Cours: Neurodevelopmental Diseases and Schizophrenia
47 Questions
1 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is the IQ range for someone with severe intellectual disability?

  • IQ 20-35 (correct)
  • IQ < 20
  • IQ 50-70
  • IQ 35-50

    • What is an accurate description of syndromic intellectual disability?

  • Intellectual disability caused by a single genetic mutation.
  • Intellectual disability that affects social interactions and communication skills.
  • Intellectual disability associated with other physical or medical conditions. (correct)
  • Intellectual disability caused by a combination of genetic and environmental factors.

    • What percentage of the general population is affected by Intellectual Disability (ID)?

  • 2.5%
  • 0.1%
  • 1.0%
  • 0.4% (correct)

    • In the context of Intellectual Disability, what is the meaning of 'adaptive functioning'?

    <p>Ability to perform everyday tasks and live independently. (C)</p> Signup and view all the answers

    Which of the following research papers is NOT referenced in the provided content?

    <p>Iacoboni and Dapretto, Nature Reviews Neuroscience 7 (2006), 942–951. (B)</p> Signup and view all the answers

    Which of the following is NOT considered an 'environmental' risk factor for schizophrenia?

    <p>Reduced size of the amygdala (D)</p> Signup and view all the answers

    What does the presence of enlarged ventricles in a sibling with schizophrenia typically suggest?

    <p>Shrinkage of brain tissue (C)</p> Signup and view all the answers

    According to the information, which brain structure is NOT explicitly mentioned as being reduced in size in individuals with schizophrenia?

    <p>Ventricles (A)</p> Signup and view all the answers

    What type of cellular abnormality is specifically mentioned in relation to schizophrenia?

    <p>Disturbed cell polarity (D)</p> Signup and view all the answers

    Which of the following describes observed changes in the brain's cellular structure in schizophrenic patients as presented in the content?

    <p>Reduced spine density on apical dendrites (C)</p> Signup and view all the answers

    What factor related to gestation is identified in the content as an environmental risk factor for schizophrenia?

    <p>Problems during labor/birth (C)</p> Signup and view all the answers

    Which neurotransmitter systems have altered transmission in schizophrenia, according to the content?

    <p>Dopamine and Glutamate (D)</p> Signup and view all the answers

    Based on the provided information, what physical change is associated with schizophrenia, besides reduced size of some brain areas?

    <p>Enlarged ventricles (A)</p> Signup and view all the answers

    Which of the following brain structures is NOT typically reduced in size in individuals with schizophrenia?

    <p>Ventricles (D)</p> Signup and view all the answers

    The dopamine hypothesis of schizophrenia suggests that positive symptoms are primarily due to:

    <p>An excess of dopamine signaling in the striatal and/or mesolimbic areas. (C)</p> Signup and view all the answers

    According to the information provided, which type of dopamine receptor is thought to be primarily involved in the negative symptoms of schizophrenia?

    <p>D1 receptors in the prefrontal cortex (D)</p> Signup and view all the answers

    What is the primary focus of the NMDAR hypofunction hypothesis in relation to schizophrenia?

    <p>The role of glutamate transmission in symptoms. (C)</p> Signup and view all the answers

    A unique neuropsychological characteristic often found in schizophrenic patients, when compared with non-affected twins is their difficulty with:

    <p>Following a moving pendulum smoothly. (A)</p> Signup and view all the answers

    Which of the following maturational processes are described as being potentially perturbed in schizophrenia?

    <p>Apoptosis, synaptic pruning, and myelination. (B)</p> Signup and view all the answers

    Changes in which neurotransmitter system are implicated in schizophrenic symptoms, beyond dopamine?

    <p>Glutamate (B)</p> Signup and view all the answers

    Compared to their unaffected twin siblings, individuals with schizophrenia often exhibit:

    <p>Reduced activity in the frontal cortex both at rest and during tasks. (C)</p> Signup and view all the answers

    Which mental disorder has the highest prevalence in both the US and Europe according to the provided data?

    <p>Major depression (A)</p> Signup and view all the answers

    What is a defining feature of psychosis as it relates to schizophrenia?

