As simple background, according to the DSM-IV, the basic diagnostic distinction between autism and Asperger’s disorder is absence of clinically significant delays in language, cognitive development, and adaptive functioning in the Asperger’s group. The rest of the diagnostic criteria (impairments in social interactions, restricted repetitive and stereotype patterns of behaviors) between autism and Asperger’s is identical. This makes it difficult to differentiate children with Asperger’s from those with High Functioning Autism (HFA; i.e., those who meet the diagnosis of autism but perform in the average to above average rage in intellectual tests). Therefore, two teens with otherwise identical clinical profiles would be diagnosed differently if they differ on their history of language and cognitive delays. The child with a history of language/cognitive delays would be diagnosed with HFA and the child without a history of language/cognitive delays would be diagnosed with Aspeger’s. I mention this because any discussion about the science of the possible differences between these two categories is limited by the fact that both groups have been selected, by definition, to be different. Thus, the question is not whether these two groups are different – they are different because we have defined them differently. The question is whether these two groups actually represent two distinct typologies that go beyond the distinction of language/cognitive delay vs. no delay.

So what would drive the DSM-V to propose the merger between Asperger’s and Autism? In essence, the questions are 1) whether these two conditions represent two different disorders or are simply variations within a larger spectrum, and 2) whether having two categories, as defined today, is clinically useful. If Asperger’s and Autism are simply the same disorder separated by an arbitrary distinction (language/cognitive delays), having two categories would not help us in our understanding or treatment of the conditions, and keeping them as separate categories may be an obstacle for research because it encourages researchers to focus on a domain that may not be relevant or informative. However, if the language/cognitive delay distinction reflects differences between two truly distinct categories, the existence of two categories rather than one should help us make more effective interventions, inform our clinical decisions, or help us better understand the phenomenology of both conditions. Has this been the case?

Let me address the clinical impact of these two conditions from the perception of clinicians (Note: although I am basing these statements on my experience as a clinician interacting at academic/training settings, I admit that this may not represent the experience and practice of all clinicians). I interact weekly with graduate students who are learning how to conduct neuropsychological evaluations for children and adolescents. Often these students have already developed a schema, or prototype, of the child or adolescent with Asperger’s. They would describe such a child as someone who has intense and unusual interests, maybe superior skills in some area such as music or art, rigidity in behaviors and interests, and social and communication ‘deficits’ leading to difficulties interacting and relating to others. The problems begin when we start seeing actual assessment cases. For example, recently a doctoral intern and I sat in supervision to discuss a case of a teenage boy who could be described as having a “perfect” Asperger’s profile, fitting both the student’s schema and the DSM-IV criteria; except for one thing: the client had a documented history of language delays. There was no question about the diagnosis: If the teen had a history of “language delays’ the diagnosis is autism. My student then asked me, so if this is HFA, how does Asperger’s look like? I replied, just like this.

Therefore, in clinical settings, HFA and Aspeger’s disorder look mostly identical, assuming the clinician follows DSM guidelines. But the most important question is whether the current diagnostic difference is clinically useful.  When debating the Autism vs. Asperger’s diagnostic question, I have always asked my students and supervisors whether the diagnostic difference would change anything regarding our approach to the case. This is the most critical question: would our recommendations or conclusions change based on the final diagnosis that we provide (autism vs. Asperger’s)? The answer is usually, if not always, no. Given identical clinical profiles, the recommendation for treatment, school accommodations, parental interventions, and so forth, would be the same for two adolescents who only differ on the presence or absence of language delays in early childhood. The provision of a diagnosis of autism vs. Asperger’s may lead to different political/personal/social consequences, but clinically, the current DSM-IV distinction between these two conditions, and the research that has come out of this distinction, has not informed or improved our clinical practice (e.g., selection of treatment, assessment, prognosis, etc). This is likely one of the main reasons that led the DSM committee to suggest the merger of Asperger’s and Autism.

