lmcc review: pediatrics part ii and development pediatrics asha nair, md, frcpc developmental...
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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
• Hypotonia• Low IQ (most are mild-
moderate 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
•Most common autosomal chr. Abnormality
•1/600-800 births: Increases with mat. ageFeatures include:
Turner’s SyndromeTurner’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 SyndromeTurner’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 SyndromeFetal Alcohol Syndrome
– major and minor components expressed in 1-2 infants per 1000 live births
– 4-6 drinks/day– 30-40% of offspring born to heavy drinkers
demonstrated congenital anomalies
Fetal Alcohol SyndromeFetal 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 SyndromeFetal 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 SyndromeMarfan’s Syndrome
• Autosomal dominant 1/20,000
• Manifestations– tall stature– extremities extremely long (especially distal
bone)– spider fingers– arm span > height
Marfan’s SyndromeMarfan’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 SyndromeMarfan’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 Syndromes-Neurofibromatosis
• 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 Syndromes-Tuberous 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– 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 SpellsBreathholding 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 Nightmare
Duration < 5 mins Short
Recall No Yes
Consolable No Yes
Sleep stage IV REM
Treatment Valium Nil
Headaches
• Not usually psychosomatic in young kids
• detailed hx and pe to R/O severe pathology including:
– 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
BEHAVIOUR- A 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:– 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”)– 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
• 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:
– 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– 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?
• 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
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
behaviours). 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 behaviours 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/ Cases/1000High severity disorders population________________________________________________________________________________________________________________________________-____________
Mental retardation – all degree 3-20Mental retardation – severe 2-4Cerebral palsy 3
Autism spectrum disorders 8-9Severe hearing impairment 1-2Severe visual impairment 0.3
Developmental disabilities in childhood: prevalence
High Prevalence/
Low Severity
Speech-language
disorders
Learning disabilities
Cases/1000
population
70
50-100
Medical conditions: prevalence
Cases/1000population
______________________________________________________________________________________________________________________________
Allergic rhinitis 120Asthma 50Congenital heart disease 7.0Diabetes mellitus 1.8Sickle cell disease 0.5Kidney transplant 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)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 andPrevent 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
• 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 4-6 months of age
• Include:– Moro– ATNR (Asymmetric tonic neck reflex)– Palmar/plantar grasp– Rooting reflex– Placing or Stepping reflex
Primitive ReflexesMoro
– 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 ReflexesAsymmetric 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, bunny-hopping, 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 2-3 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
DefinitionsDefinitions
• 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 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
(What do the above suggest??)
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
• Moderate MR
• Severe MR
• Profound MR
• IQ 50-55 to 70
• IQ 35-40 to 50-55
• IQ 20-25 to 35-40
• 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.
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 disturbanc• 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 withDevelopmental 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 should have chromosome and Fragile X testing
• All other investigations including Metabolic testing, EEG and Neuroimaging dependent on History or physical examination
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 dxnsFine Motor: transfers hand-hand, rakes pellets, holds in 2 handsLanguage: responds to name, babbles with consonants, smiles/vocalized to mirrorSocial: 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 ADHDA. 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
Hyperactivity1. 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
Impulsivity1. 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(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:
Diagnostic Criteria for ADHDB. 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)
Good Luck !!!!!