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Primary Care Updates 2024 Neonates: The Newborn Examination DrAndrew Elliot-Smith Consultant Neonatologist (Locum) – Evelina London,St.Thomas’ Hospital Honorary Clinical Lecturer – Queen Mary University of LondonLearning Objectives By the end of this session colleagues will have: • Gained an understanding of the wider neonatal screening programme and future prospects in this area • Learnt about the latest guidelines for conducting a comprehensive newborn examination, including any recent changes or advancements in this area • Enhanced their skills in identifying common and rare congenital anomalies during the newborn examination, understanding the implications and appropriate referral pathways for further assessment and treatment • Learnt to recognise the red-flag signs of neonatal illness and have gained an understanding of the appropriate steps for management and referralOverview • The UK Newborn Screening Programme • Potential Findings* • Red Flag Signs *Some of these would (hopefully) be picked up before the 6-week check! Warning – most topics covered could be an hour+ talk by themselves. Apologies in advance for the whistle-stop tour… A bibliography of all image sources is provided at the endOverview • The UK Newborn Screening Programme • Potential Findings* • Red Flag Signs *Some of these would (hopefully) be picked up before the 6-week check! Warning – most topics covered could be an hour+ talk by themselves. Apologies in advance for the whistle-stop tour… A bibliography of all image sources is provided at the endUK Newborn Screening Programme • One of a number of population wide screening programmes,e.g.breast cancer,cervical cancer • Is a continuation of screening started antenatally,e.g.foetal anomaly scan, infectious disease in pregnancy • Constitutes: • The Newborn Examination – within 72 hours and a repeat at 6-8 weeks • The Newborn Hearing Screen • The Newborn Blood SpotT est • Note:Parents can decline consent to any,or all,componentsUK Newborn Screening Programme • One of a number of population wide screening programmes,e.g.breast cancer,cervical cancer • Is a continuation of screening started antenatally,e.g.foetal anomaly scan, infectious disease in pregnancy • Constitutes: • The Newborn Examination – within 72 hours and a repeat at 6-8 weeks • The Newborn Hearing Screen • The Newborn Blood SpotT est • Note:Parents can decline consent to any,or all,componentsNewborn Hearing Screen • Estimated prevalence of moderate,severe or profound bilateral hearing loss is 1-2 per 1000. Increased to 1 in 100 for NICU babies!Newborn Hearing Screen • Estimated prevalence of moderate,severe or profound bilateral hearing loss is 1-2 per 1000. Increased to 1 in 100 for NICU babies! StandardT est: Automated Oto-Acoustic Emissions (AOAE)Newborn Hearing Screen • Estimated prevalence of moderate,severe or profound bilateral hearing loss is 1-2 per 1000. Increased to 1 in 100 for NICU babies! StandardT est: FailedAOAE/High-risk infants: Automated Oto-Acoustic Emissions AutomatedAuditory Brainstem Response (AOAE) (AABR)Newborn Hearing Screen • Some babies will skip screening and be referred direct to audiology: • Microtia/ear canal atresia • Congenital CMV • Bacterial meningitis • ProgrammableVP shunt in-situ • Others will have a screen but still be referred for follow-up (some discretionary): • Other congenital infections,e.g.toxoplasmosis • Syndromes associated with hearing impairment,e.g.Trisomy 21 • Other cranio-facial abnormalities,e.g.cleft palate • Temporal bone fracture • Severe jaundice (above exchange transfusion threshold) • Oto-toxic drugs e.g.aminoglycoside toxicity • Parent or professional concernNewborn Blood Spot (NBS) • Heel prick on day 5 of life • Tests for 9 conditions*: • Hypothyroidism (not central causes,as detects ↑TSH) • Cystic fibrosis • Sickle cell disease • Phenylketonuria • Medium-chain acyl-CoA dehydrogenase deficiency • Maple syrup urine disease • Isovaleric acidaemia • Glutaric aciduria type • Homocystinuria *Some countries test for moreNBS -T rials • In some areas of the country,extra tests are being performed as part of trials • Severe Combined Immunodeficiency (SCID) • Trial started in 2021,should finish in 2024 • Testing effects ~2/3 of population in England • Interim analysis: • ~400 referrals for abnormal results • 10 had SCID • Others had some other immunodeficiency • Pick up has been less,and testing more complex,than expected • Full report and decision to implement or not is pendingNBS -T rials • In some areas of the country,extra tests are being performed as part of trials • Severe Combined Immunodeficiency (SCID) • Trial started in 2021,should finish in 2024 • Testing effects ~2/3 of population in England • Interim analysis: • ~400 referrals for abnormal results • 10 had SCID • Others had some other immunodeficiency • Pick up has been less,and testing more complex,than expected • Full report and decision to implement or not is pendingNBS -T rials • Newborn Genomes Programme • An NHS-embedded study:The Generation Study • Sequencing genomes of 100,000 newborns • More info:www.genomicsengland.co.uk/initiatives/newbornsNewborn and Infant Physical Examination (NIPE) • Initial exam performed within 72 hours of birth • Initial exam by specially-trained midwife or “paediatrician” [read:member of the paediatric team!] • The key screening outcomes relate to: • Eyes • Heart • Hips • Testes (if applicable)Newborn and Infant Physical Examination (NIPE) • Initial exam performed within 72 hours of birth • Initial