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Background: The Autism Diagnostic Interview-Revised (ADI-R) is considered a first choice assessment tool in autism spectrum disorder. Nevertheless, despite its wide use in psychiatric practice and recommendations by various clinical guidelines, its interrater reliability has predominantly been confirmed in research settings by specially trained, research reliability interviewers. The reliability of ADI-R assessments among clinicians has not yet been established. Therefore, this study examined the spontaneous interrater reliability of the ADI-R in a naturalistic clinical multicenter setting. Sampling and Methods: Ten video-recorded ADI-R administrations were rated by 5 different raters each from a pool of 11 raters affiliated to 8 different clinical sites. Results: The interrater reliability for the 12 diagnostic criteria operationalizing autism spectrum disorders according to DSM-IV/ICD-10 in the ADI-R algorithms ranged between G(q,k) (analogous to intraclass correlations) = 0.96 and 0.99 for reciprocal social interaction, 0.96 and 1.00 for communication, and 0.91 and 0.97 for repetitive and restricted behavior. Reliability of diagnostic classification was ĸCohen 0.83. Conclusions: The findings endorse the psychometric properties of ADI-R in terms of interrater reliability previously reported from research settings and support their generalization to common clinical settings. Limitations of this study include an unbalanced sample composition.

The Autism Diagnostic Observation Schedule (ADOS) is a first-choice diagnostic tool in autism spectrum disorder (ASD). Excellent interpersonal objectivity (interrater reliability) has been demonstrated for the ADOS under optimal conditions, i.e., within groups of highly trained "research reliable" examiners in research setting. We investigated the spontaneous interrater reliability among clinically trained ADOS users across multiple sites in clinical routine. Forty videotaped administrations of the ADOS modules 1-4 were rated by five different raters each from a pool of in total 15 raters affiliated to 13 different clinical sites. G(q,k) coefficients (analogous to intraclass correlations), kappas (ĸ) and percent agreement (PA) were calculated. The median interrater reliability for items across the four modules was G(q,k) = .74-.83, with the single ADOS items ranging from .23 to .94. G(q,k) for total scores was .85-.92. For diagnostic classification (ASD/non-spectrum), PA was 64-82 % and Fleiss' ĸ .19-.55. Objectivity was lower for pervasive developmental disorder not otherwise specified and non-spectrum diagnoses as compared to autism. Interrater reliabilities of the ADOS items and domain totals among clinical users across multiple sites were in the same range as previously reported for research reliable users, while the one for diagnostic classification was lower. Differences in sample characteristics, rater skills and statistics compared with previous studies are discussed. Findings endorse the objectivity of the ADOS in naturalistic clinical settings, but also pinpoint its limitations and the need and value of adequate and continuous rater training.

Background Fetal alcohol spectrum disorders (FASD) is an umbrella term covering several conditions for which alcohol consumption during pregnancy is taken to play a causal role. The benefit of individuals being identified with a condition within FASD remains controversial. The objective of the present study was to identify ethical aspects and consequences of diagnostics, interventions, and family support in relation to FASD. Methods Ethical aspects relating to diagnostics, interventions, and family support regarding FASD were compiled and discussed, drawing on a series of discussions with experts in the field, published literature, and medical ethicists. Results Several advantages and disadvantages in regards of obtaining a diagnosis or description of the condition were identified. For instance, it provides an explanation and potential preparedness for not yet encountered difficulties, which may play an essential role in acquiring much needed help and support from health care, school, and the social services. There are no interventions specifically evaluated for FASD conditions, but training programs and family support for conditions with symptoms overlapping with FASD, e.g. ADHD, autism, and intellectual disability, are likely to be relevant. Stigmatization, blame, and guilt are potential downsides. There might also be unfortunate prioritization if individuals with equal needs are treated differently depending on whether or not they meet the criteria for a specific condition. Conclusions The value for the concerned individuals of obtaining a FASD-related description of their condition – for instance, in terms of wellbeing – is not established. Nor is it established that allocating resources based on whether individuals fulfil FASD-related criteria is justified, compared to allocations directed to the most prominent specific needs.