But why has the DSM-IV distinction failed to improve clinical services or lead to a greater understanding of these conditions? One possibility is that these two conditions are variations of a greater spectrum and that the language/cognitive delay difference is arbitrary (see for example Bennett et al., 2008 for a study showing identical clinical outcomes between HFA and Asperger’s). In such a case, the merger of the two conditions would better reflect the true nature of the conditions as a variations within a single spectrum. However, another possibility is that the DSM-IV criteria is simply wrong. Under that hypothesis, research has failed to find utility for this classification because of an erroneous diagnostic criteria which led to the incorrect classification of people. Some support for this later position was provided by the research team of Fred Volkmar at the Yale University Child Study Center (Klin et al., 2005). They proposed a new diagnostic criteria for Asperger’s disorder that was more inline Asperger’s original 1944 observation of his cases. Under this system HFA and Asperger’s would differ on 3 specific domains:

1. Nature of social impairments: HFA would be characterized by self-isolation and lack of interest while Aspeger’s would be characterized by interest in social relations and ‘seeking others’ (social motivation) but in a socially insensitive or atypical manner.

2. Nature of language impairment: HFA would be characterized by delayed, echolalic and stereotyped language while Asperger’s would be characterized by adequate or precocious language but with difficulties in the use of language (pragmatics).

3. In addition, the Asperger’s diagnosis would include one-sided verbosity and the presence of factual, circumscribed interest that interferes with the person’s functioning (e.g., education and social interactions).

Interestingly, some research has shown differences between HFA and Asperger’s when using the Klin criteria above (see for example Mazefsky and Oswald. 2006). Thus, it is possible that the lack of clinical utility of the current DSM-IV diagnostic distinction between HFA and Asperger’s is due to a lack of validity of the DSM-IV criteria rather than the lack of validity of the constructs of HFA and Asperger’s as two distinct syndromes. So why did the DSM-V committee recommend the merger of these two conditions rather than a redefinition of the Asperger’s criteria? It appears that their interpretation of the totality of the data is that there is no sufficient evidence to validate these two conditions as two separate syndromes regardless of diagnostic criteria used, and that the differences observed are better accounted for by differences in language, IQ, and severity, rather than features of the disorder.

From the DSM-V committee:

Differentiation of autism spectrum disorder from typical development and other “nonspectrum” disorders is done reliably and with validity; while distinctions among disorders have been found to be inconsistent over time, variable across sites and often associated with severity, language level or intelligence rather than features of the disorder.

Update: I just noticed that Dr. Mohammad Ghaziuddin, an accomplished autism and Asperger’s researcher and clinician working at the University of Michigan, just published an opinion piece on the Journal of Autism and Developmental Disorders arguing for a redefinition of Asperger’s rather than its merger with Autism. He argues that the current DSM-IV definition is incorrect and a new updated definition (following the Klin’s criteria outlined above) would be more accurate and clinically useful. He states:

…what is needed is a revision of its criteria taking into account, its quality of social impairment (active but oddrather than aloof and passive); idiosyncratic interests (oftensophisticated and intellectual); communication style (oftenpedantic and verbose); and age of onset/emergence of symptoms (often around 7–8 years). In addition, effortsshould continue to establish its validity not only from autism but also from other conditions.

References:

Klin, A., Pauls, D., Schultz, R., & Volkmar, F. (2005). Three Diagnostic Approaches to Asperger Syndrome: Implications for Research Journal of Autism and Developmental Disorders, 35 (2), 221-234 DOI: 10.1007/s10803-004-2001-y

Bennett, T., Szatmari, P., Bryson, S., Volden, J., Zwaigenbaum, L., Vaccarella, L., et al. (2008). Differentiating Autism and Asperger Syndrome on the Basis of Language Delay or Impairment. Journal of Autism and Developmental Disorders, 38(4), 616-625. doi: 10.1007/s10803-007-0428-7

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When conducting assessments with individuals with autism or other developmental disorders clinicians are often interested in examining the person’s  “adaptive functioning” or how the person actually functions in every day life, usually in specific domains such as communication, sociability, motor functioning, and daily living skills. Clinicians and researchers are also interested in exploring the factors that predict adaptive functioning. One obvious candidate factor is cognitive capacity, or IQ.  It is expected that the more cognitive skills you have, the better you would do in daily living demands. However, researchers have shown that for individuals with high functioning autism, cognitive functioning is not always correlated with adaptive functioning. That is, some individuals may present cognitive skills that are within normal levels, yet display impaired adaptive functioning. Yet, less is known about the relationship between cognitive functioning and adaptive skills among children with more severe autism. For example, do children with low cognitive skills present even lower adaptive functioning or do these kids show higher adaptive functioning than expected based on their cognitive skills? Knowing this information could have implications for treatment, especially for the manner we use cognitive skills as a proxy for prognosis and to guide expectations.

