Hirschsprung's Disease: Perspectives upon Late Presentation in India and Developing Nations.

Ram Samujh

Constipation is a public health problem of global concern with a reported prevalence of up to 30%.[1] The prevalence is higher in South Asia and South America than other parts of the world[2] which may be related to the transition in economy, urbanization, rising levels of psychosocial stress, and other biopsychosocial risk factors, poor parenting skills, and maltreatment of children.[3] More than 95% of cases of constipation in children are essentially functional in etiology.

Constipation is not linked to mortality directly. However, it results in a suboptimal health-related quality of life for children which translates into retardation of physical growth milestones, poor school performance, and deficiencies in child education. Studies have depicted a correlation between constipation in childhood and the development of irritable bowel syndrome in adulthood.[4]

The persistence of fecal loading in the long term leads to pressure effects on the posterior wall of the urinary bladder, trigonal irritation, and bladder neck or urethral obstruction. It is not uncommon to encounter urinary morbidities such as lower urinary tract dysfunction including urinary obstruction, urinary incontinence, enuresis, higher postvoid residues, and recurrent urinary tract infections in children with constipation.[5] Failure to address the problem in the long term may lead to physical and psychological problems in the long term.

One very important aspect in the management of such cases is to confirm the functional etiology and rule out the organic causes, Hirschsprung's disease being one of them. Hirschsprung's disease or congenital intestinal aganglionosis caused by the failure of migration of neural crest cells during the fetal life is seen in approximately 1 in 5000 live births which would imply 4000 cases annually at the current birth rate in India.[6] The resulting functional intestinal obstruction is best managed surgically by excision of the aganglionic segment of the intestine followed by restoration of bowel continuity. Up to 90% of these patients give the first indication of the disease at the time of passing the first meconium which is invariably delayed.[789] As per literature, nearly up to 90% of the patients present during the neonatal period with symptoms consistent with altered bowel movements, distention of the abdomen which is progressive, poor oral acceptance, and failure to thrive.[1011] The diagnosis is delayed beyond 4 years of age in <10% of the patients.[1213]

Contrary to the literature reports, the Indian experience is in stark contrast. In our department at PGIMER, Chandigarh, at the first presentation, only 57% of the 484 children with Hirschsprung's operated over the past 4 years (2017–2020) were under the age of 1 year; 25% were 1–4 years of age while the remaining 18% were more than 4 years of age.

LATE DIAGNOSIS OF HIRSCHSPRUNG'S DISEASE IN INDIA AND DEVELOPING NATIONS

While contemplating upon the different reasons accountable for the late diagnosis of Hirschsprung's disease in India and the other third world countries, a lot of factors integral to the set-up of the native nations need consideration.

Any definition of constipation is relative

There is a paucity of awareness among the general public as well as the ground level health-care workers regarding the frequency of bowel movements and the stooling frequency in the newborn and the trend as the child grows through toilet training.

It is difficult to define constipation objectively; it depends on the stool consistency, stool frequency, and difficulty in passing stools. Moreover, there is a transition in the stooling pattern of a newborn till he is toilet trained. A child may have a stool frequency of twice a day or once in 3 days, yet it may not be constipation depending upon its consistency. It takes a long time for the parents to conclude that their child is constipated and a longer interval before they come to terms with the fact that their ward needs a medical opinion.

At the level of the physician, workup starts with evaluation on the lines of functional constipation, a subgroup which forms the overwhelming majority of these cases.

A surgical referral is a postexclusion consideration

Most of the medical personnel would default with medical management of constipation and a surgical consult is contemplated only after a “prolonged” trial of medical management fails. Alternatively, a patient with a huge load of prescription documents, tired of shifting loyalties from one physician to another, is referred to a surgeon to conclude his quest in earnest. While the patient climbs one-step-at-a-time up the unspelt protocol, a lot of many of them lose the motivation and tend to accept constipation as a way of their kid's life and lose a few years before upgrading their search for a medical opinion.

High prevalence of functional constipation in the pediatric age groups

Functional constipation is prevalent in up to 30% of children and accounts for 3%–5% of visits to the pediatrician.[14] A physician who is not sure of the etiology behind constipation may start with management on the lines of functional constipation is likely to be correct whatsoever, yet he will end up delaying the diagnosis of Hirschsprung's disease in an infrequent patient.

Ignorance among the parents

Regarding the normal patterns of stooling in kids is not uncommon in the developing countries where most of the time and resources of the parents and the family are utilized in earning bread for the family and making the ends meet. In fact, it is a common observation to find more than 4 kids in “nuclear” families, fathers conveniently unaware of the stooling behavior of their kids, and mothers who find peace by ignoring the bowel complaints while they focus on the “more” important aspects of the family.

Constipation

A child will not complain of constipation unless overtly symptomatic by symptoms such as pain during defecation, distention of the abdomen, or vomiting. The economic and physical structures of the families may be such that the subtle or early presenting signs of disease are generally ignored/accepted unless they start causing problems which interfere with the daily life.

Lack of awareness toward the surgical causes of constipation

Such as Hirschsprung's disease among the first-stop health-care workers such as the multipurpose or anganwadi workers in the villages, the registered medical practitioners, and the general physicians is yet another reason why such cases are not referred to the surgeon for an evaluation at the appropriate time.

Parental nonacceptance of a surgical consult

For constipation is not unusual in view of the high prevalence of constipation (functional) in the society which is being managed conservatively. The economic burden on the family, the inability to meet the expenses within the family income, the inaccessibility to the medical (or surgical) resources (due to distance, time, and cost involved), government or private, all contribute to the flavor. Nonetheless, children constitute the economically dependent members of the family and the needs of the bread earners are prioritized over them.

