PSY 3410

AUTISM SPECTRUM DISORDERS &

INTELLECTUAL DISABILITY
Unit 4– Diagnosis & Characteristics of ID
and other Developmental Disabilities
Instructor: Dr. Lauren Moskowitz

Class #8-9 9/27/18 & 10/1/18

Classification of Intellectual Disability
What is Intelligence?
 General mental capability
 Involves ability to reason, plan, solve problems,
think abstractly, comprehend complex ideas,
learn quickly, and learn from experience
 Represented by Intelligent Quotient (IQ) scores
obtained from standardized tests

AAIDD (2008)
 Measurement of Intelligence

 Norm-referenced assessment Comparing scores to general

population

 Mostcommon form of testing

 Example: IQ tests
 Compares individual to standardized group/norm

 Criterion-referenced assessment
 Focuses on specific skills and absolute level of
performance.
 More useful for teachers because it indicates where to
begin instruction.
 Example: Math test
 IQ
 Measures basic cognitive abilities
 Verbal reasoning
 Visuomotor abilities
 Working memory
 Visuospatial/processing speed

 Thought to be relatively stable over one’s lifetime

 Mean score = 100
 Most people score within 1-2 SD from the mean. SD = 15
 IQ test determines Mental Age and compares it to
Chronological Age
 Calculated: MA/CA*100 = IQ
 If CA = MA  “Average IQ”
 What is Adaptive Behavior?
 The conceptual, social, and practical skills that people
have learned to be able to function in their everyday lives
 Examples of Conceptual Skills
 Receptive and expressive language Reading and writing
 Money concepts Self-directions
 Examples of Social Skills
 Interpersonal Responsibility
 Self-esteem Gullibility or naiveté
 Follows rules Obeys laws
 Avoids victimization
 Examples of Practical Skills
 Personal activities of daily living (e.g., eating, dressing, mobility, toileting)
 Instrumental activities of daily living (e.g., preparing meals, housekeeping)
AAIDD (2008)
 AAIDD Definition of ID
Characterized by significant limitations in both intellectual functioning
& adaptive behavior
 Intellectual Functioning
 General mental capacity (e.g., learning, reasoning, problem solving)
 One way to measure intellectual functioning is an IQ test
 Generally, an IQ test score of around 70 or as high as 75 indicates limitation
 Adaptive Behavior
 Conceptual, social, and practical skills that are learned and performed
by people in their everyday lives
 Conceptual skills: language & literacy; money, time, & # concepts; self-
direction
 Social skills: interpersonal skills, social responsibility, self-esteem, gullibility,
naïveté (i.e., wariness), social problem solving, follow rules/obey laws
 Practical skills: activities of daily living, occupational skills, healthcare,
travel/transportation, schedules/routines, safety, use of money, use of phone
 DSM-V Diagnostic Criteria for ID
 Following 3 criteria must be met:
A. Deficits in intellectual functions (e.g., reasoning, problem
solving, planning, abstract thinking, judgment, academic
learning, and learning from experience) confirmed by
clinical assessment & individualized standardized testing
B. Deficits in adaptive functioning (result in failure to meet
standards for personal independence & social
responsibility)
 Without ongoing support, adaptive deficits limit functioning in ≥1
activities of daily life across multiple environments
C. Onset of deficits during the developmental period
 DSM-IV Degrees of Impairment
 Mild (IQ 55 to 70)
 About 85% of people w/ ID
 Typically not identified until elementary school years
 Overrepresentation of minority group members
 Moderate (IQ 40 to 54)
 About 10%
 Usually identified during preschool years
 Severe (IQ 20 to 39)
 About 3%-4%
 Often associated with organic causes
 Usually identified at a very young age
 Profound (IQ < 20 or 25)
 About 1%-2%
 Usually identified in infancy
 Almost always associated with organic causes and often co-occurs with severe
medical conditions
 DSM-V Diagnostic Criteria for ID:
Specifiers
 Specify current severity level:
 Mild
 Moderate
 Severe
 Profound

