Econstudentlog

Autism Spectrum Disorder (I)

Assburger(smbc)

I recently realized that I had actually never read a textbook like this on this topic. I did get some reading materials back when I got diagnosed so it’s not like I’ve never read anything about the stuff (and there was a lot of verbal information back then as well), but as mentioned I haven’t read a text on the topic. It was actually due to the old reading materials in question that I ended up deciding to read this book; I was looking for some other stuff the other day and I ended up perusing some of these materials (which I hadn’t seen in years), and I figured I should probably go read a book on the topic. Now I am.

The book is sort of okay. There are various complaints one might make, the most important one of which in the context of me reading the book is perhaps that children with autism-spectrum disorders grow up and become adults, and adults prefer to read chapters about adult stuff, not stuff about e.g. how to teach the preschooler with the diagnosis social skills. I’ve read roughly half the book at this point, and there’s not in my opinion been enough stuff about the adult setting at this point. Another complaint is that I as usual am somewhat mistrustful when guys like these talk about the conclusions to be drawn from some types of empirical evidence; the coverage has in my opinion been of a decidedly mixed quality in terms of the stuff dealing with behavioural interventions, in the sense that they on the one hand at one point reasonably frankly acknowledge that the evidence is sparse and of poor quality, and on the other hand later on seem to become very excited about a longitudinal study and start drawing big conclusions from that single study – which would be sort of fine, I like longitudinal studies, if not for the fact that the study was based on 6 (!) individuals. Similar things happen elsewhere in that part of the coverage – potential power issues are never mentioned in the book, at least they have not been so far – you find yourself reading about a ‘seminal’ study on 19 individuals, and then you move on to their comments about how there have been several other studies supporting those findings, including a study looking closer at 9 of the individuals involved in the original study. Sometimes it’s hard to know what to think, especially in the situations where the only people evaluating the interventions are the people who came up with them in the first place – this doesn’t seem like a particularly smart way to conduct business, though in some parts of psychology it seems to be more or less standard practice.

The stuff on behavioural interventions has in my opinion been some of the weakest stuff in the book so far, which is why I have not talked about this stuff in my coverage below. Some of the proposed interventions are incredibly expensive, and there’s probably a good reason why such things are usually not covered by public health care systems, however the authors do not really seem to consider economic aspects to be all that important, except to the extent that economic factors unfortunately restrict access to all these nice things we could do for these children; they’re aware that parents may not be able to afford the treatment options which are recommended at this point by people who would benefit from these treatment options being more widely used, but they don’t seem to be aware of the existence of things like cost-effectiveness analyses. It’s one thing to argue that there may be developmental gains to be achieved by early childhood interventions (I’ve previously done work in educational economics and I can tell you that it is a common finding in this literature that you can improve outcomes by throwing lots of money and attention after young children – a finding which should perhaps not be super surprising..), it’s quite another thing to argue that the specific interventions comtemplated are cost-effective. To be fair, cost-effectiveness is incredibly hard to evaluate when you’re contemplating evaluating interventions which may have effects lasting basically the rest of the life of the individual and the intervention is supposed to take place during the first years of a child’s life, but in my opinion you sort of need to at least pretend to try to address this aspect somehow; if you don’t, you’re quite likely to end up in a situation where it seems as if you’re acting as if there’s no (societal) budget constraint, and the authors of this book seem to me to move very close to this position at various points in the coverage.

I knew very little (nothing?) about autism-spectrum disorders before I got the diagnosis – I got diagnosed very late, in my adulthood. It’s sort of funny how you can miss important stuff like this without even knowing, and in a way it relates to a point which came up in my recent post on ethics, specifically the point that ‘bad’ people tend to think they are ‘good’ people, or at least no worse than average. How much do you really know about how good other people are at, say, interpreting nonverbal social signals? Would withdrawal from social interaction make the comparison easier or harder? If you don’t really engage in the normal patterns of non-verbal information exchanges, e.g. eye contact exchanges, during social situations, how are you to know that important information is contained in such exchanges? Individuals seem to make assumptions about these things to a large extent based on what they know themselves (about themselves?), and if you have limitations in these areas it may be difficult to figure out that this is the case; another apt analogy might be children who need glasses early on in their lives – we screen for vision impairment in young children in part because young children don’t know, and may never on their own ever realize, that the world is not supposed to be blurry, and that you’re actually supposed to be able to see all the letters written down on the blackboard.

