Brief report: Interrater reliability of clinical diagnosis and DSM-IV criteria for autistic disorder: results of the DSM-IV autism field trial.
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The development of anorexia nervosa in a high-functioning, early adolescent, autistic female is described. This case raises the issue of co-occurrence of childhood-onset disorders sharing the phenomena of obsessions and compulsions. The role of dysregulation of the serotonergic neurotransmitter system as a common underlying mechanism in these disorders is suggested. Psychoactive agents affecting the serotonin system and in particular the atypical neuroleptic risperidone may be of value in these disorders. There is added benefit to the combined use of biological and behavioral therapies.
Rett syndrome is a disorder noted to date only in females and characterized by a pervasive developmental disability following apparently normal early infancy. In addition to gait difficulties, stereotypic hand movements, and loss of communication and purposeful hand skills, autistic-like behavior is an early sign that often results in misdiagnosis. Despite these significant clinical abnormalities, neuropathologic features are modest, and no consistent laboratory abnormality or diagnostic marker has been identified. The current status of research in RS is considered within the context of autism and other disorders in which autistic features may occur, such as the fragile X syndrome. The concept of autism as neurobiologically based behavior is developed. As such, autism is regarded as an umbrella category containing an ever-expanding list of specific disorders.
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Autism is a syndrome that consists of disturbances in social interactions, communication and imagination, and its first-choice of therapy is education. Of special interest is the period of the onset and early diagnosis of autism, and its relation to the period of intervention. In retrospective studies from questionnaire and home videotape analysis, it has been reported that autistic children display significantly less social interaction, joint attention behavior and communicative behavior compared to typical children, before 12 to 18 months of age. Although there is less evidence of a marked reduction in autistic symptomatology, early intervention studies have been found to have positive effects with significant improvements being reported in social behavior, self care, and academic skill. However, early interventions are controversial. We discuss early diagnosis and interventions in children with autism in this paper.
The majority of children with autism show deviance and socially or psychiatrically handicapping conditions throughout life. Only a small proportion of those with classical childhood autism lead independent adult lives. Others, particularly those with 'high-functioning' autism and so-called Asperger syndrome will improve enough to live an independent adult life. The level of mental retardation and other comorbid conditions (such as medical syndromes and other neuropsychiatric disorders, including epilepsy) is important in predicting outcome. An IQ below 50 around school age predicts severe restriction of social and adaptive functioning in adult life. The absence of communicative speech at 5-6 years of age is indicative of a poorer long-term overall outcome. There is a clear co-variation between IQ and level of communication, but probably there is some prognostic factor in language development apart from this. Measures of flexibility and cognitive shifting abilities tend to be good predictors of social outcome in a few studies. There is a continued need for prospective, longitudinal studies of children with autism spectrum disorders, particularly in Asperger syndrome. The role of interventions of various kinds needs to be addressed in such studies.
This pilot study examined and quantified rotational asymmetry (the tendency to turn preferentially to the right or left side). An automated device was used to measure turning (circling) in 9 children with autism and 27 normal control subjects and confirmed clinical observations of stereotypical spinning behavior in patients with autism. This behavior was significantly preferential toward the left side relative to control subjects (P = 0.0009, two-tailed). Group membership accounted for approximately 40% of variance. Although the precise causes of autism are not known, these preliminary data suggest that the spinning behavior often seen in children with neurodevelopmental disorders can be reliably measured. Furthermore, spinning in autism may most often manifest as specific right-hemispace neglect.
