Presentation on theme: "Major impairments/disabilities that can be detected at birth and early infancy. Dr Ingrid Bucens Everyone here is aware that a wide array of disorders."— Presentation transcript:
1 Major impairments/disabilities that can be detected at birth and early infancy. Dr Ingrid BucensEveryone here is aware that a wide array of disorders of the body and brain can cause disability in children some of which we touched on in yesterday’s presentations on NBR and MN
2 Content Recognising disability in birth/early infancy. What can be recognised in these periodsWhat cannot be recognisedDiagnosing disability at birth / early infancy.How it is doneBarriersDoes it matter?Program considerations for low resource contexts.We will focus today on those that can be detected at birth or, a little later, in early infancy. Look at each in turn.Make it easier I am just going to use the one word disability …
3 Why some babies have disabilities. PregnancyEmbryogenesisFetal development.Baby ‘normal’ at birthDefect becomes apparent laterBaby has clinical abnormality AT BIRTHPerinatal insultOpen with this schematic figure – basis for what follows – illustrates 2 key points.1. Of the babies / infants who have disabilities, some occur because something has gone wrong during Embryogenesis or later fetal development. Others suffer disability due to something goes awry during birth and others still suffer an insult of some sort sometime after birth.2. Some babies who had something go wrong during gestation / birth are abnormal at birth. Others appear normal at birth and the abnormality / disability only becomes apparent later. The most obvious example of this is cerebral palsy.Postnatal insult
4 Causes of conditions that result in disabilities that may be clinically detected at birth/early infancy.Gestational ‘problem’Genetic / chromosomalSyndromes, malformations, metabolic, neuromuscularToxins (alcohol, Xray, drugs)Endocrine (diabetes)Deficiencies (iodine, folate)AsphyxiaInfections(TORCH, HIV, etc)UNDEFINED PROBLEMPerinatal insultInfectionAsphyxiaPhysical birth traumaPostnatal insultsTraumaHypoxiaMalnutritionMilieu of povertyThis next slide is a list of major causes / classification of conditions which results in disabilities ……..Not an exhaustive list and have not made any attempt to individually list many individual diseases or diagnosis within each subgroup. We would be here all day.Asphyxia is a huge group of conditions related to the baby / cord / uterine environment as well as maternal vascular/cardio-respiratory/haematol conditionsUndefined problem is quite a large group
5 Newborn brain is immature Why are many conditions that lead to disability not recognisable at birth/early infancy?Newborn brain is immatureNeurons all there but branching, myelination, complexity is incompleteLimited neurological development = limited developmental capacityThey don’t do much, so not possible to assess a lot about brain function at birthSome with MAJOR structural abnormalities appear to function normallySome conditions are progressive / degenerativeWhat is the reason for that 2nd point, that …..MANY of the causes of DISABILITY are RECOGNISABLE ONLY BY DEVEL DELAY/NEURO ABNAnd these conditions are not very often recognisable very early on.functions are largely ‘subcortical’ - cant assess cortical function reliablyMore exaggerated in pretermsExtreme caution must be used in making developmental predictions about babies who are known to have had a potentially serious brain injury yet who appear to be normal at birth. ASPHYXIA or IVH.
