IMAGINE ID Research Opportunity: Can you help?

IMAGINE ID Research Opportunity: Can you help?

IMAGINE ID is a research study that aims to increase understanding of children and young people with intellectual disability. It is supported by UNIQUE, the rare chromosome disorder charity. The IMAGINE ID team is very keen to learn more about the link between behaviour and rare chromosome conditions. The study, led by University of Cambridge, University College London and Cardiff University, hopes to collect information from over 3,000 families by May 2019.

To participate in IMAGINE ID your child should be aged 4 or over. The research group is based in the UK but they are interested in families worldwide. If you live outside the UK, to take part you must have access to your child’s genetics reports. Taking part involves filling out secure online questionnaires about your child’s development and behaviour from the comfort of your own home. If you’re not happy with computers or do not have access to the internet, the IMAGINE ID team can go through the questionnaire with you over the telephone or in person. The questionnaires will take approximately 2-3 hours, but you are able to save your answers as you go and can login an unlimited number of times to complete it.

After completing this you will receive a personalised summary report which you may find useful when your child is undergoing assessment for services, school or specialist treatment. If you wish, members of the IMAGINE ID team may also visit you at home to conduct an interview with you and puzzles with your child.

If you are interested and want to find out more about the IMAGINE ID study please contact them by telephone on +44 (0)1223 254 631 or email them at imagine.id@nhs.net The team is very happy to answer any questions you have.

Can you help us with a Sotos Syndrome Study?

Chloe Lane is studying for a Ph.D. at the University of Sheffield. She is looking for both children and adults with Sotos to take part in a research project to find out about the cognitive abilities of individuals with Sotos Syndrome.

The study will involve using a number of different tasks to measure abilities such as remembering information, understanding a conversation and making patterns.

All individuals who take part will be given detailed feedback about how well they performed in each of the tasks and this report can be given to teachers, employers or anyone else who would benefit from having a clear understanding of the cognitive strengths and weaknesses of the affected person.

She is hoping to recruit as many people as possible so that we can gain a really good understanding of the cognitive profile of Sotos syndrome. Once the research has finished, she intends to produce a detailed overview of the findings which can then be given to schools. This will help teachers to understand what to expect from a typical Sotos child when they first start school or move to a different school. For more information or to take part please click here. You can also email Chloe who will be happy to answer any questions: clane2@sheffield.ac.uk.

Can You Help Us With The STAARS UK Research Project?

This piece is taken from our newsletter. There is currently a Study of Adults and Adolescents with Russell Silver Syndrome in the UK (STAARS UK) that we desperately need help to recruit for. It details why this vital research is being carried out and how you can help.

Dr Kemi Lokulo-Sodipe

The STAARS study has been taking place in Southampton for some time now.

I cannot emphasise how important this research is. For many years we have heard from patients and parents that there is no information available about adults and RSS. When Georgia was younger and even now, we often wonder if she will have any specific problems and if she will have any long-term problems. It would be so much easier if we had answers, we would know about treatment options and many other questions could be answered. The only way to find this out is to do research, which is what STAARS is all about.

Just this morning, I took a call from a lady who was inconsolable because she had had a letter from her son’s paediatrician saying, they think he could have RSS. She was desperate for reassurance and information about how her son will be affected and if he will grow beyond 5”. I could reassure her to a point, but hopefully following STAARS, we will be able to really make a difference and take some of the worry away.

We cannot get these answers if we do not recruit enough participants, so, if you are 13 years old and above, please consider taking part.

Kemi and Lisa would love to meet you, so please get in touch. You can either contact me or contact Kemi or Lisa directly for more information.

There is an added incentive to patients who have not been genetically diagnosed with RSS. Many adults have never been tested, because testing wasn’t available.

Many centres in the UK are involved, so you don’t have to travel to Southampton; You can also go to: Birmingham, Manchester, Oxford, Cambridge, St Georges — London, Liverpool, Newcastle, Exeter, Northwick Park, Bristol and Cardiff.

All expenses will be covered.

Jenny Child (Membership & Communications Manager and Mum to Georgia — RSS MUPD7)

Professor Karen Temple

Why are we carrying out this study?

Following many conversations with Prof Karen Temple we indicated that research to increase information on long-term health issues and growth is a priority as there is little information in confirmed RSS. The main aim of the study is to gather a group of people with RSS, to collect information on long-term outcomes so that data are available for families, which we hope will help in their decision making about treatment. For example, it is well-established that poor growth in the womb and in early childhood increases the risk of heart disease and related disorders in adulthood but does this happen in RSS?

Would you like to share your experience of what it is like to live with Russell-Silver syndrome? If so, we would really like to hear from you.

We are collecting this information to help families make decisions about treatment, so your participation could make a real difference. We have started interviewing participants and need to recruit about 30 people with RSS by April 2016. There is no need to travel; our researcher will come to your home or a place near where you live to conduct the interview. This study is part of ‘The study of Adults and Adolescents with Russell-Silver Syndrome’ at University Hospital Southampton.

Lisa Ballard, Researcher

The interview will take about one hour and will be conducted by Lisa Ballard, our Qualitative Researcher.

We will report the findings of this study in academic journals and directly to the CGF.

Dr Kemi Sodipe is still recruiting to the STAARS study on long-term health issues and growth in RSS, which includes a discussion, an examination and some tests. If you are interested, we could arrange an appointment at your nearest genetics centre.

For further information on both studies, please contact:

Jenny Child — jenny.child@childgrowthfoundation.org who will post information leaflets with full details. Alternatively, please contact the STAARS team directly on: STAARS@uhs.nhs.uk. There is also information on the website