Microcephaly is a permanent condition that one must live with and has no cure at present. Treatment aims to minimize the symptoms associated with the condition to improve the abilities of the affected child.
What is microcephaly?
Microcephaly is a rare genetic neurodevelopmental disorder seen at birth.
- The child born with microcephaly has a head smaller than expected in comparison to other newborns of the same gender and age.
- With a smaller circumference of the head, the size of the brain is reduced, which leads to various developmental disorders.
- Despite being small, the brain may have a normal structure in some babies.
Occasionally, microcephaly may be associated with other major birth defects, however, it may be present alone.
It is estimated that microcephaly is seen in 2 to 12 babies per 10,000 live births in the United States each year.
Moderate microcephaly
- Babies with moderate microcephaly frequently do not have any difficulties other than their tiny head size.
- These babies may have normal intelligence and normal developmental milestones.
Severe microcephaly
- A newborn with severe microcephaly has a smaller head than predicted and may have more serious health issues than a baby with mild microcephaly.
- Severe microcephaly can occur if a baby’s brain fails to grow normally during pregnancy or if the brain begins to develop normally but is damaged during pregnancy.
Birth defects are medical abnormalities that occur at birth, which alter the form or function of one or more bodily components. They can have an impact on general health and how the body grows and functions.
Two types of microcephaly
- Congenital microcephaly
- Most often, microcephaly is presented at birth that is referred to as congenital microcephaly.
- Congenital microcephaly is also called primary microcephaly where the brain does not grow to the normal size while the fetus is in the womb.
- Acquired microcephaly
- Sometimes the baby may develop microcephaly within the first two years of life; this is referred to as acquired microcephaly.
- Acquired microcephaly is also called secondary microcephaly, where the brain is usually normal in size at birth, but it does not grow beyond that.
6 probable causes of microcephaly
The precise causes of microcephaly are unknown. It is mostly caused by the brain failing to expand at a normal rate. This can occur due to several disorders or if the infant is exposed to dangerous chemicals while still in the womb.
- Genetic factors: Microcephaly is an autosomal recessive condition. Mutations in at least seven distinct genes cause primary microcephaly, which includes:
- Down syndrome or Trisomy 21
- Cri-du-chat syndrome
- Cornelia de Lange syndrome
- Seckel syndrome
- Smith-Lemli-Opitz syndrome
- Rubinstein-Taybi syndrome
- Trisomy 18/ Edward’s syndrome
- Maternal infection: Infections in pregnant women during the first three months of pregnancy can occasionally result in primary microcephaly in the newborn.
- Toxins:
- Others:
- Severe malnutrition to the mother while she is pregnant
- Uncontrolled phenylketonuria (PKU) in the mother
- Birth complications:
- Traumatic brain injury during birth
- Reduced oxygen supply to the infant’s brain at the time of delivery
- Craniosynostosis: This is a birth abnormality in which the joints (also called sutures) in the bones of a baby's skull fuse together even before the brain has finished growing. This can lead to issues with brain development.
- Secondary microcephaly is caused by:
- Metabolic disorders
- Genetic syndromes, such as Rett syndrome
17 complications of microcephaly
Other than having a tiny head and being short, some newborns with microcephaly have no health issues.
However, certain microcephaly newborns may have long-term health issues, such as:
- Mental retardation
- Cerebral palsy
- Delayed motor functions and speech
- Learning disabilities
- Seizures
- High-pitched cry
- Feeding difficulties
- Poor appetite
- Difficulties with balance and coordination
- Involuntary muscle contractions
- Facial alterations
- Dwarfism or short stature
- Hyperactivity (abnormally active)
- Hearing loss
- Poor vision
- Do not reach developmental milestones as expected
- Congenital Zika syndrome: Microcephaly associated with other health and developmental disorders.
The child's face continues to expand while growing older, but the skull does not. As a result, the child has a big face, a receding forehead, and a loose, frequently wrinkled scalp. The remainder of the body is frequently underweight and smaller than average.
How is microcephaly diagnosed?
Microcephaly can be diagnosed using the following methods:
- Ultrasound: The defect microcephaly can be detected in the second and third trimester of pregnancy during a routine prenatal ultrasound examination.
- Medical history: A thorough medical history of the baby and mother is taken after the birth of the child.
- Physical examination: The baby may be subjected to physical examinations by the doctor to determine the diagnosis of microcephaly. The doctor measures the head circumference of the baby to check for normal growth and size.
- Radiological tests: The baby may undergo various radiological tests to determine or know the extent of the condition.
- X-rays
- computed tomography (CT) scan
- Magnetic resonance imaging (MRI) scan
- Blood tests: Blood tests are done to check for genes associated with the condition.
- Urine test: A urine test is done to check for the presence of chemicals that may be associated with the condition. This is done to rule out metabolic disorders at birth.
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What are the treatment options for microcephaly?
There is no definitive treatment for microcephaly because there are no methods to grow the brain or skull that are underdeveloped. Treatment is administered to manage the symptoms and other associated conditions.
As each child with microcephaly is unique, the sort of support provided will be determined by their symptoms and illness severity.
Children with no additional issues other than a tiny head size will not require therapy.
Children with issues concerning academic, speech or motor skills may benefit from:
- Physical therapy: May help improves strength, mobility, and coordination.
- Speech therapy: May help improve language, voice, and swallowing abilities.
- Occupational therapy: May help gain confidence and carry out daily duties.
- Psychological counseling: Improves self-esteem and feelings regarding one's physical condition.
Physical issues, such as seizures and facial abnormalities, can occur in some children with severe microcephaly. These kinds of issues are dealt with individually.
Can you prevent microcephaly?
Microcephaly cannot be prevented when it is hereditary, but genetic counseling can help understand if the mutation is inherited and the risk that future children will be afflicted.
Those who reside in or visit locations where the Zika virus is prevalent can avoid microcephaly by taking precautions to avoid mosquito bites. Some health officials advise women in Zika-affected areas to postpone pregnancy until the Zika virus has been managed.
Expectant mothers can lower their chances of having a baby with microcephaly by abstaining from drugs and alcohol, eating a nutritious diet, and avoiding hazardous substances and viruses that might cause microcephaly.
Summary of microcephaly
The precise prognosis for the child is determined by the individual symptoms and circumstances. Keep in mind that a child's head size does not necessarily predict how well the child will do.
While microcephaly cannot be cured, support and therapy can assist in the development of new brain connections, even if the brain remains tiny. In the most severe situations, alternative therapies are available to help the child feel and perform better.