We need to hear from you!
What are your experiences with the healthcare system as a parent of a child with 22q11.2 deletion syndrome
We would like to investigate the health care needs and health care experiences of children with the syndrome and their families. This study will involve completing an online survey about your (as a parent) experiences with healthcare providers, and your perceptions of the quality of care received in relation to your child with 22q11DS. If you agree to participate, you will be asked to complete a survey with questions relating to demographic information about your family as well as questions about your child with 22q11DS, specifically related to the healthcare they have received.
To learn more about the study click here!
Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition
For many years now, Kathryn McCabe and I have been exploring social functioning among people with 22q11.2 deletion syndrome together with our colleagues.
It has been reported that many people with 22q11.2 deletion syndrome (22q11DS) have difficulty processing social information including recognising faces and recognising facial expressions of emotions. However, difficulties with visual and attentional processes may play a role in difficulties observed with these social cognitive skills. In this study, which was part of my PhD at the Institute of Psychiatry at King's College in London, I met with 49 children and adolescents with 22q11DS and 30 of their siblings from all over the UK. Over three days we worked our way through a lot of different tasks and some of them focused on how these young people processed faces and objects. With Kathryn's help we analysed the data and found that, compared to their siblings, the young people with 22q11DS had problems with perceptual processes related to how they perceived forms and shapes as well as the recognition of objects from unusual angles and faces. This has important implications for young people with the syndrome and can help explain why some of these young people have problems with social interactions. However, it also indicates that social problems are not uniquely affected but might be a symptom of more global problems with perception. Visual perception and processing, like ocular abnormalities, also impact learning, reading ability and other day-to-day functions. For instance, it might explain some of the problems that young people with the syndrome have when finding their way around. Anecdotally, many young people with the syndrome get lost easily and this could be linked to a poorer ability to recognise familiar landmarks when seen from unusual angles. Another example might be that children with the deletion have difficulty reading words in smaller fonts, but may find it a little easier when they are enlarged and there is more space between letters and words.
If you want to read the study click on the link below;
Citation: McCabe, K. L., Marlin, S., Cooper, G., Morris, R., Schall, U., Murphy, D. G., ... & Campbell, L. E. (2016). Visual perception and processing in children with 22q11. 2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition. Journal of Neurodevelopmental Disorders, 8(1), 30.
Miss Jane Goodwin is a PhD candidate who did her Bachelor of Psychology Honours project at the University of Newcastle in Australia with Dr Linda Campbell from the School of Psychology and in collaboration with colleagues from the Duke University, University of North Carolina and Tel Aviv University. Her Honours research was published and made available online through the Journal of Intellectual Disability Research.
Research suggests children with genetic disorders have better coping skills when they aware of their condition and its heritability. However, there is little research surrounding how parents make the decision to tell their child about their syndrome. We aimed to examine whether there was a relationship between the diagnosis experience (i.e. when parents were told their child had a genetic developmental disability) and the disclosure experience (i.e., when parents told their child about the child’s genetic developmental disability). Parents of children with 22q11.2 deletion syndrome (22q11DS) were compared with a group of parents with children affected with other genetic diagnoses, with a similar age of diagnosis (e.g. fragile X syndrome) and a group where diagnosis generally occurs early (i.e. Down syndrome).
Five hundred and fifty-nine parents and caregivers of children with genetic developmental disorders completed an online survey about their own diagnosis and disclosure experiences. They also answered questions about their coping styles.
Parents reported that the diagnosis experience was negative and often accompanied by a lack of support and appropriate information. Most parents who had a child with 22q11DS or a similar condition had disclosed the diagnosis to their child, whereas only a third of parents who had a child with Down syndrome had. Interestingly, 86% of parents who had a child with Down syndrome felt they had sufficient information to talk to their child compared with less than half of the parents who had a child with 22q11DS or similar conditions. Parents reported disclosing the diagnosis to their child because they did not want to create secrets. They considered the child’s age when disclosing. For parents who had a child with 22q11DS of a similar condition, those who had a negative diagnosis experience were more likely to have a negative disclosure experience.
This study highlights how difficult most parents find the diagnosis experience. Their personal experiences of the diagnosis can have a long-term impact on how well they cope with telling their child about the diagnosis. It is important for clinicians to consider the long-term ramifications of the diagnosis experience and give the parents opportunities to prepare for telling their child about the diagnosis. Further research is needed to explore what type of information would be useful for parents to receive.
Citation: Goodwin, J., Schoch, K., Shashi, V., Hooper, S. R., Morad, O., Zalevsky, M., ... & Campbell, L. E. (2015). A tale worth telling: the impact of the diagnosis experience on disclosure of genetic disorders. Journal of Intellectual Disability Research, 59(5), 474-486.
