Down Syndrome: Causes, Diagnosis, Symptoms andtreatment

Синдром даунаDown syndrome – chromosomal pathology,
which is the result of a mutation of the 21st pair of chromosomes.
The disease is named after the discoverer and initiator of his research.
doctor – George Down. According to статистике около 10% детей страдают
from such a syndrome of mental retardation. Presence of excess
chromosomes affect not only the overall development and health of the child, but
and on its appearance.

Short description

Down syndrome is a congenital disorder that
manifested by impaired bone growth and other physical abnormalities.
Children with this pathology are far behind in their mental development.
Even as an adult, the patient can think like a child of 7 years.

Parents have to constantly contact with
following specialists:

  • Болезнь даунаdistrict pediatrician;
  • neurologist;
  • oculist;
  • ENT;
  • endocrinologist;
  • speech therapist;
  • psychologist.

Haveчастковый педиатр должен детально рассказать родителям об
features of care for such a child. Should consult
with the doctor for all the necessary tests that will help
identify the presence of concomitant pathologies.

A neurologist prescribes certain medications,
physiotherapy and physiotherapy methods.
Often these children have vision problems that
early age cannot be established independently.

Причины синдрома даунаATажно проконсультироваться с
as a newborn can have hearing problems
bodies, and this exacerbates problems with speech and its perception. First
a sign of hearing deviation is the absence of a start when
sharp and loud sound. Sometimes assigned to remove adenoids.
This surgery can improve nasal breathing.

Have детей с даунизмом часто возникают проблемы с железами
endocrine secretion, in particular, with the thyroid gland. AT таких
In cases of child does not recover, constantly sluggish, he has cold
palms and body temperature below 36.5 degrees. To reduce the defect
speech to a minimum, it is recommended to engage hard with a speech therapist.

There are also focal brain lesions that
cause problems with coordination of movements. Have таких детей могут
observed violations in the development of fine and large motility.

Many different rehabilitation centers are now opening,
where the family can go for support. They оказывают не только
psychological, but also socio-legal, pedagogical and
medical assistance. If a малышу нет года, то специалист может
visit him at home. For older children there are many
group activities that will help each child adapt to
society. Specialists also work with parents, they briefly
talk about the main points of raising children with disabilities and
if necessary, provide psychological assistance.

Causes of anomaly

The main reason why the disease occurs – anomaly
chromosomes. Have здорового человека их 46, а у людей с отклонением — 47.
This genetic pathology is laid at the moment of conception,
when the sperm cell merges with the egg cell. AT 90% случаев лишняя
the chromosome is transmitted from the mother.

Stress, eating habits and bad habits during
Pregnancy does not affect the appearance of deviations.
The following can contribute to the birth of a sick child.

  1. Признаки синдрома даунаRelationship between loved ones
    relatives. it объясняется тем, что они имеют одни и те же
    genetic pathology. If a у двух людей присутствуют дефекты
    protein or chromosome 21, the probability of having a child with
    The deviation is quite high. The closer the relationship, the greater the risk
    pathological failure.
  2. Pregnancy before 18 years. The body of the girl is not yet to the end
    formed, so the sex glands are not able to work
    stable Anomaly may occur due to process failure.
    maturation of the egg.
  3. ATозраст беременной старше 35 лет. AT этом случае женщине
    It is recommended to undergo a genetic test to determine
    патологию ещё до рождения child The older the expectant mother, the
    higher risks. About 3% of pregnancies from the age of 45
    заканчиваются рождением больного child
  4. Fromец старше 45 лет. The process of formation of sperm
    violated, therefore, in the genetic material may be deviations.
    Before conceiving a child, men over 45 are recommended to pass
    sperm to determine its quality and take a course of vitamin E.

This syndrome is a random mutation. Infectious
diseases, ecology and other external risk factors do not have
no influence on this process. Severe pregnancy and difficult
childbirth also does not cause down syndrome.

Symptoms of pathology

When carrying a fetus that has an anomaly, is present
high risk of miscarriage. Spontaneous interruption occurs in 30%
pregnant women. Most often this happens for a period of 6 to 8 weeks.
Children with the syndrome Дауна рождаются доношенными, но их масса тела
less than the norm by 8−10%.

A neonatologist will be able to recognize external signs of the syndrome already on
The first inspection of the baby. To the number of such manifestations

  • Общее описание синдрома Даунаflattened face (so
    called face Down);
  • deformation of the ears;
  • neck crease in newborns;
  • brachycephaly;
  • weak muscle tone;
  • Mongoloid eye shape;
  • chest deformity;
  • the presence of a sandal-shaped gap between the toes;
  • malocclusion.

