Fragile X syndrome is the leading known cause of inherited intellectual disability and is often confused with autism. Approximately 1 in 3,600 to 4,000 males and approximately 1 in 4,000 to 6,000 females have the full mutation of Fragile X gene.
The X chromosome in humans contains the FMR1 gene which undergoes mutation and causes Fragile X syndrome.
So, the FMR1 gene is broken in fragile X. the chief function of FMR1 gene is The production of FMR protein. Thus, this mutation impairs the production of FMR protein.
Absence of FMR protein adversely affects the brain development by leading to an inability of the brain cells to communicate with each other, in other words, affecting the synapses and causing intellectual disability.
A child with fragile x may have:
- Developmental delays
- Speech delays
- Learning disability
- Intellectual disability
- Autistic traits
- Sensory processing disorders
Physical features may include:
- A long face
- Protruding ears
- A large forehead
- Prominent jawline
- Hyper flexible joints
- Weak muscle tone
A person with fragile X can get really anxious, even the choice of clothes or tasks such as getting a haircut can make them anxious. The study led by developmental psychologists Jessica Burris and Susan Rivera found that infants and young children with fragile X syndrome, unlike typically developing children, tend to have their attention specifically captured by angry faces rather than happy ones. That sort of “attentional bias” toward angry faces is a pattern associated with anxiety.For the study, the researchers used eye-tracking technology to observe the looking patterns of 47 children with fragile X, aged from 8 months to 5 years old, as they viewed side-by-side images of two faces: angry paired with neutral, happy with neutral, and neutral with neutral.
They found that fragile X children focused more on the angry faces than did typically developing children.
Early intervention is of utmost importance. The combined intervention of counseling and medication can be helpful for the various difficulties which are faced.
An integrated approach includes a range of specialists:
- Developmental paediatrician and GP who are well informed about the symptoms and implications of a diagnosis of Fragile X syndrome
- Psychologist working within the family model, recognising the impact of disability on families across a lifespan and the importance of providing support and education across the individual’s environments of school/day/work program, home and community. The focus should be on a functional, practical approach to support everyday life including communication-behaviour support, social-emotional support and education and family support.
- Occupational therapist to improve behaviour management and learning.
- Speech and language therapist to identify and improve communication ability and provide strategies to develop the individual’s understanding and expression of information and decrease anxiety.
- Physiotherapist to help improve muscle tone, coordination and fine and gross motor skills.
- Special educator to improve learning abilities and settings within the educational or work environment.
- Other medical specialists may include a psychiatrist and neurologist
Some of the strategies recommended to help with psychological issues include:
- Maintain Routine: Having a visual schedule gives structure to the day and keep their anxiety and minimum
- Avoid Forcing eye contact: Demanding eye contact can be triggering and shouldn’t be forced
- Contextual learning: Try to incorporate what child likes in the learning process
- Let them complete: When you ask, “what did you do in the garden today” it might trigger anxiety, instead say, “you went to garden today and…” be sure they will complete the sentence.
- Appreciate them for their every single victory remembering that they are putting in a lot of effort in what they are doing.
Above all, be empathetic!