Very often, parents who have recently had a child with Down syndrome have many questions about the child's health, further rehabilitation, disability registration, etc. In this section, we have tried to collect as much information as possible regarding this diagnosis.
Down syndrome is a genetic anomaly, an accidental malfunction in the well–functioning process of cell division. A person with Down syndrome has an additional, third chromosome in the 21st pair of chromosomes, and thus, as a result, there are already 47 of them, and not 46 as in an ordinary person.
For the first time, this syndrome was described by the English physician John Langdon Down back in 1866, who in the future was named after his surname.
In connection with what and for what reason this anomaly occurs, science still finds it difficult to answer. According to statistics from the World Health Organization, one in 700 babies in the world is born with a diagnosis of Down syndrome. This ratio is the same in different countries, climatic zones and social strata. Genetic failure occurs regardless of the lifestyle of the parents, their health, habits and education. That's why doctors say: no one's fault, and even more so the parent's, in the appearance of an extra chromosome in a child. In both sexes, the anomaly occurs with the same frequency.
The symptoms of Down syndrome can be seen already at the birth of a newborn baby.
Among the characteristic external signs of the syndrome, a flat face with slanted eyes (like those of the Mongoloid race), wide lips, a wide flat tongue with a deep longitudinal furrow on it is noted. The head is round, a narrow sloping forehead, the auricles are reduced vertically, with an ingrown lobe, eyes with a mottled iris (Brushfeld spots). The hair on the head is soft, sparse, straight with a low growth line on the neck. People with Down syndrome are characterized by limb changes – shortening and expansion of the hands and feet (acromicry). The little finger is shortened and curved, with only two flexor furrows on it. There is only one transverse furrow (four-fingered) on the palms. Abnormal tooth growth, high palate, and changes in internal organs, especially the alimentary canal and heart, are noted.
1. Common trisomy. The most common form of DS. It occurs in 95% of cases. It is characterized by the presence of 47 chromosomes in all cells.
2. Robertson translocation. Additional material of chromosome 21, which causes Down syndrome, may appear due to Robertson translocations in the karyotype of one of the parents. This form is often called familial Down syndrome. It occurs in 2-3% of all cases of diabetes.
3. Mosaicism. It is characterized by the presence of an additional chromosome not in the whole body, but in individual cells. According to this type, the syndrome appears in 1-2% of cases.
You can determine the presence and form of Down syndrome by taking a blood test for a karyotype.
Down syndrome. What's it?
Signs of Down syndrome
Forms of Down syndrome
Babies with Down syndrome have medical problems more often than ordinary children. Of course, it should not be assumed that every child with Down syndrome necessarily has all the medical problems listed in this section. It's just that parents need to know about them in order to keep the baby's health under control and, if necessary, take appropriate measures in time.

In many cases, babies with Down syndrome are born one to two weeks early. They are more likely than ordinary children to have congenital heart or digestive system defects, sometimes requiring surgery, as well as decreased hearing, vision and thyroid function.

In order for a child with Down syndrome to grow and develop successfully, he needs help from an early age, which is a certain set of special measures aimed at maintaining general health and stimulating development. In our country, parents traditionally turn to doctors for such help, that is, simply put, they go to a polyclinic. Unfortunately, not all pediatricians and other specialists of polyclinic departments are sufficiently familiar with the peculiarities of the development of children with Down syndrome, so it is very useful for parents to have an idea of the examinations necessary for their child in order to correctly navigate the prescriptions of the attending physician.
Child's health
As already mentioned, children with Down syndrome are more susceptible to certain diseases than ordinary babies, so it is important for parents to keep in touch with a pediatrician and other medical specialists for timely examination of the child and his treatment, if necessary.
Many of the medical examinations listed here are performed by all babies, but for a child with Down syndrome, they are all necessary.
We provide a table that will help you organize the necessary medical examinations of your baby in time.
Necessary medical examinations
Necessary to check
The specialist conducting the inspection
Necessary researches
The age of the child at which the examination is required
The work of the gastrointestinal tract and respiratory organs, skin
Examination and conversation with mom
At birth in the hospital, then at 3 and 6 months
Blood condition
Clinical blood test
At 3, 6 and 12 months
Urinary status
General urine analysis, ultrasound of the kidneys
In the first 3 months
Heart condition
At the 1st month of life, then - according to the indications
Thyroid function
Blood test for TSH, T3, T4 free
The test at the hospital, then 1 time per year
Vision and lacrimal tract check
10-12 months, 3 years, 6 years
Neurological consultation
Neurosonography, neuropsychiatric examination
1, 3, 12 months, then at least once a year
Orthopedic consultation
An examination, possibly an X-ray examination
At 3, 6 and 12 months
Hearing check
The physiologist of hearing
Audiometry, tympanometry
At 6-9 months, further according to indications. It is very important to do tympanometry after each ARVI to eliminate hearing loss
Dental consultation
1 time per year
Consultation with an otolaryngologist
At 3.6 and 12 months
Please remember that Down syndrome is not a contraindication to the treatment of common diseases and cannot be a reason not to perform the necessary medical procedures!
