Autism Symptoms and Signs | A review of the DSM-IV criteria of Autism.

As several parents have contacted Translating Autism asking me to discuss the symptoms of autism spectrum disorders, I decided to write this brief post explaining the DSM-IV criteria of Autism.

Autism and related disorders are categorized within the larger concept of “Pervasive Developmental Disorders”. These disorders include: Autistic Disoder, Rett’s Disorder, Childhood Disintegrative Disorder, Asperger’s Disorder and Pervasive Developmental Disorder NOS. In this review I will focus only on the symptoms and signs of Autism, and soon I will write additional blog reviews of the diagnostic criteria for the other Pervasive Developmental Disorders.

The diagnosis of autism is made on the basis of symptoms observed or reported within 3 categories. The categories include (information in italics are examples I provide):

1. Qualitative Impairment in social interactions such as: a) impairment in the use of nonverbal behaviors (eye gaze, facial expressions, etc), b) failure to develop age appropriate peer relationships, lack of spontaneous seeking of enjoyment, interests, or achievement with others (does he/she show you something he/she made, does he/she invites you to play with him/her, etc), & c) lack of emotion reciprocity (does he/she get sad when you are sad? Does he/she show worry when you hurt yourself, etc). For diagnosis, at least two of these symptoms must be present.
2. Qualitative Impairment in communication such as: a) delay or lack of development of spoken language, b) lack of ability to initiate and maintain conversation with others, c) stereotype and repetitive language (repeating the last words you said or frequently repeating a phrase he/she heard) or idiosyncratic language (does he/she uses her own language or words for specific objects, etc, above what is expected based on the child’s age), and d) lack of varied, spontaneous make believe or interactive play (does he/she do pretend play? Does he/she engage in cooperative play with peers?). For diagnosis at least one of these symptoms must be present.
3. Restricted repetitive and stereotyped patterns of behaviors, interest, and activities such as: a) preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal in intensity or focus (is he/she obsessed with plates? Antennas? Argentina? Red dots? above and beyond what is common in today’s society – thus in most cases obsession with video games doesn’t count), b) inflexible adherence to specific, non-functional routines (do you always need to turn off the light before opening the door? etc), c) stereotyped and repetitive motor mannerisms (hand flapping, twisting, etc), and d) persistent preoccupation with parts of objects (can he/she spend hours staring at the cord of a fan, the tip of a pen, etc?) For diagnosis at least one of these symptoms must be present.

In addition to the symptoms included above, there must be a history of abnormal functioning prior to the age of 3 in at least one of these areas: Social Interaction, language use in social communication, and symbolic or imaginative play.

Also, if a diagnosis of Rett’s disorder or Childhood Disintegrative Disorder is met, such diagnoses supersede the autism diagnosis and no autism diagnosis should be provided.

Finally, note that the issue of mental retardation is not addressed anywhere in the diagnostic criteria. That is because these are two separate diagnoses that are taxonomically unrelated. The diagnosis of mental retardation is provided on the basis of IQ performance on standardize tests. If a child with autism also meets the full diagnostic criteria for metal retardation, that child may also receive a secondary diagnosis of MR, although the practice of providing such co-morbid diagnosis varies, often due to questions about the utility of such secondary diagnosis and the ability of intellectual assessment tests to accurately assess the intellectual abilities of people with Autism.

I hope you find this post useful and feel free to ask any question or request clarifications.

Nestor L. Lopez-Duran PhD
Translating Autism: An Autism Research Blog

Autism and family psychopathology: A Neuroprotective Effect?

An autism endophenotype may be identified on the basis of family psychopathology, but not in the direction you may think.

A review of: Lajiness-O’Neill, R., Menard, P. (2007). Brief Report: An Autistic Spectrum Subtype Revealed Through Familial Psychopathology Coupled with Cognition in ASD. Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-007-0464-3

