Mongolism/Down Syndrome

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Mongolism/Down Syndrome

Down syndrome, also known as Trisomy 21, is a genetic disorder that occurs when there is an extra copy of chromosome 21. This extra genetic material affects the normal physical and cognitive development of the affected individual, leading to various physical and intellectual disabilities.

 

People with Down syndrome may have distinctive physical features such as a flattened facial profile, almond-shaped eyes that slant upward, a short neck, and small stature. They may also have certain health conditions such as heart defects, hearing and vision problems, and a higher risk of developing certain medical conditions like thyroid disorders, leukaemia, and Alzheimer’s disease.

 

Intellectual disability is a common feature of Down syndrome, with individuals varying in their abilities and learning styles. Many people with Down syndrome have mild to moderate intellectual disability, but some may have more severe impairment.

 

Early intervention and educational support can greatly improve the quality of life for individuals with the condition. With proper care and support, people with Down syndrome can lead fulfilling and productive lives.

 

According to a study published in the Indian Journal of Paediatrics, the prevalence of Down syndrome in India is estimated to be around 1 in 800 live births. This estimate is based on studies conducted in various regions of the country and may vary depending on factors such as geographic location, socioeconomic status, and access to healthcare.

 

It is important to note that due to the lack of awareness and access to healthcare in some parts of the country, many cases of Down syndrome may go undiagnosed or misdiagnosed. Therefore, the actual prevalence of Down syndrome in India may be higher than the reported estimates.

 

Causes:

 

Down syndrome is caused by an extra copy of chromosome 21, which occurs either during the formation of the egg or sperm, or during fertilization. The extra genetic material affects the normal development of the individual, leading to the characteristic features of Down syndrome.

There are three types of Down syndrome:

  • Trisomy 21: This is the most common form of Down syndrome, accounting for about 95% of cases. In this type, there is an extra copy of chromosome 21 in every cell of the body. This extra genetic material disrupts normal development and causes the characteristic features of Down syndrome.
  • Translocation Down syndrome: This type of Down syndrome occurs when a part of chromosome 21 breaks off during cell division and attaches to another chromosome. Although the total number of chromosomes is normal, the extra genetic material from chromosome 21 can still disrupt normal development.
  • Mosaicism: This is the rarest form of Down syndrome, accounting for about 1% of cases. In this type, there is a mixture of cells, some with the usual number of chromosomes and others with an extra copy of chromosome 21. The severity of the condition can vary depending on the percentage of cells with the extra chromosome.

The exact cause of the extra copy of chromosome 21 is not known, but it is believed to be a random event that occurs during cell division. However, certain factors such as advanced maternal age (35 years or older) can increase the risk of having a child with Down syndrome.

 

Symptoms:

 

The symptoms of Down syndrome can vary in severity, and not all individuals with Down syndrome exhibit all of the symptoms. The most common symptoms of Down syndrome include:

  • Physical features: People with Down syndrome often have distinctive physical features such as a flattened facial profile, almond-shaped eyes that slant upward, a short neck, small stature, and a single crease in the palm of the hand.
  • Intellectual disability: Intellectual disability is a common feature of Down syndrome. People with Down syndrome may have mild to moderate intellectual disability, but some may have more severe impairment.
  • Developmental delays: People with Down syndrome may have delays in reaching developmental milestones such as walking, talking, and self-care skills.
  • Speech and language difficulties: Many people with Down syndrome have speech and language difficulties due to the physical structure of their mouth, tongue, and throat.
  • Weak muscle tone: People with Down syndrome may have weak muscle tone, which can affect their ability to sit, stand, and walk.
  • Health problems: People with Down syndrome have an increased risk of developing certain health problems such as heart defects, hearing and vision problems, respiratory infections, and gastrointestinal issues.
  • Behavioural and emotional issues: People with Down syndrome may have behavioural and emotional issues such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD).

