LMCC REVIEW:
PEDIATRICS PART II
AND DEVELOPMENT PEDIATRICS
Asha Nair, MD, FRCPC
Developmental Pediatrician
CHEO/OCTC
GENETICS
General
• Major anomalies in 3% of nb (CHD, SB, CL)
– recurrence risk is 3-5%
• Minor anomalies in 15% (toes/fingers)
• Mechanisms of anomalies
– Malformations (defect of organ from abN
dev’t process)
– Deformation (abN form,shape or position)
from mechanical forces
– Disruption (defect from extrinsic breakdown
or interference with an original
developmental process)
Dysmorphology (cont.)
• Patterns of malformation include
syndrome, sequence and association
• SYNDROME: a pattern of anomaly due to a
single/specific cause ie Marfan, Down, FAS
• SEQUENCE: an underlying anomaly giving rise to
a cascade of secondary problems ie Pierre Robin
• ASSOCIATION: nonrandom combination of
anomalies that occur together more frequently than
expected by chance ie VACTERL
Teratogens
• Drugs:
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Thalidomide – phocomelia
DES - vaginal adenocarcinoma
Tetracycline - staining of teeth/bone
Retinoic acid - brain/ear/heart
Testosterone – virilization
Alcohol: FAS
• Congenital infections (TORCH, varicella,
parvovirus)
• Metabolic conditions (maternal diabetes, PKU)
Patterns of Inheritance
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Autosomal dominant
Autosomal recessive
X-Linked recessive
Multifactorial
Chromosomal Abnormalities
• Aneuploidy/ Polyploidy: indicates an extra
or missing chromosome
• Trisomies or monosomies
• Abnormalities of Chromosome structure
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Deletions
Translocations
Inversions
Duplications
• Sex Chromosome Anomalies
Down Syndrome
Inheritance
• nondysjunction (Trisomy) ; 95%
• translocation (14/21 or 21/21) = 4 %
• mosaics = 1 %
DOWN SYNDROME
• Most common chromosomal abnormality
• 1/600-1/800 live births (increases with
increasing maternal age)
• Features:
• Flat occiput/brachycephaly, microcephaly
• Epicanthal folds, upslanting palpebral features, Brushfield
spots
• Midface hypoplasia, small low set ears, protruding tongue
• Clinodactyly, wide space between 1 and 2 toe, Simian
Crease
• Generalized hypotonia, intellectual disability
DOWN SYNDROME: Associated
Medical Issues
CNS :
– hypotonia, Intellectual disability
Ophthalmologic:
– cataracts, nasolacrimal duct obstruction, strabismus, refractive
errors
ENT:
– acute and chronic serous OM and hearing loss, chronic sinusitis,
tonsillar and adenoidal hypertrophy
Respiratory:
– OSA, chronic pneumonia
CVS:
– CHD in 50%
DOWN SYNDROME: Associated
Medical Issues
• GI:
– duodenal atresia (double bubble sign), GERD,
Hirshsprungs, constipation, oro-motor issues leading
to aspiration, FTT early on and obesity in older ages.
• MSK:
– joint laxity, atlantoaxial instability
• ENDO:
– hypothyroidism (20%), Type 1 diabetes, Coeliac
disease
• HEME:
– increased risk of leukemia
Turner’s Syndrome
• Incidence 1/2500
– 45 XO (55%)
– mosaicism (25%)
• Clinical features
Birth:
– edema of dorsum of hands and feet
– loose skin folds at nape of neck
– short stature
Turner’s Syndrome
• Clinical features (very large
variability)
•
Childhood:
– low posterior hairline*
– small mandible
- prominent ears
– epicanthal folds
- high arched palate
– broad chest*
-cubitum valgus (incr.
carrying angle)*
– hyperconvex fingernails
– pigmented nevi (  with advancing age)
Turner’s Syndrome
• Associated features
– short stature*
– delayed puberty* secondary to gonadal
dysgenesis
– CVS defects- (Coarct, bicuspid AoV)*
– renal anomalies 50%
– spatial perceptual difficulties
• Increased risk
– hearing loss - autoimmune thyroiditis
– IBD
- GI telangiectasia
Klinefelter Syndrome – 47XXY
Fragile X Syndrome
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X-linked
Most common cause of ID in males
Caused by defect in FMR1 gene of X chromosome
Characteristic features (see diagram)
Also social difficulties and stereotypical movements
(common etiology for 2ary Autism)
• Females show varying degrees of MR and have
less characteristic features
Williams Syndrome
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7q deletion
Round face with full cheeks & lips (elfin facies)
Blue eyes with stellate pattern in iris/strabismus
Calcium disturbances
Cardiac issues: most common is supravalvular
aortic or pulmonary stenosis
• Growth & developmental delays/varying degree
of MR
• Friendly/outgoing personality
22 q.11.2 Deletion Syndrome,
DiGeorge or Velocardiofacial
• Catch 22 Syndrome ( Cardiac, Abnormal facies,
Thymic, Cleft palate, Hypocalcemia)
• Chromosome 22 deletion syndrome
– Hypoplasia or agenesis of thymus and parathyroid
glands (immune and calcium regulation issues)
– Velopharyngeal abnormalities (feeding and speech)
– Hypoplasia of auricle and external auditory canal
– Conotruncal cardiac anomalies
– Behavioral difficulties and developmental delay
Other Deletion Syndromes
• Prader Willi (deletion in paternal chromosome 15)
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Hypotonia at birth with FTT
Obesity and short stature (GH responsive)
Almond shaped eyes
Small hands/feet and hypogonadism
Mild mental retardation
• Angelman (deletion in maternal chromosome 15)
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“Happy Puppet”
Hypotonia
Fair hair, midface hypoplasia, prognathism
Jerky ataxic movements,seizures, uncontrollable bouts of laughter,
and severe MR
Noonans Syndrome
• AD inheritence
• Low set ears, down-slanting palpebral fissures,
hypertelorism, webbed neck
• Cardiac anomalies: pulmonary outflow tract
(pulmonary valve stenosis)
• Short stature, pectus, hypotonia, joint laxity
