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It's a pleasure to be here everyone. Um It's great to see so many of you joining us this evening for the talk. And so as I said, we're going to be thinking about the newborn examination this evening and the learning objectives that were identified on the the topic page here, I won't read them out as I'm sure you probably read them. But overall to give you a bit of an understanding of where the newborn exam fits in terms of newborn screening and then also make sure you're comfortable with some of the most common and some rare signs that we find in babies. So the way we're going to do this, um we're gonna think about the newborn screening program, we'll then spend most of the session uh going through potential findings and then just have a slide in the end about some red flag signs about babies. It's framed in a sense to think about the 6 to 8 week baby check that GPS are responsible for performing. But actually, a lot of these findings will be relevant with whatever age the baby presents. And hopefully some of these will be picked up before the six week check. So, UK newborn screening program. So this form part of the wider screening program that you'll be familiar with in terms of breast cancer screening, cervical cancer screening, and the newborn part of that is can be seen as kind of an extension of the antenatal screening that occurs in terms of the fetal anomaly scan and the infectious disease testing for during the pregnancy. Um There's some key outcomes from the newborn aspect of that and that relates primarily to the eyes, the heart, the hips and the testes. Um the components of the newborn part is the examination which we're going to be focusing on as well as the hearing screen and the blood spot test that I'll also briefly touch on. It is just worth bearing in mind that parents can decline any or all of these components. Although in my experience, that is pretty rare, I've rarely come across parents that don't partake in the screening program. Um So the newborn hearing screen is part of this, that is aiming to pick up moderate to severe bilateral hearing loss and that occurs in a reasonable number of babies, 1 to 2 per 1000. So for a standard size hospital, that might be anywhere between 5 to 10 babies a year and for babies admitted on a neonatal unit for more than 48 hours, the risk of a hearing impairment increases to one in 100. Um So they are classed as high risk babies. The standard test used as part of the newborn hearing is the automated auto atic emissions test which basically fires the sound off into the air, detects the sound waves coming back from the cochlear hair cells. And by some very clever technology can work if everything's working as it should for higher risk babies or those babies that fail the standard test, they will also undergo a more specialist test, which is the AAB br. So the AAB R, the automated auditory brainstem response with basically a little mini E eg and ah plays sound and then it it is detecting the signals in the brain. So that will be what higher risk babies have. Some babies will skip the screening and go direct to audiology. They're typically the babies in this top group here. So micro shear or ear canal deformities, babies with congenital CMV, those have been diagnosed with bacterial meningitis or those that have had hydrocephalus us with the VP shant in situ and there's a range of other babies that will have the screening but still be referred to audiology that you can see in this list here. And these are just basically higher risk babies that we want to do more formal testing on the newborn blood spot test is done on day five of life in the UK. That's testing for nine conditions that are listed here. Some of them are far more common than others. Um Cystic fibrosis, sickle cell disease. Probably the most common hypothyroidism is important to pick up early in particular. But I just put a note there that it only detects, it doesn't detect central causes of hypothyroidism because what's that picking up is a high TSH level. So if your central components aren't working with creating the TSH, you're not going to pick those up. And it is worth noting that some countries do test for a lot more conditions, but those conditions as yet haven't triggered the requirements, the national screening program to be kind of funded on the newborn blood spot test. So in large proportions of the country affecting around two thirds of the country is testing for severe combined immunodeficiency. So skipped that trial started in 2021 and is due to complete this year. Um They have detected a lot of babies with S ID, but the testing has been more complex and the pick up rate perhaps wasn't as high as expected. And so we're still waiting on the full report to hear whether SD will be rolled out nationally. The other interesting one is the generation project which is testing whole genome sequencing in newborns. So the generation study, there's a link here at the bottom where you can read more about it if you're interested. But they're basically planning to sequence the whole genomes of 100,000 newborns to see if they are up babies with genetic disorders before they present clinically. So, yeah, generation study. Very interesting dinner party conversation. Do have a look at that website and lots of ethical and interesting discussions around that, but that may well be something of the future. So thinking about the nine piece of the newborn physical examination, the initial examination is performed within 72 hours of birth and that's done by either a specially trained midwife or a pediatrician. It's not necessarily a pediatrician, it could just be a member of the pediatric team. So a junior doctor that is working within that team, it's not necessarily a very experienced pediatrician, but they obviously have pediatric support if needed. And as I alluded to earlier, the key components which actually trigger the screening program are of the eyes, heart hips and the testicles. And then there's a further check as you're probably all aware at 6 to 8 weeks with the GP. And some people ask why, what is the point of repeating it? There's a few reasons, one certain things that we find can normalize. So unilateral undescended testing, we give time for that to normalize things may present which weren't there at birth such as an infantile hemangioma, they might be just things that have been missed. You know, we're all human things are missed. Sometimes the cleft ballot main a rectal malformation. And therefore, it's important that we repeat that um when you're seeing the baby at 6 to 8 weeks, don't forget to review the outcomes of that initial check there might be specific things asked of you to check the progress of, you can review the pregnancy and family history and have a general check on the baby's progress. So they're feeding number of wet nappies and dirty nappies and look at their growth chart. Good chance to check in with the parents if they have any particular worries and a really good chance for some health promotion as well in terms of promoting immunizations, safe sleeping advice. And I'm sure many of you have seen the lullaby trust website before, but it is an absolutely excellent website for parents to look at in terms of safe sleeping advice. Here again, are just some links to some further resources that you might want to look at after the session. So there's the government handbook, a nice BMJ article summarizing the newborn exam as well as an ele for healthcare ele package if you wanted to complement your learning for this evening. Now, the way we're going to approach it today, we're going to be starting off by thinking about some general aspects of the examination and then go through a top to toe examination and thinking about all the systems and things that you might find some fairly common, some completely