A genotype refers to a specific genetic profile. A phenotype refers to the presentation (behaviors, physical features, etc) of a genotype. An endophenotype refers to specific characteristics (biological, social, cultural, etc, etc) that may influence the expression of a disorder-related genotype. In this very interesting study the researchers examined parental psychiatric history and the neurocognitive functioning of 24 kids with Autism Spectrum Disorders (5 Autism, 7 Asperger’s, 12 PDD NOS; average age 9.16) and 49 children with learning disability but not autism. Autism diagnosis was based on DSM-IV criteria via CARS and ADI-R. The researchers found a significant higher rate of mood disorders and anxiety on the maternal side of children with ASD as compared to children with LD. There was a significant higher rate of learning disabilities and ADHD in the paternal side of children with ASD as compared to children with LD. A surprising finding was noted: Children with ASD who had a history of mood disorders in the maternal side (n=9), demonstrated significantly higher visuospatial functioning when compared to children with ASD who did not have a maternal history of mood disorders (n=14). The authors reported that this is consistent with a different study that found maternal mood disorders to be associated with elevated cognitive and adaptive functioning in children with ASD (Cohen and Tsiouris, 2006). Thus, although maternal mood disorders were more common in children with ASDs than in children with LDs, high rates of of these mood disorders seem to serve a neuroprotective function.

High functioning autism vs. Asperger’s: the VIQ PIQ myth?

A review of: Spek, A.A., Scholte, E.M., Berckelaer-Onnes, I.A. (2008). Brief Report: The Use of WAIS-III in Adults with HFA and Asperger Syndrome. Journal of Autism and Developmental Disorders, 38(4), 782-787. DOI: 10.1007/s10803-007-0446-5

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.

Injury propensity among children with Autism Spectrum Disorders.

A review of: McDermott, S., Zhou, L., Mann, J. (2008). Injury Treatment among Children with Autism or Pervasive Developmental Disorder. Journal of Autism and Developmental Disorders, 38(4), 626-633. DOI: 10.1007/s10803-007-0426-9

Although many studies have examined self-injury behaviors in children with severe autism, there is limited research on injury propensity and treatment at emergency care facilities. Some parents of children with severe autism report devoting significant effort in keeping their children safe, most often beyond what would be expected when raising typically developing children. Evidence of increased propensity for injuries could help parents advocate for specific treatments, services, and training that would address this particular challenge. In this study, the researchers examined the frequency and type of injury among 138,111 children insured by Medicaid in South Carolina. The sample included 1,610 children with an autism spectrum disorder and about 44,000 children with other developmental disabilities. Children with ASDs (Autism or PDD) had statistically significantly higher rates of head, face, and neck injuries, but lower rates of sprains and strains (which seem to be more common in sporting activities). In general, children with ASDs were 21% more likely to be treated for injuries than typically developing children. In regards to specific injuries, children with ASDs were 760% more likely to have a poisoning injury as compared to typically developing kids. There was no difference between the groups in regards to injuries inflicted by others, thus this data indicate that children with ASDs are not more likely to be injured by peers or adults. However, children with ASDs were 762% more likely to be treated for a self-inflicted injury. In general this study provides some compelling evidence indicating a higher risk for injury in children with autism as compared to typically developing children.

UPDATE: A couple of readers asked me to clarify the nature of the comparisons reported. The groups compared in the results I presented were 1,610 children with autism or PDD (some of whom also had co-morbid MR or another developmental disability) and 91,571 typically developing kids. The authors did not present sufficient information to compare the same variables between these 1,610 children and children with other developmental disabilities but not ASDs.

How young is too young to diagnose autism?

A review of: Kleinman, J.M., Ventola, P.E., Pandey, J., Verbalis, A.D., Barton, M., Hodgson, S., Green, J., Dumont-Mathieu, T., Robins, D.L., Fein, D. (2008). Diagnostic Stability in Very Young Children with Autism Spectrum Disorders. Journal of Autism and Developmental Disorders, 38(4), 606-615. DOI: 10.1007/s10803-007-0427-8