This was one of a number of questions addressed by a team of researchers associated with York University in Canada. Their findings will soon be published in the Journal of Autism and Developmental Disorders. In this study, the authors examined 192 children with a DSM-IV diagnosis of autism, 66 children with a diagnosis of PDD-NOS, and 28 children with a diagnosis of mental retardation without autism. The authors were interested in examining IQ and scores and parental reports of adaptive functioning.

The authors found that while controlling for age, the association between IQ and adaptive functioning varied by level of cognitive capacity.  That is:

1. Within the group with autism and average IQ, standard scores of adaptive functioning were lower than than expected based on their IQ.

2. Within the group with mild mental retardation, their IQ and adaptive functioning skills were at the same level.

3. Within the group with moderate or severe mental retardation, adaptive functioning was actually higher than expected based on their Q.

Here is a graphical representation of these results (red columns are adaptive functioning scores, blue columns reflect IQ scores, the reddish shaded area indicates impaired region):

So how do they determine the “expectation”? For example, how would you know that adaptive functioning is “lower” than “expected” based on IQ?

This is usually conducted using standardized or age equivalent scores. For example, IQ is calculated based on “normative data”. In this process, the performance on IQ measures are compared to other children of the same age and same gender. So the child receives a standardized score based on how he/she performed compared to his/her peers. In the case of IQ, a score of 100 means that 50% of other children of the same age would perform better and 50% would perform worse. This same process is done to estimate adaptive functioning scores. That is, a child may receive an adaptive functioning score of 100, also meaning that 50% of his/her peers have better adaptive functioning while 50 percent have worse. So it is possible to have adaptive functioning that is below expectation based on the child’s cognitive capacity. For example, a child may have an IQ of 100 (within the average range when compared to his/her peers) but an adaptive functioning score of 70 (significantly below average when compared to his/her peers).

In conclusion, the results  for the high cognitive functioning group suggest that studies  should not use IQ solely as an outcome measure since IQ is not necessarily an indication of how a child with autism may function in everyday life. That is, some of these kids may have IQ within the normal range, yet struggle in other aspects of functioning. The authors stated:

This has clear implications for treatment outcome studies, in which average IQ may be overvalued as a good outcome without sufficient attention to functional skills. There are also clear intervention implications, such that everyday functional skills must be actively targeted in intervention research.

But what about the low cognitively functioning group? What does it mean that these kids’ adaptive functioning is in line with or above their cognitive capacity? One possibility is that targeted interventions for these kids is usually more intense than for those with higher cognitive functioning (HFA) so that by the time of this assessment, their adaptive skills have significantly improved and now match their IQ. However, it is also possible that these findings reflect a “base” of adaptive skills. That is, there is a limit on how limited your adaptive skills may be. It is possible that both the high and low functioning groups reached near that limit, so the variation in cognitive functioning was simply unrelated to adaptive skills. This is somewhat suggested by the data, in that all children, including those with HFA, scored in the impaired category in adaptive functioning. Thus, in this sample,  adaptive functioning was impaired among all participants with autism regardless of their IQ.
The reference: Perry, A., Flanagan, H., Dunn Geier, J., & Freeman, N. (2009). Brief Report: The Vineland Adaptive Behavior Scales in Young Children with Autism Spectrum Disorders at Different Cognitive Levels Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-009-0704-9

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A review of: Coskun, M., Karakoc, S., Kircelli, F., & Mukaddes, N. (2009). Effectiveness of Mirtazapine in the Treatment of Inappropriate Sexual Behaviors in Individuals with Autistic Disorder Journal of Child and Adolescent Psychopharmacology, 19 (2), 203-206 DOI: 10.1089/cap.2008.020

