Definition

Microcephaly is a genetic disorder where a baby's head size is smaller compared to other babies of the same age. Besides having a small head, the brain size is also smaller and does not develop properly. Microcephaly can occur alongside other congenital abnormalities. Monitoring the development through head circumference and the size of the anterior fontanelle is important as it reflects brain growth. According to the American Academy of Pediatrics, head circumference monitoring should be done until the age of 2 years. Besides measuring head circumference, regular monitoring of the size of the anterior fontanelle in infants is also performed. The head circumference of a baby from birth to two years old ranges from 35 to 49 cm. The occurrence of microcephaly is rare, with an incidence rate in the United States of about 1 in 800 to 5000 live births.

Causes

Most causes of microcephaly are not exactly known. However, several factors may contribute to microcephaly, including:

1. Infections during pregnancy, such as rubella, toxoplasmosis, Campylobacter pylori, herpes, syphilis, or cytomegalovirus.
2. Severe malnutrition or poor nutrition in the baby.
3. Exposure to harmful substances during pregnancy, such as alcohol, certain drugs, and chemicals like mercury, arsenic, radiation, and components of tobacco smoke.
4. Blood flow disturbances in the baby while in the womb, which can be caused by trauma before or during pregnancy.
5. Genetic disorders like Down syndrome or parents carrying the genetic trait for microcephaly. Parents with a child with microcephaly have a one in four chance of having another child with the condition.
6. Craniosynostosis, where the skull bones fuse prematurely, inhibiting brain growth.

Another infectious cause that can lead to microcephaly is Zika virus infection that affects the mother during pregnancy.

Risk Factor

Risk factors for a baby developing microcephaly include having relatives with the condition. Other maternal factors during pregnancy that can increase the risk include:

1. Exposure to hazardous chemicals
2. Methylmercury poisoning
3. Inadequate intake of vitamins and minerals during pregnancy
4. Infections such as cytomegalovirus, rubella, varicella, Zika virus, or toxoplasmosis
5. Certain medications
6. Drug use and alcohol consumption during pregnancy
7. Stroke during pregnancy

Symptoms

One clear symptom of microcephaly in infants is a head size significantly smaller than that of peers of the same age and sex. Other characteristics can include a sloping forehead. Infants with microcephaly may also experience:

• Recurrent seizures
• Developmental delays in sitting, speaking, or walking
• Reduced ability to learn and perform daily activities
• Difficulty swallowing or feeding
• High-pitched crying
• Vision and hearing impairments
• Stiffness in arms and legs
• Shorter stature compared to age standards

These symptoms are often permanent and may be life-threatening, requiring continuous medical supervision.

Diagnosis

Microcephaly can be diagnosed during pregnancy and after birth. Prenatal diagnosis uses ultrasonography (USG) in the late second or early third trimester. After birth, head circumference can be measured with a tape measure within the first 24 hours. The measurements are compared to standard growth charts. Other diagnostic tools include CT scans, MRIs, and laboratory tests for blood and urine to determine the underlying cause. Growth charts are used to monitor the baby's growth rate and development.

Management

There is no specific treatment for microcephaly, and it is a lifelong condition. Treatment depends on the severity of the condition. Regular and close monitoring by healthcare professionals, including general practitioners, pediatricians, and rehabilitation teams, is essential. For example, treatment for recurrent seizures or malnutrition can be tailored to the child's needs.

For infants with craniosynostosis, surgery may be performed to separate fused skull bones and correct skull shape. Early intervention is crucial for children with microcephaly.

Rehabilitation can help address difficulties as the child grows. Children's therapy programs include speech therapy, physical therapy, and occupational therapy, all of which may help children with daily activities.

The continuity of the child's treatment depends on the support of the family and the community, particularly those who are going through the same thing. A child's microcephaly may cause the family to feel upset, guilty, and anxious. It is important that you get accurate information and look for support when completing any further therapy. Talking to others who are going through similar things and hearing their stories can help the child's therapy progress. When it comes to managing children with microcephaly, family support and counseling are crucial.

Complications

Complications from microcephaly are linked to impaired brain development, including:

• Difficulties in speaking and socializing
• Learning and memory issues
• Growth and developmental delays
• Vision problems
• Facial abnormalities
• Recurrent seizures
• Hyperactivity
• Coordination difficulties

The severity of microcephaly has a significant impact on the complications that arise. Some individuals may have normal cognitive function despite having a small head size.

Prevention

Families with a history of microcephaly can undergo genetic counseling to identify genetic risks early. Additionally, blood tests and TORCH infection screenings before pregnancy can be performed.

When to See a Doctor?

Routine head circumference measurements are conducted by healthcare providers at birth. Check your baby and schedule regular checkups with your doctor or the nearest medical facility. If you notice your baby's head is smaller than peers, seek medical advice for further examination.

For children with microcephaly, see a doctor if new symptoms arise or existing symptoms do not improve with treatment or therapy.

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