In general practice there is a fine line between adequately reassuring and confidently managing a baby with functional gastrointestinal disorder and under-investigating a potential failure to thrive
Neonates, babies and toddlers can present to the GP with a wide variety of functional, non-pathological disorders of feeding and gastrointestinal function. Reported prevalence of functional gastrointestinal disorders (FGID) in infants and toddlers ranges between 27% and 38%.1 Therefore, it is likely that at least one-in-three new parents will bring symptoms of poor feeding, vomiting, constipation, loose stools or crying associated with feeding to the attention of the GP.
Parents may present to the GP shortly after birth or after discharge from hospital, but most have already sought advice from friends and grandparents, or from hospital midwifery and paediatric staff. It is the role of paediatric and maternity staff to ensure that neonates are feeding properly and thriving on discharge. However, very brief hospital post-natal periods mean that babies can change their feeding habits rapidly after coming home and may develop a wide variety of feeding patterns during the first year of life.
While breastfeeding may have been initiated in hospital, switching to formula or weaning and initiating solid foods can present another challenge to new parents in managing functional symptoms of regurgitation, hard or runny stools, windiness or crying after feeds. Toddler life, with its gastrointestinal rainbow of symptoms associated with toilet training, food refusal, dietary likes and dislikes, as well as bedwetting, soiling, and stool retention can mean that by the time a GP can properly appraise the situation, new parents and their children are engaged in a seemingly permanent battle over food.
Public health nurses are very often consulted too, as they are one of the first community-based experts who visits the new born baby at home. A local pharmacy may also be in the picture. Parents may have already attempted several solutions or even have engaged with unhelpful and potentially dangerous feeding advice. Therefore, by the time the GP is consulted the baby may already have a diagnosis of food intolerance, colic, wind, milk allergy, teething, and so on, none of which is satisfactory or helpful to anxious parents or to a busy GP.
It is essential that babies and infants receive appropriate nutritional intake and that food intolerance or allergies are not assigned to babies who are presenting with functional disorders. Therefore, an evidence-based diagnostic approach is essential to help parents properly feed and enjoy feeding their babies and toddlers, while at the same time promoting optimum child health and avoiding under- or over-feeding and problems such as obesity down the line.
Parents and caregivers of babies with FGID can present a range of long-term problems for GPs too. Parents of babies with FGID may be at increased risk of postnatal depression as they become increasingly anxious, over-tired and desperate for a solution. Parents can also present with symptoms of sleep disorder, fear of not being able to cope, or fear of leaving their baby with others on return to work.
Therefore, the GP may become more involved in keeping an over-anxious mother at home on sick leave after maternity leave, if a baby seems not to be feeding properly or to have difficulty tolerating food.
Helping parents to understand FGID will help the whole family to thrive and ensure that parenting is a happy, healthy time for toddlers and small babies, and for parents too.
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FGID symptoms
Symptoms associated with feeding in infants can be poorly understood by caregivers and parents. Babies are often presumed to be in pain. They may cry for all sorts of reasons and therefore pain symptoms can be very difficult to assess when language is undeveloped or immature. While clinical examination and assessment of milestones, weight gain and developmental assessment can rule out failure to thrive, it is important to be able to accurately and rapidly assess infant symptoms and signs of functional GI disorder and to distinguish functional symptoms from pathology.
There have been two major population-based epidemiological surveys estimating the prevalence of FGID.2,3 These surveys found that toddlers and infants with FGID have poor quality of life and attend their primary care physician more often than healthy controls. During consultations, doctors reported that they realised that parental factors were as important in the presentation of symptoms as were infant factors. In other words, the additive effect of parental anxiety, beliefs and expectations cannot be underestimated as a contributor to infant symptomatology.
Parental experience and educational attainment as well as language barriers or cultural background can make diagnostic appraisal even more challenging to a GP. Therefore, having strict diagnostic criteria and guidelines for management are essential to ensure a speedy consultation and to develop a meaningful care plan that helps parents and fits in well with scheduled visits around the same time, eg. the childhood vaccination schedule and regular child health checks.
