SPINA BIFIDA... a nip in the bud.

Spina Bifida... A nip in the bud.

Spina Bifida is a spectrum of congenital disorders that arise due to an error in the formation and/or closure of the spine and/or the spinal cord in utero. Put in layman’s term, it is a terminology that encompasses abnormalities that result from defective formation of the spine and spinal cord of the baby (embryo) whilst developing in its mother’s womb. Being a spectrum of disorders implies that the severity and type vary.

It is immediately clear from our definition that the disorder (Spina Bifida) occurs during embryonic life and leads to the baby being born with a malformed spine, spinal cord, or both.

Spina Bifida is a neurosurgical condition that may pose life-long challenges. The cause is not clearly known, however there are factors that increase the risk of having babies born with this condition. ?These risk factors include genetics, family history, extremes of maternal age, drug abuse/ misuse, low folic acid levels in the mother to mention some. Spina Bifida has been found to occur more frequently in families that have had an offspring with the condition, babies born to mothers that are too young or too old at the time of pregnancy, and those that misuse medications that could impart negatively on the development of the embryo. In many cases however, a risk factor is not found.

Of these risk factors earlier mentioned, the most convincing and evidence-based is low folic acid levels in women before pregnancy. It is important to emphasize here that the timeline of the folic acid deficiency being referred to predates the occurrence of pregnancy/ conception.

In the normal development of the embryo, the stage is set for formation of the brain and spinal cord two weeks after fertilization of the egg by the spermatozoa.

The brain and spinal cord begin to develop from the fifteenth day of intrauterine life, a time both parents are often unaware the pregnancy has occurred. By the end of the fourth week of intrauterine life (after fertilization of the egg), most of the processes that lead to the formation of the brain and spinal cord have been completed.

From this narrative of the development of the central nervous system (brain and spinal cord) in utero, it is evident that maternal folic acid levels before conception is of more relevance to the development of the brain and spinal cord, than the folic acid levels during pregnancy. This has formed the basis for prevention of the entity called Spina Bifida.

It is important to note that folic acid supplements prescribed to pregnant women during pregnancy as part of routine antenatal medications is given for its role in helping boost production of red blood cells, supplement mothers’ folic acid levels and facilitate development of other parts of the growing embryo/ foetus. It is not targeted at prevention of Spina Bifida.

The efforts at ensuring women of reproductive age group are enlightened and have adequate folic acid supplementation has driven low the incidence of Spina Bifida in many advanced countries where food fortification policies, enlightenment campaigns and advocacy support groups are in place. This again buttresses the role of folic acid deficiency in the occurrence of Spina Bifida, strengthened also by the fact that Spina Bifida is more common amongst lower socioeconomic groups and in low- and middle-income countries where malnutrition is rife, and policies targeted at prevention are absent.

Spina Bifida may be hidden (Spina Bifida Occulta) in the mildest forms, or open (Spina Bifida Aperta). The hidden (occult) forms of spina bifida often pose no immediate problems and may not even be detected throughout life. In few of these however, they may manifest later in life with symptoms due to excessive stretch of the spinal cord (tethered cord syndrome), spinal cord compression or other related conditions.

The open type of Spina Bifida on the other hand is obvious at birth, with the commonest type being Spina Bifida Cystica (comprising Myelomeningocele and Meningocele).

In Myelomeningocele (the commonest type of open Spina Bifida), babies are born with a with a swelling/ sac on the midline of their back/ neck. This sac most times is located on the lower back and contains cerebrospinal fluid (normal fluid that bathes the brain and spinal cord). It has an overlying raw area which corresponds to the exposed lower part of the spinal cord that failed to close in-utero. The new-born with Myelomeningocele is at risk of infection spreading to the brain (meningitis, abscess), and rupture of the sac if not treated early. The exposed, malformed potion of the spinal cord is dysfunctional and thus the parts of the body it supplies are affected functionally.