normal, others are a bit rarer and significant and how you refer it now. Although that's how we're going to approach it today in real life, this is probably how you need to examine a baby. You need to be opportunistic as they say, never work with animals or Children. So when you're dealing with babies, they're not going to be compliant with you, they're going to be crying, they're going to be upset. So you'd be opportunistic with your examination. If, when they're coming in, they're sleeping, they're quiet, just have a listen to the heart before they start screaming and do the things you can whilst you can essentially same. We're going to start with a general examination as we would with all patients. And like all patients, you can tell a lot from just looking at them. So you'll get a sense of their alertness. Are they sleeping and nice and awake? Nice and alert or drowsy, their overall color. Whether there's any obvious rashes or birth marks, you get a sense of if they're macrosomic. So babies born to mums with diabetes can have be quite chubby and have a very specific look about themselves. They might be I UI they might be growth restricted and look a bit cachectic or you might notice some obvious dysmorphism. Have a look at their tone. You can tell a lot from a baby's neurology just by looking at them, their resting tone, but also their movements. Are they moving symmetrically with nice kind of random but smooth movements or are they really jerky or unilateral and obviously their respiratory rate and whether they're in any respiratory distress? Um And I put this bit here about trusting your instincts. You know, people who are health professionals, we've all been trained to judge whether someone looks well or unwell and that's no different for babies. If your gut feeling is telling you that something's not quite right. There's probably something behind that and don't underestimate the parents judgment. That kind of mother's instinct for want of a better term that gut feeling parents have about their babies, they spend all their time with their babies. So if they're saying something's not quite right, that's very worth paying attention to when we're looking at color. Ah jaundice is obviously really common in babies. And there's a really important note here about being aware of the impact of skin color on assessment. We know that there's massive health inequalities and we know that babies with darker skin tones are probably getting delayed treatment in certain things in particular jaundice. So always be looking at the sclera, the whites of the eyes, you can look at the palms and the soles of the feet as well, which will give a better indication we're looking for pallor. So are they pale and potentially anemic or plethoric? So, having polycythemia, are they cyanotic or is their mo So this is just an example of a plethoric infant. On the right hand side here, these are a set of twins with twin anemia polycythemia sequence, which is part of the spectrum of twin to twin transfusion syndrome where one twin gets lots of blood cells and the other, not so much. And you get this discordant appearance where one twin is really plethoric and red and the other has pallor. So relatively anemic plethora is not uncommon in babies, babies have high red blood cell counts than you and I do, but some can overshoot for want of a better term. And in some instances, particularly young babies in the first couple of days of life, they're profoundly polycythemic that can affect their feeding and make them unwell. They might have pax cell volumes over 70%. Modeling is obviously a sign of shock. Babies have this thing to confuse us called cutis marmorata, which is pictured here. I'm sure many of you have seen it before where it basically has the appearance of mottling this very fine lacey appearance, but it is actually just a normal variant and it typically occurs when the baby's on the cooler side. I mean, the parents will describe that the skin often looks like that but also a baby with mottling, they're going to be unwell. In other regards, they're going to be tachycardic, tachypneic and have other signs. There's also a genetic condition called cutis marmorata. Te inject a congenital which has a similar appearance but is present all of the time cyanosis. So caused by low saturations. They have this kind of bluish gray discoloration. Obviously, the baby on the left of the screen here is profoundly cyanotic. You can see that quite markedly the baby on the right, you can see in particular some perioral cyanosis and obviously, if you're worried about the sats or the color um sinos or the color, just check the oxygen saturations, just a couple of side notes on that. So, acrocyanosis is not uncommon in the 1st 48 hours of life. That's where you kind of get bluish discoloration at the periphery. So in the hands and the feet, it can come back if they're a bit older, if they're on the cold side and facial congestion, pictured here, if there's been perhaps a slightly prolonged labor and the baby's been stuck in a slightly unusual position and there's been lots of pressure on their head. It can basically kind of cut off the venous return and cause kind of quite widespread bruising on the face which we call facial congestion, that is obviously has quite a dramatic appearance as pictured here, but it will be clearly delineated from the neck up. Now, neurological assessment. So the formal neurological exam is a skill and it takes experience. There are formalized assessment tools, but you're not going to be expected to do those. But you can, as I've already alluded to gain a lot from just observation and assessment of the tone. Um and it's worth bearing in mind that focal neurological signs are pretty rare in babies. Even babies that may have had a perinatal stroke and have a significant unilateral lesion in their brain probably won't start showing, ah, focal signs until at least a few months of life. So, here's some pictures of tone. So the baby on the left here, this is normal tone. You can see that they're nicely flexed. Their knees are brought up to their tummy, their arms are flexed and they have that nice posture and those limbs would be moving if it was a video, compare that to the babies on the right. These babies have hypotonia. So what we term a frog leg posture. So you can see at rest, the legs are kind of flat down on the bed. They're not nicely flexed, they haven't been able to bring those up to the abdomen and the baby at the top is moving their arms, they will have movement. But you see that it's generally their limbs are kind of held down on, on the surface. You can then pick this baby up and get a sense of their tone of handling and we call this ventral suspension when you kind of hold them in your hand like that. And babies are really strong, they're much stronger than we give them credit for. So even a newborn baby should be able to hold their back straight for periods and even be able to bring their neck up to have a quick look around when you compare that with a baby on the right hand side, which is what has what we call a ragdoll posture where they kind of limbs are hanging down. You can see that curvature in their spine and that name comes from the old kind of red dolls that are very floppy and just a note on. So head lags are an obvious sign of decreased tone in older Children. It's worth bearing in mind that the degree of head lag is normal in a newborn. But if you have a newborn baby, they will have head lag if you pull them up. But once you get them into a sitting position with a little bit of wriggling and movement, they should be able to kind of bring their head around to the front and have a bit of movement in their neck. Whereas a hypotonic baby will not be able to do that and the head will stay backwards. There's also some primitive reflexes and primitive reflexes are very evolutionary speaking, very