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 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 firstname.lastname@example.org 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...
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...
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...
Smith Magenis Syndrome Awareness Month
November is Smith Magenis Awareness Month, and so parents and siblings of individuals with SMS were asked what they wish people understood about the syndrome. Please click here to view the videos of what they had to say. #AskMeWhatItIs For more information about Smith Magenis Syndrome, please click here.