Generality
Microcephaly consists of a reduced development of the skull.
Its presence may be the result of a congenital or post-natal morbid condition, or of an event that affected the patient's mother during the period of pregnancy.
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Congenital morbid conditions include, for example, Down syndrome, trisomy 13 and trisomy 18; on the other hand, mitochondrial diseases are included among the post-natal diseases.
Regarding the events affecting the mother during pregnancy, the following are worthy of mention: toxoplasmosis, the use of teratogenic drugs and alcohol abuse.
Typically, people with microcephaly have mental retardation, as they have a brain that has not completed development.
The diagnosis of microcephaly is quite simple, as it is established with the simple measurement of the head circumference.
Unfortunately, with very few exceptions, microcephaly is an incurable condition.
What is microcephaly?
Microcephaly is the medical term for reduced skull development.
Thus, microcephalic individuals are subjected to a head that is smaller - in terms of circumference - than normal standards for a certain age group and a certain sex.
Generally, microcephaly is a characteristic clinical sign of some morbid conditions that, among the various consequences, also affect the normal development of the brain. Some of these morbid conditions (or circumstances) act in the prenatal age - in this case the doctors speak of congenital microcephaly - while others act in the first months of life - in these situations, doctors use the term postnatal microcephaly.
IT IS A SIGN THAT CAN BE FOUND VERY EARLY
Being congenital in nature or developing in the first months of life, microcephaly is a clinical sign that doctors can find very early: before birth, soon after delivery or during very early childhood.
ORIGIN OF THE NAME
The word microcephaly derives from the "union of two terms of Greek origin:" micros "(μικρός), which means" small / small ", and" chefale "(κεφαλή), which means" head ".
Causes
The causes of microcephaly are numerous and of a very different nature.
Among these, they deserve a particular mention:
- Chromosomal anomalies.
They are congenital diseases, which arise as a result of chromosomes altered in structure or number (NB: in this regard, remember that the human being has 46 human chromosomes). The characteristic congenital diseases associated with microcephaly are: Down syndrome ( trisomy 21), Patau syndrome (trisomy 13), Edward syndrome (trisomy 18) and Poland syndrome.
Classification: congenital microcephaly. - Syndromes that induce craniosynostosis.
Craniosynostosis is the term by which doctors refer to the premature fusion of one or more cranial sutures. Cranial sutures are the fibrous joints that join the bones of the cranial vault together (i.e. the frontal, temporal, parietal and occipital bones).
Under normal conditions, the fusion of the cranial sutures occurs in the post-natal period (N.B: some processes end even at the age of 20), which allows the brain to develop adequately.
If, as in the case of craniosynostosis, fusion of the cranial sutures occurs prematurely, then the brain does not have sufficient space to grow properly.
Classification: congenital microcephaly. - The wrong behaviors of the mother during pregnancy.
The fetus can develop microcephaly, if the mother, in the period of pregnancy, uses drugs with teratogenic side effects or alcohol; or if you expose yourself to certain toxic substances.
Classification: congenital microcephaly. - Some particular maternal conditions, which also have repercussions on the fetus.
These include: toxoplasma (toxoplasmosis), cytomegalovirus, rubivirus (rubella) and varicella-zoster (varicella) infections; failure to treat phenylketonuria (a genetic disease that causes phenylalanine to build up in the body); a state of severe malnutrition; and, finally, the presence of persistent hypothyroidism.
Classification: congenital microcephaly. - Some mitochondrial diseases.
Mitochondrial diseases represent a group of pathologies caused by a dysfunction of the mitochondria; mitochondria are the cellular organelles that produce most of the immediately expendable energy of the organism (ATP).
Classification: post-natal microcephaly. - Brain trauma and stroke events (both hemorrhagic and ischemic).
They are acquired causes.
Classification: post-natal microcephaly. - Hypoxic ischemic encephalopathy.
Encephalopathies represent a particular group of pathologies, characterized by a "structural and functional alteration of the brain.
Hypoxic ischemic encephalopathy is a permanent pathological condition, which arises as a result of an inadequate supply of oxygen to the cells of the brain (we speak of cerebral hypoxia, when the influx is partial, and cerebral anoxia, when the influx is totally absent).
Deprivation of oxygen, destined for the cerebral compartment, can occur at various moments in life; it can cause microcephaly, if it occurs: before birth (ie during pregnancy), at the time of labor / delivery or after labor.
Classification: congenital and postnatal microcephaly.
Symptoms and Complications
Schlitzie, pseudonym of Simon Metz (1901-197) American showman and actor suffering from microcephaly.