 The various levels of severity are defined on the basis

of adaptive functioning, and not IQ scores, because it
is adaptive functioning that determines the level of
supports required
 Moreover, IQ measures are less valid in the lower end
of the IQ range
 Severity Conceptual domain
level
Mild Preschool: may be no obvious
differences
School-age: academic skills.
Adults: abstract thinking, EF, STM,
functional use of academic skills
Moderate Language, pre-academic, &
academic skills develop slowly.
Adults: academics at elementary
level
Severe Little understanding of written
language or concepts (e.g., #,
time, $). Caretakers provide
extensive support for problem-
solving.
Profound May use objects in goal-directed
fashion. Certain visuospatial skills
may be acquired. Co-occurring
motor & sensory impairments may
prevent functional use of objects.
Social domain
More concrete & immature (e.g.,
peers’ social cues) in social
interaction, understanding of
risk, social judgment.
Language much less complex
than peers. May have
friendships & sometimes
romance. But social judgment &
decision-making limited.
Spoken language limited (vocab
& grammar). Single words or
phrases. May need ACC.
Understand simple speech &
gestures. Relationships source of
pleasure & help.
Nonverbal, nonsymbolic
communication. Very limited
understanding of speech or
gesture. Co-occurring sensory &
physical impairments may
prevent many social activities.
Practical domain
Age-appropriate in personal care
& recreational skills. Need support
for complex daily living tasks (e.g.,
nutrition, $), health care & legal
decisions. Jobs w/out conceptual
skills.
Can do personal care & household
tasks with extended teaching &
ongoing reminders/support.
Employment with considerable
support. Maladaptive behavior.
Requires support for all activities of
daily living. Requires supervision at
all times. Cannot make decisions re:
well-being of self or others. Home
& work tasks require ongoing
support. Maladaptive behavior (inc
SIB) present in significant minority.
Dependent on others for all aspects
of daily physical care, health, &
safety. May assist with some daily
work tasks at home. Recreational
activities watching/listening, walks,
all with support of others.
Maladaptive behavior.
Practice Question

 True or False: Scoring poorly on an IQ

test does not necessarily mean the
individual has an ID.

 Answer: True!
Adaptive Skill Areas
 Communication
 Self care
 Home Living
 Social Skills
 Community use
 Self Direction
 Health and safety
 Functional academics
 Leisure
 Work
Assumptions of AAIDD Definition
 1. Limitations must be considered within a context.
 2. Assessments consider cultural and linguistic
diversity.
 3. Strengths are included with limitations.
 4. Purpose of describing limitations is to develop
proper supports.
 5. With appropriate individualized supports the life
functioning of the individual will improve.
 AAIDD Measurement of Adaptive
Behavior
 Behavior is considered adaptive if the person can:
 Manage personal needs
 Display social competence
 Avoid problem behaviors

 Includes conceptual, social, and practical skills

 Adaptive behavior occurs within a context
 Currently, there is no existing measure that
measures ALL aspects of adaptive behavior
 Examples of assessments:
 VinelandAdaptive Behavior Scale
 Adaptive Behavior Assessment System
 Example:
The Vineland Adaptive Behavior Scales
Area Examples of items Life age
Self-help general Asks to go to toilet 1.98
Tells time to quarter hour 7.28
Self-help eating Drinks from cup or glass unassisted 1.40
Uses table knife for spreading 6.03
Self-help dressing Dries own hands 2.60
Exercises complete care of dress 12.38
Self-direction Is trusted with money 5.83
Buys on clothing accessories 13.00
Occupation Uses skate, sled, wagon 5.13
Performs responsible routine chores 14.65
Communication Uses names of familiar objects 1.70
Communication by letter 14.95
Locomotion Moves about on floor .63
Walks downstairs one step per tread 3.23
Socialization Plays with other children 1.50
Plays difficult games 12.30
AAIDD Framework
 Step 1: Diagnosis
 IQ tests, adaptive behavior scales, age of onset
 Step 2: Classification
 Support intensity scales, special education classification,
mental health factors, funding sources/benefits
 Step 3: Planning supports
 Person-centered planning, Individual plan elements
(e.g., IEP)
 Organization of Supports

 Support Intensity Scale

 Measures 57 life activities and 28 medical and
behavioral areas.
 Support areas include: Home living, community living,
lifelong learning, employment, health and safety, social
activities, and protection and advocacy.
 Ranks each activity according to amount, intensity,
frequency, and duration of support needed.
 *Severity definitions should consider the mismatch
between support needed and support obtained.
AAIDD Differences to DSM-V
Classification
 Does not categorize by severity
 Provides information on individual supports needed
 Focuses on functioning across contexts (home, school,
community)

 What are some advantages to AAIDD system

compared to DSM-V?
Labels
 Label should denote what a person needs,
not what they are.
 Pros/cons to labeling
Individual Supports
 People with ID will most likely need services
throughout their lifetime:
 Medicine

 Education

 Psychology

 Social work

 Interdisciplinary focus is best.

