6
Autism Spectrum Disorder and
Childhood-Onset Schizophrenia
Eric J. Mash
A. Wolfe
©David
Cengage Learning
2016
© Cengage Learning 2016
Autism Spectrum Disorders (ASD)
• A complex neurodevelopmental disorder
characterized by abnormalities in social
behavior, language and communication
skills, and unusual behaviors and interests
© Cengage Learning 2016
Description and History
• ASD refers to pervasive developmental
disorders (PDDs) characterized by
significant impairments in social and
communication skills, and by stereotyped
patterns of interests and behaviors
© Cengage Learning 2016
Description and History (cont’d.)
• Kanner (1943) coined the term “early
infantile autism” to describe young children
with autistic symptoms
• Asperger (1944) defined a milder form of
autism ► Asperger’s disorder
• Autism is a biologically-based lifelong
neurodevelopmental disability present in
the first few years of life
© Cengage Learning 2016
DSM-5 Defining Features of ASD
• Impairments in social interaction
• Impairments in communication
• Restricted repetitive and stereotyped
patterns of behavior, interests, and
activities
© Cengage Learning 2016
DSM-5 Diagnostic Criteria for ASD
© Cengage Learning 2016
DSM-5 Diagnostic Criteria for ASD (cont’d.)
© Cengage Learning 2016
Autism Across the Spectrum
• Three factors contribute to the spectrum
nature of autism
– Children with autism may differ in level of
intellectual ability, from profound disability to
above-average intelligence
– Children with autism vary in the severity of
their language problems
– The behavior of children with autism changes
with age
© Cengage Learning 2016
Core Deficits of ASD
• Debate about core deficits of ASD
• Several deficits likely affect the child’s:
– Social-emotional development
– Language development
– Cognitive development
• These aspects of development are
interconnected
© Cengage Learning 2016
Social Interaction Impairments
• Deficits in social and emotional reciprocity
• Unusual nonverbal behaviors
• Social imitation, sharing focus of attention,
make-believe play
• Limited social expressiveness
• Atypical processing of faces and facial
expressions
• Joint attention
© Cengage Learning 2016
Communication Impairments
• One of the first signs of language
impairment is inconsistent use of early
preverbal communications
– Use protoimperative gestures rather than not
protodeclarative gestures
– Miss other declarative gestures, such as
showing gesture
– About 50% do not develop any useful
language
© Cengage Learning 2016
Instrumental and Expressive Gestures
© Cengage Learning 2016
Communication Impairments (cont’d.)
• Those who begin to speak may regress
between 12-30 months
• Children with ASD who develop language
usually do so before age 5
• Qualitative language impairments
– Pronoun reversals
– Echolalia
– Perseverative speech
– Impairments in pragmatics
© Cengage Learning 2016
Difficulty with Pragmatic Use of Language
© Cengage Learning 2016
Restricted and Repetitive Behaviors and
Interests
• Stereotyped body movements
– Repetitive sensory and motor behaviors
– Insistence on sameness behaviors
• Self-stimulatory behavior
– Different theories
• A craving for stimulation to excite their nervous
system
• A way of blocking out and controlling unwanted
stimulation from environment that is too stimulating
• Maintained by sensory reinforcement it provides
© Cengage Learning 2016
Associated Characteristics of ASD
• Children with ASD display a number of
associated characteristics
– Intellectual deficits and strengths
– Sensory and perceptual impairments
– Cognitive and motivational deficits
– Medical conditions and physical
characteristics
© Cengage Learning 2016
Intellectual Deficits and Strengths
• About 70% of autistic children with autism
have co-occurring intellectual impairment
• A common pattern is low verbal scores
and high nonverbal scores
• About 25% have splinter skills or islets of
ability
• 5% (autistic savants) display isolated and
remarkable talents
© Cengage Learning 2016
Drawing of a Horse by Nadia, Age 5
© Cengage Learning 2016
Sensory and Perceptual Impairments
• Oversensitivities or undersensitivities to
certain stimuli
• Overselective and impaired shifting of
attention to sensory input
• Impairments in mixing across sensory
modalities
• Sensory dominance
• Stimulus overselectivity
© Cengage Learning 2016
Cognitive and Motivational Deficits
• Deficits in processing social-emotional
information
– Difficulty in situations that require social
understanding
– Do not understand pretense or engage in
pretend play
– Deficit in mentalization or theory of mind
(ToM) - difficulty understanding others’ and
their own mental states
• Do not understand false-belief tests
© Cengage Learning 2016
General Deficits
• Executive functions (higher-order planning
and regulatory behaviors)
• Weak drive for central coherence (strong
human tendency to interpret stimuli in a
relatively global way to account for
broader context)
– Do well on tasks requiring focus on parts of
stimulus
© Cengage Learning 2016
Embedded Figure Test
© Cengage Learning 2016
What is Specific to ASD?
