X birth defects, treatments, and causes

We will look at the essential things you should know about X birth defects, treatments, and their causes.

Annually, 8 million children are born with congenital disabilities worldwide, out of which 300,000 die due to secondary to associated complications.

Overview of X birth defects

Congenital disabilities are structural and/or functional abnormalities of one or more body organs that do not follow normal human anatomy.

These anatomical and physiological alterations cause physical and functional disabilities in the affected individuals impairing their lives.

Some babies present with isolated deficits; however, others are born with impairments in multiple organs and termed syndromes. The severity and site of impairments determine the prognosis of the disease by affecting the life expectancy in these children.

The majority of cases of congenital disabilities have no definite cause, while some are results of medical negligence. With that said, let’s take a brief look at common birth defects.

Down’s Syndrome

It is a chromosomal disorder where a child is born with an extra pair of chromosomes on chromosome 21.

In simpler terms, chromosomes are found within the nucleus of our cells and contain genetic material transmitted by our parents that determines our physical and functional attributes.

If an extra chromosome combines with the existing one, it results in the characteristic appearance of Down syndrome.

The most evident factor that causes Down syndrome is maternal age above 40 or a previous child diagnosed with the same.

The characteristic features of Down syndrome include Mongolian faces with upward slanting of eyes, a flat nose, a protruded tongue, and short stature.

These children suffer from multiple defects in the heart, irregular bowel movements, deformed eyes, and skin. The average life expectancy is around 40 years.

The treatment for Down syndrome, however, is usually symptomatic.

Cerebral Palsy

Cerebral palsy is a common birth injury resulting from brain damage in the uterus, during, or after birth. Factors that may contribute to the development of the diseases include low birth weight, premature birth, maternal infections, and conditions.

Anything that halts the oxygen supply to the brain contributes to cerebral palsy. It has multiple manifestations, including developmental delay, loss of muscle tone making the child floppy, spasticity, and stiffness of muscles contributing to abnormal gait and posture, excess drooling, and other neurological deficits.

Treatment for Cerebral Palsy is symptomatic, and the overall prognosis depends on disease severity.

Cleft lip and palate

A cleft palate occurs due to soft and hard palates failing to fuse in the mouth. Children who have this congenital disability have an apparent cosmetic defect requiring cosmetic surgery.

The cause for cleft lip and palate is unknown, but some research indicates specific lifestyle of the mother contributes to the deficit.

The treatment for cleft lip and palate is through multiple corrective surgeries that usually begin around 3- 6 months of age.

Congenital hearing loss

Hearing loss is usually noticed after the first two months of birth when babies are unable to respond to the sound of their mothers. Congenital hearing loss may be hereditary or due to other factors. One of the leading causes of hearing loss is the Rubella virus.

Vaccinations at least two months before conceiving a baby are advised for mothers who have didn’t receive their MMR vaccine during childhood, as a preventative measure by the World Health Organization.

Hearing aids and cochlear implants, in combination with speech therapy, are used to treat patients with congenital hearing loss.

Congenital blindness

Complete or partial loss of vision in childhood may be sudden or gradual. Common causes include vitamin A deficiency, measles during the first or second trimester, congenital cataracts, premature birth, or hereditary refractive errors like near-sightedness.

The treatment regime depends on the underlying cause—for example, corrective glasses with concave or convex lenses for refractive errors.

Spina bifida

It is a neural tube defect in which the anatomical remnant of the spinal cord remains open and bulges out due to improper closure. Many hypotheses have revealed that genetic alterations, including folate deficiency in mothers, alcohol, and smoking during pregnancy, are the culprits for this defect.

The Center for Disease Control and Prevention (CDC) recommends that women of reproductive age consume 400 mcg folate supplements and a folate-rich diet to prevent neural tube defects.

For those born with spina bifida, surgical correction is the preferred treatment. Despite treatment, these children have some range of physical immobility and need walking aids or a wheelchair in severe cases.

Esophageal Atresia

The esophagus is a food pipe connecting our mouth to the stomach. When it fails to form, there is a disconnection between the digestive tract and the mouth, and this is usually detected when a baby chokes or vomits the first feed soon after birth.

Genetic defects and advanced paternal age are linked with this developmental disorder. Also, women who opt for assisted reproductive technology are more likely to have a child with esophageal atresia.

When there is a disconnection between the wind food pipe in the uterus, the child experiences breathing difficulties.

Treatment is multiple steps of surgical correction so that the baby can eat and breathe normally. Long-term survival and prognosis are unsatisfactory; however, early treatment intervention may improve outcomes.

The Takeaway

Some congenital disabilities are apparent, while some aren’t. Some, if detected early, can be easily treated with promising outcomes, while others may not respond well to a treatment regimen.

It is essential to organize awareness campaigns to educate the general public regarding congenital disabilities and their disabilities. In this way, preventable causes can be eliminated, reducing the incidence of birth defects.


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