In drawing up the pedigree doctor uses standard techniques and symbols.

The individual, which begins with genealogical research, - a proband. Brothers and sisters of the proband - a proband siblings (family, cousins, second cousins).

Each person included in the family lineage, gets its symbol (square stands a man, a circle - a woman), and cipher, consisting of two digits (Roman denotes the generation number in the pedigree Arabic - an individual number in the pedigree, the numbering of the members of one generation is performed sequentially from left to right ).

There are other symbols (symbols): abortion, heterozygous carriers of the mutant gene, mono- and dizygotic twins, miscarriage (spontaneous abortion), one dead, the deceased individual, etc. Under the family lineage placed her legend decryption conventionally accepted designation. Schematic representation of a family tree begins with the proband (marked by arrow), which is usually located in the latter (under study) family generation. Family pedigree should cover at least two to three generations of relatives. Limitations in the number of analyzed generations there, and the more they investigated, the more reliable are the conclusions.

Next collected and designated data on children of the proband (if an adult) and his sibs (including a sequence of pregnancies and their outcomes).

Then, gather information about relatives on the mother's side, first of all proband mother, her siblings and their children, and then all of my grandmother on the mother, her siblings and their children and grandchildren. If possible, gather information about the great-grandmother of the proband. In the same sequence gather information about relatives on the father.

The next step - an analysis of the causes of an existing disease (trait). There are crucial: the value of the sample on which is made up pedigree (2-3 generations of relatives), the completeness of the registration carriers feature and other indicators. It must be remembered phenocopies disease.

The current value of clinical-genealogical method can not be overestimated. The collected genealogical data doctor can determine the proband hereditary or non-hereditary nature of the disease (individual symptom), version of his inheritance (traditional monogenic or polygenic or non-traditional options), set in the case of monogenic variant localization of the abnormal gene on autosome or allosome (ie mapped gene ), and to determine its frequency distribution in a population.

Clinico-genealogical method was successfully applied to the analysis of coupling of the disease gene from his marker (marker locus). This analysis is widely used in the diagnosis of heterozygous states, prenatal diagnosis, early diagnosis of the disease in the preclinical phase, diagnosis and erased forms with late manifestation of the disease. For example, with the help of gene linkage analysis AIV diagnosed hemophilia, Duchenne muscular dystrophy, Becker, myotonic dystrophy, hypoplasia syndrome Nail patella and the lack of many other diseases.

After collecting genealogical data doctor starts an objective examination of the proband and his family members.

Laboratory methods are widely used in clinical practice. We study the excretions and secretions, feces, blood, exudates and transudates. They are held in the following areas:

1) study of the general properties of the material, including physical (quantity, color, appearance, odor, na¬lichie impurities, relative density, and so on. D.) And the chemical study to determine pri¬sutstviya of certain substances (substances normally contained in body fluids and substances which po¬yavlyayutsya only in diseases);

2) microscopic examination;

3) bacteriological and virological studies;

4) Serological diagnosis;

5) histology and cytology punctate bodies;

6) immunological studies.

Actions of nursing staff in the preparation of patients for clinical and diagnostic laboratory tests.

Instrumental study of the nervous system provide the most objective information about the presence of pathological changes, and are widely used in pediatric neurology.

Craniography (x-ray of the skull). It is used to detect defects in the bones of the skull, a change in its internal relief of pathological calcifications in the brain (toxoplasmosis, hydatid disease, and others.) "Congenital malformations. X-ray is usually performed in two projections (face and profile).

In the specialized neurological and neurosurgical departments are often used contrasting methods of brain and spinal cord radiography pneumoencephalography (PEG), ventrikulo-, myeloma and angiography.

Transillumination (transillumination). It is used in the diagnosis of hydrocephalus, sub- and epidural hematomas.

To conduct the study needed a light bulb of 100 watts, mounted in a special tube, easy-to-raying the bones of the skull. The study was conducted in a darkened room. With the penetration of the concentrated beam of light through the thin bone of the skull of the newborn baby or the first year of life in places where there is a pathological CSF glow (Fig. 28). Normally, around the glow tube in the form of the corolla in the frontal and parietal bones of the skull does not exceed 1.5-2 cm in the occipital bone, 1 cm. With the development of hydrocephalus glow can be spread around the skull. When sub- and epidural hemorrhages glow in no bruising.

Echoencephalography. Based on the ability of intracranial structures having different acoustic impedance, partly reflects the direction of the ultrasound. Response ultrasonic vibrations are converted into electrical impulses that are registered on echoencephalography screen in the form of the curve. Using this method allows you to neurological, neurosurgical clinic to detect three-dimensional processes in the brain (tumor, bleeding, abscesses, hydrocephalic-hypertensive manifestations and others.). Signals comprising echo encephalogram normally include an initial complex, the median echo (M - echo) and the final complex. The most constant is the echo of the middle brain structures (III ventricle, the pineal gland, and others.), Usually located in the same place on the screen in the study encephalograph right and left.

Electroencephalography. This registration of bioelectrical activity of the brain using a multichannel encephalograph, amplifying and recording biotoki brain. A study carried out in a specialized neurological department in the presence of shielded from the interference of light and a sound-proof chamber.

To record encephalograms on the child's head, respectively, of the projection of the skull lobes applied electrodes which are lubricated with a special paste, which has a high electrical conductivity. The electrodes are usually fastened flexible helmet. During the study, the child should be in a calm relaxed state, because even the occasional muscle movements cause additional biotoki.

