Fragile X syndrome

Fragile; X; chromosome; inherit; development; delay; learning; Fragile X; gene; disability; handicap; developmental; DNA ;

Contents

• What causes Fragile X syndrome?
• Developmental disability
• Physical signs
• Behaviour  
• Education
• Resources
• References

Fragile X syndrome causes problems with learning and behaviour. It is the most common inherited cause of intellectual disability. It is found worldwide, in all races and societies.

People with Fragile X syndrome can have a wide range of developmental delays, disabilities and behaviour problems.

There is no cure for Fragile X syndrome, but special support and teaching can help people with the syndrome to peform the best that they can.

Fragile X syndrome can be diagnosed by doing DNA testing which is done on a sample of blood.

What causes Fragile X syndrome?

• Fragile X syndrome is a genetic problem.
• It is called Fragile X because it is caused by a change on an X chromosome. There is a very slender thread of DNA linking the tip of the long arm of the chromosome to the rest of the chromosome, so that when looked at under a microscope it looks as if the tip could easily break off.
• The gene which is affected makes a protein that the body needs for brain development.

Developmental disability

• Developmental disability is the main difficulty that affects people with Fragile X syndrome.
• Some boys can be affected only mildly, but some can have quite severe intellectual disabilities. Most have moderate disability. Girls usually have milder delay.
• Delays in learning, speech and communication skills, gross motor skills (such as walking and running) and fine motor skills (eg holding and using a pencil) can be a part of the developmental disability.

Physical signs

• People affected by Fragile X syndrome are usually healthy and they have a normal life expectancy.
• People with Fragile X syndrome can look just like people who do not have Fragile X, but some will have physical features that are recognised to be part of the syndrome of Fragile X such as
  • a long face,
  • ears which stick out from the head,
  • weakness in tendons (connective tissue weakness) leading to floppy muscle tone and flat feet, and very flexible joints,
  • repeated ear infections
  • vision difficulties including squint, long or short-sightedness
  • larger testicles than usual in a boy before puberty.

Behaviour

People with Fragile X syndrome, girls or boys, may behave differently to other children. The effects include:

• delayed speech,
• anxiety,
• difficulty coping when many things happen at the same time ('sensory overload'),
• autistic like behaviours such as hand-flapping and avoiding eye contact, and difficulty managing changes in routines
• attention problems, like ADD (Attention Deficit Disorder) or ADHD (Attention Deficit Hyper-activity Disorder) including poor concentration, high activity, impulsiveness, restlessness, tantrums and emotional outbursts
• poor social skills
• tantrums and emotional outbursts.

These behaviours tend to be less of a problem for the children when they get older, but some boys with Fragile X syndrome have angry and agressive behaviour when they are teenagers.

Some people with Fragile X syndrome relate well to others, but many will have difficulties with social skills.

Education

Because of their delays in speech and language, and poor attention and concentration, children with Fragile X syndrome may have a lot of difficulty with learning.

The supports that a child with Fragile X syndrome needs are similar to those needed by children with ADHD including: 

• a classroom that is quiet, orderly and low in visual stimulation and noise
• short tasks (eg no more than 15 minutes long) because of the difficulty with maintaining concentration
• consistent routines, with warning ahead of time if a new activity is planned
• time out as a way of calming down or using excess energy, rather than as a punishment. Sending them out for a run may be much more useful than getting them to try to sit still.

Resources

• See our Links page - Disability.

References

The Fragile X Organisation of Australia
http://www.fragilex.org.au/

National Institute of Child Health and Human Development (USA) 'Fragile X syndrome'
http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm

Skellern C, Lennox N, Glass I 'New insights into the genetic basis of intellectual disabilities' Australian Family Physican Vol 29, No 1 January 2000.

The information on this site should not be used as an alternative to professional care. If you have a particular problem, see a doctor, or ring the Parent Helpline on 1300 364 100 (local call cost from anywhere in South Australia).

This topic may use 'he' and 'she' in turn - please change to suit your
child's sex.