I thought I should make one thing clear before moving on to the main text, a point particularly relevant considering the comic which I decided to start out with; which is that incompetence should not be equated with/interpreted as malicious intent. It seems to me that many people conceive of people with autism-spectrum disorders as inconsiderate jerks who don’t have a clue – I’ve seen quite smart people state relatively similar things in the past. I dislike the ‘jerk’-model because I try to be thoughtful and considerate when interacting with others, and when these people think that way I feel that they’re devaluing the work I put into this stuff. One important problem which is sort of hard to figure out how to deal with is that I’m well aware that the more thoughtful and considerate I am (…or is it: ‘try to be?’) during social encounters, the more taxing the social interactions may become, and taxing social interactions lead to social isolation and withdrawal. Coming up with a good equilibrium level of effort is not an easy task, and I think one needs to address aspects like these before making strong judgments about things like the jerkishness of specific behaviours. In a way people with social anxiety have similar concerns which other people also cannot observe (in this case it would be excessive amounts of thinking during social situations about whether they are doing stuff right now that may mean that they’ll get rejected by others, which then leads to oversensitivity to clues of rejection, leading to social avoidance because of perceived rejection). Of course people with autism-spectrum disorders may be anxious as well, as also mentioned in the coverage below. The level of self-awareness varies a lot in people with autism-spectrum disorders, but people with relatively high levels of self-awareness may certainly face some constraints and tradeoffs which are not immediately obvious to the outsider and which may actually be assumed by neurotypicals to be absent, given the diagnosis.

The textbook answered one question I’d been thinking about a few times without ever worrying enough about it to actually seek out an answer, which is the question of what the recent diagnostic changes might mean, given that I have a diagnosis which by now has been ‘retired’. It turns out that I was diagnosed with what in the textbook are considered to be the ‘gold-standard tools’, which means that this remark related to the recent diagnostic changes that have taken place seems to answer the question: “The DSM 5 noted that “Individuals with a well-established DSM-IV diagnosis of” “Asperger’s disorder” “should be given the diagnosis of autism spectrum disorder””. I’m not going to ‘ask’ for a ‘new’ diagnosis (/a ‘translation’ of my diagnosis) (and quite aside from what other people like to call this stuff, I like the word ‘eccentric’ a lot better than the word ‘autistic’…), but it’s nice to know which recommendations are being made in this area. Some of the quotes below also relate a bit to these aspects.

I’ve added some quotes from the book below.

“Autism is a developmental neurobiological disorder characterized by severe and pervasive impairments in reciprocal social interaction skills and communication skills (verbal and nonverbal), and by restricted, repetitive, and stereotyped behavior, interests, and activities. […] Autism and autistic stem from the Greek word autos, meaning “self.” The term autism originally referred to a basic disturbance, an extreme withdrawal of oneself from social life, or aloneness. […] The critical point in the scientific history of autism was in 1943, when Leo Kanner published Autistic Disturbances of Affective Conduct, a groundbreaking paper that described the symptoms of 11 children presenting similar behaviors that had not been previously recognized. […] Based on Kanner’s terminology, autism was considered for years a psychosis, and child psychiatrists were using “childhood schizophrenia” and “child psychosis” in autism as “interchangeable diagnoses.” […] A parallel line of inquiry to that of Kanner and Eisenberg is represented by the work of Hans Asperger.”