exam by specially-trained midwife or “paediatrician” [read:member of the paediatric team!] • The key screening outcomes relate to: • Eyes • Heart • Hips • Testes (if applicable)Newborn and Infant Physical Examination (NIPE) • Further check at 6-8 weeks with the GP! [i.e.you] • Why repeat it? • Things can normalise,e.g.unilateral undescended testis • Things may not be present at birth,e.g.infantile haemangioma • Things may have been missed,e.g.cleft palate • Don’t forget to review outcomes of initial check • Review pregnancy and family history • Review general progress,e.g.feeding,nappies,growth chart etc. • Any parental concerns? • Opportunity for health promotion too:immunisations,safe sleeping, e.g.LullabyTrust websiteNewborn and Infant Physical Examination (NIPE) • Further check at 6-8 weeks with the GP! [i.e.you] • Why repeat it? • Things can normalise,e.g.unilateral undescended testes • Things may not be present at birth,e.g.infantile haemangioma • Things may have been missed,e.g.cleft palate • Don’t forget to review outcomes of initial check • Review pregnancy and family history • Review general progress,e.g.feeding,nappies,growth chart etc. • Any parental concerns? • Opportunity for health promotion too:immunisations,safe sleeping, e.g.LullabyTrust websiteNewborn and Infant Physical Examination (NIPE) NIPE Resources: • Government‘Handbook’: • https://www.gov.uk/government/publications/newborn-and-infant-physical-examination- programme-handbook/newborn-and-infant-physical-examination-screening-programme- handbook • BMJArticle: • https://www.bmj.com/content/360/sbmj.j5726 • ‘E-learning for Healthcare’ package: • https://portal.e-lfh.org.uk/Catalogue/Index?HierarchyId=0_37527&programmeId=37527The Newborn Examination • The way we’ll approach it today: TOP GENERAL TOEThe Newborn Examination • The way we’ll approach it today: TOP GENERAL TOEThe Newborn Examination • How you can approach it in real life: Be opportunistic!The Newborn Examination • How you can approach it in real life: Be opportunistic!The Newborn Examination • How you can approach it in real life: Be opportunistic!General Examination • Like all patients,you can tell a lot from just looking: • Alertness • Colour • Rashes/Birthmarks • Macrosomic/IUGR/Dysmorphic • Resting tone:flexed,frog-legged? • Movements:symmetrical,smooth,jittery? • Respiratory rate/respiratory distress Trust your ‘well vs unwell’ instincts (and the parents’!)General Examination • Like all patients,you can tell a lot from just looking: • Alertness • Colour • Rashes/Birthmarks • Macrosomic/IUGR/Dysmorphic • Resting tone:flexed,frog-legged? • Movements:symmetrical,smooth,jittery? • Respiratory rate/respiratory distress Trust your ‘well vs unwell’ instincts (and the parents’!)General Exam - Colour • Any evidence of: • Jaundice • Need to be aware of the impact of skin • Pallor/Plethora colour on assessment - look at the sclera, • Cyanosis lips,palms/soles etc. • MottlingGeneral Exam - Colour • Any evidence of: • Jaundice • Need to be aware of the impact of skin • Pallor/Plethora colour on assessment - look at the sclera, • Cyanosis lips,palms/soles etc. • MottlingGeneral Exam - Colour • Plethoric infant • Due to polycythaemia • Picture is of twins withTwin-Anaemia-Polycythaemia-Sequence (TAPS)General Exam - Colour • Mottling vs Cutis Marmorata • Mottling – sign of poor perfusion,will have other features of illness • Cutis marmorata (pictured) – normal variant in skin appearance – most commonly when cool • Cutis marmorata telangiectasia congenita – genetic conditionGeneral Exam - Colour • Cyanosis • Blueish/grey discolouration • Check the saturations if in any doubt!General Exam - Colour • Cyanosis – side notes: • Acrocyanosis – not uncommon in first 48 hours of life.Can reoccur if cold. • Facial congestion – secondary to labourGeneral Exam - Colour • Cyanosis – side notes: • Acrocyanosis – not uncommon in first 48 hours of life.Can reoccur if cold. • Facial congestion – secondary to labourNeurologicalAssessment • Some general points: • The formal neurological examination of a baby takes skill and experience • There are formalised assessment tools,e.g.the Hammersmith assessments • However,a lot can be gained from general observation and tone assessment • Focal neurological signs are relatively rare in young babiesRestingTone (with extension during movements)RestingT one Normal – limbs flexed (with extension during movements) ‘Frog leg’ posture – hypotonia (and some babies who were breech)Tone -Ventral Suspension NormalTone -V entral Suspension Normal ‘Rag Doll’ Posture - HypotoniaTone -V entral Suspension Normal ‘Rag Doll’ Posture - HypotoniaT one – Head Lag • A degree of head lag is expected in a newborn • They gain increasing control over the first few months of life • When pulled-to-sit,they can generally bring their head forward when in the upright positionPrimitive Reflexes • Moro Reflex • Slightly lift the baby and let them fall back (they don’t have to fall far!) • Support the head • Sudden extension of the arms and fingers,then recoil to abduction,then relaxation • Observe for asymmetry • Should disappear (“integrate”) by ~6 months • Note – the Moro is not the same as a startle, induced by auditory stimulusPrimitive Reflexes • Moro Reflex • Slightly lift the baby and let them fall back (they don’t have to fall far!) • Support the head • Sudden extension of the arms and fingers,then recoil to abduction,then relaxation • Observe for asymmetry • Should disappear (“integrate”) by ~6 months • Note – the Moro is not the same as a startle, induced by auditory