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research assotsiirovannyh with a syndrome of Down of diseases.

For definition of frequency and clinicodiagnostic features assotsiirovannyh with a syndrome of diseases at children with SD in investigated group inspection according to the schedule (tab. 2 see) has been spent.

Thyroid gland diseases meets according to different authors approximately at 28-40 % of people SD and with the years this number is enlarged to 54 % [54,131].

Thyroid gland diseases in our research have been found out at 93 (50 %) children. A depression of function, including

The subclinical hypothyrosis, became perceptible at 87 (46,77 %), and rising - at 6 (3,23 %) children with a trisomy of 21st chromosome (fig. 18).

Drawing 18. A functional condition of a thyroid gland at children with SD.

The age of children in which the thyroid gland pathology for the first time has been taped, was distributed as follows. The early manifestation - on the first year of a life prevailed. From them to 20 babies with SD (10,75 %) the diagnosis has been established aged till 3 months. At 70 (37,64 %) the thyroid gland pathology is taped since 3 months till 1 year, at 68 (36,56 %) - from 1 year to 3, at 28 (15,05 %) - are more senior three years (fig. 19).

Among children with SD till 1 year there was a congenital hypothyrosis is more often. It is diagnosed at 31 (35,13 %). At 4 children with a congenital hypothyrosis neonatal screening of a pathology has not taped. Congenital gtpotireoz at these children has been established by aim research of their thyroid status. At one child at dynamic observation it is established tanzitornyj character of disease, replaceable therapy has been cancelled.

Drawing 19. Distribution of age terms of revealing of a pathology of a thyroid gland at children with SD.

All cases of a transitional hypothyrosis 11 (12,64 %) are taped by purposeful research of thyroid function of children with SD. Results of screening in all cases were normal. Group of children, suffering a transitional hypothyrosis, children have made basically the born prematurely and-or having signs born prematurely

morfofunktsionalnoj dismaturities. All children with a transitional hypothyrosis received the replaceable therapy prescribed the endocrinologist, under the level control tireodnyh grmonov.

The most numerous group among children with a trisomy 21st chromosome was made by children with a subclinical hypothyrosis. It has been diagnosed at 45 (51,6 %), that has made 24,19 % of the general number of surveyed children. In most cases, especially to children with SD about 1 year is elderly, were prescribed nizke thyroxine doses under the control of level of thyroid hormones. In some cases there was a spontaneous normalisation of level TTG or as a result of reception of preparations of iodine.

Clinical implications of a hypofunction of a thyroid gland, such as a macroglossia and a hypomyotonia are similar to implications of the syndrome of Down. At survey of the child with a trisomy of 21st chromosome one of the first clinical implications, allowing to suspect at it a hypothyrosis, there was a fixing icterus of newborns (fig. 20). Easy ikterichnost remained till 1 month and is longer at 15 (17,24 %) than children.

Later, parents complained of constipations at their children, which became perceptible at 47 (54,02 %) children with SD and a thyroid gland hypofunction. According to the literature, constipations against a hypothyrosis become perceptible at 23 % of children with SD [6].

Drawing 20. Frequency of clinical signs of implications of a hypothyrosis at children with SD

At 31 (35,63 %) the child with SD and a hypothyrosis at survey became perceptible mramornost, dryness of integuments, the general slackness, often cold to the touch the extremities, exfoliating fingernails, dry, fragile hair. Predilection to a bradycardia was quite often taped. The expressed hypomyotonia became perceptible at 29 (33,33 %) children with SD and a hypothyrosis.

Unfortunately, we have faced several cases of late revealing of a serious hypothyrosis.

So, boy Ivan R.RoDilsja also lives in the city of Moscow. Has addressed at the age of 3 years. It is referred by the teacher of the centre of the early help to Children with SD "Welfare fund DausajD Ap". At survey Deficiency of the weight, the expressed hypomyotonia, a hypodynamia, a bradycardia, an appreciable delay of psychospeech development attracted attention. At the child obstipations became perceptible. From the anamnesis: the child from 1 pregnancy, births in time. At a birth mass of the boy 2850 g, the Length 48 see Right after births is suspected SD. The regular trisomy of 21st chromosome is taped. Screening is taken in Dekretirovannye terms. It is advised by the endocrinologist at the age of 1,5 years: « Data for an endocrine pathology at the child with a syndrome of Down are not present now ». The blood analysis was not prescribed to level of thyroid hormones. In 3 years ТТГ=900 honey/ml, Т4 St. = 0,5 mmol/l, level anti-TpO - within norm. According to ultrasonic research the expressed hypoplasia of a thyroid gland is taped. The child has been referred to an endocrinologic Dispensary. Replaceable therapy by a thyroxine is prescribed. The condition of the boy has improved: became more active, the chair was normalised. The rasping delay of psychospeech development HOWEVER took place.

The Gee's disease meets, according to the literature, at 5-7 % of children with SD [143] and almost at third asymptomatic or its erased current becomes perceptible. According to the spent work the Gee's disease has been established only at 7 (1,36 %) children with a trisomy of 21st chromosome by level definition
Specific antibodies of class IgA (to endomiziju and transgljutaminaze) and level of the general Ig A, subject histological research of a small bowel.