    <p>Distortion of reality (A)</p> Signup and view all the answers

    What term did Eugen Bleuler use to describe the disorder now known as 'Dementia Praecox'?

    <p>Schizophrenia (D)</p> Signup and view all the answers

    Which of the following is considered a negative symptom of Schizophrenia?

    <p>Alogia (D)</p> Signup and view all the answers

    What percentage of monozygotic twins are at risk of developing schizophrenia if one twin has the disorder, according to the information provided?

    <p>50% (C)</p> Signup and view all the answers

    Which of the following is NOT a cognitive function disturbed in schizophrenia?

    <p>Motor skills (D)</p> Signup and view all the answers

    Which of the listed mental disorders has the largest difference in prevalence between the US and Europe?

    <p>OCD (obsessive compulsive disorder) (C)</p> Signup and view all the answers

    Besides genetics, what other contributing factors are stated as playing a role in the development of schizophrenia?

    <p>Environmental factors (B)</p> Signup and view all the answers

    According to the provided content, approximately what percentage of patients diagnosed with schizophrenia experience a full recovery with no residual symptoms?

    <p>5-10% (C)</p> Signup and view all the answers

    What is a key characteristic that distinguishes schizophrenia from other neurodevelopmental disorders, as described in the content?

    <p>Manifestation of symptoms generally during the second or third decade of life. (B)</p> Signup and view all the answers

    The 'multiple hits' model for the etiology of schizophrenia proposes an interaction between which two broad categories of factors?

    <p>Genetic predispositions and exposure to environmental stressors. (D)</p> Signup and view all the answers

    Which of the following neurological deficits were noted as common among both schizophrenic patients and their non-schizophrenic relatives?

    <p>Impaired cognitive skills, attention deficits, and irritability. (A)</p> Signup and view all the answers

    According to the Mirsky and Duncan model, when does schizophrenia emerge?

    <p>When the combination of environmental stressors and brain abnormalities exceeds a threshold value. (B)</p> Signup and view all the answers

    Which researcher is credited with first describing autism in 1943?

    <p>Leo Kanner (D)</p> Signup and view all the answers

    The data provided in the graph regarding synapses per mm3 suggests what happens with the quantity of synapses during development?

    <p>The number of synapses per mm3 peak quickly and decrease with age. (C)</p> Signup and view all the answers

    Which of the following is NOT identified as a key characteristic of autism spectrum disorders?

    <p>Increased empathy and emotional range (B)</p> Signup and view all the answers

    According to the diagnostic criteria for autistic disorder, which of the following is NOT a common sign of impaired social interaction?

    <p>Excessive sharing of enjoyment and interests with others (C)</p> Signup and view all the answers

    Which of the following best describes a communication impairment commonly seen in individuals with autism spectrum disorder (ASD)?

    <p>Impairment in initiating or sustaining conversations with others. (D)</p> Signup and view all the answers

    Which statement accurately reflects the rates of autism in the general population according to the provided content?

    <p>The population incidence of autistic disorders is between 3 and 6 per 1000. (A)</p> Signup and view all the answers

    What is the approximate sibling recurrence risk for autism spectrum disorder (ASD), based on the provided information?

    <p>Approximately 4.5% (C)</p> Signup and view all the answers

    Which of these conditions is frequently associated with an increased risk of autism?

    <p>Rett syndrome (C)</p> Signup and view all the answers

    Which of the following is often described as a common feature in conceptualizations of autism-related disorders?

    <p>Qualitative deficits in social behavior and communication (D)</p> Signup and view all the answers

    According to the provided text, what is the concordance rate for autism in monozygotic twins?

    <p>Around 60% for classical autism, up to 92% for full spectrum (D)</p> Signup and view all the answers

    Which of the following has been identified as an 'environmental' stressor potentially linked to autism?

    <p>Maternal use of certain anticonvulsants (C)</p> Signup and view all the answers

    What is considered one of the primary findings in genome-wide linkage studies related to autism?

    <p>Genes linked to synaptogenesis and axon guidance (B)</p> Signup and view all the answers

    Which of the following best describes the relationship between language development and autism spectrum disorder (ASD)?