• Feeding difficulties with excessive vomiting and
FTT
• Features may change with age and become
easier to id
Fetal Alcohol Syndrome
– major and minor components expressed in 12 infants per 1000 live births
– 4-6 drinks/day
– 30-40% of offspring born to heavy drinkers
demonstrated congenital anomalies
Fetal Alcohol Syndrome
• Characteristics
– prenatal onset and persistent growth
deficiency (ht, wt, hc)
– facial anomalies
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short palpebral fissures
epicanthal folds
maxillary hypoplasia
micrognathia
thin upper lip
Fetal Alcohol Syndrome
– cardiac defects especially septal defects
(ASD)
– poor joint mobility
– mental deficiency varying borderline severe
-attention and impulsivity issues (legal pblms)
Fetal Alcohol Effect (FAE)
– varying phenotype, can be subtle
– tend to have CNS effects
Marfan’s Syndrome
• Autosomal dominant 1/20,000
• Manifestations
– tall stature
– extremities extremely long (especially distal
bone)
– spider fingers
– arm span > height
Marfan’s Syndrome
– wrist sign
• thumb and fifth finger overlap when clasped
around the wrist
– Steinberg thumb syndrome
• thumb opposed across palm extends past ulnar
border
– thoracic cage deformity
• pectus, pigeon chest
– hyperextension joints with recurrent
dislocation
Marfan’s Syndrome
– ectopia lentis
• also retinal detachment, myopia,
strabismus
– CVS abnormalities
• aortic root dilatation
• MVP
• Differential diagnosis
– homocystinemia
• MR associated
Associations
• VACTERL
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Vertebral defects
Imperforate Anus
Cardiac
Tracheoesophageal
fistula
– Radial and renal
– Limb anomalies
• VATER excludes
cardiac and limb
anomalies
• CHARGE Association
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Coloboma
Heart disease
Atresia of choanae
Retarded growth
Genital anomalies
Ear anomalies
Neurocutaneous SyndromesNeurofibromatosis
• 50% AD
• Skin lesions include:
– café au lait spots
– Axillary or inguinal freckling
– neurofibromas
• Other lesions include:
– Optic gliomas
– Iris hamartomas (Lisch nodules)
– Osseous lesions ( spheniod dysplasia)
Neurocutaneous SyndromesTuberous Sclerosis
• 30% AD
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Skin lesions include:
Ash leaf spots
shagreen patch
Adenoma sebacum
Café au lait
Periungal fibromas
• Other associations include:
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Infantile spasms
DD and MR
Calcified tubers in brain
Retinal lesions
Neurocutaneous Syndromes
• Sturge Weber (sporadic)
• Skin lesions include: port wine stain inV1, cutaneous
vascular malformations
• Other findings include: sz, glaucoma, hemihypertrophy,
intrecranial AVM/calcifications, MR
• Ataxia Telangectasia (AR)
• Skin findings include: conjunctival and cutaneous
telangectasia, and café au lait spots
• Other findings include: Ataxia , immunodeficiencies and
malignancy
• Incontinentia Pigmenti(XLR)
• Skin lesions include: bullae as neonates, splashes or whorls
of hyperpigmentation
• Other findings include: sz, DD, MR, strabismus
Febrile Seizures
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Common: 4-5%( OM, Gastro,URTI, Roseola)
6 months - 6 years
Simple or Atypical
Simple Febrile Seizure:
• Generalized tonic-clonic seizure with no focality
• Less than 15 minutes
• Occurs once in 24 hour period
• Must have absence of CNS infection/absence of
CNS signs interictally
Febrile Seizures
• positive family history in 60-70%
• 30 % will have recurrence(more common if +
FH, 1st sz < 1yr)
• risk of epilepsy 2%( more common if atypical
features, underlying CNS pathology or + FH
epilepsy)
– versus 0.5-1% in general population
• Treatment
– antipyretic measures
• acetaminophen
• sponging with tepid water
• anticonvulsant therapy in rare instances
Breathholding Spells
(Cyanotic)
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6 months - 4 years
Onset always with crying
Infant stops breathing and becomes deeply cyanotic
Limbs become rigidly extended
If prolonged, LOC occurs with occasional convulsive
jerks
• child becomes limp, resumes breathing
• within seconds is fully alert
Breathholding Spells
• Prognosis
– benign
– disappears spontaneously by school age
– these kids have increased risk of vasovagal
syncope in childhood
Pallid Attacks
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Infantile syncope follows a sudden minor injury
Child starts to cry, turns pale, and LOC
Transient apnea and limpness  rapid recovery
2o to vagal reflex overactivity  marked
transient bradycardia and circulatory impairment
• Benign
• Disappears spontaneously by school age
Night Awakening
Night Terror
Duration
Recall
Consolable
Sleep stage
Treatment
< 5 mins
No
No
IV
None
Nightmare
Short
Yes
Yes
REM
Nil
Headaches
• Not usually psychosomatic in young kids
• detailed hx and pe to R/O severe
pathology including:
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Description
Location
Associated symptoms neuro and systemic
Family history
Emotional /stressors
Vitals
Full neuro exam including CN, fundi, motor, sensory and
DTR)
Headaches- Types
• Tension
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Chronic and recurrent
No prodromes
Diffuse bandlike, tight
Sometimes associated with depression/anxiety, problems at
school or at home
• Vascular/ Migraine
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Acute, paroxysmal, recurrent
Prodromes often present/ certain triggers
Intense, pulsatile, unilateral
Neurological signs are transient
Positive family history
Headaches- Types
• Headaches secondary to increased ICP –
What we worry about!
