Newborn Presentations

People get worried about newborn babies.  When presented with a baby problem, there are a few basic rules to apply:

Most things that newborns present with are unlikely to have a significant cause.  Some presentations are more concerning that others and while there are no absolutes, it is good to know which things to be more suspicious of.

In many cases, it is possible to significantly change the index of suspicion by knowing the red flags to look out for.

Let's look at a few examples:

Imperfectly shaped head

Since the discovery that putting a baby to sleep on their back dramatically reduces the risk of sudden infant death, there has been a significant rise in the number of babies and infants with asymmetrically shaped heads.

Picture credit: https://commons.wikimedia.org/wiki/File:Plagiocephalie.JPG

The vast majority of babies with this presentation will have plagiocephaly - the result of gravity on a compliant skull.  Plagiocephaly has no apparent risk of harm and requires no intervention.  However, this presentation nicely illustrates the general principles of assessing any presentation in a baby because there is a significant pathology that is rare but significant - craniosynostosis.

So while the head shape is very likely to be nothing to worry about, it is still necessary to look for evidence to support that decision.  The head should be palpated and measured (and plotted), the baby should be given a neurological examination and development should be assessed.

It also follows another rule of newborn presentations: where there is no credible pathology, we should do as much nothing as possible.  We should avoid unnecessary tests and treatments. Remember that the baby is your patient.  Don't do anything to them that does not stand to benefit them directly.

Sticky eyes

While the temptation is to presume that sticky eyes are due to infection, this is rarely the case in newborns.  In most cases the problem is a blocked tear duct.  True eye infections are uncommon and usually quite obvious.  This presentation nicely illustrates the general principles of:

• Assess the problem - Is the conjunctiva red?  Is there periorbital redness and swelling?
• Look at the baby - Do they appear well?
• Decide if there is a significant problem (ophthalmia neonatorum)
• If not, don't do an unnecessary test (swab) or give an unecessary treatment (antibiotic drops)

Excessive crying

Babies cry.  How much is excessive is hugely subjective and open to interpretation.  Although excessive crying in the absence of pathology has been given a name (colic) this scenario demonstrates the principle that we can't always offer a diagnosis.  Calling the problem colic implies that we know what causes the problem and validates an interventional approach.  There is no treatment for excessive crying in the absence of pathology that has a good evidence base.  Sometimes honesty about uncertainty and futility of intervention is the best policy.

Regurgitation of Feeds

Note the use of the word regurgitation.  People often use the word vomiting or even "projectile vomiting" when neither is what is happening.  Babies often bring back some milk after a feed.  This is generally a passive event, as opposed to vomiting, which is what happens when peristalsis works in reverse or against an obstruction such as pyloric stenosis.

By now, you probably know what I'm going to suggest.

• Assess the problem - Is regurgitation the only symptom?  Are there red flag features (see above)?  How long has the problem been occurring?  Has it changed much and if so how rapidly?
• Look at the baby - Do they appear well?  Do they appear well grown?  Plot their growth on a chart.
• Decide if there is a significant problem (e.g. Pyloric Stenosis) or whether they could be in a feed-cry cycle.
• If not, don't do an unecessary test or give an unnecessary treatment.  If you give alginates to every regurgitating baby, you'll double your workload as they come back the next week with constipation and without the original symptom having improved.

Not opening bowels for X number of days

Guess what?  Yes: in most cases, the baby who has not passed a stool for the past few days is usually going through something that is normal in the first few weeks of life.

As with all of the low risk newborn presentations, if the baby looks well, examines normally and is growing and developing normally, they are normal.  If something is significantly wrong, it should manifest itself in the history or examination.  In most cases, we should normalise this presentation rather that give something to treat it.

It can be really difficult to do nothing when faced with a baby and a concerned parent.  However, a careful clinical assessment and evaluation are the most important interventions you can offer.  If you have done that and not come up with something serious, explanation and safety netting are the premium service, not the economy class package.

Umbilical presentations

There are rare and significant pathologies that can affect the umbilicus.  Most of these will present at birth or in a way that alerts the clinician to the fact that something is clearly not right,  The more common presentations and the best approach to each are:

• Umbilical granuloma - leave it alone
• Umbilical hernia - leave it alone
• Umbilical stump being sticky and smelly - leave it alone unless there is evidence of omphalitis

Skin presentations

Lots of things can happen to the skin of a baby in the first few days and weeks.  Most presentations are either normal phenomena (peeling skin), dysfunctional but harmless (erythema toxicum) or problematic but mostly uncomplicated (cradle cap).

Picture credit: Skin Deep - a DTFB project

In each case there are simple questions to be answered

• Peeling skin - Is the baby well?  Is there dermis exposed by the peeling skin (if so then epidermolysis bullosa is a possibile diagnosis)?
• Erythema toxicum - Is the baby well (erythema toxicum is completely harmless)?
• Cradle cap (seborrheaic dermatitis capitis) - Is the baby well?  Does the skin have signs of infection?

Peeling skin and erythema toxicum are best left alone.  Cradle cap can be treated with olive oil in most cases.  Occasionally it can become infected.

Jittery Movements

Sleep myoclunus is a normal phenomenon at all ages.  In babies it can cause people to worry thet their child is having a seizure.  This is partly due to the protective reflexes that they are born with such as the moro reflex.

Here we go again with the standard procedure for a newborn presentation:

• Assess the problem - Are the movemments occuring during or around sleep time?  Is the baby otherwise normal in between episodes?
• Look at the baby - Do they appear well?  Are they developing normally. Measure and plot head circumference.
• Decide if there is a significant problem (e.g. Infantile spasms/ West syndrome)
• If not, don't do an unecessary test or give an unnecessary treatment.  Explain, reassure and give safetynetting advice.

Demedicalising infancy is a good thing to do.  The simple apprach of assess, look and decide will allow you to do that in the majority of cases.  In the rare cases of the discovery of a red flag or atypical presentation, there are always the options of advice or referral.

Edward Snelson
@sailordoctor

A Whole New World - Honesty in Paediatrics

Paediatrics is a specialty where lying about a diagnosis is normal practice.  It's not because we're bad people.  When you think about the challenges of diagnosis in children combined with the expectation of a diagnosis, it is completely unsurprising.  The adult accompanying the child would like a diagnosis (please and thank you) and the clinician would very much like to give one (you're welcome).