“In Autism and Pervasive Developmental Disorders, Fred Volkmar and Catherine Lord (2004) distinguished important points of differentiation and similarities between Kanner’s and Asperger’s descriptions. […] In concluding their comparison of Kanner’s and Asperger’s descriptions, Volkmar and Lord pondered whether, despite the relevant differences, it was “scientifically and clinically helpful to classify individuals with these traits into separate categories of autism or Asperger’s disorder, or whether it would be better to treat them as parts of a greater continuum.” The utility of the “greater continuum” has led to the category of autism spectrum disorder to be proposed for DSM-5. […] As a result of [various findings] and the lack of reliability in the community in making distinctions among the ASDs [Autism-Spectrum Disorders] [for example: “Variations in clinical severity among ASD cases are not valid indices of differences in pathophysiology or etiology”], the Fifth Edition of the Diagnostic and Statistical Manual (DSM-5) proposes to collapse all of these clinical syndromes into a single diagnosis of “autism spectrum disorder.” Although this revision is appropriate for community diagnosis, and thus the allocation of clinical and support services, research studies will continue to rely on research diagnostic instruments like the Autism Diagnostic Interview (ADI) and the Autism Diagnostic Observation Schedule (ADOS) [these were both part of my work-up, US] to make categorical distinctions between “autism and not autism” and “autism and autism spectrum disorder” (which includes Asperger’s disorder and PDDNOS [Pervasive Developmental Disorder Not Otherwise Specified]). These distinctions have played a vital role in advancing our understanding of the behavioral and neural profile of ASD over the past two decades”

“Recent studies and reports from the Centers for Disease Control […] have shown an increase in the prevalence of children diagnosed with an ASD to one in 110 […] The reported increase is thought to be attributable to several factors. First, there have been changes in diagnostic practices […] Second, there is greater public awareness of ASD and more case-finding […] Finally, there has been a tendency to diagnose many children with intellectual disability as PDD. […] no evidence currently exists to support any association between ASD and a specific environmental exposure. […] Numerous studies have failed to demonstrate a causal relationship between immunizations, particularly thimerosal-containing vaccines, and ASD […] The CDC (2009) reports the median age for a diagnosis of ASD to be between 4.5 and 5.5 years. […] the ASD diagnosis is four times more common for boys than in girls.”

“The essential features of Asperger’s disorder are severe and sustained impairment in social interaction (criterion A); and the development of restricted, repetitive patterns of behavior, interests, and activities (criterion B); which must cause clinically significant impairment in functioning (criterion C). There are no clinically significant delays in language (criterion D) or cognitive development (criterion E).”

“ASD (excluding Asperger’s disorder) has early language and communication impairment. […] almost two thirds of individuals with ASD also have ID [intellectual disability] […] 15%–20 % of cases of ASD are now linked to genetic or
chromosomal abnormalities […] Fragile X Syndrome (FXS) [is] the most common identifiable cause of ASD and the most common inheritable cause of ID. […] Thirty percent of individuals with FXS demonstrate characteristics of ASD.” [In some other conditions penetrance is even higher – examples that could be mentioned are 15q duplication and Timothy Syndrome, but prevalence is lower in these cases and especially in the latter case some might argue that the autism is the least of that child’s problems..]

Challenging behaviors [in individuals with ASD] may reflect pain that is not communicated verbally […] Challenging behaviors may [also] reflect the child’s difficulty with communication, changes, new places, new situations, new experiences, new sounds, new smells, and new people” [I wonder if you can spot a pattern here in terms of what these children (/people) don’t like? I think an important distinction here is to be made between curiosity and the desire to try out new things. I’m often, hesitant, about trying out new things, yet I’m also quite curious about a lot of things. Be careful which categories you apply here and how they may impact your thinking… In a related vein:] “Insistence on sameness and difficulty with change are common symptoms of an ASD. These behaviors should not typically be considered a behavior done to exert control over others.”

“Psychiatric comorbidity is now acknowledged as quite common in ASD [and] psychiatric comorbidity increases the level of impairment […] There is a handful of questionnaires [aiming at spotting psychiatric comorbidities] that have been developed specifically for use in developmentally disordered or ASD populations. […] none of the measures has the level of research support possessed by questionnaires used in other branches of psychiatry. The vast majority of these instruments have just one study behind their development, or have been studied only by the developer of the instrument. […] one of the main challenges in diagnosing psychiatric disorders in individuals with ASD is the possibility of different presenting symptoms and difficulty in differentiating impairment related to the underlying ASD from impairment due to a separate condition. […] While we do not want to miss true comorbid diagnoses, over-diagnosing comorbidity can be equally harmful. […] Mood disorders, such as depression and bipolar disorder, in ASD have recently begun to receive a great deal of attention […] there are many potential psychosocial stressors that could be possible triggers. For example, higher-functioning individuals who are aware of their deficits and badly desire friends, but lack success in this area, are at particular risk. […] Although there is little research on emotion regulation in ASD, there is clear evidence that emotion regulation is highly variable and often problematic in this population, regardless of psychiatric comorbidity […] Therefore, particularly for mood disorders, it is imperative to consider baseline functioning and not over-diagnose mood disorders when the concern may be more temperamental in nature.”

