DOWN SYNDROME AND ITS REHABILITATION

In every cell in the human body there is a nucleus, where genetic material is stored in genes.  Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes.  Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm - although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

Approximately one in every 700 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal  condition. About 6,000 babies with Down syndrome are born in the United States each year. 

 

TYPES :

1.TRISOMY 21 (NONDISJUNCTION)

Down syndrome is usually caused by an error in cell division called "nondisjunction."  Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two.  Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate.  As the embryo develops, the extra chromosome is replicated in every cell of the body.  This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21. 

2.MOSAICISM 

Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47.  Those cells with 47 chromosomes contain an extra chromosome 21. 

Mosaicism is the least common form of Down syndrome and accounts for only about 1% of all cases of Down syndrome.  Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome.  However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess. 

3.TRANSLOCATION 

In translocation, which accounts for about 4% of cases of Down syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.

Body shape and size

• Short stature (height). A child often grows slowly and is shorter than average as an adult.
• Low muscle tone (hypotonia) throughout the body. Belly muscles with low muscle tone can make the stomach stick out.
• A short, wide neck. The neck may have excess fat and skin.
• Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.

  Face shape and features

• Slanted eyes. The doctor may also notice small spots on the colored part of the eye

• A nasal bridge that looks pushed in. The nasal bridge is the flat area between the nose and eyes.
• Small ears. And they may be set low on the head.
• Irregularly shaped mouth and tongue. The child's tongue may partly stick out. The roof of the mouth (palate) may be narrow and high with a downward curve.
• Irregular and crooked teeth. teeth often come in late and not in the same order that other children's teeth come in.

Health problems

Some health problems related to Down syndrome are:
• Intellectual disability. Most children with Down syndrome have mild to moderate cognitive disability.
• Heart problems. About half of the children who have Down syndrome are born with a heart defect.
• Hypothyroidism, celiac disease, and eye conditions.
• Respiratory infections, constipation, hearing problems, or dental problems.
• Depression or behavior problems associated with ADHD or autism. 
• Rehabilitation:
  
  

  

  
  
  
  

  There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations. People with Down syndrome can receive proper care while living at home and in the community.
  
  A child with Down syndrome likely will receive care from a team of health professionals, including, but not limited to, physicians, special educators, physical therapists, speech therapists, occupational therapists, , and social workers. All professionals who interact with children with Down syndrome should provide stimulation and encouragement.
  
  we are doing upcoming therapies to Rehabilitate Down Syndrome kids.
  
  Physiotherapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.
   
  Physiotherapy is important, especially early in a child's life, because physical abilities lay the foundation for other skills. The ability to turn over, crawl, and reach helps infants learn about the world around them and how to interact with it.
  A physical therapist also can help a child with Down syndrome compensate for physical challenges, such as low muscle tone, in ways that avoid long-term problems. For example, a physical therapist might help a child establish an efficient walking pattern, rather than one that might lead to foot pain.
  
  Speech-language therapy can help children with Down syndrome improve their communication skills and use language more effectively.
  
  Occupational therapy helps find ways to adjust everyday tasks and conditions to match a person's needs and abilities.
  
  Emotional and behavioral therapies work to find useful responses to both desirable and undesirable behaviors. Children with Down syndrome may become frustrated because of difficulty communicating, may develop compulsive behaviors, and may have Attention Deficit Hyperactivity Disorder and other mental health issues. These types of therapists try to understand why a child is acting out, create ways and strategies for avoiding or preventing these situations from occurring, and teach better or more positive ways to respond to situations.