Autism Spectrum Disorders

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Questions and Answers

What is the primary aim of sensory or play therapies?

  • To replace medication entirely
  • To refine behaviour by encouraging self-exploration (correct)
  • To improve physical fitness
  • To enhance emotional awareness

Which type of therapy focuses on identifying deficiencies and teaching strategies for improvement?

  • Cognitive therapy (correct)
  • Psychodynamic therapy
  • Sensory therapy
  • Behavioral therapy

Which drug is known as a dopamine receptor antagonist used to treat symptoms associated with autism?

  • Resperidone
  • Valproate
  • Fluoxetine
  • Haloperidol (correct)

What is a common challenge with the evidence supporting various autism treatments?

<p>Evidence is clinically anecdotal (A)</p> Signup and view all the answers

Which of the following therapeutic approaches specifically targets serotonin pathways to manage autistic symptoms?

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

What is the term used to describe the genetic variations that have a high frequency in autism spectrum disorder (ASD)?

<p>Low penetrant variations (D)</p> Signup and view all the answers

What is one of the persistent deficits in social communication identified in the DSM V?

<p>Deficits in social-emotional reciprocity (A)</p> Signup and view all the answers

Which of the following is a proposed basis for the pathophysiology of autism?

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

Which of the following is NOT a symptom under the restricted, repetitive patterns of behavior as per DSM V?

<p>Difficulty with problem-solving (C)</p> Signup and view all the answers

How many genes have been implicated in autism spectrum disorder so far?

<p>Over 1,000 genes (B)</p> Signup and view all the answers

What primary role do mutations in key genes related to autism have?

<p>Affect synapse formation and function (B)</p> Signup and view all the answers

How many of the specified symptoms must be present for deficits in social communication according to DSM V?

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

Neuroligin has a partnership with which of the following to drive synapse formation?

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

Which of the following best describes 'hypo-reactivity to sensory input' under the DSM V criteria?

<p>Ignoring pain or extreme temperatures (C)</p> Signup and view all the answers

What is the primary function of the synaptic proteins mentioned in the context of autism?

<p>Control transcription and expression of genes (B)</p> Signup and view all the answers

What constitutes deficits in nonverbal communicative behaviors according to DSM V?

<p>Poorly integrated verbal and nonverbal communication (B)</p> Signup and view all the answers

Which behavior indicates restricted, repetitive patterns of interests according to DSM V?

<p>Preoccupation with unusual objects (A)</p> Signup and view all the answers

Which aspect is significantly affected by genes implicated in ASD according to the content?

<p>Cell density and connectivity (D)</p> Signup and view all the answers

What is indicative of an underlying genetic cause for autism?

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

What does neuroligin deficiency lead to in animal models concerning autism?

<p>Autistic phenotype without expected effects (D)</p> Signup and view all the answers

In social relationship development, which symptom highlights difficulties adjusting behavior to suit social contexts?

<p>Difficulties adjusting behavior (D)</p> Signup and view all the answers

What defines the polygenic nature of autism?

<p>It involves a complex regulation of multiple genes. (C)</p> Signup and view all the answers

Which of the following symptoms indicates excessive resistance to change under DSM V?

<p>Extreme distress at small changes (B)</p> Signup and view all the answers

What characterizes the process of neurite outgrowth?

<p>Growth of axons and dendrites (B)</p> Signup and view all the answers

What does a 90% coincidence of autism among monozygotic twins suggest?

<p>Genetic factors play a significant role. (C)</p> Signup and view all the answers

Which technique is used to identify genome-wide associations with autism?

<p>Genome-wide association studies (GWAS) (D)</p> Signup and view all the answers

What is a possible effect during synapse formation?

<p>Pruning synaptic structures (C)</p> Signup and view all the answers

Which factor is NOT associated with post-mortem brain studies?

<p>Increased cell cohesion (B)</p> Signup and view all the answers

What is a consequence of chromosomal rearrangements associated with autism?

<p>Identification of mutant genes (B)</p> Signup and view all the answers

What behaviour does the R451C mutation predominantly disrupt?

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

Which molecule is identified as a key player in synapse maintenance and maturation?

<p>Neuroligin-3 (A)</p> Signup and view all the answers

What must be present in early childhood for a proper diagnosis of autism spectrum disorder (ASD)?

<p>Symptoms of autism (D)</p> Signup and view all the answers

What is the relationship between NLG-3 knockout and the R451C mutation?

<p>They do not directly overlap in their effects (D)</p> Signup and view all the answers

What is the significance of the Sally Anne Test in relation to autism?

<p>It tests the ability to recognize empathy and social skills. (D)</p> Signup and view all the answers

What behavioural outcome is associated with dysfunction in GABA releasing onto D1 neurons?

