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52 Cards in this Set

  • Front
  • Back
NORMAL DEVELOPMENT
Focus on milestones

Development:
Can occur in fits and starts
Can include brief periods of regression
Can be very discouraging for parents
Essential to be able to diff nl from abnl or at least
monitor closely & know when to refer
SCREENING - DEVELOPMENTAL DELAY
AAP Recommends
Developmntl surveillance at every peds visit
Dev Screening
9,18, 30 month visits or at 24 mos if 30 mos
not part of practice.
Parental Concern
ID concern through surveillance
Use of a specific screening tool
No perfect tool
Various considerations
Tools
Parents Evaluation of Developmental Status (PEDS)
Ages & Stages (ASQ)
Language Developmental Screener (LDS)
SCREENING - AUTISTIC SPECTRUM DISORDERS
Use Autism Specific Screening tool
At the 18 and 24 month visits
If ANY parental concerns arise, RED FLAGS
present or sibling with ASD
Tools:
Modified Checklist for Autism in Toddlers (MCHAT)
Other: Checklist for Autism in Toddlers (CHAT), Perva-
sive Developmental Disorders Screening Test II-PCS
(PDDST II PCS)
POSITIVE SCREEN:
Parental Education
Audiology assessment
Refer for general evaluation and service
provision (DO NOT WAIT)
Children < 3: Early Intervention for evaluation and im-
plementation of Individualized Service Plan (IFSP)
Children > 3: Public school system for complete Team
evaluation, creation of an IEP and placement
Refer for diagnostic evaluation:
Developmental Med, Neuro, Psychology, Psychiatry, PT,
OT, Speech for more in-depth assess prn
Initial Diagnosis if comfortable
EARLY INTERVENTION
Children 0-3 delayed or at risk for disabilities
Specifics vary by state
Referrals can be made by:
Parents, peds, or professionals
Includes
Direct services provision
Speech and language therapy, OT, PT, Develop-
mental Therapy
Coordination of resources for children and families
Individuals with Disabilities Education Act (IDEA)
Early ID and referral center
Development of an IFSP
EI services provided in natural environments
Interagency coordinating counsel
LANGUAGE DEVELOPMENT: INFLUENCES ON
Genetic Predisposition
Family Hx of lang delays places child at much
greater risk
Children have differences in their style of acquirg
language
Gender:
Girls progress faster than boys (by 1-2 months)
Boys more likely to develop language disorders
Exposure to Language:
Positive language directed toward the child
Bilingualism:
Language development is NOT delayed, but lange
mixing can occur. A bilingual child who is delayed
needs eval.
SPEECH & LANGUAGE DELAY
Pcp front line to ID
Approx 50 % of those delayed at 2 yo
will be catch up by 3 yo
Better receptive language and pretend play - better prog
Otherwise diff to predict
No agreed upon standard for Lang Delay
1.5 - 2 standard deviations below mean as measured
by standardized instrument
Delay of more than 25 %
When to refer in children less than 2 yo
Parental concern, postive screening test, provider
concern
LANGUAGE DISORDER
Deficit in the comprehension or production of language
that causes clinically sig impairment in functioning
relative to developmental norms and cultural expec
tations.
Refer if a language disorder is suspected or diagnosed
5-8 % of preschool children experience speech-lang
uage delays or disorders
DYSFLUENCY/STUTTERING
Normal onset 2-5 years of age
Educate parents against interrupting, filling in,
offering prompts to the child or providing pressure
to speak
75-80 % will resolve spont in 1-2 years
More likely to persist:
Boys: (3 times greater)
Family Hx
Represents pathology after 5 yrs of age.
DYSFLUENCY/STUTTERING
Criteria for referral:
Child 5 and older
Severe stuttering
Stuttering that does not respond to therapy in 6-8 wks
Child or parental concern
Other sx (repetitive body movements, etc)
Speech:
Articulation of all consonants is not complete until
6 years old
LANGUAGE DELAY: DD
Hearing impairment
<20dB loss**
Impoverished Env
Child abuse, neglect, stress
Neurologic Process
Seizure disorder, neural inj
Neurobiologic process
Specific Language Impairment (SLI), Childhood Apraxia
of Speech, ASD, Intellectual Impairment
Antatomic Abnormality
Cleft lip and palate, oral motor dysfunction
LANGUAGE DELAY - EVALUATION
Audiologic eval
Screening tests
Referral to a Speech and Language Pathologist
Eval dependent on age and abilities
Often more than one visit per assessment is needed
Should include
Parent interview, direct speech and lang testing, play
based assessment in younger child, pragmatic (social)
language
Speech Questionnaires
REEL-3*, Vineland Adaptive Behavior Scales, Rosetti**
Receptive and Expressive Emergent Language 3
Rosetti Infant-Toddler Lang Scale (Birth-3)
AUTISTIC SPECTRUM DISORDERS ASD
Group of neurobiologically based developmental disorders
characterized by the following 3 symptoms
Delay or abnormality in social interaction, language use
for social communication or symbolic or imaginative
play with onset before age 3.
ASD
Qualitative impairment social interactions
Most fundamental, poor nonverbal gestrures, poor peer
relationships, decreased shared enjoyment, joint attn.
ASD
Qualitative Impairment verbal and nonverbal communication
Language delay, poor conversation, atypical speech,
and poor pretend play skills
ASD
Restricted, repetitive and stereotyped patterns of behavior, interests and activities
Preoccupations, inflexibility, stereotyped behaviors
ASD - DSM IV
AD
PDD, NOS
Aspergers Syndrome
Language intact. Cog skills more intact
Childhood Disintegrative Disorder
Retts Disorder
Mostly females, nl dev followed by decline between
6 and 18 months. Hand wringing noted
ASD (proposed DSM V)
ASD
Mild
Mod
Severe
Profound
ASD
Severity of sx vary by child