While that all seems very reasonable, in child health it often isn't entirely truthful.  It is one of the mantras of medicine that the diagnosis is going to come from history and examination in most cases.  Hurrah for clinical diagnoses.  In paediatrics, the history is often from a third party and will have an inevitable element of bias.   The examination will also contain more uncertainties more of the time.  You have to accept a significant lack of information when interpreting examination finding in children.

The result of this is that clinical diagnosis is more challenging in paediatrics.  Here's the paradox: clinical diagnosis is the default position in child health.  Why?  Because we don't want to do tests on children or give them treatments "in case" unless these investigations or therapies are very likely to benefit the child.

This week, something big happened and it didn't even hit the news.  The General Medical Council released some new and updated guidance: "Guidance on professional standards and ethics for doctors Decision making and consent."  While much of the content is old news, there is a new emphasis on honesty when there is diagnostic uncertainty that is hugely relevant to paediatric practice, thanks to the fact that uncertainty is where we work.

So, when are we lying to our patients or the adults that accompany them?  The truth is that there is a spectrum of how far what we tell people lies from the truth.  What we should probably do in the light of the new GMC guidance is to re-evaluate our approach to a variety of clinical presentations and ask, "Should I change what I say about this?"

You could argue that nothing is certain in medicine, so what are the thresholds of uncertainty that decide when we should be honest in this way?  That's a fair comment.  We need to apply some measure here - enter the certometer.

The certometer takes the things that we are already using in our diagnostic approach and gives us an idea of how truthful it is to give that diagnosis.  Last week, I asked the medical Twitter world for a few suggestions of diagnoses that we could feed into the Certometer and this seems like a good time to give this contraption a go.

First up is an intriguing suggestion:  Diagnosis - Viral illness.

In my experience this diagnosis is usually given to children with a fever and signs or symptoms of upper respiratory tract infection without signs or symptoms of a more specific diagnosis.

Let's imagine a common scenario then: a 2yr old previously healthy child with a fever for 2 days.  They have a runny nose but no cough.  They have no respiratory abnormality.  Pharynx and both tympanic membranes are inflamed.

The pre-test probability of this being a viral illness is high. It's a child with a fever so the probability that the illness is viral is around 90%.

Positive predictors of a viral cause do exist and include wheeze and urticarial rash in children. This child has none of these things.

Good negative predictors of a diagnosis of viral illness in this sort of case would be some signs of suppurative complications such as mastoiditis.  We haven't seen any signs to suggest this.

So having looked for something specific that truly discriminates and found none, what you are left with is your pre-test probability, dialled down slightly by virtue of the absence of signs of another diagnosis.  In other words, all we have truly achieved is to rule out complications.  Since complications are rare, we're essentially no more certain this is a virus than before we started.

Calling it a viral illness implies that we've added some certainty to the underlying cause that in reality, we haven't.  In fact, by calling it "a virus" we have admitted that there are no specific finding identifying a particular viral illness.

What we have done is far more important.  We have looked for signs of complications and more serious infection (sepsis, meningitis etc) and found none.  What we can say with honesty and certainty is that this is an uncomplicated upper respiratory tract infection.

To emphasise the point about how often the lack of specific signs and symptoms is the norm in paediatrics, I'll give a couple of examples of common, clinical diagnoses that are usually made with enough certainty to be considered completely honest.

• Croup
• Chickenpox
• Febrile convulsion
• Vasovagal syncope

Yep, that's pretty much it.  Most other common problems are really labels given with real uncertainty due to the lack of specific signs or symptoms with good positive or negative predictive value.

Here are a few other examples of diagnoses that are commonly given in what is in reality a great deal of uncertainty that this problem is causing the symptoms or signs.

• Infant reflux disease
• Cow's milk protein allergy (non-IgE)
• Asthma
• in the under 5 yr old child
• where the diagnosis is based on chronic cough without wheeze
• Mesenteric Adenitis
• Hypermobility

Then there's a whole new level of diagnostic uncertainty.  At the beginning I used colic as an example.   Let's try feeding a classic colic presentation into the Certometer.  You see a three week old baby whose only symptom is "crying all the time".  The pregnancy and birth were uncomplicated.  The baby examines normally and is thriving.  They are feeding well and passing urine and stools normally.

What is the pre-test probability that this is colic?  Unfortunately there's no good answer to that because it's not an actual disease.  There is no pathology or treatment.   Colic is simply a label to be given to crying infants that have no pathology.  If you try to put this through the Certometer, you will break it because you can't have any certainty of something that doesn't exist.

It is often argued with colic that the label is therapeutic.  The new GMC guidance should give us an opportunity to re-evaluate that approach.  What would be wrong with telling the parent of the infant described above that their baby is normal and healthy?  That would be honest and potentially just as therapeutic.  We could then use the time that we might have spent (explaining a condition that doesn't exist) on being supportive and encouraging to the parent.  The crying excessively phase does settle and in the meantime, it's all about making sure that it doesn't break the parent.

Here are a couple of other examples of diagnostic labels in children that are without evidence for any disease process.  Neither of these has ever had any pathology associated or been shown to respond to any treatment:

• Growing pains
• Non-specific abdominal pain

Is it time to embrace the idea of greater honesty when we diagnose and explain symptoms in children?  I certainly find that an explanation without a diagnosis is entirely acceptable to families when it comes to a situation where in the past I might have given a non-diagnosis.  Changing that practice is relatively straightforward.  You simply stop saying the thing.

For the situations where we are dealing with an actual diagnosis but there is significant uncertainty, we've got a few options.  The infant with crying and regurgitation of feeds is a good example.  Perhaps we should be stricter about starting off with a label of "possible GORD"?  Perhaps we should go further and start with "Feeding symptoms under observation and follow-up."  Increasingly, I don't give a diagnosis.  Instead I tell the parents that (in the absence of red flags such as fatering growth) "crying and regurgitation can be normal, it can be early symptoms of reflux disease and it can be rarer problems such as allergy.  We don't want to give unnecessary treatments to babies but we also want to treat problems when it's going to help.  This is how we're going to try to get the right balance between those two things..."  

It's a whole new world being honest about our uncertainty but it does work and it works like this:

Edward Snelson
@sailordoctor

Disclaimer: I am not certain about any of that, or that you or I exist.