In a study published in the journal of Child and Adolescent Psychopharmacology, a team of researchers from Turkey examined the effectiveness and safety of Mirtazapine (Rameron) for the treatment of inappropriate sexual behaviors in autism. The study included 10 children with a diagnosis of autism (8 boys and 2 girls, ranging in age from 5 to 16). These children had received behavioral and psychoedcucational interventions for their inappropriate sexual behaviors but these interventions did not reduce these problems. The authors described the percentage of the children who engaged in the different concerning behaviors: non-private masturbation (100%), touching people inappropriately (50%), disrobing in public (20%), sexual interest in particular body parts or nonhuman objects (20%), and observing people bathing or undressing (10%). Two of these children had a co-morbid diagnosis of ADHD and two others had a co-morbid diagnosis of depression.

The children were treated with an initial dosage of 7.5-15mg per day and this was increased according to response and side effects to a maximum of 30mg per day.

The results:
Based on the ‘excessive masturbation’ item from the Clinical Global Impressions-Improvement Scale, the authors found that:

50% of the subjects showed “very much improvement”
30% showed “much improvement”
10% showed “moderate improvement”

The researchers then concluded that the study provides support for the effectiveness of Mirtazapine in the treatment of inappropriate sexual behaviors in children with autism.

But why Mirtazapine?

Mirtazapine is relatively old anti-depressant that is still commonly used. In clinical practice Mirtazapine is often used used because (instead of despite of) some of its side effects (in specific cases desirable side effects). For example, Mirtazapine is associated with significant weight gain, thus it is commonly used for the treatment of depression in people with anorexia. Likewise, Mirtazapine is associated with severe drowsiness, thus it is often used for individuals with depression and insomnia. Thus, the selection of Mirtazapine for this study was also related to another side effect. While SSRI antidepressants (such as Prozac) are associated with sexual dysfunction (for example erectile dysfunction), Mirtazapine has been found to reduce libido (reduced sexual desire). Thus, it is sensible to expect that this medication, by reducing libido, would be effective in the treatment of inappropriate sexual behaviors.

However, the authors correctly discussed the most obvious limitation of this study: no control condition. Since there was no control group taking a placebo pill, it is impossible to tell for sure whether the improvements observed were due to the medication or to the placebo effect (e.g., the expectation by the parents that the medication was supposed to work). Thus, although the study provides some preliminary evidence of the potential effectiveness of Mirtazapine for the treatment for excessive non-private masturbation, there is a need for placebo-controlled studies using larger sample sizes.

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Much controversy and confusion remains about the differences between high functioning autism and Asperger’s syndrome. As the authors described, there are many areas of overlap as well as differences between the original Asperger’s proposal and autism.

Several aspects of Asperger’s original (1944) report suggest areas of overlap (social disability/autism) and difference from autism, e.g., preserved language ability, high rate of similar difficulty in family members, unusual fact-based special interests.

Yet, researchers, clinicians, and parents often note that such differences are not always clear cut. For example, many kids with HFA show unusual fact-based interests. In addition, according to the DSM-IV-TR, the most notable difference between HFA and AS is the presence or absence of language delay. For a diagnosis of HFA there must be a history of language delays, while for a diagnosis of Asperger’s language development must be fairly intact. But most clinicians would agree that it is very common to see kids with all the typical signs of Asperger’s (including intact language skills at the time of assessment) but with a documented history of language delays, which technically calls for a diagnosis of autism. Furthermore, new research has suggested that people with AS also show language impairment, but these impairments are not easily noted by parents or even trained clinicians. For example, last year I discussed Saalasti et al. (2008) article on this issue showing impairments in comprehension and phonological processes among children with Asperger’s.

Another issue proposed by the authors as potentially relevant was the possible differences between Asperger’s and autism in their neuropsychological functioning. Two issues are worth discussing. First, unfortunately the data on neuropsychological profiles of kids with Asperger’s and HFA are not consistent, as many studies have failed to find differences in cognitive functioning between these groups (see this review for example). Second, the most relevant question parents often ask me is “then what?” What do we gain by knowing that these two profiles differ (or not) in their neurocognitive functioning? What if AS and HFA are just variations of the same thing?

