LMCC REVIEW: PEDIATRICS DEVELOPMENTAL REVIEW

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LMCC REVIEWPEDIATRICS DEVELOPMENTAL REVIEW

• Asha Nair, MD, FRCPC
• Developmental Pediatrician
• CHEO/OCTC

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GENETICS
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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 devt
  process)
• Deformation(abN form,shape or position from
  mechanical forces
• Disruption ( defect from extrinsic breakdown or
  interference with an original developmental
  process)

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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

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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)

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Patterns of Inheritance

• Autosomal dominant
• Autosomal recessive
• X-Linked recessive
• Multifactorial

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Chromosomal Abnormalities

• Aneuploidy/ Polyploidy indicates an extra or
  missing chromosome
• Trisomies or monosomies
• Abnormalities of Chromosome structure
• Deletions
• Translocations
• Inversions
• Duplications
• Sex Chromosome Anomalies

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Down Syndrome

• Inheritance
• nondysjunction (Trisomy) 95
• translocation (14/21 or 21/21) 4
• mosaics 1

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Down Syndrome

• Most common autosomal chr. Abnormality
• 1/600-800 births Increases with mat.
  ageFeatures include

• 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

• Hypotonia
• Low IQ (most are mild- moderate MR)
• Flat occiput
• Microcephaly
• Epicanthal folds
• Brushfields spots
• Simian crease

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Turners 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

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Turners 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)

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Turners 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

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Klinefelter Syndrome 47XXY
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Fragile X Syndrome

• X-linked 1/1000
• MR
• Large head, long face, prominent jaw and ears
• Macro-orchidism
• Females show varying degress of MR

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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

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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

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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

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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

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Fetal 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

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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

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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

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Marfans Syndrome

• Autosomal dominant 1/20,000
• Manifestations
• tall stature
• extremities extremely long (especially distal
  bone)
• spider fingers
• arm span gt height

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Marfans 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

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Marfans Syndrome

• ectopia lentis
• also retinal detachment, myopia, strabismus
• CVS abnormalities
• aortic root dilatation
• MVP
• Differential diagnosis
• homocystinemia
• MR associated

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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

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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)

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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

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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

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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

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Febrile Seizures

• positive family history in 60-70
• 30 will have recurrence(more common if FH,
  1st sz lt 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

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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

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Breathholding Spells

• Prognosis
• benign
• disappears spontaneously by school age
• these kids have increased risk of vasovagal
  syncope in childhood

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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

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Night Awakening

• Night Terror Nightmare
• Duration lt 5 mins Short
• Recall No Yes
• Consolable No Yes
• Sleep stage IV REM
• Treatment Valium Nil

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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)

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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

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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

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BEHAVIORAL PROBLEMS
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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

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BEHAVIOUR

• Must have an understanding of normal behaviour to
  understand variations
• Biological and psychosocial factors influence
  behaviour
• Childrens behaviour is multifactorial and
  depends on
• Temperament
• Developmental level
• Nature and duration of stress
• Past experiences
• Coping ability of the family

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AGE-RELATED NORMAL BEHAVIOUR PATTERNS
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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)

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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

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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)

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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

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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

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3 COMPONENTS OF EFFECTIVE DISCIPLINE

• POSITIVE REINFORCEMENT
• CONSEQUENCES
• POSITIVE PARENT CHILD RELATIONSHIP

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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

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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

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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

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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

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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

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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)

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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

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HEAD BANGING

• Frontal or parietal on hard surface
• Can last minutes to hours
• Occurs in 3-15 normal kids and 31 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

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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

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WHINING

• A form of attention seeking
• Avoid by attending appropriately
• Prepare for vulnerable times
• Do not respond at all OR
• State I dont listen when you are whining and
  respond immediately to improved tone

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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

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TEMPER TANTRUMS WHY DO THEY OCCUR?

• A childs way of showing anger frustration
• When he is not able to do something he wants
• When he is asked to do something he doesnt want
  to do
• Doesnt 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

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TEMPER TANTRUMS HOW DO WE PREVENT?

• Give the child toys that are age appropriate
• Stick to the childs daily routine
• Set rules and limits and stick to them
• Ensure child is getting sleep and eats well
• Dont give kids choices when there are none
• Dont have tantrums of your own (learned)
• Avoid situations that you know will cause

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WHAT TO DO DURING A TANTRUM

• Stay calm- dont try to talk sense to the child
• Dont give in
• Keep child from getting hurt, harming others or
  breaking things
• As much as possible, ignore the tantrum

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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

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ADHD
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• 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)

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• 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

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Diagnostic Criteria for ADHD (2) Six (or more) of
the following symptoms of hyperactivity-impulsivit
y have persisted for at least 6 months to a
degree that is maladaptive and inconsistent with
developmental level

• Hyperactivity
• often fidgets with hands or feet or squirms in
  seat
• often leaves seat in classroom or in other
  situations in which remaining seated is expected
• 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)
• often has difficulty playing or engaging in
  leisure activities quietly
• often "on the go" or often acts as if "driven by
  a motor"
• often talks excessively

• Impulsivity
• often blurts out answers before questions have
  been completed
• often has difficulty awaiting turn
• often interrupts or intrudes on others (e.g.,
  butts into conversations or games)

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• 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.

