ASD

Question 1

How did Grunva Sukhareva identify ASD?

Answer 1

In 1925, Russian child psychiatrist reported 6 boys with schizoid psychopathy. Clinical picture to that described by Asperger. In 1959 she replaced this term by “autistic psychopathy”. Her writing only translated into English in the 90s, was a woman so wasn’t taken seriously, soviet Russia so English-speaking scientists ignored her.

Question 2

How did Hans Asperger identify ASD?

Answer 2

In 1938 he discussed a case of “autistische psychopathen”. Described 4 boys with “lack of empathy, little ability to form friendships, one-sided conversations, intense absorption in a special interest, and clumsy movements”. Committed Nazi. Not taken into consideration for a long time because his work was not as academically polished as Kanner’s work. Asperger focused more on the milder form of autism than Kanner.

Question 3

How did Leo Kanner identify ASD?

Answer 3

For a long time, Kanner considered the person that discovered autism. In 1943, he reported on 11 highly intelligent children who displayed “a powerful desire for aloneness and an obsessive insistence on persistent sameness”. He named their condition “early infantile autism”.

Question 4

What is autism?

Answer 4

Symptoms include: failure to develop normal relationships, impaired development of communicative ability, and repetitive, stereotyped behaviour. More prevalent in males (4:1)

Question 5

What are the two major classes of autism?

Answer 5

1. Non-syndromic autism (‘classic’ or ‘idiopathic’ autism, 95% of cases). Does not have a known cause.
2. Syndromic autism (about 5% of cases). Syndromic autism is associated with a known genetic disorder (e.g. Rett syndrome, Fragile X syndrome, MECP2 duplication syndrome, etc.)

Question 6

How did the ICD-10 classify autism?

Answer 6

Definition included many items. Distinction between childhood autism (‘classic autism’) and other childhood disintegrative disorders. Overactive disorder with mental retardation and stereotyped movements. Then there is Asperger syndrome, Rett syndrome, and atypical autism - pervasive developmental disorder not otherwise specified (milder form of autism).

Question 7

How did the DSM-IV classify autism?

Answer 7

Distinction between autistic disorder, childhood disintegrative disorder, Asperger syndrome, Rett syndrome, and pervasive developmental disorder not otherwise specified (including atypical autism).

Question 8

How did the DSM-5 classify autism?

Answer 8

Specifies a block of ASD, and only one separate is social (pragmatic) communication disorder (disorder limited to communication - problem dealing verbally with others). Previous classification that cause problems, as there were some that didn’t fit into one of the little clusters, and therefore some were left out, hence the large collective group in DSM-5.

Question 9

What is the DSM-5 diagnostic criteria (A)?

Answer 9

Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history:
Deficits in social-emotional reciprocity, deficits in nonverbal communicative behaviours, deficits in developing, maintaining, and understanding relationships.

Question 10

What is the DSM-5 diagnostic criteria (B)?

Answer 10

Restricted, repetitive patterns of behaviour, interests, or activities, as manifested by at least two of the following:
Stereotyped/repetitive motor movements, use of objects, or speech, insistence on sameness, inflexibility in routine, highly restricted and fixated interests, and hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspect of the environment.

Question 11

What is the DSM-5 diagnostic criteria (C)?

Answer 11

Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities). In most cases, diagnosis made before 3 years of age.

Question 12

What is the DSM-5 diagnostic criteria (D)?

Answer 12

Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

Question 13

What is the DSM-5 diagnostic criteria (E)?

Answer 13

These disturbances are not explained better by intellectual disability.

Question 14

What are symptoms of mild deficits in social communication and interaction?

Answer 14

Abnormal social approach and failure of normal conversation, poorly integrated verbal and nonverbal communication, difficulties adjusting behaviour. At the edge of ‘normality’. Have to show all of these symptoms to be diagnosed with mild autism.

Question 15

What are symptoms of severe deficits in social communication and interaction?

Answer 15

Reduced sharing of interest, emotions or affect, abnormalities in eye contact and body language or deficits in understanding and use of gestures, difficulties in sharing imaginative play/making friends.

Question 16

What are symptoms of very severe deficits in social communication and interaction?

Answer 16

Failure to initiate/respond to social interactions, total lack of facial expressions and nonverbal communication, absence of interest in peers - almost catatonic state.

Question 17

What are examples of restricted, repetitive patterns of behaviour?

Answer 17

Stereotyped/repetitive motor movements, use of objects, or speech (e.g. lining up toys, echolalia - meaningless repetition of another’s speech). Insistence on sameness and inflexibility with routine. Highly restricted, fixed interests which are abnormal in intensity/focus. Hyper- or hypo-reactivity to sensory input or unusual interest in sensory aspects of the environment.

