Autism Spectrum Disorder Overview

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Questions and Answers

Which cognitive deficit is most specifically associated with autism spectrum disorder (ASD)?

Deficits in processing socio-emotional information

Executive functioning deficits

Impairment in social motivation

Lack of theory of mind (ToM) (correct)

Which of the following conditions occurs in approximately 50% of children with ASD?

Sleep disturbances

Motor impairments

Seizures

Gastrointestinal symptoms (correct)

What percentage of siblings of individuals with ASD is also diagnosed with the disorder?

0-5%

15-20% (correct)

40-50%

30-35%

What is the recommended age range for screening all children for ASD?

18-24 months Signup and view all the answers

Which of these is not commonly considered a comorbid disorder in children with ASD?

Obesity Signup and view all the answers

Which treatment strategy focuses on engaging children and teaching social behaviors?

Early intervention Signup and view all the answers

What is a common neurodevelopmental disorder that features severe psychotic symptoms in children?

Childhood-Onset Schizophrenia Signup and view all the answers

Which of the following is not a positive symptom of schizophrenia?

Emotional apathy Signup and view all the answers

What area of the brain has shown to have structural abnormalities in individuals with ASD?

Cerebellum Signup and view all the answers

What is the heritability percentage indicating the underlying liability for ASD?

90% Signup and view all the answers

What is not a common medical condition associated with ASD?

Heart disease Signup and view all the answers

Which medication class is frequently prescribed to children with ASD to manage symptoms?

Antipsychotics Signup and view all the answers

What factor is least likely to influence the genetic risk of ASD?

Child's diet Signup and view all the answers

What is a characteristic feature of childhood-onset schizophrenia?

Gradual onset Signup and view all the answers

Which of the following is NOT a defining feature of Autism Spectrum Disorders (ASD)?

Strong nonverbal communication skills Signup and view all the answers

What aspect of development is likely affected by core deficits in ASD?

Social-emotional development Signup and view all the answers

Which term was coined by Asperger in 1944?

Asperger’s disorder Signup and view all the answers

What is a common characteristic of individuals with Autism Spectrum Disorders regarding their communication?

Regressive language development between 12-30 months Signup and view all the answers

What concept describes the ability to understand one's own mental states and those of others, which is often impaired in individuals with ASD?

Theory of mind Signup and view all the answers

Which form of communication deficit is characterized by the repetition of phrases or words?

Echolalia Signup and view all the answers

Children with ASD often exhibit which of the following behavior patterns?

Stereotyped body movements Signup and view all the answers

Which additional characteristic is commonly associated with children diagnosed with ASD?

Intellectual deficits and strengths Signup and view all the answers

What is a major factor contributing to the spectrum nature of Autism Spectrum Disorder?

Variability in language impairment severity Signup and view all the answers

Which of the following statements about sensory and perceptual impairments in ASD is true?

Children with ASD can have auditory or visual hypersensitivity Signup and view all the answers

What is the significance of 'the drive for central coherence' in relation to Autism Spectrum Disorder?

It represents difficulty in focusing on specific details. Signup and view all the answers

What is an example of restricted and repetitive behavior seen in children with ASD?

Insistence on sameness in routines Signup and view all the answers

In terms of intellectual abilities, most children diagnosed with autism exhibit what pattern?

Low verbal scores along with high nonverbal scores Signup and view all the answers

Study Notes

Autism Spectrum Disorder (ASD)

ASD is a complex neurodevelopmental disorder characterized by difficulties in social interaction, communication, and repetitive behaviors.
Pervasive developmental disorders (PDDs), including autism, exhibit impairments in social and communication skills, and stereotyped interests and behaviors.
Kanner (1943) initially described autistic symptoms in children, coining the term "early infantile autism."
Asperger (1944) defined a milder form of autism, known as Asperger's disorder.
Autism is a lifelong disability present in early childhood, resulting from biological factors and affecting brain development.