In 1994 a group of gastroenterology experts developed what are known as the ‘Rome Criteria’ for diagnosis of functional gastrointestinal disorder in adults. These criteria were based on literary reviews and were titled Rome I. Since then, the criteria have been widened to include paediatric criteria for FGID, and the current standard for 2017 is Rome IV.1
The Rome IV criteria are important because they can be used to determine whether or not pathology is present or if the disorder is functional. One of the most important challenges for the GP is whether or not to initiate investigations or to refer, when parents present a baby with gastrointestinal symptoms.
Bearing in mind parents may have already tried and failed several home remedies or consulted with a variety of experts before attending the GP, it can fall upon the GP to be the last port of call for parents who are convinced that only specialist or radiological referral will suffice.
Equally, it is important to avoid under-referring and under-investigating as early childhood illness such as coeliac disease, lactose intolerance, intestinal infection or inflammatory disorders must be ruled out. However, referral pathways can be complex, especially if consultation with dietitians cannot be directly arranged.
Referral through a paediatrics team can be time-consuming, and unnecessary invasive procedures can be potentially harmful to an already over-worked situation. Therefore, it could be said that there is a fine line between adequately reassuring and confidently managing a baby with FGID at the level of general practice, and under-investigating a potential failure to thrive.
Evidence-based diagnostic criteria therefore can help the GP to properly diagnose and manage cases of FGID and to avoid inappropriate and unhelpful referrals to specialist services.
The main difference that the Rome IV criteria made to previous Rome criteria is that thinking on colic changed dramatically while some minor changes were made to the criteria for regurgitation, cyclic vomiting syndrome, functional diarrhoea, infant dyschezia and functional constipation.4
The Rome IV criteria also included discussion of the mechanism of pain and nociceptive developmental pathways in children. Understanding neurobiological development can help GPs to accurately diagnose functional GI symptoms in babies and to advise and educate parents who fear that their children may be in pain.
Infants have developed thalamocortical pathways by 30 weeks gestation that can transmit pain, and pain pathways are immature in the newborn infant. Therefore, infantile pain thresholds are low, and pain thresholds increase with age as infants and babies do not exhibit the same inhibitory pathways as older children.
In Rome IV, the phrase “no evidence of an inflammatory, anatomic, metabolic, or neoplastic process that explain the subject’s symptoms” was removed from the diagnostic criteria for FGID. Instead, the criteria now state that “after appropriate medical evaluation, the symptoms cannot be attributed to another medical condition.”
This change means that selective or no testing is completely appropriate to support a positive diagnosis of an FGID. But all other possible medical conditions should be ruled out before a diagnosis of FGID can be made.
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Comorbidity
FGIDs can coexist with other medical conditions. Therefore, it is always essential to thoroughly examine a baby or toddler presenting with symptoms of FGID, including developmental assessment. Babies presenting with symptoms should have their temperature taken, and should be handled by the doctor and assessed for distress, dehydration and weight loss.
Physical examination should include auscultation of heart, lungs, examination of throat, ears, fontanelle, tone and reflexes. If possible the GP should include examination of stool/urine/vomitus.
Infant regurgitation
The most common FGID is infant regurgitation. This occurs in about 10-30% of infants under the age of 12 months. The incidence peaks at about 2-4 months at which time almost 80% of babies can present with regurgitation.
The term regurgitation is used when the gastric contents are visible again in the mouth after they have been swallowed and then refluxed back up. Gastric contents may spew onto the bib or onto the caregiver and can appear considerable in volume, appearing as if the baby has vomited the entire feed. Regurgitation is a normal developmental stage of infancy, and can be distinguished from gastro- oesophageal reflux disease (GORD) in which the reflux of partially digested food leads to tissue damage.
The key distinction in the Rome IV criteria compared to previous gastrointestinal guidelines is that the symptoms of GORD had previously been described as ‘troublesome’, whereas simple regurgitation without tissue damage is not. Rome IV removed the word troublesome, as it is regarded as too vague. However, the key diagnostic feature of regurgitation as opposed to GORD is that regurgitation should resolve spontaneously with GI development and is not associated with long-term sequelae.
Treatment is simple reassurance in combination with education around careful management and not over-feeding, and gently positioning the baby upright after feeds. Thickening of the feeds is often recommended, although it is important not to increase feeds with unnecessary calorie intake or to begin to include solid foods inappropriately in an attempt to reduce harmless and temporary regurgitation.