Presentation multifactorial
Severity of sx
Age
Language skills
Cognitive level
Temperament
Co-morbidities
ASD RED FLAGS
No babbling by 12 months *
No gestures by 12 months (pointing, waving bye-bye)*
No single words by 16 months*
No two spontaneous words (not echolalic) by 24 months*
Loss of language or social skills at ANY time*
Lack of response to speech, echoing
Poor eye contact
Delayed or unusual play skills

*Most Concerning
DDs of ASDs
Global Dev Delay/Intellectual Dis
Social skills should be commensurate with intell functioning

Hearing Loss
Child may not respond to name and have Lang del
but should have compensatory strategies
Speech and Language Delay/ Language Disorder
Speech and play will be impacted but child should be
social and communicative
Trauma
Trauma or abuse hx
CAUSES OF AUTISM
Highly heritable neurodevelopmental disorder
Complex Multifactoral etiology:
Multigenetic-90% concordance rates in ID twins
Env insults potentially via impact on fetal brain
development
In utero insults (maternal infections) immunologic factors
Neurochemical factors, parental age (advanced paternal
or maternal age)
Majority of cases no specific etiology is found
Small number of cases medical etiol identified: genetic
disorder, metabolic disorder, infections, seizures, etc
ASD TREATMENT ***
Early and Intensive targeted BEHAVIORAL interventions
result in the most substantial improvements
No specific medical tx
treat comorbidities - seizures, etc
perform genetic testing
RECOMMEND * CGH/chromosomal microarray, Fragile X
(boys and girls)
Other: PTEN, Rett's, Syndrome specific

Behavioral Interventions
ABA, Floortime, social groups etc. (videos found at
www.autismspeaks.org)

Medication for Symptom Management
Attention, Hyperactivity, Impulsivity - Stimulant
Anxiety/Obsessions - SSRIs
Repetitive Behaviors - SSRIs, Atypical Antipsychotics
Aggression, Self Injury - Atypical antipsychotics
Depression - SSRIs
Sleep Disorders - Melatonin

CGH - Comparative genomic hybridization
ASD OUTCOMES
Based on cognitive and social functioning

Progress but continued deficits

41% IQ < 70 (CDC 2009)

Psychological problems, comorbidities
Anxiety, depression

Seizures
Higher in children with ASD and Intellectual Dis
DEVELOPMENTAL DELAY
Global Dev Del
Delay in 2 or more important domains of develop

In Children who present with dev delay, early and intensive
services result in the greatest outcomes