• Chronic or intermittent but increasing frequency
and severity
• Am headache with vomiting ( often no nausea)
• Deterioration in social, school and academic
prowess
• Physical exam positive for strabismus, visual loss,
poor pupillary response, papilledema, coordination
and gait abnormalities
BEHAVIORAL PROBLEMS
BEHAVIOURA COMMON CONCERN
• Common presenting problem in pediatric
practice (25-50%)
• 90% of moms of 2, 3, & 4 year olds have
“some” concern
• 20% of moms of 4 years olds have major
concerns (most around discipline)
• Parents greatly appreciate help
• Management is often effective and quick
and can prevent serious future problems
BEHAVIOUR
• Biological and psychosocial factors influence
behaviour
• Children’s behaviour is multifactorial and depends
on:
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Temperament
Developmental level
Nature and duration of stress
Past experiences
Coping ability of the family
AGE-RELATED NORMAL
BEHAVIOUR PATTERNS
AGE-RELATED
BEHAVIOUR PATTERNS
• First 4 months: formation of attachment
and crying for needs
• By 4 months: responds to environment
visually and auditorially/social smile
• By 8 months: communicates intentionally
& beginnings of stranger anxiety
• By 12 months: initiates complex
interactions (gestures/vocalizes/points)
AGE-RELATED
BEHAVIOUR PATTERNS
• By 18 months: intentional planning &
exploration
• 2-3 years: creates new feelings, ideas,
and identity (pretend play, “me want”)
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Pleased with new skills (repeats over & over)
Inflexible
Not yet able to reason/plan
Period of negativity
POWER STRUGGLE between self-gratification and
parents expectations
– Conflict over daily routines
AGE-RELATED
BEHAVIOUR PATTERNS
• 3-3.5 years:
– Emotional thinking
– Concept of real vs. non-real
– Complex pretend play
• Preschool years:
– Gradually accepts separation from parents
– Able to delay gratification
– Fears emerge (over reaction, sleep disturbances,
“monsters”)
AGE-RELATED
BEHAVIOUR PATTERNS
• School age:
– Important transition from home and parents
– Needs continuing relationship with caregiver (as a
model for behaviour and limit setting)
– Peer relationships important
• Adolescent:
– Rebellion & search for independence from parents
– Fragility of self-esteem
– Physical appearance/peer acceptance important
DISCIPLINE
• Discipline refers to systems of teaching, learning and
nurturing for child rearing
• Purpose is to teach a child what to do and what NOT to
do (encourage/deter) and to give framework for child to
fit into real world in an effective manner
• Ultimate goal of discipline is to achieve:
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Competence
Self control
Self direction
Caring
• And to give kids skills for promoting a sense of being
lovable and sense of being capable
3 COMPONENTS
OF EFFECTIVE DISCIPLINE
• POSITIVE REINFORCEMENT
• CONSEQUENCES
• POSITIVE PARENT CHILD
RELATIONSHIP
CRYING
• Increase from 2 weeks and peaks at 6-8
weeks usually decreases by 3 months
(with other soothing techniques, cooing)
• Worse in evenings
• Parents are angry, helpless and guilty
• More common in temperamentally difficult
kids
COLIC
• Definition: more than or equal to 3 hrs/day,
more than 3 times a week, before 3
months of age
• No relationship to feeds, constipation,
diarrhea, rash, sex, race, parental factors,
birth order
• Some relation to: allergies, atopy, prenatal
stress (not well studied)
• Usually resolves by 4 months
MANAGEMENT OF CRYING
• Full and thorough physical exam check for family
history of allergy/atopy
• Empathy and ensure good supports
• Education/reassurance
• Teach alternate consoling:
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Swaddling
Thumb/pacifier
White noise
Vestibular stimulation
• No proven medical management to date
SUCKING HABITS
• Thumb sucking begins prenatally with large
individual variation
• Usually for self-consoling and occurs more with
stress, fatigue, boredom
• Peaks: 18-21 months often with associated
transitional object note: bottles are worse with
effects on teeth and calories
MANAGEMENT OF SUCKING HABITS
• Accept as a coping skill and discuss meaning
with parents
• Reduce stress/vulnerable times
• Distract and offer other activity using hands
• Limit pacifier/ bottle
BITING
• Primitive behaviour which has strong responses
• Peaks at 6 months with teeth and 9-12 months
with affection
• At 15-18 months associated with aggression and
will continue at 2 & ½ years if not handled
• Tends to persist if:
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Reinforcement of behaviour
Physical punishment
Sensory deprivation
Language delay
Worse when kids are stressed (Septembers and
Mondays)
BITING: MANAGEMENT
• Clam down everyone involved
• Assess child/parent skills and
environmental stresses
• Prevention by avoiding activities, smaller
groups, more toys
• Teach negotiating skills
• Try time-out
• If persists evaluation of
development/change care setting
HEAD BANGING
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Frontal or parietal on hard surface
Can last minutes to hours
Occurs in 3-15 % normal kids and 3:1 boys
Associated with sleep walking, encopresis, FH of
dyslexia, autism, mental retardation, intense
temper
• No significant injury except cataracts in MR
• Ddx: pain, OM, sensory deprivation, neglect,
CNS disease, abuse
HEAD BANGING: MANAGEMENT
• Clarify parental concerns
• R/O above factors
• Reduce stress and increase holding
• If part of tantrum, manage tantrums
• Medical management of some success in kids
with developmental delay
WHINING
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A form of attention seeking
Avoid by attending appropriately
Prepare for vulnerable times
Do not respond at all OR
State “I don’t listen when you are whining
and respond immediately to improved
tone”
TEMPER TANTRUMS
• Normal part of growing up
• Usually between ages 1-4
• Manifest as: crying/screaming, whining,
thrashing/headbanging, breath holding,
breaking objects, or aggression towards
others
TEMPER TANTRUMS: WHY DO
THEY OCCUR?
•
A child’s way of showing anger frustration:
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When he is not able to do something he wants
When he is asked to do something he doesn’t want
to do
When he doesn’t understand what he is being
asked to do
When he wants attention
When he needs to get rid of anger/tension
When he is hungry, tired, ill, or uncomfortable
TEMPER TANTRUMS: HOW DO WE
PREVENT?
