Edwards Syndrome - Causes, Symptoms and Treatment. MF.

Edwards syndrome is a form of rare genetic disease when a part of the human 18-chromosome is duplicated. Most children with this pathology die at the stage of embryonic development, this occurs in 60% of cases. The prevalence of Edwards syndrome is on average 1: 3000-1: 8000 cases. The inheritance of the syndrome is not traced, and the randomness of this mutation is only 1%.

Edwards Syndrome was named after Dr. John Edward, who in 1960 described the first cases and documented the pattern of symptom development. Edwards' syndrome affects more of the female sex than the male sex - about 80 percent of the victims are women. Women over the age of thirty have a greater risk of having a child with a syndrome, although the same can occur with women under the age of thirty, but significantly less. About 12% of children with the syndrome live to the age when it is possible to assess the possibilities of mental development;babies that survive have serious defects and usually do not live long. Edwards syndrome is associated with a wide range of disorders, which consist of more than one hundred and thirty discrete defects associated with the brain, heart, craniofacial structure, kidneys and stomach.

Reasons for the development of Edwards syndrome.

Each cell in the human body contains twenty-three pairs of chromosomes, which it inherits from its parents. People in each sex cell have the same number of chromosome sets. In women, these are ovules( they are called XX), and in men( called XY) they are spermatozoa. During the division of a fertilized egg, a mutation occurs under the influence of some factors and an additional chromosome appears in the eighteenth pair, which is responsible for the appearance of Edwards syndrome. Children with the syndrome inherit the wrong number of chromosomes, instead of two copies they have three copies of chromosomes. This kind of mutation is called "trisomy", as the number of the pair in which the mutation occurred is included in the name, in the case of Edwards syndrome this is the eighteenth pair.

The above described variant is a "complete trisomy", i.e. the child has inherited a full complementary copy of the superfluous chromosome, such children with Edwards syndrome according to statistics of 95%."Complete trisomy" has almost all the signs of the disease and is very difficult.

There are two more variants of mutations. Two percent of children with Edwards syndrome have a translocation in the 18 pair, when only a part of the extra chromosome is present. Three percent of children with the syndrome have "mosaic trisomy," this kind of mutation is characterized by the presence of an extra chromosome in not all cells of the body.

Symptoms of Edwards syndrome.

Most children born with Edwards syndrome have a body weight deficit and a pronounced developmental delay. Their head is unusually small, and the nape has a pronounced size. Their ears are low set, the upper and / or lower jaw has a developmental defect called micrognathia. This is a condition where the shape of the face is distorted and an incorrect bite is formed.

Appearance of a patient with Edwards Syndrome

Children often form a "wolf mouth" and "hare lip," a condition when a cleft occurs in the upper sky and lip, respectively.

Formed "hare's lip"

Children's pens are often clenched into fists and all fingers have a characteristic uneven position.

Flexory position of the brush

Children suffer from clubfoot, and the fingers on the lower extremities can have membranes or completely merge with each other.

Very often in patients with the syndrome, there are problems with the heart, lungs and diaphragm due to the pathology of the vascular link and the development of congenital malformations. Heart defects can have different character and different quantity: open arterial duct, defect of interventricular septum, open oval opening.

Mutations can cause the development of inguinal and umbilical hernias, anomalies in the development of the genitourinary system and dysplastic syndrome. The percentage of development of a defect:

System damage and vice( symptom) - Frequency%
Brain skull and face - 100%
microgenia - 96.8%
low location and / and deformation of the auricles - 95.6%
dolichocephaly 89.8%
high sky- 78%
cleft palate - 15%
microstomy - 71%
Musculoskeletal system - 98.1%
flexor position of the hands - 91.4%
rocking foot - 76.2%
cutaneous syndacty stop - 49.5%
clubfeet - 34,9%
Central nervous system - 20,4%
Cardiovascular system - 90,4%
Digestive organs - 54,9%
Genitourinary system - 33.5%

Children with Edward syndrome usually have feeding problems. Problems arise from the violation of congenital reflexes of swallowing and sucking. Poor development of the sucking reflex and uncoordinated swallowing leads to suffocation of the child.

