Fragile X syndrome is a genetic condition that causes developmental problems such as cognitive impairment and learning disabilities or behavioral challenges and other physical challenges. Features common with the Fragile X Syndrome include but may not be limited to an unusually narrow and long face, a very large jaw and ears, flat feet, as well as excessively flexible fingers.
Fragile X syndrome is caused by a defect in the gene located on the X chromosome. This gene is known as FMR1 and the defect on it causes an improper production of protein known as fragile X mental retardation 1. Though the holistic role of this protein is yet to be fully established, it is believed to aid the functionality of the nervous system and a shortage of it, largely causes the Fragile X Syndrome.
Fragile X syndrome (FXS) occurs in both genders; however it is more frequent and severe in male children than in female children. Also, male children are more prone to intellectual disability, though the condition may vary symptoms and severity. Female carriers are more at the risk of early menopause while male carriers are more at the risk of tremor and dementia as they age.
While some children may have some degree of intellectual impairment and learning disability, others may have a normal intelligence. Sometimes, FXS in children may not be apparent at the onset and in some cases, it may not be diagnosed except there is a family member with the condition.
Fragile X Syndrome is actually not a life threatening condition in some cases, though a small number of male children and few female children may suffer seizures. However, children affected by it can largely live a considerable long life and may be free of other critical health concerns, though they are bound to be dependent on other people, the rest of their lives.
Children affected with Fragile X Syndrome commonly have delayed development of speech and language by the time they become toddlers. They are also anxious, impulsive and tend to exhibit hyperactive behaviors or an attention deficit disorder. For some children, there may be features of autism disorder. This then impairs their ability to retain information or instruction, socialize, communicate, channel attention or focus on assignments.
There are certain characteristic features of Fragile X syndrome in male and female children, such as:
- Abnormal physical features such as a very prominent jaw, a large fore head, large testicles in male children, long face, large ears, flat feet, hyper flexibility and disjointed fingers.
- Features of behavioral disorders such as fidgeting, anxiety, impulsion, hand flapping, aggression, sensory disorders and autistic behaviors.
- A considerable or severe level of intellectual impairment and learning disabilities. This is most common in male children.
- Delays in developmental milestones
- Social withdrawal such as inability or disinterest in meeting people, making eye contact or being touched.
- Inability to communicate verbally and non-verbally as well as trouble understanding body language.
- Difficulty sleeping, restlessness and depression
Children with FXS will likely experience certain challenges as they grow .They will be overly dependent on others but with the right kind of support and engagement, as well as social exposure, they can live a productive and purposeful life.