Immunologic screening of a Gee's disease to all children from investigated group was not spent. DNA-tipirovanie HLA-DQ2/DQ8 also it was not spent. Standard inspection for a Gee's disease establishment was prescribed only under indications. Possibly, low frequency of the given nosology also is bound to it in the received results among children with SD. Probably, hypodiagnostics of a Gee's disease at children with a trisomy of 21st chromosome took place. The given circumstance shows expediency of immunologic inspection for revealing of a Gee's disease with definition of levels specific and the general IgA at all children with SD at the age of 2 years. It will allow to avoid diagnostic and therapeutic errors and will raise level of rendering of medical aid to children with a trisomy of 21st chromosome.

Disturbances biliarnogo a tract became perceptible at 15 (2,92 %) children with SD. At 5 children according to ultrasonic inspection it is taped zhelchekamennaja illness, at a two - a deposit in a cavity of a cholic bubble, at a two - a cholestasia syndrome, at 1 sladzh-syndrome. The hepatomegalia is taped at 4 children and at one - a hepatosis against reception antikonvulsantov.

Occurrence and advance of the got orthopedic pathology at children with SD is bound to a dysplasia of a connecting tissue caused by an abnormal structure of collagen owing to presence of three spears of gene COL6A2. Hypermobility in a combination to a hypomyotonia is a basis for occurrence of characteristic orthopedic diseases.

The most typical disturbance, according to the literature, at SD is atlantoaksialnaja instability which is taped by carrying out of radiological inspection, from 4 summer age. In our research radiological screening was not spent. The roentgenogram of cervical department was prescribed only under indications.
Atlantoaksialnaja instability has been found out only at 21 (4,09 %) the child from the general number of children. Possibly, such low interest in research is bound first of all to absence of screening, and also with the years (till 8 years) investigated children. Atlantoaksialnaja instability at SD is characteristic for children of advanced age and adults.

In total children having this or that disturbance from the party opornoyodvigatelnogo of the apparatus, it has appeared 190, that has made 36,96 %.

The orthopedic pathology caused by delicacy of a connecting tissue demonstrates at children is more senior year when they start to go independently. Plainly-valgusnaja the equipment and deformation of feet are taped at 45 (8,75 %) children. The wrong equipment of feet involved the H-shaped curvature of feet (genu valgum) which has been diagnosed at 10 (1,95 %). The longitudinal platypodia became perceptible at 53 (10,31 %) children. O - the figurative curvature of feet (genu varum) is taped at 2 (0,39 %) children with SD to 8-year-old age.

Thorax deformation, including postoperational (correction of a congenital heart disease) became perceptible at 21 (4,09 %) the child with SD. Posture disturbance, a scoliosis, a kyphoscoliosis have made 1,95 %. Illness Pertesa is diagnosed for one child (0,19 %) with a trisomy of 21st hromomsomoj (fig. 21).

It is known, that at children with a dysplasia of a connecting tissue the orthopedic pathology has predilection to advance during the periods of their active growth. Considering age of investigated children (till 8 years) it is possible to assume, that the number of orthopedic disturbances will be ready above at teenagers and adults with SD. The factor promoting augmentation of frequency of an orthopedic pathology among patients with SD is the superfluous mass of a body which is extended at teenagers and adults with a trisomy of 21st hromosomomy.

Drawing 21. Structure of an orthopedic pathology at children with SD.

Anatomic features of maxillofacial area in a combination to immunologic disturbances at children with SD are the reason of fixing inflammatory diseases of ENTs-bodies. Frequent rhinites suffered 25 (10,89 %) from surveyed children. The hypertrophy of adenoides became perceptible at 38 (7,39 %) children a trisomy of 21st chromosome. Otites have transferred 32 (6,23 %) the child.

Hearing depression is taped at 27 (5,25 %) children with SD to 8 summer age. Prevailed konduktivnaja relative deafness, it has been taped at 20 of 27 children hard of hearing that has made 74,07 %. Senso-NEURAL relative deafness is diagnosed at 5 (18,52 %) children with a trisomy of 21st chromosome. At 2 (7,41 %) - admixed deafness. Carrying out of audiologic screening at newborns has made positive impact on revealing of relative deafness at children with SD.

The congenital stridor at the expense of softness of cartilages of a larynx became perceptible almost at third of children with SD - at 119 (23,15 %). At 3 (2,52 %) from these children it has been diagnosed laringo-traheomaljatsija. High prevalence of a stridor should be considered by anaesthesiologists if the child requires a trachea intubation in a maternity home or in connection with surgical correction of congenital defect at early age. These children demand special attention

Clinical implications obstructive apnoe in a dream at children are more senior 2 years (a snore in a dream, a dream in unusual positions - on a stomach with the turned in knees, day drowsiness) have been found out at 179 (34,82 %) children (fig. 22). polisomniografija it has been spent only to three children (0,58 %) from the general number and at all the diagnosis has been confirmed.

