Fragile X Syndrome
Fragile X syndrome, or Martin-Bell syndrome, is a genetic syndrome which results in a spectrum of characteristic physical, intellectual, emotional and behavioural features which range from severe to mild in manifestation. Fragile X is a family of genetic conditions that can impact on the development of individuals in various ways. These conditions are related in that they are all caused by changes in the FMR1 gene and are categorised into three distinct groups:
- Fragile X Syndrome – the most common cause of inherited mental impairment. This can range from learning disabilities to more severe cognitive or intellectual disabilities. It is the most commonly known cause of autism or ‘autistic-like’ conditions. Symptoms can also include characteristic physical and behavioural features and delay in speech and language development.
- Fragile X-associated tremor/ataxia Syndrome – a condition which affects balance muscle tremor and memory in some older male gene carriers.
- Fragile X-associated primary ovarian insufficiency – a problem with ovarian function that can lead to infertility and early menopause in some female gene carriers.
Fragile X can be passed on genetically within families, and is particularly common in a more pronounced form in boys. This leads to speech and language delay and may be the first indicator to a parent that there is an underlying problem with the child’s development.
Speech and language difficulties in Fragile X
Speech and language development is directly affected by the physical, cognitive and sensory-motor characteristics of each individual. Because of the wide variation of symptoms and stages of the condition within children (particularly boys) with Fragile X, generalisations regarding the speech and language development of children affected by the syndrome cannot be made and individual therapy treatment has to be tailored to each individual’s requirements. Most boys with Fragile X do learn to speak, although the use of augmentative communication devices such as pictures, sign language or computerised boards may be beneficial in younger children’s development. For girls with Fragile X, language and speech may be almost normal in development, with no particular weaknesses in articulation, semantics or syntax. Where girls with the syndrome may be weaker is in the area of conversational skills or pragmatics.
How Verbal Behaviour can help?
Intervention at an early age can counter the longer term effects of speech and language difficulties in children with Fragile X Syndrome. Because of the difficulties in conversational skills, a specialist in Verbal Behaviour can identify particular oral-motor, attention and behavioural characteristics and provide both the learner and their family with a multidisciplinary approach that tackles all aspects of the challenges faced. This can also prevent the development of further anxieties and shyness preventing the child from interacting within their social groups, allowing them to communicate more freely and express themselves with greater confidence.
At VBC, we target learning and behaviour rather than dealing with generic definitions of conditions. This allows us to not only give full support to the learner and their family, but also tailor a programme of therapy designed to help each child fulfil their potential. For further information on this and our full range of services,
contact us in confidence for details.