Major impairments/disabilities that can
be detected at birth and early infancy.
Dr Ingrid Bucens
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.
Why some babies have disabilities.
Pregnancy
-Embryogenesis
-Fetal development.
Baby has clinical
abnormality AT
BIRTH
Perinatal
insult
Baby ‘normal’ at birth
Defect becomes apparent
later
Postnatal
insult
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
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
Clinical signs of disability which are
detectable at birth
Pregnancy
-Embryogenesis
-Fetal development.
Clinical abnormality AT BIRTH
1. PHYSICAL BIRTH DEFECTS
OR
Perinatal
insult
2. NEURODEVELOPMENTAL
ABNORMALITIES
• 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
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.
Head
• Head size
– Macrocephaly
• hydrocephalus
– Microcephaly
• Fontanelles
– Absent/ small
– Big
• hypothyroidism
Relative microcephaly
Dysmorphology
• Recognisable syndromes
– TRISOMIES
– FETAL ALCOHOL SYNDROME
– CHARGE etc
• ‘Minor’ dysmorphisms
FAS
NOT ALL DYSMORPHISMS OR BIRTH DEFECTS MEAN DEVELOPMENTAL DISABILITY!
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.
Skin
• Neurocutaneous syndromes
– Sturge Weber
– Others where there is loss of pigment
• Abnormalities over sacral area may be
associated with underlying neural tube.
defects
Eyes + skin + head …
• Congenital infections
– Rubella
– Toxoplasmosis
– Herpes, varicella
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.
Early infancy.
Pregnancy
Something
happenned
-Embryogenesis
during
-Fetal
development.
gestation
Baby ‘normal’ at birth
Defect apparent later
1. PHYSICAL DEFECT
2. NEURODEVELOPMENTAL
ABNORMALITY
Perinatal
insult
Postnatal insult
- Trauma
- Infection
- Hypoxia
By infancy, a greater number and variety of conditions
can be detected clinically.
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
Head growth
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
What can’t be clinically recognised at
birth or in early infancy?
• Cerebral Palsy?
• Degenerative and
progressive disorders
(neuromuscular,
metabolic) which
present only later
How is disability recognised at birth
and in early infancy?
• Detect a physical,
developmental or
functional abnormality by
• SCREENING (clinical or
investigations) detects
an abnormality before
clinically apparent
– HISTORY
– EXAMINATION
OR
• Confirm by specialist
opinion and
INVESTIGATION where
possible.
– Antenatal (US)
– Newborn (NBS, ABR)
– Postnatal (development
check, hearing)
• Populations
• At-risk (family history)
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).
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
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)
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
Neurological examination
Observation + knowing what is normal + experience.
Doing?
Not doing?
Look at lots of babies
Know key developmental milestones
• General points
– Confidence of examiner
– Cooperation of the baby
– Technique relies heavily on opportunistic observation
– Helps if baby awake and in a good mood!
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
Primitive reflexes
When primitive reflexes persist longer than
they should, the baby may have a neurodevelopmental problem.
Reflex
Normally disappeared by
Stepping
6 weeks
Placing
6 weeks
Moro
3 mths
Rooting / sucking
4mths awake, 7mths asleep
Palmar grasp
6 mths
Tonic neck reflex (appears at 2mth)
6 mths
Plantar grasp
10 mths
http://newborns.stanford.edu/PhotoGallery/StepReflex1.html
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
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
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.
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
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)
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 antiabortion
• 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
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
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?
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
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
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 neurodevelopmental delay.
• Maximising recognition of cases of disability
requires a systematic clinical approach and a
knowledge of normal development processes.
• ‘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.
SCREENING TESTS
0
Risk
factors
GM
FM
Lang
Social
Vision
Hearing
1
2
3
4
5
6
7
8
9
10
11
12