National Landmark Longitudinal Research
22q11.2 Deletion Syndrome
“Nothing About Us Without Us”
“Small but MASSIVE”
Welcome to the home page of our 22q11.2 Deletion Syndrome programme of research. You are very welcome and many thanks for visiting. This page will grow and develop over the next while (post-July, 2015) as we start to firm-up the research plans and studies that we will work on.or
If you are reading this, then we need you!
Regardless of whether you are someone who is a full-time researcher, a parent, or someone with 22q11.2 Deletion Syndrome, you have knowledge and skills that we need.
All of what we are planning involves some form of research and enquiry. To get to where we want to be in 1 year, 3 years, 5 years, and beyond, we need everyone’s input.
Research can be fun and rewarding! So, whether you have a degree, do marketing, are a teacher, a psychologist, etc. consider getting involved.
There is just one requirement to getting involved: putting your hand in the air and saying that you’re “in”.
So, when I say “we”, who am I talking about?
Together with Anne Lawlor, who heads 22q11 Ireland, we have been chatting with various people who are happy to help us with the variety of studies that we are planning. We are exceptionally fortunate that some of the best researchers in Ireland will be part of our research programme.
In combination with Anne Lawlor, Dr. Aoife O’Brien, Dr. Lucie Corcoran, and Dr. Kate Carr-Fanning, I will be helping to coordinate this landmark national longitudinal research into all aspects of 22q11.2 Deletion Syndrome.
As I mentioned, we have assembled a great team, and it is growing by the day! Why don’t you join us? If any if the following intrigues you and you think that you could help along, get in touch with me.
Some of those involved, and sample research issues, include:
Dr. Lucie Corcoran
Facebook Posts | Bullying | Education & Peer Relationships
Lucie will be coordinating the research that will examine how individuals with 22q experience peer relationships and will also explore whether they are exposed to bullying and victimization problems. Bullying has been widely studied internationally since the 1970s, and recent research has focused on specific aspects of bullying such as homophobic, cyber, racial, and sexual bullying. Findings overwhelmingly indicate the negative potential of involvement in bullying and victimization both short term and long term with regard to outcomes such as academic performance and psychological well being. Whilst there is growing knowledge regarding bullying and victimization amongst many sectors of the population, there is a need to better understand peer relationships of children and adolescents with rare disease. The existing body of literature on bullying and victimization can help to inform parents, teachers, psychologists, and young people about how best to counter and protect against bullying with a so-called ‘normative’ / typical population. However, research which examines the same phenomena in a population with 22q can help to highlight if there are unique characteristics associated with this population. The research will seek to explore these issues in separate questions with parents, educators, children, young people, and adults with 22q, so as to better understand the knowledge, attitudes, perceptions, and experiences regarding bullying and victimization problems. The study will examine the following research questions:
- How do individuals with 22q experience peer relationships / friendships?
- Do the individuals with 22q commonly experience victimization?
- Are those with 22q commonly involved in bullying others?
- Do parents and educators report a negative / positive / both positive and negative perception of peer relationships among this population?
- Is there a need for different prevention / intervention approaches with this population.
- Given the diverse developmental differences among the 22q population, is it possible to identify patterns in peer relationships?
These are just some of the questions that will guide Lucie’s research project. If you think that you have some skills or interest in helping with this project, please do let us know and we would be delighted to have you get involved.
Dr. Aoife O’Brien
Exploring the Concept of Loss
Aoife has developed an international knowledge of the theories and research related to bereavement and grief. Of great interest to our research programme, Aoife has a substantial knowledge of how this issue is being dealt with in the Irish education context. Whilst we often think of bereavement and grief as only applicable to when a significant human relationship ends, we can often see the same processes in other life experiences. For example, the same processes can happen when a family pet dies, when we lose our job, or when a relationship breaks down, etc.. That is, we might experience our “assumptive world” shattering, or we might experience feelings of denial, anger, depression, or acceptance. Whilst all of these are very normal experiences that can happen through bereavement and loss of a child or partner, they can also happen when we receive the news that a child has been diagnosed with a rare disease.
Aoife will be able to use the concepts to explore, for example:
• How was information regarding diagnosis “delivered” to the individual or parents?
• What were the important issues regarding how schools and educators dealt with this new information?
• Do educators need training in order to provide support to families and pupils who have a diagnosis of 22q?
• What provisions are in place in Irish schools to support pupils with 22q?
• What kind of reactions to peers and their parents have to pupils who have 22q?
• What can we do to create understanding and collegiality between schools and families?
These are just some of the questions that will guide Aoife’s research project. If you think that you have some skills or interest in helping with this project, please do let us know and we would be delighted to have you get involved.
Dr. Kate Carr-Fanning
ADHD / ASD and “Voice” | Family Interviews
Kate is one of those rare academics and psychologists who feels equally at home in both research and advocacy settings. Kate sits on the Board of ADHD Europe and is Deputy Chair of HADD (the national support group for ADHD).
