Written by Clare Melvin
Experiences of women with the Fragile X premutation
Fragile X Syndrome is the most common known inherited cause of learning disabilities, affecting around 1 in 4000 males and 1 in 8000 females. It can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional, and behavioral problems. In addition, approximately 1 in 250 females and 1 in 600 males are carriers of the fragile X pre-mutation.
The Fragile X Society provides support to families affected by fragile X, through providing information about the conditions. They have a fabulous website containing a wide range of information, resources and videos.
It is only fairly recently that research has started focusing on people who have the Fragile X premutation, i.e. individuals who have a smaller expansion of the fragile X gene (FMR1). Ishita Chowdry and Drs White and Moss of the Institute of Cognitive Neuroscience and Cerebra Centre for Neurodevelopmental Disorders have been exploring the experiences of women with the Fragile X permutation.
While it was previously thought that people with the Fragile X premutation were unaffected carriers of the syndrome, recent investigation has led researchers to believe that carriers too might experience certain physiological and psychological symptoms.
The physical effects of the premutation have been previously explored, less is known about how the premutation affects the behavioural traits and mental health of carriers, particularly female carriers.
Existing research in this area tells us that some women with the premutation might be more at risk for various mental health concerns like depression, anxiety and social phobia. A small number of women with the premutation (approximately 5%) also meet criteria for a diagnosis on the autism spectrum. Emerging evidence also suggests that some women with the fragile X premutation might show autistic traits, which are the very subtle characteristics which are otherwise also present in the general population, but which are more frequently observed in individuals with autism and their relatives. This does not necessarily mean that these women with premutation can be diagnosed as autistic, just that they share certain characteristics.
In their recent research, University College London collaborated with colleagues at the University of Birmingham with the aim of gaining a better understanding of the psychological characteristics of the Fragile X premutation in women. They felt it important to focus their investigation on whether the presence of autistic traits and mental health difficulties might relate to women’s experiences of caring for a child with Fragile X Syndrome. Parenting a child with learning difficulties and challenging behaviour may in itself be a cause of stress, anxiety and depression. The study wanted to evaluate whether or not the risk of mental health difficulties or the presence of autistic traits in women with the FX premutation was the same as that reported in mothers of children with other neurodevelopmental disorders. Read more about this exciting and much needed research here.
Concerns over Safeguarding Human Rights in Mental Capacity Act Reforms.
VODG (Voluntary Organisations Disability Group) represents leading voluntary and charity social care disability provider organisations.
The draft legislation of amendments to the Capacity Act for England and Wales seeks to replace the current system known as ‘Deprivation of Liberty Safeguards’ (DoLs). It aims to change the legal safeguards for people who lack capacity to consent to their care or treatment.
The changes are vital to strengthen and streamline an under-funded system, but the draft legislation in its current form is complicated and difficult for providers to deliver.
Amendments in the House of Lords have allayed some fears about conflicts of interest, oversight and new responsibilities for providers relating to the reforms, but significant concerns remain.
Read more about the amendments here and the VODG’s concerns here.
World Autism Awareness Week
The week of January 29th is World Autism Awareness Week. There are many great stories and events on twitter you can follow and also find out great ways to get involved on the National Autistic Society, including taking part in one of the Spectrum Night Walks, contributing to a virtual 7k (running, swimming or cycling!) or holding a Spectrum Bake! World Autism Awareness Week is January 29th but the Autism Awareness week runs April 1-7th April so start thinking about your fundraising ideas and get signed up!
LD in the News.
- This year is the 10th anniversary of the Autism Act. This was a landmark in the battle to improve the lives of autistic adults and their families in England. In her blog, Robyn Steward, an autism consultant, author and ambassador for our charity, looks back on the campaign for the Autism Act and considers what still needs to change.
- My Winter Plan is a booklet made by @OpenDoorsLD for people with #learningdisabilities to plan ahead. Bad weather is lonely and scary – this book will help people with LD remember how to keep safe and not be frightened.
- Powerful report on Restraint and Seclusion in Schools by the Challenging Behaviour Foundation and Positive and Active Behaviour Support Scotland featured on BBC breakfast this morning.
Conferences and Events.
- ‘Belonging and Not Belonging’ – The Social History of Learning Disability (SHLD) have announced that their next Conference will be held at the Open University in Milton Keynes on 16th and 17th July 2019. This year’s conference marks 25 years of the SHLD group, and 50 years of The Open University, so it is a special one! The theme of the conference is Belonging and Not Belonging. You can find some more information about the conference here. You can also watch a short video below of members of the SHLD group talking about the conference.