, we know that this type of gene therapy would probably be pointless for you. The idea with personalised medicine is that each person goes in and comes out with a different set of advice and guidance or treatment.
The Nystagmus Network is enormously grateful to Jay and Helena who gave up their time on a sunny Saturday afternoon to answer questions from the nystagmus community so openly and fully.
