Genetics of autistic disorders : review and clinical implications

Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy number variations in AD. An extensive literature search in the PubMed database was performed to obtain English published articles on genetic findings in autism. Results of linkage, (genome wide) association and cytogenetic studies are presented, and putative aetiopathological pathways are discussed. Implications of the different genetic findings for genetic counselling and genetic testing at present will be described. The article ends with a prospectus on future directions. Keywords: Autistic disorder , Linkage , Whole genome association , Copy number variation , Mutatio

Monitoring cortical excitability during repetitive transcranial magnetic stimulation in children with ADHD: a single-blind, sham-controlled TMS-EEG study

Background: Repetitive transcranial magnetic stimulation (rTMS) allows non-invasive stimulation of the human brain. However, no suitable marker has yet been established to monitor the immediate rTMS effects on cortical areas in children. Objective: TMS-evoked EEG potentials (TEPs) could present a well-suited marker for real-time monitoring. Monitoring is particularly important in children where only few data about rTMS effects and safety are currently available. Methods: In a single-blind sham-controlled study, twenty-five school-aged children with ADHD received subthreshold 1 Hz-rTMS to the primary motor cortex. The TMS-evoked N100 was measured by 64-channel-EEG pre, during and post rTMS, and compared to sham stimulation as an intraindividual control condition. Results: TMS-evoked N100 amplitude decreased during 1 Hz-rTMS and, at the group level, reached a stable plateau after approximately 500 pulses. N100 amplitude to supra-threshold single pulses post rTMS confirmed the amplitude reduction in comparison to the pre-rTMS level while sham stimulation had no influence. EEG source analysis indicated that the TMS-evoked N100 change reflected rTMS effects in the stimulated motor cortex. Amplitude changes in TMS-evoked N100 and MEPs (pre versus post 1 Hz-rTMS) correlated significantly, but this correlation was also found for pre versus post sham stimulation. Conclusion: The TMS-evoked N100 represents a promising candidate marker to monitor rTMS effects on cortical excitability in children with ADHD. TMS-evoked N100 can be employed to monitor real-time effects of TMS for subthreshold intensities. Though TMS-evoked N100 was a more sensitive parameter for rTMS-specific changes than MEPs in our sample, further studies are necessary to demonstrate whether clinical rTMS effects can be predicted from rTMS-induced changes in TMS-evoked N100 amplitude and to clarify the relationship between rTMS-induced changes in TMS-evoked N100 and MEP amplitudes. The TMS-evoked N100 amplitude reduction after 1 Hz-rTMS could either reflect a globally decreased cortical response to the TMS pulse or a specific decrease in inhibition

The group-based social skills training SOSTA-FRA in children and adolescents with high functioning autism spectrum disorder - study protocol of the randomised, multi-centre controlled SOSTA - net trial

Background: Group-based social skills training (SST) has repeatedly been recommended as treatment of choice in high-functioning autism spectrum disorder (HFASD). To date, no sufficiently powered randomised controlled trial has been performed to establish efficacy and safety of SST in children and adolescents with HFASD. In this randomised, multi-centre, controlled trial with 220 children and adolescents with HFASD it is hypothesized, that add-on group-based SST using the 12 weeks manualised SOSTA–FRA program will result in improved social responsiveness (measured by the parent rated social responsiveness scale, SRS) compared to treatment as usual (TAU). It is further expected, that parent and self reported anxiety and depressive symptoms will decline and pro-social behaviour will increase in the treatment group. A neurophysiological study in the Frankfurt HFASD subgroup will be performed pre- and post treatment to assess changes in neural function induced by SST versus TAU. Methods/design: The SOSTA – net trial is designed as a prospective, randomised, multi-centre, controlled trial with two parallel groups. The primary outcome is change in SRS score directly after the intervention and at 3 months follow-up. Several secondary outcome measures are also obtained. The target sample consists of 220 individuals with ASD, included at the six study centres. Discussion: This study is currently one of the largest trials on SST in children and adolescents with HFASD worldwide. Compared to recent randomised controlled studies, our study shows several advantages with regard to in- and exclusion criteria, study methods, and the therapeutic approach chosen, which can be easily implemented in non-university-based clinical settings. Trial registration: ISRCTN94863788 – SOSTA – net: Group-based social skills training in children and adolescents with high functioning autism spectrum disorder

Can Task-Switching Training Enhance Executive Control Functioning in Children with Attention Deficit/-Hyperactivity Disorder?

