Edwards Syndrome Research Paper
Chromosomal Disorders
1. Name the condition.
Edwards Syndrome (or Trisomy 18)
2. Outline the chromosomal abnormality.
Trisomy 18, or Edwards syndrome, occurs when a person has a third copy of material from chromosome 18 instead of the usual two copies.
3. What chromosomes are involved?
Chromosome 18 is the only chromosome involved with this disorder.
4. What does it affect?
The majority of children born with Edward 's syndrome appear both fragile and weak; many are underweight. Their heads are unusually small, while the backs of their heads are prominent. Their ears are low-set and malformed, and their mouths and jaws are small. Babies with the syndrome may experience a cleft palate or lip. Their hands are often clenched into …show more content…
fists, with their index finger overlapping their other fingers. Babies with Edward 's syndrome can have clubfeet, as well as toes that may be fused or webbed.
Children with the syndrome can experience problems with their lungs and diaphragm, and blood vessels.
They may present with a number of types of congenital heart disease (e.g. atrial septic defect, ventricular septal defect, or patent ductus arteriosus) Children with the syndrome might have a hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles if they are male.
5. How common is it?
The syndrome occurs in about 1 out of every 5000 births. Edward 's syndrome affects more girls than boys - around 80% of those affected are female. Women older than the age of thirty have a greater risk of bearing a child with the syndrome, although it may also occur with women younger than thirty. It is the second most common chromosomal abnormality, after Down syndrome.
6. How does the condition affect people?
Approximately 5-10% of children with Edward 's syndrome survive beyond their first year of life, requiring treatments that are appropriate for the various and chronic effects that are associated with the syndrome. Problems related to nervous system abnormalities and muscle tone affect the development of the infant 's motor skills, potentially resulting in scoliosis and crossed eyes. Forms of surgical intervention might be limited due to the child 's cardiac
health.
Infants with Edward 's syndrome can experience constipation caused by poor abdominal muscle tone, something that can be a life-long problem. The results can be discomfort, fretfulness, and feeding issues. Special milk formulas, anti-gas medications, laxatives, stool softeners, as well as suppositories are potential treatments a doctor may recommend. Enemas are something that should not be given to a child with Edward 's syndrome because they can deplete the child 's electrolytes and alter their body fluid composition.
7. Is there any treatment or cure?
Medical science has not found a cure for Edward 's syndrome at this time. Babies with the syndrome commonly present with major physical abnormalities and doctors face hard choices in regards to their treatment. Surgery can treat some of the issues related to the syndrome, yet extreme and invasive procedures might not be in the best interests of an infant, whose lifespan could be measured in weeks or even days. Treatment today consists of palliative care.
8. References
Thomas C. Weiss (Feb 14, 2010).
“Edward 's Syndrome - Facts and Information” Retrieved 11:03am, 18th February, 2014, from http://www.disabled-world.com/disability/types/edwards-syndrome.php
Health 9 (March 18, 2013)
“Edwards Syndrome” Retrieved 11:06am, 18th February, 2014, from http://health9.org/edwards-syndrome/
Children with Edwards Syndrome
1. Name the condition.
Edwards Syndrome (or Trisomy 18)
2. Outline the chromosomal abnormality.
Trisomy 18, or Edwards syndrome, occurs when a person has a third copy of material from chromosome 18 instead of the usual two copies.
3. What chromosomes are involved?
Chromosome 18 is the only chromosome involved with this disorder.
4. What does it affect?
The majority of children born with Edward 's syndrome appear both fragile and weak; many are underweight. Their heads are unusually small, while the backs of their heads are prominent. Their ears are low-set and malformed, and their mouths and jaws are small. Babies with the syndrome may experience a cleft palate or lip. Their hands are often clenched into …show more content…
fists, with their index finger overlapping their other fingers. Babies with Edward 's syndrome can have clubfeet, as well as toes that may be fused or webbed.
Children with the syndrome can experience problems with their lungs and diaphragm, and blood vessels.
They may present with a number of types of congenital heart disease (e.g. atrial septic defect, ventricular septal defect, or patent ductus arteriosus) Children with the syndrome might have a hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles if they are male.
5. How common is it?
The syndrome occurs in about 1 out of every 5000 births. Edward 's syndrome affects more girls than boys - around 80% of those affected are female. Women older than the age of thirty have a greater risk of bearing a child with the syndrome, although it may also occur with women younger than thirty. It is the second most common chromosomal abnormality, after Down syndrome.
6. How does the condition affect people?
Approximately 5-10% of children with Edward 's syndrome survive beyond their first year of life, requiring treatments that are appropriate for the various and chronic effects that are associated with the syndrome. Problems related to nervous system abnormalities and muscle tone affect the development of the infant 's motor skills, potentially resulting in scoliosis and crossed eyes. Forms of surgical intervention might be limited due to the child 's cardiac
health.
Infants with Edward 's syndrome can experience constipation caused by poor abdominal muscle tone, something that can be a life-long problem. The results can be discomfort, fretfulness, and feeding issues. Special milk formulas, anti-gas medications, laxatives, stool softeners, as well as suppositories are potential treatments a doctor may recommend. Enemas are something that should not be given to a child with Edward 's syndrome because they can deplete the child 's electrolytes and alter their body fluid composition.
7. Is there any treatment or cure?
Medical science has not found a cure for Edward 's syndrome at this time. Babies with the syndrome commonly present with major physical abnormalities and doctors face hard choices in regards to their treatment. Surgery can treat some of the issues related to the syndrome, yet extreme and invasive procedures might not be in the best interests of an infant, whose lifespan could be measured in weeks or even days. Treatment today consists of palliative care.
8. References
Thomas C. Weiss (Feb 14, 2010).
“Edward 's Syndrome - Facts and Information” Retrieved 11:03am, 18th February, 2014, from http://www.disabled-world.com/disability/types/edwards-syndrome.php
Health 9 (March 18, 2013)
“Edwards Syndrome” Retrieved 11:06am, 18th February, 2014, from http://health9.org/edwards-syndrome/
Children with Edwards Syndrome