Autism, the lifelong developmental disability, is at an epidemic level in Ireland, according to Galway-based scientist, Dr Geraldine Leader of NUIG.
However, not enough is known about the causes of the condition or the day-to-day needs of families affected.
That’s why parents of children with autism are now being asked to provide information for a new Irish Autism Research Biobank.
“One in 88 children and one in 54 boys have an autism spectrum disorder worldwide,” says Dr Geraldine Leader, director of the Irish Centre for Autism and Neurodevelopmental Research at NUI Galway.
“These estimates represent more children diagnosed with autism than with diabetes, AIDS, cancer, cerebral palsy, cystic fibrosis, muscular dystrophy and Down's syndrome combined. Every year the autism rate is rising. The new registry is needed to accelerate autism research,” she says.”
The Irish Autism Research Biobank Project (IARB), if it goes ahead, would make research more of a two-way street, Dr Leader believes.
“Families can share their information with researchers and influence the research agenda, while researchers can connect with families and share results with them.
The goal of the IARB would be to improve the lives of those with autism spectrum disorders and their families.”
Collecting data from thousands of people will also provide valuable data that will show exactly how lives of Irish people are being impacted by autism at present.
“We will then also know what supports need to be put in place for the future,” she says.
Autism is a developmental disability that affects the way a person communicates and relates to the world around him. Speech difficulties, ADHD, repetitive behaviour, gastrointestinal and sleeping problems are often present too.
“Those with a diagnosis of autism are likely to have several other medical diagnoses too,” adds Dr Leader, “so it is a challenging condition for the whole family and many are really struggling to cope.”
The data collected would be used for high-impact scientific research, she says.
“What we could achieve would be tremendous. We would be doing major research in an Irish context.”
Several thousand parents are being sought to provide information related to their children with autism for the new registry. The initiative is being led by three bodies:
But exactly why should parents buy into this?
“Because, right now, there are so many answers we don’t have. We don’t know the effect of early intervention on later outcomes versus those who don’t have access to intervention, for example.
Intervention means introducing trained help, e.g. speech therapy to help develop language and learning skills in the child with autism or related rare neurodevelopmental conditions like Fragile X.
“We also haven’t a clue about what’s needed around transitioning either – the period when a child goes from primary to secondary school, for example. That’s a big stress for parents and we need effective planning for these transitions.
“Parents are also often worried about who will care for their child in the future. Right now, there is no overall care plan in place at all for people with autism.”
RISK FACTOR RESEARCH
Risk factors for autism will also be examined if the research goes ahead.
“We don’t know all the causes, but we do know that a mixture of genetic and environmental factors are involved. The database will help us find out more by increasing the breadth of the research.”
She points out that, in Scandanavia, for instance, they have these kinds of databases for all their health problems.
“This allows them to answer the really serious risk-factor questions. Small studies on autism are going on in Ireland already, but we need more. We look forward to seeing parents at the consultation meetings in January. We want parents to be partners in this project,” she says.
The findings from these regional consultation meetings will be presented on the 4 April, 2014 – World Autism Day.”
Parents of children with autism will be asked to provide detailed information about their child, along with DNA samples, typically from blood or saliva.
These samples will be housed in a safe repository that can be accessed by autism researchers.
“Biobanks exist all over the world for many different kinds of conditions,” says Professor Louise Gallagher of TCD, another of the project leaders.
“Biobanks are used to increase the power of research, to better understand the causes and develop new treatments.
The future biobank research would look to see if there are changes in DNA (in people with autism), changes that alter the way proteins work in the brain, for example.”
But what about security and privacy issues?
“Data protection is vital and protecting the information would be paramount,” she says.
“Those who give samples will have a special identifier number and there would be very specific consent around what people could use your DNA samples for. Only the people who have permission to use the DNA could access it.”
The issue of private companies, perhaps, having access to the samples for the development of treatment or diagnostic research will also be discussed, she says.
“The feedback we got from a small initial survey that we’ve done was that 94% would be in favour of the databank being used for research purposes, but parents were a bit more circumspect about private companies using the data.
“Only 50% thought that would be beneficial. Again, it’s a question we will be asking people. It may be a case where we would ask people to give different levels of consent. That really depends on the outcome of the consultation process.”
Professor Gallagher, who has experience in developing a public biobank before, says that the person’s name will not be linked to their DNA sample. However, a master record will be kept.
“The reason why you don’t uncouple that information completely is that you might get information back that is very important and that should be fed back to the person,” she states.
“You would then need to be able to go back and tell them something that’s important for their medical health. The master file, if it is held online, would be encrypted and very stringent controls put in place so that nobody could hack into our system and access that information. Data protection is vital.” CL
Dublin mother, June O’Reilly, has three sons. The eldest, seven-year-old Rian, has been diagnosed with Fragile X, a neurodevelopmental disorder related to autism.
She told Irish Country Living why she thinks the database is important: “Since we got Rian’s diagnosis, I’ve been asking myself a lot of questions, like what tests he should be getting and what the outcome will be from early intervention. I’m asking should he be getting more (therapy hours) and should he be on medication.
I think having this database will bring a lot of joined-up thinking between people with neurodevelopmental disorders, their parents and service providers. It will help answer the critical questions and identify issues for future research and clinical practice. I would see that the research, down the line, would help support me as a parent in looking after my child and getting the services I need.”
Would she be put off by being asked for DNA samples?
“There will be procedures put in place for protection of the data. Data protection and anonymity would be vital. The DNA samples (bio material) is needed as it is critical to identify molecular pathways,” she says.
A health registry is a system that:
• Gathers information
• Can monitor disease trends
• Track health service use
• Guide policy decisions and
• Improve the delivery of public health services
• Allow researchers to find families and individuals who would like to take part in clinical trials of new treatments
• Puts the condition under a national spotlight
For details of when and where the consultation meetings will be held in January, keep an eye on www.iarb.ie | See www.autismspeaks.org for more information