old kind of brain stem reflexes that have kind of survival purposes and in babies, they are present and they typically disappear or the fancy term is integrate mostly by around six months. They do vary a little bit. The importance of these in assessment, in particular, in older Children, if they still have their primitive reflexes that can show signs of potentially a neurological disorder, or if the primitive reflexes are asymmetrical, might be suggestive of an underlying brain lesion or a peripheral lesion as well. So the Moro reflex is probably the most famous. So you support the baby you let them fall backwards a little bit and they have this extension and then flexion recovery maneuver. So they'll be sitting like that, you drop them back, they put their arms out and then they kind of bring them back in if that's kind of unilateral or, or very exaggerated or absent. These are all subtle markers that there might be something wrong and it's just a little pedantic point that the M is different to a startle reflex. Some people use those terms interchangeably a startle reflex from a loud bang or something. The baby will still do that as with any of us when we're startled, but that is not a primitive reflex. And the A TNR, the asymmetric tonic neck reflex is another one. It's also called the fencing reflex because of the position that the baby takes here. And that's elicited by turning the baby's head to one side. And that causes an extension of that arm and a flexion of the contralateral leg. I'm not sure the evolutionary advantage of that may be to stop them rolling off things but is well described. There are various others rooting. So you rub on the cheek, they'll try and latch onto your finger. Obviously, the sucking reflex step in where you hold the baby and touch their feet on the surface and they kind of make stepping motions, grasp and planter. If you put something in their palm, they'll kind of grab down on you and the tonic labyrinthine reflex, which I've never seen used clinically is when you hold them prone and depending on how you position the head, it controls the arms and things. Again, I'm not particularly sure that's hugely clinically relevant, but you will see it described in the literature overall. If you're concerned about a baby's tone on neurology, they need to be seen by a pediatrician. Obviously, if they're very young and profoundly hypotonic or generally unwell, they need to go to the pediatric emergency department as a matter of urgency. If they're a bit older and they're a bit more subtle, you might get away with a kind of urgent outpatient appointment if they're a bit older and you're worried about their development more generally. Then I'd suggest referring to community pediatrics. Community pediatricians are the specialists in child development and will be able to undertake the necessary assessments. And again, here are some resources for you to have a look at um some nice examples and a further explanation about the neurological examination of the baby. There's also some nice guidance and then the bottom link there that don't forget the bubbles website, really good resource for all things pediatrics. But that's just going through the kind of approach that we would take in secondary care in our assessment of a floppy baby. So we're going to start thinking about some birth marks and rashes. And so the first one here is aplasia cutis. Um So as the name suggests, this is an abnormal development of the layers of the skin. It most typically affects the scalp but can occur anywhere and it can be variable in size and depth. So here's just a couple of pictures of aplasia, cutis. You can refer these babies to dermatology for further man erythema toxicum. Baby acne is very, very common and it is completely normal. It's typified by these kind of erythematous blotches and occasionally some papules as well. Um It's felt to be just kind of a reactionary dermatitis from the baby being exposed to the big wide world and typically occurs from the first couple of days of life and will maybe last a week or two, but it is completely harmless and will go away. Another common and normal variant is pustular melanosis more common in babies from black or Asian heritage. It's typified by as the name suggests pustular. So pustules, you see these little pustules on the skin and melanosis are typically on a background of a darker patch. So areas of increased melanin. Um so this pustules on a dark background appearance is pustule melanosis. And again, it is normal, it can be quite striking, but it is benign milia, again, quite common and normal, they're called milk spots because of their white appearance. Typically on the face around the nose or the eyes, they're just little mucocutaneous fatty deposits under the skin. Again, normal variant and nothing to worry about another normal one is has various names depending on where you look at a stalk, mark a salmon patch or a neva simplex. And this is this kind of very superficial capillary malformation that leads to this reddish pink appearance. Most typically occurs between the eyes or on the back of the neck. And you may find that when the baby is really upset and crying, it gets much redder and can sometimes fade away to nothing. Once they're settled, it can last for a little while but will ultimately fade away. One of the most common one is congenital, dermal melanocytosis. The fancy name for the blue spot, you will see the term kind of Mongolian blue spot around, but we're generally moving away from referring them to as that. It's not the most progressive name. So blue spots is an easy one to use. Again, more common in babies from black and Asian backgrounds but can occur on any baby. And it's this very kind of distinctive dark, almost gray blue patch again, typically on the back or over the buttocks, but again, can occur anywhere. They can be quite large and prominent and it is useful to document their presence because at first glance, they can look a bit like a bruise and it just if babies are coming into A&E when they're a few weeks old or even later, and there's all of these marks on their body and there's safeguarding concerns, it can be helpful to know that they were present at birth. So even though they're really common, it is always worth just noting their presence because that can be helpful later down the line. Now, hemangioma are not uncommon and just again, slightly pedantic point. But I'm a neonatologist and we're all pedants. There is a difference between a congenital hemangioma and an infantile hemangioma. They're both due to abnormal vascular development and medical and surgical treatment do exist. So medical propranolol can be used to reduce their size and there's various laser and obviously plastic surgery interventions if needed. Um So a congenital hemangioma by the name, they're present at birth, they usually have a red purple appearance with teleta and there's a couple pictured here, some will involute, some will go away within the first two years of life, but others will continue to grow in proportion with the child. And as I said, refer to because there are treatments that can be initiated, compare that with an infantile hemangioma that typically termed a strawberry nevus. The exact appearance will depend on the depth within the skin layer. But typically there are these quite superficial, bright red lesions that you can see and they typically, they can be present at birth, but most commonly they're not and they start to appear over the first few weeks and months of life and typically continue to grow up until about the age of 12 months. They will then start to get smaller and they can take time to go away. But if you look in the literature, 90% of them would have disappeared by nine years of age, they will potentially leave a slight white mark where they once were, that generally will go away. Again, you can refer to