Transcript 2009 LMCC Review Revised April 2009(Dr. Nair) 2010

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:
•
•
•
•
•
•
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
•
•
•
•
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
•
•
•
•
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 autosomal chr. Abnormality
•1/600-800 births: Increases with mat. age
Features include:
• Hypotonia
• Low IQ (most are mildmoderate MR)
• Flat occiput
• Microcephaly
• Epicanthal folds
• Brushfields spots
• Simian crease
• Freq. OM/sinusitis/ NLD
obstruction ( mid-face
hypoplasia)
• Congenital heart disease
(50%)AA instability
• Obstructive sleep apnea
• Hypothyroid
• Hearing loss
• Increased risk ALL &
early Alzheimer's
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
• X-linked: 1/1000
• MR
• Large head, long face, prominent jaw and
ears
• Macro-orchidism
• Females show varying degress of MR
Williams Syndrome
•
•
•
•
•
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
DiGeorge or Velocardiofacial
• Catch 22 Syndrome ( Cardiac, Abnormal facies,
Thymic, Cleft palate, Hypocalcemia)
• Chr 22 deletion
– Hypoplasia or agenesis of thymus and parathyroid
glands
– Hypoplasia or auricle and external auditory canal
– Conotruncal cardiac anomalies
– Short stature
– Behavioral difficulties and developmental delay
Other Deletion Syndromes
• Prader Willi (deln. in paternal chr. 15)
•
•
•
•
•
Hypotonia at birth with FTT
Obesity and short stature (GH responsive)
Almond shaped eyes
Small hands/feet and hypogonadism
Mild mental retardation
• Angelman (deln in maternal chr 15)
•
•
•
•
“Happy Puppet”
Hypotonia
Fair hair, midface hypoplasia, prognathism
Jerky ataxic movements,seizures, uncontrollable bouts of
laughter, and severe MR
Noonans Syndrome
• Can be AD transmission
• Low set ears, down-slanting palpebral
fissures, webbed neck
• Cardiac anomalies: commonly pulmonary
outflow tract and arrhythmias
• Short stature
• 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
•
•
•
•
•
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
–
–
–
–
Vertebral defects
Imperforate Anus
Cardiac
Tracheoesophageal
fistula
– Radial and renal
– Limb anomalies
• VATER excludes
cardiac and limb
anomalies
• CHARGE Association
–
–
–
–
–
–
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
–
–
–
–
–
–
Skin lesions include:
Ash leaf spots
shagreen patch
Adenoma sebacum
Café au lait
Periungal fibromas
• Other associations include:
–
–
–
–
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
• Common 4-5%( OM, Gastro,URTI,
Roseola)
• 6 months - 5 years
• Generalized tonic-clonic seizure without
aura
• Brief ‹ 15 minutes
• 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% in general population
• Treatment (not so effective!)
– antipyretic measures
• acetaminophen
• sponging with tepid water
• anticonvulsant therapy in rare instances
Breathholding Spells
(Cyanotic)
•
•
•
•
•
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
•
•
•
•
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
Valium
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
•
•
•
•
Chronic and recurrent
No prodromes
Diffuse bandlike, tight
Sometimes associated with depression/anxiety, problems at
school or at home
• Vascular/ Migraine
•
•
•
•
•
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 intermittemt 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 abnormailties
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)
BEHAVIOUR
• Must have an understanding of normal behaviour
to understand variations
• Biological and psychosocial factors influence
behaviour
• Children’s behaviour is multifactorial and depends
on:
–
–
–
–
–
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:
–
–
–
–
Competence
Self control
Self direction
Caring
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:
–
–
–
–
Swaddling
Thumb/pacifier
White noise
Vestibular stimulation
• No proven medical management to date
SUCKING HABITS
• Thumbsucking 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:
–
–
–
–
–
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
•
•
•
•
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
•
•
•
•
•
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:
• When he is not able to do something he wants
• When he is asked to do something he doesn’t want
to do
• Doesn’t understand what he is being asked to do
• When he wants attention
• Needs to get rid of anger/tension
• Is hungry, tired, ill, or uncomfortable
TEMPER TANTRUMS: HOW DO WE
PREVENT?
•
•
•
•
•
•
•
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 toiletting)
– Suffers frequent headaches or stomach aches
– Displays persistent negative mood ?
depression
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
– Alpha adrenergics (Clonidine)
– Atypical antipsychotics(Risperdal)
– Newer nonstimulant medications (Strattera)
– Antidepressants (TCA)
• Note: all above have associated side
effects/warnings
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)
• Sequence of development is generally
similar but the rate of progress varies
• Velocity and quality of progress can be
modulated by extrinsic factors
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
**Cognition and Problem solving abilities
Developmental Disability
• A mental, physical or emotional condition that
has a substantial effect on everyday functioning
(I.e., self-care, receptive & expressive language,
learning, mobility, self-direction, independent
living, economic self-sufficiency)
• 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
Autism
Autism spectrum disorders
Severe hearing impairment
Severe visual impairment
3-20
2-4
3-5
2-4
~6
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 is the term given to older kids (IQ
testing is more valid and reliable)
Developmental Delay
• Developmental surveillance is necessary
to identify those children with
developmental delay….