NICE guidelines recommend smaller, more frequent feeds as an initial step in addressing regurgitation.5 If smaller frequent feeds have already been initiated, a trial of thickening feed can be recommended. If this stepwise approach has been followed and the problem still persists, the thickened formula should be stopped and an alginate therapy should be tried for two weeks.
Regurgitation can be confused with projectile vomiting or genuine vomiting due to infection or illness; therefore thorough clinical examination ideally including observation of feeding and a pyloric stenosis tumour should be ruled out. The clinical practice nurse or public health nurse can be a major asset in assessing a feed and can provide a reassuring support to parents in their home.
The most important task, however, for the busy GP is to ensure that babies who regurgitate are not presenting with pathology and are not progressing to GORD. Therefore the question is who and when to investigate.6
Red flags when evaluating for GORD include failure to thrive, food refusal, difficulty swallowing, haematemesis, apnoea, chest infections or pneumonia; these warrant prompt GI referral
Neurodevelopmental delay should always be a trigger for referral. Bilious vomitus necessitates urgent referral
Regurgitation should not persist beyond the first year of life and therefore follow-up is essential even in seemingly healthy babies. Babies who are regurgitating beyond the first year can be investigated and the use of imaging studies to exclude an anatomical abnormality such as a malrotation or gastric outlet obstruction is justified
The key is the clinical examination and ideally an assessment of the infant while they are vomiting.
Rumination syndrome
Some babies habitually regurgitate food from the stomach into the oral cavity during feeds. This is thought to be a self-stimulatory behaviour and is more common in neurologically impaired children and adults. Under the Rome criteria, rumination syndrome is present if the symptoms have been occurring for at least two months. While rumination syndrome could be regarded as behaviourally induced and therefore not caused by intestinal pathology, it can lead to intestinal pathology due to chronic long-term acid reflux in older children, including dental damage. Malnutrition may be a long-term negative effect, therefore management should include an assessment of any possible behavioural or psychological roots for the problem to avoid future long-term nutritional harm.
Cyclical vomiting syndrome (CVS)
Community-based surveys in the US and Colombia7 found that parents reported CVS in approximately 3-6% of children between the ages of one to four years, and never before the age of one. This implies that CVS may have a behavioural or developmental component, rather than a solely structural GI cause, as it is associated with a more developed gut than the peak age group for infantile regurgitation.
Children can present with recurring episodes of vomiting attacks that may be sporadic or at regular intervals and which generally occur at the same time of day, and mostly late at night or in the early morning. Guidelines have previously been published by the International Headache Society that stipulated that a minimum of five attacks per year should be recorded before a diagnosis of CVS is made. The number and frequency of attacks has been reported from between one and 70 per year, with an average of 12 per year. The Rome IV GI criteria however, recommend a minimum number of two attacks per year to make a diagnosis of CVS, and that severe episodes of vomiting should be treated. Appropriate anti-emetics, and acid reducing drugs can be used to reduce the risk of gastrointestinal tissue harm.7
Infant colic
Prevalence rates of infant colic have been estimated in reviews from between 2-70% with a mean rate of about 17%, but the most recent community-based surveys in the US and Colombia have estimated that about 6-10% of babies can be diagnosed with colic according to the Rome criteria.1
Colic is described as a behavioural pattern in babies between the ages of 1-4 months, during which the parents will describe long episodes of inconsolable crying. It is important to remember that it is parents who complain of colic, and therefore reported prevalence of colic in community-based surveys varies considerably when cultural and parental factors are included in the survey methodology. There are many and no truly satisfactory explanations for infant colic. Theories include a disturbance of neuronal pathways in the infant GI system, intestinal cows’ milk intolerance, reflux and motility disorders, and altered gut microbial activity. However, none of these explanations is satisfactory to fully understand the pattern of infant crying during the first year of life.
Crying in healthy babies in infancy peaks at approximately 5-6 weeks of gestational age, declines at about five months and is associated with pathology in less than 5% of babies. This can be reassuring to parents who often present with inconsolable crying at around three months. Prolonged crying and over-anxious and exhausted parents can be problematic when the first vaccinations are due. Equally, prolonged crying and night-time crying at 3-6 months can be a risk for post-natal depression or exhaustion, and can present a barrier to return-to-work for mothers after maternity leave.
