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Major impairments/disabilities that can be detected at birth and early infancy. Dr Ingrid Bucens.

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Presentation on theme: "Major impairments/disabilities that can be detected at birth and early infancy. Dr Ingrid Bucens."— Presentation transcript:

1 Major impairments/disabilities that can be detected at birth and early infancy. Dr Ingrid Bucens

2 Content 1.Recognising disability in birth/early infancy. – What can be recognised in these periods – What cannot be recognised 2.Diagnosing disability at birth / early infancy. – How it is done – Barriers 3.Does it matter? 4.Program considerations for low resource contexts.

3 Why some babies have disabilities. Baby has clinical abnormality AT BIRTH Pregnancy -Embryogenesis -Fetal development. Perinatal insult Baby ‘normal’ at birth Defect becomes apparent later 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 – Infection – Trauma – Hypoxia – Malnutrition – Milieu of poverty

5 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

6 Clinical signs of disability which are detectable at birth Clinical abnormality AT BIRTH 1.PHYSICAL BIRTH DEFECTS OR 2.NEURODEVELOPMENTAL ABNORMALITIES Perinatal insult Pregnancy -Embryogenesis -Fetal development.

7 PHYSICAL ABNORMALITIES / DEFECTS – 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

8 Major malformations Of the nervous system – 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.

9 Head Head size – Macrocephaly hydrocephalus – Microcephaly Fontanelles – Absent/ small – Big hypothyroidism

10 Relative microcephaly


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.

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

14 Eyes + skin + head … Congenital infections – Rubella – Toxoplasmosis – Herpes, varicella

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.

16 Early infancy. Something happenned during gestation Perinatal insult Baby ‘normal’ at birth Defect apparent later 1.PHYSICAL DEFECT 2.NEURODEVELOPMENTAL ABNORMALITY Postnatal insult - Trauma - Infection - Hypoxia By infancy, a greater number and variety of conditions can be detected clinically. Pregnancy -Embryogenesis -Fetal development.

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 obvious Down syndrome, FAS, hypothyroidism – Birthmarks – may have evolved – Head – abnormal growth reveals a problem

18 Head growth

19 PRESENT in infancy WITH NEURODEVELOPMENTAL ABNORMALITIES 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

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

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

22 History 1) Screen for risk factors for disability. – Including maternal concerns 2) 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’ 3) Always ask a few specific questions to screen for the ‘abnormal things that shouldn’t be happening’ (SEIZURES, funny movements etc).

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

24 Examination 1.TOP-TO-TOE physical 2.Neurological examination – Absence of expected functions (movements) – Presence of abnormal activity (seizures) 3.Developmental assessment – Absence of expected functions – Presence of abnormal activity (primitive reflexes)

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

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

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

28 Primitive reflexes ReflexNormally disappeared by Stepping6 weeks Placing6 weeks Moro3 mths Rooting / sucking4mths awake, 7mths asleep Palmar grasp6 mths Tonic neck reflex (appears at 2mth)6 mths Plantar grasp10 mths When primitive reflexes persist longer than they should, the baby may have a neuro- developmental problem.

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



33 NEURODEVELOPMENTAL signs at birth that suggest disability Absence of normal functions Regular breathing Sucking Swallowing (drooling) Blinking to bright light Normal tone (very floppy) Normal movements (moves very little or 2 sides not equal) Presence of abnormal events Apnoea Lots of hiccoughs Strange cry Eyes bizarre position Seizures Other strange movements – Jerks (myoclonus) – Jitteriness – Eyes nystagmus etc These babies commonly have more than one of these signs.

34 NEURODEVELOPMENTAL signs in infancy that suggest disability Absence of normal 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 Presence of abnormal 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)

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

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

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?

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

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

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.

43 SCREENING TESTS Risk factors GM FM Lang Social Vision Hearing

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