Most doctors talk about microcephaly when, by comparing a head with the average measurements for a certain age and gender, the head circumference turns out to be at least two standard deviations smaller.
Symptoms and signs accompanying microcephaly depend on what and how serious the triggers for microcephaly are. In particular, the symptomatology is all the more severe, the higher the degree of severity of the condition that leads to the reduction in the size of the head.
The following can be included in the symptom picture of an individual with microcephaly:
- Mental delay. In general, mental retardation is the most common pathological manifestation in individuals with microcephaly.
It has various consequences, including: socialization problems, lack of integration into the social context, reduced ability to adapt, etc. - Delay in the development of speech and movement skills
- Dwarfism or short stature
- Hyperactivity
- Distortions of the face
- Epilepsy
- Difficulty with coordination and balance
- Neurological anomalies of another kind
ARE THERE INDIVIDUALS WITH NORMAL INTELLIGENCE?
The presence of microcephaly does not always coincide with mental retardation. It is possible, in fact, to deal with microcephalic individuals with "normal intelligence."
WHEN TO SEE THE DOCTOR?
If a parent suspects the presence of microcephaly, it is good that he immediately contact his pediatrician for an in-depth study of the situation (N.B: remember that, in general, microcephaly is a disorder that can be found very early).
However, it should be remembered that, usually, at birth or at the first pediatric visits, doctors will notice quite easily if a subject has a smaller head than normal standards.
Diagnosis
For obvious reasons, microcephaly can only be diagnosed in the prenatal age if it is of the congenital type.
In such situations, a simple prenatal ultrasound scan may suffice for its identification.
For the purpose of a complete diagnosis, which also includes the identification of the triggering causes, the information that can derive from: an evaluation of family history, a brain CT scan, a nuclear magnetic resonance (MRI) and blood tests are very important.
Importance of family history assessment
The presence, in a family, of other individuals with microcephaly could be indicative of a hereditary problem, which occurs among the relatives of one of the parents.
Thanks to the evaluation of family history, doctors can clarify this aspect, facilitating the diagnostic process.
Treatment
Except for some cases sustained by craniosynostosis, microcephaly is an incurable condition. In fact, currently, there are no treatments that allow the skull to complete its normal development.
Having said that, doctors can still plan symptomatic therapy, that is, aimed at improving the symptomatological picture.
TREATMENT OF SYMPTOMS: EXAMPLES
The symptomatic treatment obviously varies according to the present symptomatology.
For instance:
- If the patient shows mental retardation and the various consequences related to it, it is good to submit him to a special treatment, known as occupational therapy.
Occupational therapy has two main objectives: the first is to facilitate the patient's insertion into the social context (school, family, etc.), as soon as he begins to relate to the world; the second is to make the patient as independent as possible from others, by teaching him to take care of their own person etc. - If the patient demonstrates a delay in the development of language skills, there are specific therapies, which allow the improvement of these skills.
- If the patient suffers from balance or coordination disorders, the doctor plans a series of physiotherapy treatments for him. There are, in fact, some very useful physiotherapy exercises to alleviate the aforementioned problems.
To obtain the best results, experts recommend contacting physiotherapists who are experienced in pathologies with neurological consequences, such as those that cause microcephaly. - If the patient suffers from epilepsy or hyperactivity, he can take drugs specially synthesized to reduce the symptoms of the above conditions.
CARE OF CRANIOSYNOSTOSIS
Some cases of craniosynostosis can be resolved thanks to surgery ad hoc, which consists in the separation of the cranial sutures fusing early.
Surgeons can perform the operation in two different ways: through a classic surgery procedure - also called "open" - or through an endoscopic procedure - which has the advantage of reduced invasiveness.
SOME ADVICES
Doctors recommend that parents of children with microcephaly always turn to professionals who are experienced in this particular physical abnormality and the diseases that can cause it.
In addition, they recommend contacting support groups for families with children with microcephaly, because this can be a way to better understand the aforementioned condition and the symptomatic treatments it requires.
Prognosis
Prognosis depends on the severity of the symptoms. Individuals with severe microcephaly suffer from severe disabilities (severe mental retardation, marked speech problems, etc.) and this greatly affects their quality of life. Conversely, subjects with mild microcephaly suffer from limited disabilities and this allows them to lead a life closer to normal (if, of course, compared to previous cases).
Prevention
Some genetic diseases that cause microcephaly are inherited, that is, passed on from parents to offspring.
In light of this, the parents of microcephalous children can contact a genetic expert and possibly undergo a specific genetic test, to understand if "another possible pregnancy is at risk of microcephaly. If so, avoid conception. prevents the onset of the disease.