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Give the child toys that are age appropriate
Stick to the child’s daily routine
Set rules and limits and stick to them
Ensure child is getting sleep and eats well
Don’t give kids choices when there are none
Don’t have tantrums of your own (learned)
Avoid situations that you know will cause
WHAT TO DO DURING A TANTRUM
• Stay calm- don’t try to talk sense to the
child
• Don’t give in
• Keep child from getting hurt, harming
others or breaking things
• As much as possible, ignore the tantrum
TANTRUMS: WHEN TO WORRY
– Tantrums continue or get worse after age 4
– Injures self or others
– Destroys things during tantrums
– Has frequent nightmares
– Loses previously acquired skills (ie toileting)
– Suffers frequent headaches or stomach aches
– Displays persistent negative mood ?
depression
TIME OUT
DEFINITION: time away from reinforcement
and attention usually accompanied by
disapproval, loss of freedom and loss of
things they want to do
• Effective from 9 months – 12 years
TIME-OUT
• For young children, don’t over do it (target only
2-3 behaviors). Practice before with very young
kids
• Give 1 warning only and none for aggression
• Give short reason (“No hitting”)
• Must be a non-interesting and non-scary place,
near parent if parent can ignore
• Brief: 1 min/year of age (maximum 10 min)
• If leaves, replace WITHOUT talking and start
time again
• After time out complete, give pos response for
1st good behaviour and do NOT talk about event
TIME-OUT: DISADVANTAGES
• Too many behaviors targeted
• Too much warning (teaches they can at
least misbehave once before time out)
• No instruction given or interaction
continues
• Child enjoys it or acts as though they do
initially
• Lectures continue after over
• Location not appropriate (i.e. TV/toys/other
stimulation)
• Child too strong to restrain
TIME OUT
• When your child is in time out:
– Don’t look at him
– Don’t talk to him or about him
– Don’t act angry
– Remain calm
– Find something to do
– Child should be able to see you
– They should be able to see you are not mad
– They should see what they are missing
Child Development
• Developmental Pediatrics: the study of the
acquisition of functional skills during
childhood
• Looks at variations in the “normal”
sequence or timing of skill acquisition to
identify children with developmental delays
or disabilities
Child Development
• Development in the preschool years is a
continuous and ongoing process that
proceeds in a typical fashion (determined
intrinsically)
• Velocity and quality of progress can be
modulated by extrinsic factors
Developmental Milestones
• Neurodevelopmental sequences organized by
developmental milestones
• Systemic method to observe progress over
time
• Basis of most standardized assessment and
screening tools
Realms of Development
• Gross Motor
• Fine Motor
• Speech and Language (3 components)
• Social/Adaptive/Self Help Skills
Developmental Disabiliies
• Prevalence in Canada (based on US data)
= > 2 million children (when behaviour &
LD included)
• ~ 1 in 6 children
• More common than any chronic disease of
childhood other than asthma or allergic
rhinitis
Developmental disabilities in childhood
prevalence
Low prevalence/
High severity disorders
Cases/1000
population
________________________________________________________________________________________________________________________________-____________
Mental retardation – all degree
Mental retardation – severe
Cerebral palsy
3-20
2-4
3
Autism spectrum disorders
Severe hearing impairment
Severe visual impairment
8-9
1-2
0.3
Developmental disabilities in childhood:
prevalence
High Prevalence/
Low Severity
Cases/1000
population
Speech-language
disorders
Learning disabilities
70
50-100
Medical conditions: prevalence
Cases/1000
population
______________________________________________________________________________________________________________________________
Allergic rhinitis
Asthma
Congenital heart disease
Diabetes mellitus
Sickle cell disease
Kidney transplant
120
50
7.0
1.8
0.5
0.02
Global Developmental Delay
• A subset of developmental disabilities defined as
significant delay (2 SD or more below the mean
on age appropriate testing) in 2 or more of the
developmental domains
• GDD is the term used for kids less than 5 years
• MR (Global Developmental Disability-GDD or
Intellectual Disability-ID) is the term given to
older kids
– IQ testing is more valid and reliable at older ages
Developmental Delay
• Developmental surveillance is necessary
to identify those children with
developmental delay….