 Goal is to provide a good quality of life for
individual and family.
 Utilize individual’s strengths
Unit 5:
Etiology of Intellectual Disability
Critical periods

 Specific phases in the lifespan where the organism is

highly sensitive to external factors that could
determine important developmental functions.

 Developmental Vulnerability
 Refers to how susceptible an organism is to being
injured or altered by a traumatic incident.
 Prevalence of ID
 1-3% of population
 10% due to chromosomal abnormalities
 5% due to genes
 32% due to prenatal causes
 11% due to perinatal causes
 4% due to postnatal causes
 Unknown origin - >30%

 Some causes may develop prenatally, but are not known

until postnatal development

 ~750 disorders are associated with ID

 1) ID due to
Chromosomal Abnormalities
 Chromosomal Aberrations
 23 pairs of chromosomes, made up of genes
 22 are "autosomal”; 1 is "sex” chromosome
 Genes are normal, chromosomal material is abnormal
a. Additions /trisomies

b. Deletions

c. Partial additions
 Trisomy 21 (Down Syndrome)
 Trisomies: triplets of chromosomes
 Down Syndrome (1 in 700 to 1,000)
 3rd copy of 21st chromosome
 Physical stigmata – folds at inner corners of eyes
 On average, Mild to Moderate ID
 Relative weaknesses: grammar, exp language, speech
 Relative strengths: visual-spatial tasks
 Cog Development slows over time
 By age 4 moderate ID
 By 18 severe ID
 Other problems:
 congenital heart disease
 higher chance of leukemia
 hearing and visual problems
 obesity
 In most cases, extra chromosome 21 in all body cells
 Variation called "mosaicism" - only some cells in body have 3 copies
Down Syndrome
 Maternal age
 35-40: 1.5%
 40: 3.4%
 45: 10%
 90-95% of women who discover they are carrying a fetus
with Down Syndrome have an abortion
Partial Trisomies
 4P Trisomy
 Microcephaly
 Severe ID
 6p Trisomy
 Microcephaly
 Failure to thrive
 ID, sometimes ASD
 9p Trisomy
 Macrocephaly
 Moderate to Severe ID
 20p Trisomy
 Brachycephaly
 Mild to severe ID.
Chromosomal Deletions

 5p deletion / “Cri du chat”

 Larynx problem
 Small stature/slow growth
 Widely set eyes
 Hypotonia
 Moderate to Severe ID
 Severe speech and language delays

 11p deletion/”WAGR”
 Wilms Tumor
 Anaridia (No iris)
 Genital abnormalities
 ID
 Chromosome Deletions
 15q deletion
 If inherited from Father: Prader Willi Syndrome
 Hypothalamus problems – extreme obesity
 Behavior problems with food denial
 Compulsive behavior – hoarding
 Mild to Moderate ID
 Relative strengths in reading, LTM, visual-spatial

 If inherited from Mother: Angelman Syndrome (Happy

Puppet Syndrome)
 Large mouth, widely spaced teeth
 Abrupt inappropriate laughter
 Absent or limited expressive language
 Severe to profound ID
 Extremely affectionate
 Chromosome Deletions
 Williams Syndrome
 Caused by spontaneous deletion of 26-28 genes
on chromosome #7 (deletion occurs in either egg or sperm)
 1 in 7,500 to 1 in 10,000 people
 Strengths: social, friendly, endearing
(“excessively social”, “overfriendliness”)
 Difficulties: cardiovascular problems, spatial relations,
numbers, abstract reasoning, phobias, anxiety, attention
 Sex linked Chromosomal abnormalities
 XXY – Klinefelter’s Syndrome
 only males
 physically infertile
 cognitive impairment
 ranges from no impairment to mild ID