General nonavailability of expertise or technology to facilitate investigations

Such as anorectal manometry, barium enema, or a suction rectal biopsy is an important concern. More often than not, patients, especially from the interior or peripheral locations have to travel for even 500 km or more for getting the essential workup. Besides the cost of traveling, the other considerations are ignorance, lack of confidence to visit the big cities, leave from work, loss of salary, and cost of putting up in the big towns. The “long dates” in the already overwhelmed system also play the “devil's advocate.”

General belief that children will outgrow constipation

There is a general belief that constipation in children is self-limiting and will resolve spontaneously with age. This is circulated among the general public and finds its way to the families with children affected with constipation, thereby providing comfort and solace against seeking medical attention. Contrarily, poor long-term outcomes have been observed in children with a long gap between the onset of constipation and initiation of appropriate therapy.[15]

The reversal of cause-effect relationships

Emotional disturbances such as aggression, anxiety, depression, and altered emotional reactivity[1617] developing as a result of constipation are sometimes interpreted erroneously as primary behavioral disturbances and constipation as a sequel. Not frequent, though the altered cause-effect relationship herein shifts the surgical causes of constipation lower down in the list of differentials.

The poor family economy

Is in itself an important and independent factor limiting these patients from reaching the appropriate platform while it contributes to the other factors working in the same direction.

Public health authorities

Of any country constitute an important platform to address problems of public concern at a national level by creating general awareness and generating appropriate infrastructure and systems. However, Hirschsprung's is not a common condition and the respective authorities have not yet taken appropriate cognition of Hirschsprung's disease in view of other more severe or more prevalent problems at hand.

Lack of consensus guidelines for surgical treatment of functional constipation is a set-back for surgical consult

Surgery is considered an option in cases with intractable functional constipation not responding to medical management. There is, however, a lack of consensus guidelines for the management of such children among the surgical community. In the absence of protocolized surgical management and high-yield surgical options, the high impact associated with surgery and the cost of procedures such as botulinum toxin makes surgical consult for such cases a distant option. The diagnosis of Hirschsprung's disease which constitutes a small, imperceptibly amalgamated proportion of this heterogeneous group is further delayed.

COVID pandemic

Last but not the least, the advent of the pandemic has given a further jolt to these patients over the past 18 months by restructuring the medical facilities world-over to prioritize care in favor of cases affected with the novel coronavirus and shifted the care of all nonemergent conditions to the backyard. Moreover, with the gradual and phased resumption of medical facilities, the patients with malignancies or failing renal function or other such problems are being prioritized medically and surgically while Hirschsprung's continues to wait.

Having dwelt upon the problem statement and the pathways culminating in its existence, the onus of carving the way-out of this situation falls upon the literate “few” and the path treads through generating awareness. Besides establishing a fine balance between preventive and curative medicine, problem assessment, policy development, and planning are the important pillars. The ongoing COVID pandemic has reemphasized the importance of collective and synchronized efforts, imparting knowledge and motivation to the masses, and the development of a public health mindset for the community; the same tenets hold true in the current context as well.

The best way to ensure early diagnosis of Hirschsprung's disease and to prevent the long-term complications or poor treatment outcomes of constipation is to identify the cases very early in the course of the disease and initiate timely interventions. A list of remedial measures to ameliorate the problem of late diagnosis of Hirschsprung's disease in India and other developing nations has been suggested [Table 1]. The complaints of constipation and the pattern of stooling in children should be actively questioned on all visits to the pediatrician or other health-care personnel. Such interactions at all levels such as the home (including but not exclusive to visits by dais and anganwadi workers) or health-care facility (primary, secondary, or tertiary levels) may be regarded as opportunities to enlighten the parents and caregivers regarding healthy diet, good bowel habits (highlighting the importance of an appropriate balance between the volume of fluid and fiber), toilet training, and the clinical indicators of constipation.

Table 1

Suggested remedies to ameliorate the problem of late diagnosis of Hirschsprung’s disease in India and developing nations

Spreading general awareness regarding stooling patterns in children, constipation, and the fact that some causes of constipation may need to be managed surgically. Besides, the awareness regarding the “red-flags” indicating the need for a surgical workup needs to be generated

• Among the health-care workers

• Among the general public

• At the level of school-going children

Regular screening of school-going children

• By health-care workers or trained paramedical personnel

• By school teachers

• By means of questionnaires circulated to the parents

• By means of smartphone applications developed for this purpose

Involvement of nongovernment organizations, public health authorities, and other forums (including radio, television, and newspapers) at appropriate levels

• Initiation of screening programs at the national level with • outreach to the peripheral, rural, and remote locations

• Training of the existing medical and paramedical workforce in the country

• Promotion of stool hygiene from a very early age in appropriate measures

Targeting the budding population of the healthcare and related personnel at the training level: Tailoring the curriculum to include the different aspects of constipation

• Doctors from all the systems of medicine and not just Allopathy (Ayurveda, Yoga, Naturopathy, Unani, Siddha, Sowa-Rigpa, and Homoeopathy)

• Nurses and other paramedical personnel involved with the treatment and well-being of children including neonates

• Curriculum of dietitians, public health workers, clinical research professionals, etc.

Formulation of standard, age-specific guidelines for the diagnosis and treatment of constipation in children, and highlighting the need and place for a surgical consult including the clinical markers suggesting the need for a surgical workup and their implementation at all the levels within the health-care system, both public and private will help in formulating a rational approach in day-to-day clinical practice.