I would like to draw the attention of parents to some important points of growth and development of a child with Down syndrome. Some features and problems can go unnoticed for a long time and have a negative impact on the development of the baby. Knowing about such "weak points", parents can keep them under control and seek help from specialists in a timely manner.
Of course, not everything listed below is necessarily characteristic of every child with Down syndrome. But the occurrence of such problems is possible, you need to be prepared for it.
Source: "Down Syndrome. The facts." Compiled by E.V. Polye. – 2nd edition, revised and supplemented. – Moscow: Charity Foundation "Downside Up", 2012.
Possible health problems
In children with Down syndrome, the development of bones in the middle part of the face lags slightly behind the general development. Therefore, the baby's face may look flattened. The upper jaw can be small, so the mouth opening is also small. The sinuses are weakly expressed. Since the immunity of babies with Down syndrome is reduced, the nose can often become clogged with mucus, and then the child breathes with his mouth slightly open. With such breathing, the mucous membrane of the mouth and lips dries and the risk of new respiratory diseases increases. It is very important to ensure that the child's nose is free of mucus, and encourage the baby to breathe properly from an early age.
Skull and face
The skin of babies with Down syndrome is less elastic, drier and rough. The phenomena of exudative diathesis are not uncommon, and the skin is more prone to cracks.
To enhance blood circulation, and therefore "revitalize" the baby's skin, it is good to use "maternal massage", which a specialist can tell you about, as well as to slow down the child, turn him over from side to side, bathe regularly, using special oils (vaseline, peach, etc.).
Down syndrome has a number of ophthalmological problems that require treatment and correction. The structural features of the lacrimal canal can lead to conjunctivitis and lacrimation. Conservative therapy, as a rule, consists in massage of the nasolacrimal sac and treatment of conjunctivitis with local antibiotics.
Quite often, children with Down syndrome have strabismus. Due to hypotension of the eye muscles, they need more time for the eyes to move in a coordinated manner. Eye coordination can be accelerated by doing special exercises with the baby, which can be described by an ophthalmologist or a special teacher. Strabismus does not always affect the quality of vision, but it is necessary to consult a doctor about this.
Myopia and farsightedness, which is quite traditional for our society, also does not bypass children with Down syndrome. These visual distortions can be corrected with glasses.
Sometimes other eye diseases are detected in children with Down syndrome, so regular monitoring by a specialist is necessary.
Very often, children with Down syndrome have a violation of the balance of hormones produced by the thyroid gland.
Certain signs suggest that the thyroid gland is impaired:
· weight gain in the absence of an increase in height;
· noticeable lethargy, lethargy, decreased reaction speed;
· decreased appetite, constant constipation;
· the voice is hoarse, the hair is thinner, and the skin is drier than usual.
Thyroid diseases are successfully compensated by taking certain hormonal drugs. Timely diagnosis is necessary to determine the level of hormones in the blood (T3, T4 and TSH). Such an analysis should be done regularly (once a year), since abnormalities in the thyroid gland can appear at any time. If abnormalities of this kind are detected, the child needs to be monitored by an endocrinologist.
Thyroid gland
The structure of the upper respiratory tract in Down syndrome is characterized by narrowing of the nasopharynx and oropharynx, the eustachian tube, and the external auditory canal. During sleep, the muscles relax, and air access to the oropharynx may be partially or completely blocked by the root of the tongue. At the same time, the baby can snore, breathe intermittently, wake up often or take a specific pose in a dream (the head is thrown back, older children can sleep sitting). Sleep apnea leads to lethargy, daytime drowsiness, decreased physical development and worse behavior. Insufficient ventilation of the lungs can contribute to diseases of this organ. To prevent this dangerous phenomenon, it is necessary to lift the head end of the crib by 10 degrees and put the baby on its side. In some cases, tonsils are removed or other medical measures are carried out.
Quite often, children with Down syndrome have hearing loss. This is due to infectious diseases of the ears. There may also be congenital hearing loss. In about a third of cases, hearing loss is insignificant and does not require special medical measures, but you should definitely know about such hearing loss, since such problems need to be controlled.
From the first year of life, it is necessary to regularly monitor the state of hearing, since missed problems can negatively affect the overall development, in particular, the development of the baby's speech.