Electroencephalogram (EEG) is a graphical representation of wave rhythms. In a healthy person at rest and wakefulness a-waves are detected at a frequency of 8-12 cycles per second and an amplitude of 40-70 mV and (3-waves with a frequency of 16-30 cycles per second and an amplitude of 10-30 mV.

Rheoencephalography. This registration of changes electrical resistance of the brain by passing through AC high frequency and low power. The electrical resistance and the electrical conductivity of tissue depends on their blood supply, so the method rheoencephalography aims to study cerebral hemodynamics. When the expansion of the brain blood vessels and blood filling a significant electrical resistance decreases, and the narrowing of vessels - increases. Register of electrical resistance oscillations allows you to get an idea of ​​the state of vascular tone, the size of their blood supply, the state of the walls of cerebral blood vessels.

Normal rheogram is a regular wave like pulsovym. They distinguish the ascending portion and the descending part of the top. Normally, the apex slightly rounded. Rising part is seen as a-time (with 0,08-0,11) and characterizes the degree of elongation of the vascular wall. Downward part is defined as (3-time (0.5-0.8 s) and characterizes the elasticity of the vascular wall. The magnitude of the amplitude of the wave rheographic judge the severity of blood supply to the brain vessels. Rheoencephalography in combination with other methods helps identify conditions caused by cerebrovascular .

Electromyography. This registration of bioelectrical activity of muscles using a cathode-ray oscilloscope or stub. Used to detect movement disorders and topical diagnosis of focal lesions of the nervous system.

To avert the potential from the measured bioelectrical muscle, cutaneous electrodes apply a diameter of 0.5-1 cm. Metal plate electrodes with gauze pads soaked with saline, fixed on the skin bandages or rubber bands. The distance between them should be 1.5-2 cm. The registration is carried out at arbitrary contraction of muscles and tonic tension. EMG is a curve which takes into account the wave height, frequency, duration and waveform.

Investigation of cerebrospinal fluid is often necessary for the diagnosis of meningitis, encephalitis, tumors, head injuries and other diseases. Spinal fluid obtained by lumbar puncture. In the specialized neurological and neurosurgical institutions sometimes resort to suboccipital and ventricular puncture.

Lumbar puncture is usually performed in the treatment room or operating room, better on an empty stomach.

Lecture 16. The study of mental activity status

Objective: to give information about the clinical examination methods

Plan:

The study of mental retardation

Current status of the study oligophrenics

The study of mentally retarded children do not end examination in medical and educational commission. It continues in the institution where the child directs the Commission.

The objectives of this study are different. Sometimes it is necessary to clarify the status of the child. This happens when a very complicated case in the differential-diagnostic attitude and one-time inspection in the Commission was insufficient. In conclusion, medical and pedagogical commission writes: "To send to a special school to provisionally re-examination in a year." These cases are rare, but they have a special responsibility on the teachers of the special school and require careful examination of the child. It must be from the first day at school to clarify the class, the group, in accordance with the general development of the child level, the extent of its knowledge and skills. A deep and comprehensive study is needed to improve the efficiency of the educational process. Knowing the individual characteristics of each child, the teacher has the opportunity to choose the appropriate methods, ways and means of corrective action.

Systematic and focused study allows us to trace the dynamics of the development of children in a timely manner to find new areas of work with them, prognozirovatih state, make recommendations in the choice of profession, to maximize their social rehabilitation.

In conducting the study should be guided by the same principles as in the examination of children in medical and pedagogical commissions: an integrated, comprehensive and holistic dynamic study of children taking into account their specific features.

The stages of studying mentally retarded children

The beginning of work with children preceded familiarize teachers with their personal affairs (medical and pedagogical documentation). Survey protocols in the commission provide the first information about the child, which allows teachers to correctly determine the child's place in the team, interested in his studies, to establish contact with him. It is important to take into account the state of hearing, sight, to immediately put his respective party. Materials characteristics reveal personality traits that should be considered already at the first contact with the child. If possible, it is necessary to speak in advance with the parents of the child.

The next stage of the study puts special diagnostic purpose. In the context of supporting the schools, this work is carried out in the first two weeks of the school year. The program of studies includes "revealing lessons", which with the help of special assignments specified state of the mental processes of the child, compliance with this class. These experimental tasks are organically part of the learning process. Targeted studies of children, conductive under the special program, helps to identify certain aspects of the child's personality, which have not been seen by members of the commission at a short survey.

After the first two "diagnostic" weeks beginning stage of the "current" study, which lasts the entire period of the child's stay in the institution.

A very important issue is the design of the study materials the children. In the gardens, schools, children's homes for mentally retarded decided to keep a diary of observation.

On the first pages of the diary written general information about the child's home address and parents' workplaces, data from the history of the development, diagnosis, garden figures, school, family (after the test conditions the teacher home education). All this information should always be on hand at teachers. Thereafter, the recording material begins the current study children.

A mandatory requirement for keeping a diary is a regular records and analysis of observations. It is recorded, not all, but only the fact that increasingly characterizes the studied phenomenon, reflecting the progress in development of the child, or, conversely, indicates a deterioration of his condition. Entries must be precise and objective, fixed by the fact, rather than a generalized teacher's opinion of him. We can not postpone the recording.

The blog made not only personal observations of the teacher, but also observing other teachers, technical staff, parents, children, and so on. N. In this case, be sure to note, from whose words made entry