BECAUSE
Early Identification = Early Intervention
Early intervention leads to
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•
Higher IQ scores
Better school success
More healthy self-esteem
Better family functioning
and is cost effective – decreasing need for future
special education services
(Guralnick 1997)
To Optimize Function and
Prevent Secondary Disability
DEVELOPMENTAL SCREENING
• Routine screening should be a part of
every single well child visit
• Many screening tools available including:
– Denver
– Ages and Stages
– Rourke Baby record
– Nipissing
– Child development inventory (CDI)
– + many more
Principles of Normal Development
• There is variation of skill acquisition
• Development progresses
– cephalocaudal
– proximal to distal
– gross to fine motor control
• “Primitive reflexes” of newborn period are
lost and give way to “postural reflexes” as
part of normal developmental sequence
TRUNK CONTROL
Principles of Development
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Variations of normal or RED FLAGS
Quality vs. quantity
Progress vs. regression vs. plateau
Isolated delay vs. global delay
Delay/deficits in one developmental
domain may impair development in
another
Quantity vs. Quality
• Quantity (how much) – a child has
acquired a certain skill
• Quality (how they do it) – maturity and
rapidity with which it is done
• Quality is more helpful than quantity
Motor Development
• Gross motor milestones are not indicative of
intellectual competence. e.g. Median age for
walking in severe MR without CP 18 months
• Children with motor deficits are not necessarily
cognitively delayed. e.g. Non ambulatory CP
may have average or above average intellect
(motor milestones are excellent predictor of
motor competence but not predictive of IQ)
• Delays in gross motor function usually present
between 6-18 months (1st area of concern)
Gross Motor Development
Early reflex patterns:
• At birth, neonatal movements include
symmetrical flexions/extensions
• Involuntary reflexes are present and
indicate immature cortical functioning
and provide some protective role
Primitive Reflexes
• Often present at birth and disappear by 46 months of age
• Include:
– Moro
– ATNR (Asymmetric tonic neck reflex)
– Palmar/plantar grasp
– Rooting reflex
– Placing or Stepping reflex
Primitive Reflexes
Moro
– Occurs spontaneously after loud noise
– Sudden symmetric abduction and extension of
arms with extension of the trunk followed by
slower adduction of upper extremities with
crying
– Disappears by 4-6 months due to cortical
maturity
– Important to rule out congenital MSK or nerve
injury
Primitive Reflexes
Asymmetric Tonic Neck Reflex (ATNR):
– Appears at 2-4 weeks and disappears by 6
months
– Limb movements strongly influenced by head
position
– If head directed to one side, gradual
extension towards side head is turned and
flexion of opposite side
– “fencing position”
– ?protective for rolling
Equilibrium and Postural Reflexes
• As cortical functioning in the newborn
improves primitive reflexes are replaced
by those important to maintain posture
and balance (i.e. flexion/extension
become balanced)
• These include:
– Head righting
– Lateral and frontal propping
– Parachute reflex
– These reflexes usually appear at 4-6 months
and persist voluntarily
Postural Reflexes
• Head righting: infant is able to keep
head in midline/vertical position despite
tilting (4m)
• Protective equilibrium: frontal propping
(5-6m), lateral propping (7-8m), and
backward propping (10-12m)
• Parachute reflex:
– Outstretch of both hands and legs when body is
moved headfirst in downward direction
– Demonstrates integrity of sensations and motor
responses of CNS which allow independent sitting
and standing
Early Gross Motor Milestone Normals
• Task
– Sits alone momentarily
– Rolls back to prone
– Sits steady
– Gets to sitting
– Pulls to stand
– Stands alone
– Independent steps
• Age Range
– 4-8 months
– 4-10 months
– 5-9 months
– 6-11 months
– 6-12 months
– 9-16 months
– 9-17 months
Gross Motor Development
• Head and trunk control
– Develops in cephalocaudal direction
– Head control begins in sitting and then in
pull to sit and prone positions
– Trunk controls develops slowly from upper
to lower till child is able to sit unsupported
Gross Motor Development Locomotion
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•
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•
Prone to supine rolling: 3-4 months
Supine to prone rolling: 5-6 months
Early commando crawling 5-6 months
4 point crawling: 6-9 months
Supported standing and cruising: 9-10
months
• Walking independently
Gross Motor Development (cont.)
• Further progression in GM skills occur as there is
improvement in balance and coordination
• The sequence is as follows:
– Running
– Jumping on 2 feet
– Throw ball overhand(2 years)
– Balancing on 1 foot(1sec at 3 years)
– Ride tricycle (3years)
– Hopping (4 years)
– Skipping
– Catch ball (5 years)
Red Flags of Gross Motor Development
• Delay of disappearance of primitive
reflexes or appearance of postural reflexes
• Presence of spontaneous postures
• Abnormal movement patterns (early rolling,
pulling directly to stand, w- sitting, bunnyhopping, persistent toe walking)
• No head control by 3-4 months
• No independent sitting by 8-9 months
• No independent steps by 18 months
Fine Motor Skills
• At birth, neonates hands tightly fisted
• Reflexively grasp at any object in palm
• Cannot release grasp voluntarily
• Normal development leads to voluntary
grasp
Fine Motor Development
•
•
•
•
Loss of palmar grasp at 1 month
UE control proceeds proximal to distal
Hands to midline at 2-3 months
Swipes/bats at objects around midline at 23 months
• Hands more open at 2-3 months (>50% of
time at 3 months)
• Voluntary grasp of objects at 4-5 months
and transfer of objects at 6 months
FINE MOTOR
FINE MOTOR
Fine Motor Development (Cont.)
• After 4-5 months fingers and thumb slowly
begin to function independently
• 5 months rake for small objects
• 7 months radial palmar grasp
• 9 months radial digital grasp
• 10 months inferior pincer grasp
• 10-12 months mature pincer grasp
FINE MOTOR
Fine Motor Development
• Early into the 2nd year, kids use the grasp
to master tools and manipulate objects;
dropping, throwing, stacking, objects in
and out of containers, and mastery of cup
and spoon for eating become important
• Fine motor planning and control also
become more refined: blocks, drawing,
cutting
FINE MOTOR
Red Flags in Fine Motor Development
• Fisting of the hands more than 50% of the
time at 4 months of age
• Not reaching for objects by 6 months
• Not transferring objects by 8 months
• Poorly developed pincer at 15 months
• Hand dominance earlier than 18 months of
age( indicates possible hemiparesis in
contralateral upper limb)
Language Development
Definitions
• Language:
– system of symbolic representation used
to communicate meanings, feelings,
ideas, or intentions
• Speech:
– the expression of language in the “verbal
mode”
Language Development : Epidemiology
• 7-10% of preschool children function below the
norm in some aspect of speech and language
• Boys affected more than girls
• 3-6% have specific disorders of receptive and
expressive language
• 42.5% of young children whose early language
delays have improved later found to have
reading and/or cognitive deficits
Language Development
•
Language delays are the most common
developmental disability
•
Usually timing bias leads to later identification
•
Most difficult area to assess by observation
(requires parental report)
•
Has 3 components:
1. Expressive language
2. Receptive language
3. Articulation
Language Development
• Language development is the best indicator of
future intelligence
• Receptive language is a more important
predictor than expressive language
• Must distinguish between isolated speech delay
and global speech delay
• Most common cause of global speech delay is
cognitive impairment
• Majority of kids with DD present with language
delay
Pre-Language Skills
•
•
•
•
•
Intent to communicate
Eye contact
Motor imitation
Turn taking ability
Joint attention
How Does a Child Communicate?
