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?

Evidence is clinically anecdotal Signup and view all the answers

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

SSRIs 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)?

Low penetrant variations Signup and view all the answers

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

Deficits in social-emotional reciprocity Signup and view all the answers

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

Synaptopathy 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?

Difficulty with problem-solving Signup and view all the answers

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

Over 1,000 genes Signup and view all the answers

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

Affect synapse formation and function Signup and view all the answers

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

Three symptoms Signup and view all the answers

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

Neurexin Signup and view all the answers

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

Ignoring pain or extreme temperatures Signup and view all the answers

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

Control transcription and expression of genes Signup and view all the answers

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

Poorly integrated verbal and nonverbal communication Signup and view all the answers

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

Preoccupation with unusual objects Signup and view all the answers

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

Cell density and connectivity Signup and view all the answers

What is indicative of an underlying genetic cause for autism?

Sibling association Signup and view all the answers

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

Autistic phenotype without expected effects Signup and view all the answers

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

Difficulties adjusting behavior Signup and view all the answers

What defines the polygenic nature of autism?

It involves a complex regulation of multiple genes. Signup and view all the answers

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

Extreme distress at small changes Signup and view all the answers

What characterizes the process of neurite outgrowth?

Growth of axons and dendrites Signup and view all the answers

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

Genetic factors play a significant role. Signup and view all the answers

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

Genome-wide association studies (GWAS) Signup and view all the answers

What is a possible effect during synapse formation?

Pruning synaptic structures Signup and view all the answers

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

Increased cell cohesion Signup and view all the answers

What is a consequence of chromosomal rearrangements associated with autism?

Identification of mutant genes Signup and view all the answers

What behaviour does the R451C mutation predominantly disrupt?

Social interaction Signup and view all the answers

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

Neuroligin-3 Signup and view all the answers

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

Symptoms of autism Signup and view all the answers

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

They do not directly overlap in their effects Signup and view all the answers

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

It tests the ability to recognize empathy and social skills. Signup and view all the answers

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

Reduced inhibitory signals Signup and view all the answers

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

Autism is more prevalent in the male population. Signup and view all the answers

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

Behavioral therapies Signup and view all the answers

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

Empathizing behavior Signup and view all the answers

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

It remains relatively normal Signup and view all the answers

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

They have increased white matter subserving local neuronal connections. Signup and view all the answers

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

Glutamate Signup and view all the answers

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

It positively correlates with mechanisms giving rise to the autistic phenotype. Signup and view all the answers

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

It models the behavioral traits of autism Signup and view all the answers

What is the Empathizing Quotient mentioned in the content?

46 Signup and view all the answers

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

Childhood Disintegrative Disorder Signup and view all the answers

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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Description

This quiz covers the foundational concepts of Autism Spectrum Disorders (ASD), including their neurobiological underpinnings and historical perspectives from key figures like Leo Kanner and Leo Asperger. It highlights the core features of autism, various experimental approaches, and therapeutic strategies designed for autistic individuals.