6 Clinical signs of disability which are detectable at birth PregnancyEmbryogenesisFetal development.Clinical abnormality AT BIRTHPHYSICAL BIRTH DEFECTSORNEURODEVELOPMENTAL ABNORMALITIESPerinatal insultBUT , SOME CONDITIONS ARE RECOGNISABLE EARLY
7 PHYSICAL ABNORMALITIES / DEFECTS Gross birth defectsHead or backDysmorphology: syndromes, sequencesOcular abnormalitiesBirthmarksNEURO-DEVELOPMENTAL ABNORMALITIESAbsence of expected neurological functionsPresence of abnormal neurological activityMORE SPECIFICALLYNow look at examples …
8 Major malformations Of the nervous system Of other systems MyelomeningoceoleEncephalocoeleOf other systemsGenital (renal)GastroschisisMost difficult to missSome are missed because babies are not examined.Back, anusOthers because they are ‘internal’ or ‘invisible’.Cardiac, renal, lungAssociations with other abnormalities, including the brain.Malformations and defects, including those on this and the following slides, are OFTEN associated with neurodevelopmental disability. The disability will be confirmed by further clinical examination, referral-investigation if available and, if not like other disabilities will become apparent with time.Easy ones ….. Obvious associationsNot all so easy as even some externally obvious malformations like imperforate anus are missed because no-one looks
9 Head Head size Fontanelles Macrocephaly Microcephaly Absent/ small Big hydrocephalusMicrocephalyFontanellesAbsent/ smallBighypothyroidismBig heads (often due to hydrocephalus but more rarely due to other structural problems of the brain).Small heads – usually a BAD PROGNOSTIC SIGN – especially if it is out of proportion with the rest of the baby’s growth (length, weight)May have fused cranial sutures and no or very small fontanellesAbnormalities of head shape are also often present however rarely a serious problem or of much functional significance
10 Relative microcephaly Abnormalities of head size, both big and small, may be missed at birth especially if head circumference is not charted3 growth charts – head, length, weightRelative microcephaly
11 Dysmorphology Recognisable syndromes ‘Minor’ dysmorphisms TRISOMIES FETAL ALCOHOL SYNDROMECHARGE etc‘Minor’ dysmorphismsExternal signs that something is wrong with the chromosomes – many chromosomal abnormalities or sequences of abnormalities are associated with developmental disabilities of varying severitySome syndromes may be obvious, depending on how extreme the features. Others much more subtle – quite some expertise to confidently recognise them.+/- Associated malformations, +/- neurodevelopmental abnormalities at birth (Downs floppy) or just reduced cognitive function not yet apparentNOT all congenital malformations however are associated with develpmental defects. Cleft palate for exampleFASNOT ALL DYSMORPHISMS OR BIRTH DEFECTS MEAN DEVELOPMENTAL DISABILITY!
12 Abnormalities of eyes and ears Ocular abnormalities may signify congenital blindness or may be a serious threat to vision if not treated expediently.CataractsWhite pupilsMicrophthalmiaetcSome external abnormalities of the ear (CHARGE syndrome) are associated with hearing loss.Squint at birth not diagnosable as eyes not fixingMovement disorders…………………….But not all ear abn assocd with disability / deafness and most congenital deafness have normal external ears
13 Skin Neurocutaneous syndromes Sturge WeberOthers where there is loss of pigmentAbnormalities over sacral area may be associated with underlying neural tube. defectsRare conditions present at birth with abnormal birthmarks and associated known developmental disability.The birthmark is present at birth in some of these. Perhaps the most common is the SW syndrome where there is a large vascular lesion on the face with corresponding underlying abnormality of the brain.
14 Eyes + skin + head … Congenital infections Rubella Toxoplasmosis Herpes, varicellaCongenital ‘TORCH’ infections (especially rubella, toxo both common potentially in low resource contexts) are commonly associated with brain or eye or ear and therefore subsequent disabilitiesRashes, jaundice, ocular, microcephaly
15 Conditions that cause NEURODEVELOPMENTAL disability recognisable at birth Conditions which cause a generalised and severe cerebral insult result in overt neurological dysfunction at birth.EncephalopathyHypoxia (BIRTH ASPHYXIA)Severe meningitis / EncephalitisRare severe metabolic diseases (toxins, hypoglycaemia)Massive bleeds (rare except extreme preterms)Present with common ‘non-specific’ clinical signs.Of the group of antenatal and perinatal conditions you saw earlier, those which cause aPhysical exterior of baby appears normal but detectable abnormal neurology / neurodevelopmentallyPresent with common and often non-specific signs …………. Discuss these in detail later
16 Something happenned during gestation Early infancy.PregnancyEmbryogenesisFetal development.Something happenned during gestationBaby ‘normal’ at birthDefect apparent laterPHYSICAL DEFECTNEURODEVELOPMENTAL ABNORMALITYPerinatal insultSeparated to make the points that a greater number and array of causes can be diagnosed with timePartly because some new insults occur postnatallyalso because some hidden until then are then revealed.Again, present with signs either of ….Postnatal insult- Trauma- Infection- HypoxiaBy infancy, a greater number and variety of conditions can be detected clinically.
