That’s right, today we celebrate the mystery of Fragile X. Did you know: (Shamelessly lifted straight from the Hospital for Sick Kids
What is fragile X syndrome?
Fragile X syndrome is an inherited disorder. It can cause hyperactivity, learning problems, and emotional problems. It can also cause mental retardation and autism, although some children with fragile X have normal IQs. This disorder is the most common known cause of inherited mental retardation and affects both males and females.
What is the cause?
Fragile X syndrome is a genetic disorder caused by a mutation (a change in the genetic information) of a specific gene. The parents or other family members did not do anything to cause it. The gene mutation has usually been carried unknowingly for many generations. Both males and female carriers can have a small fragile X mutation (called a premutation) and still be completely normal. The premutation can expand to a larger full mutation when it is passed on to the next generation through a female. It is the full mutation that causes fragile X syndrome. Your child may be the first one in your family with behaviour or development problems, or there may be other relatives who are affected by the fragile X mutation. Your doctor or a genetic counsellor will explain how this gene mutation is passed on in your family and who should be tested for it.
What are the physical, behavioural, and health concerns?
Boys affected by fragile X syndrome often have prominent ears, a large head, a prominent forehead, extra flexible finger joints, a high palate, soft skin, and flat feet. During puberty, boys usually develop large testicles (called macroorchidism) and a somewhat long face. Many of these features are seen in the general population so most of these boys look normal even though they have features of fragile X syndrome.
Girls may also have physical features associated with fragile X syndrome, particularly large or prominent ears, flexible finger joints, and flat feet.
In general, children with fragile X syndrome do not have a lot of medical complications. The health problems they may have include:
frequent ear infections
seizures (occur in about 20% of children and adults with fragile X)
strabismus, a weak eye muscle, occurs in about 30% of children with fragile X
mitral valve prolapse, a heart valve problem, which occurs in about 50% of adults with fragile X
rarely a hernia or joint dislocation
The major problems associated with fragile X syndrome involve behaviour and slow development leading to a lower IQ. The majority of girls with fragile X syndrome show learning problems and a short attention span along with shyness, social anxiety, and moodiness. Approximately 30% of girls with fragile X syndrome are mentally retarded and the majority have significant learning disabilities. The majority of males with fragile X syndrome are mentally retarded, meaning that their IQs are below 70.
Children with fragile X are usually extra sensitive to stimuli in their environment, such as noises or changes in their routine. They are usually anxious and have frequent tantrums.
For most boys and some girls with fragile X, the activity level is high and the attention span is short. Language development is especially slow. Most boys do not talk much by age 3. Unusual behaviours, sometimes termed autistic-like behaviours, commonly develop by 3 years of age. Some of these behaviours are hand flapping, hand biting, poor eye contact, excessive chewing on clothes, and pulling away from touch. These children may ask questions over and over again even after hearing the answer.
Approximately 20% to 35% of children with fragile X have autism. Children with autism have trouble with social interaction, language, and repetitive or ritualistic behaviour.
Strengths of children with fragile X
Children with fragile X syndrome have many strengths, including their social abilities (although shyness is common); a wonderful sense of humour; an excellent memory for people, events, and directions; intense interests; and outstanding imitation skills.
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