The key cognitive impairments of children with attention deficit/-hyperactivity disorder (ADHD) include executive control functions such as inhibitory control, task-switching, and working memory (WM). In this training study we examined whether task-switching training leads to improvements in these functions. Twenty children with combined type ADHD and stable methylphenidate medication performed a single-task and a task-switching training in a crossover training design. The children were randomly assigned to one of two groups. One group started with the single-task training and then performed the task-switching training and the other group vice versa. The effectiveness of the task-switching training was measured as performance improvements (relative to the single-task training) on a structurally similar but new switching task and on other executive control tasks measuring inhibitory control and verbal WM as well as on fluid intelligence (reasoning). The children in both groups showed improvements in task-switching, that is, a reduction of switching costs, but not in performing the single-tasks across four training sessions. Moreover, the task-switching training lead to selective enhancements in task-switching performance, that is, the reduction of task-switching costs was found to be larger after task-switching than after single-task training. Similar selective improvements were observed for inhibitory control and verbal WM, but not for reasoning. Results of this study suggest that task-switching training is an effective cognitive intervention that helps to enhance executive control functioning in children with ADHD

Pädagogische und erziehungswissenschaftliche Homogenisierungspraktiken im gesellschaftlichen Kontext

Der einführende Artikel in das Heftthema "Homogenisierung als pädagogisches Motiv" ordnet das Thema "Homogenisierung" in den erziehungswissenschaftlichen und bildungssoziologischen Diskurs der letzten Jahrzehnte der Bundesrepublik Deutschland ein, stellt Wirkungen auf pädagogische Praktiken fest und leitet so auf das Heftthema über. "Die Heftbeiträge [greifen] historische und aktuelle Praktiken auf das oft beschriebene, aber bislang kaum zum Gegenstand systematischer Untersuchungen gemachte Phänomen der Homogenisierung in pädagogischen Kontexten auf und diskutieren sie. Dabei wird mit Blick auf die Entwicklung und aktuelle Situation der Erziehungswissenschaft kritisch gefragt, ob nicht auch der erziehungswissenschaftliche Diskurs selbst durch homogenisierende Perspektiven gekennzeichnet ist. Die Autorinnen und Autoren sind verortet in Diskursen der Interkulturellen Bildung, der International Vergleichenden Erziehungswissenschaft und der Bildung für nachhaltige Entwicklung." (DIPF/Kr./Orig.

Forschen lehren und forschen lernen im Werkstattmodus. Konzepte, Erfahrungen und Befunde aus dem Wissenschaftsbetrieb

Forschungswerkstätten werden von den Autorinnen als Prozesse verstanden, an denen Forschungsvorhaben im Beratungs- bzw. Gruppenkontext konzipiert, erprobt, gelegentlich verworfen, begleitet und ausgewertet werden. Forschungswerkstätten sind „in“, lassen angesichts zunehmend verlangter Forschungspraxis in universitären Bildungsgängen allerdings auch die Frage aufkommen, wie gute Konzepte angesichts schlechter Betreuungsrelationen verwirklicht werden sollen. Im Aufsatz werden in einem ersten Schritt verschiedene Konzeptionen von Forschungswerkstätten hinsichtlich ihres Anspruchs, forschendes Studieren zu ermöglichen, vorgestellt. In einem weiteren Schritt werden anhand konkreter Praxisbeispiele aus den Forschungswerkstätten der Standorte Bremen und Paderborn die Chancen, aber auch Grenzen und Herausforderungen der Arbeit in Forschungswerkstätten aufgezeigt. (DIPF/Orig.