stimulusPrimitive Reflexes • AsymmetricT onic Neck Reflex –‘Fencing Reflex’ • Active or passive turning of head to one side causes: • Extension of the arm and leg on that side • Flexion of the opposite limbs • Should disappear by ~6 months of agePrimitive Reflexes • There are various others,e.g. • Rooting • Sucking • Stepping • Grasp/Plantar • Tonic labyrinthine reflexNeurological Concerns - Summary • If concerned about a baby’s tone/neurology,they will require paediatric referral • ?Acutely unwell or very young – urgent referral to paediatric ED • If older and worried about development,consider Community Paediatric Referral • Resources: • A nice review on the neurological examination of a baby: • https://torontocentreforneonatalhealth.com/wp-content/uploads/2020/06/Neonatal-Neuro- Exam.pdf • An‘old school’ website with lots of videos on assessing neurology in babies: https://neurologicexam.med.utah.edu/pediatric/html/home_exam.html • NICE Guidance:https://www.nice.org.uk/guidance/ng127/chapter/Recommendations-for-children- aged-under-16#hypotonia-floppiness • Further Reading:https://dontforgetthebubbles.com/an-approach-to-the-floppy-infantNeurological Concerns - Summary • If concerned about a baby’s tone/neurology,they will require paediatric referral • ?Acutely unwell or very young – urgent referral to paediatric ED • If older and worried about development,consider Community Paediatric Referral • Resources: • A nice review on the neurological examination of a baby: • https://torontocentreforneonatalhealth.com/wp-content/uploads/2020/06/Neonatal-Neuro- Exam.pdf • An‘old school’ website with lots of videos on assessing neurology in babies: https://neurologicexam.med.utah.edu/pediatric/html/home_exam.html • NICE Guidance:https://www.nice.org.uk/guidance/ng127/chapter/Recommendations-for-children- aged-under-16#hypotonia-floppiness • Further Reading:https://dontforgetthebubbles.com/an-approach-to-the-floppy-infantBirthmarks and Rashes • Aplasia cutis • Abnormal development of skin • Typically affects the scalp • Can be variable in size and depth • Refer to dermatologyBirthmarks and Rashes • ErythemaToxicum -‘BabyAcne’Birthmarks and Rashes • Pustular melanosisBirthmarks and Rashes • Milia –‘Milk Spots’Birthmarks and Rashes • Stork Mark/Salmon Patch/Naevus Simplex • Typically on forehead or nape of neck • Can become redder when cryingBirthmarks and Rashes • Congenital Dermal Melanocytosis –‘Blue Spots’ • Very common,especially in babies from black/Asian backgrounds • Flat blue/grey discolouration,typically over spine/buttocks,but can be anywhere • Vary in size,can be very large • Useful to document their presence,as helpful in safeguarding casesBirthmarks and Rashes • Haemangiomas • Note - there is a difference between‘congenital’ and‘infantile’ haemangiomas • Due to abnormal vascular development • Medical and surgical treatment options do existBirthmarks and Rashes • Congenital Haemangiomas • Present at birth • Usually red/purple colour +/- telangiectasia • Some will involute in first 2 years,others will grow in proportion with child • Refer to dermatologyBirthmarks and Rashes • Infantile Haemangiomas • There may be a visible lesion at birth,but typically develop over the first months of life • Appearance will vary depending on depth • Classic appearance is a raised bright red lesion (strawberry naevus) • Most will grow for 1-2 years,then involute (90% by 9 years) • Can refer to derm if very large or in concerning area,e.g.near eyes/mouth etc.Birthmarks and Rashes • PortWine Stain – Naevus Flammus • A capillary malformation • Present from birth and persists for life • Can be associated with syndromes/other abnormalities,e.g.Sturge-Weber,KlippelTrenaunay • Refer to dermatologyBirthmarks and Rashes • Café-au-lait spots • Light brown macules • Can be present at birth or develop later • Multiple (≥6) or very large can be associated with underlying conditions,e.g.NF1Birthmarks and Rashes • Melanocytic Naevi • Darker than café-au-lait spots • Can be raised,may have hair tufts • Can be very large • Cosmetic treatments exist • Slight propensity for melanoma depending on type/sizeBirthmarks and Rashes • Petechiae • Some petechiae can be seen post-delivery,especially in pressure areas,e.g.face • However,it’s important to rule out thrombocytopaenia (which has a myriad of causes) +/- serious illnessBirthmarks and Rashes • Petechiae • Some petechiae can be seen post-delivery,especially in pressure areas,e.g.face • However,it’s important to rule out thrombocytopaenia (which has a myriad of causes) +/- serious illness • Some more conditions and examples of neonatal dermatology: • https://dontforgetthebubbles.com/neonatal-dermatology/General Exam - Dysmorphism • Dys = impaired,morphism = form. • A huge topic on its own… But don’t consider dysmorphic features in isolation: • Are the features associated with other concerns,e.g.hypotonia,faltering growth,developmental delay? • Any known family history of conditions? Consanguinity? • Pregnancy history,e.g.recurrent miscarriages, abnormal scans,maternal health and drug history (illicit and prescribed) • Do they look like the parents? i.e.is it“normal for __insert humorous nearby town name here__” • Remember: • It’s not your job to make the definitive diagnosis! • Some abnormalities will be isolated • Be sensitive with your communicationGeneral Exam - Dysmorphism • Dys = impaired,morphism = form. • A huge topic on its own… But don’t consider dysmorphic features in isolation: • Are the features associated with other concerns,e.g.hypotonia,faltering growth,developmental