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 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.
Cornelia De Lange
The Benefits of Communication Passports
Research has shown that many behaviours that challenge are associated with communication difficulties. Interventions...
Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: comparisons and contrasts
Autism Spectrum Disorder is characterised by a triad of impairments which involve persistent deficits...
Neurodevelopmental outcome in Angelman Syndrome: Genotype-phenotype correlations
Angelman syndrome (AS) is a neurogenetic disorder that is characterised by intellectual disability, developmental...
Cornelia De Lange
Pain in children with severe intellectual disability: A Guide for Parents
Cerebra have recently released a new parent guide to help parents of children with severe intellectual and/or communication difficulties to understand how pain may affect their child. This new guide explains the possible causes of pain in children with intellectual disability, presents information about how pain may be shown by children who are unnable to tell us that they are in pain and discusses the effects that untreated pain can have on your child. To download the guide, please visit the Cerebra webpage here.
Fragile X syndrome and Autism Spectrum disorders
Fragile X syndrome is caused by genetic mutation which results in the absence or...
Eating Behavior, Prenatal and Postnatal Growth in Angelman Syndrome
Clinical characteristics of Angelman syndrome include severe intellectual disability, developmental delay and lack of...