What is Microcephaly?
Microcephaly is a neurodevelopmental disorder where in the person’s head is small for an average person’s gender and age. It is a birth defect of which children are born with a smaller head. Since their head is small, their learning development is also affected. It interferes with the cerebral cortex’s growth.
Microcephaly is a medical definition that literally means “small head”. It has been associated with mental retardation but not all children having small head are known to have mental retardation.
Picture 1 – Comparison of normal head with microcephaly
Image source – Adam inc.
This is a kind of microcephaly. It is sometimes known as a true microcephaly or Microcephaly Vera. It is an inherited disease condition that is due to genetic mutations. There are four mutations that lead to the cause of this disease condition, this genes are: MCPH1, CK5RAP2, ASPM, and CENPJ. Genetic mutations in primary microcephaly debase the development and brain growth because this plays an important role in brain cell division.
When a person has congenital microcephaly, it means that the person has this kind of condition at birth. Studies show that before a person has a diagnosis of congenital microcephaly, it may follow intrauterine infections like toxoplasmosis, rubella, and cytomegalovirus.
The cause of microcephaly may be due to the ingested substances which are considered harmful. These kinds of substances which mothers take during fetal development may lead to their children having a diagnosis of microcephaly. It may also be associated with genetic syndromes.
According to theoretical studies conducted, the following predisposing factor may affect the fetus’ normal head development during the pregnancy state:
- Metylmercury poisoning – It will affect the fetal development especially during the pregnancy state.
- Cytomegalovirus, varicella infection or rubella – These are the infections of the fetus during the pregnancy state.
- Lack of proper nutrients and vitamins in the diet – It may lead to this diagnosis since when you lack nutrition especially during pregnancy will really affect the development of the fetus.
- Exposure to harmful substances or chemicals – It will lead to the risk for abnormalities in the brain
- Untreated phenylketonuria – It is birth defects that compel the ability of the body to breakdown the phenylalanine which is an amino acid.
- Prescription of illegal drugs – It will lead to abnormalities in the brain development.
- Alcohol consumption during pregnancy – This will lead to the risk of abnormalities in the brain.
- Cerebral Anoxia – It means decrease oxygen to the fetal brain will lead to complication of pregnancy and impairment of oxygen delivery to the brain of the fetus.
- Craniosynostosis – It is the premature fusing of the joints which may lead to microcephaly.
- Chromosomal abnormalities – Such abnormalities like down syndromes may lead to microcephaly.
This disorder which is congenital can be diagnosed before birth through the use of prenatal ultrasound. It is a diagnostic imaging technique that uses sound waves that are high frequency. Other confirmatory diagnostic tests that the physician can do are the following:
- Urine Test
- Blood Test
- MRI or Magnetic Resonance Imaging
- CT scan or Computed Tomography Scan
- Head Circumference
Up to this point there is no specific treatment that will resolve the microcephaly condition. The treatment that is discussed in this article will focus on decreasing the impact of the neurological disabilities and associated deformities.
- Therapies such as speech, occupational, and physical therapy aid in minimizing the dysfunction and maximizing their potential abilities.
- Other physicians will give prescribed medications to control hypersensitivity, neuromuscular symptoms and seizures. The treatment is a supportive kind of treatment.
- You can also have genetic counseling to let the families know the risk for microcephaly during the next pregnancies.
- The medical team working in the child diagnosed with microcephaly will be the one who will give the educational information and guide them into the improvement of the child’s well being.
- Microcephaly is a lifelong condition which is non-correctable. There is a positive reinforcement to help in encouraging the child and to boost his or her self-esteem and encourage independence.
Its prognosis varies and will depend on the medical condition of the patients.
- While some children may have minor disability, some will grow and develop normally and will have normal intelligence. It really depends on the patient himself or herself. The prognosis of a person diagnosed with microcephaly is really not known.
- According to reports, most children died within his or her first year. Others will say that the person diagnosed with microcephaly will have a varying prognosis.
- Its prognosis will usually depend on the symptoms that he or she is experiencing. In most case, it was reported that most patients will survive and will meet their developmental milestones normally.
- Yet, some patients diagnosed with this disease condition will be able to experience delay on their developmental milestones and will really need professional help and support.
- The person who usually supports them, aside from their family members, are their therapist. In determining the exact prognosis that a patient has with regards to being diagnosed with such disease condition, is the need for them to undergo evaluation from their trusted and specialized physicians and they must do such as soon as possible.
- As mentioned earlier, the prognosis will depend on the condition of the patient himself or herself. The microcephaly is not really evident after birth, but it is revealed as the person, or the child for that matter, develops and grows.
The general life expectancy of the children diagnosed with microcephaly is reduced. The prognosis and the life expectancy work hand in hand. If for instance, the child has a poor prognosis, the life expectancy for that child is low. Yet some experts will say that the life expectancy with a person diagnosed with microcephaly will usually last for 20 to 35 years old, if they are lucky enough. With the right support mechanisms from family members, loved ones, and physicians, the life expectancy will be high and vice versa.
Here are some pictures of microcephaly (small head).