“Anxiety is considered by some to be the most common comorbid psychiatric concern in ASD […]. The DSM-IV-TR notes that individuals with ASD might have unusual fear reactions, and it is also not uncommon for there to be a general tendency toward anxiety for many individuals with ASD. […] There are many aspects of having an ASD that may lead to this increased risk for anxiety, to the degree that some consider anxiety and the social impairment in ASD to have a bidirectional relationship […] An increase in self-awareness is considered a risk factor for higher anxiety; therefore, anxiety is typically thought of as more common among individuals with ASD who have higher intellectual abilities, and older children, adolescents, and adults.”

“autism may be conceptualized as a disorder of complex information processing resulting from disordered development of the connectivity of cortical systems (e.g., failure of cortical systems specialization) […] approximately 15%–20% of infants with an older sibling diagnosed with autism will ultimately be diagnosable with ASD by three to four years of age. […] [Findings from longitudinal sibling studies] do not support the view that autism is primarily a social-communicative disorder and instead suggest that autism disrupts multiple aspects of development rather simultaneously. […] When both elementary and higher-order abilities in many domains are assessed, it becomes evident that deficits exist in several domains not considered to be integral parts of the autism syndrome, including aspects of the sensory-perceptual, motor, and memory domains. Furthermore, there are enhanced skills and impaired abilities within the same domains as deficits (e.g., memory, language, abstraction). […] Causal explanations for ASD must account for the comprehensive pattern of both deficits and intact aspects of the disorder both within and across multiple domains. […] There is no single primary deficit or triad of deficits, brain regions, or neural systems causing autism. […] Rather, autism broadly affects many abilities at the same time and systematically from its earliest presentation and throughout life. […] This pattern [can] be characterized overall as reflecting a disorder of complex or integrative information processing, which results from altered development of cerebral cortical connectivity in ASD. […] Just as the infant sibling studies have clearly demonstrated, studies of children and adults with autism have also demonstrated a broad but selective profile of deficits and intact or enhanced abilities that all reflect a relationship to information-processing demands. […] it is likely that genes affecting signaling pathways that regulate neuronal organization are strongly implicated in the etiology of autism.”

“ASD is now conceptualized as a developmental neurobiological disorder affecting elaboration of the forebrain circuitry that underlies the abilities most unique to human beings. […] Wiring the brain requires that neurons proliferate, acquire the correct identities, migrate to the appropriate locations, extend axons, and make guidance decisions with a high degree of spatial and temporal fidelity. Converging evidence indicates that more than one of these processes may be altered in various combinations to produce the heterogeneous phenotypes observed in ASD. […] Studies examining head circumference (HC) and brain volume (BV) in individuals with ASD have demonstrated altered brain growth trajectories across the lifespan. […]
• Up to 70 % of infants with ASD exhibit abnormally accelerated brain growth in the first year of life. Approximately 20% to 25% of infants in this subset actually meet formal criteria for macrocephaly (i.e., HC of 2.0 standard deviations above the mean) in the first year.
• BV is significantly larger by two to four years of life, and some children meet criteria for megalencephaly (i.e., BV 2.5 S.D. above mean).
• The first two years of life are usually a period of rapid brain growth in infants as neurons undergo significant postnatal growth in cell size and elaboration (actually overproduction) of axons, synapses, and dendrites. It is possible that this process is exaggerated somehow in at least a subset of ASD.
• Whatever the neurobiological basis, abnormal growth rates in ASD tend to decline significantly after the initial acceleration, causing an apparent “normalization” of BV by adolescence or early adulthood. […]
At the time of maximal brain growth in very early childhood, cerebral gray matter (GM) and white matter (WM) are both increased […] The frontal cortical GM and WM show the most enlargement, followed by the temporal lobe GM and WM and the parietal GM.”