dermatology if they're very large or in a concerning area. So around the eyelids or the mouth or generally on the face, et cetera, that might have functional or significant cosmetic impact. Now compare that with a port wine stain, what's termed a nevus flamers. So these are present from birth and they persist for life, they won't fade away. And most notably about port wine stains is that they can be associated with certain syndromes and other abnormalities. So classically stirred T or Klippel Renoni syndromes. So, sturge vima typically on the face can be associated with glaucoma and intracranial lesions as well. So these babies need an MRI. So again, refer to dermatology for those assessments to be undertaken cafe au Lait spot. So that term just means coffee with milk in French, which it gives an indication to their color. So this kind of light brown color, they can again be present at birth or develop later. And there are these kind of light brown macules that appear on the skin, they can be significant. So if they're very large or in multiple places, six or more, then there's an increased association with an underlying condition such as neurofibromatosis one. So if you spot one have a good look to check anywhere else. And if there's more than six, again, refer them on for further assessment. Melanocytic nevi can be highly variable in location and size. These are darker than cafe spots caused by increased melanin. They can be raised and have Tufts of hair as pictured here and as pictured on this bottom image, they can be very large and take up considerable areas of the skin which obviously has longer term impacts for that person. Um But cosmetic treatments do exist for them. So if they're particularly significant or concerning, then again, refer to dermatology for their assessment just to compare it with something that won't last, but it is important to notice petechial rashes. So petechia, so non blanching, little red spots on the skin and they can be seen after delivery in particular in the upper body and in pressure areas that might provoke some PTA. Um But if you do spot them, especially in primary care, they do, the baby does need to be referred in for testing. Obviously, ti non blanching rashes can be a sign of significant bacterial infections, but there's a whole myriad of causes of thrombocytopenia in babies. There might be immune conditions. In particular, if the mum has had autoimmune thrombocytopenia or gestation induced thrombocytopenia, antibody mediated causes can pass to the baby and cause thrombocytopenia in the baby. You would hope that that would have been picked up around the time of birth and we would generally have the baby. We do an FBC on the baby. Things get missed. So if and up get them seen. Um Again, I'm referring to this, don't forget the bubbles website, which has a lot of other examples and some other conditions that I've not touched on, affecting neonates for your interest, just a few points on dysmorphism. So, dysmorphic infants, so the breakdown of that is impaired form. So when things haven't developed and grown as they should, and again, like most things in this talk, it's a huge topic and I could spend all evening just talking about it. I just want to highlight a few common things and make some general points. One is you don't consider dysmorphic features in isolation you want to consider, are there other general features for this baby? So are there other concerns in the form of hypertonia or poor growth? Et cetera? Is there a family history of known conditions or are the parents consanguineous? So increasing the risk of recessive disorders, you can take a history from the parents. Has there been recurrent miscarriages which might suggest um you know, early termination, spontaneous terminations due to underlying genetic disorders or concerns on the scans. Really importantly, have a look at the parents. Are these features just familial, I'm sure you've heard of the term normal for insert name. I don't want to offend anyone. But is that just normal for that family? Essentially before worrying too much and obviously, certainly in primary care, it's not going to be your job to make the definitive diagnosis. It's nice to have that kind of Sherlock moment where you've put all the pieces together and named the condition. But ultimately, you're going to be referring these babies on for further assessment. Some things that dysmorphic features can just be isolated, findings and not underlying with some genetic condition. Obviously, we need to be careful with our communication. You know, you can't just blurt out that you're worried about the way the baby's face looks, you need to be sensitive and subtle in the way you broach these subjects and just be aware of that. So some common things that we describe in the row of dysmorphism. So in particular with the eyes, hyper terrorism, so where the eyes are far apart, you can get hypo terrorism as well where the eyes are quite close together. And that's typically associated with this broad nasal bridge. Typical features of Down syndrome include having epicanthic folds and up slanting palpable fissures is pictured in this image here, the ears as well are the ears low set and the way you tell if an ear is low set. So if you imagine an imaginary line between the two camp the two corners of the eyes, if you draw a line between those and carry it around the head, if the top part of the ear falls under that line, then it's low set. So you see if I draw out a line on my head and come round, I touch the ear, so my ears are not low set. But if my ear was below that line, then it would be and they often as well are rotated posteriorly, micro is pictured here at the bottom left. So abnormally formed outer ear, the higher grades of these. So grade three and four are more likely to be associated with an ear canal disorder as well. And you might see little kind of extra skin tags and pits and things it can be associated with other problems but are usually benign. If you've been qualified a long time, you may have heard of the old thing that if there's an ear pit or skin tag, you need to do a renal ultrasound because of that association, but the pickup rate has not been found to be quite low. So the recommendation is you don't need to do a renal scan these days moving down to the mouth. So you're looking at the filtrum, the nose, I come on to in a bit and really, really importantly, looking in the mouth to assess for a cleft lip and palate, cleft lips and palates can be isolated or syndromic. Um There is a whole resource on cleft palate examination. So the R CPC released relatively recently, a best practice guideline which I recommend you have a look at and basically the main highlight coming out of that is that a lot of cleft pallets were being missed. Obviously, it's hard to miss a cleft lip, but a small cleft of the posterior palate can be easily missed in a rush. So the recommendation is to use a tongue depressor and a torch fully open the mouth and really visualize the back of the palate. And obviously, these babies would need referral if picked up um micron and retrognathia. So a small lower jaw, these are usually picked up antenatally on the anomaly scans. Again, they can be a part of a syndrome or a sequence. So the most classic is Pierre Robin syndrome, a sequence. It's not a syndrome, sorry. And if profound, it can have an impact on airway patency. So again, it should have been picked up soon after birth, but you will no doubt see patients in your surgeries with these findings. There's a few other kind of classic signs that you'll see. So a single palma creason down syndrome along with a sandal gap. So that increased distance between the 1st and 2nd toe neck webbing is pictured here, you might see in Turner syndrome or Noonan syndrome and the widely spaced nipples of Turner syndrome and obviously, other anatomical abnormalities