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Autism Spectrum Disorders (ASD)

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45 Questions

Autism spectrum disorders are characterized by abnormalities in communication and social interaction only.

False

The ICD-10 term for autism spectrum disorder is pervasive developmental disorder.

True

Typically, development is normal from infancy in individuals with ASD.

False

Most cases of autism spectrum disorders are manifested before the age of 5 years.

True

Autism spectrum disorders do not affect repetitive activities and interests.

False

According to DSM-5, Asperger Syndrome is classified under Autism Spectrum Disorder.

False

Children with ASD often show an obsessive desire for familiarity and can become distressed by changes in their environment.

True

Rett's syndrome is classified under DSM-5 as Autism Spectrum Disorder.

False

School-age children with ASD may exhibit persistent echolalia and unusual vocabulary for their age.

True

Adolescent children with ASD often prefer highly specific and narrow interests.

True

Smith-Lemli-Opitz syndrome is an example of an autosomal dominant disorder in the context of autism spectrum disorders.

False

NRXN1 deletion is associated with copy number variation (CNV) in autism spectrum disorders.

True

Duchenne muscular dystrophy is linked to an autosomal recessive inheritance pattern in autism spectrum disorders.

False

By the age of 4 years, normal children are typically able to form an idea of what others are thinking according to the theory of mind.

True

Trinucleotide repeat expansion is a mechanism involved in Timothy syndrome in autism spectrum disorders.

False

High functioning individuals with ASD often have pragmatic difficulties with the social use of communication.

True

Approximately 23% of individuals with ASD were classified as having IQ scores in the range of intellectual disability (IQ ≤ 70).

False

The heritability of ASD in the population is estimated to be around 90%.

True

Neuroimaging studies have shown that the brain matures along a typical trajectory in individuals with ASD.

False

Children with ASD have shown a rapid increase in prevalence when legislation allowed them access to special schools.

True

The weak central coherence (WCC) theory in autism suggests a global processing bias that explains the impaired performance of children with autism on some neurocognitive tasks.

False

A child with a communication disorder typically has good non-verbal communication skills, which differentiates it from ASD.

True

An intellectually disabled child typically has more severe impairment in language skills compared to a child with ASD of the same age.

False

The longitudinal stability of an ASD diagnosis, according to systematic reviews, ranges from 60% to 100% of children studied.

False

Children with ASD and higher IQ typically have better outcomes in adaptive ability and useful speech by the age of 5 years.

True

Atypical autism, as defined by ICD-10, strictly meets the diagnostic criteria for other syndromes within pervasive developmental disorders.

False

Most investigations indicate that atypical autism cases are less common than the ICD-10 diagnosis of autism itself.

False

The precise relationship between atypical autism cases and other pervasive developmental disorders is well understood.

False

The prevalence of atypical autism cases varies depending on the diagnostic criteria adopted.

True

For a review of Asperger syndrome, Barahona-Corrêa and Filipe (2016) should be consulted.

True

Early intensive behavioral intervention (EIBI) is the least studied preschool intervention for children with ASD.

False

There is solid evidence to support the use of sensory integration therapy for children with ASD.

False

Stimulant medications for ADHD have the same response rate in children with ASD as those without ASD.

False

There are no drugs licensed to treat core ASD symptoms.

True

ASD in DSM-5 unites four previously separate conditions to reflect scientific consensus.

True

Cognitive behavior therapy is recommended for children with ASD and poor verbal and cognitive capacity to treat anxiety disorders.

False

For a diagnosis of ASD, deficits in social communication and restricted repetitive behaviors must both be present.

True

Rett's syndrome is excluded from both DSM-5 and ICD-10 classifications.

False

Autistic aloneness refers to the child’s ability to form warm emotional relationships with people.

False

The clinical presentation of ASD is consistent across different ages and individuals.

False

Rett syndrome is caused by mutations in the MeCP2 gene located on the Y chromosome.

False

Heller's disease, also known as Childhood Disintegrative Disorder, begins after a period of normal development that usually lasts for more than 2 years.

True

Expressive and receptive language development is mildly impaired in Rett syndrome.

False

Asperger syndrome denotes a group of children with Autism Spectrum Disorder (ASD) who have no cognitive or language retardation.

True

One of the key features in children with Childhood Disintegrative Disorder is the loss of motor skills and bowel or bladder control.

