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Aim: To review current studies on the effectiveness of neurofeedback as a method of treatment of the core symptoms of autism spectrum disorders (ASD)., Method: Studies were selected based on searches in PubMed, Ovid MEDLINE, EMBASE, ERIC, and CINAHL using combinations of the following keywords: 'Neurofeedback' OR 'EEG Biofeedback' OR 'Neurotherapy' OR 'Mu-Rhythm' OR 'SMR' AND 'Autism' OR 'Autism Spectrum Disorder' OR 'Pervasive Developmental Disorder'., Results: The existing evidence does not support the use of neurofeedback in the treatment of ASD. Studies with outcomes in favour of neurofeedback might be showing an improvement in comorbid attention-deficit-hyperactivity disorder symptoms rather than a true improvement in core ASD symptoms., Interpretation: Limitations of this review are those inherent in the studies available, including small sample size, short duration, variable diagnostic criteria, and insufficient control interventions, all causing a lack of generalizability., (© The Authors. Developmental Medicine & Child Neurology © 2011 Mac Keith Press.)

Individuals with autism spectrum disorder (ASD) demonstrate intact or superior local processing of visual-spatial tasks. We investigated the hypothesis that in a disembedding task, autistic individuals exhibit a more local processing style than controls, which is reflected by altered electromagnetic brain activity in response to embedded stimuli and enhanced activity of early visual areas. Ten autistic and ten matched control participants underwent 151-channel whole-head magnetoencephalography. Participants were presented with 400 embedded or isolated letters ('S' or 'H') and asked to indicate which of the two letters was shown. Performance was equal in both groups, but event-related magnetic fields differed between groups in an early (100-150 ms) and a later (350-400 ms) time window. In the early time window, autistic individuals differed from control participants in the embedded, but not in the isolated condition, reflecting reduced processing of the irrelevant context in autistic individuals. In the later time window, amplitude differences between the embedded and isolated conditions were measured in control participants only, suggesting that "disembedding" processes were not required in autistic individuals. Source localisation indicated that activity in individuals with ASD peaked in the primary visual cortex in both conditions and time windows indicating an effortless (automatic, bottom-up) local process, whereas activity in controls peaked outside the visual cortex., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Despite the skewed sex ratio, few studies have addressed possible cognitive sex differences in autism spectrum disorders (ASDs). This study compared visual attention to detail (ATTD) and selected executive functions (EF) in 35 males and 21 females with higher-functioning ASD and unaffected sibling controls. Females with ASD outperformed males on EF as assessed by the Trail Making Test B-A. Males with ASD showed superior performance for ATTD as measured by the Block Design Test (BD) when compared with females. EF difficulties in males were correlated with more stereotypic behaviours and interests on the Autism Diagnostic Interview-Revised or the Autism Diagnostic Observation Schedule. The results indicated clinically meaningful cognitive sex differences in ASD, particularly an association between EF and stereotypic behaviours and interests. ATTD as a potential basis for specific cognitive strengths (e.g. scientific/savant skills) might be more pronounced in males with ASD.

A multitude of interventions is offered for the treatment of autism spectrum disorders (ASD). However, only few have demonstrated scientific evidence, and even the evaluated methods need further examination of their mechanisms and scope. This article provides a brief summary of the premises and principles of successful psychobiosocial ASD intervention. ABA, TEACCH, PECS, social skills and cognitive training are described as examples for established approaches to ASD. Training of μ-suppression using neurofeedback and reanimation of the fusiform gyrus and amygdala using computer-aided facial affect recognition training are introduced as neurobiologically based ASD interventions.

Objectives: This study addresses the question whether personality dimensions differ between children with autism spectrum disorders (ASD) and attention deficit/hyperactivity disorder (ADHD), and whether these personality characteristics influence social problems in these groups of children., Methods: 68 children with ADHD (n = 32) and ASD (n = 36) were assessed with the Junior Temperament and Character Inventory (JTCI 7-11 R) and the Social Responsiveness Scale (SRS), as rated by the parents. Diagnosis of ASD was confirmed with standardized diagnostic instruments (ADOS und ADI-R)., Results: Both children with ASD and ADHD displayed significantly decreased scores in persistence, self-directedness and cooperativeness compared to normative values. Additionally, children with ASD showed extremely low reward dependence and differed significantly from children with ADHD in the temperament dimensions harm avoidance and reward dependence as well as in the character dimensions self-directedness and cooperativeness. In both groups, personality dimensions, especially reward dependence, were predictive of social responsiveness, as assessed by the SRS., Conclusion: The results suggest that specific personality characteristics are present already in young children with ASD and ADHD and may have an impact on their social competence.