Reference

General Medical Council UK, Guidance on professional standards and ethics for doctors Decision making and consent, 9 November 2020

We should talk more often - Treating CMPA in infants and assumptions between primary and secondary care

It's not uncommon for parents to bring their infant with a feeding problem to an emergency department.  Although that might seem like a problem best managed by a GP or other primary care clinician, it is also understandable that parents seek answers wherever they can find them when their baby seems to be constantly miserable.

The natural tendency of many infant presentations to self-resolve (colic, mild reflux etc.) means that rather than always medicalise the situation, watchful waiting is often the best strategy.  If the problem is non-IgE cow's milk protein allergy (CMPA) then delay in intervention leads to prolonging the infant's misery.  Getting the balance between overdiagnosing CMPA and avoiding a delay in diagnosis is not easy.  It involves careful history taking and thorough examination alongside a sympathetic but objective approach.

During this process, it is common for parents to feel that they are not being taken seriously or that no-one is doing anything.  The reality is almost certainly that they are being taken seriously and that a lot of work is being put in by the clinician seeing them.  However, it can be that the parent feels that they are no further forward and so come to the Emergency Department (ED) to seek what they percieve to be a more specialist opinion.

If an infant genuinely does have non-IgE CMPA, that diagnosis will rarely be made at first presentation because the symptoms are too vague and non-specific.  Gastro-oesophageal reflux disease (GORD) is more common and in many cases this is the presumed diagnosis for the miserable infant regurgitating some of their feeds.  The diagnosis of CMPA is often not made until the third or fourth attendance.  This is entirely reasonable since it takes time to establish a pattern of symptoms and to consider other possible diagnoses.

Let's imagine that the third or fourth time that the parents of a formula fed infant seek help is the time they go to the ED.  They are seen by one of the doctors and that person thinks that on balance, management as possible CMPA is the logical next step.  What should that clinician do - change the milk or send them back to their General Practitioner?  This question of who should do what is an interesting one that causes much debate.

There are plenty of arguments for the ED clinician to make the change.

• The ED clinician has decided that they think it is the right thing to do.  There is an ethical mandate to either do it or facilitate the change in milk.  Sending the parents away without making the change themselves poses a risk.
• Changing the milk avoids some duplication of work for the GP.
• There is no guarantee that the parents will be able to get an early appointment with their GP and any delay might mean unnecessary suffering for infant and parents.

There are also arguments against the ED clinician changing the formula:

• Assuming there has been some continuity at the GP end, the GP will have a better idea of the full picture rather than just the one presentation to the ED.
• By changing the milk, there is potential to undermine the GP ("My GP did nothing but the hospital diagnosed and treated...") and reinforce the belief that the ED is the place to go for everything.
• There is a possibility that by doing so, the GP's equally valid but slightly different plan is derailed.  Once the change is made, it is extremely difficult to undo that change.

We want the infant to have the right treatment in a timely way but we also know that it is in everyone's interest that we don't end up undermining the relationship between that family and their GP.

Another factor that affects the decision is the uncertainty that is brought about by the primary-secondary care divide.  Each group will tend to have its own opinion about the best way forward.  Due to a woeful lack of converstaion between primary and secondary care, there are often assumptions made rather than actual converstions about such matters.  In the digital age, there is no real excuse for a lack of discussion about these things so I decided to ask both sides what they thought.

First of all I asked the primary care community what they thought should happen.  Three quarters thought that the ED clinician should change the milk.  About a quarter thought that the child should then stay under secondary care.  Another quarter wanted to retain control of the decision making in primary care.

Next I asked the EM community what they thought they should be doing.  The results were remarkably similar.

I found that very interesting.  While there was no overwhelming consensus on the best action in these cases, there was good agreement and certainly nothing that could be described as opposite views.  As well as suggesting that changing the formula and returning the child to the care of their GP is likely to be the most acceptable way forward, it shows that there may be times when the assumption that the two communities will have very different views will be wrong.

There are many percieved differences between the views of primary and secondary care clinicians.  If we go about it the right way, we might be able to explore those perceptions in a functional and constructive way.  We might better understand the differences in approach if they do exist and learn from each other.  We might, as in this case, find out that the imagined differences are not all that real.  Of course, done badly, it will end up with upset and opposition.  Let's not do that - we're all on the same team.  Whatever we do, we should come at these discussions with positivity and an open mind.  In the era we are in, there is no good reason to allow percieved differences to remain unchallenged or unresolved.

Thanks to everyone who took part in both polls.  If you have any other suggestions for similar issue that could be explored, let me know (post in comments below or contact me via social media).

We should definitely talk more often.

Edward Snelson
Assumptionologist
@sailordoctor

If anyone is wanting to get involved in the conversations on Twitter but feels cautious about it, there was a great guide written recently by the Don't Forget the Bubbles team which would be useful for anyone who would apprectiate a little guidance in what to do when starting up on Twitter.

Leo, G. Don’t Forget The Twitter, Don't Forget the Bubbles, 2019.
http://doi.org/10.31440/DFTB.18310

Too much choice - What milk do you need to give a baby with a feeding problem?

To paraphrase one of my favourite comedians (John Finnemore) - Once upon a time there was too little choice.  Then around 1980, there was just the right amount of choice.  Now, there is way too much choice.  In paediatrics, this is perhaps more true for special milks than any other treatment decision we make.

Have you been to a supermarket recently to buy some milk?  Just trying to find what you want when you know what you want can be overwhelming.  Should it be 0% fat?  1%? 2%? Organic? Cow's milk? Goat's milk? Filtered? I could go on but you get the idea.  There is just too much choice.

The same is true when trying to decide which milk to use* for a baby with a feeding problem.  There are so many possibilities that it can be quite confusing.  Don't worry though - all the choice is an illusion.  There are only a few real differences which can easily be explained.  The best way is probably by going through the problems rather than the milks.  So here we go.

*Note that this only applies to choice of formula in formula fed infants.  While breastfed babies less commonly develop problems such as milk allergy, the solution is not to change them to a formula feed.  It should be possible to continue breatfeeding no matter what the problem is.

Colic

What is it?  Nobody knows. No cause has been found to really explain why some children cry a lot of the first few months of life.

