Edward's Syndrome: Causes, Symptoms, Treatment
Published: 2010-02-14 - Updated: 2023-01-28
Author: Thomas C. Weiss | Contact: Disabled World (Disabled-World.com)
Peer-Reviewed Publication: N/A
Additional References: Types of Disability Publications
Synopsis: Edwards Syndrome, also known as Trisomy 18 (T18), or Trisomy E, is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. In human reproductive cells, ovum cells in women and sperm cells in men each have twenty-three individual chromosomes, referred to as 'XX' in women and 'XY' in men and numbered one through twenty-two. Children with Edward's syndrome have an incorrect number of chromosomes. Children with the syndrome inherit three (referred to as a 'trisomy') copies of chromosome eighteen instead of two.
- Edwards Syndrome
Edwards Syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. Most people with the syndrome die during the fetal stage; infants who survive experience severe defects and commonly live for short periods. Edwards' syndrome is associated with a broad spectrum of abnormalities that consist of greater than one hundred and thirty discrete defects involving the brain, heart, craniofacial structures, kidneys, and stomach. The syndrome occurs in about one out of every five-thousand births. Edward's syndrome affects more girls than boys - around 80 percent of those affected are female. Women older than thirty have a greater risk of bearing a child with the syndrome, although it may also occur in women younger than thirty. Edward's syndrome was named after Dr. John Edward.
Edwards syndrome is a genetic condition that causes severe disability in babies. An extra copy of chromosome 18 causes it, and babies born with the condition usually do not survive for much longer than a week.
The U.S. Social Security Administration (SSA) has included Edwards Syndrome as a Compassionate Allowance, which expedites certain disability conditions claims.
Causes of Edward's Syndrome
Cells in the human body contain twenty-three pairs of chromosomes inherited from the person's parents. In human reproductive cells, ovum cells in women and sperm cells in men each have twenty-three individual chromosomes, referred to as 'XX' in women and 'XY' in men and numbered one through twenty-two. The extra material from chromosome eighteen, obtained after the egg is fertilized, is responsible for causing Edward's syndrome.
Children with Edward's syndrome have an incorrect number of chromosomes. Children with the syndrome inherit three (referred to as a 'trisomy') copies of chromosome eighteen instead of two. Ninety-five percent of children with Edward's syndrome have what is referred to as 'full-trisomies,' while two percent are due to trans-locations where only a portion of an extra chromosome is present. Three percent of children with Edward's syndrome have what is referred to as 'mosaic trisomies,' where the extra chromosome is there but not in every child's cells.
Symptoms of Edward's Syndrome
Most children born with Edward's syndrome appear fragile; many are underweight. Their heads are tiny, while the backs of their heads are prominent. Their ears are low-set and malformed, and their mouths and jaws are small, a condition referred to as 'micrognathia.' Babies with the syndrome may experience a cleft palate or lip. Their hands are often clenched into fists, with their index finger overlapping their other fingers. Babies with Edward's syndrome can have club feet and toes that may be fused or webbed.
Children with the syndrome can experience problems with their lungs, diaphragm, and blood vessels that are malformed. They may present with several types of congenital heart disease, including atrial septic defect, ventricular septal defect, or patent ductus arteriosus. Children with the syndrome might have an inguinal or umbilical hernia, abnormalities of their urogenital system, malformed kidneys, or undescended testicles if they are male.
A diagnosis of Edward's syndrome may be reached by the physical abnormalities characteristic of the syndrome. A physical examination of the infant can show arched-type fingerprint patterns, for example, while X-rays can show a shortened breast bone. A more definitive diagnosis can be reached through 'karyotyping,' which involves taking a sample of the infant's blood to examine their chromosomes. Through specific stains and microscopy, identification of specific chromosomes is possible, and the presence of an additional chromosome eighteen is shown.
Edward's syndrome is something that may be detected before the birth of the child. Potential testing includes maternal serum alpha-fetal protein analysis or screening, amniocentesis, ultrasonography, and chorionic villus sampling. A woman pregnant with a child with Edward's syndrome might have an uncommonly large uterus during the pregnancy because of extra amniotic fluid. An unusually small placenta might be noted during the birth of the child.
Medical science has not found a cure for Edward's syndrome. Babies with the syndrome commonly present with major physical abnormalities, and doctors face hard choices regarding their treatment. Surgery can treat some of the issues related to the syndrome. Yet, unnecessary 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.
Approximately five to ten percent of children with Edward's syndrome survive beyond their first year of life, requiring appropriate treatments for the various and chronic effects 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 or 'esotropia.' 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, which can be a life-long problem. The results can be discomfort, fretfulness, and feeding issues. Special milk formulas, anti-gas medications, laxatives, stool softeners, and suppositories are potential treatments a doctor may recommend. Enemas 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.
Children with this syndrome exhibit severe developmental delays, although they may reach some developmental milestones with early intervention through therapy programs and special education. They also seem to have an increased risk for the development of a 'Wilms tumor,' a form of kidney cancer that affects children for the most part. It is recommended that children with Edward's syndrome have a routine abdomen ultrasound. Children with this syndrome might require treatment for:
- Club foot
- Facial clefts
- Spina bifida
- Ear infections
- Eye infections
- Sinus infections
- Apnea episodes
- Urinary tract infections
- Elevated blood pressure
- Pulmonary hypertension
- Congenital heart disease
Most children born with Edward's syndrome do not live past their first year. The average lifespan for half of the children born with this syndrome is less than two months; approximately ninety to ninety-five percent of these children die before their first birthday. Five to ten percent of children who survive their first-year experience severe developmental disabilities. Children who live past their first year require walking support, and their ability to learn is limited. Their verbal communication abilities are limited as well. However, they can respond to comforting and have the ability to learn to smile, recognize and interact with caregivers and others. They can acquire skills such as self-feeding and rolling over.
Children with Edward's syndrome usually experience feeding issues related to breathing, sucking, and swallowing problems. Due to a weak suck and uncoordinated swallowing, choking and vomiting can result. The child can experience GERD or, 'Gastroesophageal reflux disease,' oral facial clefts, and aspiration that can contribute to their difficulties with feeding. A specialist can show the child's parents how to position their baby's head and keep their child's body in proper alignment.
Babies with Edward's syndrome can have hyper-extension of their heads, a common condition that makes it more difficult for them to swallow. The condition results in an elongation of their throat. Feeding difficulties can lead to feeding through a tube inserted through the child's nose or mouth, down their esophagus, and into their stomach. Some children with Edward's syndrome might progress to either breastfeeding or bottle feeding; others have a 'G-tube,' or gastrostomy placed in their abdomen to prevent the trauma of inserting a tube. Others are fed both through a tube and orally. Babies with this syndrome should be fed with nipples that are pre-softened and given small amounts of food frequently. To prevent reflux, the baby's head must be elevated at approximately thirty degrees or more while feeding and for an hour or two after eating. If the baby can tolerate it, high-calorie formulas or supplements might help them to gain weight.
Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida.
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