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Have you heard of 22q?

Issues around mental health are becoming part of the national psyche. Whether this is driven by political parties putting a greater emphasis on improving services, or by people feeling more able to talk about their personal experiences of mental health, it is undoubtedly a good thing.

Much of this focus is on more common conditions like depression and anxiety – and in one sense rightly so, as one in six adults has a common mental health problem. But did you knowĀ thatĀ 1 in 10 children haveĀ a diagnosable mental health disorder? It isn’t a nice statistic to have to consider but it needs to be talked about and so do disordersĀ like schizophrenia.

Schizophrenia can be difficult to discuss. The symptoms are varied, wide-reaching and are often misunderstood. ā€˜Prodromalā€™ or, early signs of schizophrenia tend to appear in early-mid adolescence. A child who experiences these symptoms may or may not go on to develop schizophrenia; and it is our job to find out why.

Piecing the puzzle together

Much work has been done to see whether variables such as IQ and communication traits might increase this risk.

At Cardiff University’s MRC Centre for Neuropsychiatric Genetics and Genomics, we work with children and adolescents with rare genetic conditions at an increased risk of developing schizophrenia. We want to understand the developmental and neurobiological pathways in individuals at a high risk for developing schizophrenia to help understanding and treatment.

TheĀ Centre hosts two large research projects, ECHO and IMAGINE ID, that work with children with copy number variants (CNV), or CNV genetic syndromes.Ā These genetic conditions are characterised by changes in DNA, where sections of DNA are either missing or duplicated.

It’s a bit like a puzzle; on average, an individual will have enough pieces of DNA to complete the puzzle, but sometimes some pieces are missing whilst others have pieces left over.

Depending on these factors, this can put children at increased risk of developing psychiatric and developmental disorders.


Children with a genetic syndrome called 22q11.2 deletion syndrome (22q11.2 DS) have a 20-30% increased risk for the development of schizophrenia. It is one of the highest known genetic risk factors for the development of schizophrenia. These individuals also have increased likelihood of ADHD, autism, anxiety disorders, oppositional defiant disorders, and epilepsy and sleep disturbances.

This cocktail of different psychiatric problems is complemented by a myriad of physical problems including heart defects, breathing problems, abnormalities in their muscle and bone structure and cleft palate. This concoction of problems can mean that mental health problems can be exacerbated.

For example, the continued and persistent sleep problems the majority of these individuals suffer from can interact with the mental health problems, making it harder to manage. If there are also physical problems, this could become an explosive mixture of problems.

Support for these families can be limited, with many health professionals not necessarily understanding the problems that they face.

Certain difficulties may get overlooked, with the focus being more on the obvious physical symptoms, rather than with the ā€˜less obviousā€™ mental health problems.

Traditional mental health support systems can sometimes fail these families due to what some consider the added complication of the genetic syndrome.

By working with these families, researching and understanding the difficulties that the mental health problems can impose upon both the child and the family itself, we can better work towards treatments and strategies to help not only these children with rare genetic syndromes, but children generally who are facing mental health problems worldwide.

To read more about the ECHO study or to contact the team visit the MRC Cardiff website.

Don’t forget! It’s Mental Health Awareness Week 2017 and there’s lots of events happening across the UK. Find out more and get involved by visiting the website of the Mental Health Foundation.

With kind thanks to Hayley Moss,Ā Research Manager for the ECHO Study, who also contributed to this blog.Ā 

Hayley Moulding

Hayley is a 3rd year MRC Neuropsychiatric Genetics and Genomics PhD student. She specialises in looking at how sleep problems are related to mental health outcomes in children and adolescents.

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National Centre for Mental Health, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ

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