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Cardiff University researchers work to understand Deletion Syndrome

Prof Marianne Van den Bree leads the Cardiff University research team. Photo Credit: Cardiff University

By Mustakim Hasnath

The ECHO study conducted within the Division of Psychological Medicine and Clinical Neurosciences, based in the Haydn Ellis Building of the university, has uncovered a previously undetected genetic condition.

The study aims to identify the problems experienced by people who have Deletion Syndrome (22q11.2DS), which is the second most common genetic condition behind Down’s Syndrome.

This makes the condition a relatively common one, with the actual figure of people affected said to be much higher than the statistical estimates of one in between 2,000 and 4,000 – primarily due to undiagnosed cases of the condition.

Professor Marianne van den Bree leads the research team and continues to study individuals around the UK who suffer from the condition, examining children’s development from preschool years, childhood and adolescence, through to adulthood.

Her team is one of the leading sites of the 22 Deletion Syndrome International Brain and Behaviour Consoritum research groups, consisted of various institutions working together to better understand the condition in the hope to find more appropriate support and diagnosis of the condition.

The symptoms of Deletion Syndrome vary from heart conditions and immune problems, to palatal defects and speech delays. Sufferers of Deletion Syndrome, particularly children, are more likely to encounter mental health problems including Autism, ADHD and anxiety disorder, whilst adults have a higher risk of depression and schizophrenia.

Studies conducted by the team have also indicated that affected children throughout both their childhood and adolescent years were more likely to perform worse on tests of attention, planning and reaction time compared to their siblings without deletion.

Speaking exclusively with Gair Rhydd, Professor Marianne van den Bree outlined the common lack of awareness of the condition: “It was important for us to conduct a longitudinal and considerably larger study compared to what has been done before, because of the rarity of this condition and the lack of awareness even clinicians and medical experts have”

The study has been supported by NHS Medical Genetic clinics, Maxappeal, Unique and 22Crew. One of these organisations, Max Appeal, is a charity which supports families affected by 22q and have been encouraging families to take part in the research, as a result of November being 22q Awareness Month.

Three-year-old, Eloise Lee, was among those children who were involved in the study. Eloise has been affected by Deletion Syndrome, such that she has a cleft palate, a congenital heart defect, hearing impairment, ligaments laxity and problems with speech and communication.

Dawn, her mother, commented on the study with a light of hope: “With the support of her many specialists, we hope to receive interventions to support her throughout her life.”

Professor Bree told us the toddler’s case was covered on the BBC’s breakfast programme and since then has received an outpour of support over social media – also adding: “we have data of around 200 individuals’ cases such as hers”.

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