• Lack of ToM is one of the most specific to
ASD
– Deficits in processing socio-emotional
information and executive functioning deficits
are less specific to ASD
© Cengage Learning 2016
Are Cognitive Deficits Found in All ASD?
• A single cognitive abnormality cannot
explain all the deficits present in in
children with ASD
• There is a view that children with ASD
have an underlying impairment in social
motivation
© Cengage Learning 2016
Medical Conditions and Physical
Characteristics
• About 10% of children with ASD have a
coexisting medical condition
– Motor and sensory impairments, seizures,
immunological and metabolic abnormalities
• Sleep disturbances occur in 65%
• Gastrointestinal symptoms occur in 50%
• About 20% have a significantly largerthan-normal head size—more common in
those who are higher functioning
© Cengage Learning 2016
Accompanying Disorders and Symptoms
• Two most common disorders
– Intellectual disability
– Epilepsy
• Other disorders - ADHD, conduct
problems, anxieties and fears, and mood
problems
• May engage in extreme and sometimes
potentially life-threatening self-injurious
behaviors (SIB)
© Cengage Learning 2016
Prevalence and Course of ASD
• Worldwide: 100 children per 10,000 may
suffer from some form of autism
– Autistic disorder - 22 of 10,000
– PPD-NOS - 33 of 10,000
– Asperger’s disorder - 10 of 10,000
– One million or more individuals in the United
States
– Occurs in all social classes and identified
worldwide
© Cengage Learning 2016
Age of Onset
• Most often identified by parents in the
months preceding child’s second birthday
– Diagnosis is made in preschool period or later
• Earliest point in development for reliable
detection period is from 12-18 months
– Diagnoses made around 2-3 years are
generally stable
– AAP recommends that all children be
screened at 18-24 months
© Cengage Learning 2016
Course and Outcome
• Children with ASD may develop along
different pathways
• Often gradual improvements with age,
– Likely to continue to experience many
problems
– Symptoms may worsen in adolescence
• Complex obsessive-compulsive rituals
may develop in late adolescence and
adulthood
© Cengage Learning 2016
Causes of ASD
• It is now generally accepted that autism is
a biologically based neurodevelopmental
disorder with multiple causes
– Problems in early development
– Genetic influences
– Brain abnormalities
– A disorder of risk and adaptation
© Cengage Learning 2016
Problems in Early Development
• Children with ASD experience more health
problems during pregnancy, at birth, or
immediately following birth
• Prenatal and neonatal complications have
been identified in a small percentage of
children with ASD
– Examples: parental age, in vitro fertilization,
and maternal use of drugs
© Cengage Learning 2016
Genetic Influences
• Chromosomal and gene disorders
– Fragile-X anomaly occurs in 2-3% of children
with ASD
– ASD individuals have a 5% elevated risk for
chromosomal anomalies
– About 25% of children with tuberous sclerosis
have ASD
© Cengage Learning 2016
Family and Twin Studies
• 15-20% of siblings of individuals with ASD
have the disorder
– Broader autism phenotype
• Concordance rates
– 70-90% in identical twins
– Near 0% for fraternal twins
– Heritability of an underlying liability for ASD is
90%
© Cengage Learning 2016
Molecular Genetics
• Points to particular areas on many
different chromosomes as possible
locations for genes for ASD
– Causally implicated but not a direct cause
– ASD is likely to be a complex genetic disorder
– Expression of ASD genes may be influenced
by environmental factors occurring primarily
during fetal brain development
– Epigenetic dysregulation may be a factor
© Cengage Learning 2016
Brain Abnormalities
• Behavioral features of ASD may result
from abnormalities in brain structures
– Lack of normal connectivity and
communication across brain networks
– Multiple brain regions may be involved
© Cengage Learning 2016
Brain Abnormalities – Biological Findings
• Cerebral gray and white matter overgrowth
Structural abnormalities:
– In the cerebellum and medial temporal lobe
and related limbic system structures
• Decreased blood flow in the frontal and
temporal lobes
• Elevated blood serotonin in 33% of cases
• Atypical patterns of connectivity in default
mode network
© Cengage Learning 2016
ASD as a Disorder of Risk and Adaptation
• The relationship between the child’s early
risk for ASD and later outcomes
– Is mediated by alterations in how the child
interacts with and adapts to his or her
