Podcast
Questions and Answers
Which of the following is NOT a characteristic symptom of ASD?
Which of the following is NOT a characteristic symptom of ASD?
What percentage of heritability is estimated to be linked to genetics for ASD?
What percentage of heritability is estimated to be linked to genetics for ASD?
Which of the following prenatal factors is associated with an increased risk of ASD?
Which of the following prenatal factors is associated with an increased risk of ASD?
Epigenetic mechanisms are believed to alter the risk for ASD through what process?
Epigenetic mechanisms are believed to alter the risk for ASD through what process?
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Which of the following agents is classified as a potential teratogen that may increase ASD risk?
Which of the following agents is classified as a potential teratogen that may increase ASD risk?
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What is the role of prenatal viral infections in relation to ASD?
What is the role of prenatal viral infections in relation to ASD?
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Which treatment approach is most commonly discussed for managing ASD symptoms?
Which treatment approach is most commonly discussed for managing ASD symptoms?
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Which statement accurately reflects a factor contributing to the onset of ASD?
Which statement accurately reflects a factor contributing to the onset of ASD?
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What is a significant risk factor for Autism Spectrum Disorder (ASD) associated with maternal health?
What is a significant risk factor for Autism Spectrum Disorder (ASD) associated with maternal health?
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Which of the following chromosomes has been implicated in the heritability of autism?
Which of the following chromosomes has been implicated in the heritability of autism?
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How does the male to female ratio for autism compare to that of Asperger's Disorder?
How does the male to female ratio for autism compare to that of Asperger's Disorder?
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What is the primary focus of the locus coeruleus–noradrenergic system theory regarding autism?
What is the primary focus of the locus coeruleus–noradrenergic system theory regarding autism?
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Which behavior is commonly observed in children with autism spectrum disorders?
Which behavior is commonly observed in children with autism spectrum disorders?
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Which symptom area is NOT typically affected in autism spectrum disorder?
Which symptom area is NOT typically affected in autism spectrum disorder?
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What is the concordance rate for autism in monozygotic twins compared to dizygotic twins?
What is the concordance rate for autism in monozygotic twins compared to dizygotic twins?
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Which behavior may indicate a need for immediate evaluation by a pediatrician in a child under 18 months?
Which behavior may indicate a need for immediate evaluation by a pediatrician in a child under 18 months?
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What is a key indicator of autism in children by 12 months of age?
What is a key indicator of autism in children by 12 months of age?
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Which of the following behaviors is typical of children on the autism spectrum?
Which of the following behaviors is typical of children on the autism spectrum?
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At what age should a child typically begin to speak single words?
At what age should a child typically begin to speak single words?
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Which of the following describes protoimperative pointing?
Which of the following describes protoimperative pointing?
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What is the typical process to diagnose autism spectrum disorder (ASD)?
What is the typical process to diagnose autism spectrum disorder (ASD)?
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What is a sign that may indicate difficulties in understanding emotions in children with autism?
What is a sign that may indicate difficulties in understanding emotions in children with autism?
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Which screening tool is designed for early detection of autism in toddlers?
Which screening tool is designed for early detection of autism in toddlers?
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What is a common behavior seen in children with autism regarding their social interactions?
What is a common behavior seen in children with autism regarding their social interactions?
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What is required to meet the diagnostic criteria for autism regarding the number of items?
What is required to meet the diagnostic criteria for autism regarding the number of items?
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Which area must show a qualitative impairment to qualify under the diagnostic criteria?
Which area must show a qualitative impairment to qualify under the diagnostic criteria?
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Which of the following must be included to satisfy the requirements for communication impairment?
Which of the following must be included to satisfy the requirements for communication impairment?
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At what age must delays or abnormalities in functioning begin to meet the diagnostic criteria?
At what age must delays or abnormalities in functioning begin to meet the diagnostic criteria?
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What is NOT an acceptable alternative diagnosis to autism according to the criteria?
What is NOT an acceptable alternative diagnosis to autism according to the criteria?
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Which of the following describes an example of restricted and repetitive behavior relevant to autism diagnosis?
