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
Gestures and communication in Cornelia de Lange syndrome
A new paper has just been published by researchers at the Cerebra Network and...
General
Be Well Checklist
Helping parents, carers and professionals to reduce challenging behaviour and improve the wellbeing of people with severe learning disability and complex needs Research charity Cerebra published the innovative Be-Well Checklist on the 25th January 2022. The checklist is designed to help parents, carers and professionals improve the well-being of people with severe learning disability and complex needs. People with severe learning disability and complex needs need a lot of support in their daily life and often find it hard to tell other people what they need or want, or how they feel. They might also have physical disabilities or problems seeing and hearing as well as some autistic characteristics or a genetic syndrome. When someone has a severe learning disability and complex needs, it can be difficult to know how they are feeling or why they are showing a particular behaviour. Research and clinical experience shows that when it comes to challenging behaviour and well-being, there are important things to consider that are often missed. These are: pain and discomfort,...
General
Research update - anxiety interventions for children with a diagnosis of autism
Researchers at Aston University are working with the Cerebra Network to develop anxiety interventions for autistic children who speak few or no words Download an overview of the project here Download information on the evidence-base for this intervention here
Syndrome Tags
- Angelman 10
- Cornelia de Lange 19
- Cri du Chat 6
- Smith-Magenis 9
- Prader-Willi 6
- Fragile X 16
- Kleefstra 0
- Rubinstein-Taybi 4
- Lowe 0
Cornelia De Lange
Behaviour Across the Lifespan in Cornelia de Lange syndrome
A new review paper has just been published by Dr Laura Groves, Prof. Chris Oliver and Dr Jo Moss. This paper summarises how some features of behaviour, emotion and cognition may change over the lifespan for an individual with CdLS and why this might happen. You can read an accessible summary of this research below. Behaviour Across the Lifespan in Cornelia de Lange syndrome - Groves, Oliver & Moss (2021)
Rubinstein-Taybi
Rubinstein-Taybi Syndrome - Online Event
The UK Rubinstein-Taybi Support Group is hosting an online event on 24th of April 2021 for families of children and adults. Click this post to find out more event details.
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...
Prader-Willi
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...
General
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.
General
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
Rubinstein-Taybi Syndrome Video Release
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome affecting approximately 1 in 100,000 individuals....
General
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...