can occur all over the body as well as inside the body and we'll be covering other things as we go. Um Again, there's another article for you to peruse which again outlines some key findings and things to think about when examining a dysmorphic baby. So we're going to start going down from the top to the bottom and thinking about other things that we might uncover during the finding. So from the top to the bottom, so head, we need to measure the head circumference, we're measuring across the widest part. So babies can have all kind of funny shaped heads find the largest circumference of that and that's the bit you're measuring and like all things measure twice cut, once there stain for measuring and plotting. So you want to measure it at least 23 times to get an accurate reading and then plot which one you feel is the most accurate. And serial measurements are helpful. Obviously, we obviously light growth charts in Children, but there's always more value in multiple readings rather than just one. And here's just an MRI of a baby with hydrocephalus and an image of a baby with microcephaly for comparison. So the Fontanel, so the soft spots usually only the anterior fontanelle is palpable at birth. But even then it can be very difficult to palpate some babies, it might be only like a centimeter size. So don't panic too much. If you can't feel one, you can sometimes feel the posterior fontanelle typically in babies with down syndrome, preterm babies or growth restricted infants. You'll be familiar with the kind of fontanelle signs in particular, the bulging fontanelle or the sunken fontanel. These are very subjective things I don't think I've ever used them clinically in my own practice if I'm honest. But, you know, they are described in the literature but they have generally quite low sensitivity and specificity. But obviously, if it's along with other signs, it might be something that increases your suspicion, but just the, you know, assess it in the context of the whole baby. I would say this one's a heavy slide again. Sorry, it's all coming up at once, but just a few things with the skull. So, craniotabes, this is probably one of the best descriptions of medicine, but it's described as a ping pong ball skull. If you all imagine picking up a ping ball, ping pong ball, you push it, it has that very distinctive feeling of the plastic will bend in and then pop out and that is exactly what craniotabes feels like. So you're feeling the scalp, you push down and you almost feel like the scalp is bending under your pressure. And as soon as you let go, it pops back up again. And that is what's termed craniotabes. It's essentially soft bone. It can be associated with hypothyroidism or profound Vitamin D deficiency. Essentially a sign of rickets. So I would always test babies. Vitamin D and T FT S. If you're feeling that craniosynostosis is a more significant disorder, it's therefore more rare, but this is caused by a premature fusion of the suture lines. So, as outlined in this previous image there's all the suture lines there. If you're imagining as the baby is growing inside those fuse prematurely, then the brain and the skull can't grow as it should. So it grows in kind of the opposite direction of where the suture line has um ah fused. So if you imagine that sagittal suture down the middle is fused, the brain, the skull will kind of grow lengthways, the metopic suture there, it can't grow sideways, so it grows as a triangle. And I've got those kind of couple of pictures there. So the sagittal scaphocephaly and the trigonocephalia of the metopic craniosynostosis. So it's helpful to if you're worried that there's a fusion when you feel have a look at the baby kind of head down like that. And if there's abnormal shapes, then refer them on again, there's an article here with some more examples and explanation. Um You can compare that with positional plagiocephalies. So, positional plagiocephalies is very common and generally caused just by the fact that babies spend most of their life laying down and it can cause an abnormal head shape. And that has a very classical kind of parallelogram appearance and generally won't displace the ears as much. Generally, just conservative management is preferred. You can refer to physio who can give some advice, but it's about trying to promote the baby facing the other way, parents to alternate the side that they're holding the baby and things like that. If you Google it, you will see pictures of babies with helmets, but that is quite the undertaking. They have to wear it for basically every hour of the day. It's not very practical. So it would only really be used in the most severe cases. Babies can have all sorts of lumps and bumps and swellings on their head. The significance of them depends on which layer of the scalp they are forming in. So the most common is just a capua conde name, which is just a boggy, swelling on the most superficial layer, that's kind of soft and boggy and will go away over the first few days. A cephalhematoma is a bleed under the periosteum. So the classic thing to differentiate a cephalhematoma is it won't cross the suture lines because it's under the periosteum which hugs the bone and the bleed won't go further than the edge of a bone. So it doesn't cross the suture lines. The most concerning bleed is a subgaleal hemorrhage, which is under what you see there is the gea aponeurotica. So that's the kind of base layer overlying the skull, but that is a huge potential space and there's nothing really to confine that bleed. And those babies, it's a far more diffuse swelling and it basically feels like a balloon filled with water because all of the layer under the scalp is filled with blood. So it feels like a water balloon and they can lose quite a significant amount of blood into that space. So if you're feeling that kind of sensation, you should refer them in to be looked at. So, facies again, quite a heavy slide here. Um You may have heard the term asymmetrical crying faces and as that name suggests that the asymmetry is often exacerbated when the baby is crying or may only be visible when the baby is crying. The two key differentials here is a facial nerve palsy or a really nice succinct name of a congenital hyperplasia of the depressor angularis oris muscle with the not very helpful acronym. However, you might say that. So facial nerve palsy always typically a peripheral nerve palsy, not central, typically caused by an instrumental delivery. So, forceps placed around the head can compress the facial nerve and cause most often temporary neurapraxia of it. The key thing to look for a facial nerve and the eye and the forehead will be affected as well because it's affecting that whole half of the face. Obviously, you get forehead sparing and a central lesion, but this is peripheral. So the forehead will be affected. You're mostly concerned if the eye doesn't close because then they have lost that protective reflex. Um so the vast majority will sort themselves out over the first few weeks of life. If it is persisting, then you can refer to physio. If the eye is exposed, then I would refer to the pediatrician straight away because we might need to use eye drops and the light to protect the eye. Um compare that with chal. So that is a congenital hyperplasia as the name suggests of one of the muscles around the mouth, which basically means it's not there and working as it should shadow is more significant because it can be linked with other um syndromes and other abnormalities and probably most significant congenital heart disease. So again, I I'd refer those babies in to be assessed, the nose can take on a funny shape. So babies can have a slightly crooked nose as a pictured here. The key thing is whether it's positional or an actual deviated septum, the positional, the main body of the nose generally looks ok, but there's just this