Fragile X Syndrome

WHAT IS FRAGILE X SYNDROME (FXS)?

Fragile X Syndrome (FXS), is the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. FXS is the most common known cause of Autism or "Autistic-like" behaviours. Symptoms also can include characteristic, physical and behavioural features and delays in speech and language development.

WHAT CAUSES FRAGILE X SYNDROME?

In 1991, a researcher discovered that Fragile X Syndrome is caused by a mutation (change) in a gene (called FMR-1) located on the X chromosome. Each person has 23 pairs of chromosomes, or 46 individual chromosomes. One pair, referred to as the sex chromosomes (called X and Y), determines whether a person is male or female. Normally, females have two X chromosomes, and males have one X chromosome and one Y chromosome.

A female who inherits one X chromosome with the abnormal FMR-1 gene has, in effect, a spare X with the normal gene.  A female, therefore, tends to be less often affected by Fragile X Syndrome than a male and, if affected, less severely than a male. Males have one X chromosome containing only the abnormal gene, so they are generally more severely affected.

WHAT ARE THE SYMPTOMS OF FRAGILE X SYNDROME?

Children and adults with Fragile X Syndrome have varying degrees of Learning Disabilities and behavioural and emotional problems, including Autistic-like features. Males tend to be more severely affected than females.

Young children with Fragile X Syndrome often have delays in developmental milestones, such as learning how to sit, walk and talk. Affected children may have frequent tantrums and difficulties paying attention. They often are highly anxious and easily overwhelmed by what’s going on around them. They may have speech problems and unusual behaviours, such as hand flapping and hand biting.

While many children with Fragile X Syndrome do not look different from their peers, some have subtle physical signs. These include a long narrow face, large ears, a high arched palate, flat feet and overly flexible joints (especially the fingers). Some of these features do not become obvious until after puberty, when males tend to develop enlarged testicles.

Girls with Fragile X Syndrome have fewer physical signs of the disorder, though some have large ears. While most males with Fragile X Syndrome have serious learning disabilities, only about one-third to one-half of affected females do. However, some affected girls with normal intelligence have learning disabilities involving numeracy, attention difficulties, emotional problems (such as anxiety, depression and shyness) and poor social skills.

DO CHILDREN WITH FRAGILE X SYNDROME HAVE MEDICAL PROBLEMS?

Most children with Fragile X Syndrome do not have serious medical problems and generally have a normal life span. However, about 20 percent develop seizures, which generally can be controlled with medication. Children with Fragile X Syndrome also may be at increased risk of inner ear infections (otitis media), vision problems (including near-sightedness and “lazy eye”) and digestive disorders (including gastro-oesophageal reflux).

HOW IS FRAGILE X SYNDROME TREATED?

There is currently no cure for Fragile X Syndrome. However, an individualised treatment plan, beginning during the preschool years, can help affected children reach their full potential. Most children with Fragile X Syndrome can benefit from treatment by a team of health professionals and special educators. The members of the team may include Speech and Language Therapists, Physiotherapists, Occupational Therapists, Special Educators, Psychologists and Paediatricians.

Some children with Fragile X Syndrome benefit from medications that improve their behavioural symptoms so that they are able to learn better. Some commonly used medications include antidepressants, stimulants (such as Ritalin, used for hyperactivity) and antiseizure drugs (also used for behavioural and mood problems).

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