You Don’t Know Until You Get There”: The Positive and Negative “Lived” Experience of Parenting an Adult Child With 22q11.2 Deletion Syndrome
Yesterday, Jane Goodwin submitted her PhD for examination. The thesis is titled "From general developmental disability to 22q11.2 deletion syndrome: Understanding parental experiences - A mixed methods analysis". It is a great achievement that we would like to celebrate. Jane has written a summary of one of the research papers included in the thesis below. This paper has been accepted for publication in Health Psychology. For a full text of the article, click here.
Parents of children with disabilities are at particular risk of mental health problems and stress compared to family members of healthy children. These challenges continue as the child grows into adulthood. However, positive psychological changes can occur as a result of struggles. Little is known about the experiences of parenting a child with 22q11.2 deletion syndrome (22q11DS), even though it may occur as frequently as 1 in 992 births (Grati et al., 2015). 22q11DS presents challenges for parents because it is a complex genetic syndrome associated with more than 180 features. It is not well-known and thus there is often a delayed diagnosis. Therefore, we aimed to explore the ‘lived’ experience of parents on their journey with 22q11DS.
We interviewed 8 parents who had an adult child with 22q11DS and asked about their experiences, including positive and negative experiences of support; if and how they have changed; and how they expect their future will be influenced by their child and related experiences. The parents had children aged 20 – 29 years. We transcribed all the interviews verbatim, and analysed them using technique known as Interpretative Phenomenological Analysis (IPA). IPA aims to interpret how individuals make sense of their experiences as related to a particular phenomenon. Findings are grouped into “themes” that should give an impression of the people’s lives as related to the subject being studied; in this case, parenting a child with 22q11DS. Overall, we found a theme Losing “I” Finding “self” which overarched six smaller themes:
Prior to the diagnosis, stigma invades the participants’ lives because not knowing leaves them the target of judgement, or victims of indifferent professionals.
“They were very critical as to what I did or what I ate during my pregnancy or what medication I took . . . they make you feel really uncomfortable.”
2. Where is “I”
Participants lose themselves in the management of their child’s health, behaviour, and needs. There is no respite from their caregiving role, and as such, relationships with family and friends change.
“You’ve just got to keep on looking after your family. You do not get time out, you do not get any super answers, or anything like that.”
3. Conflicting loss, grief, and guilt
The participants reflect on the life that could have been without 22q11DS and mourn each milestone that should have passed.
“I think, if you just had these few bits of chromosome, a few bits of DNA, you’d probably be something really extraordinary. And it’s sad.”
4. Angry advocacy
Participants constantly fight the layers of obstruction and lack of awareness of the syndrome to receive the care their child needs.
“There’s a huge range of symptoms . . . so where are we? Dunno . . .What’s the prognosis? Dunno. What causes it? Dunno . . . What do we do now? Dunno. What happens in the long term? Well, a few develop schizophrenia . . . So how can we tell? You cannot. You do not know until you get there.”
5. Pragmatic acceptance
Participants reach an uneasy peace with the ambiguity of their child’s future. They re-evaluate their expectations and learn to celebrate success for their child.
“There’ll be a few more bumps. I’m not too concerned, although I really have no idea what the future brings, so . . . definitely say a lot of Hail Marys . . . it’s got me this far, I’m sure it’ll get me through a few more years.”
6. Finding authenticity and purpose
Participants experience psychological growth; a positive change in psychological functioning, such as finding new meaning. They show empathy, humility, gratitude, and pride as a result of their experiences.
“I’ve had the big transformation. I’m really pleased with that because looking back I do not like the mother I would have been.”
It is important to remember that these findings are not the whole experience, nor are they everyone’s experience. Rather, they give us insight so that we can conduct further research with the aim of improving the experience of parenting a child with 22q11DS. We also hope that our results can enlighten healthcare professionals in buffering against stigma, blame, and self-doubt; and help them to foster psychological well-being in parents who have a child with 22q11DS.
Full citation: “You Don’t Know Until You Get There”: The Positive and Negative “Lived” Experience of Parenting an Adult Child With 22q11.2 Deletion Syndrome. Goodwin, Jane; McCormack, Lynne; Campbell, Linda E.
Health Psychology, Sep 22 , 2016, No Pagination Specified. http://dx.doi.org/10.1037/hea0000415
Hi, I am Dr Linda Campbell. I am an Academic and a Clinical Psychologist. This blog is meant to keep you in the loop about the activities of of our research lab - the FIND Lab.