Autism spectrum disorders (ASDs) are a heterogeneous group of disorders with a complex genetic etiology. We used high-resolution whole genome array-based comparative genomic hybridization (array-CGH) to screen 223 ASD patients for gene dose alterations associated with susceptibility for autism. Clinically significant copy number variations (CNVs) were identified in 18 individuals (8%), of which 9 cases (4%) had de novo aberrations. In addition, 20 individuals (9%) were shown to have CNVs of unclear clinical relevance. Among these, 13 cases carried rare but inherited CNVs that may increase the risk for developing ASDs, while parental samples were unavailable in the remaining seven cases. Classification of all patients into different phenotypic and inheritance pattern groups indicated the presence of different CNV patterns in different patient groups. Clinically relevant CNVs were more common in syndromic cases compared to non-syndromic cases. Rare inherited CNVs were present in a higher proportion of ASD cases having first- or second-degree relatives with an ASD-related neuropsychiatric phenotype in comparison with cases without reported heredity (P = 0.0096). We conclude that rare CNVs, encompassing potential candidate regions for ASDs, increase the susceptibility for the development of ASDs and related neuropsychiatric disorders giving us further insight into the complex genetics underlying ASDs. © 2010 Wiley-Liss, Inc.

Of a population of 100 Swedish thalidomide embryopathy cases, at least four met full criteria for DSM-III-R autistic disorder and ICD-10 childhood autism. Thalidomide embryopathy of the kind encountered in these cases affects fetal development early in pregnancy, probably on days 20 to 24 after conception. It is argued that the possible association of thalidomide embryopathy with autism may shed some light on the issue of which neural circuitries may be involved in autism pathogenesis.

Background: Autism spectrum disorder (ASD) is currently not curable, but it may be malleable to varying degrees in response to different interventions to improve outcomes. Objective: We conducted a systematic review of interventions aimed at ameliorating social communication impairments in patients with ASD. This study was registered in the International Prospective Register of Systematic Reviews (no. CRD42013003780). Methods: We focused on the ASD interventions that are frequently applied in Swedish clincial practice to address ASD. To ensure stakeholder involvement, we also conducted two surveys with three major Swedish ASD interest organizations to assess perceived research priorities for ASD treatment. With the use of this rationale for selection, Early Intensive Behavioral Intervention [EIBI], Treatment and Education of Autistic and Related Communication Handicapped Children [TEACCH], social skills training groups, and interventions that involved significant others were reviewed. A bibliographic search was conducted via five databases: Medline, PubMed, PsycInfo, CINAHL, and ERIC. Identified articles were screened for relevance by two independent reviewers, who also assessed the risk of bias in randomized controlled trials using systematic checklists. Results: A total of 7264 citations were identified as being published before February 2013, and 109 studies (18 of EIBI, 18 of social skills training, 4 of TEACCH, and 69 of interventions involving significant others) were included in the analysis. The included studies provided some support for the positive effects of each of the interventions; this is especially true if the most recently published research (March 2013 through August 2015) is considered, and a crude updated search for relevant randomized controlled trials was performed. The interventions that involve the significant others of individuals with ASD form a heterogenous area of treatment strategies that require subcategorization for future review. Conclusions: These findings provide preliminary support for treatments that are commonly used in clinical practice for the treatment of ASD in Sweden. However, larger and more rigorously designed and controlled studies are still needed before definitive conclusions regarding their effects can be made.

A group of 199 children and adolescents (153 boys, 46 girls) with autistic disorder was audiologically evaluated. Mild to moderate hearing loss was diagnosed in 7.9% and unilateral hearing loss in 1.6% of those who could be tested appropriately. Pronounced to profound bilateral hearing loss or deafness was diagnosed in 3.5% of all cases, representing a prevalence considerably above that in the general population and comparable to the prevalence found in populations with mental retardation. Hearing deficits in autism occurred at similar rates at all levels of intellectual functioning, so it does not appear that the covariation with intellectual impairment per se can account for all of the variance of hearing deficit in autism. Hyperacusis was common, affecting 18.0% of the autism group and 0% in an age-matched nonautism comparison group. In addition, the rate of serous otitis media (23.5%) and related conductive hearing loss (18.3 %) appeared to be increased in autistic disorder. The study emphasizes the need for auditory evaluation of individuals with autism in order to refer those with pronouced to profound hearing loss for aural habilitation and to follow those with mild to moderate hearing loss because of the risk of deterioration.