slight deviation, a deviated septum if you're concerned, um it can cause airway obstruction and obviously has a bit more of a notable appearance. There's quite mixed information in the literature about it and quite scanty guidelines, I would say if in doubt, refer to ent even for positional deformities, some people recommend putting some steri strips along to kind of stick on the cheek to kind of pull the nose back. And if it is a deviated septum, there is an argument that needs to be replaced, relocated early to avoid permanent deformity. So, you know, generally with babies, you know, people aren't going to pre you referring in. It's always best to be safe than sorry with babies, isn't it? Because these things can have profound impacts as they grow up, you know, atresia. So an abnormally formed nasal passage where it hasn't formed bilateral because babies are obligate. Nasal breathers will present much earlier with respiratory distress. But a unilateral might not present straight away. Typically associated with recurrent sinus infections and nasal discharge in the mouth. You might see various things. So babies can be born with teeth, natal teeth or develop a tooth very early called a neonatal tooth. The main thing is if they're impacting on the feeding, so they'll obviously cause irritation to the breast, they can fall out and there's potentially an aspiration risk. So general advice is to refer to a pediatric dentist and they can be removed two normal findings of an Epstein pearl or a burn nodule, which are little kind of fatty deposits on the gums or in the mouth. Tongue tie. Very common. Medical name is ancho glossa. The presence of a tongue tie is very common. The key thing is if it's having an impact on the feeding and consequentially, the growth relatively controversial area within neonatology, probably more babies get treated than potentially needed to. But it's really helpful to get the input of an lactation consultant. Lots of the pathways are vary widely, even just a hospital next to each other can have grossly different pathways. So you should probably familiarize yourself with your local one, but lots of areas will have drop in feeding groups and things. And if in doubt pick up the phone. So eyes, there's lots of striking abnormalities, but a lot of things are normal. So, subconjunctival hemorrhages are common after birth just as a pressure effect. Babies often have this kind of pseudo squint appearance where it looks like they've got strabismus, but it is actually just the epicanthic folds and the positioning of the eyes. Um Don eyes, they have quite immature tear ducts so they can have all sorts of um uh you know, discharge coming from the eyes, but it's very rarely actually conjunctivitis, the white of the eyes will remain white and there's no erythema or infection. It's just poor immature tear ducts. Obviously, there's more significant findings. So an anophthalmia or a microphthalmia. So a malformed or small eye coloboma, this abnormality with the iris and the pupil that's significant because it's often linked with underlying conditions. Um I said the tear ducts can be immature. There is the condition of congenital nasolacrimal duct obstruction where they really haven't formed or opened up yet. And that can potentially lead to a condition called dacrocystitis where the tear ducts become swollen and infected. So, if that occurs, then those babies need a referral for treatment. Men about conjunctivitis, babies can have conjunctivitis, what's called ophthalmia, neonatorum or congenital conjunctivitis. And despite the name, it might not be present at birth that develop in the first few weeks. And basically, what we're worried about here is things that they could have picked up in the genital urinary tract on their way out. And the biggest concern is causes of STIs such as chlamydia or gonorrhea. These need systemic treatment. Obviously, we commonly treat conjunctivitis with eye drops. But in ophthalmia neonatorum, they need systemic IV treatment. So these babies should be referred in the fundal reflex. Again, you'll hear the term red reflex is a slight move away from that because depending on ethnicity, it's not always a red appearance, but the fundal reflex, you should see a nice symmetrical return flash from your light, make your life easy. Have a dark crew and get the parents to hold and settle the infant. Maximize your chances of the eyes opening and getting a good look. The primary reason we're doing it is to look for congenital cataracts or clouding of the cornea. You might see other pathology probably most famously, a retinoblastoma is an abnormality in the back of the eye. And obviously, if you've got any concerns that the appearance is abnormal or asymmetrical, then refer to ophthalmology, fibromatosis, coli sterno cla mastoid tumor. So this is a benign mass that you might feel in the anterior neck. Probably it's like a hematoma of the sterno cla of mastoid muscle typically appears in the first few weeks of life and can be associated with difficult births and most significantly, it can cause a torticolis. So, an abnormal positioning of the head. Um the sonographer or radiologist can do an ultrasound to confirm. But in these instances do refer these babies to physiotherapy because they can do massage and maneuvers to improve its recovery. And so upper limb abnormalities. So herbs and pumps palsies, these are birth injuries. They do need referral to physio. They often do improve by themselves. But obviously, physio can help and small number will need surgery. If there's been a really significant injury to the brachial plexus, they might need um surgery But generally a first step would be to refer to physio herbs is the upper brachial plexus, C five c six clump cases, lower c eight t one, you obviously could potentially have both at the same time and syndactyly. So syndactyly is a fusion of digits and there's different spectrum of complexity. So simple is just the skin complex is when the bone is fused as well. And complicated is where there's extra bones or tendons involved. It actually often runs in families can be associated with particular syndromes, but actually just often runs in families. And if you ask the parents, usually themselves or one of their siblings had it when they were born as well. You can refer to plastic surgery and, and they can operate. There's no particular rush with those things. They, they're unlikely to, to do matches when they're a baby. But um obviously in due course, um relatedly is polydactyly. So the presence of an extra digit, the extra digits are often small and malformed. It's rare to get kind of a fully formed extra digit. Again, this can run in families. There is slight difference in terminology. So you've got a preaxial where the lesion is on the ulnar side. So on the little finger side, and they are far more likely to be isolated and are the most common. And there's typically these kind of little extra kind of hanging bits that you see there. Postaxial is the radial side. So the thumb side, if you've got lesions there or an extra digit there, that's far more likely to be syndromic. So, postaxial on the thumb side, preaxial on the ulnar. Um And obviously, again, you can refer to plastic surgery and uh they can work magic. There's lots and lots of other things you might see in the limbs. There can be limb length, discrepancies or concerns of short bones. There might be missing limbs or missing digits that could be a developmental thing or you get this thing called um amniotic band syndrome where there's been bands within the amniotic fluid that have kind of caused a tourniquet effect and stopped the digital limb. Developing clinodactyly is a slight bending of one of the fingers. Brachydactyly, short fingers are adactyly, long fingers. So all sorts can be seen um when it comes to the spine and you want to check the alignment, some babies