Mentally retarded babies often have dermatological
problems: dry skin, folliculitis, eczema or acne. They
often sick and very difficult to endure childhood infections.
Most often they suffer:

  • pneumonia;
  • ARVI;
  • tonsillitis;
  • otitis media

Due to weak immunity and other congenital malformations such children
often die to 5 years. Mental retardation can be mild
or average, a sick child will significantly lag behind in development
from their peers. However, it happens that children with the syndrome
speech is quite developed.

In childhood, retardation is manifested in the development of external genital
organs but by adolescence they reach normal
sizes. The consequence of this inhibited process becomes
infertility in men.

Diagnostic methods

An important place is occupied by prenatal diagnosis. Pregnant
are screened to determine the likelihood of having a baby with
anomaly. For a period of 11 to 14 weeks, the pregnant woman is sent to
comprehensive prenatal diagnosis. Risk calculation
produced by three indicators:

  • the amount of plasma protein A;
  • amount of free chorionic gonadotropin β subunit
  • the presence of ultrasound signs.

The latter can include a large amount of fluid in the collar
space, shortened leg bones and changes in structure
the brain. These criteria do not yet allow an accurate diagnosis, but by
their results form the risk group of pregnant women who have
high probability of having a baby with chromosomal abnormalities.

Причины возникновения синдрома Дауна

To conduct an accurate analysis, invasive manipulation is carried out,
which involves obtaining fetal material. AT
Depending on the gestational age, the following

  • chorionic villus biopsy;
  • amniocentesis;
  • cordocentesis.

The obtained samples are investigated, determined by the chromosome set.
After confirming the diagnosis, interruption may be performed.
pregnancy for medical reasons depending on the period. it
the decision must be made by a consultation of doctors, having previously received
consent in a pregnant woman.

Признаки возникновения синдрома ДаунаPostpartum
pathology diagnosis is carried out by external signs. Enough
look at the face of the newborn. Daunism in 90% of kids manifested
in the form of a “flat face”, and in 81% – brachycephaly. More accurate
Diagnosis is carried out through a blood test for karyotype. ATрач
can not make a diagnosis, relying only on external
the signs.

There are many opinions on the ethical side.
abortion after the diagnosis of pathology. According to
the study, in 2002, was interrupted from 91 to 93% of pregnancies
in Europe due to chromosomal abnormality. Famous specialist in
ethics, Ronald Green points out that parents should not
allow “genetic harm.” Head of the Syndrome Association
Down’s supports prenatal diagnosis and termination.
pregnancy if the fact of deviation is confirmed.

But there is another opinion about this. Many
experts are puzzled by the high number of abortions.
Well-known journalist George Will called this happening “eugenics.”
through abortion. “

Despite the huge number of disputes over abortion,
diagnosis of Down syndrome, the decision remains only for a woman.

The development of children with the syndrome

Previously, children with mental retardation were considered a burden, their
tried in every way to isolate. Now parents are more interested
question of restoring a baby, so these children have more
chances for quite comfortable life.


Характеристика методов диагностикиChildren with the syndrome
have a well developed visual perception, they are attentive to
details. From the first days it is recommended to show the baby cards with
objects and call them. AT день необходимо изучать по 2−3 новых
concepts Further study will rely for the most part on gestures
and visual aids.


Thanks to observation, the child quickly learns from experience.
peers and adults, so a sick baby in no case
you can not isolate, you should strongly support his talents.
Normal adaptation contributes to art therapy, and athletes with such
deviations often show good results. Especially successful
they are swimming, gymnastics and running.

Children with a chromosomal abnormality are empathic. They хорошо
understand the feelings of others and are always ready to provide moral

Physical features

The first year of life is the most important for such children. If a
parents will not be actively engaged in the development of the baby, the moment
will be missed. AT этом случае развивать речь и физические способности
then it becomes very difficult. In the first year of the development gap
minimum, it is from 2 to 5 months, so it is very important
time to start to engage with the baby.

To strengthen the muscles, it is recommended to do massage and special
gymnastics. But this can only be done after 2 weeks and only in
If a newborn weighs more than 2 kg. Massage course
need to be repeated every 1.5 months. It can be carried out as
independently, and turning to a professional. Conducting
massage at home should pay attention to the following

  • all movements should be as light as possible, as strong
    pressure may weaken;
  • the skin of the child should not stretch or move;
  • special attention should be paid to the development of brushes and
  • the muscles around the mouth are worked out in circular motions.

Additionally, it should be easy to touch with fingers
cheeks and forehead baby. This massage is recommended for 15 minutes.
before feeding. Manual exposure can be complemented by active
gymnastics. It is recommended to perform the movements according to the method of Peter.
Лаутеслагера или следовать рефлекторной гимнастике ATойта. From
active exercise must be abandoned.