Examination and assessment of the healthy baby in the surgery can reassure parents that a baby who is crying frequently at home but is happy and healthy at the surgery is unlikely to be ill, and that night-time crying with day-time lack of crying is unlikely to represent any pathology. However, it can be helpful to refer to evidence-based criteria before diagnosing a baby as having colic, and avoid labelling a baby as colicky to over-worried parents.
Prior to Rome IV, criteria for a diagnosis of colic were that parents have to report that the infant has cried or fussed for over three hours per day, during three or more days the preceding week. Keeping a crying diary can be cumbersome and could ultimately lead to more unnecessary time being taken up with the clinician. However, accurately recording the crying can help to reassure parents that the baby is not suffering unduly, that no further investigations are necessary, and that colic is not necessarily a diagnosis in a baby who seems to cry a lot.
Parents can find it difficult to believe that their child is not suffering if crying is prolonged, regular and frequent. When any possible cause for abdominal pain has been out-ruled, it may help to tell parents that most babies cry in this pattern at this age, that this will resolve quite soon and that the evidence in medicine is that crying seems to be a normal and ultimately harmless pattern or phase of infancy. Regular follow-up with observation of a resolution of the crying cycle by the end of the first 6-12 months of life can reassure worried parents.
Clinical trials with probiotic remedies have had mixed results and while some are promising, systematic reviews have found results to be lacking. Therefore, reassurance is key in helping parents to soothe their crying babies. Parents may wish to use probiotic remedies and chemists may recommend them and there is no evidence either that they will cause harm. However, helping parents to understand the infant crying cycle may be more helpful in the long run.
Parents may be tempted to experiment with goats’ milk, low-lactose or soya-based diets. However, NICE guidelines caution against this and instead advise reassurance, parental education and support to ensure that appropriate nutritional needs are met with a recommended breast milk or breast milk substitute formula.
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Infant dyschezia
Infant dyschezia is the very common symptom of ‘grunting baby syndrome’. This is regarded as completely normal behaviour in infants and therefore received little or no medical attention in the literature until the Rome Committee attempted to define it based on a characteristic set of symptoms.
Dyschezia may be described as the behaviour of infants who appear to be struggling to have a bowel movement. Parents will describe an otherwise healthy baby who appears to be excessively straining at stool and may turn purple or even appear to become cyanosed with effort to pass stool. Some babies cry or appear to be ‘screaming’ while passing stool, and the effort can take several minutes, during which the baby may appear to the parents to be severely constipated or distressed. Straining at stool however, may not be associated with constipation, and the episode more often ends with the passage of a semi-solid or liquid stool.
Dyschezia affects between 3-6% of infants in community-based surveys. The mechanism is thought to be a failure to co-ordinate intra-abdominal pressure with the relaxation of the sphincter and the pelvic floor. Therefore it is important to distinguish this normal developmental phase from actual constipation due to dietary disadvantage or dehydrated stool.
Based on Rome IV criteria, dyschezia cannot be diagnosed after the age of nine months, and dyschezia may or may not be associated with the passage of stool. It is important therefore to avoid the use of laxatives in small babies, not to use orange juice as a substitute for milk, not to alter the recommended baby diet or add sugar or any other ingredients to a balanced formula.
Reassurance that the syndrome will pass with maturity is essential, as otherwise parents may be tempted to believe that their baby is suffering while passing stool, or is indeed truly constipated. Some parents may be tempted to stimulate the anus to provoke the passage of stool, which will ultimately exacerbate the syndrome and delay maturation of the gastrointestinal reflexes necessary for healthy bowel habits.
Simple reassurance is the important task for the GP. Examination would ideally include observation or inspection of the stool if the parents are concerned, and palpation of the abdomen to exclude major pathology. Anal or rectal examination should not be necessary if the history is suggestive of dyschezia, and follow-up beyond the nine-month age group can reassure that the syndrome has resolved with time.
Functional constipation
Between 5-27% of toddlers can present with constipation, and the prevalence increases as babies age from infant to toddler. Therefore, constipation will usually increase in severity with age, although parents will often present with a history of a baby who has ‘always’ been constipated but now that toilet training is an issue or playschool has been arranged, other family members or caregivers have expressed concern.
