Showing solidarity: Fragile X syndrome
Context
On Saturday, World Fragile X Awareness Day, India Gate in New Delhi was lighted in a beautiful teal colour to raise awareness. A genetic disorder called Fragile X syndrome can lead to emotional, social, and linguistic problems as well as learning challenges.
What is Fragile X Syndrome?
- Genetic condition: The Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene, which is found on the X chromosome, is altered in fragile X syndrome (FXS), a genetic condition. In people with FXS, a repetitive sequence of three DNA bases (CGG) in the FMR1 gene can grow.
- FMR1 Gene and Protein Production: Fragile X Mental Retardation Protein (FMRP), a critical protein produced by the FMR1 gene, is essential for human health. This protein is important for synaptic plasticity and intercellular communication, as well as for brain development.
- FMRP deficiency or absence: People with FXS have a mutation in the FMR1 gene, which results in a lack of or absence of the FMRP protein. The symptoms of the disease are brought on by this insufficiency, which interferes with proper brain growth and operation.
- Severity in different gender: Both men and women are affected by FXS, but men often experience the condition with more severe symptoms. This is because although females have two X chromosomes, males only have one X chromosome and one Y chromosome. Because they have a functional X chromosome, females may receive some compensation.
What are the signs and symptoms of this syndrome?
- Developmental delays: Compared to other children their age, children with FXS may take longer to reach developmental milestones like sitting, walking, or talking.
- Learning Disabilities: FXS is a learning disability that can make it hard to pick up new skills and cause problems in the classroom.
- Social and behavioural issues: Children with FXS may experience anxiety and social difficulties like avoiding eye contact. Additionally, they could have difficulties focusing, flap their hands or exhibit other repeated habits, act impulsively, and be very energetic.
- Intellectual disability: There is normally some level of intellectual disability in FXS-affected males, ranging in severity from mild to severe. A larger range of cognitive capacities, from average intelligence to some degree of intellectual handicap, can be found in females with FXS.
- Autism Spectrum Disorder (ASD): FXS is linked to an increased risk of having ASD, which can further affect social behaviour and communication.
How can we diagnose this syndrome?
- FXS Diagnosis: Fragile X Syndrome (FXS) is a hereditary condition brought on by alterations in the FMR1 gene on the X chromosome. It affects both boys and girls and is the most prevalent genetic cause of intellectual impairments and developmental delays.
- Genetic Testing: A blood test that analyzes a person’s DNA to find any alterations or mutations in the FMR1 gene can be used to diagnose FXS. Either a physician or a genetic counsellor may request this test.
- Understanding difficulties: A child’s intellectual difficulties and behavioural issues can be explained by a diagnosis of FXS. It aids the family and caregivers in comprehending the fundamental reason behind the difficulties the person is experiencing.
What are the treatments available for this syndrome?
There is presently no solution for the genetic disease known as Fragile X syndrome (FXS). However, a variety of therapy options can considerably raise the quality of life for people with FXS while also assisting them in managing behavioural difficulties and learning crucial skills.
- Therapy: To help people with FXS learn to talk, develop their motor skills, and increase their ability to interact with others, speech therapy, occupational therapy, and physical therapy may be helpful.
- Behavioral therapy: This form of treatment has the potential to be successful in addressing behavioural issues and assisting those with FXS in acquiring the necessary social and communication skills.
- Medication: No pharmaceutical can cure FXS, although some medicines can be used to treat certain symptoms or behavioural problems linked to the illness. Qualified healthcare practitioners should recommend and oversee the use of these drugs.
- Support for education: Individualized educational programs and interventions can be designed to meet each person’s needs, highlighting their strengths and assisting them in overcoming obstacles.
- Support and therapy: By offering emotional support and counselling, not only does it benefit those who have FXS, but also aids their family in navigating the difficulties brought on by the condition.
