Microcephaly: Symptoms, Diagnosis, Risk Factors and Treatment

What is Microcephaly?

Microcephaly is a rare medical condition. It is a neurological disorder in which an infant’s head’s circumference is significantly smaller compared to the heads of other children at the same age.

This condition generally occurs when the brain starts developing abnormally or stops growing. 

Microcephaly may be detected at the time of birth or may develop in the initial years. Your child’s head will grow with age but remain smaller than what’s considered normal.

In this condition, the child’s brain stops developing as it should. This may occur while the baby is still in the mother’s womb or within the first few initial years.

Is a small head size always Microcephaly?

Generally, a significantly small head size in infants is always microcephaly. It is not a common condition. According to a recent study in India, on average, 2.3 in every 10,000 babies are born with this condition.

It can be an isolated condition. This condition can occur with no other major birth defects or in combination with other significant congenital disabilities.

What are the signs and symptoms of Microcephaly?

• The primary sign of this condition is the significantly smaller head size of the children. This is the measurement of the distance around the child’s head, also called circumference.
• This measurement is then compared with other children’s measurements in terms of percentile. This is done using standardized growth charts.
• Some children’s measurements may fall as low as the first percentile. Possibly even below the first percentile of your baby’s sex and age. This is significantly below average.
• In some severe cases of microcephaly, a child may have a backwards-sloping forehead.
• Other symptoms include difficulties in coordination or balance other brain or neurological abnormalities.

How is it diagnosed in a child?

It may be diagnosed before birth through prenatal ultrasound. This is a test that uses sound waves that are high in frequency. Computers create pictures of various blood vessels, tissues, and internal organs. In many cases, the condition may not be seen through ultrasound until the third trimester.

In the case of an after-birth diagnosis, the doctor will ask about your pregnancy history, health history of the child, and family, including you. The child may have the following tests:

• CT scan using a series of X-rays and computer-created images of the internal body. A CT scan provides more details than a regular X-ray.
• MRI uses large magnets, radio waves, and the computer created images of the internal body.
• Blood tests, including genetic tests. These tests are to evaluate the conditions running in families.
• Urine tests to look for any detail for the condition in the sample.

When to see a doctor

Your doctor will detect this condition in fetal ultrasounds at regular well-baby checkups. Often, it is diagnosed at the baby’s birth. However, if you feel your baby’s head is significantly smaller than other babies or it is not growing normally as it should, consult your doctor.

Even after detection and diagnosis, you should frequently visit the doctor or concerned pediatrician for your child’s growth and development.

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What are the causes of Microcephaly?

•  It is generally caused by genetic abnormalities that interfere with a brain’s development during the early months of fetal development
• Craniosynostosis, which means fused bones in an infant’s skull, can also be a cause. If there are no other underlying problems in the brain, the surgery to separate the bones can result in adequate space for the brain to grow and develop
• Complications of pregnancy or delivery can decrease oxygen levels for the fetal brain
• There may be several infections passed to the fetus at the time of pregnancy

What are the associated risk factors of Microcephaly?

• Interruption in blood supply to the baby’s brain during growth and development
• Malnutrition or not getting proper nutrition at the time of pregnancy may affect your baby’s growth and development
• Any exposure to drugs, alcohol, or other toxic chemicals in the womb may put your baby at risk of brain abnormalities

Treatment for microcephaly

• No treatment can provide a normal size or shape to a child’s head. The available treatment focuses on methods to lower the impact of deformities and neurological disabilities
• Infants with this medical condition and developmental issues are generally evaluated by a pediatric neurologist along with a medical management team. There are early childhood intervention programs. They involve physical, speech, and occupational therapists who help in maximizing abilities and reducing dysfunction
• Medications are often used to control neuromuscular symptoms. Genetic counseling may help you understand the risk of this condition in subsequent pregnancies

Complications

Many children with this type of condition have normal development and intelligence. Their heads will always remain significantly small for their age and sex. In accordance with the cause and severity of the condition, complications may include:

• Developmental delays in speech or movement
• Coordination or balance difficulties
• It may include dwarfism or short stature
• It may also lead to facial distortions
• Hyperactivity or the condition of being constantly, abnormally active
• Intellectual disabilities
• Seizures or changes in behavior occur after abnormal activities in the brain

What is the prognosis of the condition?

Some children will have minimal or mild disabilities. Others, who are growing and developing normally, will have proper intellectual skills. They will continue to develop and achieve regular milestones as per their age.

Prevention of microcephaly

• Learning about a child’s microcephaly condition can raise questions about future or subsequent pregnancies 
• Consult a doctor to understand more about the cause of this condition
• If the cause is genetic, you can further consult a genetics counsellor regarding the risk of this condition in subsequent pregnancies and learn what precautions you may take to minimize that risk

Research in this area

The National Institute of Neurological Disorders and Stroke (NINDS) conducts research on microcephaly in its labs at the National Institutes of Health (NIH). It also supports research through grants to major medical institutions. Studies are done on a rare neuro-metabolic syndrome by a group of researchers. They have successfully used amino acid replacement therapy to lower and prevent seizures.

Summing it up

Microcephaly is a rare neurological condition that hampers the growth of a child’s head. It may be detected in the later stages of pregnancy itself. You can consult a doctor when you see any signs or symptoms of this condition in a child. It may be detected at a child’s birth too.

Many causes may lead to microcephaly. Some of them are genetic abnormalities, craniosynostosis, decreased normal oxygen level in human body for the fetal brain, drugs, alcohol, exposure to other toxic chemicals, malnutrition during pregnancy, and several infections.

There is no proper treatment, but dysfunction and neurological disabilities may be minimized, and speech and physical abilities can be improved with pediatric neurologists and therapists.

Frequently Asked Questions (FAQs)

Any treatment if it is detected at earlier stages?

The head cannot return to normal size and shape, but treatment reduces the dysfunctions and disabilities and improves movement, speech, and other neurological abilities.

Do all children with this condition have long term effects?

Children with mild forms of this condition may grow normally during childhood as well as adolescence.

Can it be prevented?

You can take preventive measures like maintaining proper hygiene, a healthy diet, consuming essential vitamins, and staying away from drugs, alcohol, and chemicals. You should also get treated for any illness as and when you feel it.