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Charity Registration SC047332 - The Fragile X Society Registered Charity in Scotland
Company registration number 6724061 - Registered office: Rood End House, 6 Stortford Road, Great Dunmow, Essex CM6 1DA

 

Research News 

 

The latest findings from research projects we have supported, as well as research projects from around the world. 

Click here, to find out how you can take part in current research studies. 

What is the project?

An exciting project which aims to develop a new system to help families address rigidity in their child’s routines and expectations. While maintaining the optimal level of structure to minimise

challenging behaviours related to change.

Why are we doing this?

Some children can find it very difficult to manage changes to routines, plans or expectations. These difficulties are common in Prader-Willi syndrome, as well as autism spectrum disorder and Fragile X syndrome, and can result in high levels of anxiety and temper outbursts. To support our children, we often create a structured environment to reduce their exposure to situations that might cause difficulty. However, rigid routines may enhance this anxiety through reinforcing this ‘fear’ of change. Also, having some opportunities to practise having flexibility in routines, may be important for the development of brain process involved in helping children deal with change successfully.

With this project, we are developin...

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). 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.

While 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. Some emerging evidence also suggests that some women with...

Challenging behaviours, such as self-injurious behaviour and aggression, are a significant concern for some people with Fragile X Syndrome, and those who support them. In this talk, Becky Hardiman gives an overview of a series of literature reviews and studies which aimed to better understand these behaviours and their causes.  Specifically, the aim of the studies was to investigate possible characteristics (such as stress-related arousal) associated with Fragile X, which may influence the development of challenging behaviours. You can view the talk as a video via University of Kent's Player  or as a 'podcast' (audio over slides) on YouTube.

If you have any questions about the research or want more information, you can contact Becky via email: r.l.hardiman-39@kent.ac.uk

Thank you to all those who participated in these projects! 

Effective communication forms an important part of a child’s daily life. For example, producing and understanding speech are criticalfor interacting with others. However, more nuanced aspects of communication, such as social communication, or pragmatics,are equally important. Pragmatics refers to an array of skills such as turn-taking during conversations as well as appropriate use and understanding of context, tone, and gestures. Problems with pragmatics can impact the quality of communication and relationships with family, peers, and teachers.

Pragmatic language difficulties characterize children with many neurodevelopmental conditions, including Autism Spectrum Disorder (ASD), Attention-Deficit Hyperactivity Disorder (ADHD), and Fragile X Syndrome (FXS).  What’s more, boys with FXS often have high levels of ASD and / or ADHD symptoms, although not always, and crucially, in a way that differs from one boy with FXS to another. The variable occurrence of these sympto...

 

 Introduction

 

For a long time, it has been known that fragile X syndrome could be passed to future generations from people with smaller variants (premutation) of the fragile X gene (FMR1), sometimes referred to as carriers. However, until quite recently, it was thought that there were no direct effects for carriers of the fragile X premutation. We are now becoming aware that both men and women with a premutation may experience features related to smaller changes in the FMR1 gene. This article focuses on results of a large survey designed to better understand the types of medical and reproductive challenges experienced by girls and women who have a premutation.

 

Why do we want to understand the possible features of being a carrier?

 

Everyone, including fragile X carriers, will experience health challenges during their lifetime. However, we are now learning that there are some features that female carriers may be more likely to experience. Of course, not all carriers have effects: the maj...

School-aged boys with fragile X syndrome (FXS), the leading inherited cause of learning disability, often display marked delays in the ability to use spoken language to communicate with others. These delays in spoken communication can create challenges academically, socially, and in other aspects of daily life. Therefore, in the current pilot study, we aimed to do an initial test of a behavioral intervention designed, to improve the spoken language skills of school aged boys with FXS. The best way to learn language is for a child to be interacted with in a conversational way (simulating a to-and-fro ‘conversation’, even if the child is not yet able to respond with verbal language: also known as “conversational interactions”), which includes high quality verbal input. However, achieving a sustained interaction is often difficult to achieve with boys with FXS given that they often have difficulty paying attention and staying on focus in a conversation, and the fact that they may be very...

What are the early skills which help children to develop language? An important part of learning language, for typically developing children, is watching the way that other people move their mouths whilst they are speaking. For example, researchers found that 6-month-olds who focus on their mother’s mouth tend to develop better language skills later in life, than 6-month-olds who focus on their mother’s eyes (Young, Merin, Rogers, & Ozonoff, 2009).

 

Why would this be the case? Some researchers suggest that looking at speakers’ mouth movements help infants perceive important differences in basic speech sounds (called “phonemes”) such as “b” or “d”. This helps infants to tell the difference between words such as “bad” and “dad”. Looking at a speaker’s mouth may also help an infant to accurately perceive the speech sounds in noisy environments.

 

Given the fact that word learning is seriously delayed in most children with neurodevelopmental disorders, including fragile-X, we wondered whether...

May 9, 2016

 

 

We want you to tell us what it is like to be an adult with fragile X, and what your life is like.

 

 

 

 

 

 

 

 

If you would like to take part, please click on the button below to download the survey, which you can print off or fill in on the computer.

 

 

 

 

 

 

 

Once it is filled in, you can then either post the survey to: Jenn Howard, Tizard Centre, Giles Lane, University of Kent, Canterbury, CT2 7LR

 

 

 

 

 

 

 

 

 

Or email it to: jlh53@kent.ac.uk

 

 

 

 

 

CLICK HERE TO DOWNLOAD THE SURVEY 

 

 

 

 

 

Fragile X syndrome is the most common inherited cause of intellectual disability. People with fragile X syndrome often experience difficulties with cognitive processes, such as understanding, memory, thinking and reasoning. However, the cognitive profile within fragile X syndrome is complex because some abilities are better developed, while other abilities are more impaired. Therefore, it is important to better understand these areas of relative strengths and weaknesses, so that supports can be targeted where needed and that the strengths can be built upon.

 

Fragile X syndrome is characterized by deficits in working memory, which involves the ability to store, manipulate, and retrieve information. However, it is unclear whether the difficulties with working memory in fragile X syndrome are due to a global developmental delay or whether working memory is a specific area of weakness. Working memory is important for learning and social skills. Individuals that have difficulty holding and...

Summary of above video (written by Jane Oliver, Fragile X Society Support Worker)

 

This article gives an overview about what is currently known about (Fragile X Associated Tremor and Ataxia Syndrome) FXTAS, broadly. It is important to note, however, that the severity of its symptoms is different for each individual. 

 

What is FXTAS?

 

FXTAS is a neurological, progressive condition affecting some premutation carriers of fragile X. It was originally described in 2001 by Randi Hagerman who then involved the expertise of, amongst others, Maureen Leehey, a neurologist and movement disorder specialist.

FXTAS was originally described in older men who were premutation carriers. Amongst males, the symptoms of FXTAS are quite variable but the most common features are:

 

  • Movement and balance. Issues may include: ataxia (lack of coordination in walking and, later, movement of limbs), tremor when completing an action (intention tremor), and Parkinsonism (stiffness and rigid movements). FXTAS shares so...

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