will be born with a scoliosis. And importantly, you need to assess down the bottom for any sacred dimples or pits, this little table here that I stolen from a hospital guideline of reference. There is a way to differentiate simple and complex pits. Generally, if there's a small pit, it's superficial, you can see the base of it. It's within a few centimeters of the anal opening. It's likely to be benign. If it's large, very deep off the midline or associated with other things, it's more likely to be significant. What we're worried about here is a spinal dyscephaly and it's a hard word to say, but a spinal kind of neural tube defect leading to a kind of spina bifida basically, and they're not necessarily very obvious from the outside, but the presence of an abnormal dimple or pit can suggest that the underlying spine is abnormal. So those babies need an ultrasound of the spine. So have a look at that guideline if you'd like to learn a little bit more, turning the baby over looking at the chest. Obviously, we're going to have an assessment of their work of breathing and their respiratory rate listening for added sounds. Um Obviously, grunting is a concerning source. A sign of respiratory distress in a baby. Grunting is an expiratory sound there, generating their own positive end expiratory pressure to try and maintain their residual capacity. So that's a kind of noise at the end of every breath, it's them trying to increase the pressure in their lungs. Stridor is an inspiratory sound and you can see it in babies who have laryngo malacia, which is basically a floppiness of the vocal cords and can come on over the first few weeks of life. It's typically a baby that looks very comfortable. But when they're in, sometimes you see it when they're in asleep can be exacerbated if they're upset and crying. But you get this inspiration noise, it was always bound to make me cough, but it could be potentially associated with increased work of breathing. Obviously, we don't like to mess around with the airways. So if you're worried, get them referred and seen breast buds, not uncommon. So they respond to estrogen. Obviously, estrogen circulating in the mum during the pregnancy can pass to the baby and they can develop small breast buds. You can in some babies actually get milk production after the delivery as the estrogen drops away. It's got a horrible name called witches milk is the colloquial name which I absolutely despise. But that is the term that you'll see if you look at it so you can get a small amount of milk. It's a normal variant. Essentially, it's nothing to worry about. Some babies are unfortunate enough to get a neonatal mastitis. If they have developed significant breast buds, they can rarely get infected as pictured on the right here. So this kind of red inflamed, swollen breast bud is a neonatal mastitis. It's rare but those babies like most baby infections need IV antibiotics. You might see a pepti excavatum. So, externum that's going inwards. It's actually usually asymptomatic at this age. It really has an impact on the breathing. You might see supernumerary nipples. So they might have a third or fourth nipple. Um Poland syndrome, I include for your interest. It's a nice spot diagnosis which is a unilateral absence of the chest wall muscles. They don't have a pectoris muscle can be associated with other symptoms on that side. So, syndactylies or rib abnormalities. So, if you see a syndactyly or a polydactyly, it's always just double checking that the musculature of the chest appears normal. Now, congenital heart disease, again, I could spend a whole weekend talking about this. Um People are sometimes falsely reassured because of antenatal testing and the anomaly scan that will pick up congenital heart disease, but it doesn't detect every heart disease. And some babies don't have the scan. People skip it. They've just come to the country and haven't had antenatal care. It's been an unbooked pregnancy. So don't rely on the fact that they would have potentially had a scan, there's different presentations in babies. So an incidental murmur that you might just pick up on your six week check, babies might develop heart failure typified by generally faltering growth, tach tachycardia. And hepatomegaly is really important sign of heart failure in babies. And you know, that's their peripheral edema essentially that you get in an older patient with heart failure, they might suddenly collapse and be critically unwell with a duct dependent lesion or unfortunately, they might die before a diagnosis is made. And so you're going to listen to the heart murmurs are not uncommon in newborns. Obviously, they have extra channels. Dxs, arteriosis, the P fo that is shunting blood in Nero and they can take time to close. So it's not unusual to hear a murmur in a baby, but you know, it can be difficult without experience to differentiate between a normal murmur or a concerning one. So um if you have heard a murmur, you want to feel for the femoral pulses, primarily looking at if there's a coarctation of the aorta. So a narrowing of the aorta which is going to decrease your lower limb BP and make the femoral pulses harder to feel if you're able to, you could do pre and post ductal saturations and just for reference. And so checking preductal saturations is looking for congenital heart disease. Some hospitals will do that as part of their 72 hour NP. But it's not universal as yet. Again, a bit of a controversial area within neonatology. But again, if you're worried about a baby, just check their saturations. I won't given the time I won't go into the physiology or pathophysiology of why we check pre and postductal saturations. But um you might remember from medical school, this is a guideline. I've stolen the resource here. It's a Scottish guideline. What to do with murmurs. This is actually really intended for babies on the postnatal ward. But it's a helpful differentiation, as I said, a couple of times if you're in primary care and you've got a baby with a heart murmur and you're unsure, refer them in, it's no harm, no foul. You know, in the hospital, we have the luxury of being able to observe and do all sorts of other tests. You don't have that luxury. So if you're worried, get them seen, but generally if an older baby they're well, they're growing well and it's a very soft murmur, it's probably unlikely to be significant and they could have a more routine appointment. But if it's a very loud murmur, it has heaves or frills, you're worried about feeding or growth, then certainly get them seen working our way down the abdomen and umbilical granuloma as the cord comes away, it can sometimes leave this kind of red, pinkish little remnant. It doesn't seem like it should work, but there is effective salt treatment where you, if you Google or salt treatment for the granuloma, I'm sure some of you are aware of it already. You literally put some table salt on it a couple of times a day and then wash it away and it helps it dry up in GP. If you have some silver nitrate around, you can put some of that on as well. Um It does predispose and can occur independently but babies can have infected cords what's termed omphalitis as pictured here. So, kind of erythematous, swollen and gunky, foul smelling these babies need to come in and have IV antibiotics. Hernias are not uncommon. So, an umbilical hernias or a hernia out of the belly button. Um, it's rarely, rarely significant, very common surgeons don't usually intervene until the baby's at least over five years of age. Inguinal hernias can occur most typically in preterm infants, they're more likely to strangulate than other hernia types. So, ideally in preterm babies, we would have picked this up before they'd gone home and they would have had their surgery before they've been discharged. But obviously, it might occur later and sometimes these things slip through