Can you help harness parental knowledge about genetic intellectual disability?

When I was at the Cambridge Rare Disease Network Summit the other week, I saw a very interesting presentation that has something of interest for every family of a child with a genetically-derived intellectual disability. This means everything from autism, Down's syndrome, Williams syndrome and many, many other conditions from the rare to the much more frequently occurring.

I was planning to get in touch with IMAGINE ID team but, as it happened, they had also spotted our SNJ stand at the event and beat me to it! IMAGINE ID stands for Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment. It's run by the University of Cambridge, University College London and Cardiff University and focuses on children diagnosed with a genetic condition which affects his/her learning.

They're looking to collect information from over 5,000 families with children aged 4 and over with intellectual disability due to a genetic cause. They hope to learn more about the long-term behaviour and mental health of children and young people from this large group of families. 

A particular benefit for families joining the study is once the DAWBA is completed, they will receive a personalised summary report detailing the child’s strengths and difficulties. This report has proven very useful for hundreds of families so far when applying to specialist services, SEN/EHCP and treatments. 

The research study coordinator, Marie Erwood has written a post for us with more details of the story and how you can get involved.

http://www.imagine-id.org/

A study of intellectual disability, mental health and genetics

 When parents receive a diagnosis of a genetic condition in their child, a frequent next question is “So what does this mean for my child?” One of the most common results of having a genetic condition is some level of intellectual disability, learning problems or developmental delay. While some genetic conditions are very well described and quite a lot is known about them, there are many others which are very rare or newly identified and there is not much information available to help families with the diagnosis and what to expect in the future.

The IMAGINE ID study came about through the researchers’ wish to improve the information available for these families and to see the similarities and differences between different genetic changes. We aim to increase understanding of children and young people with intellectual disability and learn more about the link between behaviour and rare genetic conditions. Our researchers realised that most of the time, parents are those with the most expertise about their children. We want to harness this parental knowledge about their children and collect this information, rather than relying only on clinical observations which may not pick up all the small details about a child’s behaviour outside of a clinic appointment.

What participation entails

We ask parents to complete a questionnaire about their child (ideally on our secure online portal but it can also be done over the phone or in person) which goes into detail about the child’s behaviour and well-being. The questionnaire takes about 3 hours in total but is responsive and can be saved as you go along, so doesn’t have to be completed all in one go. Parents report that they have found this really helpful as it means they can do a bit each day rather than having to set aside a big chunk of time, which can be very difficult. We also ask some families to complete other online assessments (usually dependent on age of the child) and parents can choose whether they want to do this or not.

The other component of the study is a face to face assessment. We invite a limited number of families to take part in this (10 percent of the total participants) and families can decide when they sign up to the study whether they would like to be considered for invitation to this part. Our researchers come to the family home and carry out more in-depth assessments which give us more information about these children and help us to check that the online assessments are giving the same results as an in-person assessment would.

Once the online questionnaire is completed, the research team collects the answers and creates a personalised summary report which we send back to families. The report summarises the answers given in the questionnaire and shows scales to indicate how the child scores in certain areas compared to other children. You can see an example of the report. The report is usually received within 2-4 weeks of completing the assessment and many families have found this really useful when undergoing assessments such as SEN/EHCP, or when speaking to teachers or healthcare workers.

Here are some testimonials provided by families who have taken part in the study so far:

“The format of the questionnaire was so straightforward to follow, allowing me to drop in and out of it as I found the time.” 

“It gives a record of where [name of child] is and how she is now. When I read it in 5 years’ time I can look back at how she was and if things have changed.”

“Amazing – helped in education setting and used in his specialist school. They have looked through it and bits they weren’t aware of or bits I haven’t mentioned have been really informative for them.”

imagine id team
The IMAGINEID team

More families needed

The IMAGINE ID study is led by University of Cambridge, University College London and Cardiff University and has nearly 1000 families recruited already, but is hoping to recruit over 5000 families. We would like to recruit a large number of families with a wide range of ages and genetic conditions so we can try to understand whether different types of genetic changes have similar outcomes, to what extent environment plays a part in a child’s development and behaviour, and what families might expect as their child grows up.

How to take part

The IMAGINE ID study is funded by the Medical Research Council and is running until 2019. To take part in the study, children should be over 4 and have intellectual disability, learning difficulty or developmental delay that has a genetic cause. All Regional Genetics Centres in England, Wales and Scotland are recruiting families to IMAGINE ID, so if you are interested you can either contact your Genetics Centre or get in touch with the IMAGINE ID team directly by email on [email protected] or telephone 01223 254631. We are very happy to answer any questions or queries you have. You can also follow us on Twitter and Facebook or for more information, go to our website, www.imagine-id.org.

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Tania Tirraoro
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Tania Tirraoro

Founder, CEO at Special Needs Jungle
Founder of Special Needs Jungle. Parent of two sons with Asperger Syndrome.
Journalist & author of two novels and a guide to SEN statementing. PR & social media expert. Rare Disease & chronic pain patient advocate.
Tania Tirraoro
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