delay? • Any known family history of conditions? Consanguinity? • Pregnancy history,e.g.recurrent miscarriages, abnormal scans,maternal health and drug history (illicit and prescribed) • Do they look like the parents? i.e.is it“normal for __insert humorous nearby town name here__” • Remember: • It’s not your job to make the definitive diagnosis! • Some abnormalities will be isolated • Be sensitive with your communicationGeneral Exam - Dysmorphism • Dys = impaired,morphism = form. • A huge topic on its own… But don’t consider dysmorphic features in isolation: • Are the features associated with other concerns,e.g.hypotonia,faltering growth,developmental delay? • Any known family history of conditions? Consanguinity? • Pregnancy history,e.g.recurrent miscarriages, abnormal scans,maternal health and drug history (illicit and prescribed) • Do they look like the parents? i.e.is it“normal for __insert humorous nearby town name here__” • Remember: • It’s not your job to make the definitive diagnosis! • Some abnormalities will be isolated • Be sensitive with your communicationGeneral Exam - Dysmorphism • Things to look for: • Eye position and features • Hypertelorism • Broad nasal bridge • Epicanthic folds • Upslanting palpebral fissureGeneral Exam - Dysmorphism • Things to look for: • Ears • Low set? (imagine a line drawn out from the canthi of eyes to the top of the ear) • Rotated? • Microtia • Accessory tags and pits (usually benign)General Exam - Dysmorphism • Things to look for: • Ears • Low set? (imagine a line drawn out from the canthi of eyes to the top of the ear) • Rotated? • Microtia • Accessory tags and pits (usually benign)General Exam - Dysmorphism • Things to look for: • Nose/Mouth • Structure of nose • Smooth philtrum • Cleft lip +/- palate • Can be isolated or syndromicCleft Lip/Palate • RCPCH Best Practice Guideline: • Endorse the use of tongue depressor and torch to visualise palate • www.rcpch.ac.uk/resources/palate-examination-identification-cleft-palate-newborn-best-practice- guideGeneral Exam - Dysmorphism • Micrognathia +/- retrognathia • May be part of sequence (i.e.Pierre-Robin) or syndromic • Can have impact on airway patency Dysmorphism - other areas Single Palmar Crease Sandal Gap NeckWebbing Widely Spaced Nipples • Anatomical abnormalities can occur all over (as well as in!) the body • Other findings will be covered in relevant sections • Summary article on the assessment of the dysmorphic infant: • https://www.infantjournal.co.uk/pdf/inf_024_dyc.pdf Dysmorphism - other areas Single Palmar Crease Sandal Gap NeckWebbing Widely Spaced Nipples • Anatomical abnormalities can occur all over (as well as in!) the body • Other findings will be covered in relevant sections • Summary article on the assessment of the dysmorphic infant: • https://www.infantjournal.co.uk/pdf/inf_024_dyc.pdfTop-tooe Examination TOP TOEHead • Measure head circumference • Widest part • Measure a few times for accuracy • Serial measurements are helpfulFontanelles • Usually only anterior fontanelle palpable at birth;it can be very small • Prominent posterior fontanelle can be present in some babies,e.g.Downs,preterm,IUGR • ‘Bulging fontanelle’ (at rest) sign of raised ICP* • ‘Sunken fontanelle’ sign of dehydration* *Fairly subjective with low sensitivity/specificityFontanelles • Usually only anterior fontanelle palpable at birth;it can be very small • Prominent posterior fontanelle can be present in some babies,e.g.Downs,preterm,IUGR • ‘Bulging fontanelle’ (at rest) sign of raised ICP* • ‘Sunken fontanelle’ sign of dehydration* *Fairly subjective with low sensitivity/specificitySkull • Craniotabes – soft bones • ‘Ping pong ball’ feel to bone • Suggest checking vitamin D +/-TFTs • Craniosynostosis • Rare.Caused by premature fusion of suture lines, leading to abnormal head shape. • Can be isolated or syndromic • If worried,refer to neurosurgery • Article with examples: www.bmj.com/content/381/bmj-2022-073906.full • Positional plagiocephaly • Common.Has a parallelogram appearance. • Conservative management preferred • Can refer to physioSkull • Craniotabes – soft bones • ‘Ping pong ball’ feel to bone • Suggest checking vitamin D +/-TFTs • Craniosynostosis • Rare.Caused by premature fusion of suture lines, leading to abnormal head shape. • Can be isolated or syndromic • If worried,refer to neurosurgery • Article with examples: www.bmj.com/content/381/bmj-2022-073906.full • Positional plagiocephaly • Common.Has a parallelogram appearance. • Conservative management preferred • Can refer to physioSkull • Craniotabes – soft bones • ‘Ping pong ball’ feel to bone • Suggest checking vitamin D +/-TFTs • Craniosynostosis • Rare.Caused by premature fusion of suture lines, leading to abnormal head shape. • Can be isolated or syndromic • If worried,refer to neurosurgery • Article with examples: www.bmj.com/content/381/bmj-2022-073906.full • Positional plagiocephaly • Common.Has a parallelogram appearance. • Conservative management preferred • Can refer to physioLumps and Bumps • Head swellings Facies • Any evidence of asymmetry? Usually exacerbated by crying. • If affecting cheek/forehead,suggests facial nerve palsy.?Forceps delivery • If only around mouth,could be congenital hypoplasia of depressor angularis oris muscle (CHDAOM).This can be syndromic,so worth referring for assessment. • Paediatric physio referral if persists.Some specialist surgical interventions available. Right FNP (note eye and forehead) Left-sided CHDAOM Facies • Any evidence of asymmetry? Usually exacerbated by crying. • If affecting