Which special milk helps this condition?  There is no good medical evidence from RCTs published in peer reviewed journals that I know of to support the use of any special milk.  The keystones of managing colic are to rule out other pathology and to give a good explanation of the condition to the parents.  Ultimately, the only thing that really works to resolve colic is the passage of time.


Gastro-oesophageal reflux disease (GORD)

What is it?  It is normal for babies to reflux/ regurgitate milk.  GORD is the term used to label reflux associated with significant symptoms such as marked and persistent distress.  The amount of milk that the infant brings back is not what separates GORD from physiological reflux.  If a baby has several large regurgitations a day but is minimally affected, this is not considered to be a disease. (1)

The first thing to do is to make sure that the infant is not overfeeding.  This is a surprisingly common scenario that is reasonably simple to manage.

If you suspect that the distress and vomiting is related to overfeeding, try reducing feeds to 150ml/kg/day under the age of three months and to 120ml/kg/day if over the age of three months.  Those targets are a rough guide and overfeeding is only likely to be the issue if the volume of feed is well over those guideline amounts.

Which special milk helps GORD? Most infants with GORD are symptomatic due to reflux of milk, rather than having a problem with acid reflux.  This is almost certainly why the evidence for routine use of acid suppression treatment (PPIs and H2 blockers) suggests little or no effect.

For infant GORD without red flags the mainstay of treatment is to avoid over-feeding, and to use a thickener in a standard feed.  Alginate preparations should be used as second line treatment since they have a high risk of causing constipation.  There are reflux milks on the market which are essentially standard milks with thickener already blended in.  These are not usually prescribed.

Lactose Intolerance

What is it?  Inadequate production of the enzyme lactase in the bowel means that lactose (the sugar in milk) is left undigested.  Bacteria then ferment this sugar and produce noxious chemicals which inflame the bowel, further diminishing the ability to produce lactase.

Lactose intolerance is often secondary to an episode of viral gastroenteritis, in which case it will resolve (and more quickly so with the right milk).  Primary lactose intolerance is actually very rare according to the epidemiologists.  There is an inexplicably large difference between the epidemiology of lactose intolerance, and the frequency with which it is diagnosed by parents and clinicians.

Possible reasons for the overdiagnosis of lactose intolerance include:

• Lack of specific symptoms - normal infant crying and colic might be labelled as lactose intolerance
• Confusion with Cow's Milk Protein Allergy, which is more common.
• Confirmation bias - Colic and reflux symptoms both have a tendency to resolve in time.  If the resolution of symptoms happens to occur after a change in milk, this will give the wrong impression that the special milk caused the improvement in symptoms.

Which special milk helps this condition?  If an infant genuinely has lactose intolerance then a lactose free milk will result in a dramatic resolution of symptoms, usually within days.  There are numerous lactose free formulas which are commercially available.  Soy milk is also lactose free but is not recommended for infant boys as the effect of phytoestrogens is unknown.

Lactose free milk does have the potential to cause more dental caries than standard milk, so there is good reason to avoid the overdiagnosis of lactose intolerance.


Cow's Milk Protein Allergy (CMPA)

What is it?  Well, confusingly, there are two types of CMPA.  IgE type CMPA is what you might call a classic allergy.  With this immediate type of response to cow's milk protein, typical symptoms include wheeze, urticaria, swelling etc.  Usually, it is quite obvious that the child is having an allergic reaction, leaving the main question to be what the allergen was.

In most cases, infants usually have a non-IgE CMPA.  This is sometimes referred to as milk intolerance, which causes it to get confused with lactose intolerance.  I prefer to avoid that term to avoid this misunderstanding.  Non-IgE CMPA is predominantly an enteritis, without systemic features.  As such the symptoms are vague and difficult to distinguish from other conditions such as GORD and colic.

Clues that an infant may have non-IgE CMPA include

• Onset of symptoms at an age which is atypical for GORD (e.g. over 6 months old)
• Symptoms that may originally have suggested GORD but fail to respond to treatment or progress despite treatment
• Lower GI symptoms
• Significant eczema.  The relationship between eczema and CMPA is complicated.  Eczema is quite common and colic is also common.  As a result, it would be foolish to say that eczema + unsettled child = CMPA.  However, there are many infants whose eczema and unsettled behaviour seemed to resolve as soon as they were treated as CMPA.

Which special milk helps this condition?  The best way to stop an an allergic reaction is to remove the allergen.  In order to reduce the allergenicity of the formula, CMPA milks have the proteins broken down to varying degrees.  While there are partially hydrolysed feeds available, an extensively hydrolysed feed (EHF) is recommended for a child with CMPA.  There are many EHFs available.

One pitfall in the prescribing of milks to children with CMPA is to confuse lactose free milk with EHF.  Another is to accidentally prescribe an amino acid formula, because these are also licenced for use in CMPA.  Amino acid formulas are only used for extreme cases of CMPA.  These feeds are quite unpleasant and rather expensive, so EHFs should be first line unless there is a specific reason to chose an amino acid feed.

Amino acid feeds (AAFs) are generally reserved for use in secondary care.  This type of milk is the ultimate in hypoallergenicity (real word?) but is also very expensive and rather unpleasant to taste.  AAFs are usually resorted to rather than being chosen first line.  Indications include severe IgE type allergy or non-IgE allergy that does not respond to an ECF.

One alternative to use first line is soy milk.  This may or may not be successful as a treatment strategy.  The problem with soy milk is that although it does not contain cow's milk protein, it is not in itself hypoallergenic.  Many infants who have reacted to cow's milk also react to soy milk so you end up no further forward when that happens.  There is some caution regarding the phyto-oestrogens that are found in soy milk.  Although it is an unproven risk, the concern is that these chemicals may have an effect on infants and so it is sometimes recommended that soy milk is not given to boys under the age of six months old.

Parents may also want to try other mammalian milks (e.g goat).  Most dietitians recommend that these are avoided due to the poor nutritional content.  Again, these milks are not hypoallergenic and there is significant risk of further reaction.

The most important part of managing non-IgE CMPA is that the diagnosis is a three part process.  First the diagnosis is suspected.  Then, is the infants symptoms settle with treatment the diagnosis is provisional.  Only when the infant is re-established on a standard formula and the symptoms return is the diagnosis confirmed.

