ENCEPHALOCELE:A delve into the Biological well-being of humanity

INTRODUCTION

The whole story begins with the development of the neural tube in a tiny yet tireless embryo, resting inside the mother’s womb yet desperately waiting to enter the outside world. Embryologically, a neural tube is a hollow structure, which is generally formed in the gastrulation period, that is, during the third and fourth weeks of a female’s pregnancy. The neural tube essentially lays the foundation of the development of the foetus’s brain and spinal cord. In other words, it folds and closes itself to give an origin and thus, operationalize our central nervous system.

However, in some cases, a foetus’s neural tube might fail to close itself completely during its development due to certain factors, and this in turn leads to the development of NEURAL TUBE DEFECTS (NTDs).

Encephalocele, or sometimes biologically known as cranium bifidum, is a rare type of neural tube defect that essentially affects the cranium (brain and skull) of an individual. The defect is essentially characterized by the herniation of an individual’s intracranial contents. The development of a sac-like protrusion, which entails a section of the brain, its contents and coverings (meninges), anywhere along the center of the skull from the nose to the back of the neck. The positions of the projections are enunciated below:

At the back of the skull;
At the top of the skull;
Between the forehead and the nose.

Biological Sciences, and specifically the epidemiological studies and registries in the world suggest a well-established explicit classification of encephalocele into 4 comprehensive categories which are as follows:

FRONTAL ENCEPHALOCELE: entails the region of the frontal lobe;
PARIETAL ENCEPHALOCELE: entails the region of the parietal lobe;
OCCIPITAL ENCEPHALOCELE: entails the region of the occipital lobe;
SPHENOIDAL ENCEPHALOCELE: entails the sphenoid region of the brain.

SIGNS AND SYMPTOMS

On the basis of size, location and the amount and kind of brain tissue protruding from the skull in the herniation, the severity and kind of symptoms vary from one individual to another.

Some of the signs and symptoms include:

Delays in reaching developmental milestones;
Intellectual and learning disabilities;
Seizures;
Growth delays;
Vision impairment;
Hydrocephalus, a medical condition in which excess and imbalanced cerebrospinal fluid in the skull causes intense pressure on the brain;
etc.

CAUSES

Intrinsically, encephaloceles are caused by the failure of the neural tube to close completely during the fetal development.

But the reason as to why a person’s neural tube fails to close itself still remains cold. Moreover, most cases occur sporadically.

However, there is a growing consensus prevailing in the contemporary world that indicates the disposition of both genetic and environmental factors in the context of encephalocele.

GENETIC FACTORS:

Family History: The risk for the development of this NTD increases if a person has a family history of NTDs such as Spina Bifida, Anencephaly, Iniencephaly etc.

ENVIRONMENTAL FACTORS:

Genetic Vulnerability: A person who is already genetically predisposed (because of their family history) may carry a faulty-vulnerable gene for the condition, which may not necessarily be expressed unless it is triggered or activated under certain circumstances, such as the exposure to particular environmental factors.
External Factor influences: These harmful sources include teratogens, trypan blue, arsenic etc. which maybe ingested by the mother during her pregnancy.

DIAGNOSIS

Most encephaloceles are conspicuous enough to be diagnosed on a routine prenatal ultrasound or immediately post delivery. However, in some instances, a small encephalocele in the nasal or forehead region may get unnoticed.

If an encephalocele is diagnosed at the time of a prenatal ultrasound, further tests may be recommended by the doctor/ sonographer to detect whether additional inconsistencies are present or not.

TREATMENT

Surgical intervention is usually necessary for children with encephalocele. Currently, the only effective treatment for encephaloceles is REPARATIVE SURGERY, generally performed sometime during infancy, that is, prior to the occurrence of major developmental milestones in a child’s life, depending upon the size, kind, location and associated complications.

The reparative surgery is done to put the protruding contents in the encephalocele back into the skull, which is followed by the actual closure of the open skull. Surgery repositions the bulging area back in the skull, removes the protrusions and mends the deformities, mainly relieving cerebrospinal fluid pressure on the brain. Periodically, shunts are also placed to drain the excess cerebrospinal fluid from the brain, thereby, preventing the possibility of the development of another encephalocele after the surgery.

However, the success and effectiveness of the surgery depends on the severity of the case.

FACTS AND FIGURES

Encephaloceles are one of the most uncommon biological conditions, which occur at a rate of 1/5000 live births worldwide.
Some Epidemiological researches claim that females are more likely to have a POSTERIOR ENCEPHALOCELE, while males are more likely to have an ANTERIOR ENCEPHALOCELE.
Researches also claim that while POSTERIOR ENCEPHALOCELES are more common in the Western populations, ANTERIOR ENCEPHALOCELES are more likely to occur in the Southern and Eastern populations.
According to a research conducted by Hemonta K Dutta and Pradip Deori in 2010, this defect was more commonly seen among the children of the ethnic tea garden workers in Assam, India.

CONCLUSION

NTDs are essentially the products of the failure of the neural tube to completely close itself during the gastrulation period. These defects are pre-natal, and often have no specific causal conditions. Encephaloceles are a kind of NTD, which can interfere with the learning, intellectual, developmental and/or visual abilities of the children affected, if not diagnosed and treated on time.

A deeper look into the study of encephaloceles reveals that many a time, reparative surgical interventions render ineffective and might even fail due to the complications of the patient’s case, which may lead to a significant amount of Psychological and financial distress, especially among the child’s parents. Furthermore, repetitive shunting in children post the surgical operation in order to regulate the amount of cerebrospinal fluid in the brain might eventually lead to a sense of fatigue, demotivation and irritability among the patients.

As Budding Psychologists, we all are, somewhere within, conditioned to associate a person’s well-being with the quality of their psychological, biological and personal lives. But perhaps, we forget to delve in deeper into the biological literature of well-being. An intensive research on the topic of NTDs definitely enhanced my way of looking at psychological well-being, from a biological perspective. And I hope the same happens with you too!