In 1944 the Viennese paediatrician Hans Asperger described for the first time a number of boys with so-called "autistic psychopathy" but failed to give a detailed quantitative-descriptive phenomenology of the condition. The aim of this second part of a retrospective analysis of the clinical case records of children diagnosed by Asperger and his team is to provide a quantitative, in-depth description of these children, as well as to investigate Asperger's idea of a transition from autistic psychopathic personality traits towards "normality". We examined 181 case records of children seen between 1950 and 1986 who were either clearly diagnosed with autistic psychopathy (AP) or showed autistic features (AZ). Consequently, features common to both the AP and AZ groups and the differences between them are described and compared to the current ICD-10 criteria for Asperger's syndrome. Children with AZ shared the high intelligence, the social handicap and the impairment of "instincts", but showed less severe symptoms and more distinct skills, as well as fewer co-morbid disorders than children with AP. Results suggest that there is indeed something like an "autistic phenotype" with certain deficits and assets that can be found in less handicapped children with autistic impairments. The current ICD-10 criteria do not seem to fully capture Asperger's original account of the syndrome and should be discussed anew if Asperger's syndrome is reconsidered for inclusion into diagnostic criteria in the future.
As the treatability of the syndrome of autism becomes more possible there is a great deal more interest in the effectiveness of various therapies. Although the very influential nonmedical literature cited in the Autism Research Review International Newsletter finds that dimethylglycine (DMG) is regarded as more effective than the usual psychopharmacologic drugs, there have been no studies of DMG using the currently accepted research methodology. We report a double-blind, placebo-controlled, crossover pilot study of low dose DMG and placebo in a sample of eight autistic males ranging in age from 4 years 5 months to 30 years 8 months, who completed the full 3 1/2-month study consisting of drug-free baseline periods at the beginning, end, and in-between two, 1-month double-blind trials in which DMG or placebo was given. Measures included the Campbell-NIMH rating scale, an experimental rating scale, and an individualized scale created for each child. Analysis of all three scales revealed no statistically significant differences, and parent reports were equally distributed. The major methodologic weaknesses of the study are thought to be the low dosage of DMG and the small sample size.
Structural autosome defects have rarely been described in autism. In this report, the authors describe the association of autism and mental retardation in a girl with mosaicism for a duplication of the long arm of chromosome 18 and a deletion of the short arm of chromosome 18.
Since autism was first described by Leo Kanner the view on its etiology and pathogenesis has been changing. Recently there are more data on genetic and neurobiological background of autism. At the beginning it was noticed that autism appeared more frequently among boys, in population studies it was found that autism appeared more frequently among siblings, mostly among monozygotic twins. Many disorders like Tourett syndrome and tuberous sclerosis were reported in connection with autism. Recently research is focused mostly on chromosome abnormalities: chromosome 15 (locus 15q11-13), chromosome 7 (locus 7q), chromosome 16 (locus 16p) and gens of particular receptors (GABRB3, UBE3A/E6-AP, 5-HTT). These abnormalities may also be one of the causes of autism.
Previous studies have provided conflicting evidence regarding the association of the serotonin transporter (5-HTT) gene with autism. Two polymorphisms have been identified in the human 5-HTT gene, a VNTR in intron 2 and a functional deletion/insertion in the promoter region (5-HTTLPR) with short and long variants. Positive associations of the 5-HTTLPR polymorphism with autism have been reported by two family-based studies, but one found preferential transmission of the short allele and the other of the long allele. Two subsequent studies failed to find evidence of transmission disequilibrium at the 5-HTTLPR locus. These conflicting results could be due to heterogeneity of clinical samples with regard to serotonin (5-HT) blood levels, which have been found to be elevated in some autistic subjects. Thus, we examined the association of the 5-HTTLPR and VNTR polymorphisms of the 5-HTT gene with autism, and we investigated the relationship between 5-HTT variants and whole-blood 5-HT. The transmission/disequilibrium test (TDT) revealed no linkage disequilibrium at either loci in a sample of 96 families comprising 43 trios and 53 sib pairs. Furthermore, no significant relationship between 5-HT blood levels and 5-HTT gene polymorphisms was found. Our results suggest that the 5-HTT gene is unlikely to play a major role as a susceptibility factor in autism.
Few reports have described the psychiatric co-morbidity of Noonan syndrome. While mental retardation is a common feature of Noonan syndrome, the diagnosis of autism using operational criteria has not been reported. In this paper, the authors describe the association of Noonan syndrome with autism. They propose that the co-morbid diagnosis of autism should be considered during the clinical assessment of persons with Noonan syndrome.