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.

The Childhood Autism Rating Scale (CARS) is an instrument for screening and diagnosis of autism. The present study was performed to assess the interrater reliability of a Swedish version of the CARS when used in a clinical setting. The procedure used mimicked a frequent form of consultation in neuropsychiatry and pediatric neurology. During a restricted time period, both an interview with the parents and observation of the child take place. Often this assessment is an important screening procedure and directs further investigation. CARS was used for rating autistic behavior by two investigators in 25 children. A variant of the weighted kappa statistic (correcting for chance and for degrees of disagreement) showed values between .53 and .75 (indicating fair to excellent agreement). Aspects of validity and reliability are discussed.

Objective: To study a controversy that has been discussed for more than two decades: whether or not children with autism have abnormalities affecting the cochlear nerve or the auditory pathway in the brain stem and, if so, to describe these abnormalities. Design: A group of 153 children and adolescents with autistic disorder were included in an investigation of auditory brain stem responses (ABR). Two thirds of this group, 101 individuals (75 boys, 26 girls), had normal hearing and they were selected for an in-depth ABR study. The results from the study group were compared with those of an age-matched comparison group. Results: The III-V interpeak latency (IPL) was significantly prolonged in both boys and girls with autism, compared with the controls. The latencies of ABR waves I and V were also significantly lengthened in the study groups. The individual test results showed that more than half of this normal-hearing autistic disorder group (58%) had abnormalities of one or more of eight ABR parameters studied. The most common abnormalities were prolongation of wave V (38%), and of I-V IPL (28%). A lengthening of the IN IPL was also recorded in 27% of 49 children who were difficult to test or who had hearing loss. Abnormal left-right differences of ABR latencies were found in 18% of autism cases with normal hearing. Conclusions: Possible causes of the reported ABR abnormalities, observed here as well as in other studies, are discussed. Brain stem lesion, occult cochlear dysfunction, and involvement of the cochlear efferent system are probable factors that can explain the ABR findings.

Gangliosides are sialic acid-containing glycolipids found in all cells, especially abundant in nerve cells and mainly situated on outer-membrane surfaces. The aim of this study was to provide data on the concentration of gangliosides in the CSF of children and adolescents with autism spectrum disorders (ASD) - 66 with autistic disorder, and 19 with other autism spectrum disorders. The comparison group consisted of 29 children and adolescents, whose CSF had been sampled to exclude acute infectious CNS disorder. The concentrations of the gangliosides GM1, GD1a, GD1b, and GT1b were determined using a microimmunoaffinity technique. The ASD group had a significantly higher concentration of ganglioside GM1 compared with the comparison group. The GM1 increase could not be explained as secondary to other clinical factors. Mean ganglioside levels did not differentiate subgroups with autistic disorder and those with a more atypical clinical picture, nor subgroups with known medical disorders and those with idiopathic autism. Altered patterns of gangliosides in the CNS might reflect important correlates of pathogenesis in autism.

The Autism Behavior Checklist (ABC) was used as a screening instrument in a study of autism spectrum disorders in a population of children with mental retardation or physical disability or both. The ABC score clearly reflected behavioural problems found in children with mental retardation and not only behaviours typical of autism. If the cut-off score used was 45 (lower than recommended by the original investigators), children with autistic disorder without multiple other disabilities were reliably identified, with an acceptable rate of false positive cases. In order not to miss other autism spectrum disorders, all cases with several omitted items in their checklists were examined in more detail. The Childhood Autism Rating Scale (CARS) distinguished reasonably well between autistic disorder and other autism spectrum disorders.

The prevalence of autism spectrum disorders was studied in all children with mental retardation and/or motor disability in a defined geographical region over a two-year follow-up period. In the general population, the prevalence of autistic disorder was 0.09% at the end of the follow-up period -a minimum estimate, as children with average intelligence were not screened. Autism spectrum disorders were found in 19.8% of children with mental retardation, including strictly defined autistic disorder (DSM-III-R criteria) in 8.9%; the two-year follow-up yielded a higher prevalence of 11.7% with autistic disorder. Among children with cerebral palsy, 10.5% had an autism spectrum disorder. Clear co-variation was found between mental retardation, epilepsy and autism spectrum disorders in this population of children with neurodevelopmental disorders.