 XXX Syndrome - Trisomy X or Triple X

 Mild ID
 only females
 1/1000 births; majority are never diagnosed

 XXXXX - Penta X Syndrome

 Moderate to severe ID
 females only
 Physical stigmata
2) ID due to
Genes
 What are the
different ways
In which a
genetic syndrome
can be
inherited?
 Dominant Genetic Disorders
 Tuberous Sclerosis - 1/9500
 Genes on chromosomes 9 and 15
 facial angiofibroma: butterfly shaped rash
 Seizures
 ID
 benign tumors (calcification) in brain
 Language delays
 behavior problems
 Hyperactivity; Aggression
 >10% also have ASD
 Rett Syndrome - on autism spectrum
 Gene is on X chromosome –boys are miscarried
 Normal development followed by developmental regression
 ID
 Motor problems
 hand wringing
 hand to mouth behavior
 Recessive Genetic Disorders
Phenylketonuria (PKU) – 1/8,000
 Unable to metabolize phenylalanine
 Delayed mental/social skills
 Seizures
 ID
Galactosemia – 1/60,000
 can't metabolize galactose (component of milk)
 Poor feeding/poor growth
 Lethargy; irritability
Tay-Sachs Disease
 Inability to metabolize lipids (fats)
 Blindness
 Severe ID
 Dementia
 Loss of motor skills
 Results in (100%) death by age 4-5.
 Sex Linked Genetic Disorders
 Lesch-Nyhan Syndrome – 1 in 380,000 individuals
 Abnormal recessive gene on X chromosome
 Excess of Uric acid in blood
 Severe compulsive self mutilation.
 Very difficult to treat self injury
 Severe ID
 Often die during adolescence

 Fragile X – 1/3,600 to 4,000 males, 1/4,000 to 6,000 females

 X-linked dominant
 In boys much more severe than girls
 behavior problems
 most are quite social
 Many diagnosed with ASD
 Behavioral Phenotype of Fragile X
 Males  Females
 Hyperactivity  Shyness
 Shorter attention span  Social anxiety
 Tactile defensiveness  Heightened arousal
 Hand-flapping  Social interaction difficulties
 Perseverative speech  Attention problems
 Gaze aversion  Withdrawn behaviors
 Anxiety/ hyperarousal  Compulsive behavior (55%)
 Excessive shyness  Self-injurious behavior (17%)
 Compulsive behavior
 Self-injurious behavior
 Autistic-like behaviors
 Cognitive, speech, and language deficits

https://ca.sports.yahoo.com/video/fragile-x-autism-connection-231241032.html
 “Autistic-like” behavior - males
 Gaze avoidance
 Social relating
 Anxiety
 Hyperarousal
 Males: initially avert gaze, wait for other person to look
elsewhere and then return to gaze – so more socially
attuned than autism, but still avert gaze
 “Fragile X handshake”: greeting behavior;
took hand of other to shake, but turned
head as did so, mumbled greeting,
and then later returned gaze (Wolff et al 1989)
 Social Escape/Avoidance Behaviors in FXS
 Children w/FXS displayed more escape behaviors with
stranger & Mom than children w/DS, ASD, & TD (Cohen et al., 1988)
 Children w/FXS made EC with parent only when parent
looking elsewhere (Cohen et al., 1991)

 Higher levels of turning away, running away, looking away,

not looking at adult during interaction for individuals with
FXS (compared to DS, autism, & TD)
 Although both children w/FXS & autism both avoided
social interaction, boys w/FXS avoided stranger more than
parent (Cohen et al., 1989; 1991)
 3) ID due to
Prenatal factors
 Prenatal risk factors for ID:
Infection
 Rubella - can produce series of health problems and ID if mother
gets it during pregnancy
 Toxoplasmosis - protozoan infection - during first 3 months of
fetus' life exposed to protozoa
 ID
 Hydrocephaly
 Retinal inflamation
 brain calcification
 Protozoa are found in raw meat and cat feces
 Syphilis – fetal infection after 18 weeks of gestation if untreated;
newborns may have meningitis, hydrocephalus, or seizures
 AIDS - more than 90% of children exposed to AIDS in fetal stage
show brain-related neurological abnormalities
 Prenatal Risk Factors for ID:
Drugs
 Toxins - substances consumed by mother are toxic to fetus -
including:
 Cocaine
 passed on to baby through placenta
 postnatally passed on through breast milk.
 Restricts blood vessels in brain --> Anoxia --> brain damage
 Heroin
 baby born addicted to drug
 Withdrawal symptoms: seizures and vomiting
 Fetal Alcohol syndrome - very prevalent in US
 Ingesting alcohol leads to hypoxia to brain
 Produces cerebral bleeding  brain damage (ID)
 Facial deformities
 Depends on amount of drinking
Prenatal Risk Factors for ID:
Drugs (continued)
 Nicotine/cigarettes
 Reduces birth weight
 Other health problems
 ID
 Women who smoke 1pk/day have babies who weigh 5
ounces less than non-smoker babies
 Legal drugs
 Dilantin: controls seizures in epilepsy
 can produce ID
 blood levels are closely monitored
 Accutane (Retin A) - controls acne - 2 forms
 one rub on skin - no impact for fetus
 pill form can produce severe damage to fetus
 Prenatal Risk Factors for ID:
Medical Conditions
 Medical Conditions
 Diabetes can affect blood circulation in placenta
 Hypoxia -> brain damage
 Hypertension
 interfereswith blood flow through placenta
 Leads to babies who are small at birth & reduces fetal
blood supply
 Hypoxia -> brain damage