Objective: To review neuropsychological models of theory of mind (ToM), executive functions (EF), and central coherence (CC) as framework for cognitive abnormalities in autism spectrum disorders (ASD)., Methods: Behavioral and functional imaging studies are described that assess social-cognitive, emotional, and executive functions as well as locally oriented perception in ASD., Results: Impairments in ToM and EF as well as alterations in CC are frequently replicated phenomena in ASD. Especially problems concerning social perception and ToM have high explanatory value for clinical symptomatology. Brain activation patterns differ between individuals with and without ASD for ToM, EF, und CC functions. An approach focussing on reduced cortical connectivity seems to be increasingly favored over explanations focussing on single affected brain sites., Conclusions: A better understanding of the complexities of ASD in future research demands the integration of clinical, neuropsychological, functional imaging, and molecular genetics evidence. Weaknesses in ToM and EF as well as strengths in detail-focussed perception should be used for individual intervention planning.

Research indicates that autism is the extreme end of a continuously distributed trait. The Social Responsiveness Scale (SRS) and the Social and Communication Disorders Checklist (SCDC) aim to assess autistic traits. The objective of this study was to compare their clinical validity. The SRS showed sensitivities of .74 to .80 and specificities of .69 to 1.00 for autism. Sensitivities were .85 to .90 and specificities .28 to.82 for the SCDC. Correlations with the ADI-R, ADOS and SCQ were higher for the SRS than for the SCDC. The SCDC seems superior to the SRS to screen for unspecific social and communicative deficits including autism. The SRS appears more suitable than the SCDC in clinical settings and for specific autism screening.

About 10% of autistic individuals exhibit some form of islets of abilities in the face of serious intellectual or mental disability ("savant syndrome"). The aim of this study was to investigate brain mechanisms in a sample of autistic subjects with outstanding memory. We investigated seven mnemonist savants with high-functioning autism spectrum disorder and seven matched controls with 151-channel whole-head magnetencephalography in a continuous old-new paradigm. They were presented with 300 pseudowords and 300 shapes and had to indicate by button press, whether the presented stimulus had been shown before. Unexpectedly, mnemonist savants did not perform better than controls, but were outperformed in the recognition of pseudowords. Accordingly, event-related magnetic fields elicited by pseudowords showed widespread old-new effects in controls, but not in savants. A source analysis of its early components revealed right occipital activation in savants, but left parietal activation in controls. This might be related to a visual processing style in mnemonist savants that proved to be inefficient in this task. During the possibly familiarity-based recognition of shapes, there were earlier and more widespread bilateral old-new effects in mnemonist savants, what might reflect their experience with figural material. In a neuropsychological test battery, mnemonist savants performed comparably to autistic people without special memory skills. However, a different factor structure of these tests pointed to a different organization of memory in mnemonist savants compared to controls that is characterized by its relative independence of general intelligence., (Copyright 2010 Elsevier B.V. All rights reserved.)

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

Objective: The cognitive phenotype of autism spectrum disorders (ASD) is characterized among other things by local processing (weak central coherence). It was examined whether a test that measures identification of fragmented pictures (FBT) is able to seize this preference for local processing., Method: The FBT performance of 15 patients with ASD, 16 with depression, 16 with schizophrenia and of 16 control subjects was compared. In addition, two tests well known to be sensitive to local processing were assessed, namely the Embedded Figures Test (EFT) and the Block Design Test (BDT)., Results: ASD patients demonstrated a preference for local processing. Difficulties in global processing, or more specifically in gestalt perception (FBT), were accompanied by good performance on the EFT and BDT as expected. Controlling for age and nonverbal intelligence (ANCOVA) reduced differences to trends. However, the calculation of difference scores (i.e., subtraction of FBT from EFT performance) resulted in significant differences between ASD and control groups even after controlling for of age and intelligence., Conclusions: The FBT is a suitable exploratory test of local visual processing in ASD. In particular, a difference criterion can be generated (FBT vs. EFT) that discriminates between ASD and clinical as well as healthy control groups.