17 PRESENT in infancy with PHYSICAL ABNORMALITIES Gross birth defects – some present (or are only detected) later‘Storage diseases’ – develop organomegaly and other abnormalities due to deposits in tissues, organs (including the brain)Dysmorphogy – may have become more obviousDown syndrome, FAS, hypothyroidismBirthmarks – may have evolvedHead – abnormal growth reveals a problemExpect physical abnormalities to have presented / been detectable at birthA few moreEither because the defect was originally missed (because no-one did a thorough examination / assessment) or because the abnormality has evolved and become more obvious clinically.Classic
18 Head growthMight have originally thought normal ….
19 PRESENT in infancy WITH NEURODEVELOPMENTAL ABNORMALITIES Neurological dysfunction may appearPrimitive reflexes haven’t abatedSeizures or other abnormal movements may have appeared (‘Infantile spasms’)(abnormal things are happening)Developmental delays become apparent because there are more developmental milestones to compare against.(things that should have happened, but haven’t)Developmental regression = degenerative conditions appearNeuromuscular eg.SMASlow encephalopathy eg. HIVStorage diseasesAs we suggested earlier, more neuro-developmental problems are detected later in infancy c/w at birthMajority of cases of disability that present postnatally present with..Because the brain should have grown, the neurological system should be more mature and complex - the baby should be able to do more.Degenerative diseases generally present with loss of earlier acquired capabilities (or apparent slowing of acquisition --- previously normal rate)
20 What can’t be clinically recognised at birth or in early infancy? Cerebral Palsy?Degenerative and progressive disorders (neuromuscular, metabolic) which present only laterWhat causes of childhood disability ,,,,,Cerebral palsy: A non-progressive disorder of motor function, which may originate during pregnancy, delivery or in the postnatal period.– a common form of disability of multiple aetiologies. An insult has occurred; the central nervous system has been damaged. The defect becomes apparent as a defect in development. The baby fails to acquire expected motor milestones.Generally taught that you cannot make the diagnosis for certain until ‘time’ has passed and it is clear that there is a (primarily) motor deficit and it is clear that it is not a progressive increasing disability.Quasi clinical
21 How is disability recognised at birth and in early infancy? Detect a physical, developmental or functional abnormality byHISTORYEXAMINATIONConfirm by specialist opinion and INVESTIGATION where possible.SCREENING (clinical or investigations) detects an abnormality before clinically apparentAntenatal (US)Newborn (NBS, ABR)Postnatal (development check, hearing)PopulationsAt-risk (family history)ORPatient presents with a ‘disability’ symptom or sign - Health worker confirms by history, examinationActive surveillance for problems whenever a patient presents (History, examination include disability checks)
22 History Screen for risk factors for disability. Including maternal concernsTake a developmental historyscreen for a delay from expected courseAsk mother if she thinks things he/she is ‘the same as the other kids’Always ask a few specific questions to screen for the ‘abnormal things that shouldn’t be happening’ (SEIZURES, funny movements etc).Active surveillance for disability during clinical assessmentBecause infantile development follows a predictable pattern, deviation from the expected pattern of development is a big clue suggesting a possible problem.
23 Historical Risk factors for disability Family history – consanguinity, miscarriages, stillbirths or early deaths, disabilityPregnancy issues – movements, infections, exposures (alcohol, drugs, medications), no antenatal careBirth history – asphyxia, prematurity, skilled assistant?‘1000g, 28 weeks’Neonatal problems – apnoea, jaundice, poor feeding (hypoglycaemia), serious infections (meningitis)Social context (maternal education, depression, stress..)Chronic medical problem (malnutrition, frequent hospitalisation)Accident / traumanot an exhaustive list however covers Main issuesSome are biological, some are environmentalSome exist even before the baby is bornSome risks pose very specific risks for specific disabilities (mat ingestion x substance) or much broader issues – no antenatal care (rubella)Proximal and distal risks
24 Examination TOP-TO-TOE physical Neurological examination Absence of expected functions (movements)Presence of abnormal activity (seizures)Developmental assessmentAbsence of expected functionsPresence of abnormal activity (primitive reflexes)Active surveillance for disability during examination includes 3 components