environment
• Different children will follow different
developmental pathways
© Cengage Learning 2016
Treatment of ASD
• There are about 400 different treatments
for ASD
• There is no known cure
• Treatment goals
– Minimize core problems
– Maximize independence and quality of life
– Help the child and family cope more
effectively with the disorder
© Cengage Learning 2016
Overview of Treatment Strategies
•
•
•
•
Engaging children in treatment
Decreasing disruptive behaviors
Teaching appropriate social behavior
Increasing functional, spontaneous
communication
• Promoting cognitive skills
• Teaching adaptive skills to increase
responsibility and independence
© Cengage Learning 2016
Treatment Strategies: Initial Stages
• Initial stages focus on building rapport and
teaching learning-readiness skills
– Discrete trial training involves a step-by-step
approach to presenting stimulus and requiring
a specific response
– Incidental training strengthens behavior by
capitalizing on naturally occurring
opportunities
© Cengage Learning 2016
Early Intervention
• Intensive 25 hours a week and 12 months
a year
• Low student-teacher ratio
• High structure
• Family inclusion
• Peer interactions
• Generalization
© Cengage Learning 2016
Medications
• Many children with ASD receive
psychotropic medications
– Antidepressants, stimulants, and tranquilizers/
antipsychotics
– Benefits are limited
• Variable from child to child
• Core deficits of these children are not altered
– Risks, benefits, and costs must be carefully
evaluated
© Cengage Learning 2016
Childhood-Onset Schizophrenia (COS)
• Schizophrenia is a neurodevelopmental
disorder of the brain - expressed in
abnormal mental functions and disturbed
behavior
– Characterized by severe psychotic symptoms
bizarre delusions, hallucinations, thought
disturbances, grossly disorganized behavior
or catatonic behavior, extremely inappropriate
or flat affect, and significant deterioration or
impairment in functioning
© Cengage Learning 2016
Childhood-Onset Schizophrenia (cont’d.)
• COS is a rarer and possibly more severe
(not distinct) form of schizophrenia
• Key features
– Occurs during childhood
– Has a gradual, rather than sudden onset
– Is likely to persist into adolescence and
adulthood
– Has profound negative impact on developing
social and academic competence
© Cengage Learning 2016
DSM-5 Positive and Negative Symptoms
• Positive symptoms
– Delusions
– Hallucinations most common for children are
auditory - occur in 80% of cases with onset
prior to age 11
• 40 to 60% experience visual hallucinations,
delusions, and thought disorder
• Negative symptoms
– Slowed thinking, speech, movement;
emotional apathy; and lack of drive
© Cengage Learning 2016
DSM-5 Diagnostic Criteria for
Schizophrenia
© Cengage Learning 2016
DSM-5 Diagnostic Criteria for
Schizophrenia (cont’d.)
© Cengage Learning 2016
Precursors and Comorbidities
• Gradual onset
• Almost 95% have history of behavioral,
social, and psychiatric disturbances before
onset of psychosis
• Developmental precursors
• Other symptoms/disorders
– 70% meet criteria for another diagnosis most commonly mood disorder or ODD/CD
– COS and ASD may not be linked
© Cengage Learning 2016
Prevalence
• Extremely rare in children under age 12
• Dramatic increase in adolescence, with a
modal onset around 22 years of age
• Estimated prevalence is less than 1 per
10,000 children
• COS has an earlier age of onset in boys
by two to four years
– Gender differences disappear in adolescence
© Cengage Learning 2016
Causes of COS
• Neurodevelopmental model
– Defective neural circuitry increases a child’s
vulnerability to stress
• Biological factors
– Strong genetic contribution
• Molecular genetic studies have identified several
potential susceptibility genes
– CNS dysfunction and improvements with
medication suggest it is a disorder of the brain
© Cengage Learning 2016
Causes of COS (cont’d.)
• Environmental factors
– Familial disorder and nongenetic factors may
play a role through interaction with a genetic
susceptibility
– High communication deviance
– Stress, distress, and personal tragedy
experienced by families of children with
schizophrenia
© Cengage Learning 2016
Treatment of COS
• COS is a chronic disorder with a poor
long-term prognosis
• Current treatments emphasize use of
antipsychotic medications combined with
psychotherapy and social and educational
support programs
• Medications help control psychotic
symptoms
– There can be serious side effects
© Cengage Learning 2016