structure assotsiirovannyh with a syndrome of Down of diseases. Features of implication, diagnostic and therapeutic approaches.

Thyroid gland diseases meets according to different authors approximately at 28-40 % of children with SD and with the years patients frequency of these diseases increases to 54 % [54, 131, 67, 80, 41].

On structure of this pathology at children with SD, as shown in foreign researches, the subclinical hypothyrosis (25,3-32,9 %) prevails. It is less often observed
Congenital hypothyrosis (1,8-3,6 %) and autoimmune thyroiditis (Hashimoto) (0,3-1,4 %). Besides, children with SD can have a hyperthyroidism (illness Grejvsa) (0-2 %) [54,48, 112, 65, 125].

Clinical implications of a hypothyrosis, such as a hypomyotonia, a macroglossia, are similar to implications of the syndrome of Down and frequently cause difficulties in diagnostics, especially if not serious form of a hypothyrosis takes place.

As early diagnostics of a hypothyrosis is very important, and level intellectual and kognitivnyh possibilities of the child substantially depends on timeliness of the begun therapy [113], screening is spent to Russia many years on a congenital hypothyrosis. Unfortunately, such inspection is imperfect owing to the reasons having purely organizational and socially-psychological character [1]. The majority of researchers have come to conclusion, that screening of a congenital hypothyrosis cannot be unique research of thyroid function at children with SD. Research of level not only a thyritropic hormone (TTG), and also the general and free thyroxine, at more senior children and level of antibodies (anti-TpO) [114] Is necessary.

The question of necessity of replaceable therapy of a subclinical hypothyrosis at children with SD remains disputable. 24 months double blind research by duration is spent to the period with 1999 on 2001 [132] monotsentrovoe randomizirovannoe. The effect of treatment by a thyroxine in comparison with platsebo at 196 newborns with SD was estimated. It has appeared, that thyroxine appointment in the minimum doses from 8 mkg/sut under the control of level of thyroid hormones of blood (TTG - within norm, Т4 free - the top border of norm) has considerably improved indicators of growth and psychomotor development in these children in comparison with those who received platsebo. Thus, it has been shown, that medicamental correction

In parallel in some countries influence of zinc on thyroid gland function was investigated. It is known, that at SD depression of total of zinc in blood that is reflected in function of immune system, rates of growth of the child and integument changes is often taped. Was considered, that application of Natrii phosphas of zinc improves the general condition, reduces a case rate and eliminates a xeroderma and fragility of fingernails at children with SD. Moreover, against application of such treatment level of a thyritropic hormone (TTG) is normalised at its primary rising. However, in spent randomizirovannom blind research at use of preparations of zinc indicators of thyroid hormones in investigated group have not changed in any way [77].

The diabetes at children with SD meets more often, than in the general population (1 %) [110, 133]. Diagnostic and therapeutic approaches have no specificity.

As shown in a number of researches, the Gee's disease meets at 5-7 % [143, 22, 53, 64] children with SD and almost at third its asymptomatic or erased current becomes perceptible.

The reason of the raised prevalence of this pathology at patients with a trisomy of 21st chromosome while precisely is not clear. Possibly, it is bound to predilection of children with SD to the autoimmune diseases, the caused superfluous repetition of 21st chromosome. Clinical implications of a Gee's disease can be the extremely poor: a growth inhibition and the weight, leading to an oligotrophy, an anaemia, often diarrhoeia or vomiting. The child becomes irritable and maloaktivnym. Only at a small number of children the diarrhoeia with dehydration becomes perceptible. At suspicion on a Gee's disease at the child with SD diagnostics as a whole standard for this pathology, however, at an estimation of levels of specific antibodies of class IgA it is necessary
Correctly to interpret the obtained data. Researches have shown often lowered level of immunoglobulins of a class And at children with SD. Is false-negative interpreting of indicators of specific antibodies is In that case possible. Thus, at an estimation of level of specific antibodies IgA it is necessary to know level of the general IgA.