<p>Reduced inhibitory signals (B)</p> Signup and view all the answers

How does the prevalence of autism differ between genders according to the content?

<p>Autism is more prevalent in the male population. (B)</p> Signup and view all the answers

Which of the following is considered a therapy approach for autism, according to the content?

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

What kind of behavior tends to be higher in females compared to males according to behavioral scoring?

<p>Empathizing behavior (C)</p> Signup and view all the answers

What happens to the synaptic number in the presence of the R451C mutation?

<p>It remains relatively normal (A)</p> Signup and view all the answers

What hypothesis is suggested regarding the brain development of males with autism?

<p>They have increased white matter subserving local neuronal connections. (D)</p> Signup and view all the answers

Which neurotransmitter's receptor is noted to increase in metabotropic form due to certain synaptic conditions?

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

How does prenatal androgen exposure relate to autism according to the content?

<p>It positively correlates with mechanisms giving rise to the autistic phenotype. (D)</p> Signup and view all the answers

What impact does the loss of neuroligin-3 function have on behavioral traits in models of autism?

<p>It models the behavioral traits of autism (B)</p> Signup and view all the answers

What is the Empathizing Quotient mentioned in the content?

<p>46 (B)</p> Signup and view all the answers

Which of the following disorders is specifically stated not to account for the disturbance associated with autism?

<p>Childhood Disintegrative Disorder (B)</p> Signup and view all the answers

Flashcards

Empathizing

The ability to understand and share the feelings of others.

Systemizing

The ability to analyze and predict the behavior of non-living systems.

Autism Spectrum Disorder (ASD)

A spectrum of neurodevelopmental conditions characterized by social communication and interaction challenges.

Extreme Male Brain Theory

The tendency for males to have a stronger preference for systemizing compared to females.

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Empathizing Quotient (EQ)

A score representing an individual's ability to empathize.

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Systemizing Quotient (SQ)

A score representing an individual's ability to systemize.

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Cognitive Neuroscience

The study of the brain and its functions.

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Childhood Disintegrative Disorder

A condition characterized by a rapid decline in cognitive and social skills in children.

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Neurogenesis (proliferation)

The process of creating new neurons from neural progenitor cells.

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Cell death

Programmed cell death, eliminating excess and faulty neurons.

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Migration

Newly formed neurons travel to their specific location in the brain.

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Neuronal Differentiation

Neurons specialize in their function, becoming specific types.

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Neurite Outgrowth

The process of growing and extending axons and dendrites.

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Synapse formation

The formation of connections between neurons, crucial for communication.

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Synaptic Sculpting

The process of refining and strengthening connections between neurons.

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Imaging studies

The study of the brain's structure and function using imaging techniques.

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DSM-5

The DSM-5, also known as the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, provides a comprehensive classification system for mental health disorders.

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Spectrum

The spectrum refers to the range of severity and characteristics within a particular disorder. This refers to Autism Spectrum Disorder.

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Triad of Symptoms in Autism Spectrum Disorder

The DSM-5 has provided a more refined and clear definition of the triad of symptoms in Autism Spectrum Disorder (ASD). These are deficits in social communication, social interaction, and restricted, repetitive behaviors.

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Social-Emotional Reciprocity

This refers to the back-and-forth exchange of social cues, such as eye contact, facial expressions, and verbal responses, that normally occur during social interaction.

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Nonverbal Communicative Behaviors

This includes nonverbal cues like facial expressions, gestures, body language, and eye contact. These help to convey meaning and emotion.

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Developing and Maintaining Relationships

This refers to the ability to build and maintain relationships with others, including making friends, engaging in social activities, and understanding social cues.

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Restricted, Repetitive Patterns of Behavior

This refers to repetitive patterns of behavior, interests, or activities that are common in ASD. Examples include stereotyped movements, repetitive speech, and fixated interests.

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Hyper-or Hypo-reactivity to Sensory Input

This refers to unusual sensory sensitivities, such as an aversion to certain textures, sounds, or lights, or a heightened sensitivity to pain or temperature.

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Rare, highly penetrant genetic variations

Genetic variations that occur rarely in the population but have a strong impact on the development of autism.

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Low penetrant genetic variations

Genetic variations that are found in a larger proportion of the population but have a smaller impact on the development of autism.

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Synaptopathy

The idea that many genes are involved in causing autism, leading to disruptions in the development and function of synapses.

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Genes that control transcription and expression

Genes that control the production and activity of other genes involved in forming and maintaining synapses.

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Genes that regulate the cytoskeleton

Genes that regulate the structure and function of dendrites, the branches of neurons that receive signals.

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Protein organizers of the synapse

Genes that coordinate the organization and function of proteins within synapses.

