On World Down Syndrome Day 2023, let us find out some facts about this condition. Down Syndrome is caused by a genetic abnormality that affects the development of the brain and body. This condition can have a range of symptoms and severity, with some individuals having mild symptoms and others having more severe intellectual and physical disabilities.
Down Syndrome, also known as trisomy 21, is a genetic condition that occurs when there is an extra copy of chromosome 21 in a person’s cells. This extra genetic material causes developmental delays and physical characteristics that are unique to individuals with the condition.
While the exact cause of Down syndrome is not fully understood, it is known to occur when there is an error in cell division during fetal development. Down syndrome occurs in approximately 1 in every 700 births worldwide, and there is no known way to prevent it. While the risk of having a child with Down syndrome increases with maternal age, the majority of children with Down syndrome are born to women under the age of 35.
The effects of Down Syndrome can vary from person-to-person, but some common characteristics include a small stature, a flattened facial profile, almond-shaped eyes that slant upward, a single crease across the palm of the hand, and a protruding tongue. Individuals with Down syndrome may also experience intellectual disability, difficulty with language development, and certain medical conditions such as heart defects and gastrointestinal issues.
Behavioural and psychiatric disorders are more common in Down syndrome than typical children. Disruptive behavioural disorders, such as attention-deficit hyperactivity disorder, conduct/oppositional disorder, or aggressive behaviour, were most common.
Autism is a common comorbidity of Down Syndrome, affecting 7 percent of children with Down Syndrome. Some children with Down Syndrome present in the school-aged years with worsening autistic-like features and cognitive decline to the point of dementia, and new-onset insomnia. Adults with Down Syndrome usually develop neuropathological and functional changes typical of Alzheimer disease by the sixth decade of life.
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Seizures developed in 70 to 80 percent of patients. Approximately 13 percent of individuals with Down Syndrome have asymptomatic Atlantoaxial instability, while spinal cord compression due to the disorder affects approximately 2 percent. Patients with symptomatic spinal cord compression may have neck pain, torticollis, gait abnormalities, loss of bowel or bladder control, quadriparesis or quadriplegia and require immediate stabilization.
Living with Down syndrome can present unique challenges, but with the right support and resources, individuals with can lead fulfilling and happy lives. Although there is no known way to prevent Down Syndrome, management of the condition has improved substantially in the past two to three decades. It requires an organized approach, monitoring for associated abnormalities, and prevention of common disorders. Early intervention programs such as speech therapy and occupational therapy can help individuals with Down syndrome develop important skills and reach their full potential.