The Fragile X seminar taking place at the weekend aims to increase awareness of a much ignored inherited syndrome, writes Susan Calnan.
ALTHOUGH THE issue of intellectual disability has attracted increased attention in recent years, one condition which has been virtually ignored is a syndrome known as Fragile X.
A two-day seminar taking place in Dublin on Friday and Saturday aims to increase awareness of the condition, as well as provide practical strategies for parents and professionals dealing with children or adults with Fragile X.
Cited as the most common known cause of inherited intellectual disability, Fragile X is caused by a mutation on a gene on the X chromosome - one of the chains of genetic material which determines inherited characteristics in humans.
Under a microscope, the tip of the X chromosome in someone with the condition appears as if it is about to break off but is not quite separated - it is this "fragile" site on the X chromosome which gives the syndrome its name.
Fragile X can lead to varying degrees of intellectual disability, ranging from mild to severe learning, developmental or behavioural problems, explains Sarah Hayes, a spokeswoman for the Irish Fragile X Society, which seeks to provide support and raise awareness of the condition in Ireland.
"While some of the symptoms mirror those of other intellectual disabilities, such as learning difficulties, problems with speech and language and hyperactivity, there are other symptoms which are quite specific to the condition," says Hayes.
"For instance, a person affected by Fragile X often has an aversion to direct eye contact, may suffer from social anxiety and extreme shyness and become very upset if certain routines or patterns are changed."
A common response seen among those affected by the condition, explains Hayes, is "hyperarousal" - where the person becomes extremely excited, overwhelmed or anxious in particular situations, for example in noisy or crowded environments, or if someone is trying to maintain eye contact with them.
The condition, nevertheless, has symptoms in common with other intellectual disabilities - in particular, autism and attention deficit hyperactivity disorder (ADHD). In fact, some children with autism have tested positive for Fragile X and the Task Force on Autism has even recommended that all children diagnosed with autism also be screened for Fragile X.
Although international statistics estimate that Fragile X affects about one in 4,000 males and one in 8,000 females, the symptoms are usually more severe among boys.
This is due to the mechanics of genetic inheritance, explains Hayes. A child's sex is determined by the pair of chromosomes it inherits: boys have one X and one Y chromosome, while girls have two X chromosomes. If a girl has one "fragile" X chromosome and one normal one, the normal X chromosome seems to be able to compensate for the fragile one.
As boys, on the other hand, have only one X chromosome, this compensating effect does not occur and the symptoms are often more pronounced.
Although Fragile X is easily diagnosed through a simple blood test, which is screened at the National Centre for Medical Genetics in Our Lady's Children's Hospital in Crumlin, a major problem is the lack of awareness of the condition among medical and educational professionals.
One of the speakers at this week's seminar, educational psychologist Colin Reilly, has carried out research on the Fragile X syndrome, interviewing the parents of 34 children in Ireland with the condition.
"My own research and international studies all suggest that there's a huge gap between when parents first express concerns about their child's development and when they eventually receive a diagnosis of Fragile X," says Reilly.
"The majority of parents whom I interviewed for my research found that their GP had never even heard of Fragile X."
A second problem, Reilly underlines, is the lack of specialised training for professionals who may be working with Fragile X children, such as special education teachers and speech and language therapists.
Adopting practical strategies that are specific to the Fragile X syndrome and that create the right environment for the individual affected are paramount, insists Reilly.
"For example, with many intellectual disabilities, a special education teacher will try to increase their one-to-one contact, sitting opposite the child and encouraging eye contact. However, for the Fragile X child, this can create huge anxiety and stress," explains Reilly.
"Therefore, it is extremely important to know what techniques to use with a Fragile X child - such as sitting alongside the child instead of opposite them, or allowing the child to sit at the back or corner of a classroom rather than in the middle," he says.
Along with the debilitating effects that Fragile X can have for those with the condition, the fact that the condition is genetically inherited can cause enormous emotional upset in families, says Reilly.
"Fragile X can be carried through a number of generations in a family but may only manifest itself when the symptoms reach a certain threshold," he explains. "Also, because of the genetic component, more than one child in the same family can be affected: for example, in one of the families that I interviewed, four of the five children were affected by Fragile X."
Receiving a diagnosis is also very upsetting for the parent who is the carrier of the gene and who has passed it on to their child.
"There's a huge need for emotional or therapeutic support for the parent and other family members," says Reilly.
At the same time, the lack of awareness and recognition of the syndrome compounds the challenges already facing parents, as Margaret Nolan, mother of two young boys diagnosed with Fragile X, highlights.
"You realise how much other families take for granted. We sometimes think that if the boys displayed more physical signs of disability, it would be easier for people to understand why we are having behavioural problems and not just stop and stare," says Nolan.
"The most worrying aspect of the condition for us as parents is the 'what if' question - what if one of us was left to manage the boys on our own or, in the worst case scenario, if neither of us were there, who would take care of the boys then?"
The two-day Fragile X seminar will take place on Friday and Saturday at 45 Merrion Square, Dublin 2 and will include an address by US expert Dr Vicki Sudhalter.
For further information phone Sarah Hayes on 087-4112248 or e-mail info@fragilex-ireland.org