Which of the following describes an example of restricted and repetitive behavior relevant to autism diagnosis?
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What does not count as a sign of social interaction impairment in the criteria?
What does not count as a sign of social interaction impairment in the criteria?
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Which factor distinguishes autism from other disorders in the diagnostic criteria?
Which factor distinguishes autism from other disorders in the diagnostic criteria?
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Which of the following is NOT a characteristic of stereotyped patterns of behavior in autism?
Which of the following is NOT a characteristic of stereotyped patterns of behavior in autism?
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What is macrocephaly, and how is it related to Autism Spectrum Disorder (ASD)?
What is macrocephaly, and how is it related to Autism Spectrum Disorder (ASD)?
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What type of analysis is recommended if a child with ASD shows dysmorphic features?
What type of analysis is recommended if a child with ASD shows dysmorphic features?
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Applied Behavior Analysis (ABA) therapy primarily aims to address which of the following?
Applied Behavior Analysis (ABA) therapy primarily aims to address which of the following?
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Which condition requires lead level checks in the context of autism diagnosis?
Which condition requires lead level checks in the context of autism diagnosis?
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Which of the following characteristics is associated with Angelman syndrome, which may appear in autism assessment?
Which of the following characteristics is associated with Angelman syndrome, which may appear in autism assessment?
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For better treatment outcomes in young children with ASD, when is intensive behavioral therapy most effective?
For better treatment outcomes in young children with ASD, when is intensive behavioral therapy most effective?
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What is a common diagnostic examination for identifying physical features associated with autism?
What is a common diagnostic examination for identifying physical features associated with autism?
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Study Notes
Autism Spectrum Disorder
- History: Autism has been recognized as a range of neuropsychological conditions since the early 1900s.
- Definition: Autism Spectrum Disorder (ASD) is characterized by persistent deficits in social communication and interaction across multiple contexts, restricted and repetitive patterns of behavior, interests, or activities.
- Diagnostic Criteria: Symptoms must be present in early development (typically by age two), and cause significant impairment in social, occupational, or other important areas of functioning.
Causes of Autism Spectrum Disorder
- Genetic Factors: Early twin studies suggest genetics contributes significantly to ASD, with heritability estimated at over 90%.
- Interaction Theory: A common hypothesis suggests that ASD is caused by the interaction of genetic predisposition and environmental factors.
- Epigenetic Mechanisms: Epigenetic changes, such as histone modifications or DNA base modifications, can increase ASD risk.
- Prenatal Environment: Several prenatal factors are associated with increased ASD risk, including advanced parental age, diabetes, bleeding, and maternal use of psychiatric drugs during pregnancy.
- Infectious Processes: Prenatal exposure to rubella or cytomegalovirus activates the mother's immune response and significantly increases ASD risk.
- Teratogens: Some environmental agents, such as lead, theorized to cause birth defects are potential ASD risk factors.
- Thyroid Problems: Maternal thyroxine deficiency during weeks 8–12 of pregnancy may result in changes in the fetal brain leading to ASD.
- Maternal Diabetes: Gestational diabetes is linked to a twofold increase in ASD risk.
- Locus Coeruleus–Noradrenergic System: ASD behaviors may be partly due to developmental dysregulation of the locus coeruleus–noradrenergic (LC-NA) system function.
- Amygdala Neurons: An early developmental failure involving the amygdala may impact the development of cortical areas involved in social perception.
Autistic Disorder: Etiology
- Unknown Cause: The exact cause of Autistic Disorder is unknown.
- Multifactorial: It's believed to stem from a combination of factors, with strong genetic influence.
- Twin Studies: Monozygotic twins have a higher concordance rate for ASD (60-90%) than dizygotic twins (0%).
- Gender Distribution: ASD is more prevalent in males (M:F ratio of 4:1). Asperger syndrome, a sub-type of ASD, has an even higher male to female ratio (8:1).
- Genetic Links: Several genes linked to ASD heritability have been identified, including those on chromosomes 7q, 2q, and 15q11-13.
- MMR Vaccine: No evidence suggests a correlation between the MMR vaccine and development of autism.