Was ist eigentlich ein Kontext? Theoretische Überlegungen und empirische Annäherungen an die Frage der Kontextualisierung von Schule in Lateinamerika

Besonders in diesem Beitrag wird die Notwendigkeit deutlich, sich bei Programmen zur Verbesserung der bildungsbezogenen Chancen an den komplexen Realitäten der Schüler zu orientieren. Die Autorinnen zeigen anhand einer qualitativen Befragung von Schülern in einem Stadtrandviertel der peruanischen Stadt Cusco eine differenzierte und auch widersprüchliche Kontextbeschreibung seitens der Schüler und Eltern, welche sie den viel reduzierteren Forderungen entsprechender NGOs gegenüber stellen. Sie plädieren für eine Kontextualisierung im Rahmen von politischen Initiativen und internationalen Studien, die nicht einseitig ist sowie Eltern und Lernende einbezieht. (DIPF/Orig.)International discussions on school development tend to ascribe different types of educational shortcomings to a lack of adaptation to specific contexts. It is, however, quite unclear what contextualization may imply. As a first step in the search for context definitions and contextual needs, this article offers different approaches: historical, theoretical and empirical perspectives are taken. With a special focus on Peru, document analysis shows the actual use of the word "contextual" in reformatory approaches of Peruvian NGOs. Moreover, results of a current empirical study are presented to show how adults in a Peruvian suburb define their own contextual necessities and thus fundamentally question existing concepts, particularly concerning their unilinearity. A final discussion of the possibilities of wider concepts and their reception in research and school development may help to refocus international approaches. (DIPF/Orig.

Phenotypic and measurement influences on heritability estimates in childhood ADHD

Twin studies described a strongly heritable component of attention-deficit/hyperactivity disorder (ADHD) in children and adolescents. However, findings varied considerably between studies. In addition, ADHD presents with a high rate of comorbid disorders and associated psychopathology. Therefore, this literature review reports findings from population-based twin studies regarding the influence of subtypes, assessment instruments, rater effects, sex differences, and comorbidity rates on ADHD heritability estimates. In addition, genetic effects on the persistence of ADHD are discussed. By reviewing relevant factors influencing heritability estimates more homogeneous subtypes relevant for molecular genetic studies can be elicited. A systematic search of population-based twin studies in ADHD was performed, using the databases PubMed and PsycInfo. Results of family studies were added in case insufficient or contradictory findings were obtained in twin studies. Heritability estimates were strongly influenced by rater effects and assessment instruments. Inattentive and hyperactive–impulsive symptoms were likely influenced by common as well as specific genetic risk factors. Besides persistent ADHD, ADHD accompanied by symptoms of conduct or antisocial personality disorder might be another strongly genetically determined subtype, however, family environmental risk factors have also been established for this pattern of comorbidity

Autistic Traits and Autism Spectrum Disorders: The Clinical Validity of Two Measures Presuming a Continuum of Social Communication Skills

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

Osteoporosis in Canadian adult cystic fibrosis patients: A descriptive study

BACKGROUND: Cystic fibrosis is the most common fatal autosomal recessive genetic disease in the Caucasian population. Osteoporosis is increasingly being recognised as an important complication in people with cystic fibrosis. METHODS: A descriptive study of adult cystic fibrosis patients receiving care at a Canadian tertiary care hospital was conducted to evaluate the prevalence of osteoporosis, the prevalence of non-vertebral fractures, and the change in bone mineral density during the course of a year. Data on bone mineral density were obtained for 40 adult cystic fibrosis patients by reviewing dual x-ray absorptiometry scans taken at baseline (when annual scans became standard clinical practice) and one year prior to baseline. Data on prevalent fractures were obtained by reviewing all available patient charts. Clinical and laboratory data were collected from an existing clinic database. RESULTS: Over half of the 40 patients had reduced T- and Z-scores at baseline. For the 27 patients who had data available one year prior to baseline, total hip and lumbar spine bone mineral density had decreased by 3.04% and 0.86% after one year while total body bone mineral density had not changed significantly. Four prior non-vertebral fractures were reported in three patients (1,146 patient-years). CONCLUSION: This study confirms that osteoporosis is a significant problem in adult cystic fibrosis patients, and constitutes the first published evidence of cystic fibrosis bone disease in Canadians