In this section you can read various research news articles that have important topics relating to rare genetic disorders.
This section is for any parents or professionals who wish to read up to date information about syndromes and to broaden their knowledge.
The articles are ordered with the newest piece of research first and the articles can also be filtered by syndrome by using the filter.
We hope you find the research articles interesting!
Cornelia De Lange
Research summary: Executive functioning in Cornelia de Lange syndrome
Researchers from the University of Birmingham have recently written an accessible summary of a...
Mental health difficulties in Williams, Prader-Willi & fragile X syndromes
A recent paper published in 2019 has described and compared a number of characteristics that are associated with mental health in adolescents and adults with Williams, fragile X and Prader-Willi syndromes. Individuals with these syndromes may experience different types of mental health difficulties. For example, people with fragile X syndrome may be more likely to experience social anxiety disorder than individuals with Prader-Willi or Williams syndrome. Because of this, causes of mental health problems in these syndromes may also differ and understanding the differences can help us understand how best to help individuals. The research showed that there was differences in the characteristics associated with different psychopathological disorders in these syndromes. Poorer adaptive functioning in Prader-Willi syndrome was associated with a higher total mental health score and higher levels of general anxiety and manic/hyperactive behaviours but was not associated with any mental health difficulties in fragile X or Williams syndrome. For Williams syndrome, the presence of health difficulties was associated with emotional difficulties, and auditory sensory processing difficulties...
Video Launch - Challenging Behaviour
We have launched a new video on the factors that lead to challenging behaviour. This video is available at the following link. You can give us feedback on the video by completing the survey that is available under the video. This video was made in partnership with the charity Cerebra.
Mental health difficulties in children with learning disabilities
Overview of the presentation This presentation was delivered by Chris Oliver and Jane Waite (pictured...
Rubinstein-Taybi Syndrome Video Release
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome affecting approximately 1 in 100,000 individuals....
Bardet-Biedl Syndrome Press Release
New Research to Investigate Mental Health in Bardet-Biedl Syndrome (BBS) Researchers...
Cornelia De Lange
Anxiety in Cornelia de Lange syndrome
Presenter: Dr Hayley Crawford Date of presentation: 28th October 2017 Conference or event: Cornelia...
Cornelia De Lange
The Behavioural Phenotype of Cornelia de Lange Syndrome
Presenter: Prof. Chris Oliver Date of presentation: 6th November, 2017 Conference or event: The...
Cri Du Chat
Presenter: Prof. Chris Oliver Date of presentation: 2nd November Conference or event: Fonden Samrådet...
Challenging behaviour in fragile-X syndrome
Presenter: Dr Jane Waite Date of presentation: 24th September 2017 Conference or event: Fragile-X...
Exciting New Research in Autism Launched
A new research study investigating mental health in people with autism is being launched today, 25th October 2017. The study is a collaboration between leading investigators at the Cerebra Centre for Neurodevelopmental Disorders at the University of Birmingham, Aston University, and leading UK autism research charity, Autistica. Mental health problems affect 79% of people with autism, and managing these difficulties is a top priority for people living with autism. However, these dififculties, particularly for those who also have an intellectual disability, have been largely overlooked due to lack of research and support. For more information about this major new UK study click here. Researchers aim to recruit 5,000 autistic people, their families and carers to the 'Discover' research network by the end of 2017. To find out more and get involved please visit: https://www.autistica.org.uk/get-involved/take-part-in-research
New videos posted by The Fragile X Society, UK
Fragile X Society, UK have posted a series of new educational videos about Fragile...