Presentation is loading. Please wait.

Presentation is loading. Please wait.

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.

Similar presentations

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 Bucens Everyone 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 periods What cannot be recognised Diagnosing disability at birth / early infancy. How it is done Barriers Does 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.
Pregnancy Embryogenesis Fetal development. Baby ‘normal’ at birth Defect becomes apparent later Baby has clinical abnormality AT BIRTH Perinatal insult Open 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 / chromosomal Syndromes, malformations, metabolic, neuromuscular Toxins (alcohol, Xray, drugs) Endocrine (diabetes) Deficiencies (iodine, folate) Asphyxia Infections (TORCH, HIV, etc) UNDEFINED PROBLEM Perinatal insult Infection Asphyxia Physical birth trauma Postnatal insults Trauma Hypoxia Malnutrition Milieu of poverty This 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 conditions Undefined 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 immature Neurons all there but branching, myelination, complexity is incomplete Limited neurological development = limited developmental capacity They don’t do much, so not possible to assess a lot about brain function at birth Some with MAJOR structural abnormalities appear to function normally Some conditions are progressive / degenerative What is the reason for that 2nd point, that ….. MANY of the causes of DISABILITY are RECOGNISABLE ONLY BY DEVEL DELAY/NEURO ABN And these conditions are not very often recognisable very early on. functions are largely ‘subcortical’ - cant assess cortical function reliably More exaggerated in preterms Extreme 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

Gross birth defects Head or back Dysmorphology: syndromes, sequences Ocular abnormalities Birthmarks NEURO-DEVELOPMENTAL ABNORMALITIES Absence of expected neurological functions Presence of abnormal neurological activity MORE SPECIFICALLY Now look at examples …

8 Major malformations Of the nervous system Of other systems
Myelomeningoceole Encephalocoele Of other systems Genital (renal) Gastroschisis Most difficult to miss Some are missed because babies are not examined. Back, anus Others because they are ‘internal’ or ‘invisible’. Cardiac, renal, lung Associations 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 associations Not 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
hydrocephalus Microcephaly Fontanelles Absent/ small Big hypothyroidism Big 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 fontanelles Abnormalities 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 charted 3 growth charts – head, length, weight Relative microcephaly

11 Dysmorphology Recognisable syndromes ‘Minor’ dysmorphisms TRISOMIES
FETAL ALCOHOL SYNDROME CHARGE etc ‘Minor’ dysmorphisms External signs that something is wrong with the chromosomes – many chromosomal abnormalities or sequences of abnormalities are associated with developmental disabilities of varying severity Some 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 apparent NOT all congenital malformations however are associated with develpmental defects. Cleft palate for example FAS NOT 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. Cataracts White pupils Microphthalmia etc Some external abnormalities of the ear (CHARGE syndrome) are associated with hearing loss. Squint at birth not diagnosable as eyes not fixing Movement disorders……………………. But not all ear abn assocd with disability / deafness and most congenital deafness have normal external ears

13 Skin Neurocutaneous syndromes
Sturge Weber Others where there is loss of pigment Abnormalities over sacral area may be associated with underlying neural tube. defects Rare 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, varicella Congenital ‘TORCH’ infections (especially rubella, toxo both common potentially in low resource contexts) are commonly associated with brain or eye or ear and therefore subsequent disabilities Rashes, 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. Encephalopathy Hypoxia (BIRTH ASPHYXIA) Severe meningitis / Encephalitis Rare 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 a Physical exterior of baby appears normal but detectable abnormal neurology / neurodevelopmentally Present with common and often non-specific signs …………. Discuss these in detail later

16 Something happenned during gestation
Early infancy. Pregnancy Embryogenesis Fetal development. Something happenned during gestation Baby ‘normal’ at birth Defect apparent later PHYSICAL DEFECT NEURODEVELOPMENTAL ABNORMALITY Perinatal insult Separated to make the points that a greater number and array of causes can be diagnosed with time Partly because some new insults occur postnatally also because some hidden until then are then revealed. Again, present with signs either of …. Postnatal insult - Trauma - Infection - Hypoxia By infancy, a greater number and variety of conditions can be detected clinically.

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 obvious Down syndrome, FAS, hypothyroidism Birthmarks – may have evolved Head – abnormal growth reveals a problem Expect physical abnormalities to have presented / been detectable at birth A few more Either 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 growth Might have originally thought normal ….

Neurological dysfunction may appear Primitive reflexes haven’t abated Seizures 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 appear Neuromuscular eg.SMA Slow encephalopathy eg. HIV Storage diseases As we suggested earlier, more neuro-developmental problems are detected later in infancy c/w at birth Majority 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 later What 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 by HISTORY EXAMINATION Confirm by specialist opinion and INVESTIGATION where possible. SCREENING (clinical or investigations) detects an abnormality before clinically apparent Antenatal (US) Newborn (NBS, ABR) Postnatal (development check, hearing) Populations At-risk (family history) OR Patient presents with a ‘disability’ symptom or sign - Health worker confirms by history, examination Active surveillance for problems whenever a patient presents (History, examination include disability checks)

22 History Screen for risk factors for disability.
Including maternal concerns Take a developmental history screen for a delay from expected course Ask 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 assessment Because 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, disability Pregnancy issues – movements, infections, exposures (alcohol, drugs, medications), no antenatal care Birth 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 / trauma not an exhaustive list however covers Main issues Some are biological, some are environmental Some exist even before the baby is born Some 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 assessment Absence of expected functions Presence of abnormal activity (primitive reflexes) Active surveillance for disability during examination includes 3 components