“Thus far, [fMRI and fcMRI] studies have identified underconnectivity with the frontal cortex as a specific characteristic of the altered connectivity in autism, and this characteristic is present across the same wide range of domains of complex information processing that are affected in the disorder, including social, language, executive, and motor processes. […] measures of functional connectivity between specific areas have been shown to reliably predict the degree of impairment in specific domains among those diagnosed with autism. For instance, individuals with poorer social functioning measured by the ADI-R show lower functional connectivity between frontal and parietal cortices. These findings gave rise to the underconnectivity theory in autism, which now has sufficient support that it is accepted as a central feature of the pathophysiology of autism […] Results from these studies are consistent with the notion that autism is a disorder of distributed neural systems (e.g., the connections between structures rather than the structures themselves). […] Diffusion-weighted imaging measures the direction and speed of microscopic water movement in the brain, allowing inferences about the microstructure of the tissue that constrains such movement. These studies have consistently found reduced structural integrity of white matter in adults with ASD, indicating reduced anatomical connectivity […] like measures of functional connectivity, measures of anatomical connectivity derived from diffusion imaging have been shown to reliably predict symptom severity among individuals with autism.”

“In thinking about the genetic basis of autism, it is important to contrast syndromic (or complex) and non-syndromic (or idiopathic/essential) ASD. […] Syndromic ASD includes identifiable autism syndromes with known genetic causes, such as tuberous sclerosis complex, Fragile- X syndrome, Rett syndrome, and Smith-Magenis syndrome.
• Syndromic ASD is associated with a relatively higher propensity for dysmorphic features (including anatomical brain abnormalities), intellectual disability (ID), seizures, and female sex (sex ratios are almost equal).
• Syndromic ASD is also associated with a higher frequency of chromosomal abnormalities in general, many of which have been identified […]. However, it is not yet clear for many of these syndromes which features are typical of autism and which are unique.
Non-syndromic ASD is also called idiopathic autism and consists of cases with and without identifiable micro-deletions or duplications to the DNA. […] individuals with idiopathic ASD are more likely to be male, with sex ratios approximately 1:4 (F:M) but approaching 1:7 in milder cases.”

“Overall, approximately 10 % of children being evaluated for ASD are found to have an identified medical condition with a known genetic lesion such as Fragile X or tuberous sclerosis. An additional 10 % or more have an identifiable chromosomal structural abnormality or copy number variation associated with ASD. […] Recent genome-wide scans using microarray technology have demonstrated a substantial role for small chromosomal deletions or duplications (i.e., copy number variation or CNV) in the etiology of ASD. […] There is [however still] considerable debate concerning the genetic architecture underlying […] the majority of idiopathic autism. Arguments can be made for either the effects of single, but rare Mendelian causes (for which documented CNVs are presumably the tip of the iceberg) or the interaction of numerous common, but low-risk alleles. Genetic linkage and association studies have been traditionally employed to address the latter model, but have failed to consistently identify susceptibility loci.” [An important point I should perhaps make before finishing this post is that if incidence/prevalence of a condition is increasing fast in a population, which seems to be the case here, such an increase is in general considered to be unlikely to only be the result of genetic changes at the population level – that type of pattern is usually indicative of environmental factors playing an important role. It may well be that the ‘average cause’ is different from the ‘marginal cause’, and that it may be a good idea to be careful in terms of which tools to use to explain base rates and growth rates. It might be argued that increased assortative mating among nerds in Silicon Valley has increased incidence locally (I’m sure this might be argued as I’m quite sure I’ve seen this exact argument before…) and I’m not saying this may not be the case, but if close to one percent of the American population get diagnosed, what goes on in Silicon Valley probably isn’t super relevant one way or the other – only roughly 1% of the population live in that area altogether. Even if you were to argue that a similar process is going on everywhere else in the country, it sort of strains belief that ‘something else’ is not going on as well].

July 25, 2014 - Posted by | books, genetics, health, medicine, personal, Psychology

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