MCPH stands for microcephaly. Microcephaly is one of the rarer malformations in humans. It is either genetic or acquired and shows itself primarily in a skull that is too small. Children born with microcephaly often also have smaller brains and other physical and mental developmental disabilities. However, there are also cases of microcephaly in which the young patients develop normally cognitively despite their smaller brain size.
What is microcephaly?
Microcephaly ( MCPH ) is a malformation of the human skull: it is too small in relation to that of other people of the same sex and age. Microcephaly is usually not so noticeable at birth. The developmental disorder becomes clearly visible later when the head circumference does not “grow” with it. It can then be more than 30 percent lower than in other people of the same age. See AbbreviationFinder for abbreviations related to MCPH.
Microcephaly is most often associated with cognitive disability and other limitations. As a rule, children also have brains that are too small for their age. Intellectual deficit is mild to moderate. Microcephaly occurs at a ratio of 1.6:1000. Primary microcephaly is usually inherited in an autosomal recessive manner. The secondary form arises, for example, from infections and brain injuries to which the embryo is exposed in the womb.
Microcephaly can have many causes. The main cause is dyscephaly: the child’s brain grows too slowly in the womb due to insufficient pressure. As a result, the skull cannot expand to the normal extent. As Australian scientists discovered in 2012, a gene called TUBB5 is responsible for impaired brain growth. TUBB5 produces a protein called tubulin, which is important for cell construction.
When TUBB5 mutates, the embryo’s brain continues to grow much more slowly. If there is craniostenosis, the cranial sutures close prematurely so that the brain can no longer grow. If the craniostenosis is detected in time, they can be surgically separated. Other causes are gene mutations: MICPCH syndrome (a form of microcephaly) occurs when the CASK gene located on the X chromosomes mutates. Infections of the expectant mother with rubella, cytomegalovirus, chickenpox or toxoplasmosis can also lead to microcephaly.
In addition, alcohol or drug abuse by the pregnant woman can have such an unfavorable effect on the child. The same applies if she is exposed to radiation ( cancer treatment ). Untreated phenylketonuria (PKU) and cerebral anoxia (the brain does not receive enough oxygen) can also cause the developmental disorder in the unborn child.
Symptoms, Ailments & Signs
The most obvious sign of microcephaly is a head circumference that is too small in relation to children of the same age. Bridge and cerebellum are lagging behind in their development. In addition, cognitive and motor retardation can be observed. Language development is delayed. As a result of swallowing disorders, they have difficulty in eating and are therefore often up to 30 percent underweight and also too small.
Some of them have balance problems. Many microcephalic children are hyperactive and exhibit involuntary movements (hyperkinesia). About ten percent of them suffer from epileptic seizures. Because of their lower immune system, they have an increased tendency to infectious diseases, which can have a negative impact on their life expectancy. A curved back is characteristic of microcephalic patients with hypotonia (insufficient muscle tension). They also have a four-finger crease on their palm, a sandal gap, and twin teeth.
Diagnosis & disease progression
Prenatal ultrasound can only be used to determine whether a fetus has microcephaly from the 32nd week of pregnancy. In most cases, however, the developmental disorder is not recognized until much later. The specialist measures your head circumference and compares it using head circumference tables. X- rays, CT scans and MRTs can also be performed.
The CT scan is preferable to the X-ray because of its greater accuracy. An MRI image clearly shows the features caused by the CASK gene mutation: A slightly smaller brain that looks essentially normal, differing only in a somewhat simplified brain convolution pattern. However, the parents only have final certainty after a blood and urine test.
In those affected, microcephaly primarily leads to a restriction of mental and motor development. Children in particular experience severe symptoms, so that when they get older they are usually dependent on the help of other people. Furthermore, speech impediments and swallowing difficulties also occur, so that those affected cannot eat on their own.
Balance disorders or epileptic seizures also occur. It is not uncommon for those affected to also suffer from reduced muscle tension and various deformities in the body. Parents or relatives can also suffer psychologically or be affected by depression as a result of the illness. The affected children are often hyperactive and therefore cannot follow the lessons.
As a rule, therefore, they require special instruction. With the help of various therapies, the symptoms of microcephaly can be reduced. However, a complete cure of this disease is not possible, so that the patients are usually dependent on the help of other people throughout their lives. Cramps can be limited with the help of medication. Particular complications do not arise in the treatment of this disease.
When should you go to the doctor?
