Fragile X Syndrome
Information taken from the National Fragile X Foundation, Sarah Scharfenaker, and the Fragile X Association of Australia
WHAT IS FRAGILE X SYNDROME (FXS)?
Fragile X Syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. FXS occurs in more males than females and typically males have more severe forms of FXS.
WHAT ARE THE CHARACTERISTICS OF FXS?
Below you will find some characteristics of FXS. No one individual will have all the features of the syndrome.
- Significant intellectual disabilities that range from moderate to severe
- Large ears
- Long face
- Soft skin
- Frequent ear infections
- Flat feet
- High arched palate
- Social anxiety
- Hand biting
- Hand flapping
- Poor eye contact
- Sensory disorders
- Increased aggression
WHAT CAUSES FXS?
FXS is genetic and is caused by a gene mutation of the FMR1 gene on the X chromosome. The gene switches off production of a protein that is involved in brain development and other functions. An individual may be a carrier of FXS without having the syndrome. This gene mutation often increases when passed from mother to child and down through the generations of a family.
HOW IS SPEECH AND LANGUAGE AFFECTED?
A child with FXS will demonstrate the following:
- Fast rate
- Disordered speech rhythm
- Oral and verbal dyspraxia
- Increased volume
- Pragmatic difficulties
- Phrase and topic perseveration
- Poor abstract reasoning skills
- Auditory, memory, and sequencing difficulties
HOW CAN I HELP MY CHILD AT HOME?
- Avoid giving lengthy or multiple-step directions. Use short instructions that your child can understand.
- Reward and praise any attempts at speech
- Model desired utterances for your child
- Allow for increased processing time when asking questions or giving directions
OUR APPROACH AT KEY THERAPIES:
We will develop an individualized treatment plan for each child based off of his / her current needs. A variety of strategies and techniques will be utilized to address specific goals. A home program will be taught to caregivers to assist with carry-over of skills.