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ADHD

• 3-7 of the population
• Malefemale ratio is 41, females more difficult
  to diagnose
• 60 exhibit signs and symptoms into adulthood

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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

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ADHD DIAGNOSIS

• A clinical diagnosis (needs symptoms in gt1
  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

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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

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ADHD TREATMENT

• Medication classes include
• Stimulants
• Antidepressants (TCA)
• Alpha adrenergics (Clonidine)
• Atypical antipsychotics(Risperdal)
• Newer nonstimulant medications (Strattera)

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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

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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
• Sequence of development is generally similar but
  the rate of progress varies

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Developmental Milestones

• Neurodevelopmental sequences organized by
  developmental milestones
• Systemic method to observe progress over time
• Basis of most standardized assessment and
  screening tools
• Essential to understand normal development
  milestone patterns and variations to recognize
  when there are signs of developmental
  abnormalities

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Realms of Development

• Gross Motor
• Fine Motor
• Speech and Language (3 components)
• Social/Adaptive/Self Help Skills
• Cognition and Problem solving abilities

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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) gt 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

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Developmental disabilities in childhood
prevalence

• Low prevalence/ Cases/1000
• High severity disorders population
• __________________________________________________
  __________________________________________________
  ____________________________-____________
• Mental retardation all degree 3-20
• Mental retardation severe 2-4
• Cerebral palsy 3-5
• Autism 2-4
• Autism spectrum disorders 6
• Severe hearing impairment 1-2
• Severe visual impairment 0.3

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Developmental disabilities in childhood
prevalence

• High Prevalence/
• Low Severity
• Speech-language
• disorders
• Learning disabilities

• Cases/1000
• population
• 70
• 50-100

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Medical conditions prevalence

• Cases/1000
• population
• __________________________________________________
  __________________________________________________
  __________________________
• Allergic rhinitis 120
• Asthma 50
• Congenital heart disease 7.0
• Diabetes mellitus 1.8
• Sickle cell disease 0.5
• Kidney transplant 0.02

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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)

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Developmental Delay

• Developmental surveillance is necessary to
  identify those children with developmental
  delay.
• BECAUSE

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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

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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

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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

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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

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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

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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. 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)

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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)

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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

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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

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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 (gt50 of time at 3
  months)
• Voluntary grasp and release of objects at 4-5
  months

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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

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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

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Fine Motor Development

• Fine motor delays are better and earlier
  indicator of motor disability. e.g. 4 month old
  rolls over (extensor hypertonus in prone hands
  still fisted)
• Hand use for problem-solving (reaching, grasping
  and releasing) indicative of early cognitive
  ability

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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)

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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

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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
  receptive language
• 42.5 of young children whose early language
  delays have improved later found to have reading
  and/or cognitive deficits

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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
• Expressive language
• Receptive language
• Articulation

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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

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Pre-Language Skills

• Intent to communicate
• Eye contact
• Motor imitation
• Turn taking ability
• Joint attention

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Why Does a Child Communicate?

• To connect socially
• To get attention/something
• To copy you
• To tell something
• To show feelings
• To get information

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How Does a Child Communicate?

• Non-verbal
• Eye gaze
• Giving
• Showing
• Pointing
• Pulling
• Verbal
• Noises/vowels/consonants
• Sounds for words
• 1-2 words
• phrases

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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.

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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 and
  plurals
• 4 years 4-5 word phrases, tells stories, asks
  meanings of words, rote counts to 20

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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
• 4/5 100 intelligible at 4 years

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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 ABCs
  or having a limited vocab at 4

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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??)

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CEREBRAL PALSYDEFINITION

• 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

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CEREBRAL PALSY ETIOLOGY

• Prenatal most common type (intrauterine
  infection, stroke)
• Perinatal only about 10 of all cerebral palsy
• Postnatal ie meningitis, stroke, hypoxia

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CEREBRAL PALSY CLASSIFICATION

• Different classification systems used. Most
  common one is based on clinical manifestations
• Spastic
• Dyskinetic
• Ataxic

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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

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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

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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

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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

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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

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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

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AUTISM SPECTRUM DISORDERS

• Uncommon condition affecting 1/1000 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

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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

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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.

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AUTISM SPECTRUM DISORDER ASSOCIATED CONDITIONS

• Mental retardation 60
• Epilepsy 23-30 (vs 0.5 in gen. public)
• Genetic disorders seen in Tourettes, Tuberous
  Sclerosis and Fragile X Syndrome

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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)

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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

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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

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INVESTIGATIONSValue of Etiological Diagnosis

• Specific treatment implications
• Ongoing medical management of associated
  conditions
• Prognostic implications
• Assessment of recurrence risk
• Family counseling
• Limits further unnecessary testing

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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
• False positives and false alarms

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Yield of Search for Etiology

• Highly variable results (10-81)
• Etiology remains unknown in 20 severe MR and 60
  mild MR
• 2002 prospective study of 281 etiological
  diagnosis in 150 (54), 1/3 by hx/exam, 1/3
  because of essential clues from hx/exam, 1/3 by
  lab alone
• 2000 prospective study of 99 etiology in 44, 15
  by history/exam
• 1999 retrospective study of 120 diagnosis in 50,
  25 by history/exam

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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

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ADDENDUMMILESTONES

• 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

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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

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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

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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.

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Good Luck !!!!!