Drawing 22. Distribution of an ENT-pathology at children with SD.

Features of a structure of an eye in a kind epikanta, including the return, are bound to features of a structure of the lacrimonasal channel. The stenosis of the lacrimonasal channel with or without a dacryocystitis among children with a trisomy of 21st chromosome has been noted at 329 (64,0 %) investigated children. Thus, sounding provodeno in 29 (8,81 %) cases, as a rule, with good clinical effect. Relapse became perceptible only at 2 (6,9 %) from 29 zondirovannyh children.

Sight disturbances meet often enough among children with SD.

Congenital cataracts was are diagnosed at 7 (1,36 %) in the investigated
To group of children. The nystagmus became perceptible at 31 (6,03 %), the squint met often enough, and has been established at 90 (17,516 %) children with a trisomy of 21st chromosome. Eye albinism has been taped at one child that has made 0,19 %.

The partial atrophy of an optic disk is diagnosed at 18 (3,51 %) children with SD. Angiopatija retinas - at 28 (5,45 %), a retinopathy - at 7 (1,36 %) from surveyed children.

Refraction disturbances are a frequent pathology and quite often progress. The hypermetropia is taped at 72 (14,01 %) children with SD, a myopia - at 33 (6,42 %), an astigmatism - at 55 (10,7 %), mainly

Hypermetric, an anisotropia - at 6 (1,17 %), an amblyopia - too at 6 (1,17 %) children with a trisomy of 21st chromosome (fig. 23).

Drawing 23. Disturbances of a refraction at children with SD.

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. Late diagnostics and correction of sight at children with SD can reduce to a minimum efficiency of employment even the advanced pedagogical programs.

Children with SD have the lowered indicators of immunity and are inclined to frequent and-or fixing infections. Among surveyed children on the first month of a life infectious diseases have transferred 133 (25,87 %) children. Thus, every tenth child had more than one centre of an infection. The sepsis in the neonatal period has been diagnosed at 4 (0,78 %) children with a trisomy 21­й chromosomes. A pneumonia in the neonatal period suffered 89 (11,48 %) children, and almost half from them (52,27 %) in the pre-natal period. In structure of the centres of an infection at children with SD the neonatal period after a pneumonia are extended konjuktivit and an omphalitis, which have been diagnosed at 43 (32,33 %) and 15 (11,28 %) newborns accordingly. The infection of urinary system is established in the neonatal period at 3 (2,26 %) children with SD. Other infections, such as a rhinitis, a fungoid dermatitis, an otitis met at 11 children of the period novorozhdennosti and have together made 8,27 %. (Fig. 24).

Drawing 24. Structure of infectious diseases at children with SD in the neonatal period.

Aged after a year a pneumonia have transferred 145 (28,21 %) children with SD. From them against a congenital heart disease the pneumonia proceeded at 46 (31,72 %) children with a trisomy of 21st chromosome.

To estimate hematological disturbances it has appeared difficult enough. It was not presented possible to find out prevalence of a leukemoid test (transitional lejemija) from newborns with SD. It is bound by that the clinical analysis of blood in the neonatal period was spent not to all children.

The immunologic status also was not investigated rutinno because of its inaccessibility on OMS and high cost of this analysis.

Among hematological disturbances, the anaemia has been found out at 46 (8,94 %) children with SD. The proof leukopenia became perceptible at 35 (6,81 %). Thus, clinical implications in the form of frequent infections and-or infectious postoperational, including after correction VPS, complications at these children were not. The thrombocytopenia is diagnosed at 10 (1,95 %) children and accompanied petehialnoj by an eruption. Had idiopathic character. It was stopped spontaneously. At 3 (0,58 %) children with SD it is diagnosed trombotsitopatija. Children were observed and received treatment in the hematological centre. The acute leukosis (myeloproliferative) in investigated group has been taped at 7 (1,36 %) children with a trisomy of 21st chromosome (tab. 8)

Table 8.

Hematological disturbances at children with SD.

Number of the diseased %
Anaemia 46 8,94 %
Leukopenia 35 6,81 %
T prombotsitopenija 10 1,95 %
Trombotsitopatija 3 0,58 %
Acute leukosis 7 1,36 %

At all diseased the leukaemia demonstrated to three summer age. Data about leukemoid test presence in the neonatal period at these children are absent, as the blood analysis at a birth was not spent by it.

Allergic implications at children with a 21-chromosome trisomy meet often. The Atopichesky dermatitis is taped at half from surveyed children - at 261 (50,78 %) the child with SD. The Food allergy suffered 8 (1,56 %) children SD. The bronchial asthma and a neurodermite became perceptible with identical frequency and have made in the sum of 1,17 %.

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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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Other medical related information research assotsiirovannyh with a syndrome of Down of diseases.:

  1. THE TABLE OF CONTENTS
  2. THE URGENCY.
  3. 1 characteristics of a syndrome, prevalence, genetics
  4. structure assotsiirovannyh with a syndrome of Down of diseases. Features of implication, diagnostic and therapeutic approaches.
  5. research assotsiirovannyh with a syndrome of Down of diseases.