Objectives: Increasing admission and prevalence rates of bipolar disorder (BD) are a matter of controversy in international child and adolescent psychiatry. We seek to contribute to this discussion by presenting data obtained in a population of German children and adolescents., Methods: Nationwide, whole population changes in inpatient admissions of BD and other psychiatric disorders between 2000 and 2007 were analyzed in individuals aged up to 19 years using registry data from the German Federal Health Monitoring System., Results: Inpatient admissions for BD in individuals aged up to 19 years increased from 1.13 to 1.91 per 100,000 or 68.5% between 2000 and 2007 (odds ratio: 1.69; 95% confidence interval: 1.41-2.02), with a nonsignificant decline in children less than 15 years and the largest relative increase in adolescents aged 15-19 years. Inpatient rates for depressive disorders increased by 219.6% and for hyperkinetic disorder by 111.3%. Conduct disorders increased by 18.1%, considerably less than the 38.1% general rise for all mental disorders in children and adolescents. The only significant decline in a diagnostic category occurred for psychotic disorders (-11.8%). BD inpatient admission represented only 0.22% of all mental disorder admissions in 2000 and 0.27% in 2007., Conclusions: An elevation of inpatient admissions of BD in Germany in adolescents was detected, exceeding the general trend for increased mental disorder admissions. The results may indicate a higher clinical awareness and appreciation of mood symptoms at earlier ages and, in part, a reconceptualization of previously diagnosed psychotic disorders in youth. However, a diagnosis of BD in youngsters is still extremely rare in Germany. Diagnoses were based on the judgment of the treating physician. A correction for multiple admissions in the data set is not possible.

Background: Calendar calculation is the ability to quickly name the day that a given date falls on. Previous research has suggested that savant calendar calculation is based on rote memory and the use of rule-based arithmetic skills. The objective of this study was to identify the cognitive processes that distinguish calendar calculation in savant individuals from healthy calendar calculators., Method: Savant calendar calculators with autism (ACC, n=3), healthy calendar calculators (HCC, n=3), non-savant subjects with autism (n=6) and healthy calendar calculator laymen (n=18) were included in the study. All participants calculated dates of the present (current month). In addition, ACC and HCC also calculated dates of the past and future 50 years., Results: ACC showed shorter reaction times and fewer errors than HCC and non-savant subjects with autism, and significantly fewer errors than healthy calendar calculator laymen when calculating dates of the present. Moreover, ACC performed faster and more accurate than HCC regarding past dates. However, no differences between ACC and HCC were detected for future date calculation., Conclusions: The findings may imply distinct calendar calculation strategies in ACC and HCC, with HCC relying on calendar regularities for all types of dates and an involvement of (rote) memory in ACC when processing dates of the past and the present.

The objective of this pilot study was to evaluate the effectiveness of a group-based intervention aiming at improving social and communication skills in individuals with autism spectrum disorder. Over a period of 11 months, N = 17 children and adolescents received treatment according to the manualised Frankfurt Social Skills Training (KONTAKT). Parent, teacher, expert and blind expert ratings were assessed to judge outcome regarding peer interaction, autistic behaviours, adaptive functioning and family burden. The participants exhibited improvements pre to follow-up treatment, particularly in the area of autistic symptomatology. Effect sizes (partial eta squared) ranged from 0.02 to 0.69. Among other things, regression models showed a positive influence of IQ and language skills on gains in social skills. Findings indicate that KONTAKT might be useful for enhancing social skills and reducing autism-related psychopathology over time in different contexts. Nevertheless, controlled trials are needed to reassure its effectiveness.

We examined upper facial basic emotion recognition in 57 subjects with autism spectrum disorders (ASD) (M = 13.5 years) and 33 typically developing controls (M = 14.3 years) by using a standardized computer-aided measure (The Frankfurt Test and Training of Facial Affect Recognition, FEFA). The ASD group scored lower than controls on the total scores of FEFA and perceived ambiguous stimuli more often as a negative emotion. The older ASD group (> or =12 years) performed better than the younger ASD group (<12 years) on the blended emotions of FEFA. The results support the findings that individuals with ASD have difficulties in emotion recognition. However, older subjects with ASD seem to have better skills than younger subjects with ASD.

We describe a patient with autism and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called Albright Hereditary Osteodystrophy-like syndrome or Brachydactyly-Mental Retardation syndrome, OMIM 600430). Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH), define the extent of the de novo deletion to a 3.5 Mb region on 2q37.3. Although a number of reports of patients with 2q37 deletion syndrome have been published, it remains unclear if gene expression and/or translation are altered by the deletion, thus contributing to the observed phenotypes. To address this question, we selected several candidate genes for the neuropsychiatric and skeletal anomalies found in this patient (autism and brachymetaphalangy). The deleted region in 2q37.3 includes the FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), glypican 1 (GPC1), vigilin (HDLBP), kinesin family member 1A (KIF1A) and proline-alanine-rich STE20-related kinase (PASK), all of which are involved in skeletal or neural differentiation processes. Expression analyses of these genes were performed using RNA from lymphoblastoid cell lines of the patient and his family members. Here we demonstrate that three of these genes, FARP2, HDLBP, and PASK, are considerably downregulated in the patient's cell line. We hypothesize that haploinsufficiency of these genes may have contributed to the patient's clinical phenotype.

Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare approximately 2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.

Owing to higher performance on the Raven's Progressive Matrices (RPM) than on the Wechsler Intelligence Scales (WIS), it has recently been argued that intelligence is underestimated in autism. This study examined RPM and WIS IQs in 48 individuals with autism, a mixed clinical (n = 28) and a neurotypical (n = 25) control group. Average RPM IQ was higher than WIS IQ only in the autism group, albeit to a much lesser degree than previously reported and only for individuals with WIS IQs <85. Consequently, and given the importance of reliable multidimensional IQ estimates in autism, the WIS are recommended as first choice IQ measure in high functioning individuals. Additional testing with the RPM might be required in the lower end of the spectrum.

The Social Responsiveness Scale (SRS) is a quantitative measure of autistic traits in 4- to 18-year-olds, which has been used in behavior-genetic, epidemiological and intervention studies. The US standardization demonstrated a single-factor structure and good to excellent psychometric properties. The cross-cultural validity of the German adaptation of the parent-report SRS in a sample of N=1,436 children and adolescents: 838 typically developing and 527 clinical participants (160 with autism spectrum disorders (ASDs)) was examined. Internal consistency (0.91-0.97), test-retest reliability (0.84-0.97), interrater reliability (0.76 and 0.95) and convergent validity with the Autism Diagnostic Observation Schedule as well as the Autism Diagnostic Interview-Revised and Social Communication Questionnaire (0.35-0.58) were satisfactory to good. The SRS total score discriminated between ASD and other mental disorders. SRS scores proved to be sufficiently independent of general psychopathology. Principal component analyses yielded single-factor solutions for the normative and clinical subsamples. In addition, construct validity was ensured by consistent correlations with the Vineland Adaptive Behavior Scales, the Child Behavior Checklist and the Junior Temperament and Character Inventory. Normative SRS total scores for girls and boys as well as values for ASD were lower in the German sample, while scores for conduct disorder and attention deficit hyperactivity/conduct disorder combined were higher. Generally, cross-cultural validity of the SRS seems to be sufficiently assured for a large European sample. However, some discrepancies regarding SRS normative and clinical raw score distributions, reliability and validity findings are critically discussed.

Background: Family studies of anorexia (AN) and bulimia (BN) nervosa in relatives of patients with eating disorders compared to control subjects are rare in German-speaking countries., Methods: A German multicenter study compared first-, second- and third-degree relatives of 65 adolescent AN subjects (n = 746), 21 adolescent BN subjects (n = 265) and relatives of 11 adolescent depressive control subjects (n = 157), as well as those of 37 adolescent healthy control subjects (n = 480). Assessments included the Diagnostic Interview for Genetic Studies (DIGS), the short form of the Family Interview of Genetic Studies (FIGS), and the Eating Disorder Family History Interview., Results: Rates of anorexia nervosa and major depressive disorder (trend) were significantly (p < .01) higher among the first- and second-degree relatives of anorexic and bulimic subjects than among the relatives of healthy controls. Most results were more prominent among relatives of bulimic index patients. Nevertheless, the frequencies were lower in this sample than in comparable US-American samples., Conclusions: The data confirm the hypothesis of familial vulnerability to anorexia and bulimia nervosa. The observed differences in comorbidity patterns among eating-disordered relatives may be due to an age effect of the index patients.

Autism has been associated with enhanced local processing on visual tasks. Originally, this was based on findings that individuals with autism exhibited peak performance on the block design test (BDT) from the Wechsler Intelligence Scales. In autism, the neurofunctional correlates of local bias on this test have not yet been established, although there is evidence of alterations in the early visual cortex. Functional MRI was used to analyze hemodynamic responses in the striate and extrastriate visual cortex during BDT performance and a color counting control task in subjects with autism compared to healthy controls. In autism, BDT processing was accompanied by low blood oxygenation level-dependent signal changes in the right ventral quadrant of V2. Findings indicate that, in autism, locally oriented processing of the BDT is associated with altered responses of angle and grating-selective neurons, that contribute to shape representation, figure-ground, and gestalt organization. The findings favor a low-level explanation of BDT performance in autism.