DSM-5 Criteria for ASD

Impairments in Social Interaction:
- Deficits in social and emotional reciprocity.
- Unusual nonverbal behaviors, including difficulty with social imitation, joint attention, and shared focus of attention.
- Limited social expressiveness.
- Atypical processing of faces and facial expressions.
Impairments in Communication:
- Inconsistent early preverbal communication, including protoimperative gestures (demanding) over protodeclarative gestures (sharing).
- About 50% of children with ASD do not develop useful language.
- Language regression can occur between 12-30 months.
- Qualitative language impairments, such as pronoun reversals, echolalia, perseverative speech, and pragmatic difficulties.
Restricted, Repetitive Behaviors and Interests:
- Stereotyped body movements, including repetitive sensory and motor behaviors and insistence on sameness behaviors.
- Self-stimulatory behavior, potentially driven by craving for stimulation, blocking out unwanted stimulation, or sensory reinforcement.

Associated Characteristics of ASD

Intellectual Deficits and Strengths:
- About 70% of children with ASD have intellectual impairments, often with lower verbal and higher nonverbal scores.
- Approximately 25% exhibit splinter skills or "islets of ability."
- A small percentage (about 5%) have autistic savant syndrome, displaying remarkable talents in isolated areas.
Sensory and Perceptual Impairments:
- Oversensitivities or undersensitivities to certain stimuli.
- Overselective attention and difficulty shifting attention to sensory input.
- Impairments in mixing across sensory modalities.
- Sensory dominance and stimulus overselectivity.
Cognitive and Motivational Deficits:
- Deficits in processing social-emotional information, leading to difficulty in social situations requiring understanding.
- Difficulty with pretense and engaging in pretend play.
- Deficits in mentalization or theory of mind (ToM), impacting understanding of others' and their own mental states.
  - Difficulties with false-belief tests.
General Deficits:
- Executive function deficits (higher-order planning and regulatory behaviors).
- Weak drive for central coherence, affecting a global interpretation of stimuli within context.
  - Perform well on tasks focusing on parts of a stimulus.

Specific to ASD

Lack of ToM is one of the most specific characteristics of ASD, while deficits in socio-emotional information processing and executive functions are less specific.

Prevalence and Course of ASD

Worldwide prevalence is estimated at 100 children per 10,000.
Autism disorder (22/10,000), pervasive developmental disorder-not otherwise specified (PPD-NOS) (33/10,000), and Asperger's disorder (10/10,000) are included in the prevalence figures.
The disorder occurs across all social classes and is identified globally.

Age of Onset

Most often identified by parents in the months before a child's second birthday.
Diagnosis is often made during preschool or later.
Reliable detection is possible between 12-18 months.
Diagnoses around 2-3 years are generally stable.
The American Academy of Pediatrics recommends screening all children at 18-24 months.

Course and Outcome

Children with ASD may develop along various pathways.
Improvements often occur gradually with age, although many challenges persist, and symptoms may worsen during adolescence.
Complex obsessive-compulsive rituals can develop in late adolescence and adulthood.

Causes of ASD

Autism is believed to be a biologically based neurodevelopmental disorder with multiple causes.
Factors include problems in early development, genetic influences, brain abnormalities, and a disorder of risk and adaptation.

Problems in Early Development

Children with ASD experience more health problems during pregnancy, birth, and immediately after birth.
Prenatal and neonatal complications have been identified in a small percentage of children with ASD, such as parental age, in vitro fertilization, and maternal drug use.

Genetic Influences

Chromosomal and gene disorders:
- Fragile-X anomaly occurs in 2-3% of children with ASD.
- Individuals with ASD have an elevated risk (5%) for chromosomal anomalies.
- About 25% of children with tuberous sclerosis have ASD.

Family and Twin Studies

15-20% of siblings of individuals with ASD have the disorder, exhibiting the broader autism phenotype.
Concordance rates are high, suggesting a strong genetic influence:
- 70-90% in identical twins.
- Near 0% for fraternal twins.
- Heritability of ASD is estimated at 90%.

Molecular Genetics

Research points to potential locations for genes for ASD on multiple chromosomes.
While not a direct cause, genetic factors are implicated in the complex genetic disorder.
Environmental factors during fetal brain development can influence the expression of ASD genes.
Epigenetic dysregulation may play a role.

Brain Abnormalities

Behavioral features of ASD may result from abnormalities in brain structures, including lack of normal connectivity and communication across brain networks.
Multiple brain regions are potentially involved.