Screening on a Gee's disease among children with SD still remains disputable as some researchers do not consider a Gee's disease enough extended among this group of children. In one Dutch research studied validity of inspection of DNA-tipirovanija on leukocytic human antigen HLA-DQ2 or HLA-DQ8 children with SD [144]. It was investigated bukkalnyj an epithelium. The received results of research bukkalnogo an epithelium and peripheric blood were identical. 63 (40,3 %) from 155 surveyed children had positive result HLA-DQ2 or HLA-DQ8. For diagnosis specification proanalizirovanny levels of specific antibodies to endomiziju and fabric transgljutaminaze. The diagnosis proved to be true a small bowel biopsy. The Gee's disease has been taped at 5,2 % of children, that in 10 times above in comparison with prevalence of a Gee's disease among all Dutch population.

The question on expediency of infantile screening on a Gee's disease at children with SD which is spent to some stages is discussed: HLADQ2/8 identifications for an exception of the further inspection of patients with HLA - negative results (that will make more than 60 % of children). Remained HLA - positive patients in the subsequent are recommended to spend immunologic screening with definition of level of specific antibodies to endomiziju and fabric transgljutaminaze which even more will narrow group of children with SD, requiring the further inspection. At remained children the diagnosis will be confirmed by a small bowel biopsy. Such screening has a disadvantage in the form of its high cost. In one work the economic has been shown

Thus, the common opinion about expediency of carrying out screening of researches of a Gee's disease at children with SD is not present now.

The skeletno-muscular system of children with SD is characterised by a relaxation of ligaments, hypermobility of joints and a hypomyotonia [18]. The majority of orthopedic disturbances are caused by a dysplasia of a connecting tissue, owing to an abnormal structure of collagenic fibers. Collagen - the important fiber entering into structure of ligaments, tendons, a cartilage, bones and a skin. One of types of collagen (VI) is transcribed by a gene, located on 21st chromosome. An end result of a hyperproduction of this gene at people with a triad repetition of 21st chromosome is the relaxation of ligaments leading to hypermobility, instability of joints.

One of the major typical orthopedic disturbances is bound to hypermobility of joints at SD - atlantoaksialnaja instability. The large quantity of researches is spent concerning this condition. Radiological signs atlantoaksialnoj instability (atlantodentalnyj (atlantodental) an index more than 5 mm) meet approximately at 10-15 % [101, 104, 42, 33] patients with SD, thus clinical symptoms become perceptible less than at 1,5 % and are almost always bound to a trauma [55, 42, 102].

The raised risk of a disposition of vertebra is often bound to a cervical trauma or sharp movement of a head. The neurologic semiology of a compression of cervical department of a spinal cord is thus shown. The disposition can lead kvadroplegii or paraplegias with the sudden beginning or with previous krivosheej, disturbance of a gait or pathological neurologic semiology [26,25].

According to the reference of researchers of the European association of a syndrome of Down (EDSA) to spend a X-ray inspection of cervical department of a backbone to children with SD it is justified only in the presence of indications. At the same time, the American colleagues insist on an obligatory X-ray inspection of cervical department of a backbone of all children with SD at the age of 3-5 years [30].

In any case, the reference on restriction of the movements bound to the raised overextension of a neck, is considered actual for all persons with a trisomy of 21st chromosome, especially at children's age. Moreover, atlanto-axial instability should be considered anasteziologami at carrying out to the child with SD intubations of a trachea [20]. Radiological screening atlantoaksialnoj instability is spent to all persons with SD, participating in Special Olympic games [9].

The scoliosis also is extended at children with SD. Its frequency among the given group of patients while precisely is not clear. It is considered, that half of teenagers with a trisomy of 21st chromosome have disturbances of a posture of different degree of expression. In one research specify in prevalence of a scoliosis among children with a trisomy of 21st chromosome of peer 8,7 % (all 337 children with SD are surveyed) [89]. Thus, surgical correction of a scoliosis at the majority of patients in this research was not effective.

About 5-8 % of children with SD suffer diseases of a hip joint [115]. Most widespread of them - a subluxation of a hip which often is not bound to an abnormal structure of an acetabular hollow. Frequently, the reason is the characteristic combination of a relaxation of ligaments and a hypomyotonia. Moreover, the hip subluxation almost is never found out at a birth in children with SD. On the contrary, is more often it is diagnosed for these children aged 3-13лет [14]. Characteristic for

Other disease, more widespread among children with SD, than in the general population, is illness Pertesa. The painless lameness with restriction, and further and with full loss of movement in a joint appears its initial clinical symptom.

Epifizeoliz femur heads seldom enough meets at teenagers with SD and, as a rule, it is bound to adiposity and a hypothyrosis.