• Non-verbal
–
–
–
–
–
Eye gaze
Giving
Showing
Pointing
Pulling
• Verbal
–
–
–
–
Noises/vowels/consonants
Sounds for words
1-2 words
phrases
Language Development- Normals
•
•
•
•
•
•
•
•
Social smile: 1 ½ months
Coo: 3 months
Babble: 6 months
Dada non specific: 8 months
Understands “No”/gesture games: 9 mos.
Dada and mama appropriately: 10 months
First word: 11 months
1 step command without gesture: 15 mos.
Language Development: Normals
• 1 year: 1 word
• 18 months: 15-20 words
• 2 years: 50 -100 *word vocabulary and 2
word
phrases
• 3 years: 250 word vocab, 3 word phrases
and plurals
• 4 years: 4-5 word phrases, tells stories,
asks meanings of words, rote counts to 20
Language: Intelligibility
The rule of 4ths of speech ( intelligible to
strangers):
– 2/4 – 50% intelligible at 2 years
– 3/4 - 75 % intelligible at 3 years
– 4/4 – 100% intelligible at 4 years
Red Flags for Language Development
• No babbling by 10-12 months
• No attempt at words at 18 months
• Less than 25-50 words and no
combinations at 2 years
• Not understanding without gesture at 2 yrs
• Not using short sentences or
understanding simples questions at 3 yrs
• Not able to retell a simple story, sing the
ABC’s or having a limited vocab at 4
More Red Flags for Language Development
• Language not used communicatively
• Does not share attention/emotion with eye
gaze and facial expression
• No pointing or communicative gesture by 1
year
• Does not appear to understand words or
commands
SELF HELP SKILLS
• Neonate develops from a fully dependent
being to one who is self sufficient for many
activities of daily living
SELF HELP SKILLS
• 12 MONTHS:
• Drinks well from sippee cup
• Holds spoon @ attempts to feed but very messy
• Helps with dressing by pushing arms/legs through
• 24 MONTHS
• Feeds competently with spoon
• Puts on hats and shoes
SELF HELP SKILLS
SELF HELP SKILLS
• 36 MONTHS
•
•
•
•
Eats with fork and spoon
Can pull pants down and up
Needs help with buttons
Often trained during day
• 48 MONTHS
• Eats well and spreads with knife
• Washed and dries hands/brushes teeth
• Can dress and undress except for laces, ties, and
buttons
SELF HELP SKILLS
CEREBRAL PALSY:DEFINITION
• Disorder of movement & posture resulting
from a permanent non-progressive deficit
or lesion of the immature brain
• Characterized by abnormal muscle tone,
persistence of primitive reflexes, delayed
appearance of postural reflexes and
delayed acquisition of motor milestones
• Occurs in 2/1000 children
CEREBRAL PALSY: ETIOLOGY
• Prenatal: most common type (intrauterine
infection, stroke)
• Perinatal: only about 10% of all cerebral
palsy
• Postnatal: ie meningitis, stroke, hypoxia
CEREBRAL PALSY:
CLASSIFICATION
• Different classification systems used. Most
common one is based on clinical manifestations:
– Spastic (Quad,hemi,diplegia)
– Dyskinetic/athetoid:
– Hypotonic/ataxic
• More recently a functional classification system
is being used: Gross Motor Function
Classification System (GMFCS)
• Age 2
• Levels 1-5 help to predict if patient will be ambulatory or
depend on some sort of assistive device
SPASTIC CEREBRAL PALSY
• Most common type (70-80%)
• Characterized by increased tone and DTR
• Subtype most often associated with
prematurity
• Brain lesion located in the pyramidal tracts
• Subtypes depend on which limbs affected:
– Spastic hemiparesis
– Spastic diplegia
– Spastic quadraparesis
DYSKINETIC CEREBRAL PALSY
• 15-20% of cerebral palsy cases
• Associated with involuntary/dyskinetic
movements, rapid/jerky & slow/writhing
(choroeathetoid) movements **, or
unusual posturing
• Lesion is in extrapyramidal tracts/basal
ganglia
• Tend to be associated with birth hypoxia
or inborn errors of metabolism
ATAXIC CEREBRAL PALSY
• 5% of cerebral palsy cases
• Characterized by problems with balance,
timing, or tremor with voluntary
movements
• Seen in problems with motor control
system (cerebellum) and in a number of
genetic syndromes
CEREBRAL PALSY: ASSOCIATED
MEDICAL CONDITIONS
•
•
•
•
•
•
•
Cognitive impairments: MR or LD
Visual: Strabismus, myopia, ROP
Hearing: increased risk of hearing loss
Seizure disorder
GI: Failure to thrive, GERD, Constipation
Swallowing difficulties/Aspiration risks
MSK: Scoliosis, osteopenia, fractures,
contractures
MENTAL RETARDATION:
DIAGNOSTIC CRITERIA
• Significantly subaverage intellectual functioning
• Deficits or impairments in adaptive functioning in
at least 2 of the following: communication, self
help, home living, social/interpersonal skills,
community resource use, self-direction,
functional academic skills, work, leisure, health
& safety
• Onset before age 18
MENTAL RETARDATION: IQ LEVELS
• Mild MR
• IQ 50-55 to 70
• Moderate MR
• IQ 35-40 to 50-55
• Severe MR
• IQ 20-25 to 35-40
• Profound MR
• IQ below 20-25
AUTISM SPECTRUM DISORDERS
• Increasing prevalence affecting up to
1/110 people (2009 estimates)
• First described in 1943
• Associated with certain genetic syndromes
• Most have no known etiology although
genetics play some role:
– 70% in identical twins vs fraternal
– Siblings have 5-7% risk vs 0.1% in general population
– No link to parenting styles/personalities or nutrition
AUTISM SPECTRUM DISORDERS:
CLASSIFICATION
• ASPERGERS
• PERVASIVE DEVELOPMENTAL
DISORDER NOT OTHERWISE
SPECIFIED (PDD-NOS)
• AUTISM
• DSM 1V also includes Rett’s and
Childhood Disintegrative Disorder
AUTISM SPECTRUM DISORDERS
• Characterized by deficits/difficulties in 3
areas:
– Socialization
– Communication
– Repetitive behaviors/stereotypical
movements
AUTISM SPECTRUM DISORDER: DIAGNOSTIC CRITERIA
•
•
•
•
•
•
•
•
•
•
A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each
from (2) and (3):
(1) qualitative impairment in social interaction, as manifested by at least two of the following:
(a) marked impairment in the use of multiple nonverbal behaviors, such as eye-to- eye gaze,
facial expression, body postures, and gestures to regulate social interaction (b) failure to
develop peer relationships appropriate to developmental level
