Microcephaly: Symptoms and Treatment
Microcephaly is such a pathology diagnosed in children, in which the skull is reduced to a significant size, which is reflected in the size of the brain. It, in turn, is also subject to the corresponding reduction. The microcephaly, the symptoms of which manifest themselves in the form of these changes, is combined with the normal dimensions of the remaining parts of the body, but again, due to concomitant brain changes, is characterized by mental insufficiency of the patient, manifested in one way or another.
As is clear from the description above, microcephaly is a serious enough defect, a pathology that affects the brain, and, consequently, affects the activity of the central nervous system. Circumference of the skull is reduced to 2-3 sigmoid abnormalities, if we compare parallels with the skull circumference of patients by average age and age criteria. Microcephaly, in one form or another, is diagnosed on average in one case per 10000, with an equal ratio in both sexes. Approximately 10% of cases of microcephaly cause development in patients with oligophrenia.
If we consider specific figures that determine oligophrenia in newborns, it is known that the diagnosis of microcephaly is established with a head circumference within a maximum of 25-27 centimeters. For a more understandable picture, we add that the normal indices of the circumference of the head of a newborn child are on the average 35-37 centimeters. Changes in the brain in this pathology are also significant, in particular, it can be noted that its mass is about 250 grams at the initial stage, while with normal development of the child this figure on the average corresponds to 400 grams. Later, its mass slightly increases (up to 500-700 grams with the norm of brain weight in a healthy person in 1020-1970 grams), but still remaining at the same time within the pathology, thereby defining an unchanged picture of the general condition of the patient.
Thus, the pathological change in the head can be almost twice as normal, although some medical statistics also show that when compared with the parameters of a normally developing brain, these deviations can reach a threefold decrease.
Microcephaly can be congenital, that is, diagnosed already at the time of the birth of the child, or acquired, that is, to develop during the first year of his life. Visual changes in such cases are manifested in such a way that the head does not grow, the size of the brain is unchanged (that is, it also does not increase), the development of the face (like the body as a whole) occurs as it should be in a healthy person. The head as a result of such changes remains small, the forehead is sloping, the face is large. In accordance with the gradual growth of the child, the fact of the existing deviation, which is caused by a small head, which is too prominent in the visual comparison, becomes obvious.
Based on the results of the pathomorphological study, it was found that the brain in microcephaly, in addition to its accompanying decrease, has an underdevelopment of the cerebral hemispheres, especially in the area of the frontal regions. Also, microcephaly can be accompanied by manifestations in the form of macro or microhygiia (which in turn determines abnormally wide or, conversely, narrow dimensions for the convolutions), as well as manifestations in the form of porencephaly (formation of cystic cavities in the brain tissues), agiria or lissencephaly Absence of gyruses or their flatness).
Initially, we noted that microcephaly is accompanied by a delay in mental development, although this is not an unambiguous statement. In microcephaly in children, there may be a delay in the part of motor and speech, motor skills in particular can be caused by spasmodic or paralysis of the muscles. Concerning the noted ambiguity of the statement on the part of mental retardation, it is possible to determine some exceptions regarding the learning ability of sick children. In this regard, a somewhat more favorable and not so limited picture of the disease is admitted, in which the possibilities of children with microcephaly are broader (a bit more about this part below).
Causes of microcephaly
In accordance with the time of development (by analogy with the already noted congenital or acquired variant of this disease, noted above), the primary microcephaly and secondary microcephaly are designated.
Primary microcephaly, also referred to as true or hereditary microcephaly, thus appears to be a component due to hereditary diseases that develop according to the recessive or autosomal recessive type of inheritance and are sex-related in accordance with this. True microcephaly is diagnosed on average in 7-35% of cases of development of this pathology.
Next — secondary microcephaly, it, in turn, can be embryopathic and syndromic. Secondary microcephaly is caused by chromosomal aberrations (a type of mutations against which a structural change in chromosomes develops), hereditary enzymopathies (genetically conditioned hereditary diseases accompanied by a disturbance of metabolic processes), as well as pathologies of pregnancy and labor. This form of microcephaly develops on average with 125 kinds of chromosomal abnormalities. Most often, syndromic microcephaly is diagnosed in Down’s syndrome, cat-scream syndrome, Edwards syndrome, Patau syndrome, etc.
Development of the secondary form of embryopathic microcephaly is accompanied by a previous effect on the fetus of various types of factors. So, among them it is possible to allocate intoxication against the background of professional, narcotic, alcoholic and other exposure options. Also, intrauterine infection (toxoplasmosis, cytomegalovirus, rubella, herpes, etc.), intracranial birth trauma, the presence of hormonal diseases in the mother of a sick child (such as thyrotoxicosis, diabetes, etc.) can determine the development of the disease.
Secondary microcephaly of the brain in frequent cases is manifested in combination with the formation of foci of hemorrhages, cystic foci or calcification foci. Microcephaly in children is often supplemented with other anomalies, for example, the formation of characteristic clefts in the palate and lips (this corresponds to pathologies such as «wolf mouth» or «hare lip»), the development of congenital cataracts, kidney hypoplasia, congenital heart and lung defects, The primary form of cardiomyopathy, etc. In accordance with the nature of the manifestation of these syndromes and the general picture that characterizes the condition of patients, it can be indicated that when additional pathologies are attached to the microcephaly, the severity of the prog The nose is greatly aggravated.
Microcephaly is accompanied by characteristic external manifestations, conditioned, as it is understandable, by the changes to which the skull is exposed, and with it — the brain. Already at birth, skull volumes in newborns with microcephaly are markedly reduced, their subsequent general development is accompanied by a backwardness in terms of volume indicators when compared with indicators of normal development. The face part of the skull in the volumes is markedly predominant over the cerebral part.
