Tag Archives: Rare Genetic Conditions

School, bullying and mental health

School. Some of us fondly remember our days in school as ‘some of the best days of our lives’.

School is an important step in all children’s lives and is where most of us spend a significant amount of time throughout our childhood and adolescence. It is a place where we are taught academic skills which can help us achieve and pursue the careers we choose for ourselves later in life. It is also a place where we are encouraged to step outside of our social comfort zone and to socialise with other children and adults outside of our immediate family.

Whilst some people would agree their memories of school are positive, others will remember school as a daily challenge to conquer. The demands put on children when they go to school, whether that be academically or socially are significant. The pressures on students to achieve the highest grades seem to be evermore increasing and throughout life in school, children must continually negotiate their social environment to ‘fit in’ with their peers to make and sustain friendships.

Academic attainment and peer acceptance are both challenges that all children face during their time at school, however school can be a particularly demanding place for children with genomic disorders.

Genomic disorders, such as 22q11.2 deletion syndrome, are caused by changes in a person’s chromosome (their DNA). Genomic disorders are commonly associated with complex physical, developmental and psychiatric problems. Therefore, many children with these conditions present differently to their peers in physical appearance, social skills and their educational and mental health needs.

As such, children with these conditions may be perceived as different from the rest of their peers and may often become ‘easy targets’ of bullying. Additionally, some parents report that their child’s schools do not have the resources or expertise in their child’s condition to accommodate their child’s needs. An unsuitable school environment and bullying are both factors which can contribute to a child’s adverse experience of school.

Adverse experiences in childhood, including bullying, are significantly associated with poor mental health outcomes. Research has also shown that certain genomic disorders increases the risk of developing mental health problems, such as anxiety, Autism Spectrum Disorder, attention-deficit/hyperactivity disorder and psychosis.

However, because not all children diagnosed with these genomic conditions develop mental health conditions, it is believed that both environmental and genetic factors contribute to the increased risk of poor mental health in these children. Therefore, much about the environmental risk factors, including school experiences, that children with genomic conditions encounter remain to be explored in order to understand how mental health conditions develop in this group.

I have just started my PhD project at Cardiff University, in which I will be exploring school experiences of children diagnosed with certain rare genomic disorders to answer the question ‘do adverse school and bullying experiences of children with genomic disorders contribute to their increased risk of developing mental health problems?’

To answer this question, I will be exploring school and bullying experiences that children with genomic disorders encounter and then I will investigate if and how these experiences differ from the experiences of their peers. I will then look at the effect of these experiences on the mental health outcomes of children with genomic disorders.

To explore these areas, I would like to speak to children diagnosed with certain genomic conditions, as well as their parents and teachers to gather an understanding about their experiences of school. For this project to successfully address the areas of interest and concern of parents, I would like these conversations to explore topics and issues that children and parents feel it important to investigate.

Therefore, if you or your child has received a diagnosis of a rare genetic condition, and you have any thoughts about this research, comments for specific topics you think it would be important to investigate, or if you would simply like to share your child’s experiences of school, I would love to hear from you with your suggestions. Additionally, if you would like to get in contact to ask questions about the project, please do.

By understanding the risk factors associated with poor mental health outcomes in children with genomic disorders, we can inform intervention strategies to reduce these risks and ultimately improve children’s outcomes and quality of life.

Thank you for reading and I hope to hear from you!

Lowri

If you would like to get in contact with Lowri to hear about your experiences, please email [email protected].

(Some of the rare genetic conditions Lowri will be exploring for her PhD include: 1q21.1 deletion/duplication, 2p16.3 deletion (NRXN1), 3q29 deletion, 9q34.3 deletion (Kleefstra), 10q23 duplication, 15q11.2 deletion/duplication, 15q13.3 deletion/duplication, 16p11.2 deletion/duplication, 17q12 duplication, 22q11.2 deletion/duplication syndromes).