(c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other
people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
(d) lack of social or emotional reciprocity
(2) qualitative impairments in communication, as manifested by at least one of the following:
(a) delay in, or total lack of, the development of spoken language (not accompanied by an
attempt to compensate through alternative modes of communication such as gesture or
mime) (b) in individuals with adequate speech, marked impairment in the ability to initiate or
sustain a conversation with others
(c) stereotyped and repetitive use of language or idiosyncratic language
(d) lack of varied, spontaneous make-believe play or social imitative play appropriate to
developmental level
(3) restricted, repetitive, and stereotyped patterns of behavior, interests, and activities as
manifested by at least one of the following: (a) encompassing preoccupation with one or
more stereotyped and restricted patterns of interest that is abnormal either in intensity or
focus (b) apparently inflexible adherence to specific, nonfunctional routines or rituals
(c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or
complex whole-body movements)
(d) persistent precoccupation with parts of objects
AUTISM SPECTRUM DISORDER `
• B. Delays or abnormal functioning in at least one of the following
areas, with onset prior to age 3 years: (1) social interaction, (2)
language as used in social communication, or (3) symbolic or
imaginative play. C. The disturbance is not better accounted for by
Rett's disorder or childhood disintegrative disorder.
• 299.80 Pervasive Developmental Disorder, Not Otherwise
Specified
• This category should be used when there is a severe and pervasive
impairment in the development of reciprocal social interaction or
verbal and nonverbal communication skills, or when stereotyped
behavior, interests, and activities are present, but the criteria are not
met for a specific pervasive developmental disorder, schizophrenia,
schizotypal personality disorder, or avoidant personality disorder.
For example, this category includes "atypical autism" --presentations
that do not meet the criteria for autistic disorder because of late age
of onset, atypical symptomatology, or subthreshold symptomatology,
or all of these.
Diagnostic Criteria For Aspergers
Syndrome
•
•
(I) Qualitative impairment in social interaction, as manifested by at least two of the following:
(A) marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial
expression, body posture, and gestures to regulate social interaction
(B) failure to develop peer relationships appropriate to developmental level
(C) a lack of spontaneous seeking to share enjoyment, interest or achievements with other
people, (e.g.. by a lack of showing, bringing, or pointing out objects of interest to other people)
(D) lack of social or emotional reciprocity
•
(II) Restricted repetitive & stereotyped patterns of behavior, interests and activities, as manifested
by at least one of the following:
•
(A) encompassing preoccupation with one or more stereotyped and restricted patterns of interest
that is abnormal either in intensity or focus
(B) apparently inflexible adherence to specific, nonfunctional routines or rituals
(C) stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting, or
complex whole-body movements)
(D) persistent preoccupation with parts of objects
•
(III) The disturbance causes clinically significant impairments in social, occupational, or other
important areas of functioning.
(IV) There is no clinically significant general delay in language (E.G. single words used by age 2
years, communicative phrases used by age 3 years)
(V) There is no clinically significant delay in cognitive development or in the development of ageappropriate self help skills, adaptive behavior (other than in social interaction) and curiosity about
the environment in childhood.
(VI) Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia."
RETTS DISORDER
•
•
•
•
•
•
X-linked neurodevelopmental disorder
Mutation on MECP2 gene
Females> Males
Normal pre and perinatal development
Normal HC at birth and early development
Following period of normal development:
•
•
•
•
Loss of purposeful hand skills
Decelerating HC (5-48 months)
Poorly coordinated gait/trunk movements
Severely impaired expressive and receptive language
development
AUTISM SPECTRUM DISORDER:
ASSOCIATED CONDITIONS
•
•
•
•
•
Mental retardation: 60%
Sleep disturbance
Epilepsy: 23-30 % (vs 0.5% in gen. public)
Feeding/nutritional issues
Behavioral : hyperactivity, inattention, anxiety
aggressiveness, self-injurious behaviors
• Genetic disorders: seen in Tourette’s, Tuberous
Sclerosis and Fragile X Syndrome
AUTISM: MYTHS
• Studies have shown that autism is NOT
caused by MMR vaccine or vaccine
preservatives (ethyl mercury)
• Autism in NOT caused by any particular
parenting style/personality
• There is no proven treatment for autism at
this time (ie gluten or lactose free diet or
vitamin therapy)
Approach to a Child with
Developmental Delay
History
– Prenatal/perinatal
– Past medical history
– Family and social history
Developmental Assessment
– History and milestones
Complete Physical Exam
– Neurological (tone, reflexes/posture)
– Dysmorphic features
MANAGEMENT OF
DEVELOPMENTAL DISABILITIES
• No specific treatments for cure
• Goal is to identify difficulties and initiate
therapies/stimulation programs (ie; PT,
OT, SLP, SW, IDP, Psychology, Behavior)
• Important role also in school preparation/
planning
• Based in history/physical, referrals to other
sub-specialists may be indicated
Investigation of Children with
Developmental Delay
• No Rules or Algorithms!
• All children with DD should have vision
and hearing testing
• New guidelines indicate all children with
DD or ASD should have microarray and
Fragile X testing
• All other investigations including
Metabolic testing, EEG and Neuroimaging
dependent on History or physical
examination
Good Luck !!!!!