cheek/forehead,suggests facial nerve palsy.?Forceps delivery • If only around mouth,could be congenital hypoplasia of depressor angularis oris muscle (CHDAOM).This can be syndromic,so worth referring for assessment. • Paediatric physio referral if persists.Some specialist surgical interventions available. Right FNP (note eye and forehead) Left-sided CHDAOM Facies • Any evidence of asymmetry? Usually exacerbated by crying. • If affecting cheek/forehead,suggests facial nerve palsy.?Forceps delivery • If only around mouth,could be congenital hypoplasia of depressor angularis oris muscle (CHDAOM).This can be syndromic,so worth referring for assessment. • Paediatric physio referral if persists.Some specialist surgical interventions available. Right FNP (note eye and forehead) Left-sided CHDAOMNose • ‘Crooked nose’ – asymmetrical nares • Can be positional from in-utero/delivery • If related to deviated septum,may have stertor/risk of permanent deformity • Guidelines scanty – consider referral to ENT • ChoanalAtresia • Bilateral will have respiratory distress, but unilateral may not present immediately Positional Deviated SeptumNose • ‘Crooked nose’ – asymmetrical nares • Can be positional from in-utero/delivery • If related to deviated septum,may have stertor/risk of permanent deformity • Guidelines scanty – consider referral to ENT • ChoanalAtresia • Bilateral will have respiratory distress, but unilateral may not present immediately Positional Deviated SeptumMouth • Natal or Neonatal teeth • May impact feeding • Potentially can fall out • Consider referral to paediatric dentist • Epstein pearl • Bohn’s nodules – Gingival cystsMouth • Natal or Neonatal teeth • May impact feeding • Potentially can fall out • Consider referral to paediatric dentist • Epstein pearl • Bohn’s nodules – Gingival cystsMouth • TongueTie –Ankyloglossia • The presence of a tongue-tie is common • Key issue is if it’s impacting on feeding/growth • Helpful to get input from lactation consultant • Lots of areas have drop-in feeding support groups • Referral pathways for treatment vary widelyEyes • There are lots of striking yet normal/common appearances in the neonatal period: • Subconjunctival haemorrhages • Pseudo-squint • ‘Gunky’ eyesEyes • Other findings are more relevant: • An/micro-opthalmia • ColobomaEyes • Other findings are more relevant: • Congenital nasolacrimal duct obstruction (CNLDO)/dacryostenosis → dacryocystitis • CNLDO is common,generally causes teary eyes • Can massage the tear ducts to promote flow • Usually self-resolves by 1-2 years • If the duct becomes swollen/infected,causes acute dacryocystitis (pictured)Eyes • Other findings are more relevant: • Congenital nasolacrimal duct obstruction (CNLDO)/dacryostenosis → dacryocystitis • CNLDO is common,generally causes teary eyes • Can massage the tear ducts to promote flow • Usually self-resolves by 1-2 years • If the duct becomes swollen/infected,causes acute dacryocystitis (pictured)Eyes • Other findings are more relevant: • Congenital conjunctivitis - ophthalmia neonatorum • Despite the name,may not be present from birth but develop in first few weeks • Muco-purulent discharge,erythema,eye lid swelling • Main concern is of chlamydia or gonorrhoea infection • Refer for testing/treatment (some causes require systemic therapy)Eyes • Fundal Reflex -‘Red’ reflex • One of the key areas to be opportunistic! • Make your life easy - dark room,parents can hold etc. • Primary reason to do is to detect congenital cataracts.Other pathology may be detected. • Refer to ophthalmologyNeck • Fibromatosis colli - Sternocleidomastoid tumour • Benign mass in anterior neck • Typically presents in first few weeks • May be associated with difficult delivery • Can cause torticollis • Can request ultrasound to confirm • Refer to physioUpper Limb • Erb’s and Klumpke’s Palsies • Birth injuries • Refer to physio • Small number need surgeryUpper Limb • Syndactyly • Complete or incomplete fusion of digits • Simple – just skin • Complex – fused bone also • Complicated – extra bones/tendons etc. • Often runs in families.Can be syndromic. • Refer to plastic surgeryUpper Limb • Polydactyly • Presence of extra digits. They’re often small and malformed. • Can run in families • Described as: • Pre-axial – ulnar side,more likely to be isolated.Most common. • Post-axial – radial side,more likely to be syndromic • Refer to plastic surgeryUpper Limb • Various other findings may be seen,e.g. • Limb length discrepancies • Missing or malformed bones/digits;developmental vs amniotic-band • Clinodactyly • Brachydactyly • ArachnodactylySpine • Check for alignmentSpine • Check for alignment • Any sacral dimples/pits? • Can request ultrasound +/- refer to neurosurgery https://cahs.health.wa.gov.au/~/media/HSPs/CAHS/Documents/Health-Professionals/Neonatology-guidelines/Sacral-Dimples-or-Pits.pdf?thn=0Chest • Assess for tachypnoea/increased work of breathing. Any added sounds? • Stridor, worsened by distress, may suggest laryngomalaciaChest • Assess for tachypnoea/increased work of breathing. Any added sounds? • Stridor, worsened by distress, may suggest laryngomalacia • Breast buds • Not uncommon,due to oestrogen exposure • Neonatal lactation can occur • Neonatal mastitis is rare,needs IV antibioticsChest • Pectus excavatum • Not uncommon • Usually asymptomatic • Supernumerary nipplesChest • Pectus excavatum • Poland Syndrome • Not uncommon • Unilateral absence of chest wall muscles • Usually asymptomatic • Can be associated with other features,e.g. • Supernumerary nipples syndactyly,rib abnormalitiesHeart • Congenital heart disease is one of the most common birth defects • Some,but not all,are detected antenatally – for a variety of reasons! • Different modes of presentation in babies: • Asymptomatic: e.g.incidental murmur • Development of heart failure:faltering growth,tachypnoea,tachycardia,hepatomegaly • Critical deterioration:duct-dependent,cyanosis,shock • DeathHeart • Congenital heart disease is one of the most common birth defects • Some,but not all,are detected antenatally – for a variety of reasons! • Different modes of presentation in babies: • Asymptomatic: e.g.incidental murmur • Development of heart failure:faltering growth,tachypnoea,tachycardia,hepatomegaly • Critical deterioration:duct-dependent,cyanosis,shock • DeathHeart • Heart Murmur? • Not uncommon in newborns,however, could be a sign of significant CHD • More info on next slide • Check femoral pulses • Pre-post ductal saturations • SomeTrusts incorporate routine testing at the initial NIPE • Not formally recommended as screening method;remains a controversial area… • If you have any worries,check the sats!Heart • Heart Murmur? • Not uncommon in newborns,however, could be a sign of significant CHD • More info on next slide • Check femoral pulses • Pre-post ductal saturations • SomeTrusts incorporate routine testing at the initial NIPE • Not formally recommended as screening method;remains a controversial area… • If you have any worries,check the sats!Heart murmurs in the neonate:an approach to the neonate with a heart murmur www.clinicalguidelines.scot.nhs.uk/nhsggc-guidelines/nhsggc-guidelines/neonatology/heart-murmurs-in-the-neonate-an-approach-to-the-neonate-with-a-heart-murmur/Abdomen • Umbilical Granuloma • Pink/red lump • Salt treatment • Can apply silver nitrateAbdomen • Umbilical Granuloma • Pink/red lump • Salt treatment • Can apply silver nitrate • Infected cord - omphalitis • Refer to EDAbdomen • Umbilical hernia • Rarely significant • Surgeons usually wait until at least >5 to intervene • Inguinal hernia • Not uncommon in preterm infants • More likely to strangulate • Refer to paediatric surgery • Diastasis recti • Normal variant in babiesAbdomen • Umbilical hernia • Rarely significant • Surgeons usually wait until at least >5 to intervene • Inguinal hernia • Not uncommon in preterm infants • More likely to strangulate • Refer to paediatric surgery • Diastasis recti • Normal variant in babiesAbdomen • Umbilical hernia • Rarely significant • Surgeons usually wait until at least >5 to intervene • Inguinal hernia • Not uncommon in preterm infants • More likely to strangulate • Refer to paediatric surgery • Diastasis recti • Normal variant in babiesGenitalia • Hooded foreskin and Hypospadias • Advise against circumcision • Helpful to ensure adequate urinary stream • Proximal lesions raise suspicion of a DSD (discussed later) • Refer to paediatric surgeonGenitalia • UndescendedT estes • Unilateral at birth – observe • Unilateral at 6 weeks – refer to surgeon • Bilateral – refer to paediatrics (?DSD) • Congenital Hydrocele • Usually self-resolves • Can refer if persists >12 months • NeonatalT esticularT orsion • Can occur antenatally or perinatally • Urgent surgical referral if acute – e.g.red,inflamed,tender • If antenatal,will generally be firm,non-tenderGenitalia • UndescendedT estes • Unilateral at birth – observe • Unilateral at 6 weeks – refer to surgeon • Bilateral – refer to paediatrics (?DSD) • Congenital Hydrocele • Usually self-resolves • Can refer if persists >12 months • NeonatalT esticularT orsion • Can occur antenatally or perinatally • Urgent surgical referral if acute – e.g.red,inflamed,tender • If antenatal,will generally be firm,non-tenderGenitalia • UndescendedT estes • Unilateral at birth – observe • Unilateral at 6 weeks – refer to surgeon • Bilateral – refer to paediatrics (?DSD) • Congenital Hydrocele • Usually self-resolves • Can refer if persists >12 months • NeonatalT esticularT orsion • Can occur antenatally or perinatally • Urgent surgical referral if acute – e.g.red,inflamed,tender • If antenatal,will generally be firm,non-tenderGenitalia • Ambiguous genitalia • Disorders/Differences of Sexual Development/Differentiation (DSD) • A complex and sensitive topic • Key summary: • If concerned of abnormal genitalia,urgent referral to paediatrics • Congenital adrenal hyperplasia (CAH) may cause a salt-wasting crisis/shock • A number of recent review articles and guidelines exist: • UK Endocrinology Society:https://onlinelibrary.wiley.com/doi/10.1111/cen.14528 • BMJ Best Practice:https://bestpractice.bmj.com/topics/en-gb/868Genitalia • Ambiguous genitalia • Disorders/Differences of Sexual Development/Differentiation (DSD) • A complex and sensitive topic • Key summary: • If concerned of abnormal genitalia,urgent referral to paediatrics • Congenital adrenal hyperplasia (CAH) may cause a salt-wasting crisis/shock • A number of recent review articles and guidelines exist: • UK Endocrinology Society:https://onlinelibrary.wiley.com/doi/10.1111/cen.14528 • BMJ Best Practice:https://bestpractice.bmj.com/topics/en-gb/868Genitalia • DSD – when to consider? • Severe hypospadias • Bilateral undescended testes • Clitoromegaly • Micropenis • Bifid scrotum • Apparent female infant with inguinal masses • Some helpful descriptive terms • Phallus – rather than clitoris/penis • Folds – rather than labia/scrotum • Gonads – rather than ovary/testesGenitalia • DSD – when to consider? • Severe hypospadias • Bilateral undescended testes • Clitoromegaly • Micropenis • Bifid scrotum • Apparent female infant with