The authors respond to this question:

To simply designate ‘high-functioning autism’ as Asperger’s adds relatively little; what would be of much greater interest would be whether there is some evidence for the utility of AS as a diagnosis based on differences in implications for treatment, mechanisms of disorder, etc.

That is, examining the neurocognitive profile of these two conditions may help us better understand the developmental pathways of these disorders and design more effective treatment interventions. AS and HFA may be just variations of the same conditions, but the still unsettled question is whether such variations are significant enough, or reliable enough, to have a real impact in our understanding of the development, course, or treatment of these conditions.

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The marked gender difference in the rate of autism spectrum diagnoses has resulted in a major gender disparity in research. That is, the overwhelming majority of studies on autism are conducted with boys, and studies examining mostly girls are very rare. The study I’m reviewing today was conducted at the University of Sheffield in Greece. The author wanted to examine the rates of eating problems reported by girls with Asperger’s syndrome when compared to typically developing girls. The study included 56 girls with AS and 56 typically developing girls (Age 12 to 18). The AS was diagnosed by a multidisciplinary team via ADI and ADOS using USA cutoff points. The comparison sample was selected from the local school system. The AS and the typically developing girls were match for Body Mass Index (BMI). The girls and their mothers completed the Eating Attitude Test. This test assesses a wide range of eating behaviors (“I have gone on eating binges”) and attitudes (“I’m terrified about being overweight”) associated with several eating disorders.

The results indicated that, when compared to typically developing girls, girls with AS were more likely to endorse more symptoms associated with bulimia and food preoccupation. However, no difference between the groups were noted on dieting behaviors. The author reached the same conclusion when examining mother’s reports of their daughters eating habits and attitudes.

Please note that these results suggest increased symptoms of eating disorders among the AS girls, but this may not necessarily translate to actual diagnoses of eating disorders. That is, the study did not include a comprehensive evaluation for actual eating disorders. Thus, the differences in rates of eating disorder among the two groups of girls is unknown.

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I have documented in previous posts that clinicians and researchers have often proposed that high functioning autism and Asperger’s present a significantly different neurocognitive profile (see here and here). The belief is that children with AS tend to have a significant discrepancy between verbal and non-verbal abilities, with relatively higher verbal functioning as compared to non-verbal skills. On the other hand, children with high functioning autism tend to have relatively equal verbal and non-verbal skills. However, recently I’ve been encountering several studies that suggest that this may not be the case. As reported in this brief yet very elegant study from the Leiden University in the Netherlands, the researchers conducted a cognitive assessment of 16 adults with high functioning autism and 27 adults with Asperger’s syndrome using the WAIS-III (the most common adult IQ assessment instrument). Diagnoses were confirmed via ADI using DSM-IV criteria to differentiate HFA vs. AS. There were no differences between the groups in verbal vs. non-verbal performance (VIQ vs. PIQ). There was no pattern of high-verbal low-non-verbal scores in the Asperger’s group, with both groups scoring in the High Average range for both verbal and non-verbal composite scales. However, one global factor scale difference was observed. Adults with high functioning autism showed a significantly lower Processing Speed as compared to other factor skills such as Verbal Comprehension, Perceptual Organization, and Freedom from Distractibility. This finding was not observed in the Asperger’s group. Despite this difference (and some additional task-specific differences I didn’t mention in this review), the general findings of this study fail to support the idea that people with high functioning autism and Asperger’s can be differentiated on the basis of relative strength and weaknesses in their verbal vs. non-verbal performance as measured by standard intellectual assessment batteries.