Prevalence of a dislocation and whirlbone subluxation at a trisomy of 21st chromosome, according to different authors, reaches 20 %. Often is a moderate subluxation with painless restriction of movement in a knee joint. The conservative immobilisation by means of special ortezov usually has good clinical effect [39].

Platypodia (more often plainly strephexopodias) the majority of children with SD suffers. Sometimes there are the serious, progressing forms demanding operative correction.

Anatomic craniofacial features of children with SD lead to development of various ENTs-infringements, characteristic for these children. Narrow nasal courses and a small mouth cause in children with a trisomy of 21st chromosome disturbance of nasal breath. A macroglossia with a microgenia in a combination to a hypotension tongue deviations that promotes breath of the child mainly through a mouth lead. In a consequence, frequency of respiratory infections and a periodontitis at the child with SD is enlarged. Chronic infections worsen nasal breath even more and force the child to breathe through a mouth; the mouth is constantly opened. In some cases as the decision of this "vicious circle" resort to operative treatment in the form of a sphenoidal glossectomy. Results
Such intervention, according to one authors, high enough - nasal breath is restored, speech [94, 75, 141] improves. However other authors have found significant changes in quality of expressional speech at children with SD after a partial glossectomy [95, 84].

Children with SD have a number of stomatologic features. First, a first dentition later enough (only in 8-10 months there is first teeth). The teething order is quite often broken. Features of a structure of a teeth become perceptible: a small crown, roots wide and short. In turn, it brings the contribution to instability and early loss of a tooth at a periodontitis. Partial adontija it becomes perceptible more than at half of children SD. Caries is not the basic stomatologic problem for such patients. Illnesses of the gums which reasons are bound to disturbance of cellular immunity are most extended among them. The special attention in preventive maintenance of stomatologic diseases is given as it is possible for early formation at the child with SD necessary hygienic skills and habits.

Anatomic features: narrow nasal courses, short and horizontally located evstahieva a pipe with its dysfunction are the reason of asymptomatic accumulation of a liquid on the average an ear. In a combination to it, frequent otites raise risk of development konduktivnoj bradyacuasias at children with SD. Also there is neurosensory and admixed a deafness [34, 31]. Depression of hearing of various degree becomes perceptible at 38-78 % of people with a trisomy of 21st hromomsomy [110, 12, 68]. The basic approaches concerning hearing are preventive maintenance and early diagnostics of relative deafness and, at necessity, correction [32]. Late correction of hearing will bring to naught pedagogical efforts even the most perfect program. Expediently regular audiologic inspection of all children with SD, as correction of hearing for overcoming of difficulties in training and interaction with

Anatomic facial features of children with a trisomy of 21st chromosome also are the reason of fixing rhinites and, as consequence, average otites. The allergy, as a rule, does not render influence on a current of fixing rhinites [82]. The reasons are bound to immunologic disturbances, characteristic for children with SD [16]. Middle ear infections are necessary for diagnosing in due time and activly to treat [66].

For babies with a trisomy of 21st chromosome the stridor is characteristic. Cases laringo - and tracheomalacias are described. This circumstance should be considered at an intubation of a trachea of the child with SD. Also, at an intubation, it is necessary not to forget about anatomic features of a nasopharynx of such child and to choose an endotracheal tube of smaller diameter.

Obstructive apnoe in a dream, according to the literature, meets almost at half of people with SD and not always by doctors it is diagnosed [106, 74]. The reasons of this condition at people with a trisomy of 21st chromosome cover all in the same anatomic features in a combination to a macroglossia, a hypomyotonia and, at adults, with adiposity [35, 83, 119, 48]. A snore in a dream, drowsiness, a dream in unusual positions (on a stomach with the turned in knees) can be first signs apnoe. polisomnografija it is shown all patients with SD aged is more senior 4 years, and if necessary - earlier [100]. Unfortunately, surgical treatment (excision of adenoides and tonsils) not always leads to recover [62]. In 30-40 % of cases apnoe recurs. Moreover, at children with a trisomy of 21st chromosome the postoperative period after adenotonzillektomii not always proceeds smoothly (episodes of falling of levels of oxygenation of blood become perceptible) and postoperative restoration passes more longly [17]. In case of an inefficiency of surgical treatment obstructive apnoe in a dream in
Some foreign clinics use video of a nuclear magnetic resonance for reception of consecutive pictures during a dream of the adult or the child with SD for specification of the reasons of relapse of obstruction. The glossoptosia can appear such reason.