There is also an element of shame attached to constipation that can delay its presentation to a GP, as parents feel partially responsible for the behaviour of their children around toilet training and the appropriate passage of stool. The median age of presentation with constipation therefore is approximately 2.3 years of age and toddlers may present with a mixture of hard, infrequent stool and episodes of loose or liquid and sometimes incontinent diarrhoea.1
Holding onto stool, associations of pain or shame associated with inappropriate passage of stool or incontinence of stool can complicate a developmental phase in which a toddler is learning to control their own bowels in the context of a possibly low-fibre or unhelpful diet. Voluntary stool retention leads to stool water re-absorption and exacerbates a constipation problem with painful or difficult to pass faeces.
The Rome IV criteria make it important to distinguish in assessing a history of constipation whether a child is toilet-trained or not. The diagnosis of functional constipation largely depends on whether or not the child is actually in control of her or his own bowel habit. In the toilet-trained child, constipation can be managed with appropriate education and support for parents to ensure adequate dietary fibre, adequate hydration and a healthy bathroom routine. Older children can benefit from stool star charts and rewards.
The key is an accurate record of the frequency or infrequency of stool from the parents, and this may include other caregivers in the older toddler or school-age child. NICE guidelines on managing constipation in children recommend that if faecal impaction is suspected, disimpaction may be necessary and to be followed up with laxatives.8 Prompt initiation of a recommended disimpaction regimen can help to reduce the long-term sequelae and regular follow-up can help to keep parents reassured and well educated in managing a high-fibre, hydrating diet and to use laxatives appropriately.
Functional diarrhoea
It is important for parents to know when diarrhoea is actually diarrhoea. Diarrhoea is a stool that is a liquid that will form the shape of the container it is in. This definition can help parents to know whether or not a soft or semi-formed stool is truly diarrhoea. Functional or ‘toddler’ diarrhoea is defined as the daily, painless passage of at least three large, unformed stools for at least four weeks with an onset of between 6-36 months of age. Diarrhoea that persists beyond this age group (age three) needs to be investigated.
Careful follow-up is essential in parents who present toddlers or small children with diarrhoea.
In functional diarrhoea (as opposed to pathological diarrhoea) there is no night-time soiling, the diarrhoea occurs during waking hours and if there is adequate calorie intake the child should not be failing to thrive or suffering from any malnutrition. A careful history and regular clinical assessment of weight, height and head circumference, abdominal examination and developmental assessment should determine that the child is thriving.
Parents may feel that the child has a malabsorption if there is visible mucus or undigested food in the stool and therefore examination of the stool is useful to reassure. Toddler diarrhoea has previously been nicknamed ‘peas and carrots’ diarrhoea. The presence of undigested food is not a pathological sign in the immature gut and parents do not need to adjust the diet accordingly.
The child should not appear to be in pain and is generally quite untroubled by a functional diarrhoea, and parents can be reassured that this will resolve, usually when the child begins school.6
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References
Zeevenhooven et al. The New Rome IV criteria for functional gastrointestinal disorders in infants and toddlers. Pediatr Gastroenterol Hepatol Nutr 2017 March 20(1):1-13
Van Tilburg et al. Prevalence of functional gastrointestinal disorders in infants and toddlers. J Pediatr. 2015;166:684-689
Chogle A et al. A population-based study on the epidemiology of functional gastrointestinal disorders in young children. J Pediatr. 2016;179:139-143
Hyams et al. Childhood functional gastrointestinal disorders. Child/Adolescent. Gastroenterology 2016;150:1456-1468
NICE 2015. Gastro-oesophageal reflux disease: recognition, diagnosis and management in children and young people
Di Lorenzo, C. Infant crying, colic, and GI discomfort in early childhood. Journal of Pediatric Gastroenterology and Nutrition. Volume 57, Supplement 1, December 2013
Ferreira-Maia AP et al. Epidemiology of functional gastrointestinal disorders in infants and toddlers: a systematic review. World J Gastroenterol 2016;22:6547-58
NICE 2017. Constipation in children and young people: diagnosis and management
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