inguinal masses • Some helpful descriptive terms • Phallus – rather than clitoris/penis • Folds – rather than labia/scrotum • Gonads – rather than ovary/testesGenitalia • Anus • Babies should pass first meconium within 48 hours of birth • A history of meconium does not rule out an ano-rectal malformation,due to fistulae • Need a clean area to examine properly! • Is the anus present,in a normal position,with normal appearance? • If concerns,urgent referral to paediatric surgeryGenitalia • Anus • Babies should pass first meconium within 48 hours of birth • A history of meconium does not rule out an ano-rectal malformation,due to fistulae • Need a clean area to examine properly! • Is the anus present,in a normal position,with normal appearance? • If concerns,urgent referral to paediatric surgeryGenitalia • Anus • Babies should pass first meconium within 48 hours of birth • A history of meconium does not rule out an ano-rectal malformation,due to fistulae • Need a clean area to examine properly! • Is the anus present,in a normal position,with normal appearance? • If concerns,urgent referral to paediatric surgery • There’s a relatively new RCPCH e-Learning on the subject: https://learning.rcpch.ac.uk/courses/detecting- ano-rectal-malformations-core/Developmental Dysplasia of the Hip (DDH) • Confirm risk factors: • Breech after 36/40 (even if cephalic at birth) • Babies born breech after 28/40 • First-degree relative of DDH • In multiple pregnancy,a risk factor for one sibling triggers scan for both • (Fixed talipes) • If risk factors only,should have hip scan at 4-6 weeks postnatal age – check this was done! • If abnormal exam,urgent referral to local DDH service (usually MDT with ortho and physio)Developmental Dysplasia of the Hip (DDH) • Confirm risk factors: • Breech after 36/40 (even if cephalic at birth) • Babies born breech after 28/40 • First-degree relative with DDH • In multiple pregnancy,a risk factor for one sibling triggers scan for both • (Fixed talipes) • If risk factors only,should have hip scan at 4-6 weeks post-term – check this was done! • If abnormal exam,urgent referral to local DDH service (usually MDT with ortho and physio)Hips • Examine with nappy off • Assess for symmetry • Barlow and Ortolani tests • Can also look forAllis/Galeazzi sign (below) • ‘Clicky hips’ are common and don’t require referralFeet • Can have similar abnormalities to the hands,e.g.syndactyly,polydactyly • Assess for talipes • There are various types • Can be positional or fixed • Can refer to physio,either wayFeet • Can have similar abnormalities to the hands,e.g.syndactyly,polydactyly • Assess for talipes • There are various types • Can be positional or fixed • Can refer to physio,either wayRed Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!Red Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!Red Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!Red Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!Red Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!Red Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!Red Flag Signs (in a baby) A: D: • Stridor/Grunting • Lethargic or irritable (high-pitched, inconsolable cry) B: • Hypotonia • Tachypnoea (>60) • Temperature >38 ºC in a baby <3 months • Respiratory distress E: C: • Non-blanching rash • Pale • Reduced feeding,definitely if <50% • Cyanosis normal +/- reduced wet nappies • Mottled/Prolonged capillary refill • Bilious vomits,blood in stool • Appears malnourished Remember: • Developmental regression Trust your instincts!SummarySummary • We’ve covered a lot… • The UK Newborn Screening Programme • Potential Findings • Red Flag SignsThanks for Listening Any Questions?A [Quick] Picture Bibliography 1 of 4 Sources of images,in [rough] order of appearance… https://www.denochearing.com/oto-acoustic-emission/ https://www.ssc.education.ed.ac.uk/courses/deaf/dfeb09i.html https://www.southtees.nhs.uk/services/children-and-young-people/specialty/neonatal/family-guide/newborn-blood-spot-screening-for-you-and-your-baby/ https://www.nhs.uk/conditions/jaundice-newborn/symptoms/ https://www.kjkhospital.com/neonatal-jaundice/ https://casereports.bmj.com/content/2016/bcr-2016-216805 https://www.facebook.com/677276295625642/photos/a.680933508593254/3689033974449844/?type=3&locale=sq_AL https://www.researchgate.net/figure/Facial-Duskiness-due-to-tight-Nuchal-cord_fig5_321440874 https://dermnetnz.org/topics/cutis-marmorata https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/aplasia-cutis-congenita-congenital-skin-anomaly/ https://nextstepsinderm.com/friday-pop-quiz-17-4-26/ https://emedicine.medscape.com/article/1110731-clinical?form=fpf https://thelactationcollege.substack.com/p/pediatric-pearls-infants-skin-part-fd3 https://fight.org/programs-and-services/patient-education/newborn-skin-care/ https://www.semanticscholar.org/paper/%5BTransient-pustular-eruption-in-neonates%5D.