Medicines for Fragile X syndrome

What it is

Fragile X syndrome is a genetic condition and the most common inherited cause of learning disability and developmental difficulties. It is caused by a change (mutation) in a gene called FMR1 on the X chromosome, which affects the production of a protein important for brain development. Because it is linked to the X chromosome, it tends to affect boys and men more severely (as they have one X chromosome), while girls and women (with two X chromosomes) are often affected more mildly or variably. The features vary widely, but can include: learning disability or difficulties (ranging from mild to more significant), delays in development and speech, behavioural and emotional features (such as anxiety, difficulties with attention, and features that can overlap with autism), and sometimes characteristic physical features. Some people who carry a smaller change in the gene (a "premutation") do not have fragile X syndrome themselves but can pass it on, and can sometimes develop related conditions later in life. Fragile X is diagnosed with a genetic (DNA) test. While there is no cure, a great deal can be done to support development, learning, communication and wellbeing, and understanding the condition helps families and services provide the right support.

How it is treated

There is no cure for fragile X syndrome, so care focuses on supporting each person's development, learning, communication, behaviour and wellbeing, tailored to their individual needs, and this multidisciplinary support can make a real difference. Early input is valuable and may include: educational support (such as tailored learning support at school and early developmental help); speech and language therapy for communication; occupational therapy (including for sensory needs); and support for behaviour and emotional wellbeing, including managing anxiety and attention difficulties, and support where there are features of autism. Any specific medical issues (which can occur in fragile X) are assessed and managed. Support for the whole family is important, including practical and emotional support and access to relevant services and support organisations. Because fragile X is inherited, genetic counselling is offered to families — to explain the condition and inheritance, discuss implications for other family members (including carriers), and provide information about options for future pregnancies. The reassuring message is that, while fragile X syndrome cannot be cured, tailored support for learning, communication, behaviour and wellbeing — often starting early — can help each person reach their potential, and that genetic counselling supports families in understanding the condition.