What is Microcephaly?

Microcephaly is a rare condition in which a baby’s head is significantly smaller than normal. Typically, this occurs when the brain does not develop fully during pregnancy, though sometimes the condition develops in the first few years of life. While it is often an isolated condition, meaning it does not occur with other major congenital disabilities, co-occurrence is possible.

A child has a higher risk of developing microcephaly if he or she has a parent or sibling with the condition or a faulty gene. The risk also increases if the mother experiences problems during her pregnancy such as insufficient vitamin and nutrient consumption, infections such as rubella, varicella, or Toxoplasma, drug and alcohol use, methylmercury poisoning, or exposure to toxic chemicals.

This condition results from abnormal brain development either in the womb or during infancy. Other causes include genetics, chromosomal abnormalities, decreased oxygen, exposure to toxic chemicals, alcohol, or drugs, severe malnutrition, certain viral infections, or premature fusing of the infant’s skull. A mother's uncontrolled phenylketonuria—a condition that affects the body’s ability to break down the amino acid phenylalanine—can also cause microcephaly. An autosomal recessive disorder, it occurs when an individual has two copies of the faulty gene—one from each parent.

A small head is the main sign of microcephaly. In general, doctors compare a child's head measurement with average percentiles. In some children, the condition can cause other symptoms such as a high-pitched cry, developmental delays, seizures, trouble feeding, and intellectual disabilities. Disturbances in motor function later in life are also possible.

Despite having smaller heads, many children with microcephaly live normal lives. As this condition can prevent full development of the brain, however, it can lead to complications such as speech delays, short stature, hyperactivity, limited problem-solving skills, hearing problems, facial distortions, difficulties with balance and coordination, and more.

Diagnosis often begins with a thorough family, birth, and prenatal history. Often, the doctor will also do a physical exam. More specifically, they will measure the circumference of the child's head and compare it with a standardized growth chart. More often than not, they will continue to monitor the size at future visits. If a child experiences developmental delays, the doctor may conduct an MRI or a head CT scan; this will allow them to determine the underlying cause.

Unfortunately, no treatment will increase the head size of an infant with microcephaly and therefore no cure. Instead, treatment focuses on managing symptoms. For instance, early childhood intervention programs such as occupational, physical, and speech therapy can help improve strength and language skills and build confidence. Psychological counseling can also improve self-esteem. Physical side effects of the condition may require surgery.

Finding out that a child has microcephaly can cause parents to experience anger, fear, and guilt. As caregivers will need to make important decisions about the infant's treatment and education, it is essential to work with a team of trusted professionals. It might also help to seek out others who are dealing with the same situation, such as online support groups for parents of children with developmental disorders.

Children with microcephaly require regular follow-ups with their healthcare team. In addition to tracking the growth of the head, doctors will monitor their language, intellectual, motor, and social capabilities over time. In some cases, age will reveal new issues as children grow and develop. As a parent, it is important to strengthen the child's self-esteem. While some may require occupational and physical rehabilitation, encouragement can help them become as independent as possible.

Pregnant women can take various steps to reduce their likelihood of their child developing microcephaly. Taking prenatal vitamins, eating a healthy diet, abstaining from drugs and alcohol, and ensuring general hygiene to avoid infections can all help. Expectant mothers should also stay away from chemicals such as pesticides and herbicides. Doctors may recommend genetic counseling to parents who already have one child with the condition and are planning for another baby.