Fragile X Syndrome

 

 What is Fragile X Syndrome? 

Fragile X syndrome is a genetic disorder that is caused by abnormalities on the X chromosome. It affects about 1 in 3600 males and 1 in 4000 females. This disorder is the most common genetic basis for autism and intellectual disability. The characteristics of Fragile X Syndrome are typically less prominent in females than males, because females usually possess another unaffected X chromosome whereas males do not.

What are the symptoms of Fragile X Syndrome?

The symptoms of Fragile X Syndrome fall broadly into 3 categories: physical, communication, and psychological:

Physical:

Note: these features are seen more commonly in males than females, and may not be present.

  • Prominent ears.
  • Elongated appearance to the face caused by a high forehead and long jaw. This may not be prominent until puberty.
  • Flat feet.
  • Low muscle tone.
  • Large testicles in males after puberty.
  • Smooth skin.
  • Vision impairments which may cause a squint or a ‘lazy eye’.
  • Seizures.
Communication:
  • Repeatedly returning to a topic of conversation or repeating certain phrases.
  • Fast speech that is hard to understand
  • Echoing other’s words (echolalia)
  • Problems with expressive language
Psychological:
  • Learning disabilities, this may range from a mild to severe impairment.
  • Anxiety.
  • ADHD.
  • Autism or autistic symptoms such as obsessions with a particular topic and difficulty coping where there are changes in routine
  • Hypersensitivity to noise, lights and tactile stimulation.
  • Poor concentration
  • In adulthood, individuals with Fragile X syndrome may find deficits of working memory to be particularly problematic

 Treatment of Fragile X syndrome 

Unfortunately there are no known cures of Fragile X syndrome at this stage. However, a range of psychological, allied health and possibly medical treatments may vastly improve outcomes for children with this disorder.

Psychological Interventions

Psychological interventions such as cognitive behaviour therapy (CBT) may be useful in assisting the child to overcome some of the psychological issues that are associated with Fragile X syndrome (e.g. anxiety). Research has shown that CBT may also be effective in helping children cope with their hypersensitivity.

In order to address the cognitive deficits which may be present (e.g., problems with working memory, concentration, and other learning difficulties), children may undergo cognitive training which aims to strengthen, and teach children to work around, problematic areas. Here at the SCDC, we have a cognitive training program that can be particualrly tailored to the Fragile X child in order to specifically address their areas of cognitive weakness and specific cognitive profile. Please contact us for more information.

 Medical treatments 

Whilst there is no drug that can cure Fragile X syndrome, medication may be used to assist the child with other symptoms such as anxiety or hyperactivity. See your general practitioner or paediatrician for more details.

Allied health treatments

In order to help resolve issues associated with speech and communication, many children with Fragile X syndrome also see a speech therapist. Occupational therapists may also be consulted to assist the child with developing skills that are required for everyday self-care. If there are issues with vision or lazy eye consulting an optometrist may also be of benefit. To find out what services are available at the SCDC please feel free to contact us.

Tips for parents and teachers

  • As children with fragile X are often upset by changes in routines, ensure that your household or classroom has a structured one. If there are changes to the routine then notify the child in advance.
  • These children are often excellent imitators, so it is important that they have good role models in their environment.
  • Children with Fragile X are often very strong learners visually. Therefore, it may be helpful to present new material in the classroom or at home in a visual format (e.g. with counters, drawing pictures etc).
  • These children are often enthusiastic and eager to participate in conversations and daily activities. However issues with anxiety, distractions and adults anticipating their needs prevent them from doing so. It is important that their environment encourages them to communicate and they are given the opportunities to do so.
  • Giving the child a wide range of language forms to communicate may also help with overcoming communication difficulties. Other methods such as sign language, PECS or pictures may be helpful depending on the level of language issues present.