Symptoms of ASD
- Main Disabilities: Children with ASD experience varying degrees of difficulty in the following areas: communication (verbal and non-verbal), social interaction, flexible thinking, and behavioral flexibility.
- Communication Regression: Some children initially develop communication skills but regress between 12 and 24 months, a strong indicator of autism.
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Early Signs in Babies and Toddlers:
- By 6 months: Lack of big smiles or joyful expressions.
- By 9 months: Absence of back-and-forth sharing of sounds, smiles, or facial expressions.
- By 12 months: No response to their name, no babbling or baby talk, and no back-and-forth gestures like pointing, showing, reaching, or waving.
- By 16 months: No spoken words.
- By 24 months: No meaningful two-word phrases beyond imitating or repeating.
Social Difficulties in ASD
- Social Disinterest: Children with ASD may appear disinterested or unaware of others or surrounding events.
- Social Connection: They may struggle to connect with others, play together, or form friendships.
- Physical Contact: Some children with ASD prefer to avoid physical contact, like being touched, held, or cuddled.
- Imaginative Play: They may have difficulty engaging in pretend play, group games, imitating others, or using toys creatively.
- Understanding Emotions: Difficulties understanding or talking about emotions.
- Social Communication: Basic social interaction can be challenging for children with ASD.
Precursor Skills Deficits
- Joint Attention: Children with ASD often lack the ability to engage in joint attention, which is essential for understanding shared experience.
- Protoimperative Pointing: They may struggle with protoimperative pointing, used to obtain desired objects.
- Protodeclarative Pointing: They may struggle with protodeclarative pointing, used to share interest in an object.
Diagnosis of ASD
- Two-Stage Process: Diagnosis typically involves two stages. The first stage includes general developmental screening during well-child checkups. Children with developmental concerns are referred for further evaluation.
- Multidisciplinary Evaluation: The second stage involves a comprehensive evaluation by a team of healthcare professionals specializing in different areas.
Screening Tools for ASD
- CHAT (Checklist for Autism in Toddlers): A screening tool for 18-month-old children used in primary care settings.
- M-CHAT (Modified Checklist for Autism in Toddlers) A 23-item parent questionnaire with high sensitivity and specificity.
Diagnostic Criteria for ASD
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Key Criteria: To meet the diagnostic criteria for ASD, children must exhibit at least 6 items across three categories:
- Qualitative Impairment in Social Interaction
- Qualitative Impairments in Communication
- Restricted, Repetitive, and Stereotyped Patterns of Behavior, Interests, and Activities
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Additional Criteria: Children must also have a delay or abnormal functioning in at least one of the following areas before the age of 3:
- Social interaction
- Language
- Symbolic or imaginative play
- Exclusion: The disorder must not be better explained by other developmental disorders, such as Rett disorder or childhood disintegrative disorder.
Diagnosis: Further Evaluation
- Physical Examination: Physical exams, including head circumference, audiologic evaluation, and speech and language evaluation.
- Physical Stigmata: Examination for signs of Tuberous sclerosis, Fragile X syndrome, or Angelman syndrome.
- Lead Testing: Lead level testing may be warranted if pica is present.
- Chromosomal Analysis: Chromosomal testing considered if there are mental retardation or dysmorphic features.
- EEG: Electroencephalogram (EEG) assessment for developmental regression or seizures.
Treatment of ASD
- Early Intervention: Research shows intensive behavioral therapy, particularly during the toddler and preschool years, can improve cognitive and language skills in young children with ASD.
- ABA Therapy: Applied behavior analysis (ABA) focuses on shaping and reinforcing desirable behaviors, such as learning to speak and play, while reducing undesirable behaviors. ABA involves intensive, one-on-one interaction for up to 40 hours a week.
- Other Interventions: ABA has led to the development of similar interventions aimed at helping individuals with ASD reach their potential.
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Description
This quiz covers the history, definition, and diagnostic criteria of Autism Spectrum Disorder (ASD). It also explores the genetic and environmental factors that contribute to its development. Test your knowledge on key concepts related to ASD and its complexities.