When a child under 3 yo is IDd as delayed they are
referred to Early Intervention
INTELLIGENT QUOTIENT IQ
Psychometric measure which describes the structure and
organization of mental abilities
IQ is thought to be predictive of acad functioning
Predictive validity increases with age
Performance on IQ test is impacted by
Physical or social environment
Rapport
Distractibility/Off task behavior
Motiviation/Interest
Language fluency
Cultural or sociodemographic factors
Only valid for the population for which they were normed
IQ
Multiple IQ measures: Wechsler Intelligence Scale for
Children (WISC-4), Stanford Binet Intelligence Scales-5
(SB), Differential Ability Scales (DAS-2)

Mean 100

Divided into subtests, subtests clustered into domains or factors

Subtests profile, or factor profile more important than FSIQ
ADAPTIVE BEHAVIOR
Ability of an individual to engage in self care
Dressing, toileting, caring for the home, caring for self
in the community, etc.
Assessment
Many questionnaires available for evaluating and
monitoring adaptive functioning
Vineland Adaptive Behavior Scales (VABS), Scales of
Independent Behavior Revised (SIB-R) Adaptive
Behavior Assessment System (ABAS)
Ranges
Similar to IQ
INTELLECTUAL DISABILITY (ID)
Definition
Significant limitation in intellectual and adaptive function
ing which impacts multiple areas of everyday function
ing including social and practical skills
Previously known as Mental Retardation
IQ which is 2 standard deviations below the mean <70-75
Delays in communication, self care, social functioning,
academic skills, work and leisure
Onset prior to 18 years old
Level of support in adulthood is influence by environment
ID - CLINICAL PRESENTATION
Speech Delay
Language development is a better predictor of later
cognitive ability than motor development
Slow Learning
Immaturity
Delay in Adaptive Skills
Toilet training, self care
Seems "different"
Age of presentation associated with severity
Early presentation more severe
ID - CAUSES
Account for 3/4 of contribution
chromosomal/genetic
Cerebral Dysgenesis
Perinatal
Asphyxia
Postnatal
Deprivation
Physical (poor nutrition) and environmental
Exposures to toxins
Medication, illicit drugs, ETOH, tobacco

OTHER
Idiopathic
Metabolic
Endocrine
Trauma
Infectious
TORCH
ID EVALUATION
Thorough Hx
Past medical hx
Family Hx is important
Detailed PE
Dysmorphic features
Neuro exam
Abnormal skin findings
Abnormal grwth
Imaging
MRI (50% abnl) if unusual head shape, microceph,
focal neuro signs, seizures, and sometimes macroceph.
Genetic Testing
First Line
Comparitive Genomic Hybridiization (CGH)
12-19% yield
Second Line
Fragile X
Karyotype - only if suspected abnormality (T21, etc)
Other studies as indicated by H & P
(Angelman, Rett, VCFS, Williams)
Metabolic Testing (low yield)
Coarse features
Organomegaly
Neurodegenerative course
Failed newborn screen
DEFICITS ASSOCIATED WITH ID
Vis Impairment 1-15 %
Hearing Imp 7 - 10 %
Seizures 10-20 %
CP 10-20 %
Specific Language Impairment
ID MANAGEMENT
Treat underlying medical disorder or comorbidities
Refer for intervention
School/EI
Learning supports
Behavior supports
Family support
Families often stressed during times of transition
when delay is highlighted
Community-Based support
Children with disabilities are eligible for services thru
state agencies
Department of disabilities, behavioral health.
ID - OTHER CONSIDERATIONS
Future planning
Start at 11, discuss each visit
School until 22
Guardianship before 18
Residence
Vocation
LEARNING DISABILITIES (LD)
Definition: Neurobiological disorder that impacts brain
functioning and how an individual learns
Impacts acquisition and use of listening, speaking,
reading, writing, reasoning and math skills
Prevalence 3-5 % in school age
Includes diabilities in academic functioning
Reading Disorder (D/O) or Dyslexia, D/O of
Written Expression, Math D/O
Sometimes defined as the difference in IQ vs
achievement testing
LD
Cognitive and academic skills can develop at different
rates for different children
In addition to academics can impact overall functioning
Social functioning, executive functioning
Learning Disorders can present in children with high IQ
Usually not outgrown but can be overcome
LD - EARLY INDICATORS
Reading/Writing Disorder
Language delay (preschool)
Difficulties with language comprehension or phonemic
skills
Failure to learn letters and numbers by kindergarden
Failure to read simple words by the first greade
Letter reversals can be normal for b and d through
7 years old
Math Disorder
Poor visual spatial skills
More effort needed to complete work
Children with higher cognitive functioning may present
later
May compensate using other skill sets in early childhood
years
LD - PRESENTATIONS
Academic failure