Background: In children with pediatric bipolar disorder (PBD), a consistent pattern of elevations in hyperactivity, depression/anxiety, and aggression has been identified on the child behavior checklist (CBCL-PBD profile). The aim of the present study was to estimate the prevalence of the CBCL-PBD profile in a child psychiatric sample, and to determine ICD-10 diagnoses in CBCL-PBD patients., Methods: We studied a sample of 939 consecutively referred children and adolescents, aged 4-18 years. ICD-10 discharge diagnoses were established in consensus conferences. The CBCL 4-18 was completed by parents as part of the diagnostic routine., Results: A total of 62 subjects (6.6%; 95% CI=5.2-8.4) met criteria for the CBCL-PBD phenotype. More than 75% of CBCL-PBD subjects were clinically diagnosed with disruptive behavior disorders (ADHD, ODD, and CD). Two patients (0.2% of the total sample) received a formal diagnosis of bipolar disorder, but did not show the CBCL-PBD phenotype., Conclusions: A considerable number of children in Germany are referred to psychiatric care with a mixed phenotype of aggression, anxiety, depression and attention problems. Our study demonstrated a comparable prevalence and similar clinical characteristics as reported from other countries using different diagnostic approaches. However, the CBCL-PBD phenotype does not correspond with clinical consensus diagnoses of bipolar disorder, but with severe disruptive behavior disorders.

Archival data from a survey of parent observations was used to determine the prevalence of social and behavioral problems in children with agenesis of the corpus callosum (ACC). Parent observations were surveyed using the Child Behavior Checklist (CBCL) for 61 children with ACC who were selected from the archive based on criteria of motor development suggesting a relatively high general level of functioning. Younger children with ACC (ages 2-5) were rated as primarily having problems with sleep. Older children with ACC (ages 6-11) manifested problems in attention, social function, thought, and somatic complaints. The older children with ACC were also compared to CBCL data from 52 children with autism who were selected from a previous study. Children with ACC were generally less impaired than children with autism on nearly all scales, with significantly less severe problems in the areas of attention, anxiety/depression, social function, and unusual thoughts. A further questionnaire related to diagnostic criteria for autism indicated that some children with ACC had traits that are among those that contribute to the diagnosis of autism within the domains of social interaction and social communication, but fewer who manifest repetitive and restricted behaviors.

Background: In children with pediatric bipolar disorder (PBD), a consistent pattern of elevations in inattention/hyperactivity, depression/anxiety, and aggression has been identified on the Child Behavior Checklist (CBCL-PBD profile). In Germany, no epidemiological study has included PBD to date., Objectives: To estimate the six-month prevalence of the CBCL-PBD profile in Germany in a large normative general population sample, and to examine subjects with CBCL-PBD profile with regard to symptoms assumed to coexist with PBD (e.g., suicidality, decreased need for sleep, and hypersexuality)., Methods: We studied a nationwide representative general population sample of 2,856 children and adolescents aged 4-18 years., Results: A total of 21 subjects [0.7% of the sample; 95% confidence interval (CI) = 0.5-1.1] met the criteria for the CBCL-PBD phenotype. CBCL-PBD subjects were more pervasively disturbed than clinical controls (n = 118; 4.1% of total sample; 95% CI = 3.4-4.9), demonstrated in significantly more social problems and delinquent behavior, and showed significantly higher rates of suicidality, decreased need for sleep and hypersexual behavior., Conclusions: The prevalence of CBCL-PBD subjects in the general German population compares to rates of PBD in US and Dutch epidemiological samples. Regardless of whether these subjects are affected by 'real' PBD or 'severe, pervasive ADHD' with pronounced emotional dysregulation, they constitute a group of seriously disturbed children and adolescents. The high rate of suicidality among CBCL-PBD subjects emphasizes the need for the identification and adequate treatment of children meeting this profile.

This study examined gestalt perception in high-functioning autism (HFA) and its relation to tasks indicative of local visual processing. Data on of gestalt perception, visual illusions (VI), hierarchical letters (HL), Block Design (BD) and the Embedded Figures Test (EFT) were collected in adult males with HFA, schizophrenia, depression and normative controls. Individuals with HFA processed gestalt stimuli less in accord with gestalt laws, particularly regarding the principle of similarity. Gestalt processing correlated positively with global processing of the HL. EFT and BD performance correlated negatively with VI susceptibility in HFA. All clinical groups succumbed less to VI than the normative sample. Results suggest decreased gestalt perception in HFA, being associated with a more general local visual processing bias.

The purpose of the present study was to examine possible differences between high-functioning males and females with autism spectrum disorder (ASD) regarding the core symptoms of autism and coexisting psychopathology. A total of 23 females and 23 males matched for age, IQ, and ASD diagnoses were recruited(mean age 11y 9mo [SD 4y 5mo], range 5y-20y 2mo) with an IQ above the range of learning disability (mean IQ 88.8 [SD 18.5], range 70-128). They were compared using the Autism Diagnostic Interview-Revised, the Autism Diagnostic Observation Schedule, and the Child Behavior Checklist/4-18. We did not identify striking differences between males and females for the triad of autism core dysfunctions (deficits in reciprocal social interaction, communication, and repetitive, stereotyped behaviours) as assessed by expert ratings. However, with regard to several domains of coexisting psychopathology, parent reports revealed significantly more symptoms in females than males, particularly social problems (t=4.47, p<0.01, d=1.20), attention problems (t=3.39, p<0.01, d=0.80), and thought problems (t=3.24, p<0.01, d=0.84). These results are discussed with possible interpreting bias by parents who may expect more socially desired behaviour from daughters than from sons. The severity of social and attention problems in high-functioning females with autism emphasizes the need for thorough assessments and interventions in these domains. Future research should compare the cognitive phenotype of autism between sexes.

