Research was spent on the basis of the Moscow Medicogenetic centre of advisory-Diagnostichnsky unit DGKB № 13 of N.F.Filatova where 514 children with SD, brought up in a family were observed. Children who are on education out of a family were excluded because of possible distortion of results owing to influence of effects deprivatsii.

Age of children from 0 till 8 years. Middle age of the primary reference has made 12,2 months. Duration of observation has made 4,5 years. All parents have been acquainted with spent research and signed the informed consent to participation in it.

241 girl and 273 boys were observed. Were born the full-term 441 child (85,8 %), not full-term on term 351 ned — 73 (14,2 %). Half of surveyed children (52,7 %) were on thoracal feeding to 3месячного age, and only 28,6 % of children nursed till 6 months and is longer. A feeding up entered on age. By working out normonramm anthopometrical indicators data of children who are on any of listed kinds of feeding were considered.

At all patients SD has been confirmed by chromosomal research. The regular trisomy of 21st chromosome has been taped at 477 children (92,81 %), children with translokatsionnoj and the mosaic form there was an approximate peer quantity and has made accordingly 20 (3,89 %) and 16 (3,11 %) the person. At one child the trisomy of 21st and H - chromosomes (a karyotype 48, HHH, +21) is taped - that has made 0,19 %. All children are advised clinical genetikom.

At 371 (72,18 %) the child in the family anamnesis at parents became perceptible the somatopathies including a pathology of a gastroenteric tract, cardiovascular system and others.

The burdened akushersko-gynecologic anamnesis in the form of a spontaneous abortion or not developing pregnancy, became perceptible at 178 (34,63 %) mothers, more than 2 abortions - at 26, that 5,06 % from the general number of mothers have made.

Prenatal screening of a syndrome of Down to the majority (376 mothers - 73,15 %) mothers was not spent, two (0,39 %) from screening have refused. Among mothers, screening which has been spent at 79 (57,24 %) became perceptible is false negative result; at 59 (42,75 %) screening indicators have taped high risk of a trisomy of 21st chromosome at a foetus. Further, 57 (96,61 %) from these mothers from invasive research have refused and only 2 (3,39 %), having received the changed karyotype of a foetus, have made decision to prolong pregnancy despite established diagnosis SD.

The given labours were the first at 125 (24,32 %) mothers, the second - at 274 (53,31 %), the third - at 82 (15,95 %), the fourth - at 23 (4,47 %), the fifth - at 8 (1,56 %), the sixth - at 2 (0,39 %) mothers.

At the primary reference the anamnesis collecting, objective inspection and the analysis of the medical documentation was spent. On the basis of known data in the literature the observation plan is developed. Children of investigated group were observed according to the presented schedule on the basis of Konsultativnoyodiagnostichesky unit DGKB № by 13 it. Filatova (tab. 2). The total quantity of the spent additional researches is presented in table 3.

Table 2. The schedule of inspection of children with SD.

Research age in years

0-1 month 1 1,5 2 2,5 3 3,5 4 5 - 8
kariotip/genetik +
The general survey + + + + + + + + + +
Electrocardiogram cardiology, EhoKG + - + - + - + - + +
Audiologic inspection Screening - + - + - + - + +
Thyroid hormones TTG Т4св + - + - + - + - + +
NSG + +
Stomatologic survey - - - + + - + - + +
Development and the early help + + + + + + + + + +
The neurologist + + + + + + + + + +
The oculist + + + + + + + + + +
The orthopedist + - + - + - + - + +

Table 3

The list and volume of the spent researches.


Number of the spent researches

Karyotype 514
EHOKG till 1 year 479
EHOKG after 1 year 364
Ultrasonic abdominal cavities/kidneys 276
The blood analysis (the thyroid status) 186
NSG till 1 month 275
NSG after 1 month 222
EhoEG 24
EEG 61
Audiologic testing 514
Dermatoglyphics (probands) 107
- Parents (mothers/fathers) 88/36
- The control (ZH/M) 53/40

All children, even in case of absence of clinically expressed symptoms of a heart disease, were referred on electrocardiographic (electrocardiogram) and echocardiographic (EHOKG) inspection and, if necessary, on treatment to corresponding profile cardiological/kardiohirurgicheskie hospitals and dispensaries.

Research of level of thyroid hormones in blood right after births and annually was recommended further to all patients, at their normal results. At revealing of a pathology of a thyroid gland children were observed at the endocrinologist, additional inspections were spent, was prescribed sootvetsvujushchee treatment.

Clinical analyses of blood and urine were spent in dekretirovannye terms for healthy children. Raschitan percent of children at which hematological disturbances have been taped. Proof the changes remaining 6 months and dolee were considered.