Microcephaly is usually not recognized immediately. The affected children initially appear healthy. Within the first months of life, however, it becomes very clear that the head circumference is smaller than that of their peers. If the treating pediatrician does not make the diagnosis himself as part of routine examinations, parents should definitely consult a doctor if they suspect microcephaly. The disease should be treated as early as possible.
The sooner the affected child receives suitable therapy, the better the chances of a longer life expectancy. It is important to start with physiotherapy, ergotherapy and speech therapy as early as possible, since the child can achieve a certain level of independence through intensive support and the parents can thus be relieved. In the case of repeated seizures in particular, the pediatrician or a specialist should be consulted. In such cases, prompt medical treatment is required.
Treatment & Therapy
There is no complete cure for people with microcephaly. However, with the help of suitable therapies, parents can increase the life expectancy of their child and give them more zest for life. The sooner the child receives the appropriate treatment, the better his chances later. Although the head circumference can no longer be corrected, parents can ensure that their child regularly attends physical therapy, as well as occupational and speech therapy.
It is also important to encourage the independence of the disabled child and to strengthen his or her self-confidence. Regular checks of head circumference and general growth help to be able to intervene more quickly in the event of difficulties. Symptoms such as hyperactivity and seizures are easily managed with medication.
Outlook & Forecast
Basic information on the outcome of microcephaly is difficult. In any case, those affected must be prepared for lifelong restrictions. How strong these are varies from case to case. In practice, it often proves difficult that the disease has not been researched enough so far. This means that important knowledge is missing, which is crucial for therapy. Since, statistically speaking, only 1.6 out of 1,000 children develop microcephaly and these are mainly in Africa, only a slow improvement in treatment options can be expected.
The skull malformation is diagnosed in young children. The extent to which physical development can contribute to an improvement cannot be predicted. In any case, doctors cannot correct the reduced head circumference. Nevertheless, parents should not do without the help offered. Non-treatment is the worst option. Because at least the consequences and side effects can be treated. Physiotherapy and speech therapy can help to improve the situation. Many patients suffer from a mental or physical disability. As a result, they are dependent on aids for the rest of their lives. Overall life expectancy does not have to be reduced due to microcephaly.
Parents who have a microcephaly child and want more children should definitely try to find out what causes the microcephaly. If it is genetic, the only solution is to go to a specialist who can tell you how likely it is that future offspring will also get the developmental disorder. With autosomal recessive inheritance, there is a 25 percent chance that the child will also have a reduced skull.
Because microcephaly generally cannot be completely cured, follow-up care focuses on managing the condition well. Those affected should try to build up a positive attitude to life despite the adversities. Relaxation exercises and meditation can help.
Those affected can only speak with a great deal of delay, so that there are also disturbances and a significant delay in the child development of the affected person. Those affected usually also suffer from significant retardation and also from balance disorders, so that there are restrictions and disturbances in everyday life. Likewise, various malformations or malformations can occur on the affected person’s body and thus also significantly reduce the aesthetics. In addition to the therapeutic measures, it is helpful to sensitize the social environment to the disease in order to prevent misunderstandings.
Since the symptoms of microcephaly are sometimes severe, this can also lead to depression or other strong psychological upsets in the parents or relatives. It is advisable to clarify this with an experienced psychologist and to weigh up the extent to which therapy is appropriate. Contact with people who are equally ill can also contribute to improving the quality of life.
You can do that yourself
Microcephaly presents in childhood and is often, although not always, associated with cognitive impairment. Parents who suspect their child may have microcephaly should consult an expert immediately. If the suspicion is confirmed, a thorough clarification of the causes is urgently required in addition to the diagnosis. The latter is particularly important with regard to family planning. Microcephaly can be genetic. If this is the case, those affected whose family planning has not yet been completed should seek genetic counseling.
Which support measures are indicated for the patients themselves depends on the degree of disability. A learning disability can not be fully compensated for by early educational and psychotherapeutic care, but it can almost always be alleviated. Ergotherapeutic and physiotherapeutic measures can help to counteract the consequences of delayed or disturbed motor development. In the case of speech disorders, a speech therapist should be consulted at an early stage.
This can be very stressful for parents. You should therefore seek professional support in caring for your child. It is important to apply for a care level early on. Since children suffering from microcephaly often cannot attend a normal primary school and places at special schools are scarce, parents should also start school much earlier than with a healthy child.