Autism Spectrum Disorder Overview
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Questions and Answers

Which of the following is NOT a characteristic symptom of ASD?

  • Repetitive patterns of behavior
  • Persistent deficits in social communication
  • Impairment in important areas of functioning
  • Excessive emotional regulation (correct)

    • What percentage of heritability is estimated to be linked to genetics for ASD?

  • Over 75%
  • Over 50%
  • Over 90% (correct)
  • Over 95%

    • Which of the following prenatal factors is associated with an increased risk of ASD?

  • Advanced parental age (correct)
  • Mother's high levels of physical activity
  • Maternal obesity
  • Low vitamin D levels in pregnancy

    • Epigenetic mechanisms are believed to alter the risk for ASD through what process?

    <p>Chromosomal histone modification</p> Signup and view all the answers

    Which of the following agents is classified as a potential teratogen that may increase ASD risk?

    <p>Lead exposure</p> Signup and view all the answers

    What is the role of prenatal viral infections in relation to ASD?

    <p>They can enhance the mother's immune response.</p> Signup and view all the answers

    Which treatment approach is most commonly discussed for managing ASD symptoms?

    <p>A combination of therapies including behavioral and educational support</p> Signup and view all the answers

    Which statement accurately reflects a factor contributing to the onset of ASD?

    <p>The interaction of genetic predisposition and environmental factors contributes to ASD risk.</p> Signup and view all the answers

    What is a significant risk factor for Autism Spectrum Disorder (ASD) associated with maternal health?

    <p>Gestational diabetes</p> Signup and view all the answers

    Which of the following chromosomes has been implicated in the heritability of autism?

    <p>Chromosome 7q</p> Signup and view all the answers

    How does the male to female ratio for autism compare to that of Asperger's Disorder?

    <p>4:1 for autism, 8:1 for Asperger's</p> Signup and view all the answers

    What is the primary focus of the locus coeruleus–noradrenergic system theory regarding autism?

    <p>Developmental dysregulation</p> Signup and view all the answers

    Which behavior is commonly observed in children with autism spectrum disorders?

    <p>Regression in communication skills</p> Signup and view all the answers

    Which symptom area is NOT typically affected in autism spectrum disorder?

    <p>Physical coordination</p> Signup and view all the answers

    What is the concordance rate for autism in monozygotic twins compared to dizygotic twins?

    <p>60-90% in monozygotic, 0% in dizygotic</p> Signup and view all the answers

    Which behavior may indicate a need for immediate evaluation by a pediatrician in a child under 18 months?

    <p>No big smiles by 6 months</p> Signup and view all the answers

    What is a key indicator of autism in children by 12 months of age?

    <p>Lack of response to name</p> Signup and view all the answers

    Which of the following behaviors is typical of children on the autism spectrum?

    <p>Showing disinterest in social interactions</p> Signup and view all the answers

    At what age should a child typically begin to speak single words?

    <p>16 months</p> Signup and view all the answers

    Which of the following describes protoimperative pointing?

    <p>Pointing to obtain an object of desire</p> Signup and view all the answers

    What is the typical process to diagnose autism spectrum disorder (ASD)?

    <p>Two-stage process involving screening and thorough evaluation</p> Signup and view all the answers

    What is a sign that may indicate difficulties in understanding emotions in children with autism?

    <p>Trouble understanding or talking about feelings</p> Signup and view all the answers

    Which screening tool is designed for early detection of autism in toddlers?

    <p>Checklist for Autism in Toddlers (CHAT)</p> Signup and view all the answers

    What is a common behavior seen in children with autism regarding their social interactions?

    <p>Difficulty with basic social interactions</p> Signup and view all the answers

    What is required to meet the diagnostic criteria for autism regarding the number of items?

    <p>A total of 6 items from the specified categories</p> Signup and view all the answers

    Which area must show a qualitative impairment to qualify under the diagnostic criteria?

    <p>Social interaction</p> Signup and view all the answers

    Which of the following must be included to satisfy the requirements for communication impairment?

    <p>Lack of variety in spoken language</p> Signup and view all the answers

    At what age must delays or abnormalities in functioning begin to meet the diagnostic criteria?

    <p>Before age 3</p> Signup and view all the answers

    What is NOT an acceptable alternative diagnosis to autism according to the criteria?

    <p>Learning disability</p> Signup and view all the answers

    Which of the following describes an example of restricted and repetitive behavior relevant to autism diagnosis?

    <p>Preference for routine and sameness</p> Signup and view all the answers

    What does not count as a sign of social interaction impairment in the criteria?

    <p>Proficient use of verbal language</p> Signup and view all the answers

    Which factor distinguishes autism from other disorders in the diagnostic criteria?

    <p>Lack of imaginative play</p> Signup and view all the answers

    Which of the following is NOT a characteristic of stereotyped patterns of behavior in autism?

    <p>Intense interest in abstract concepts</p> Signup and view all the answers

    What is macrocephaly, and how is it related to Autism Spectrum Disorder (ASD)?

    <p>Enlarged head size seen in some individuals with ASD</p> Signup and view all the answers

    What type of analysis is recommended if a child with ASD shows dysmorphic features?

    <p>Chromosomal analysis</p> Signup and view all the answers

    Applied Behavior Analysis (ABA) therapy primarily aims to address which of the following?

    <p>Shape and reinforce positive behaviors</p> Signup and view all the answers

    Which condition requires lead level checks in the context of autism diagnosis?

    <p>Pica</p> Signup and view all the answers

    Which of the following characteristics is associated with Angelman syndrome, which may appear in autism assessment?

    <p>Ataxic gait and broad mouth</p> Signup and view all the answers

    For better treatment outcomes in young children with ASD, when is intensive behavioral therapy most effective?

    <p>During toddler or preschool years</p> Signup and view all the answers

    What is a common diagnostic examination for identifying physical features associated with autism?

    <p>Wood lamp examination</p> Signup and view all the answers

    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.
    • 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

    • 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
    • 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.

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