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LMCC REVIEW: PEDIATRICS DEVELOPMENTAL REVIEW

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Title: Introduction To Child Development Author: Garry Last modified by: Faculty of Medicine Created Date: 8/19/2004 2:04:47 AM Document presentation format – PowerPoint PPT presentation

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Title: LMCC REVIEW: PEDIATRICS DEVELOPMENTAL REVIEW


1
LMCC REVIEWPEDIATRICS DEVELOPMENTAL REVIEW
  • Asha Nair, MD, FRCPC
  • Developmental Pediatrician
  • CHEO/OCTC

2
GENETICS
3
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)

4
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

5
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)

6
Patterns of Inheritance
  • Autosomal dominant
  • Autosomal recessive
  • X-Linked recessive
  • Multifactorial

7
Chromosomal Abnormalities
  • Aneuploidy/ Polyploidy indicates an extra or
    missing chromosome
  • Trisomies or monosomies
  • Abnormalities of Chromosome structure
  • Deletions
  • Translocations
  • Inversions
  • Duplications
  • Sex Chromosome Anomalies

8
Down Syndrome
  • Inheritance
  • nondysjunction (Trisomy) 95
  • translocation (14/21 or 21/21) 4
  • mosaics 1

9
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

10
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11
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

12
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)

13
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

14
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15
Klinefelter Syndrome 47XXY
16
Fragile X Syndrome
  • X-linked 1/1000
  • MR
  • Large head, long face, prominent jaw and ears
  • Macro-orchidism
  • Females show varying degress of MR

17
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18
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

19
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20
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

21
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22
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

23
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24
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

25
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

26
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

27
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

28
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29
Marfans Syndrome
  • Autosomal dominant 1/20,000
  • Manifestations
  • tall stature
  • extremities extremely long (especially distal
    bone)
  • spider fingers
  • arm span gt height

30
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

31
Marfans Syndrome
  • ectopia lentis
  • also retinal detachment, myopia, strabismus
  • CVS abnormalities
  • aortic root dilatation
  • MVP
  • Differential diagnosis
  • homocystinemia
  • MR associated

32
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33
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

34
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)

35
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36
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

37
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38
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

39
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40
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

41
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

42
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

43
Breathholding Spells
  • Prognosis
  • benign
  • disappears spontaneously by school age
  • these kids have increased risk of vasovagal
    syncope in childhood

44
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

45
Night Awakening
  • Night Terror Nightmare
  • Duration lt 5 mins Short
  • Recall No Yes
  • Consolable No Yes
  • Sleep stage IV REM
  • Treatment Valium Nil

46
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)

47
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

48
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

49
BEHAVIORAL PROBLEMS
50
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

51
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

52
AGE-RELATED NORMAL BEHAVIOUR PATTERNS
53
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)

54
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

55
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)

56
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

57
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

58
3 COMPONENTS OF EFFECTIVE DISCIPLINE
  • POSITIVE REINFORCEMENT
  • CONSEQUENCES
  • POSITIVE PARENT CHILD RELATIONSHIP

59
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60
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

61
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

62
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63
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

64
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65
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

66
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

67
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68
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)

69
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

70
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

71
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

72
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73
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

74
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75
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

76
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

77
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

78
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

79
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

80
ADHD
81
  • 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)

82
  • 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

83
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)

84
  • 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.

85
ADHD
  • 3-7 of the population
  • Malefemale ratio is 41, females more difficult
    to diagnose
  • 60 exhibit signs and symptoms into adulthood

86
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

87
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

88
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

89
ADHD TREATMENT
  • Medication classes include
  • Stimulants
  • Antidepressants (TCA)
  • Alpha adrenergics (Clonidine)
  • Atypical antipsychotics(Risperdal)
  • Newer nonstimulant medications (Strattera)

90
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91
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

92
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

93
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

94
Realms of Development
  • Gross Motor
  • Fine Motor
  • Speech and Language (3 components)
  • Social/Adaptive/Self Help Skills
  • Cognition and Problem solving abilities

95
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

96
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

97
Developmental disabilities in childhood
prevalence
  • High Prevalence/
  • Low Severity
  • Speech-language
  • disorders
  • Learning disabilities
  • Cases/1000
  • population
  • 70
  • 50-100

98
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

99
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)

100
Developmental Delay
  • Developmental surveillance is necessary to
    identify those children with developmental
    delay.
  • BECAUSE

101
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

102
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

103
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

104
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

105
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

106
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)

107
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

108
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

109
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

110
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111
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

112
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114
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

115
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116
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

117
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

118
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

119
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

120
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)

121
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

122
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

123
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

124
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

127
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

128
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)

129
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

130
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

131
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

132
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

133
Pre-Language Skills
  • Intent to communicate
  • Eye contact
  • Motor imitation
  • Turn taking ability
  • Joint attention

134
Why Does a Child Communicate?
  • To connect socially
  • To get attention/something
  • To copy you
  • To tell something
  • To show feelings
  • To get information

135
How Does a Child Communicate?
  • Non-verbal
  • Eye gaze
  • Giving
  • Showing
  • Pointing
  • Pulling
  • Verbal
  • Noises/vowels/consonants
  • Sounds for words
  • 1-2 words
  • phrases

136
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.

137
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

138
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

139
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

140
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??)

141
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

142
CEREBRAL PALSY ETIOLOGY
  • Prenatal most common type (intrauterine
    infection, stroke)
  • Perinatal only about 10 of all cerebral palsy
  • Postnatal ie meningitis, stroke, hypoxia

143
CEREBRAL PALSY CLASSIFICATION
  • Different classification systems used. Most
    common one is based on clinical manifestations
  • Spastic
  • Dyskinetic
  • Ataxic

144
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

145
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

146
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

147
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

148
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

149
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

150
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

151
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

152
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.

153
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

154
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)

155
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

156
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

157
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

158
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

159
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

160
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

161
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

162
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

163
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

164
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.

165
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