ADDENDUM
ADDENDUM: MILESTONES
• 4 MONTHS
– Gross Motor: sits with trunk support, rolls f-b,
no head lag pull to sit
– Fine Motor: hands to midline/mouth, reaches
persistently, plays with rattle
– Language: orients to voice sound, laughs,
vocalizes when alone (vowels)
– Socialization: smiles spontaneously, stops
crying to familiar voice
ADDENDUM: MILESTONES
SIX MONTHS
Gross Motor: sits propped on hands, pivots in
prone, rolls both dxns
Fine Motor: transfers hand-hand, rakes pellets,
holds in 2 hands
Language: responds to name, babbles with
consonants, smiles/vocalized to mirror
Social: recognizes caregiver, stranger anxiety
ADDENDUM: MILESTONES
TWELVE MONTHS
– Gross Motor: Stands and cruises well, posterior protection, walks
with support
– Fine Motor: fine pincer grasp, finger feeds, holds and marks with
crayon, looks at pictures, object permanence
– Language: looks for objects when named, 1 step command
w/gesture, protoimperative pointing, dada/mama and 1 other
word
– Social: joint attention, functional play, lets adult know when
needs help
ADDENDUM:MILESTONES
18 MONTHS
• Gross Motor: walks, stoops and recovers,
early run
• Fine Motor: Scribbles, 3 block tower
• Language: 10-25 word vocabulary, 1-2
body parts
• Social: spoon feeds
ADDENDUM: MILESTONES
TWENTY FOUR MONTHS:
• Gross motor: Runs, climbs, stairs 2 ft/step,
kicks ball, throws overhand
• Fine motor: 8 block tower, horizontal and
vertical line
• Language: 50 word vocabulary, 2 word
phrase, 2 step command, body parts
• Social: Undresses
ADDENDUM: MILESTONES
THIRTY SIX MONTHS:
• Gross motor: Rides tricycle, alternates feet on
stairs
• Fine motor: draws circle, copies bridge with
blocks
• Language: 3 word phrase, colors, gives name,
gender, age and uses pronouns/plurals
• Social: dresses self, advanced imaginary play,
starts to share, toilet trained
ADDENDUM: MILESTONES
FORTY EIGHT MONTHS
• Gross Motor: Balances and hops on 1
foot, gallops, catches ball
• Fine Motor: Copies square, stick figure,
cuts circle, ties single knot
• Language: Counts to 4, tells stories,
opposites
• Social: Group play, preferred best friend.
ADHD
Diagnostic Criteria for ADHD
A. Either (1) or (2):
(1) six (or more) of the following symptoms of inattention
have persisted for at least 6 months to a degree that is
maladaptive and inconsistent with developmental level;
Inattention
a. often fails to give close attention to details or makes
careless mistakes in schoolwork, work, or other
activities
b. often has difficulty sustaining attention in tasks or play
activities
c. often does not seem to listen when spoken to directly
d. often does not follow through on instructions and fails
to finish schoolwork, chores, or duties in the workplace
(not due to oppositional behavior or failure to
understand instructions)
Diagnostic Criteria for ADHD
Inattention (cont.)
e. often has difficulty organizing tasks and activities
f. often avoids, dislikes, or is reluctant to engage in
tasks that require sustained mental effort (such as
schoolwork or homework)
g. often loses things necessary for tasks or activities
(e.g., toys, school assignments, pencils, books, or
tools)
h. is often easily distracted by extraneous stimuli
i. is often forgetful in daily activities
Diagnostic Criteria for ADHD
(2) Six (or more) of the following symptoms of hyperactivity-impulsivity have
persisted for at least 6 months to a degree that is maladaptive and
inconsistent with developmental level:
Hyperactivity
1. often fidgets with hands or
feet or squirms in seat
2. often leaves seat in classroom
or in other situations in which
remaining seated is expected
3. often runs about or climbs
excessively in situations in
which it is inappropriate (in
adolescents or adults, may be
limited to subjective feelings of
restlessness)
4. often has difficulty playing or
engaging in leisure activities
quietly
5. often "on the go" or often acts
as if "driven by a motor"
6. often talks excessively
Impulsivity
1. often blurts out answers before
questions have been
completed
2. often has difficulty awaiting
turn
3. often interrupts or intrudes on
others (e.g., butts into
conversations or games)
Diagnostic Criteria for ADHD
B. Some hyperactive-impulsive or inattentive
symptoms that caused impairment were present
before age 7 years.
C. Some impairment from the symptoms is present in
two or more settings (e.g., at school [or work] and at
home).
D. There must be clear evidence of clinically significant
impairment in social, academic, or occupational
functioning.
E. The symptoms do not occur exclusively during the
course of a Pervasive Developmental Disorder,
Schizophrenia, or other Psychotic Disorder and are
not better accounted for by another mental disorder.
ADHD
• 3-7% of the population
• Male:female ratio is 4:1, females more
difficult to diagnose
• 60% exhibit signs and symptoms into
adulthood
ADHD: COMORBIDITIES
•
•
•
•
•
•
Mood disorders 4%
Tic disorders 11%
Conduct disorders14%
Anxiety disorders 34%
Oppositional defiant disorders 40%
Up to 60% may have associated learning
disabilities
ADHD: DIAGNOSIS
• A clinical diagnosis (needs symptoms in
>1 setting)
• Detailed developmental and symptom
history + use of one of many available
scales (ie Conners, SNAP etc)
• Family history often positive
• Differential diagnosis includes: anxiety,
depression, learning disorder or MR
ADHD: TREATMENT
• Medical treatment is the mainstay – best in
combination with therapy
• Visual and hearing screen to rule out sensory
issues. Psycho-ed testing to id LD
• Need to identify comorbid conditions
(Psychiatry)
• Kids do better with structure/routine at school
and home (predictibility also important)
• Important for families to stay supportive and
involved with school/teachers
ADHD: TREATMENT
• Medication classes include:
– Stimulants
– Antidepressants (TCA)
– Alpha adrenergics (Clonidine)
– Atypical antipsychotics(Risperdal)
– Newer nonstimulant medications (Strattera)