When introducing an ECF, it is worth considering that the infant may object to the taste of the new milk.  Although nowhere near as unpalatable as an AAF, ECFs do have a distinctive taste difference from standard feeds.  A sudden switch can cause problems at feeding times.  One strategy to avoid this is to blend the new milk in over a few days.  If the infant is on a 6oz feed, use 5oz of standard feed mixed with 1oz of ECF on the first day.  On the second day, increase that to 2oz of ECF and 4oz of standard feed.  After a few days, the infant should be fully established on the new ECF feed.

The best way to avoid the problem of too much choice is to simplify things.  Find out a locally available ECF or check your local guideline/ formulary.  That way you only need to know one milk- choice doesn't get more simple than that.

Edward Snelson
Simplologist
@sailordoctor

Disclaimer - I frequently buy the wrong milk.

References:
Gastro-oesophageal reflux disease in children and young people: diagnosis and management
NICE guideline [NG1] January 2015

Edward is fundraising for the development of the Sheffield Children's Hospital Emergency Department.  If you found this post useful and would like to support that cause, this link will take you to the donations page.  GPpaedsTips is free to all and produced without expectation of any such donation, but if you don't ask...

Everything Wrong With Infantile Colic

One thing that I have enjoyed from time to time is a series of YouTube videos called "Everything wrong with..."   Here is an example of someone slickly dismantling the 1999 version of the film "The Mummy" which gives you an idea of how this works.  Egyoptologists will particularly enjoy this.

There are many things in paediatrics which lend themselves to a similar style of critique, none perhaps more than colic.  Infantile colic is diagnosed in countless numbers of babies every day.  Advice is given and treatments sometimes prescribed.  All of it is nonsense from start to finish, so here is my "Everything wrong with Infantile Colic."

1 - Colic is not a diagnosis

The commonly touted diagnostic criteria for colic is, "Infantile colic is a benign process in which an infant has paroxysms of inconsolable crying for more than three hours per day, more than three days per week, for longer than three weeks" (1)

What you have there is a definition of a lot of crying.  The implication that this excessive crying equals a diagnosis is utterly ridiculous.  Babies cry for all sorts of reasons.  Also, why is this particular pattern (3x3x3) of any significance compared to any other pattern?  What if the baby is crying for 2 hrs and 45 mins, 7 days per week for 2 weeks and 5 days?  Shall we tell the parent to come back in two days time and suggest that the child steps up to the plate because they're just not bringing their A-game?

If this was any other measurable value, we would be plotting it on a centile chart and monitoring the trend.  There is a reason that we don't have centile charts for the normal amount of crying in babies, and if you don't know what is normal, how can you define what is abnormal?

In any case, this is simply an impractical definition.  How much a child is crying and how much it seems like they are crying (to the parent) are likely to be two very different things.  Why have such a precise definition when the information given will be subjective?  I'm not suggesting that we do try to get precise figures, but maybe there is an app for that.


2 - Colic is not a pathology

Pathology is the study of the cause of disease.  Firstly, it is debatable as to whether colic is a disease, mainly because we don't know what it is.  Secondly, when we give a label of colic, we are saying that we have excluded pathology.  There are plenty of reasons why a baby might be crying excessively and these need to be considered.

Gastro-oesophageal reflux disease
Non-IgE allergy (usually CMPA)
Urinary tract infection
Non-accidental injury

Meningitis
Osteomyelitis
Hair tourniquet
Injury (accidental and non-accidental)

Many possibilities have been suggested as causes for infantile colic.  No specific cause has been found that would explain why some otherwise healthy babies seem to cry excessively in the first few weeks of life.  What that leaves us with is supposition.  It is often said that the crying is due to the sensations that a baby is experiencing in their abdomen.  Perhaps they are getting used to normal peristalsis of the bowel (which does not occur in utero).  Nobody knows.


3 - Colic is not treatable

As mentioned before, there have been several propositions made as to the pathology of colic.  None have been substantiated but that doesn't stop the door from having been opened to treatments being offered.  "It might be low-grade lactose intolerance..." - thus one of the popular colic treatments having lactase as the active ingredient.  "It might be bowel gas causing discomfort..." - thus another containing dimethicone.  I have no problems with a  process of hypothesis and experimentation.  This is how we get evidence for effective treatments.  What is then needed is good evidence that a treatment that might (in theory) work, is genuinely effective.  In my opinion, there is no good evidence that any effective treatments available for infantile colic.  Of all the patient groups where we should avoid the use of ineffective medication, surely this is top of the "don't do it" list?

Bear in mind that to prove efficacy in a condition such as colic, the method would have to be a large double blinded randomised controlled trial.  If not, the effect of the natural resolution of symptoms would make any treatment appear to be effective.  For example, if we suggested that the family plant some potatoes and that this will treat the colic, by the time the potatoes are ready to harvest, the condition will have resolved.  How impressed will they be?  D'ya know something?  I  think I might write a book and create a web page about that.  There's money to be made here.

While offering a treatment might seem both benign and helpful, I feel that it is neither of these things.  Previous treatments for colic have been withdrawn from use due to cardiac side effects.  A drug might be used for many years before the harmful effects are known.  Pessimistic possibilities aside, my main issue with any ineffective treatment is that it can make things harder for the parents.  When given a treatment (or suggested remedy), there is an expectation of symptom resolution which simply does not materialise.  This is psychologically quite hard for a parent who is likely to feel quite desperate.

Instead, I prefer to be honest and tell the parents the truth.

The last point in that list is most important.  Having a baby that cries a lot has a huge effect on parents and can potentially be a factor in parental mental health problems.  Also, the frustrations caused by a baby that cries and cries have been implicated in safeguarding cases.  While we can't take away the exhaustion or the stress, we do have the ability to absolve the parents of the feeling that they must always stop their baby from crying.  I tell parents that if the baby has been cleaned, clothed, fed and loved, then there are times when it is necessary to walk away and leave the child to cry.  If possible, family support should be made use of.  Well meaning relatives need to understand that colic is harmless to babies in the long term, but harmful to parents in the short term.

Edward Snelson
Potato therapist
@sailordoctor

Disclaimer - Potato therapy requires years of training.  Do not attempt to practice potato therapy without the appropriate qualifications.