the net. So if you worry about inguinal hernia, then refer them to the surgeons um and the diastasis recti. So you do see it in older people as well, but a weakness of the fascia between the abdominal muscles when the baby's moving, you can see kind of a bulging out in the midline of the abdomen, which is normal variant for a baby down to the genitalia. So, hypospadia is an abnormally positioned urethral meatus, most commonly, it's still quite distal in the glandular coronal positions. It can be anywhere along the penile shaft and the lower down is the closer the perineum. It is the more significant the finding. Um it's often associated with this hooded foreskin where the foreskin doesn't fully cover the glands of the penis. But has kind of this hooded appearance. These obviously need to be referred to the pediatric surgeons. We generally say to advise the family against the circumcision until they've been seen by the surgeons. Because sometimes the foreskin is needed as part of the surgical reconstruction. Undescended testes is important to pick up if we've had a unilateral sed testis at birth and we'll observe. And that's one of the things that we will ask you to recheck at 6 to 8 weeks. And if it's still unilateral at six weeks, then that's the time to refer to the surgeons. And they, you know, the risk doesn't start to occur until a bit later. But you want to get them in the system at that stage. If there's a bilateral undescended testes, that is actually a sign of a potential disorder of sexual differentiation. And so they need to be referred to pediatric straight away. Babies can be born with a hydrocele. So a fluid filled scrotal sac and that usually self resolves. But you can refer if it's still there at 12 months. And unfortunately, some babies can suffer testicular torsion that can occur antenatally or perinatally. Um If it's antenatally, um there's unfortunately nothing more we can do about it and it will typically might be swollen and firm, but it won't be tender. Um But like in any age group, if it's an acute torsion, it will be red, swollen and very tender and obviously, they need an urgent referral to ed under the surgeons, um ambiguous genitalia or D SD. So different terms depending on where you read. So, disorders of sexual development or differences of sexual differentiation, interchange those as you wish. But D SD, this is a huge, very complex and obviously very sensitive topic. Um The key summary is if you're concerned of abnormal genitalia, refer them to pediatrics. In particular babies that have congenital adrenal hyperplasia, they will have potentially abnormal genitalia, not necessarily, but they can become critically unwell with the salt wasting crisis due to the lack of mineral corticoids. And there are some review articles and things there that I've referenced, but a couple of images on the next slide of some key kind of findings that you might see. So I've already mentioned a severe hypospadia. So if you feel that urethral meatus is down near the perineum, that's very significant. A baby boy with bilateral under well, sorry. I said a baby boy, you can't necessarily say it's a boy in disorders of sexual differentiation, might look like a penis and testicles, but with bilateral undescended testes. And that's very notable significant tetra megaly, a very small penis, a bifid scrotum is pictured here. So the scrotum hasn't fully come down. It almost looks like two separate parts or an apparent female baby with notable inguinal masses which might be the gonads. Um some phrases that we would use in these kind of disorders rather than gender specific terms, we use phallus folds and gonads, the anus. So just a general point that babies should pass their first stool within 48 hours of birth. And a history of meconium does not rule out an anal rectal malformation because you sometimes have fistulae. So you might still get meconium in the nappy, but it's still an abnormality. You need a clean nappy area to examine these properly. You're asking yourself is the anus normal? So is it present in a normal position and with a normal appearance here are two pictures. The top one, there's an anus there, but it's in a very anterior abnormal position and in the bottom image, there's no anal opening at all. Um There's a very interesting and useful R SPC he learning on the subject, Vena rectum malformations, which the link is there. It doesn't take long to work through the e-learning but might be of interest to you. We at the end now, I'm wary. I'm well over time, all things considered, I think we're making reasonable progress. So D DH developmental dysplasia of the hip, you want to confirm the risk factors for D DH they are being born breach or no sorry being breach at any point after 36 weeks, gestation, even if you've turned a born Catholic. So breach at any stage after 36 in a preterm baby, they were born breach after 28 weeks gestation, a first degree relative with a history of D DH. So mom, dad or sibling with D DH in a multiple pregnancy, a risk factor for one twin earns a scan for both. And we generally also do a scan in babies with a fixed talipa. If there's only risk factors, the baby should have had a scan by 4 to 6 weeks, postnatal age. So generally that will probably should have been done by the time or around the time you're seeing them. So it's worth just checking, one was done or one is booked. And if there's an abnormal exam, ie on the following slide may need an urgent referral to your local D DH service, which is typically run by orthopedic surgeons and specialist physios, um how to examine. So, always examine with the nappy off. You're looking for symmetry of the limbs, the Barlow and the tests are the recommended maneuvers. So the Barlow, you're pushing down on the hips, you can do one at a time, but you're pushing down to see if the hip dislocates. So you'll push down and you'll feel a clunk, it will come out your to as you're putting the legs down to the side and you're pushing up at the hip joint. And that will see if um you relocate a dislocated hip. So again, you'll feel a little clunk as it goes back into the acetabulum, you'll also see this a or Galia sign. If you're put the feet together and look from the bottom of the bed and there's a disproportion in the heights of the knees. If AD DH is present a clicky hip, you might find it. You know, you kind of a feeling of crepitus, you know, exam in the knee of an adult and you move the knee, you feel kind of crepitus there. You might feel that kind of sensation when you're moving the hips around, but that's generally a normal finding and doesn't warrant the same kind of referral. Um looking at the feet. So they can obviously have similar findings to the fingers. So you might have syndactyly or polydactyly. We're also looking for forms of Talipes and there's various types here that you might see, you might infer the term clubfoot. So Talipes equi virus is the most common where the feet are kind of pointing in and a bit rotated. These can be fixed or positional. So positional, maybe if the baby's just been scrunched up in an unusual way in, they can kind of develop positional. Talipa fixed is obviously the bone and tendons are formed in that position. But you can refer to physio either way. Um Just some red flags. This is all stuff you should know and in the interest of time, I won't dwell on it. But you doing your ABCD E assessment. These are the things that would have me worried and just coming back to that point I made right at the start about trusting your instincts. If you feel something's not quite right. Trust your judgment. So we've covered a lot, sorry that I've overrun a little bit, but we've got there in the end that is what we've covered. I know there's lots of questions, I'm going to spend some time going through those. Now, these are the link of all of my image sources in roughly the right order. Um.