A study of a clinic-based sample of 25 individuals (12 females, 13 males; age at diagnosis 14.4 years, SD 7.4 years; age range 4 to 33 years) with Down syndrome (DS) and autism spectrum disorders, demonstrates that autism is by no means rare in DS. Results showed that there was a considerable delay in the diagnosis of autism as compared with children with autism who did not have DS. In 11 participants medical factors were identified that were likely to be of importance in contributing to the development of autism, and in four further participants there were factors of possible significance. Such factors include a history of autism or autism-related disorders in first- or second-degree relatives (n=5), infantile spasms (n=5), early hypothyroidism (n=3), evidence of brain injury after complicated heart surgery (n=2), or a combination of these factors. It is important that autism is recognised, identified, and fully assessed in individuals with DS in order for them to receive appropriate education and support.
OBJECTIVE: This project focused on the development of the definition of autism for DSM-IV. METHOD: Multiple sites were involved in obtaining information regarding 977 patients with the following clinician-assigned diagnoses: autism (N = 454), other pervasive developmental disorders (N = 240), and other disorders (N = 283). A standard coding system was used, and the raters (N = 125) had a range of experience in the diagnosis of autism. Patterns of agreement among existing diagnostic systems were examined, as was the rationale for inclusion of other disorders within the class of pervasive developmental disorders. RESULTS: The DSM-III-R definition of autism was found to be overly broad. The proposed ICD-10 definition most closely approximated the clinicians' diagnoses. Inclusion of other disorders within pervasive developmental disorders appeared justified. Partly on the basis of these data, modifications in the ICD-10 definition were made; this and the DSM-IV definition are conceptually identical. CONCLUSIONS: The resulting convergence of the DSM-IV and ICD-10 systems should facilitate both research and clinical service.
In autism, the abilities of communication are affected, associated with abnormalities of cognitive, sensorial and motor development. In a previous study based on a load-lifting task, we showed impairment of anticipation in children with autism as evidenced by kinematics and eletromyographic recordings [Neurosci. Lett. 348 (2003) 17]. In the present study, we assessed the cortical counterparts of the use of anticipatory postural adjustments in a group of control children and in a group of children with autism. The tasks required maintaining a stable forearm position despite imposed or voluntary lifting of an object placed either on the controlateral forearm or on a support. We investigated the differences between the two groups of children on the Event-Related Desynchronisation (ERD) which precedes movement onset in adults [Electroencephalogr. Clin. Neurophysiol. 46 (1979) 138]. Electroencephalogram (EEG) power evolution of a 6-8-Hz frequency band was averaged before and after imposed or voluntary movement onset. EEG reactivity of control and autistic children did not differ during the imposed unloading condition, but significant differences appeared in the voluntary unloading situations. Before lifting the object, control children showed an ERD above the left motor areas. An ERD also occurred above the right motor areas when the object was placed on their forearm. This indicates that the ERD can also translate the use of anticipatory postural adjustments. By contrast, children with autism did not show an ERD in the two voluntary situations. This suggests a central deficit of anticipation in both postural and motor control in children with autism.
By providing the first description of infantile autism Leo Kanner (1894-1981) has substantially influenced the field of child and adolescent psychiatry. The classification of the disorder seems to be evolving with progress in clinical and diagnostic research, epidemiology and genetics. In the current classification systems of ICD-10 and DSM-IV, Kanner's name is merely mentioned, in contrast to other specified pervasive developmental disorders. This article draws attention to Kanner's early scientific career at Berlin's Charité University Hospital which ended in 1924 with Kanner's emigration to the United States. The study is based on original documents such as the files of Kanner's doctoral thesis on electrocardiography and cardiophonography found at the archives of Humboldt University of Berlin, and his unpublished autobiography, located at the library of the American Psychiatric Association in Washington, DC.