25 TOP-TO-TOE physical Head Circumference (plot it)FontanelleSuturesDysmorphism (face – eyes, ears, hands, feet, neck)EYES (pupils, irises)SkinAbdominal massGenitaliaNeck / backScreening for abnormal morphology and major abnormalitiesWith practice can merge the neurological exam
26 Neurological examination Observation + knowing what is normal + experience.General pointsConfidence of examinerCooperation of the babyTechnique relies heavily on opportunistic observationHelps if baby awake and in a good mood!Doing?Not doing?Look at lots of babiesKnow key developmental milestonesPerforming any exam in kids is stressful if the examiner is not that confident or if the kid is having an off dayasking someone to do a Neurological examination in a baby or an infant can be very daunting if not been trained in how this is done.Neuro exam when most are trained to do by asking x to perform certain tasks – that’s not going to happenDetecting neurological abnormality in kids is basically about- Observation of what the baby IS DOING AND IS NOT DOING + knowing what is normal + experience- Knowing what is normal and experience come from watching what kids do whenever you can and trying to register a few norms- Perfect if you have your own healthy childrenKnowing what’s normal – helped by a few checklists – borrow or develop new
27 Content of neurology ‘top to toe’ ‘Central’‘Peripheral’CORTICAL FUNCTIONInteraction / behaviouralertnessCRANIAL NERVESEyes – pupils, movements, Face symmetrySuck, swallow (?dribble), cry (?hoarse)VISION andHEARINGTONECore, peripheralPOWERMovement against gravityNot grasp reflex!(REFLEXES)PRIMITIVE REFLEXESA few maneuvresFlash-light, bellTendon hammer
28 Primitive reflexesWhen primitive reflexes persist longer than they should, the baby may have a neuro-developmental problem.ReflexNormally disappeared byStepping6 weeksPlacingMoro3 mthsRooting / sucking4mths awake, 7mths asleepPalmar grasp6 mthsTonic neck reflex (appears at 2mth)Plantar grasp10 mthsPrimitive reflexes are reflexes present from birth or that appear soon after birth.Disappear in a predictable order as the baby’s neurological system matures.When they persist longer than normal they suggest a neuro-developmental problemLandau 3m-24mParachute 9m and persistsTNR turn head and SAME SIDE EXTENDSStep – upright incline forward soles feet on ground – stepsPlacing lift and brush back of foot on sthing – flex extendsNECK RIGHTING – BABY TURNS BODY TO DIRECTION HEAD IS TURNED persists to 2yrLandau support prone flying – extends head limbs persist to 2y. Examiner flexes head, baby flex trunk n hipsParachute – fall – extends arms hands fingers – 2yrs
29 Developmental assessment ‘Functional neurology’: what can the baby DO?History – questions (can your baby do …?)Examination – observation – can the baby can do specific things (+/- use prompts)?HOW?Systematic processAssess key milestones in all 4 areas of development (GM, FM, Language, Social)Know what is normal
30 Screening toolsProformas or procedures which cover the various domains of developmentVary in complexity.Some simplified versions incorporated into routine child health checks and recordsWHO New growth charts merged with gross motor milestonesMore complex eg Denver developmental screeningTake longer, training and promptsNo need to memorise everythingStandardise against population norms‘accuracy’ of the test may have been established
31 Typically most ch w severe disabi are picked up outside of screening – screening limited specificity and sensitivity – usu overrefers – because of nospecific cut offs overlap of milestone targetsBecause there is always a variation in normal.
33 NEURODEVELOPMENTAL signs at birth that suggest disability Absence of normal functionsPresence of abnormal eventsRegular breathingSuckingSwallowing (drooling)Blinking to bright lightNormal tone (very floppy)Normal movements (moves very little or 2 sides not equal)ApnoeaLots of hiccoughsStrange cryEyes bizarre positionSeizuresOther strange movementsJerks (myoclonus)JitterinessEyes nystagmus etcMerging neurological and developmental assessments togetherWhat is ‘expected’, and therefore what is ‘abnormal’, depends upon the baby’s age and expected developmental stage.Depends on what should have happened by any particular age.Unless preterm – adjustThese signs do not necessarily always mean there will be permanent neurological disability however if they are present they are very worrying…These babies commonly have more than one of these signs.