A child may develop gastroesophageal reflux disease. Congenital clefts of the facial skeleton also cause difficulties in feeding. They lead to the need to feed the baby through a probe or gastrostomy. A specialist can show the child's parents how to properly hold the head and body of their child. In order to prevent reflux, the baby's head should be raised about thirty degrees or more until the child eats, and for an hour or two after he ate.

Diagnosis of Edward Syndrome

The diagnosis of Edwards syndrome can be made by determining at physical examination all of the above external symptoms. A more accurate diagnosis can be made by analyzing "karyotyping," which involves taking blood samples of a child to determine the chromosome composition.

Due to the large number of malformations and a very low survival rate of children with Edwards syndrome, antenatal diagnostic methods have now been developed. One of the first and available methods that are implemented in all women's consultations is the ultrasound of the fetus. On ultrasound in early pregnancy can be suspected malformations of the brain and limbs, as well as the presence of a copious amount of amniotic fluid, which should alert the doctor. When receiving these results, it is necessary to send the pregnant woman to a more detailed and targeted observation in the hospital.

All the necessary general clinical tests and more specific tests, such as echography, dopplerometry, serum blood markers: β-subunit of chorionic gonadotropin( βHG), α-fetoprotein( AFP), estriol( E3), 17-oxyprogesterone. To assess the risk of the birth of children with chromosomal pathology, a specially developed computer program PRISCA, taking into account the woman's age, serum markers and gestational age, is used in all observations. It is also necessary to perform a transabdominal amniocentesis with subsequent cordocentesis. In amniotic waters, in the presence of Edwards syndrome, AFP, 17-OP, EZ will be determined, and the fetal blood will determine the trisomy karyotype of 18 chromosomes.

Treatment of Edwards Syndrome

The scientific medical community does not know a cure for the syndrome at this time. Children with Edwards syndrome are usually born with physical abnormalities, and doctors are faced with a problem in choosing a method of treatment. Surgery can eliminate some of the vices associated with the syndrome, but the invasiveness of the procedure does not justify the result in children whose lifespan varies from a few days to months.

Treatment to date is reduced to palliative care( maintaining the morale of facing a deadly disease).From five to ten percent of children with Edwards syndrome live until the first year of life.

Problems associated with disorders of the nervous system and muscle tone affect the development of the motor skills of the child, which can lead to scoliosis, muscle atrophy, strabismus. Surgical treatment in sick children can be limited due to malformations of the cardiovascular system. Children with the syndrome often have constipation caused by poor tone of the abdominal wall and atonic intestine. As a result, infants experience discomfort and difficulty feeding. Special milk formulas, laxatives and preparations from the group "defoamers" can alleviate these symptoms. Enema in this situation is contraindicated, because they can lead to electrolyte imbalance in the child.

Children with the syndrome often lag behind in development, in connection with this, it is necessary to use specially developed therapy programs to correct the delay in physical development.

Another factor of the unfavorable prognosis is an increased risk of developing a tumor of "Wilms" - this is one of the types of kidney cancer. It is recommended a regular ultrasound examination of the abdominal cavity for the presence of this pathology.

Sick children are at risk for various infections and pathological conditions such as urogenital infections, otitis media, conjunctivitis of various etiologies, sinusitis, frontal infections, pneumonia, nighttime apnea, pulmonary hypertension, congenital heart disease and high blood pressure. It is necessary to be ready to effectively conduct treatment and timely suspect these diseases.

Parents who have a child with this syndrome need constant monitoring of their health, because a timely disease can prolong the life of their children.

Prognosis of Edward's syndrome

The prognosis to a greater extent for this pathology is not favorable. Most of the children who were born with Edwards syndrome do not live to the first year of their life. The average life expectancy for half the children born with this syndrome is less than two months. From ninety to ninety-five percent of these children die before they reach their first birthday. Between five and ten percent of children who survive in the first year experience serious developmental disabilities.

Children who have lived the first year need constant monitoring and supervision, and experience serious difficulties in development. Their verbal communication skills are limited, although they are able to respond to the comforts of their parents and have the opportunity to learn to smile, recognize and interact with educators and other people. They can acquire the skills necessary for all children, such as self-feeding and raising heads, skills that are characteristic of healthy children of their age.

Doctor therapist Zhumagaziev E.N.