Note, again, that outwardly patients with microcephaly have a slanting and narrow forehead, large ears and brow ridges, located in a slightly protruding position. Closure of fontanelles and cranial sutures occurs during the first months of life, it also happens that at the time of birth they are already closed. The subsequent development of a sick child is accompanied by a backwardness in growth and weight, and such changes can cause dwarfism. The constitution becomes disproportionate, the palate is tall and narrow, teeth are large, rare.
With microcephaly, muscle disorders are also relevant. In particular, muscular dystonia can be noted — a condition accompanied by a violation of the muscle tone before it falls or, conversely, until it rises one or at the same time on both sides of the body. There may also be spastic paresis (neurological syndrome, manifested as a weakening of voluntary movements against the background of concomitant brain injury), impaired coordination of movements (ataxia), strabismus and convulsions.
Often, cerebral palsy (cerebral palsy) and epilepsy are noted among the accompanying microcephaly of diseases. In general, as the reader has already been able to understand from the above, in children with microcephaly development occurs with a visible delay. In particular, they begin to sit rather late, crawl and walk, hold the head. Speech development also occurs with a delay, articulation is unclear, vocabulary is limited. The understanding of speech addressed to patients is also violated.
The development of intellectual disturbances can be different, mostly variations ranging from the manifestation of debility to the manifestation of idiocy. If mental retardation manifests itself in a not very pronounced form, then it is possible to teach children, instilling in them skills in self-service (with subsequent self-implementation). In addition, in such cases, children can perform simple tasks. Meanwhile, in spite of the fact that a variant of this «facilitated» manifestation of mental retardation is allowed, it is much more often necessary for children with microcephaly to have constant monitoring, care and care because of the rarity of such a scenario and, accordingly, the aggravated form of manifestation of the disease.
There are some peculiarities about the temperament of patients with microcephaly, in particular, on the basis of them, children can be introduced to the torpid group or to the erectile group. Torpid temperament type causes lethargy and lack of mobility, indifference to what is happening around, the activity of such children can be defined as passive-imitative in the form of its manifestation.
With regard to familiarizing with this type of temperament as an erection, then with this regard, children, on the contrary, are characterized by their own hyperactivity, instability of attention, mobility and fussiness. With regard to the characteristics inherent in the emotional sphere, you can indicate their safety. That is, basically the majority of sick children are good-natured and affable, the susceptibility to affective outbursts, emotional instability is noted less often.
The diagnosis of microcephaly in newborns is not particularly complicated, it is based on the visual definition of parameters indicating a decrease in the size of the head, as well as in revealing signs that indicate an underdevelopment of the intellect.
During pregnancy, diagnosis is also carried out for concomitant pathologies of development, including the relevance of microcephaly. In particular, the biometric parameters inherent in the fetus are compared, their detection occurs within the framework of ultrasonic dynamic observation. Obstetrical ultrasound, acting as such a method, is characterized, at the same time, by a lack of sensitivity in terms of diagnosis (about 68%), so that the detection of the developmental fetus of the fetus is quite late — by the 27-30th week of gestation. Given such a feature, the presence of suspicions of the possible development of microcephaly against a background of genetic or chromosomal pathology requires mandatory supplementation of ultrasound screening with invasive diagnostic methods. As such methods, a chorionic biopsy, cordocentesis, or an aminocentesis is considered. In addition, karyotyping of the fetus may be considered an adjunct to diagnostic procedures.
The degree of microcephaly is determined based on the implementation of a set of diagnostic methods, in particular EchoEG, neurosonography, CT and MRI of the brain region, EEG. Based on the results of this diagnostic method, such as radiography of the skull, microcephaly is differentiated from a pathology such as craniosynostosis.
Treatment of microcephaly as a targeted effect specifically on this disease is not present as such. Any measures of influence with it are reduced to relief of symptoms, respectively, treatment of microcephaly is only symptomatic. For example, it is necessary to regularly take courses of drug therapy, due to which there is a positive effect on metabolic processes within the impact on brain tissue. Based on the relevant indications, therapy with sedative and anticonvulsant drugs can be indicated.
Additional activities carried out with children with microcephaly are the effects of occupational therapy, massage and physical therapy. Thus, the main measures, besides symptomatic treatment, are to ensure the maximum possible socialization and adaptation of patients.
In addition, dispensary supervision is provided by the relevant specialists.
The prognosis for microcephaly regarding the ability to socialize, as well as the life expectancy of patients, is quite variable. Some patients, as already indicated, are trained, can implement certain minimum necessary self-service skills. In most cases, the prognosis can be defined as unfavorable, which is complemented by a reduced life expectancy of such patients, and also because most of them due to a number of circumstances have to stay for life in conditions of specialized boarding schools.
With regard to such an issue as the prevention of microcephaly, it primarily consists of an appropriate approach to pregnancy planning, as well as in the conduct of a survey for infections. Under the condition of early detection of microcephaly, the option of artificial termination of pregnancy is considered on the basis of indications. In principle, it is impossible to prevent this disease. In the case of the birth in the family of a child with this type of anomaly, it is recommended to undergo a medical genetic examination to assess the possible risk of the birth of the next child with the same anomaly.
Symptoms of microcephaly require treatment to the treating pediatrician and to the neurologist. According to the peculiarities of the upbringing of children with this diagnosis, they turn to the defectologist, and they turn to the speech therapist to correct the underdevelopment of speech.