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Genes that control chemical transmission and excitability

Genes that directly control the flow of electrical and chemical signals within neurons, influencing neuronal excitability.

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Genes that influence developmental processes

Genes that influence the development of synapses, including the formation of connections between neurons and the stability of these connections.

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Sensory/Play Therapies

Therapies focusing on physical interaction, often involving caregivers, to enhance social engagement and improve behavioral skills.

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R451C mutation

A specific type of genetic change in the Neuroligin-3 gene, where the amino acid Arginine at position 451 is replaced by Cysteine.

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Cognitive Therapy

A type of therapy that aims to identify and address cognitive deficits, building awareness and teaching strategies for overcoming these challenges.

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Neuroligin-3 R451C Knock-in Mice

A group of mice with a specific genetic alteration in the Neuroligin-3 gene, where the amino acid Arginine at position 451 is replaced by Cysteine.

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Autism

A condition characterized by difficulties in social interaction and communication, often accompanied by repetitive behaviors. It's a spectrum disorder, meaning its severity and presentation vary from person to person.

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Drug Therapies for Autism

Treatment approach employing medications that target various neurochemical pathways to alleviate specific autistic symptoms, such as repetitive behaviors, sleep disturbances, and aggression.

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Serotonergic & Dopaminergic Drugs

Drugs that affect neurotransmitters like serotonin and dopamine, used to manage social impairments and repetitive behaviors in autism.

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Synaptic Adhesion Molecules

Molecules found on the surface of neurons that play a crucial role in forming and maintaining connections between neurons.

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Synaptic Plasticity

A complex mechanism by which neurons adapt and change their connections based on experience and activity. Important for learning and memory.

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Transmitter Pathway Targeting

A type of drug therapy for autism that focuses on regulating neurotransmitter pathways linked to behavioral disorders.

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GABA (Gamma-Aminobutyric Acid)

A neurotransmitter that is essential for regulating many brain functions, including mood, anxiety, sleep, and learning and memory. It plays a key role in inhibiting neuronal activity.

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Genetic Lesion

A type of experiment where a specific gene is removed or altered to study its function. In this case, the Neuroligin-3 gene was either completely removed (KO) or had the R451C mutation.

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Fractionatable Pathophysiology

A type of approach used to study complex disorders like autism by focusing on specific brain circuits and their involvement in different aspects of the disorder.

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Study Notes

Lecture 1 & 2 (Combined)

  • Autism Spectrum Disorders (ASD) are defined as pervasive developmental disorders (PDD) encompassing a range of behaviors.
  • ASD behaviors are considered extremes of typical (neurotypical) human behaviors, leading to a diagnosis of neuroatypical.

Neurobiological Evidence for Autism

  • Neurobiology of autism involves molecular pathways, such as neurexin/neuroligin, suggesting a "synaptopathy."
  • Neuroligin dysfunction can produce the core features of autism (triad).
  • Experimental approaches are used to understand the mechanisms by which dysfunction leads to the distinctive facets of autism.
  • Several strategies are being used for autistic therapies.
  • Leo Kanner (1943): Children described with social dysfunction, poor language, and repetitive behaviors.
  • Leo Asperger (1944): Children with social communication differences and focused special interests.
  • Triad of Autism: Impaired social interaction, impaired restricted activities focused on inanimate objects, and verbal communication or reduced language skill.
  • Asperger's syndrome: A related disorder within the broader autism spectrum.

Major Cognitive Syndromes (Not Autism)

  • Rett's Syndrome
  • Fragile X Syndrome
  • These syndromes have distinct genetic defects, but include behaviors that might be mistaken for autism.

Autism Spectrum (DSM-5)

  • Level 3: Severe deficits in verbal and nonverbal social communication, severe impairments in functioning (requiring very substantial support).

  • Level 2: Marked deficits in verbal and nonverbal social communication (requiring substantial support).

  • Level 1: Deficits in social communication noticeable in context; atypical responses to social overtures (requiring support).

  • The DSM-5 criteria have symptoms with early childhood onset (though manifestations may not become apparent until later), relevant to social demands.

  • Genetic factors play a key role in developing Autism.

  • Several genes are implicated, but a precise, single pathway leading to the condition has not been discovered.

  • Genetic architecture: a broad range of genetic variations, with both rare, high-penetrance mutations and common, low-penetrating variations, all linked to autism.

  • Synaptic dysfunction is heavily implicated in autism, particularly the interplay between neuroligin and neurexin.

  • Studies have investigated this using both animal models and analysis of human genes.

  • Animal model studies may not always precisely mirror human behavior, requiring caution in interpreting results as they do not always reflect human behavior perfectly.

  • Several therapies address symptoms, but no cure currently exists as the Pervasiveness and developmental nature of the disorder poses challenges to potential cures.

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