Reference

1. Infantile Colic: Recognition and Treatment, Johnson J, Cocker K, DO; Chang E, Am Fam Physician. 2015 Oct 1;92(7):577-582

The Truth about Lactose Intolerance

Sometimes, when I'm checking my facts, I'm surprised to find conflicting information.  Sometimes this is because there are no facts and this information void is filled with opinion or speculation.   Sometimes there are myths that confuse the picture and sometimes the information is being interpreted differently by different people.  Lactose intolerance in children is one paediatric condition that is described very differently in various places.  So what is the truth of it?

Let's start with the basics.  Lactose Intolerance (LI) and Cow's Milk Protein Allergy (CMPA) are very different problems but are often confused with each other.  The simple difference is that you can't be allergic to a sugar.  In CMPA there are two different types of immune response possible.  The one that usually gets confused with LI is the non-IgE CMPA because it causes similarly vague and non-specific symptoms.

Lactose intolerance is essentially a budgeting problem.  Breast milk and formula milk contain the sugar lactose.  This provides ready energy and makes the milk taste nice.  To break down lactose, you need an amount of lactase which is proportionate to the amount of milk you consume.  This lactase comes from two sources.  Breast milk contains some lactase, but the majority of lactase that is required is produced in the villi of the small bowel.  

The maths is simple.  If you have enough lactase to deal with the lactose that you consume, all is well.  If you don't, then undigested lactase passes through to the large bowel.  In the colon, bacteria ferment the sugar- causing diarrhoea, abdominal pain and bloating.  (Interestingly, this is also how lactulose works, despite what you may have been told - details about that here)

How lactose intolerance works is well established.  What is far more unclear is how common it is in children and what the underlying cause is when it is present.  In order to understand all of that, it's worth knowing the evolutionary history of lactose intolerance.  Since man has only been farming animals for the past few thousand years, the need to digest lactose into adulthood is a relatively recent phenomenon.  The default physiological norm was for lactase production to diminish and stop after infancy.  Most people now have a lactase persistence gene which allows the small bowel to continue to produce lactase.

There are three types of Lactose Intolerance (1)

1- Primary hypolactasia

This is caused by the absence of the gene that causes ongoing lactase production.  When lactase production wanes, symptoms will come on gradually.

2 - Secondary hypolactasia

This is caused by damage to the small bowel.  In many cases this is the result of a gastroenteritis infection.  Secondary hypolactasia can also be the result of damage caused by non-IgE food allergies.  There is nothing inherently wrong with the child's ability to make lactase, but the small bowel wall that does that has been stripped.  The symptoms of secondary hypolactasia resolve when the damage to the small bowel is repaired.  In the case of post gastroenteritis LI, a few weeks lactose free will help that considerably.

3 - Primary congenital alactasia

This is an autosomal recessive genetic defect resulting in the complete absence of lactase production.  This is extremely rare and according to the experts, there have been less than 100 case reported worldwide. (2)

So here's my problem - sometimes, none of the three known entities fit.  I see lots of parents who report symptoms which are being associated with the child's (usually formula) feed.  They are then absolutely convinced that a lactose free formula has suddenly resolved their infant's problem.  Discuss...

Of course the type of lactose intolerance only matters in terms of deciding whether the child will need long term or short term avoidance.  Secondary hypolactasia should resolve, leaving the child able to resume business as usual once the damaged small intestine has repaired itself.  In general terms, the treatment for LI is the same - remove lactose from the diet.  Nevertheless, the fact that children seem to fit the bill for lactose intolerance without fitting any of the known entities is perplexing.

(Screenshot taken from Wikipaedia on 27/06/2017)

One possible explanation for this is that these children do not have lactose intolerance at all.  Instead the diagnosis has been suspected based on non-specific symptoms, and the resolution of these symptoms following the start of a lactose free milk was coincidence.

As well as the children who have no pathology, there is the group who are labelled as lactose intolerant when what is really wrong with them is something else such as reflux disease (GORD) or Cow's Milk Protein Allergy (CMPA).  Wouldn't it be nice to be able to be sure which condition was affecting the child?

There are tests available for lactose intolerance but they are not readily available in primary care, whereas a therapeutic trial is always a tempting option. The tests used in secondary care seem to vary around the world.  Hydrogen breath testing is a pain free way of testing but impractical  in infants making it unhelpful in most cases.  A lactose tolerance test involves giving a large dose of lactose and then doing serial blood glucose measurements.  A lactose challenge does the same but relies on the witnessing of symptoms following the administration of lactose to the child.

In the UK, the vast majority of LI diagnoses are made on clinical suspicion and treated by an exclusion diet.  The difficulty with this is the risk of overdiagnosis when using this strategy.  Symptoms often change with time and so any apparent improvement following an exclusion of lactose from the diet should probably be challenged in every case.

So what is the truth about Lactose Intolerance?  Is is frequently being diagnosed in contradiction of sound medical understanding of the condition?  Is there a significant number of infants who don't fit into the three categories described above but still have genuine LI?

I think that the presumption should be that a baby who has significant symptoms (other than the classic LI symptoms following a gastroenteritis) should have another explanation sought.  They may have GORD or CMPA but it doesn't make sense that they should have lactose intolerance unless there is a form of this condition that is as yet not understood or well described.

Edward Snelson
Congenitally Tolerant Clinician
@sailordoctor

Hot tip - if a lactose intolerant baby is breast fed, there is no point in excluding milk from the mother's diet in an attempt to resolve this.  Breast milk produces its own lactose.  If the diagnosis is convincing, try supplementing the lactase.  If you want to know where to find it, lactase is the 'active ingredient' in some colic treatments.  It doesn't actually treat colic but that is another story.  At least it has a use here.

References

1. Heyman B et al, Lactose Intolerance in Infants, Children, and Adolescents, Pediatrics, Vol 118, Number 3, p 1279-1286, September 2006
2. Deng, Y et al, Lactose Intolerance in Adults: Biological Mechanism and Dietary Management, Nutrients. 2015 Sep; 7(9): 8020–8035.

The Random Goldfish - When confirmation bias met affective bias

In the previous post, I explored how confirmation bias can lead us to believe that something is causing a problem when really it isn't.  Although sometimes unexpected, this kind of news is not unwelcome.  Finding out that fever doesn't really cause febrile convulsions is a surprise to many, but usually a good one.  Telling people that their treatments don't work is much less popular.