    <p>A delay in, or total lack of, spoken language is common in individuals with ASD. (B)</p> Signup and view all the answers

    Flashcards

    Synapses per mm³

    The density of synapses in the brain, measured at 108 per mm³.

    Schizophrenia symptoms

    Neurological deficits evident in childhood, including impaired cognitive skills and attention deficits.

    Nature vs. Nurture

    The interplay between genetic predisposition and environmental influences in schizophrenia.

    Threshold model

    Schizophrenia emerges when environmental and biological factors exceed a certain threshold.

    Signup and view all the flashcards

    Recovery in Schizophrenia

    5-10% recover completely; 75% improve within 3 years of diagnosis.

    Signup and view all the flashcards

    Residual signs

    Post-improvement symptoms like memory or sleep issues often remain in patients.

    Signup and view all the flashcards

    Autism spectrum disorder

    A neurodevelopmental disorder characterized by social interaction deficits and repetitive behaviors.

    Signup and view all the flashcards

    Leo Kanner

    The psychologist who first described autism in 1943.

    Signup and view all the flashcards

    Environmental risk factors

    Factors like viral infections or poor nutrition that increase schizophrenia risk.

    Signup and view all the flashcards

    Enlarged ventricles

    Increased brain ventricle size linked to brain tissue shrinkage in schizophrenia.

    Signup and view all the flashcards

    Ventricle size

    The size of brain ventricles can differ by gender and age.

    Signup and view all the flashcards

    Hippocampus and amygdala size

    Reduced size of these brain regions is associated with schizophrenia.

    Signup and view all the flashcards

    Cortical connections

    Changes in brain structure and function affecting dopamine and glutamate transmission.

    Signup and view all the flashcards

    Cell polarity disturbances

    Altered cell organization observed in the brains of schizophrenia patients.

    Signup and view all the flashcards

    Apical dendrites

    Tree-like structures in pyramidal cells that show reduced spine density in schizophrenia.

    Signup and view all the flashcards

    Pyramidal cells

    Neurons in the brain that show reduced density of spines in schizophrenia.

    Signup and view all the flashcards

    Schizophrenia

    A mental disorder characterized by distortions in thought, perception, emotions, language, and sense of self.

    Signup and view all the flashcards

    Dopamine Hypothesis

    A theory suggesting that positive symptoms of schizophrenia are due to excess dopamine signaling in specific brain areas.

    Signup and view all the flashcards

    Negative Symptoms

    Symptoms of schizophrenia that reflect a decrease in normal function, often linked to dopamine deficits.

    Signup and view all the flashcards

    Glutamate System

    A neurotransmitter system that also plays a role in schizophrenia; linked to NMDAR hypofunction.

    Signup and view all the flashcards

    Reduced Frontal Cortex Activity

    Lower activity observed in the frontal cortex of schizophrenic patients, impacting cognition and decision-making.

    Signup and view all the flashcards

    Neurodevelopmental Background

    The concept that schizophrenia may arise from disruptions in brain maturation processes such as apoptosis and synaptic pruning.

    Signup and view all the flashcards

    Eye Tracking Dysfunction

    A neuropsychological characteristic where schizophrenic patients struggle to smoothly follow moving objects.

    Signup and view all the flashcards

    Positive symptoms

    Symptoms of schizophrenia that add behaviors, such as hallucinations and delusions.

    Signup and view all the flashcards

    Psychosis

    A feature of schizophrenia involving a distortion of reality, hallucinations, and delusions.

    Signup and view all the flashcards

    Genetic vulnerability

    Increased risk of schizophrenia linked to genetic factors seen in family studies.

    Signup and view all the flashcards

    Environmental factors

    External influences that can contribute to the onset of schizophrenia aside from genetics.

    Signup and view all the flashcards

    Lifetime risk

    The probability of developing schizophrenia in a person's lifetime, roughly 1%.

    Signup and view all the flashcards

    Cognitive disturbances

    Impairments in basic functions like attention, memory, and processing speed in schizophrenia.