True

Study Notes

Autism Spectrum Disorders (ASD)

  • Characterized by abnormalities in communication and social interaction, and restricted repetitive activities and interests
  • Development is abnormal from infancy, and most cases are manifested before the age of 5 years

Classifications of Autism Spectrum Disorders

DSM-5 Autism Spectrum Disorder

  • Single category combining four previous separate conditions

ICD-10 Pervasive Developmental Disorder

  • Childhood Autism
  • Rett's syndrome
  • Other Childhood Disintegrative Disorder
  • Overactive Disorder with Mental Retardation and Stereotyped Movements
  • Asperger Syndrome
  • Atypical Autism
  • Pervasive Developmental Disorder Not Otherwise Specified

Clinical Clues for Autistic Spectrum Disorders

Preschool Children

  • Delay or absence of spoken language
  • Lack of responsiveness to other people's feelings
  • No pretend play or social play
  • Unable to share pleasure
  • No pointing to objects to share with another person
  • Unusual hand and finger mannerisms
  • Unusual reactions to sensory stimuli

School-Age Children

  • Persistent echolalia
  • Referring to self as 'you', 'she', or 'he' beyond 3 years
  • Unusual vocabulary for child's age
  • Talks freely only about specific topics
  • Unable to join in play with other children
  • Easily overwhelmed by social and other stimulation
  • Extreme reactions to invasion of personal space
  • Difficulty managing change

Adolescent Children

  • Socially naive, not as independent as peers
  • Speech peculiarities
  • Difficulty making and maintaining peer friendships
  • Preference for highly specific, narrow interests or hobbies
  • Strong preferences for familiar routines
  • Problems using imagination

Features of Autism Spectrum Disorder

  • Deficits in social communication and social interaction
  • Restricted, repetitive patterns of behaviour, interests, or activities
  • Difficulty with joint attention, eye contact, and responding to names
  • Delayed or absent language development
  • May acquire language but misuse pronouns or repeat words
  • Difficulty with non-verbal communication and play
  • Restrictive interests and repetitive behaviours
  • May exhibit sudden anger or fear without reason
  • May be overactive, have sleep difficulties, or engage in self-injurious behaviour

Genetic Architecture of Autism Spectrum Disorders

  • Complex-additive risk from multiple genes
  • Autosomal recessive, dominant, and X-linked inheritance patterns
  • Associated with single nucleotide polymorphisms, copy number variations, chromosomal translocations, and trinucleotide repeat expansions

Understanding the Underlying Brain Systems and Structures

  • Theory of mind: understanding what others think and feel
  • Executive dysfunction: difficulties with planning, organization, and self-regulation
  • Weak central coherence: processing details rather than integrating information

Epidemiology

  • Prevalence rate: approximately 1% in high-income countries
  • Higher prevalence in boys than girls (ratio: 5-6:1)
  • Increase in diagnoses due to increased awareness, broadened diagnostic criteria, and better understanding of the disorder### Rett Syndrome
  • Caused by a sporadic mutation in the MeCP2 gene located on the X chromosome
  • X-linked condition that occurs almost exclusively in girls
  • Reported prevalence: 1 per 10,000 girls
  • Normal development in the first months of life, followed by slowed head growth
  • Arrest of cognitive development and loss of purposive skilled hand movements within 2 years
  • Stereotyped movements, such as hand-clapping and hand-wringing, develop
  • Ataxia of the legs and trunk may occur
  • Diminished interest in social environment, but may increase later
  • Severe impairment of expressive and receptive language development
  • Psychomotor retardation, with some patients developing severe intellectual disability

Childhood Disintegrative Disorder

  • Rare condition that begins after 2 years of normal development
  • May be distinct from childhood autism, hence included in DSM-5 under ASD
  • Marked loss of cognitive functions, social behavior and communication abnormalities
  • Unfavorable outcome, with loss of motor skills and bowel or bladder control
  • Condition may arrest or progress to a severe neurological condition with worsening symptoms

Asperger Syndrome, Atypical Autism, and Pervasive Developmental Disorder Not Otherwise Specified

  • Asperger syndrome remains in ICD-10, but not in DSM-5
  • Characterized by ASD without cognitive or language retardation
  • Speech may be stilted, but education functioning can be good
  • Social and communication difficulties persist, similar to other ASD children

Explore the characteristics and symptoms of Autism Spectrum Disorders, including abnormalities in communication and social interaction, and restricted repetitive activities.

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