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!
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.
Exciting New Research in Autism Launched Today
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
Sleep: A New Cerebra Guide for Parents
A new guide for parents has been developed by researchers at the Cerebra Centre for Neurodevelopmental Disorders, and the Cerebra sleep team. This guide has been developed to help parents and carers understand the nature of sleep problems in children with intellectual disability and what can be done to improve sleep. Part one describes common sleep problems in individuals with intellectual disability and how these sleep problems are assessed. Part two gives a brief overview of sleep problems in specific genetic syndromes. Part three outlines some strategies which may help to reduce or improve sleep problems. Read the full guide here or download this PDF version
Autism Spectrum Disorder - Kleefstra Syndrome
In August 2015, members of the Cerebra Centre for Neurodevelopmental Disorders and the Kleefstra Syndrome Support Group (led by Fiona & Chris Heslehurst) teamed up with families at the Kleefstra syndrome conference to share parents' experiences of their children with Kleefstra syndrome. In this final video, parents describe their experiences of some of the characteristics of Autism Spectrum Disorder. Please note: not all of the children seen or described in the video have a diagnosis of Autism Spectrum Disorder, but they show some of the associated characteristics described below. https://www.youtube.com/watch?v=S2ZTSQ3Khnw Many children with Kleefstra Syndrome show behaviours which are described as characteristic of Autism Spectrum Disorder, including: • Poor or unusual social interaction skills • Delayed development or difficulties in verbal and non-verbal (gestures, pointing, showing etc.) communication • The presence of repetitive behaviours The severity of ASD experienced by individuals with Kleefstra Syndrome varies greatly. Some individuals will exhibit repetitive behaviours and difficulty in social situations while others are reported to be very sociable. Much more research is needed in this area. For more information...
Challenging Behaviour in Kleefstra Syndrome
In August 2015, members of the Cerebra Centre for Neurodevelopmental Disorders and the Kleefstra Syndrome Support Group (led...
Mood - Kleefstra Syndrome
Last year at the Kleefstra Syndrome Support Group conference, researchers from the Cerebra Centre for Neurodevelopmental Disorders asked parents of children with Keefstra syndrome to share their experiences of their child's mood. Here’s what they said.... https://www.youtube.com/watch?v=oWnIWoIvTZg Individuals with Kleefstra syndrome often experience mood swings, especially during puberty. There is also some preliminary evidence that mood, interest and pleasure may decrease with age in Kleefstra syndrome; however, this is based on a very small number of individuals and these findings are yet to be published in a scientific journal. The Economic and Social Research Council (ESRC) provided funding for these films in collaboration with the University of Birmingham, Cerebra, and UNIQUE. You can also watch a short film of parent introductions for children with Kleefstra Syndrome, and short films about social skills and communication and Autism Spectrum Disorder in Kleefstra syndrome. Keep an eye out for updates about the upcoming 2017 Kleefstra Family Conference on kleefstra.org.
Sociability - Kleefstra Syndrome
Last year at the Kleefstra Syndrome Support Group conference, researchers from the Cerebra Centre for Neurodevelopmental Disorders asked parents of children with Keefstra syndrome to share their experiences of their child's sociability. You can watch what families said below. https://www.youtube.com/watch?v=uQ0npNyyr6g Some individuals with Kleefstra syndrome are reported to enjoy social interactions, while others are reported to find these interactions more difficult. Many children with Kleefstra syndrome appear to prefer adult company over interacting with other children. This may be because adults help structure the social interaction, which helps the person with Kleefstra syndrome communicate their needs. Parents often describe children with Kleefstra syndrome as having little or no stranger anxiety. While friendliness is clearly a strength of many children with Kleefstra syndrome, parents and professionals may want to work with a young a person with Kleefstra syndrome to help the person develop a script, or a simple set of rules, around how to keep themselves safe around strangers. Developing rules around social situations may be important as the person with Kleefstra...
Communication - Kleefstra syndrome
In August 2015, members of the Cerebra Centre for Neurodevelopmental Disorders and the Kleefstra Syndrome...
In April 2015, the Cerebra Centra for Neurodevelopmental Disorders (University of Birmingham) and...
The Benefits of Communication Passports
https://www.youtube.com/watch?v=vsLJS8uGgpY Research has shown that many behaviours that challenge are associated with communication difficulties. ...
New perspectives on understanding challenging behaviour
Some individuals with intellectual disabilities can show behaviours such as self-injurious behaviour and aggression...