34 NEURODEVELOPMENTAL signs in infancy that suggest disability Absence of normalPresence of abnormal3 monthsNot fixing / followingNot smiling to faceNot responding to sound (startle)Not lifting head at all6 monthsNot reaching for thingsNot bringing hands together, hands to feetNot rolling overAny ageAny of the abnormal signs from birthNot movingAsymmetrical movementVery floppy, ‘weak’Stiffness - scissored legs, fisted hands, archingStrange movementsChoreoathetoid, clonusStrange eye movements or position6 monthsSquintPrimitive reflexes not abating
35 Barriers to detection of disability at birth and in early infancy BiologicalThe baby’s immature neurological systemDegenerative disease processes, by definition, appear laterHealth systemHealth workers don’t always make appropriate assessments (attitude, training, resources, workload)We have spoken about how to detect disability and what you may find as evidence of disabilityNot such an easy jobBarriers to this process.Detection of disability at birth and in early infancy is limited by several issuesIt is even more difficult in low resource contexts where additional barriers to detection exits
36 In low resource settings Health system factors - Governments rarely prioritise disabilityHealth workers not trained in assessment for disabilityHealth workers overloaded by other priority issues (curative and preventive)Lack of promotion of disability and servicesLack of screening (antenatal, neonatal) and anti-abortionAdds to the burden…Lack diagnostic facilities (specialised personnel eg genetics, equipment and testing resources)Lack of treatment / rehabilitation options leading to sense of futility amongst health workersLack of accessibilityPriorities in poverty
37 Additional barriers in low resource settings. Community based factorsLate first contact with health systemUnattended births, postnatal careLate presentation for helpRecognition, superstition, rejectionActive discrimination against disabilityShame and fatalism about deformity- lack of recognition of abnormalities / attribute to non-biological cause / treat traditionally
38 Does early recognition matter? Might matter to families to know that their concerns have been justified or that there is a reason …. (?fatalism)Early referral for diagnosisMany diagnostic tests are expensiveEarly referral for treatmentRelatively few conditions are treatable(Investigative screening should only be done for conditions which may be treated)Early intervention – may reduce the impact of impairments.But what if there are no, or only very limited, diagnostic or treatment or rehabilitative services?Human rights issueDoes it just frustrate everyone and use up time and resources which perhaps may be able to be preventing disability indirectly by not distracting from other (child survival) work
39 Health system and Programmatic Considerations Disability is a huge burden for individuals, families and societies in low resource contexts.Prevention more effective than detection and ‘treatment’ options for virtually all causes of disability.Health promotion about preventable causes with serious consequencesFAS, iodine deficiency, folic acid deficiency, rubella etcScreening for high burden diseases with devastating consequences (cost effectiveness, cost, logistics?)Thyroid diseaseSome of these points not directly from this talk but also from earlier presentations…due to the nature of neurological conditions
40 Programmatic Considerations If going to include developmental screeningLimit screening sessions and limit content / complexity of sessionsStepwise addition of prioritiesHearing, vision, thyroid disease etcLimit who you will screen? (?define risk factors )Must be able to link screening to actions (investigations, effective treatments and services)Eg eyesMust integrate into existing MCH contacts for health preventive interventionsDetection but no action is time consuming and possibly futileEI for disabled or for those with risk factors?target groups are: individuals at increased environmental risk, individuals at increased biological risk and individuals with established developmentaldisabilities. An overview (63) and two meta-analyses (64, 65) have yielded a similar pattern indicating important effects of early intervention programmes for children with developmental disabilities and for children at biological risk. Best estimates indicate that early interventionyields an effect size of approximately one-half to three-quarters of a standard deviation. The ability of early intervention programmes to minimize declines indevelopment was also identiﬁed as a signiﬁcant outcome.The long-term value of such programmes has been under debate (69). Ramey and Campbell (66) conclude that optimal and stableeffects require a comprehensive societal change of the conditions of disadvantaged children that goes beyond what can be achieved by a limited early intervention programme.
41 Key messages There are many possible causes of disability in infancy. Many of these are not clinically recognisable at birth as many require recognition of neuro-developmental delay.Maximising recognition of cases of disability requires a systematic clinical approach and a knowledge of normal development processes.
42 ‘Developmental delay’ is not cause specific; determining cause usually requires resources that are not available in low resource contexts.Prevention is more effective than attempting detection and ‘treatment’ for established diseases.Screening and focused early detection strategies are important for the few reversible / treatable conditions.Even in rich contexts, in quite a lot of cases the cause remains undiagnosed
43 SCREENING TESTS 1 2 3 4 5 6 7 8 9 10 11 12 Risk factors GM FM Lang 123456789101112Risk factorsGMFMLangSocialVisionHearingREMOVE THIS SLIDE????The purpose of developmental screening is to identify children in need of further evaluation or guidance procedures. A screening resultdoes not yield an IQ or an equivalent, but only a classiﬁcation of subjects into two broad categories (negative/non-suspect/non-diseased or positive/suspect/diseased). Sensitivity refers to a test’s accuracy in identifying all developmentally delayed cases. Speciﬁcity refers to a test’s accuracy in identifying all of the non-developmentally delayed cases