    Signup and view all the flashcards

    Intellectual Disability (ID)

    Significantly sub-average intellectual functioning, typically IQ < 70.

    Signup and view all the flashcards

    Levels of Intellectual Disability

    Classified by IQ ranges: profound (<20), severe (20-35), moderate (35-50), mild (50-70), borderline (70-85).

    Signup and view all the flashcards

    Adaptive Functioning

    Significant limitations in skills like communication, self-care, and social skills.

    Signup and view all the flashcards

    Onset of ID

    Onset must occur before the age of 18 years.

    Signup and view all the flashcards

    Syndromic vs Non-Syndromic ID

    Syndromic ID has identifiable syndromes (e.g., Down syndrome), while non-syndromic ID does not.

    Signup and view all the flashcards

    Autism onset

    Autism symptoms usually begin before three years of age.

    Signup and view all the flashcards

    Signs of autism

    Observable behaviors indicating autism, such as lack of interaction, avoidance of eye contact, and delayed language development.

    Signup and view all the flashcards

    Repetitive behaviors

    Behaviors such as rocking or repetitive movements often seen in preschool-aged children with autism.

    Signup and view all the flashcards

    Diagnostic criteria: Social interaction

    Qualitative impairments in social interactions with at least two specific symptoms noted.

    Signup and view all the flashcards

    Qualitative communications impairments

    Communication issues in autism, evidenced by delays in spoken language and impaired conversation skills.

    Signup and view all the flashcards

    Restricted behaviors

    Patterns of restricted, repetitive behaviors including adherence to routines and intense interests.

    Signup and view all the flashcards

    Rett syndrome

    A rare genetic disorder categorized under the autism spectrum disorder umbrella.

    Signup and view all the flashcards

    Sibling recurrence risk

    Risk of autism in siblings is approximately 4.5%, indicating a hereditary trend.

    Signup and view all the flashcards

    Concordance rate

    Rate of similarity for autism in identical twins (around 60%) compared to fraternal twins (3-10%).

    Signup and view all the flashcards

    Environmental stressors

    Factors like medication use and viral infections that may contribute to the risk of developing autism.

    Signup and view all the flashcards

    Study Notes

    Neurodevelopmental Diseases

    • Neurodevelopmental diseases are characterized by abnormal mental functions and disturbed behavior.
    • Prevalence of mental disorders in the US and Europe (Switzerland included): Major depression (5.3%/5.7%), PTSD (3.6%/2.3%), OCD (2.4%/0.7%), Panic disorders (1.6%/1.2%), Schizophrenia/psychotic disorder (1.3%/1.2%), Bipolar disorder (1.1%/0.7%), Autism Spectrum Disorders (0.1-0.2%/1-2%), Anorexia nervosa (0.1%/0.1%).

    Schizophrenia

    • Schizophrenia is a brain disorder causing abnormal mental functions and behavior.
    • Key symptoms include:
      • Cognitive symptoms: impaired attention, memory, and executive function.
      • Positive symptoms: hallucinations, delusions, thought disorder.
      • Negative symptoms: social withdrawal, alogia, anhedonia.
    • Emil Kraepelin, 1919, named Dementia Praecox.
    • Eugen Bleuler, 1911, introduced the term Schizophrenia.
    • Psychosis is a hallmark of schizophrenia (distortion of reality), with hallucinations and delusions.
    • Important feature: lack of insight.

    Vulnerability to Schizophrenia

    • Vulnerability to schizophrenia is linked to genetic factors, evidenced by studies of families, twins, and adoption.
    • The lifetime risk of developing schizophrenia is about 1% in the general population.
    • The concordance rate is 50% in monozygotic twins and ~17% in dizygotic twins.
    • Environmental factors also play a role.

    Environmental Risk Factors

    • Viral infection during fetal development.
    • Exposure to toxic, traumatic, or autoimmune insults.
    • Poor maternal nutrition.
    • Problems during gestation (e.g., during labor/birth).

    Physical Changes in Schizophrenia

    • Enlarged ventricles indicate shrinkage of brain tissue.
    • Reduced size of hippocampus and amygdala.
    • Changes in fine structure and function of cortical connections.
    • Disturbance in dopamine and glutamate transmission is seen.