Anyone who has been a clinician for a reasonable amount of time knows what it feels like to share good and bad news with someone.  When I am teaching about paediatrics in primary care, it sometimes feels like I am saying that very few treatments actually work.  This feels having something taken away form us.  The real headline is that children make themselves better in the vast majority of clinical scenarios.  It is our job as clinicians to do as much nothing as possible while looking for opportunities to give effective treatments.

One question that I am often asked is, "If these treatments don't work, why do people use them?" Good question.  I tend to assume that my sample cohort of co-workers is representative of clinicians and I work with good, conscientious people who want to give children the best treatment possible. Since I don't believe that clinicians are generally unintelligent, malicious or lazy, I will take a risk and say that there must be powerful forces at work if any of us are giving ineffective medicines to children.  The problem that leads us all to use ineffective treatments is our very desire to make children better and parents happy.

If you want something really badly and do something in an attempt to make it come about, when the thing happens, we are likely to believe that this was cause and effect.  This approach would work in a fixed environment,  For example, consider a person trying to solve a puzzle (like a Rubik's Cube).  The puzzle isn't going to solve itself, so if the person tries many different strategies and then something works, they have solved the puzzle.  This assumes that the puzzle has not been solved by chance, which in this case is extremely unlikely.

Now consider someone with a different problem.  He wants a picture of his goldfish next to the castle in the goldfish bowl.  He tries shining a light to get the goldfish to move into position.  He tries tapping the glass, placing some food and tries making waves in the tank.  Whatever he does just before the goldfish moves into position must have done the trick right?  Wrong.

Well, much of paediatrics is like that.  Childhood symptoms often fluctuate or resolve.  We want our treatments to work.  We want to make children better and parents to be happy.  These factors are the perfect ingredients for us to wrongly believe that what we did worked.  Sometimes though, the goldfish just moves.  Because it's a goldfish.

Enough about goldfish. Let's use a really common example of how confirmation bias leads us and our patients to believe in an effect that is not real.

If I tell someone that antibiotics will cure a child's throat infection within a week, you can imagine how that sounds plausible.  Then, the initial belief in my statement will be reinforced when the child does indeed get better.  The true believer does not consider that the alternative is just as plausible - that all (uncomplicated) throat infections get better with time.  You know that guy who still has the viral sore throat he caught when he was two years old?  No?  Neither do I.

Paediatrics is a branch of medicine where most illnesses will resolve with time and many symptoms that could be attributed to a treatable cause.  But we and the parents both want the problem to be treatable.  The problem is, you're too nice.  You want to help and you want everyone to leave happy. This is called affective bias (the thing that reinforces confirmation bias). The end result is that we can easily believe that we are treating a problem, when in fact it gets better on its own.

Now, bias gets a bad name in medicine, but I would like to defend bias.  Clinicians could never learn or make decisions without bias.  We would be permanently uncertain and unable to choose. Without confirmation bias, we would never notice a pattern.  Without affective bias we would never take the parents seriously or care about the child.

Bias is good.  There, I've said it.

Bias is your friend, but friends can be fickle.  The thing about friends is that despite their faults, they're still your friends.  It is good to know what to expect from them.  That way, you don't feel surprised when they do the thing that they always do.  In the case of bias, your friend wants to mislead you and get you do do things you shouldn't do.

So, what are the best examples of the confirmation bias of presumed effect in paediatrics?  I've already mentioned antibiotics for upper respiratory tract infection.  There are many more, but lets just look at one in detail as an example:

Confirmation bias (presumed effect) - 
Example number 2: Treatments for gastro-oesophageal reflux disease in infants

If there was ever a paediatric condition that fitted the brief for this subject, it is feeding problems in babies.  The symptoms that babies present with are so often simply withing normal limits for infancy.   Did you know that straining is a thing that 1 in 6 babies do and that it is called dyschezia, not constipation?  If you add regurgitation of milk (aka 'reflux'), colic and other common gastrointestinal complaints, most babies have some sort of symptom that we could treat if we chose to during the first few months of life.  With a few exceptions, these are normal for being a baby, and will resolve in time.

The cardinal sign of a self resolving problem is that there are treatments available without good evidence of efficacy.  (Cough medicines for children are a good example of this.)  By way of contrast, there are very few treatment strategies for the management of pneumonia.  I'm guessing that you probably use antibiotics.

The evidence for the available treatments for reflux disease is not good.  In many cases the evidence is that they have little effect.  Rather than posting several dozen references, I am simply going to signpost you to the NICE guideline for Gastro-oesophageal reflux disease in children and young people. (1)  In the full document there is an extensive literature review which makes for interesting reading.  The bottom line is that the evidence is usually lacking.  The evidence that we do have form research points toward little or no effect for alginates, H2 agonists and PPIs.  By their own admission, much of the advice in the guideline depends on the experience of the experts involved in the guideline writing process.

Of course the problem is that there are infants with genuine pathology.  These children often begin their visits to healthcare professionals with non-specific presentations which easily fit the bill for what is 'normal for infancy'.  If we are honest with ourselves, the niggling doubt that the child might have a significant problem is one of the factors that pushes us in the direction of pulling out our prescription pads.  After all, it won't look as bad when the child turns out to have a problem later if we were busy trying treatments instead of reassuring the parent that these symptoms are usually part of normal infancy.

Avoiding unnecessary treatments is gold standard care.  Alginates are the most frequently used medications for reflux symptoms but in my experience this treatment runs a high risk of causing constipation.  This is far from ideal if you are trying to make life easier for baby and parent alike.   Motility drugs have repeatedly been associated with dangerous cardiac side effects and PPIs have been shown to increase the risk of respiratory tract infection. (2)  The take home message from this is that, although medication is an option, we need to be sure that a treatment is really likely to be better than watchful waiting.

The NICE guidelines focus on consideration of how the infant is affected - severe distress or red flags (faltering growth, feed refusal etc.).  It is also important to consider other possible diagnoses such as UTI.

I said that there were quite a few problems that have a similar story.  Going through all of them in detail would take a long time, but here is a list of some of the treatments that lend themselves to this combined bias effect:

The evidence for all of these treatments in children is that they work rarely (antibiotics for URTI, inhalers for cough alone, suspected CMPA based on colic alone) or never (cough syrups, simethicone or lactase for colic in babies).  All of these clinical scenarios share a common theme- the likelihood that the symptom will resolve in time.