All described features of the top respiratory tracts of people with SD should be taken into consideration the anaesthesiologist at a choice for such child of the anesthesiology grant.

With SD those or other disturbances from a sight organ [21, 19] have the majority of children. Often there is a squint (20-47 %), a nystagmus (1129 %), congenital cataracts (4-7 %), the got cataracts (3-15 %), blepharites (7-41 %), refraction disturbances (43-70 %) and a glaucoma (0,7 %) [120, 142, 111, 58, 59, 129]. The carried out researches describe a possible heterotopia and additional plaintive glands. At babies with a trisomy of 21st chromosome the stenosis of lacrimonasal channels often enough becomes perceptible. In most cases conservative therapy appears noneffective, that demands sounding carrying out. The good clinical effect from this procedure becomes perceptible, relapses are rare.

It is obvious, that sight disturbance can adversely be reflected in development of the child with SD and to become a serious obstacle in mastering of necessary skills by it.

At SD changes practically in all links of immune system are described, including levels of immunoglobulins, a caption of specific antibodies, quantity T and In lymphocytes of peripheric blood, etc. Quite often there is a leukopenia, in the absence of clinical implications. The definitive role of all finds up to the end is not studied yet.

The data obtained by different researchers concerning levels of immunoglobulins were various, but as a whole are described as low.

Weak answers to specific antigens become perceptible, that quite often leads to wrong interpreting of results of analyses at inspection of the child with SD as "is false negative".

SD in itself is not contraindication for vaccinal prevention carrying out. It is recommended to spend bacterination, according to the accepted schedules for healthy children in concrete region. Researches on studying of efficiency of vaccines at children with a trisomy of 21st chromosome are carried out. In a larger part they concerned bacterination against a virus hepatitis And and In as the carriage of a virus of a hepatitis In is extended enough at SD. Researches have shown development of the satisfactory immune answer in children with a trisomy of 21st chromosome, inoculated by vaccines against a hepatitis In in comparison with control group [45]. Thus, to inoculate children with SD it is considered expedient.

Disputable there is a question on zinc and vitamin A role in correction of some aspects of immune insufficiency at SD.

Prevalence of oncologic diseases at SD essentially above in comparison with the general population. So, risk of development of a leukaemia at a syndrome approximately in 18 times above.

At the majority of newborns with a trisomy of 21st chromosome right after births become perceptible changes in the hemopoiesis regulation, leading to various disturbances, such as a polycythemia, a thrombocytopenia, a thrombocytosis and others [138]. These disturbances usually have transitional character and arise owing to the imperfect control of hemopoietic cells of one or several lines [90]. Henry with co-authors investigated results of clinical analyses the bloods spent to first two weeks of a life of 158 newborns with SD. They have found out, that the neutrocytosis, a thrombocytopenia and a polycythemia are the most widespread

More than 10 % of newborns with SD in blood analyses have a leukemoid test (a transitional leukaemia). The reasons of occurrence of a leukemoid test are not clear, but are unequivocally bound to additional 21st chromosome. On the one hand, this condition does not demand any treatment. At the same time, it is known about the raised risk at such children of development of a leukosis in more advanced age. In one research it is shown, that at 26 (30 %) babies from 85 with the leukemoid test taped in the neonatal period, within the next 3th years has developed acute mielotsitarnyj a leukosis [47].

The leukaemia manifestation, as a rule, is necessary for the first 5 years of a life of children with SD. In the first 3 years at a trisomy of 21st chromosome the most widespread form is the acute myeloid leukaemia with prevalence of a subtype megakariotsitarnoj leukaemias. Development communication megakariotsitarnogo a leukosis with occurrence at these patients of a somatic mutation in gene GATA 1 [103,57, 149,136, 91,79] is noted.

At children who have ill with a leukosis with SD is more senior 3th years approximately in 80 % of cases the leukaemia and in 20 % — acute mielotsitarnyj a leukosis becomes perceptible acute limfoblastnaja.

Specific treatment of a leukosis for children with SD it is not developed, standard therapy is applied. Thus, children with a trisomy of 21st chromosome and acute mielotsitarnym a leukosis have the best results of treatment and higher indicators of survival rate, than children without a trisomy with the same disease.