Cerebra and Cardiff University collaborate to advance support available to families

Hello, I’m Lowri and I’m really happy to be joining Cerebra to work on an exciting and new Welsh Government funded project, as part of a Knowledge Transfer Partnership between us and Cardiff University. Before joining the team, I worked for the National Centre for Mental Health (NCMH). The NCMH is a team based at Cardiff University, and they research the causes of mental health conditions in adults and children. Speaking with parents of children taking part in the study, it was clear that families often feel the level of support is lacking after they receive a diagnosis. This project aims to address this important issue.

We will be working with the Cardiff University Division of Psychological Medicine and Clinical Neurosciences in order to improve the helpfulness of information and the services which families and children living with rare genetic disorders struggle to access. We will be focusing on improving mental health related information available to families.

Rare genetic disorders are caused by changes in a person’s DNA (their chromosomes). These changes vary in size. That means they can either affect a very small part of someone’s DNA, or the changes can be bigger and affect a larger area. Some rare changes to our DNA can lead to serious impacts on our physical health, brain development and affect our mental health too.

These disorders are rare because individually, they are not seen very frequently in the general population. However, if we looked at the whole population altogether, 1 in 17 people in the UK will be affected by at least one of these conditions, that’s 3.5 million people! One of the most common disorders is called 22q11 Deletion Syndrome (also known as DiGeorge Syndrome), with 1 in 2000 new born children being diagnosed. Another, much rarer syndrome is called Kleefstra syndrome, and occurs in less than 300 in the UK.  Cardiff University are currently researching these conditions in order to answer the question often asked by parents: “What does this diagnosis mean for my child, and where can I get help and advice?

Research has shown that people diagnosed with these rare genetic disorders often experience difficulties with their mental health, yet families have trouble finding helpful information and struggle to access mental health and other services for their child. We believe it’s important that everyone can access useful, high quality information about mental health conditions, based on the very best evidence from research.

We aim to work with medical services, other charities, as well as families with lived experiences to get a well-rounded idea of what services currently offer that is really helpful, what is unhelpful, and what people think could be improved. We will also ask what they think about the availability and quality of information about developmental and mental health conditions in children and young people. We hope that doing this will lead to important changes in services in order to equip people with key information and empower families and children to make informed choices that are best for them.

Myself and the rest of the team involved feel very passionate and committed to this project, and hope that it will make positive changes for families in the future.

Young Carer Makes Heartwarming Video Tribute to Brother

Sixteen year-old Eve Hamilton is a courageous young woman who has used her experience as a young carer to her brother Cole to inspire her class mates.

Cole, who is now eleven, was born with a unique gene deletion disorder which means that he has learning difficulties, hypertonia and severe autism. He is unable to talk or understand simple instructions. He finds it difficult to maintain friendships but his sister remains his companion and constant friend through thick and thin.

Eve says of her brother: “I am forever grateful for the life I live and I would not change my brother for the world.”

As well as doing her best to enrich Cole’s life, Eve is a keen advocator for people who are “different”, taking every opportunity she can to educate her peers about Cole’s condition.

The Hamilton family

The Hamilton family

Eve’s mum Kate told us: “Eve, who is in her last year at school, has been delivering a speech to each year group in assembly about her brother and what it’s like to have a member of your family with a disability. She talks about being a young carer and not to judge people by their appearance or how they act and to be more understanding.

It’s a big deal for a teenager to open up her private life to an entire school but she wanted to do it, if it meant she could help other carers to gain strength from knowing they are not alone and to raise awareness of children with disabilities.

The feedback has been astounding and the headmaster is so impressed he wants her to talk to other older groups outside of school.

Lots of children now speak to her at school about their problems and are now following her on social media. Even some of the tough lads in her class were reduced to tears! We simply couldn’t be prouder!”

Eve is incredibly humble, not wanting any recognition for the effort she is putting in to educate and inform her classmates. She simply wants to let people know that it is ok to be different and if she can stop even one person from being bullied, Eve is happy.

To help put across her message and to let everyone know how proud she is of Cole every day, Eve put together a heart-warming video tribute to her brother which can be viewed below.

Cerebra was able to help Cole with a grant for speech and language therapy.