So lets come back to bias.  Confirmation bias will cause us to believe that a treatment is effective while affective bias will make us want to give something even when there is little or no benefit. "But earlier, you said that bias is good.  You said that bias is my friend!" you might well say.  I stand by that.  As long as you know how you expect your friends to behave, any misbehavior can be managed and they can still be your friends.

For confirmation bias, we need to have good evidence to justify treatment that is used for symptoms when the natural course is resolution with time.  For example, I don't need evidence to back up my belief that morphine works for pain when a child has a broken leg.  If the child feels less pain afterwards, it has nothing to do with a goldfish effect.  Conversely, I should want evidence that a treatment is effective for any of the symptoms listed above.

For affective bias, we need to harness our desire to be nice to parents and children.  That means not wasting their time with ineffective treatments or worse still causing new problems. Sometimes, doing nothing is the nicest thing that you can do.  Managing to treat where appropriate and avoid unnecessary treatment is the holy grail of paediatrics.  Ultimately, the child is the patient and we need to only give them medication that is more likely to help than harm.  At least, that's what we should be trying to do despite our biases.

Edward Snelson
Amateur Medical Errorist
@sailordoctor

Disclaimer - I am too biased to be taken seriously, even by myself.

References

1. NG1 - Guideline for Gastro-oesophageal reflux disease in children and young people, NICE
2. Orenstein et al., Multicenter, double-blind, randomized, placebo-controlled trial assessing the efficacy and safety of proton pump inhibitor lansoprazole in infants with symptoms of gastroesophageal reflux disease, J Pediatr. 2009 Apr;154(4):514-520

Your New Year's Resolution - Undiagnose a Child This Year

If you’re wondering what to do for your New Year’s resolution, don’t give something up or join a gym.  Neither will work out anyway.  This year, do something truly worthwhile - promise yourself that you will undiagnose a child or three.

Paediatrics is particularly prone to the pitfalls of overdiagnosis and overtreatment.  Although this is a problem, the reasons for overdiagnosis are actually good ones:

• The tendency for symptoms to resolve with time (e.g. vomiting and crying in infancy)
• In childhood there is usually an illness that can’t be treated which mimics those that should be taken more seriously (e.g. viral urticaria leading to overdiagnosis of antibiotic allergy)

When there are no good tests available to tell between two possibilities, we sometimes give a therapeutic trial to help answer the question.  That is a strategy which will lead to misdiagnosis if symptoms improve despite our treatment rather than because of it.

With therapeutic trials, it is often best to challenge the assumption that it was the treatment that worked.   The two best examples that I can think of are childhood asthma and cow’s milk protein allergy in infants.

Let me give you a case to illustrate what I mean:

A 3 month old has been treated unsuccessfully for symptoms of gastro-oesophageal reflux disease (GORD).  A clinician suspects non-IgE Cow’s Milk Protein Allergy (CMPA) because first and second line treatment for GORD has been unsuccessful and because they notice that the baby has quite significant eczema.  (Click here to see a guide to diagnosing feeding problems in this age group)  The clinician decides to trial an extensively hydrolysed feed.  Over the next few weeks, the child’s symptoms of being unsettled and bringing back feeds improve considerably.  The eczema is responding to topical treatment.

In this situation, it is easy to assume that the change of milk was what made the difference.  Often, this is simply confirmation bias.  Colic, reflux and other symptoms of infancy have a tendency to self-resolve.  Of course the treatment may have been what worked but at this point in time, we genuinely have no idea.

This is the time to stop the hydrolysed formula and reintroduce a standard formula.  (Only do this for Non-IgE CMPA.  IgE CMPA is the kind that has urticaria and wheeze etc.  The children with this type of allergy need to be referred to an allergoligist.)   If the original symptoms of being unsettled and vomiting lots return in the next couple of weeks, the diagnosis is now more robust.  If the child remains well despite a return to standard formula, you have undiagnosed a thing.  Marvellous.

The second clinical scenario is the 7 year old with a nuisance cough.  The cough has been there for somewhere around 2-3 months.   There are no associated symptoms such as wheeze or altered exercise tolerance, but the cough is waking the family up at night.  The chest is clear on examination.

So, what is the likely diagnosis?  Surprisingly, in research land, coughs like this turn out to be caused by pertussis infection more often than asthma or reflux disease. (1,2)  It seems that although the pertussis vaccination is successful, infection is still relatively common.  Instead of causing a more significant respiratory illness, what we see in vaccinated children is often just the cough that lasts 100 days.  There are other, similarly benign reasons for chronic cough in children.  Also, there are plenty of significant pathological causes of chronic cough that are not asthma.

Diagnosing ‘cough variant asthma’ is possibly the biggest reason for the current debate about overdiagnosis of asthma in children, fuelled by an article in the BJGP earlier this year. (3)   Many children in the UK are prescribed inhaled steroids for chronic cough symptoms.  If they get better, this is taken as evidence that they had asthma, but there are other possible reasons for this resolution of symptoms.  The evidence suggests that the most likely thing is that the cough has resolved with time rather than with treatment.

This is therefore another opportunity to undiagnose a thing.  As well as stopping inhaled steroids after (Snelson makes up a number quickly…) three months it is probably a good idea to get some sort of objective assessment before, during and after the therapeutic trial.  Peak flows are great if you can get the child to do these well.  In many cases a symptom score (4) is more achievable.  If the only complaint was cough, then a symptom diary is all that is required.

If when you stop the steroids, the child’s cough is still resolved, you have a winner.  Your New Year's resolution is fulfilled.  Of course, once you start, undiagnosing an become a bit addictive.  If you find it becomes a problem, why not join a gym instead?

Edward Snelson
Diagnosectomist
@sailordoctor

Disclaimer: My New Year's resolution is to get a better disclaimer.

References:

1. Marchmont et al, Evaluation and Outcome of Young Children With Chronic Cough, Chest Journal, May 2006, Vol 129, No. 5
2. Wang et al, Whooping cough in school age children presenting with persistent cough in UK primary care after introduction of the preschool pertussis booster vaccination: prospective cohort study, BMJ, 2014;348:g3668
3. Looijmans-van den Akker et Al, Overdiagnosis of asthma in children in primary care: a retrospective analysis, BJGP, 1 March 2016
4. Asthma.com, Child Asthma Control Test