Brain Abnormalities: Biological Findings

Cerebral gray and white matter overgrowth.
Structural abnormalities, particularly in the cerebellum, medial temporal lobe, and limbic system structures.
Decreased blood flow in the frontal and temporal lobes.
Elevated blood serotonin in 33% of cases.
Atypical patterns of connectivity in the default mode network.

ASD as a Disorder of Risk and Adaptation

The relationship between early risk for ASD and later outcomes is mediated by the child's interaction with and adaptation to their environment.
Different children will follow diverse developmental pathways.

Treatment of ASD

Over 400 treatments for ASD exist, but there is no cure.
Goals of treatment include minimizing core problems, maximizing independence and quality of life, and supporting the child and family in managing the disorder.

Treatment Strategies: Overview

Engaging children in treatment.
Decreasing disruptive behaviors.
Teaching appropriate social behavior.
Increasing functional, spontaneous communication.
Promoting cognitive skills.
Teaching adaptive skills for increased responsibility and independence.

Treatment Strategies: Initial Stages

Initial stages focus on building rapport and teaching learning-readiness skills.
Discrete trial training uses a step-by-step approach, presenting a stimulus and requiring a specific response.
Incidental training strengthens behavior by capitalizing on natural opportunities.

Early Intervention

Intensive intervention for 25 hours a week over 12 months.
Low student-teacher ratios.
High structure.
Family inclusion.
Peer interactions.
Generalization of learned skills.

Medications

Many children with ASD receive psychotropic medications, such as antidepressants, stimulants, and tranquilizers/antipsychotics.
While benefits are limited and vary between individuals, medications do not alter core deficits.
Careful evaluation of risks, benefits, and costs is essential.

Childhood-Onset Schizophrenia (COS)

Schizophrenia is a neurodevelopmental disorder of the brain, characterized by abnormal mental functions and disturbed behavior.
Severe psychotic symptoms include bizarre delusions, hallucinations, thought disturbances, disorganized behavior, catatonic behavior, inappropriate or flat affect, and deterioration in functioning.
COS is a rarer and potentially more severe (though not distinct) form of schizophrenia occurring during childhood.

Key Features of COS

Occurs during childhood.
Gradual rather than sudden onset.
Likely to persist into adolescence and adulthood.
Profound negative impact on developing social and academic competence.

DSM-5 Positive and Negative Symptoms

Positive Symptoms:
- Delusions.
- Hallucinations, with auditory hallucinations being most common, particularly in children under 11 (80%).
  - Visual hallucinations, delusions, and thought disorder occur in 40 to 60% of cases.
Negative Symptoms:
- Slowed thinking, speech, and movement.
- Emotional apathy.
- Lack of drive.

Precursors and Comorbidities

Gradual onset with a history of behavioral, social, and psychiatric disturbances preceding psychosis.
Developmental precursors.
About 70% meet criteria for another diagnosis, most commonly mood disorder or oppositional defiant disorder/conduct disorder.
COS and ASD are not directly linked.

Prevalence

Extremely rare in children under 12.
Dramatic increase in adolescence, with an average onset around 22 years old.
Prevalence is estimated at less than 1 per 10,000 children.
COS has an earlier onset in boys (by two to four years), but gender differences diminish in adolescence.

Causes of COS

Neurodevelopmental Model:
- Defective neural circuitry makes children more vulnerable to stress.
Biological Factors:
- Strong genetic contribution.
  - Molecular genetic studies have identified potential susceptibility genes.
- Central nervous system (CNS) dysfunction and medication improvements suggest a brain-based disorder.
Environmental Factors:
- Family history and non-genetic factors can influence development, interacting with genetic susceptibility.
- High communication deviance.
- Stress, distress, and personal tragedy experienced by families of children with schizophrenia.

Treatment of COS

COS is a chronic disorder with a poor long-term prognosis.
Treatment emphasizes antipsychotic medications combined with psychotherapy and social and educational support programs.
Medications help control psychotic symptoms but can have serious side effects.

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Description

This quiz covers the essential aspects of Autism Spectrum Disorder (ASD), including its characteristics, historical definitions, and DSM-5 criteria. Learn about social interaction impairments and the biological factors affecting brain development in individuals with ASD. Test your knowledge on this complex neurodevelopmental disorder.