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Due to concerns that selective serotonin reuptake inhibitors (SSRI) might be associated with an increased risk of suicidal ideation and suicide attempts in depressive children and adolescents, treatment with these drugs is controversial. All available data from randomised controlled trials on SSRIs treating depression in these age groups were examined regarding efficacy and suicidality. Results suggest that fluoxetine and, less clearly, sertraline are effective in such treatment. A meta-analysis yielded no statistically significant difference between treatment with SSRI and placebo with regard to the occurrence of suicidal behavior. Following evidence-based criteria, the risk:benefit ratio is favourable for fluoxetine and sertraline. Their use in the pharmacotherapy of depressive children and adolescents is indicated.

Background: The objective of this study was to investigate the tendency for local processing style ('weak central coherence') and executive dysfunction in parents of subjects with an autism spectrum disorder (ASD) compared with parents of individuals with early onset schizophrenia (EOS) and mental retardation (MR)., Method: Sixty-two parents of subjects with ASD, 36 parents of subjects with EOS and 30 parents of subjects with MR were examined. Data on two scales indicative of local visual processing (Embedded Figures Test, Block Design) and on three executive function tests (Wisconsin Card Sorting Test, Tower of Hanoi, Trailmaking Test) were collected for all participants., Results: Parents of subjects with ASD performed significantly faster on the Embedded Figures Test compared with both control samples. No other substantial group differences were observed., Conclusions: The findings indicate that an increased tendency for local processing in terms of visual disembedding could be a relatively specific core feature of the broader cognitive phenotype of autism in parents.

One of the most consistent findings in the neuroscience of autism is hypoactivation of the fusiform gyrus (FG) during face processing. In this study the authors examined whether successful facial affect recognition training is associated with an increased activation of the FG in autism. The effect of a computer-based program to teach facial affect identification was examined in 10 individuals with high-functioning autism. Blood oxygenation level-dependent (BOLD) functional magnetic resonance imaging (fMRI) changes in the FG and other regions of interest, as well as behavioral facial affect recognition measures, were assessed pre- and posttraining. No significant activation changes in the FG were observed. Trained participants showed behavioral improvements, which were accompanied by higher BOLD fMRI signals in the superior parietal lobule and maintained activation in the right medial occipital gyrus.

Objectives: Established scales for the early detection and general diagnostics of autism will be reviewed with a focus on the instruments available in German., Methods: All questionnaires, observation scales and interviews for the assessment of autism and associated conditions found in a search of Medline, PsychInfo, Psyndex and Google up to May 2004 are quoted. Instruments adapted and developed for the German-speaking countries are presented in more depth., Results: An increasing number of reliable national and international scales for the assessment of disorders of the autism spectrum are available. Currently a combination of the Social Communication Questionnaire (SCQ), the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) is regarded as the standard for a psychometrically based diagnosis of autism., Conclusions: For certain diagnostic groups and issues there continues to be a need for German-language instruments. Particularly scales for the assessment of the broader phenotype of autism, as well as instruments that are more sensitive to change would be desirable for outcome measurement and intervention evaluation.

Objective: To examine the psychometric properties of the German version of the Autism Diagnostic Observation Schedule (ADOS)., Methods: Interrater and retest reliability, internal consistency, convergent and diagnostic validity were determined in a total sample of 137 subjects with autism, 23 with atypical autism or pervasive developmental disorder not otherwise specified, 16 with Asperger-syndrome and 13 with other psychiatric disorders., Results: Interrater and retest reliability on the level of diagnosis (kappa w = 1.00 and .62) and raw-scores (ru = .84 and .79) were good. Likewise, the internal consistency of the algorithm scale communication and social interaction of modules 1 to 4 was fair (ru = .78 to .89). The categorical convergence for autism between the ADOS and the Autism Diagnostic Interview-Revised (ADI-R) reached 79% (kappa = .23), with their corresponding subscales correlating moderately (rtc = .31 to .45). The concordance of the ADOS judgment and the clinical consensus diagnosis was 77% (kappa w = .37), with a sensitivity of the ADOS of 90.4% and a specificity of 48.1% regarding the discrimination of autism and other autistic disorders., Conclusions: The ADOS is a reliable and sufficiently sensitive diagnostic tool in the assessment of autistic disorders. For ICD-10/DSM-IV classification and to ensure a high specificity of diagnosis additional information concerning repetitive, stereotyped behavior and early development (e.g. taken from the ADI-R) has to be collected.