 Both
can lead to CNS problems, bone problems, heart
problems in baby
 4) ID due to
Perinatal factors
 Perinatal Risk factors for ID
 Prematurity
 associated with variety of medical issues as well as cognitive
problems
 With good medical care, can grow up normally

 Encephalopathy - brain injury during delivery

 Caused by deprivation of O2 to the baby
 If labor goes too long, give drug (pitocin) to induce labor or
C-section
 Trauma to brain during delivery
 Intracranial hemorrhage
 Using high forceps during delivery – can produce trauma and
brain damage
Perinatal risk factors (continued)
 Genital Herpes
 Can lead to herpes encephalitis for baby
 As baby passes through genital canal will encounter virus
 Can cause:
 Brain inflammation
 Blindness
 ID
 Kernicterus
 Caused by very high levels of bilirubin
 Maternal/child blood Rh factor incompatibility
 Erythroblastosis fetalis - destruction of baby’s red blood cells
 Severe jaundice
 Absent startle reflex
 Babies need immediate blood transfusion
 5) ID due to
Postnatal factors
Postnatal risk factors:
Infection
 Meningitis
 Bacterial or viral infection that affects brain and
spinal cord
 Tissues that protect brain become inflamed

 Anytime through age 4 can cause ID

 Encephalitis
 Brainitself is inflamed
 Most common infection that produces this is
herpes
 Postnatal risk factors:
Toxins
 Poisons (toxic substances in the environment)
 Mercury - used in commercial processes:
 Causes ID and other neurological problems

 Lead - used to be in gasoline and paint

 At low levels risk factor for ADHD
 At higher levels ID
 At very high levels death
 Stored in bone and released during pregnancy
Postnatal risk factors:
Cerebral trauma
 Traumatic Brain Injury – TBI
 Caused by accidents/child abuse.
 Always put baby in car seat.

 Child proof house to avoid accidents

 Child abuse - major postnatal cause of ID

 Shaken baby syndrome, brain hits skull-

produces intracranial hemorrhaging ID
Postnatal risk factors:
Environmental deprivation
 Psychological or environmental deprivation
 Example: PM and JM beaten by father, isolation
(lived in closet), not fed a healthy diet, no toys,
sensory deprivation. At 7, could barely walk and
had psychological problems (no independent living
skills, poor speech, no play behavior, no symbolic
reasoning). By age 22 (with therapy) normal social
skills.
 Suggests that this type of risk factor is reversible with
substantial recovery. But residual problems may still
occur.
Assessment of Intellectual Disability
Assessment of IDs
 Screening instruments
 Intellectual assessments
 Language assessments
 Social/adaptive behavior assessments
 Other domain assessments
 Immediately after birth
 Apgar score
 Appearance/complexion (color)
 Pulse rate
 Grimace response (reflex irritability)

 Activity (muscle tone, flexed arms & legs)

 Respiratory effort (breathing rate & effort)

 Blood analysis (i.e., heel prick)

 Can identify over 200 metabolic disorders
 PKU, Galactosemia, Sickle cell anemia, Cystic fibrosis

 Hearing screening
Comprehensive evaluation
 Assesses:
 Cognitive development
 Genetic and nongenetic causes

 Associated medical conditions

 Mental, emotional, and behavioral problems that may

influence cognitive Fx
 Specific co-occurring problems (i.e., major depression)
 Diagnosis vs. Eligibility
Diagnosis Eligibility

Based on set of criteria (e.g., DSM-IV) Based on Federal law (e.g., IDEA)

Refers to specific disorder Refers to broad disability category

Used in private settings Used only in public school system

May be determined by an individual or Must be determined by a team

team
Disability Classifications in the School
System
 Learning disability
 Speech or language impairment
 Mental retardation
 Emotional disturbance
 Autism
 Hearing impairment
 Visual impairment
 Deaf-blindness
 Orthopedic impairment
 Traumatic brain injury
 Other health impairment
 Multiple disabilities
 Developmental delay
Back to Labels…
 It’s better to give the correct diagnosis than the
incorrect one.