 

Complications:

 

The symptoms of Down syndrome can vary in severity, and not all individuals with Down syndrome exhibit all of the symptoms. The most common symptoms of Down syndrome include:

  • Physical features: People with Down syndrome often have distinctive physical features such as a flattened facial profile, almond-shaped eyes that slant upward, a short neck, small stature, and a single crease in the palm of the hand.
  • Intellectual disability: Intellectual disability is a common feature of Down syndrome. People with Down syndrome may have mild to moderate intellectual disability, but some may have more severe impairment.
  • Developmental delays: People with Down syndrome may have delays in reaching developmental milestones such as walking, talking, and self-care skills.
  • Speech and language difficulties: Many people with Down syndrome have speech and language difficulties due to the physical structure of their mouth, tongue, and throat.
  • Weak muscle tone: People with Down syndrome may have weak muscle tone, which can affect their ability to sit, stand, and walk.
  • Health problems: People with Down syndrome have an increased risk of developing certain health problems such as heart defects, hearing and vision problems, respiratory infections, and gastrointestinal issues.
  • Behavioural and emotional issues: People with Down syndrome may have behavioural and emotional issues such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD).

Role of Neurotherapy:

  • Individuals with Down syndrome have an altered metabolism, which can result in various health complications. The altered metabolism is primarily due to the presence of an extra copy of chromosome 21, which contains many genes involved in metabolic processes. Some of the ways in which metabolism is affected in Down syndrome include:
    • Slower metabolism: Individuals with Down syndrome have a slower metabolism than those without the condition. This can make it more difficult for them to maintain a healthy weight and can increase their risk of developing obesity.
    • Impaired glucose metabolism: People with Down syndrome have an increased risk of impaired glucose metabolism, which can lead to type 2 diabetes.
    • Abnormal lipid metabolism: Individuals with Down syndrome have abnormal lipid metabolism, which can result in high levels of cholesterol and triglycerides in the blood. This can increase their risk of developing heart disease.
    • Altered amino acid metabolism: People with Down syndrome have altered amino acid metabolism, which can result in an increased risk of developing certain health problems such as celiac disease.
    • Reduced antioxidant activity: Individuals with Down syndrome have reduced antioxidant activity, which can make them more susceptible to oxidative stress and the resulting damage to cells and tissues.

These metabolic changes can affect various systems in the body, leading to an increased risk of various health complications. However, with the help of neurotherapy, many of these complications can be managed or treated, improving the quality of life for individuals with Down syndrome.

  • Individuals with Down syndrome may experience reduced oxygen supply to their tissues, which can contribute to various health complications. Some of the factors that contribute to reduced oxygen supply in Down syndrome include:
    • Respiratory problems: Individuals with Down syndrome may have a narrow airway, weak respiratory muscles, and a reduced ability to clear mucus from the lungs, which can result in respiratory problems such as obstructive sleep apnoea, pneumonia, and bronchitis. These respiratory problems can reduce the amount of oxygen that reaches the body’s tissues.
    • Cardiovascular problems: People with Down syndrome have an increased risk of developing cardiovascular problems such as congenital heart defects, which can impair the heart’s ability to pump blood effectively and deliver oxygen to the body’s tissues.
    • Reduced blood flow: Individuals with Down syndrome may have reduced blood flow due to various factors such as abnormal blood vessels, increased blood viscosity, and impaired vascular reactivity. This can result in reduced oxygen supply to the body’s tissues.

The reduced oxygen supply can contribute to various health complications such as developmental delays, intellectual disability, and cognitive impairment. However, Oxygen treatment in neurotherapy help to increase the amount of oxygen that reaches the body’s tissues.

  • Down syndrome is a genetic disorder, for which a special set of genes treatment is given to improve the quality of life.
  • Neurotherapy postulates that elevated blood pressure in pregnant women may have negative effects on foetal development, potentially resulting in Down syndrome or other genetic disorders. To address this, heparin treatment is often administered.
  • Individuals with Down syndrome often exhibit cognitive impairments and developmental delays, which can range from mild to severe. So, neurotherapy enhance the brain activity in order to improve the associated symptoms.