Kate’s knowledge of ADHD is immense, and she has developed new methodological approaches to exploring issues like ADHD from the perspective of the young person. Working within the educational research tradition of “voice”, Kate’s research and practical work very much illuminates the positive benefits of what “inclusion” really is. In the words of a conference held recently by colleagues in the School of Education, Kate’s approach is very definitely “Nothing about us, without us”.
So, Kate will provide the subject and practical expertise that we need in relation to ADHD. Kate will also work closely with me in terms of the initial family interviews and the establishment of the longitudinal dataset. This dataset will grow and develop as the research grows and develops, and will be critical in terms of underpinning the central arguments that 22q Ireland and everyone else is trying to have listened to. The dataset will include data that will be wide and varied – from our geneticists to our family history’s, to educational and social issues, to medical and mental health issues.
Psycho-educational Assessment | Advocacy | Transition Planning
Alison is a psychologist and educator who is held in high esteem by all colleagues – both in her previous work with the Disability Service in TCD, and now in terms of her consultancy work and successful business. Alison’s many years of direct experience will help us all at multiple levels.
I have recently published some research with Alison and another colleague who will be involved in the research programme – Emma Harkin (Educational Psychologist). The research explored how higher education institutions in Ireland test individuals who present to Disability Services. We found that there was no common standard or approach to assessment or reporting. This is not acceptable.
We will seek to replicate this research in relation to the psycho-educational assessment of children and young people with 22q in the educational system.
The importance of this project is that it will help to determine the most appropriate manner in which to test children and young people with 22q – i.e, variables to test, instrument selection, administration protocols, reporting templates (1 x full technical report, 1 x “plain English” report).
The research will also explore “transition planning” in terms of how best to plan for and support our children and young people. Alison has developed unique approaches to transition planning, and her insights will be much welcomed by us all. Indeed, Alison is happy to act as a consultant to anyone who wishes to make those vital educational and personal transitions a real success.
Just following from the point above, Alison will also be available as a consultant to anyone who would like her help with advocacy issues. As we all know, there are not only systems and policies to navigate, but also various meetings with professionals – e.g., the early intervention team (psychology, social work, speech and language, physiotherapy, occupational therapy), paediatricians, various medical professionals, schools, etc. Alison would be able to coach interested individuals or families in relation to how to navigate these issues – indeed, she would be happy to act as a representative for such meetings.
Mathematics Education | Autism
Carol-Ann O’Síoráin is a PhD candidate in the School of Education at Trinity College, Dublin. Carol-Ann is a Montessori and primary school trained teacher with experience of teaching pupils with a variety of special educational needs. Carol-Ann’s research interests and areas of expertise include: teaching and learning for pupils with autism and other syndromes, inclusive special education, early childhood education and care, teacher education, and literacy and numeracy. Carol-Ann will research the professional development needs of teachers in mainstream primary school relating to knowledge of 22q, in particular she will focus on the use of hand-eye movements to support mathematical concept development for pupils with language and communication difficulties.
Professor Gloria Kirwan
Professor Gloria Kirwan is a registered social worker and is currently Asst Professor of Social Work at Trinity College Dublin, where she is involved in the education of social work students. Gloria’s research in recent years has focused on documenting and highlighting the experiences of people who live with a disability. Gloria will work as part of the research team to learn from individuals with 22q, and their families, about their interactions with services, and the forms of support and assistance that they regard as important or useful. Gloria’s research and knowledge of the social profession in Ireland (and internationally) will be highly relevant for the future education of the many professional disciplines who are involved in developing and delivering services to individuals with 22q and their families.
“Small but MASSIVE”
I have always admired the strapline of “Small But MASSIVE” and first encountered it when I saw it being used by a great musical talent from the South Derry area of Northern Ireland where I am from. I knew Paddy Glasgow when I was a schoolboy and starting that period of adolescence where music becomes the soundtrack to your understanding of life.
As much as myself and my counterparts thought that we knew about music, our knowledge was very definitely in the minor league compared to Paddy Glasgow. To me, it seemed that Paddy was born “hard-wired” for music, and I am so very happy and proud of the success that Paddy has enjoyed.
Just like outdoor music festivals have grown in size and scale, with outrageous prices and diminished music quality, Paddy started the “Glasgowbury” music festival in his native Draperstown. Now, to be honest, many people would rightly wonder why a music festival in the “back end of nowhere” could be successful, but I am convinced that Paddy’s integrity towards music and people have allowed Glasgowbury to flourish and grow beyond what was first envisaged.
I am more than happy here to be able to recognise Paddy Glasgow’s great contribution to music in Northern Ireland. I also extend a very grateful thanks to Paddy, and all associated with him, for the title of this national landmark research programme into 22q.
“Small but MASSIVE”
Thanks Paddy 🙂