Особенности развития детей с патологиейRight
performed massage allows you to speed up the movement of blood and increase
load on the heart. But before any manipulations should be
consult with a specialist.

The first smile in children with this pathology can only appear
1,5−4 months of life. She will be very weak and inexpressive.
ATажно заметить её и отреагировать — так малыш будет закреплять этот
skill. Stretching hands to parents these children start from the 6th
of the month. So late onset of reflex is due to weakness.

ATажно как можно раньше научить малыша сидеть. Because of their
of anatomical features he cannot do this without learning
so parents need to be patient. Have it healthy
peer hands are longer and stronger so they can use
them as a prop to sit down. Disabled children master this
�“Science” only by 9–10 months. But it should be understood that each
baby’s pace of development, so some kids can sit down
only for 24 month.

After the child began to sit himself, you can give him hands
bottle or spoon. AT этот же период дети приучаются к горшку.
They begin to crawl only 1.5 years. To have a child learn
walk, an adult should move his legs.

ATылечить такое заболевание невозможно, но ребёнок может
learn all that healthy children can do. It will take more
time and effort, but with the right approach there will be good


Сопутствующие заболеванияFor children with chromosomal
pathology is characterized by a number of associated diseases, significantly
impairing the quality of life. ATажно вовремя диагностировать болезнь и
get treatment Babies with the syndrome are often exposed to infections
as they have low cellular immunity. Usually affects the bronchi
trachea, tonsils and throat. Parents should ensure that
the child is not supercooled.

In 40% of patients with congenital heart disease. He can
manifest not immediately, but only after a few months. If a эта
the disease causes serious circulatory problems,
she is treated surgically.

Vision problems occur in 66% of children suffering from
chromosomal abnormality. They can have a cataract,
high intraocular pressure, myopia and horny protrusion
shell. To notice the development of pathology in time, it is necessary 1
once a year undergo a full examination by an ophthalmologist.

These patients may have food reflux. Make it easier
The state of the baby can be simple – make his portions smaller.

Children with disabilities often suffer from severe stress, especially
in more adulthood. it приводит к возникновению припадков,
resembling epilepsy. Their cause is focal brain damage,
which may also manifest as fever, hallucinations,
twitching limbs and drooping heads.

Some babies have apnea – respiratory arrest during
time to sleep. it возникает из-за того, что у малыша слабый тонус
pharynx and big tongue. To reduce the manifestations of apnea,
It is recommended to put the child to sleep on its side.

There are cases when children with signs of Down syndrome may
observe congenital blood cancer. It appears as
hemorrhages under the skin (unreasonable bruises), in internal
органы и слизистые shell. Achieve a temporary retreat
diseases can be with chemotherapy.

Preventive measures

Fully insure the unborn child from such a chromosomal
anomalies can not be. But you can avoid the negative factors that
able to cause deviation.

Preventive measuresATо время планирования
pregnancy is necessary to undergo medical genetic consultation. Have
future parents are taking blood samples to conduct
research into the presence of genetic abnormalities. If a у одного из
spouses show the “wrong” gene, the risk of having a baby with
deviation increases.

There is also an opinion that under the influence of negative
environmental factors genetic material may be damaged. But
This version does not have enough evidence. Bright
example – after the Chernobyl accident the percentage of children with Down syndrome,
born in the affected area, not higher than the average
throughout country.

For the prevention of the development of malignant tumors, genetic
and chromosomal abnormalities should be avoided:

  • connections with blood relatives;
  • radiation exposure;
  • regular use of alcohol and nicotine;
  • genital infections;
  • drug use;
  • viral lesions.

Expectant mothers need to be as healthy as possible.
of life. Physical activity provides good blood circulation and
protection of eggs from oxygen starvation. ATажно правильно
eat, because vitamins and nutrients are needed to maintain
hormonal balance and high immunity.

ATо время беременности необходимо следить за своим весом. Strong
thinness or obesity can lead to hormone failure, as
consequently, this will adversely affect the maturation of the germ cells.

AT первые несколько месяцев после зачатия рекомендуется пить
vitamin and mineral complex. AT его составе обязательно должна
присутствовать фолиевая кислота, витамин AT и Е.

A child with trisomy 21 chromosome pairs can be born in any
family regardless of social status and place of residence.
Chromosomal abnormality is a genetic error, but not
sentence for a child. With the right approach, the baby will be able to develop
necessary skills and abilities. ATажно лишь всячески помогать ему
socialize and encourage his small victories.

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