If treatment is necessary, it must be carried out. Medical appointments in these cases are practically the same as for ordinary children.
If a child is missing the simplest words by the age of 3, this is a serious reason to do audiometry. After each serious ARVI, it is necessary to do tympanometry to exclude otitis media, and, accordingly, hearing loss.
Obstructive sleep apnea syndrome
Digestive organs
Most babies with Down syndrome have digestive organs working normally, but there is a possibility of problems in this area.
The most serious of these is a complete or partial blockage of the esophagus or duodenum. Such deviations are detected in the first days of the baby's life. The warning signs are vomiting, abnormal stools and signs of dehydration. Unfortunately, it is impossible to do without surgery here.
Another disease is the so-called Hirschsprung's disease, in which the baby's tummy heaves, but there is no bowel movement. The reason for this deviation is the lack of nerve fibers in the rectum, which is why part of it is practically paralyzed. In this case, surgical intervention is also necessary.
In general, hypotension of the intestinal tract can be the cause of constipation, which is well known to us. When the child begins to move more, muscle tone gradually increases, and these kinds of problems are resolved naturally.
Children with Down syndrome, like all children, breastfeeding is very indicated.
Despite the peculiarities of the structure of the maxillofacial apparatus, breastfeeding is quite possible, but at first it is not always easy. It should be borne in mind that a baby with Down syndrome can be breastfed for as long as it takes. Natural feeding not only provides the baby with the best nutrition, but also strengthens the immune system, prevents otitis media and develops muscles with which he will speak. In addition, breastfeeding helps the mother to establish a very good emotional contact with the child.
The efforts aimed at making the baby learn to suck will certainly not be in vain. As a rule, difficulties are quite surmountable, you just need to be patient!
When it comes time for the baby to switch to solid food, patience will also be needed. On how to help a child with Down syndrome learn to chew, eat with a spoon, etc., it is best to consult with an early development specialist. You should also be careful about possible allergic reactions to certain foods, especially cow's milk and wheat.
Reproductive organs
The genitals of boys and girls with Down syndrome have a normal appearance. In boys, the penis and testicles in the first two years of life are somewhat smaller than usual. In some cases, as it happens in ordinary children, the testicles are not lowered into the scrotum, and sometimes it is necessary to resort to surgical intervention.
There are no sharp differences in the development of primary and secondary sexual characteristics, that is, in the size of the genitals or pubic hair, is not manifested. Young people with Down syndrome have a beard and mustache that begin to grow somewhat later than their normal peers, and girls tend to have very small breasts. At about 12.5-13 years of age, girls begin menstruating. Men with Down syndrome are not capable of fertilization. Women are able to carry and give birth to a child, but it is very likely that he will also have Down syndrome.
Unfortunately, cardiac dysfunction in Down syndrome is not uncommon, and about 30 to 40% of children with the syndrome suffer from one or another abnormality in this area.
The severity of cardiac abnormalities varies from a small insufficiency, which disappears over time, to very serious, life-threatening heart defects that require surgical intervention, sometimes immediately.
Signs of heart failure include faded grayish or bluish skin, difficulty breathing, swelling of the eyelids and noises audible when listening. However, the clinical picture may be blurred, so children with Down syndrome in the first days of life need a careful examination by a cardiologist, as well as an ECG and EchoCG examination. When detecting abnormalities in cardiac activity that do not require surgery, children still need regular scheduled examinations by a specialist.
Musculoskeletal system
Muscular hypotension and weakness of connective tissues predispose to orthopedic problems such as hip dysplasia, dislocations or subluxations of the hips, instability of the kneecap, scoliosis, flat feet.
Therefore, a child with Down syndrome needs to be examined by an orthopedist.
The motor development of these babies is somewhat slower, it is more difficult for them to master coordinated body movements. It is very important to ensure that the baby regularly acquires motor experience. You can find out how best to do this from a motor development specialist.
Studies have shown that in Down syndrome, the structural features of the nervous system somewhat slow down the passage of signals through nerve fibers, so children need more time to process information and respond. For this reason, in particular, the pace of development of babies is slowed down. You should keep this in mind and, while studying with your child, be sure to take the necessary pauses, giving the baby time to process information! Otherwise, it may seem that the child does not understand and does not react, although in fact he simply does not have enough time to express his reaction!
The speed of response
The basis for registration of disability is a karyotype analysis and the conclusion of a geneticist. In Kazakhstan, disability for children with Down syndrome is issued immediately after receiving these documents (you do not need to wait 4 months after diagnosis). Disability is given for a period of up to 7 years, at 7 years a group is assigned and disability is extended to 18 years.
Registration of disability
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