Background: Autism and schizophrenia are considered to be substantially influenced by genetic factors. The endophenotype of both disorders probably also includes deficits in affect perception. The objective of this study was to examine the capacity to detect facially expressed emotion in autistic and schizophrenic subjects, their parents and siblings., Method: Thirty-five subjects with autism and 102 of their relatives, 21 schizophrenic subjects and 46 relatives from simplex (one child affected) and multiplex (more than one child affected) families, as well as an unaffected control sample consisting of 22 probands completed a 50-item computer-based test to assess the ability to recognize basic emotions., Results: The autistic subjects showed a poorer performance on the facial recognition test than did the schizophrenic and the unaffected individuals. In addition, there was a tendency for subjects from multiplex families with autistic loading to score lower on the test than individuals from simplex families with autistic loading. Schizophrenic subjects and their relatives as well as siblings and parents of autistic subjects did not differ from the sample of unaffected subjects in their ability to judge facial affect., Conclusions: Findings corroborate the assumption that emotion detection deficits are part of the endophenotype of autism. In families with autistic children, the extent of facial recognition deficits probably indexes an elevation in familial burden. It seems unlikely that problems in emotion perception form a consistent part of the endophenotype of schizophrenia or the broader phenotype in relatives of patients with psychosis or autism.

This study examined the association between adaptive behavior and general cognitive level in individuals with autism or PDD-NOS with and without comorbid mental retardation. Data from the screening version of the Vineland Adaptive Scales and the Wechsler Intelligence Scales were analysed in a sample of 67 subjects. While in the higher functioning individuals (IQ > 70, n = 34) IQ and adaptive behavior level differed significantly, performances were fairly comparable in subjects showing lower cognitive functioning (IQ < 70, n = 33). Regression models revealed a higher correlation between IQ and single adaptive behavior domains in the non-mentally retarded participants, with the domain Communication reaching the highest predictive power of the single adaptive behavior areas. Findings indicate, the relationship between adaptive and cognitive function in autistic disorders is mediated by the presence of a qualitative reduction of intelligence. Methodological limitations of the study are discussed.

Objective: We describe and critically discuss intervention methods that have been used to modify autistic behaviors., Methods: Early intervention methods, training of social skills, pharmacological treatment and alternative approaches are reviewed in the light of the empirical evidence., Results: Autism is a persistent and phenotypically heterogeneous disorder for which no cure has been found to date. However, individually composed care and therapies can lead to remarkable quantitative improvement., Conclusions: Further research is needed to evaluate the true impact of psychological and biological intervention techniques in autistic disorders. Among other things, the therapy studies carried out up to now often lack an adequate diagnostic assessment.

The purpose of this study was to examine whether performance on a standard cognitive test-battery can be used to clearly separate higher functioning autism from schizophrenia. Revised Wechsler Intelligence Scale for Children (WISC-R) or Adults (WAIS-R) profiles of 20 autistic and 20 schizophrenic adolescent young adult subjects matched for age, sex, and IQ level were contrasted. On average, autistic individuals had higher values on the subtest "Similarities," while schizophrenic participants scored better on "Comprehension." Discriminant analysis showed that a prognosis of the psychiatric classification can be made with 82.5% accuracy if all subscale data are considered. Even though this finding probably has limited merit for making judgements in clinical practice, it might be of exploratory value in the pursuit of differentiating autism and schizophrenia on a cognitive level., (Copyright 2002, Elsevier Science (USA). All rights reserved.)

Objective: To examine the relationship between autism spectrum disorders and low body weight., Method: The effect of maladaptive social and communicative behavior as well as stereotyped features on the normative body mass index (BMI) was analyzed in 103 subjects with autism or Asperger syndrome. Statistics were controlled for medication, neurological signs, overactivity, and general intelligence., Results: Twenty-eight percent of the male individuals had a BMI in the fifth percentile or below. Except for hyperactive behavior, none of the predictors showed a significant association with BMI. None of the subjects met diagnostic criteria for anorexia nervosa., Discussion: Although low body weight is often present in male subjects with autism or Asperger syndrome, results indicate that this link is inconsistent and partly mediated by hyperactivity. The co-occurrence of autism spectrum disorders and anorexia nervosa is probably due to chance., (Copyright 2002 by Wiley Periodicals, Inc.)