BECAUSE
Early Identification = Early Intervention
Early intervention leads to
•
•
•
•
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
Unfortunately
Many children do not receive services early in
life . . .
Mean age of Dx of:
• MR
33.7 months
• Language delay
38.0 months
• Hearing impairment
2-2.5 years
• CP
14.0 months
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
Principles of Development
•
•
•
•
•
Variations of normal or RED FLAGS
Quality vs. quantity
Progress vs. regression vs. plateau
Isolated delay vs. global delay
Delay in one developmental domain may
impair development in another (ie)
• Deficits in one domain may impair another
domain
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
• Children with motor deficits are not
necessarily cognitively delayed. e.g.
Severe CP non-ambulatory may be
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
•
•
•
•
•
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
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 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 Development
• 18 months: 4 cube tower/vertical stroke
• 24 months: imitates O and horizontal line
• 3 years: strings small beads/cuts side to
side
• 4 years: copies square, ties knot, cuts O
• 5 years: copies triangle
• 6 years: copies diamond
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 (next is pblm solving)
• 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 MR present with language
delay
Pre-Language Skills
•
•
•
•
•
Intent to communicate
Eye contact
Motor imitation
Turn taking ability
Joint attention
Why Does a Child Communicate?
•
•
•
•
•
•
To connect socially
To get attention/something
To copy you
To tell something
To show feelings
To get information
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 word vocabulary and 2 word
phrases
• 3 years: 250 word vocab, 3 word phrases,
plurals and possessives, understands
prepositions
• 4 years: 4-5 word phrases, tells stories, asks
meanings of words, rote counts to 20, follows 3
step commands, action words
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/Adaptive Skills
• 6 months: hands on bottle
• 12 mos: finger feeds, hat off
• 18 mos: messy spoon use, removes simple
garments
• 24 mos: pulls off pants, sucks thru straw
• 36 mos: independent eating, day trained
• 48 mos: buttons, self care for toiletting and
washing
• 5 years: bathes independently
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
– Dyskinetic
– Ataxic
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
•
•
•
•
Condition affecting 1/110-1/160 people
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
• DSM IV Umbrella term encompassing:
– AUTISM
– PERVASIVE DEVELOPMENTAL DISORDER
NOT OTHERWISE SPECIFIED (PDD-NOS)
– ASPERGERS SYNDROME
• Currently classification also includes:
– Retts Syndrome
– Childhood Disintegrative Disorder
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.
AUTISM DIAGNOSIS
• Clinical diagnosis based on DSM IV
criteria
• Screening tools available to id kids at risk
(M-CHAT)
• Diagnosis requires more standardized
assessment (ie ADOS, CARS)
AUTISM SPECTRUM DISORDER:
ASSOCIATED CONDITIONS
• Mental retardation: 60%
• Epilepsy: 23-30 % (vs 0.5% in gen. public)
• 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)
AUTISM TREATMENTS
• No known treatments at this time
• Goal is for early id to access early
intervention (PT, SLP, OT, Behavior)
• Treatment of most benefit at this time felt
to be Applied Behavioral Analysis (ABA)
• ABA is:
• Very costly
• Not easily available in public sector (long wait lists)
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
– Wt, length and HC
– 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
MANAGEMENT
• Role of genetics
– With newer genetic testing modalities
available, many can be diagnosed with
genetic differences
– Question is whether this gives any extra info
of how to manage?
– A number of children still will have no etiology
found to explain their differences
INVESTIGATIONS:Value of Etiological
Diagnosis
• Specific treatment implications
• Ongoing medical management of
associated conditions
• Prognostic implications
• Assessment of recurrence risk/counselling
• Limits further unnecessary testing
INVESTIGATIONS: Drawbacks of
Etiological Search
• Many disorders have no specific treatment
• Enormous individual variation/prognostic
uncertainty of rare disorders
• Often more of interest to medical staff than
families
• Costs of testing: $$, pain, sedation
Investigation of Children with
Developmental Delay
• No Rules or Algorithms!
• All children with DD should have vision
and hearing testing
• Rest of investigations including Genetic
testing, Metabolic testing, EEG and
Neuroimaging dependent on History or
physical examination
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.
Good Luck !!!!!