Question 18

What are specifiers of ASD?

Answer 18

With or without intellectual impairment, with or without language impairment, associated with a known medical/genetic condition (i.e. syndromic autism, 5% of cases), associated with another disorder, with or without catatonia. Better prognosis if there is absence of intellectual disability and language impairment.

Question 19

What is the clinical course of ASD?

Answer 19

Typically noticed and diagnosed before the 3rd year of life. Course of ASD is extremely variable - in some there is improvement (especially if diagnosed early), in others there is progressive deterioration in cog function. 30% of cases gradual/rapid deterioration of skills (between 1st and 2nd year). Poorer prognosis if language is absent and/or low IQ.

Question 20

What are environmental risk factors of ASD?

Answer 20

Obstetric complication. Maternal weight gain, hypertension. Maternal infections - bacterial or viral. Prenatal exposure to valproic acid. Family history of autoimmune disease - connection between mental disorder and the immune system. Folic acid supplements have been associated with decreased risk of ASD.

Question 21

What is Fetal Valproate Syndrome (FVS)?

Answer 21

Valproate is 1 of most widely prescribed anti epileptic drug. It is also a potent teratogen - produces alterations in the foetus. Linked with effects in the 1st trimester of gestation - point at which nervous system goes under developmental changes: promotes acetylation of histones which makes genes more accessible to transcription factors. Syndrome is associated with dysmorphic facial features, spina bifida, low IQ, delayed language, autism (in 9%).

Question 22

What are environmental risk factors for ASD? (continued)

Answer 22

Advance maternal age (>40), and paternal age (>50). Short inter-pregnancy intervals (<24 months). Preterm birth (<32 weeks), birthweight (<1500g), small/large for gestational age status (>95th birthweight percentile). Air pollutants, but no good evidence of this.

Question 23

What are environmental risk factors that people have found no evidence of?

Answer 23

Associations between ASD and vaccinations have been sought but not found. No evidence that antidepressants increase risk, despite earlier concerns.

Question 24

Has there been a rise in autism?

Answer 24

Prevalence of autism has been rising in the past 10 years, currently is 1 in 68 children. However, probably hasn’t been an increase - increase due to better diagnostic criteria, and children are monitored in a much tighter manner.

Question 25

What did Amaral et al., 2008 find about the neuropathology of ASD?

Answer 25

Area that is the target of research is the cerebellum (coordinates many sophisticated mental processing), superior temporal sulcus, frontal gyrus, frontal cortex, thalamus, basal ganglia, etc. Brain areas have been implicated in the • medication of the three core behaviours that are impaired in autism: social behaviour, language and communication, and repetitive and stereotyped behaviours.

Question 26

What are problems with the study of the neuropathology of ASD?

Answer 26

Investigation often complicated by the frequent co-morbidity with severe mental retardation, epilepsy, etc. Have difference in total brain volume, alterations of the structure of the neocortex (the mini column hypothesis), abnormalities of the cerebellum, abnormalities of the amygdala.

Question 27

What are differences in total brain volume?

Answer 27

MRI studies of children (18 months - 4) have a 5-10% abnormal enlargement of brain volume. Show greater increases in white than grey matter. Largest increases in grey and white matter in the frontal lobes. Majority of changes around 2 years old.

Question 28

What are alterations in the columnar structure of the neocortex: the mini column hypothesis?

Answer 28

Reduced intercolumnar width of the mini columns in dorsolateral prefrontal cortex. Suggests impairment in organisation of cell bodies and icons and dendrites. Findings suggest in ASD there should be a greater number of neurons in the neocortex.

Question 29

What is the neuropathology of the cerebellum?

Answer 29

Cerebellum enlarged relative to controls, however it is proportional to total brain volume. This was not fun in young children.

Question 30

What is the neuropathology of the amygdala?

Answer 30

Complex structure. Amygdala in boys with autism appear to undergo an abnormal developmental time course, including period of enlargement that continues into adolescence. 13-16% abnormal enlargement in young children (26-56 months) with ASD. Amygdala enlargement associated with severe anxiety and worse social and communication skills.

Question 31

What did studies on patient SM find?

Answer 31

SM had rare disorder (Urbach-Wiethe disease) causing progressive bilateral calcification of the amygdala. When examining faces, SM failed to look at eyes, however when instructed to look at eyes, could recognise expression of fear - not inability to recognise emotion, but inability to make this connection. Had abnormal increase in gaze to the mouth.