Inattention
In content classes (eg social stud, science) can present
as a failure secondary to reading prob

Behavior problems

Other indicators
School refusal or disinterest
Retention
LD
Can be multifactorial
Comorbid conditions: Attn, social, env
Other behavioral prob
Individuals with LD are at inc risk for behav or mental
health D/O
Depression
Anxiety
SA
Risky behav
Delinquincy
Dropout
LD EVAL
Testing can be performed
By school
Private
Testing has limits
Similar to cog testing
Ensure that the test is evaluating the area of concern
Rule out other neurodevelopmental dis
Autism, ADHD, ID
LD EVAL - MEDICAL
Hx of concerns
Hx from parents & teachers
Which subjects, behavior in the classrm, school absncs
Review current services
Past MedHx
Fam Hx
LD runs in families (25-60% for Dyslexia)
Vision and hearing assess is rec
Utility of neuroimaging is limited
Further med evaluation is necessary in certain circs
Rapid or acute decline in abilities, trauma
LD assoc with: CNS cond (SZ, myelomeningocele, NF,
TS)
Temporary in post-concussive syndrome
LD EVAL - PYSCHOEDUCATIONAL
Perform or review psychoeducational testing
Cognitive testing
Achievement (academic testing)
Scores typically have a mean of 100, stand devs vary
Access strengths and weaknesses
Assess communicative ability
Assess social ability

LD is suspected or diagnosed when:
Achievement<Cognitive especially with normal cgntn
Uneven cognitive abilities VIQ>PIQ or PIQ>VIQ

achievement testing eg WIAT, Woodcock Johnson
ACADEMIC FAILURE DD
Neurobiological
LD in one subject
ID
Longstanding, more pervasive, deficits in adaptive
functioning
Attention disorder
Worse later in the day or longer into testing, other
signs of inattention
Psychosocial/Environmental
Drugs, truancy, illness, temperamental factors,
emotional problems, family env, mental health
Environmental
Poor schooling
ACADEMIC FAILURE DD - MEDICAL
Sensory impairment
Hearing, vision
Other Medical
Sz(partial or absence), Tourette's
Chronic medical illness or their treatment
GI,CF, immunodeficiencies, DM, arthritis
Medications (antiepileptics, antihistamines)
LD - MANAGEMENT
Special Education
Practice (remediation)
Modification
Decreased workload
Targeted stratagies
Accomodations
Text on tape, oral testing, spell check, word processers
placement in classroom, extra time
LD - MANAGEMENT
Parent Ed
Child is not lazy
Maintenance of self-esteem
Extracurricular activities are essential
Family support
Treat underlying behaviors
Special Educational Services
(IEP, 504)
University support services and accomodations are
available for an adolescent beginning a college education
SPECIAL EDUCATION
Criteria for educational placement might be
diff in diff states and cities
Diff classrooms
Self contained, resource room, tutoring, inclusion
integrated
Balance between placement where a child can receive
app supports and interventions and exp to the reg
class
RETENTION
Not recommended after preschool
Short term bene wears off
What didn't work the first time is not likely to work the
second time
Lowers self esteem
High rates of
Drop out (10-39%)
High risk behavior
Etoh, smoking, SA, driving with drinker, violence, SI,
high risk sexual behavior
Alternative to retention
Evaluation of needs
Appropriate service provision
PROGNOSIS FOR LD
Prognosis:
Depends on time, level of intervention, self-esteem
Child who have LD can reach high levels of achieve with
app parent, school, and community support

Children with LD at inc risk for
Poor academic perf, not completing HS, exhibiting
neg behaviors, poor self esteem

Long-term outcomes
Unemployment or employment at less than a living
wage, restricted ed and work opportunities, poverty
For dyslexia, often persistent reading problems into
young adulthood
LD AND CAM
Optometric training, Patterning, Sensory integration
Commonly used
Controversial
Evidence is lacking
Parental guidance around CAM similar as in other
scenarios
Help parents to understand how to evaluate the benes
risks and evidence
Similar principle for CAM use in all areas of pediatrics
CONCLUSIONS
Important to perform surveillance and screening for
Dev delays and disorders

Refer early for eval and tx

Help guide families toward app services

Provide ongoing support