Contrary to a leukaemia at SD such solid tumours as a neuroblastoma and nefroblastoma are less characteristic.

Among all population with a mental retardation the number of the persons, suffering an epilepsy, is high (from 20 to 40 %). At SD this indicator much more low, but in comparison with the general population above (510 %) [123]. The manifestation of an epilepsy at patients with SD, according to researchers, is necessary, as a rule, on two age "peaks". First "peak" - first two years of a life of the child. Are infantile spastic strictures more often, meet generalised toniko-klonicheskie and myoclonic attacks less often. Symptomatic infantile spastic strictures in the general population as praviloimejut the bad forecast, however at patients c SD infantile spastic strictures opposite have, as a rule, rather favorable outcome [117]. Second "peak" of a manifestation is necessary for an adult life: 20-30 years or later. In this period are typical tonikoyoklonicheskie attacks [123].

Investigating etiological factors of an epilepsy at children with a trisomy of 21st chromosome it is impossible to forget about that quantity nootropnyh preparations which are activly prescribed to these children without pilot survey. The decision on appointment nootropnoj therapies to the child with SD should be weighed and proved.

The delay of psychomotor and speech development is considered a characteristic sign for all children with SD. On the average, level IQ of these patients makes from 35 to 70, that speaks about average degree of deficiency of intelligence. The serious mental retardation meets among patients with SD seldom enough [30]. Defects in expressional speech and an intellectual development delay prevail at early and average preschool age, thus, the nonverbal, social and game got skills remain rather constant.

It is considered, that stereotypic movements such as trunk rocking, potiranie arms on a breast, razmahivanie arms, are rather extended among children with a trisomy of 21st chromosome (40 %). According to a number of authors, there is a positive correlation between occurrence of stereotypies and a serious delay of intellectual development, and also deficiency of the academic and practical skills [117,118].

Behavioural and psychiatric problems are taped at 18-38 % of children with SD, more often it dizruptivnoe behaviour, such as hyperactivity with deficiency of attention (6,1 %), konduktivnoe (5,4 %) / oppositional (5,4 %), aggressive (6,5 %) behaviour, and a syndrome of obsessional conditions. Disturbances of an autistic spectrum at children with a trisomy of 21st chromosome meets in 7 % of cases. More than psychiatric disturbance, most frequent is diagnosed for 25 % of adults with SD of which serious depressive disorder (6,1 %) or aggressive behaviour [117].

To an estimation of formation of the basic impellent skills at children of early age with SD in the Center of the early help Daunsajd Ap widely apply the standardised method specially developed by Dutch scientist Peterom Lauteslagerom. Method Lauteslagera is based on knowledge of features of development of children with a syndrome of Down, includes techniques of inspection of a level of development of the basic impellent skills of the child, and drawing up of the program of the further employment with it [5].

Summarising the obtained data of numerous researches, for the aid to the practising doctor, in the different countries have been accepted national programs and managements on observation and treatment of children with SD [93, 78, 105]. Regularly these principles are reconsidered for the purpose of elimination of disagreements and entering of additions as soon as there is new knowledge of a syndrome.

So, interested group of physicians together with Committee on genetics of the American Academy of Pediatrics have accepted the Clinical Management on health protection at a syndrome of Down [122] (tab. 1).

Table 1. A medical aid management at a syndrome of Down from 0 till 12 years [122] (transfer of the author).

Name _________________________________________

Date of birth ________________________________

The instruction: In blanks the inspection date is underlined, the shaded squares mean absence of necessity of an intervention.

In a management efficiency of nonconventional methods of treatment, such as cellular therapy also is discussed, application of vitamins is spent to Stomatologic survey from 2 summer age, and further regularly each 6 months.

[1] Roentgenogram of cervical department of a backbone is spent at the age of 3-5 years. In the subsequent, under indications and at participation in Special Olympic games.

[1] Antibodies to fabric transgljutaminaze and level of the general IgA.

High doses and others. Ethical questions, including ways of the report on the diagnosis of the child to his parents are affected.


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Scientific source Semenova Natalia Aleksandrovna. STATE OF HEALTH of CHILDREN With the SYNDROME of Down. The dissertation on competition of a scientific degree of the candidate of medical sciences. Moscow - 2013. 2013

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