25 TOP-TO-TOE physical Head
Circumference (plot it) Fontanelle Sutures Dysmorphism (face – eyes, ears, hands, feet, neck) EYES (pupils, irises) Skin Abdominal mass Genitalia Neck / back Screening for abnormal morphology and major abnormalities With practice can merge the neurological exam

26 Neurological examination
Observation + knowing what is normal + experience. General points Confidence of examiner Cooperation of the baby Technique relies heavily on opportunistic observation Helps if baby awake and in a good mood! Doing? Not doing? Look at lots of babies Know key developmental milestones Performing any exam in kids is stressful if the examiner is not that confident or if the kid is having an off day asking 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 happen Detecting 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 children Knowing what’s normal – helped by a few checklists – borrow or develop new

27 Content of neurology ‘top to toe’
‘Central’ ‘Peripheral’ CORTICAL FUNCTION Interaction / behaviour alertness CRANIAL NERVES Eyes – pupils, movements, Face symmetry Suck, swallow (?dribble), cry (?hoarse) VISION and HEARING TONE Core, peripheral POWER Movement against gravity Not grasp reflex! (REFLEXES) PRIMITIVE REFLEXES A few maneuvres Flash-light, bell Tendon hammer

28 Primitive reflexes When primitive reflexes persist longer than they should, the baby may have a neuro-developmental problem. Reflex Normally disappeared by Stepping 6 weeks Placing Moro 3 mths Rooting / sucking 4mths awake, 7mths asleep Palmar grasp 6 mths Tonic neck reflex (appears at 2mth) Plantar grasp 10 mths Primitive 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 problem Landau 3m-24m Parachute 9m and persists TNR turn head and SAME SIDE EXTENDS Step – upright incline forward soles feet on ground – steps Placing lift and brush back of foot on sthing – flex extends NECK RIGHTING – BABY TURNS BODY TO DIRECTION HEAD IS TURNED persists to 2yr Landau support prone flying – extends head limbs persist to 2y. Examiner flexes head, baby flex trunk n hips Parachute – 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 process Assess key milestones in all 4 areas of development (GM, FM, Language, Social) Know what is normal

30 Screening tools Proformas or procedures which cover the various domains of development Vary in complexity. Some simplified versions incorporated into routine child health checks and records WHO New growth charts merged with gross motor milestones More complex eg Denver developmental screening Take longer, training and prompts No need to memorise everything Standardise 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 targets Because there is always a variation in normal.


33 NEURODEVELOPMENTAL signs at birth that suggest disability
Absence of normal functions Presence of abnormal events Regular breathing Sucking Swallowing (drooling) Blinking to bright light Normal tone (very floppy) Normal movements (moves very little or 2 sides not equal) Apnoea Lots of hiccoughs Strange cry Eyes bizarre position Seizures Other strange movements Jerks (myoclonus) Jitteriness Eyes nystagmus etc Merging neurological and developmental assessments together What 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 – adjust These 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 normal Presence of abnormal 3 months Not fixing / following Not smiling to face Not responding to sound (startle) Not lifting head at all 6 months Not reaching for things Not bringing hands together, hands to feet Not rolling over Any age Any of the abnormal signs from birth Not moving Asymmetrical movement Very floppy, ‘weak’ Stiffness - scissored legs, fisted hands, arching Strange movements Choreoathetoid, clonus Strange eye movements or position 6 months Squint Primitive reflexes not abating

35 Barriers to detection of disability at birth and in early infancy
Biological The baby’s immature neurological system Degenerative disease processes, by definition, appear later Health system Health 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 disability Not such an easy job Barriers to this process. Detection of disability at birth and in early infancy is limited by several issues It 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 disability Health workers not trained in assessment for disability Health workers overloaded by other priority issues (curative and preventive) Lack of promotion of disability and services Lack of screening (antenatal, neonatal) and anti-abortion Adds 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 workers Lack of accessibility Priorities in poverty

37 Additional barriers in low resource settings.
Community based factors Late first contact with health system Unattended births, postnatal care Late presentation for help Recognition, superstition, rejection Active discrimination against disability Shame 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 diagnosis Many diagnostic tests are expensive Early referral for treatment Relatively 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 issue Does 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 consequences FAS, iodine deficiency, folic acid deficiency, rubella etc Screening for high burden diseases with devastating consequences (cost effectiveness, cost, logistics?) Thyroid disease Some 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 screening Limit screening sessions and limit content / complexity of sessions Stepwise addition of priorities Hearing, vision, thyroid disease etc Limit who you will screen? (?define risk factors ) Must be able to link screening to actions (investigations, effective treatments and services) Eg eyes Must integrate into existing MCH contacts for health preventive interventions Detection but no action is time consuming and possibly futile EI 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 developmental disabilities. 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 intervention yields an effect size of approximately one-half to three-quarters of a standard deviation. The ability of early intervention programmes to minimize declines in development 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 stable effects 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
1 2 3 4 5 6 7 8 9 10 11 12 Risk factors GM FM Lang Social Vision Hearing REMOVE THIS SLIDE???? The purpose of developmental screening is to identify children in need of further evaluation or guidance procedures. A screening result does 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

Download ppt "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."

Similar presentations

Ads by Google