Often, babies with Myelomeningocele are born with associated obstruction to flow of the brain’s fluid (cerebrospinal fluid) leading to another disorder called Hydrocephalus. Hydrocephalus is a condition whereby the head of the baby grows larger than expected for age, due to accumulation of the cerebrospinal fluid arising from impaired flow. This may already be present at the time of childbirth or may develop days to weeks after birth.

Often, the parents of new-born with Myelomeningocele are oblivious of the other abnormalities the child may possess as they focus only on the swelling. These abnormalities include paralysis of parts of the lower limbs (due to absent nerve supply from the defective part of the spinal cord), inability to control faeces (faecal incontinence) and urine (urinary incontinence), and limb deformities (club foot). There could be other associated anomalies including abnormalities with the anus, heart, the trachea (windpipe), and oesophagus (swallowing pipe), kidney abnormalities.

In contrast, babies born with Meningocele have similar swelling on their backs, however, they have no spinal cord involvement, associated limb paralysis nor incontinence that is typical of myelomeningocele.

Spina Bifida Cystica may be diagnosed on antenatal/ pregnancy ultrasound scans in later stages of the pregnancy, however in many cases, it is first picked-up at birth.

The management of Myelomeningocele is often surgical and is targeted at closing the defect as early as possible, within days of birth. If there is associated Hydrocephalus, this is also addressed surgically by creating an outlet for drainage of the excess cerebrospinal fluid with the use of shunts or other methods. Early presentation to a neurosurgeon is key in mitigating against unfavourable outcomes.

The goal of surgery is cosmetic repair and prevention against rupture and meningitis. Surgery does not restore function to the paralytic limbs and non-functional sphincters as the spinal cord dysfunction is permanent. Afterwards, multidisciplinary care of the child and education of the parents is key to getting them comfortable with caring for these children and helping the individual to adapt socially and to regular activities of daily living. With proper management, these children do well, and are able to cope and live with their neurologic deficits. ?

Persons with Spina Bifida lead normal lives, do well academically, socially and are motivated individuals. They learn from a young age, and over time adapt their abilities to achieve maximal functionality and independence. They are often not hindered by their physical limitations and have gone on to excel in every aspect of human endeavours.

Every year, we celebrate World Spina Bifida and Hydrocephalus Day on October the 25th. The theme for this year’s celebration is ‘Elevate Your Voice’ and seeks to guarantee the human rights of children and adults living with Spina Bifida and Hydrocephalus, as well as to celebrate their contributions in all areas of life. If you have a child with Spina Bifida, or are an individual with Spina Bifida, this year’s celebration presents an opportunity to change the narrative. We should be advocates for prevention, provision of support for persons with Spina Bifida, and public enlightenment. Hopefully with our efforts, we may draw the attention and support needed to reduce the incidence of this congenital anomaly.

It is also important to know that upon birth of a child with Spina Bifida, one cannot point accusing finger at the mother as the cause of this anomaly in the baby, neither can blame be apportioned to her for not doing something right. This is because even despite the use of folic acid, some babies still develop the anomaly, a pointer to the fact that folic acid deficiency is not the only cause. We should also remember that a genetic defect in either parent (fathers inclusive) could have played a role. The stigmatization of mothers of children with Spina Bifida should thus never be heard of.

As we celebrate World Spina Bifida and Hydrocephalus Day 2022 (WSBHD22), we should seize the opportunity to enlighten the public and women of reproductive age about the importance of folic acid in preventing Spina Bifida, and advocate commencing supplementary folic acid therapy at least six months before a planned pregnancy. This would ensure a favourable milieu for brain and spinal cord development in the early embryonal life.

Lastly, I use this opportunity to call on government and the Food and Drug Agencies to recognize the need for policies targeted at food fortification to ensure Recommended Dietary Allowances (RDAs) of folic acid and other essential minerals/ nutrients, and to improve support for persons with Spina Bifida.

With our concerted efforts, we can significantly reduce the occurrence to the barest minimum, support persons living with Spina Bifida and stop the stigmatization related to birthing children with this condition.

Edward Jolayemi

October 2022.