In all clinical settings I have worked, there is usually a hesitation to provide a diagnosis of autism to children under 2 years of age, mostly because of the relatively limited amount of research showing stability of such early diagnoses. Instead, we were more likely to provide a PDD-NOS diagnosis (except in the most prototypical cases) and would change the diagnosis to autism within 24 months if the presentation of the disorder remained stable and diagnostic criteria were met. In this study the researchers examined the stability of diagnoses made during late infancy and early childhood. The study included 77 children (66 males) participating in a large multi-site study of early screening of autism. The children were assessed two times. At time 1, the kids were between 16-months and 35-month old (mean 27-months). At the second evaluation, the children were between 3 years-5 months and 6 years-10 months old (mean 4 years-5 months). Diagnoses were provided on the basis of 1) clinical judgment based on DSM-IV criteria, 2) Autism Diagnostic Interview (ADI-R) 3) the Autism Diagnostic Observation Schedule (ADOS) and 4) the Childhood Autism Rating Scale (CARS). At the first evaluation 46 kids were diagnosed with autism, 15 with PDD-NOS, and 16 as non-autistic. Based on clinical judgment diagnoses, 80% of the children with an autism or PDD-NOS diagnosis at time 1 remained in the same diagnostic category at time 2. Based on ADI-R, the stability was 67%. The ADOS stability was more similar to the clinical judgment at 83%. Finally, the CARS the stability dropped to 76%. Three findings are worth noting. First, regardless of diagnostic tool used, diagnoses obtained in early childhood and late infancy appear to be relatively stable with between 70 to 80% of children with a diagnosis of ASDs continuing to have the diagnosis 2 years later. Second, the low stability of the ADI-R in this young population was very surprising given the relatively high popularity of the ADI-R as a diagnostic tool. But more surprising is the equal stability of the ADOS compared to clinical judgment. Why is this surprising? Mostly because of the dramatic difference in cost between a clinical consultation and a full ADOS evaluation. Can the ADOS cost be justified if it is as reliable as a traditional clinical evaluation? It may be, because this data only addresses the issue of stability (reliability), not the validity of the diagnosis, which is highly dependent upon the training of the clinician. Thus, it is possible that the clinical judgment was stable (reached the same diagnosis at both times), but it is possible that while stable, the clinical judgment was invalid (it was wrong at both times). Although this is highly unlikely in this case (but likely in the real world where clinical diagnoses are provided by people with insufficient related training - such as most pediatricians and family physicians), this data only allow us to reach conclusions about the stability of these different diagnostic tools.

A teacher training program for children with Autism.

A review of: Probst, P., Leppert, T. (2008). Brief Report: Outcomes of a Teacher Training Program for Autism Spectrum Disorders. Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-008-0561-y

This is a brief report of a preliminary study conducted in Germany examining the effectiveness of a training program for teachers of children with ASDs. The study included 10 children (7 boys; mean age 10) receiving services from 10 teachers (8 females). Each teacher taught one child with ASDs in a special education classroom for children with Mental Retardation (MR). Based on the Childhood Autism Rating Scale (CARS), six of the 10 child participants had severe autism, three had moderate autism, and one had mild autism. The training of the teachers consisted of understanding a basic theoretical model for ASD and learning a series of evidence--based skills to address the needs of children with Autism.

It also taught practical methods and educational skills for everyday life in the classroom by focusing on ‘‘antecedent interventions’’ (Bregman et al. 2005) and comprised methods of ‘‘structured teaching’’ (Mesibov et al. 2006) as well as related techniques of ‘‘visual supports’’ (Prizant et al. 2006). The ‘‘structured teaching’’ method contains five main content areas: (1) spatial and (2) temporal structuring of the child’s social and school environment, (3) implementation of a work-learning system, (4) structured design of tasks, and (5) implementation of visual communication aids.

The training included 3 sessions provided to 2 groups of 5 teachers each. Teachers assessed the behavior of the children before the training and 9 month after the initial training session. Assessment instruments included the Classroom Child Behavioral Symptoms Questionnaire (CCBSQ) and the Classroom Teacher’s Stress Reactions Questionnaire (CTSRQ). The results showed a significant reduction of behavior problems as measured by the CCBSQ and a significant reduction of teachers’ stress as measured by the CTSRQ after the 9 month period. This study provided some early, preliminary, evidence for the effectiveness of this teacher training program. However, when evaluating preliminary research reports such as this, readers should be aware of the standard limitations of this specific methodology. First, this study was conduced with volunteer participants who were all assigned to the experimental (teacher training) methodology. Thus, it is impossible to know whether the improvement was due to the teacher training program or simply to characteristics of the children participants. For example, it is possible that these children could have improved at the same rate in other classrooms with teachers who did not attend the training program. In addition, the outcome was determined by the same teachers who were not blind to the experiment. Thus, it is possible that their reports of improvement were affected by a subjective perceived (placebo-like) effectiveness that may or may not be reflective of actual behavioral changes.