Overview: A genetic condition in which a person has a set of mental and physical symptoms as a result of having an extra copy of Chromosome 21 is known as Down syndrome or Trisomy 21. The extra genetic material causes delays in the way a child develops mentally and physically. Down syndrome affects about 1 in every 800 babies born in the United States, and although it cannot be prevented, it can be detected before a child is born. DS is the most common single cause of birth defects,
Causes: It reason Down syndrome occurs is still unknown; however, it is known that the cause behind it is a child’s inheritance of extra genetic material. Rather than accepting 46 chromosomes at the time of conception, the child receives an extra Chromosome 21, having a total of 47 chromosomes.
Symptoms: They symptoms of Down syndrome vary from one person to another; and although people with DS might have some similar physical and mental features, the symptoms can range from mild to severe. Some physical and mental symptoms, as well as health conditions include:
Intellectual and Development Disabillites (IDDs) – causes limits on intellectual abilities and adaptive behaviours
Limited conceptual, social and practical skills
Low IQ
Delayed language development
Slow motor development
Impulsive behavior
Poor judgment
Short attention span
Slow learning
Decreased muscle tone at birth
Excess skin at the nape of the neck
Flattened nose
Separated joints between the bones of the skull (sutures)
Single crease in the palm of the hand
Small ears
Small mouth
Upward slanting eyes
Wide, short hands with short fingers
White spots on the colored part of the eye (Brushfield spots)
Congenital heart disease
Hearing problems
Intestinal problems, such as blocked small bowel or esophagus
Celiac disease
Eye problems, such as cataracts
Thyroid dysfunctions
Skeletal problems
Dementia—similar to Alzheimer’s
Treatment: Unfortunately, there is no cure for Down syndrome. There is no specific treatment for Down syndrome; however, experts recommend enrolling kids with Down syndrome in early-intervention services as soon as possible. Physical, occupational, and speech therapists and early-childhood educators can work with your child to encourage and accelerate development. Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behaviour problems.
Prevention:
In order to prevent Down Syndrome, experts recommend genetic counseling to women looking to have a baby. There is an increased risk of having a child with DS as the woman gets older. Also couples with one child suffering from DS are most likely to have another. Tests such as nuchal translucency ultrasound,amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome.
Overview:
A genetic condition in which a person has a set of mental and physical symptoms as a result of having an extra copy of Chromosome 21 is known as Down syndrome or Trisomy 21. The extra genetic material causes delays in the way a child develops mentally and physically. Down syndrome affects about 1 in every 800 babies born in the United States, and although it cannot be prevented, it can be detected before a child is born. DS is the most common single cause of birth defects,
Causes:
It reason Down syndrome occurs is still unknown; however, it is known that the cause behind it is a child’s inheritance of extra genetic material. Rather than accepting 46 chromosomes at the time of conception, the child receives an extra Chromosome 21, having a total of 47 chromosomes.
Symptoms:
They symptoms of Down syndrome vary from one person to another; and although people with DS might have some similar physical and mental features, the symptoms can range from mild to severe. Some physical and mental symptoms, as well as health conditions include:
Treatment:
Unfortunately, there is no cure for Down syndrome. There is no specific treatment for Down syndrome; however, experts recommend enrolling kids with Down syndrome in early-intervention services as soon as possible. Physical, occupational, and speech therapists and early-childhood educators can work with your child to encourage and accelerate development. Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Occupational therapy may help with feeding and performing tasks. Mental health care can help both parents and the child manage mood or behaviour problems.
Prevention:
In order to prevent Down Syndrome, experts recommend genetic counseling to women looking to have a baby. There is an increased risk of having a child with DS as the woman gets older. Also couples with one child suffering from DS are most likely to have another. Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome.
Sources:http://kidshealth.org/parent/medical/genetic/down_syndrome.html#
http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001992/
http://www.nichd.nih.gov/health/topics/down_syndrome.cfm
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