    Dopamine Hypothesis

    • Antipsychotic drugs (D2 receptors) effectively treat some patients, suggesting excess dopamine signaling (striatal/mesolimbic areas) is responsible for positive symptoms.
    • Negative symptoms are likely due to dopamine deficits in the prefrontal cortex, possibly mediated by D1 receptors.

    Glutamate System

    • Evidence points to a contribution of the glutamate system in schizophrenia, specifically NMDAR hypofunction.
    • NMDA agonists/antagonists show effects on symptoms in healthy subjects.

    Functional Changes in Schizophrenia

    • Reduced activity in the frontal cortex of patients compared to unaffected counterparts, at rest and during tasks.

    Neuropsychological Characteristics

    • Neuropsychological characteristics differ between schizophrenic and unaffected twin siblings.
      • Eye tracking, for example, shows that schizophrenics have difficulty with smooth pendulum movements.

    Neurodevelopmental Background of Schizophrenia

    • Maturation processes such as apoptosis, synaptic pruning, and myelination are perturbed.
    • Schizophrenia manifests more during adolescence.

    Autism Spectrum Disorder (ASD)

    • Autism is defined by deficits in social interaction, impaired communication, and unusual repetitive behaviors.
    • The majority of patients have intellectual disability.
    • First described by Leo Kanner, 1943.
    • Often diagnosed in infancy prior to age three.
    • Repetitive behaviors often emerge during preschool years.
    • Common observations concern sensory overload and avoidance of novel stimuli.

    Autistic Children

    • Common characteristics in autistic children include avoidance of eye contact, resistance to physical contact, severe communication troubles (e.g., language acquisition), and repetitive or automatic actions (like rocking).
    • Autistic children may or may not be affected by intellectual disability.

    Diagnostic Criteria (ASD)

    • These criteria are related to social interaction, communication, and behavior.

    Autism Spectrum Disorder (ASD) Facts/Prevalence

    • High rates of sibling recurrence risk.
    • 3 to 6 per 1,000 people affected, with higher prevalence in males.
    • High concordance rates in monozygotic twins (60-92%).

    Autism as an "Under-connectivity" Syndrome

    • Genome-wide linkage studies reveal many genes linked to synaptogenesis and axon guidance.
    • This suggests an under-connectivity syndrome.

    Environmental Factors (ASD)

    • Examples include thalidomide use, certain viral infections (rubella, influenza, cytomegalovirus), and maternal anticonvulsants.

    Problems in the Study of Autism

    • Problems studying autism include the definition of brain regions most affected.
    • Defining types of alterations (structural vs neurochemical) is challenging.
    • Biochemical tools are needed to improve diagnosis, and issues associated with heterogeneity in the disorder must be addressed.

    Most Prevalent Abnormalities (Autistic Brains)

    • Reduced corpus callosum size.
    • Changes in cerebellar structure.

    Intellectual Disability (ID)

    • Defined as significantly sub-average intellectual functioning (IQ < 70).
    • Significant limitations in adaptive functioning in areas including communication, self-care, independent living, social skills, work, leisure, health, and safety.
    • Typically diagnosed prior to age 18.
    • Syndromic and non-syndromic forms exist (syndromic forms like Down syndrome), as well as autosomal conditions that require more study.

    Intellectual Disability and Genes

    • Some genes linked to ID are involved with neurite outgrowth, axon guidance, synapse formation, plasticity, and neurotransmitter release.
    • ID can arise from exposure to drugs during pregnancy, such as those in alcoholic mothers.

    Brain Anatomy in Fetal Alcohol Syndrome (FAS)

    • Brain anatomy changes due FAS are macroscopic.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Related Documents

    Developmental+Diseases_2024 PDF

    Description

    This quiz explores neurodevelopmental diseases, focusing on schizophrenia and its various symptoms. Learn about the prevalence of mental disorders and key concepts introduced by historical figures in psychiatry. Test your knowledge on the characteristics and implications of these conditions.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser