Edwards' Syndrome Health Article

Treatment

There is no cure for Edwards' syndrome. Since babies with Edwards' syndrome frequently have major physical abnormalities, doctors and parents face difficult choices regarding treatment. Abnormalities can be treated to a certain degree with surgery, but extreme invasive procedures may not be in the best interests of an infant whose lifespan is measured in days or weeks. Medical therapy often consists of supportive care with the goal of making the infant comfortable, rather than prolonging life.

However, 5–10 percent of children with Edwards' syndrome do survive past the first year of life, and require appropriate treatment for the many chronic effects associated with the syndrome. Problems with muscle tone and nervous system abnormalities will affect the development of motor skills, possibly resulting in scoliosis (curvature of the spine) and esotropia (crossed eyes). Surgical interventions may be limited by child's cardiac health.

Constipation due to poor abdominal muscle tone is often a life-long problem for babies and children with Edwards' syndrome, resulting in fretfulness, discomfort, and feeding problems. Anti-gas medication, special milk formulas, stool softener medicines, laxatives, and suppositories are all possible treatments that the doctor may recommend to ease the discomfort of gas in the bowels or constipation. An enema should not given to the baby or child because it can deplete electrolytes and alter body fluid composition.

Children with Edwards' syndrome will exhibit severe developmental delays, but with early intervention through special education and therapy programs, they can attain some developmental milestones.

Children with Edwards' syndrome appear to have increased risk of developing a Wilms' tumor, a cancer of the kidney that primarily affects children. Therefore, it is recommended that older infants and children with Edwards' syndrome have a routine ultrasound of the abdominal cavity.

Other illnesses that may affect a child with Edwards' syndrome and that may require treatment include congenital heart disease, pulmonary hypertension, elevated blood pressure, apnea episodes, pneumonias, sinus infections, seizures, urinary tract infections, ear infections, and eye infections. Other abnormalities that may require consideration of medical or surgical intervention include club foot, facial clefts, spina bifida, and hydrocephalus.

Nutritional concerns

Babies with Edwards' syndrome generally have feeding problems related to difficulties in coordination of breathing, sucking, and swallowing. Many have a weak suck and uncoordinated swallow resulting in choking and sometimes vomiting. Gastroesophageal reflux disease, or GERD (the upward movement of small amounts of stomach contents to the esophagus or throat), aspiration (inhalation or trickle of fluids into the lungs), and oral facial clefts may also contribute to feeding difficulties. The baby should be referred to a feeding specialist to help with feeding problems. The specialist can show the parents how to position the baby's head up, in good body alignment, because a baby with Edwards' syndrome may have hyperextension of the head. This is a common condition that occurs before the baby has developed head control. It results in the elongation of throat muscles, making swallowing more difficult. Because of feeding difficulties, many babies with Edwards' syndrome are fed through a tube inserted through the nose or mouth, down through the esophagus, and into the stomach. Some babies eventually progress to bottle or breastfeeding, while others have a gastrostomy (G-tube) placed abdominally to prevent the trauma of tube insertion. Some children are fed both orally and through the tube.

The baby should be fed with pre-softened preemie nipples and given small amounts frequently. To help prevent reflux, the baby's head should be elevated about 30 degrees or more during feeding and for one to two hours after a feeding. If tolerated, high calories formulas or supplements may be fed to help the baby gain weight.

Prognosis

Most children born with Edwards' syndrome die within their first year of life. The average lifespan is less than two months for 50 percent of the children, and 90–95 percent die before their first birthday. The 5–10 percent of children who survive their first year have severe developmental disabilities. They need support to walk, and learning is limited. Verbal communication is also limited, but they can respond to comforting and can learn to recognize, smile, and interact with caregivers and others, and acquire such skills as rolling over and self-feeding. They will have many physical abnormalities that require constant care as doctors and parents work together to prevent and treat various problems.

Prevention

Most cases of Edwards' syndrome are not hereditary and cannot be prevented. However, parents who have had a child with Edwards' syndrome are at increased risk of having another child with the syndrome.