During the period from 1 till 4 months of a life ultrasonic research of organs of an abdominal cavity and kidneys was recommended to children.

Audiologic screening was spent by the newborn in a maternity home, since the extremity of 2009. At the age of 8-12 months of a life research of hearing by means of carrying out audigrammy with the subsequent annual audiometric control of hearing was recommended to all children.

All children regularly looked round experts: the oculist, the orthopedist, the neurologist and others according to the regulated terms established for healthy children, and in need of a thicket.

Under indications children were referred on consultation of the immunologist, a hematologist, the neurosurgeon, epileptologa where it spent additional specialised inspection and, at necessity, treatment.

At digestion disturbances, according to the clinical implications, including koprologicheskoe feces research, feces research inspection was prescribed to the maintenance of carbohydrates, level of specific antibodies in blood was defined, etc. In cases of obstipations children consulted the surgeon for an exception of illness Girshprunga. Treatment was spent, according to the established diagnosis. Immunologic
Gee's disease screening, and also DNA identification HLA-DQ8\DQ2 were not spent.

The radiological analysis atlantoaksialnoj instability was prescribed under indications to children is more senior 4th years.

polisomnogramma it was spent in rare instances in connection with absence of availability of its carrying out under policy OMS. At suspicion consultation of the otolaryngologist and electroencephalographic research was prescribed to a syndrome obstructive apnoe in a dream (EEG)

Stomatologic inspection and treatment has appeared most technically difficult in a kind of psychoemotional features of children with SD, and, in most cases, was spent under a narcosis.

At children of early age rates of psychomotor and speech development were regularly estimated. A part of patients received the psychogogic therapy recommended by neurologists. The estimation of electric activity of a brain, and also ehoentsefalograficheskoe researches and a magnitno-resonant tomography of a brain was prescribed experts in indications and, in some cases, before application nootropnyh preparations.

Children and their parents received specialised psihologoyopedagogicheskuju the help in the Center of the early help of Welfare fund Daunsajd Ap where were observed from the moment of the reference till 8 years.

For research of rates of psychomotor and speech development retrospektivno terms of occurrence of skills at children in the given group have been estimated. Children have been included in group with a trisomy of 21st chromosome also, the age of which primary reference in the Center of the early help made more than 12 months. Terms of the beginning of rendering of the pedagogical help to children, frequency of visits of the expert-defektologa, and also absence or presence nootropnoj therapies were not considered. Were raschitany medians, and also

For working out normogramm to children at the age from 0 till 1 year dynamic measurement of length, masses of a body and a head circle by standard techniques [8] was spent. Measurement of length of a body was carried out by means of a special height metre in the form of a board in length of 80 sm, in the width 40 the Mass of the child see was defined by means of special electron balances. Children were weighed without clothes. Measurement of a circle of a head was spent by means of a centimetric tape on the maximum perimetre of a head: behind the tape was densely imposed on occipital hillocks, in front - on nadbrovnye arches.

Are developed normogrammy anthopometrical indicators on parametrical (sigmalnomu) to a method. Results of calculations are presented in tables 4, 5. Also normogrammy are calculated

By nonparametric method also are presented in a kind pertsentilnyh schedules in the Appendix.

Rates of physical development were compared to rates of healthy children (indicators the CART) [146], and also with indicators of physical development of children with SD other countries (the USA, Portugal). Indicators of physical development of not full-term children estimated according to skorrigirovannym age, and till 40 weeks skorregirovannogo age in comparison with normogrammami pre-natal growth of a foetus [43].

The analysis of a dermatoglyphics of fingers and palms of children with SD and their parents was spent by means of prints put on a paper on paint agents. The cristarum drawing was studied, types of patterns, palmar cords and other characteristics of a dermatoglyphics were defined. Prints of fingers and palms of children with any form of a trisomy were considered. Data have been brought in the table. As control group prints of fingers are received and
Palms of employees of advisory-diagnostic unit DGKB № 13 of N.F.Filatova. Distant relatives of probands also have been included in control group (grandmothers, the grandfathers healthy polusibsy and cousin sibsy of probands).

For the purpose of construction of tables of physical development the obtained anthopometrical data have been grouped on a floor and age. In each subgroup average value of anthopometrical indicators and a standard deviation have been calculated.

For construction pertsentilnyh curve anthopometrical indicators medians, and also value 3, 10, 25, 75, 90 and 97 pertsentilja in each subgroup are calculated. Kolmogorov-Smirnova criterion was applied to an estimation of uniformity of the allocated subgroups.

Revealing of reliability of differences of groups was spent by means of criterion the God-send — Uitni.

All statistical processing of clinical data, and also construction of schedules it was made by means of standard methods of statistical processing and a package of computer programs Microsoft office, SPSS.

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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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