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One of the diagnostic criteria of Asperger’s syndrome (AS) is normative language development, or more specifically: no evidence of language delays. However, the authors of this study argued that there is evidence to suggest that people with AS have impairment in various aspects of language including production and comprehension, making their language fluent but “pragmatically impaired.” Their interpretation of utterances is literal, leading to problems with the understanding of humor, metaphors, idioms, etc. To better understand the nature of these deficits the researchers compared the language skills of 22 children with AS (16 boys) between 7 and 10 years of age (diagnosed via ADOS and ADI) against 22 typically developing children of similar ages and IQ who were recruited from elementary schools. The researchers examined vocabulary, phonological processing, comprehension, repetition (phonological and sentence), fluency, and auditory processing. Children with AS performed significantly worse than typically developing children in the comprehension test (Comprehension of Instructions from the NEPSY) and tended to perform worse in the phonological processing test. No other differences were found. The authors argued that lower scores in the comprehension test are likely due to deficits in self-regulation and executive function, since both skills are necessary for successful performance on the comprehension and phonological processing tests.

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When I first picked up this article I was excited because it seemed to directly address a clinical feature that some researchers and many clinicians have used to differentiate children with High Functioning Autism vs. Children with Asperger’s. We know that technically, based on DSM-IV diagnosis, the main difference between HFA and AS is the presence or absence of language delays. Kids with HFA, by definition, experience language delays, while kids with Asperger’s have typical language development. But in all clinical settings I have practiced, we have discussed other possible differences between these kids, specifically in regards to their neuropsychological profile and the nature of their limited social interaction with other peers. As for neuropsychological profile, HFA tend to have even verbal vs. non-verbal skills, while children with AS tend to have much higher verbal than non-verbal skills, consistent with the profile of children with “non-verbal learning disabilities”. In regards to their social interactions, in my clinical experience and interaction with colleagues, we see a difference in their ‘relative’ need for social companionship. In general children with HFA seem to just want to be by themselves without an explicit desire to interact with peers. They interact when necessary and when such interaction is functional, but not for the “intrinsic joy” of having social interactions. On the other hand, children with AS tend to desire close relationships with peers and explicitly talk about wanting more friends, but their social uniqueness make the establishing of such relation more difficult. Based on this last apparent clinical difference, you would expect that children with AS would experience more social anxiety due to a relative high need for social acceptance as compared to children with HFA. To test these hypotheses, a group in Finland compared 35 kids with AS, 21 kids with HFA (diagnosed via ADI and ADOS), and a large group of 353 typically developing kids of the same age (8-16 years old). The results were surprising: There was NO difference between the AS and the HFA in anxiety, social anxiety, social phobia, etc. As a group, the children with HFA/AS experienced higher level of anxiety and social phobia than the typically developing children. Furthermore, a developmental trajectory was observed. The anxiety problems tended to decrease with age in typically developing kids, but these problems increased with age in the children with HFA/AS. In summary, the data suggest that children with AS and HFA experience the same levels of social anxiety and phobias, which does not support the clinical view that these children may differ in regards to relative levels of social desirability.

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This is a Magnetic Resonance Imaging (MRI) study of the brains of children with Asperger’s (15), children with ADHD (15), and children with typical development (15). The researchers found that kids with Asperger’s and kids with ADHD did not differ in hyperactivity and inattention symptoms. However, the brains of these two groups differed from those of the typically developing kids in that kids with ADHD and Asperger’s showed less brain mass in a region called the medial temporal lobe and more brain mass in a region called the parietal cortex. However, the most interesting finding is that only the children with Asperger’s showed more brain mass in an area called the right supramarginal gyrus, which is an area of the brain that has been associated with social cognition, including theory of mind. Note: more brain mass does not necessarily mean “better”.

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The researchers created a new measure of Social Maturity (Sociability, Assertion, peer leadership, social play, coping with peers, and social sensitivity). They examined whether social maturity was related to children’s “theory of mind”, a concept at the center of many Autism theories, and which refers to the child’s ability to recognize other people’s thoughts and intentions from their actions (if you are looking under the table I recognize that you “think” something may be under the table). The researchers found that those children who score high on Theory of Mind tests also scored high on the Social maturity scale. They also found that children with autism scored lower in theory of mind and social maturity than children with typical development. But most interesting, children with Asperger’s did well on theory of mind tests, but not on social maturity tests. This suggests that children with Asperger’s diagnosis may not have impairments in theory of mind but yet they have low levels of social maturity.

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