Autism is a chronic pervasive neurodevelopmental disorder characterized by the early onset of social and communicative impairments as well as restricted, ritualized, stereotypic behavior. The endophenotype of autism includes neuropsychological deficits, for instance a lack of "Theory of Mind" and problems recognizing facial affect. In this study, we report the development and evaluation of a computer-based program to teach and test the ability to identify basic facially expressed emotions. 10 adolescent or adult subjects with high-functioning autism or Asperger-syndrome were included in the investigation. A priori the facial affect recognition test had shown good psychometric properties in a normative sample (internal consistency: rtt=.91-.95; retest reliability: rtt=.89-.92). In a prepost design, one half of the sample was randomly assigned to receive computer treatment while the other half of the sample served as control group. The training was conducted for five weeks, consisting of two hours training a week. The trained individuals improved significantly on the affect recognition task, but not on any other measure. Results support the usefulness of the program to teach the detection of facial affect. However, the improvement found is limited to a circumscribed area of social-communicative function and generalization is not ensured.

Objectives: This study investigated whether empirically derived dimensions of autistic behavior are consistent with the content-valid construction of the autistic behavior domains according to ICD-10 and DSM-IV (social interaction, communication and repetitive, stereotyped behavior)., Methods: A principal component exploratory factor analysis routine with varimax-rotation and extraction of factors following the Scree criterion was run using data from the Autism Diagnostic Interview-Revised (ADI-R) of N = 262 individuals exhibiting autism or autistic features., Results: A three-factor solution consisting of two socio-communicative and one language dimension and accounting for 46.1% of the total variance was found to best describe the data. These factors yielded only vague correspondence with the idea of behavior domains described in ICD-10 and DSM-IV. In addition, factor loadings of items representing repetitive, stereotyped patterns were generally weak., Conclusions: The factor-analytic approach to autism indicates a conception of the disorder divergent from that defined in the contemporary psychiatric classification systems, especially regarding the area of repetitive, stereotyped behavior.

Interpersonal agreement and stability of the Autism Diagnostic Interview-Revised (ADI-R) was examined in this study. Four raters judging 55 subjects agreed moderately to excellently on the items of the diagnostic algorithm, operationalizing the main autistic symptoms according to the classification guidelines of ICD-10 and DSM-IV. When retesting 33 individuals, some items revealed only weak stability. On the level of domains of autistic behavior and diagnosis, the interrater reliability and retest reliability were consistently convincing., (Copyright 2001 S. Karger AG, Basel)

Since the introduction of a separate diagnosis for Asperger's syndrome in the ICD-10 and DSM-IV classification systems, a controversial debate has continued on whether Asperger's syndrome is a specific, clearly distinguishable disorder within the autistic spectrum or whether it represents a milder phenotypical variation of autism. The effect on the amount of autistic symptoms of the variables language delay and level of intelligence was analyzed within a sample of individuals exhibiting autism diagnosed by standardized methods. Both variables showed a significant effect on the degree of autistic symptoms in that impairments in social interaction were less noticeable. In addition, a subsample of individuals exhibited symptoms assumed to be characteristic for Asperger's syndrome. The findings support the assumption that autism and Asperger's syndrome represent "extreme points" on a scale of severity, which leads to the suggestion that the classification of different subtypes of autism could be abandoned in favor of a dimensional (multiaxial) approach.

92 inpatient and outpatient child and adolescent psychiatric institutions all over Germany were surveyed on practice and attitude towards psychological tests. Leading psychologists were contacted by mail and given a 15 item questionnaire. All institutions reported keeping at least a small test-inventory and using psychological tests in diagnostics. Half of the clinics carried out individual tests obligatory in the routine. Additionally, one third applied self-constructed instruments, which in the minority of cases had been psychometrically investigated or published. Computer-aided testing was established in one third of the institutions. Colleagues, test-compendia, scientific journals and the internet are quite often consulted for test-information. Intelligence measures are the most frequently administered test in child and adolescent psychiatry, while structured interviews are applied rarely. Among the highly frequent used individual tests were the Wechsler-Intelligence-Scales for children and adults, the CFT-scales, the projective Sceno-test and the d2-attention endurance test. One forth of the surveyed clinics reported refusal of individual or groups of tests, including projective and cognitive assessments. Thereby, ethic aspects were never mentioned as a reason for rejection. A range of diagnosticians reported to miss adequate measures for diverse constructs, e.g. learning disabilities. Furthermore, new norms and up-dates for regularly used instruments were often demanded. Some single survey-results also give reason for critically reviewing aspects of test-usage in German child and adolescent psychiatry.