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!
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...
Research Study: Sleep in Children with Angelman Syndrome
Jayne Trickett, Mary Heald and Chris Oliver, researchers from the Cerebra centre of neurodevelopmental...
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
Research into Behaviour, Emotion and Movement in Males with Fragile X Syndrome
Researchers at Coventry University and the Cerebra Centre for Neurodevelopmental Disorders are collaborating to conduct a new research project, in order to find out more about behaviour, emotion and movement in males with Fragile X syndrome. Watch the video below to hear from a person with Fragile X syndrome and his father, who describe their experiences of taking part in the project, and to find out some more information about the research. https://youtu.be/G8lxgT8Xhik Please contact Laura (LXG502@student.bham.ac.uk) or Hayley (firstname.lastname@example.org) if you're interested in taking part in this project.
Cornelia De Lange
Research into Behaviour, Emotion and Movement in Cornelia de Lange Syndrome
Researchers at Coventry University and the University of Birmingham have teamed up to investigate emotion, movement and behaviour in individuals with Cornelia de Lange syndrome. Hear from one parent about their experiences of taking part in this project and find out more about how you can get involved here: https://www.youtube.com/watch?v=ipHzd4I_D7Q&feature=youtu.be Email email@example.com or LXG502@bham.ac.uk or call 0121 414 2855 for more information.
Cornelia De Lange
Summary Article: Anxiety in Cornelia de Lange syndrome
Researchers at the Cerebra Centre have written a guide about anxiety in Cornelia de...
Cornelia De Lange
Anxiety guide is 'Highly Commended' by BMA
Hayley Crawford, Rachel Royston and representatives from Cerebra attended the BMA Patient Information Awards 2016. The Cerebra parent guide on anxiety has been awarded Highly Commended! The guide is written for parents of children with developmental disabilities. Read the guide The guide was produced by Cerebra and was written by Dr Jane Waite and Rachel Royston from the Cerebra Centre for Neurodevelopmental Disorders, and Dr Hayley Crawford from Coventry University.
Research Study: Understanding anxiety and negative emotions in fragile X syndrome
Researchers at the Cerebra Centre for Neurodevelopmental Disorders (CCND), King’s College London and the University of Sydney have launched a new research project, headed by Professor Chris Oliver and Professor Patricia Howlin, to explore emotional difficulties and anxiety in males and females with fragile X syndrome. Why is this research important? Anxiety is a significant and persistent difficulty for many individuals with fragile X syndrome, with rates estimated to be as high as 80%. It is well known that there is individual variation in the presence and severity of anxiety in the typically-developing population. Therefore, it is likely that there are environmental or individual variables which act to influence anxiety development and maintenance in neurodevelopmental disorders. Examining a range of variables which may be associated with anxiety will provide a better understanding of the anxiety profile in fragile X syndrome, and may highlight potential risk/protective factors. The Study The aim of the study is to collect information about anxiety and individual/environmental variables which may act as risk factors...
ASM 17 French Smith-Magenis Support Group Annual Conference
Lucy Wilde and Jayne Trickett attended the ASM 17 French Smith-Magenis support group annual conference in June 2016. Lucy and Jayne presented research from the team at the Cerebra Centre for Neurodevelopmental Disorders considering challenging behaviour that may be experienced by individuals with Smith-Magenis syndrome; focusing on self-injury and aggression. The nature of impulsivity in individuals with SMS was also discussed, alongside the question of autism and describing sleep disturbances. You can view Lucy and Jayne’s slides in French here or alternatively view the English version here
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...