-Mebaz%C3%A2a- Kort/2998b98375d8d2fa5c180ea2f11b3ce0a7be6cf6/figure/2 https://emedicine.medscape.com/article/910405-overview?form=fpf https://www.mountsinai.org/health-library/diseases-conditions/milia https://www.medicalnewstoday.com/articles/stork-bite https://www.whattoexpect.com/first-year/baby-care/baby-skin-care/stork-bites.aspx https://www.pcds.org.uk/clinical-guidance/salmon-patch-syn-naevus-simplex-stork-bite-if-involves-the-forehead https://raisingchildren.net.au/guides/a-z-health-reference/birthmarksenital-and-infantile-hemangiomas/ https://www.consultant360.com/articles/hemangiomas-distinguishing-between-various-types-vascular-lesions-infants https://en.wikipedia.org/wiki/Infantile_hemangiomaA [Quick] Picture Bibliography 2 of 4 Sources of images,in [rough] order of appearance… https://www.whattoexpect.com/first-year/baby-care/baby-skin-care/hemangioma.aspx https://www.arkayli.com/infantile-hemangioma https://www.childrens.com/specialties-services/conditions/port-wine-stains https://www.discovermongolia.mn/blogs/mongolian-blue-spot https://www.flickr.com/photos/sydney/3032075725 https://www.sciencedirect.com/science/article/pii/S2352241016300330 https://www1.racgp.org.au/ajgp/2019/august/management-of-pigmented-skin-lesions-in-childhood https://www.aafp.org/pubs/afp/issues/2015/1201/p1017.html https://www.mattoslactation.com/blog/2018/12/1/5-nursing-positions-you-may-not-know-about-with-pictures https://esupermk.live/product_details/14618377.html https://esupermk.live/product_details/14618382.html https://neurologicexam.med.utah.edu/pediatric/html/home_exam.html https://en.wikipedia.org/wiki/Asymmetrical_tonic_neck_reflex https://www.healthline.com/health/baby/grasp-reflex https://www.beingtheparent.com/stepping-reflex-in-babies-everything-you-need-to-know/ https://ph.theasianparent.com/rooting-reflex-newborn https://ditki.com/course/pathology/glossary/developmental-process/down-syndrome https://med.stanford.edu/newborns/professional-education/photo-gallery/eyes.html https://genetics.pediatrics.med.ufl.edu/teaching-resources/facial-dysmorphology/ https://microtiaandatresiacare.com/microtia-and-atresia/ https://www.pinterest.co.uk/pin/659284832931116860/ https://lawplasticsurgery.com/cleft-lip-repair-primary-bilateral-before-after-photos/ructive/reconstructive/cleft-palate https://www.consultant360.com/articles/single-transverse-palmar-crease https://med.stanford.edu/newborns/professional-education/photo-gallery/dysmorphology.htmlA [Quick] Picture Bibliography 3 of 4 Sources of images,in [rough] order of appearance… https://www.drchetan.com/wp-content/uploads/2010/01/micrognathia-3.jpg https://www.researchgate.net/figure/Grading-system-for-retrognathia-on-lateral-views-of-infants-with-Pierre-Robin-sequence_fig2_329079161 https://www.researchgate.net/figure/Brain-magnetic-resonance-imaging-of-the-neonate-reported-as-case-2-Hydrocephalus-and_fig2_305076421 https://www.jpeds.com/article/S0022-3476%2819%2930431-7/fulltext#back-bib1 https://www.chp.edu/our-services/plastic-surgery/conditions/deformational-plagiocephaly-and-brachycephaly https://www.davidjohnsonoxfordplasticsurgeon.co.uk/craniofacial-surgery/craniosynotosis-surgery/ https://fight.org/programs-and-services/patient-education/newborn-care-head-and-neck/ https://perthcdc.net.au/resources/birth-injuries-to-scalp-in-newborns/ https://www.researchgate.net/figure/Clinical-photograph-of-a-6-day-old-infant-showing-natal-and-neonatal-teeth-in-the_fig1_285588021 https://www.quora.com/What-is-an-Epstein-pearl http://www.paedicare.com.au/babys-eyes/ https://www.birthinjuryguide.org/birth-injury-types/infant-subconjunctival-hemorrhage/ https://www.aao.org/eye-health/diseases/what-is-pseudostrabismus https://www.aao.org/education/editors-choice/conservative-measures-appear-sufficient-in-cases-o https://www.cdc.gov/ncbddd/birthdefects/anophthalmia-microphthalmia.html https://macs.org.uk/about-macs/about-macs-conditions/ https://link.springer.com/chapter/10.1007/978-1-4939-2745-6_61 https://www.clinicalguidelines.scot.nhs.uk/nhsggc-guidelines/nhsggc-guidelines/neonatology/eye-infections-in-the-neonate-ophthalmia-neonatorum-and- the-management-of-systemic-gonococcal-and-chlamydial-infections/ https://med.stanford.edu/newborns/professional-education/photo-gallery/nose.html#dislocated_nasalseptum https://www.docplexus.com/posts/neonatal-conjunctivitis-an-update https://med.stanford.edu/newborns/professional-education/photo-gallery/mouth.html https://radiopaedia.org/cases/fibromatosis-colli-24 https://dontforgetthebubbles.com/a-pair-of-palsies/A [Quick] Picture Bibliography 4 of 4 Sources of images,in [rough] order of appearance… https://nfsus.org/is-syndactyly-genetic/ https://www.nationwidechildrens.org/conditions/syndactyly https://www.researchgate.net/figure/A-right-eccentric-dimple-that-occurs-outside-of-the_fig6_50249965 https://accessmedicine.mhmedical.com/content.aspx?bookid=2969&sectionid=250460144 https://www.sciencedirect.com/science/article/abs/pii/S088259631400308X https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects https://www.semanticscholar.org/paper/Surgical-Management-of-Inguinal-Hernia-in-a-Newborn-Ayd%C4%B1n- Ayan/f6ce5d124e6db6377f53a33532e803233544dae9 https://flo.health/being-a-mom/your-baby/baby-health-and-safety/umbilical-hernia https://www.childrensmercy.org/health-care-providers/refer-or-manage-a-patient/connect-with-childrens-mercy/newsletter-the-link/whats-the-diagnosis- august-2021/ https://link.springer.com/chapter/10.1007/978-3-319-62383-2_26 https://www.facebook.com/BirthAndBeyondTanzania/photos/umbilical-granulomayesterday-i-saw-a-little-patient-with-an-umbilical-granuloma- /147526492100923/ https://bestpractice.bmj.com/topics/en-gb/868 https://www.perthpaediatrics.com.au/hypospadias/ https://www.ncbi.nlm.nih.gov/books/NBK482122/figure/article-23294.image.f2/ http://www.myhealth.gov.my/en/ambiguous-genitalia-2/ https://link.springer.com/chapter/10.1007/978-3-030-83305-3_14 https://www.perinatology.theclinics.com/article/S0095-5108%2812%2900017-6/pdf https://kidshealth.org/en/parents/ddh.html https://medical-dictionary.thefreedictionary.com/talipesesMy NextT alks… The Crying Baby and Outcomes of Prematurity th Both on 19 Februar,starting at 19:30 Sign-up on MedAll