Developmental Disorders and Substance Use Disorder: a phenotypical, endophenotypical and genetic exploration.

Contains fulltext : 88736.pdf (Publisher’s version ) (Open Access)RU Radboud Universiteit Nijmegen, 30 maart 2010Promotores : Gaag, R.J. van der, Brink, W. van den Co-promotores : Gorissen-van Eenige, M.E.E., Koeter, M.W.152 p

De verplichte proefpersonenverzekering bij medisch-wetenschappelijk onderzoek is lang niet altijd verplicht

Background: The law on medical research with humans enables researchers to request exemption from the 'mandatory' insurance for such test-subjects. Because this type of insurance is expensive, some research projects are abandoned at an early stage. AIM: To argue that exemption from 'mandatory' test-subject insurance is very rarely requested and granted. METHOD: We discuss the problems involved, using an example from clinical practice and the literature. RESULTS: The second evaluation report concerning the law on medical research mentions that very few requests are made with regards to exemptions from this type of test-subject insurance. In fact, not only researchers but also medical-ethical committees seem to be unclear about the rules and procedures for requesting and granting exemptions. As a result, there is always a real danger that medical-ethical committees make arbitrary decisions and withhold exemptions. conclusion: More use needs to be made of the opportunities that the law provides for requesting exemptions from test-subject insurance

[Autism spectrum disorders and substance use disorders]

Contains fulltext : 128610.pdf (publisher's version ) (Open Access)BACKGROUND: So far, little is known about the comorbidity of substance use disorders (sud) and autism spectrum disorders (asd). AIM: To increase our knowledge of sud in asd patients by means of a broad explorative study. METHOD: In a cross-sectional study 70 patients with asd were compared with 53 patients with adhd. Both groups included some patients with sud and without sud. Comparisons were drawn at three different levels: phenotype, endophenotype and genotype. RESULTS: At the phenotypical level, risk factors for sud were similar for asd and adhd (early onset smoking, adverse family history, parental addiction). The subgroup asd-with-sud reported better social orientation than the subgroup asd -without - sud, in spite of having impaired functioning at the phenotypical level and more cognitive problems at the endophenotypical level. At the genetic level, asd could be differentiated from adhd on the basis of three candidate genes, but this differentiation was irrespective of sud status. CONCLUSION: sud occur less frequently with asd than with adhd, but when they occur, they are just as severe. These results have implications for treatment

Multidisciplinaire richtlijn diagnostiek en behandeling van autismespectrumstoornissen bij volwassenen

Dit is een samenvatting van de Multidisciplinaire richtlijn diagnostiek en behandeling van autismespectrumstoornissen bij volwassenen. In de professionele hulpverlening heeft de aandacht voor autismespectrumstoornissen (ASS) het normale ontwikkelingspatroon van kind tot volwassene gevolgd. In toenemende mate wordt (h)erkend hoe autisme van invloed kan zijn op het psychosociale functioneren en welzijn van volwassenen en hun naasten. Uitgaande van een integrale visie op de zorg voor ASS heeft de Multidisciplinaire richtlijn diagnostiek en behandeling autisme­spectrumstoornissen bij volwassenen als doel om professionals in de gezondheidszorg meer richting en houvast te bieden bij de diagnostiek en de behandeling van ASS bij volwassenen. De richtlijn is geschreven door een werkgroep van psychiaters, psychologen, verpleegkundigen en belangenbehartigers, die werd bijgestaan door een brede multidisciplinaire klankbordgroep. Het reviewproces van de wetenschappelijke literatuur over ASS vond plaats in samenwerking met de Britse richtlijnwerkgroep en het kwaliteitsinstituut NICE en werd in Nederland ondersteund door het Trimbos-instituut. De richtlijn sluit aan bij de bestaande internationale richtlijnen en is geautoriseerd door de Nederlandse Vereniging voor Psychiatrie en het Nederlands Instituut van Psychologen

Temperament and character as endophenotype in adults with autism spectrum disorders or attention deficit/hyperactivity disorder

Contains fulltext : 154090.pdf (publisher's version ) (Closed access)Autism spectrum disorder and attention deficit/hyperactivity disorder overlap in several ways, raising questions about the nature of this comorbidity. Rommelse et al. published an innovative review of candidate endophenotypes for autism spectrum disorder and attention deficit/hyperactivity disorder in cognitive and brain domains. They found that all the endophenotypic impairments that were reviewed in attention deficit/hyperactivity disorder were also present in autism spectrum disorder, suggesting a continuity model with attention deficit/hyperactivity disorder as "a light form of autism spectrum disorder." Using existing data, 75 adults with autism spectrum disorder and 53 with attention deficit/hyperactivity disorder were directly compared on autistic symptoms with the autism spectrum quotient, and on the endophenotypic measure of temperament and character, using the Abbreviated (Dutch: Verkorte) Temperament and Character Inventory. Based on the hypothesis that attention deficit/hyperactivity disorder and autism spectrum disorder are disorders on a continuous spectrum, autism spectrum quotient scores and abbreviated Temperament and Character Inventory scores were expected to be different from normal controls in both disorders in a similar direction. In addition, the autism spectrum quotient and abbreviated Temperament and Character Inventory scores were expected to be closely correlated. These conditions applied to only two of the seven Abbreviated Temperament and Character Inventory scales (harm avoidance and self-directedness), suggesting that temperament and character as an endophenotype of autism spectrum disorder and attention deficit/hyperactivity disorder provides only partial support for the continuity hypothesis of autism spectrum disorder and attention deficit/hyperactivity disorder

Personality characteristics of adults with autism spectrum disorders or attention deficit hyperactivity disorder with and without substance use disorders.

We examined temperament and character profiles of 128 adults with autism spectrum disorder (ASD) or attention deficit and hyperactivity disorder (ADHD). Participants completed the abbreviated Temperament and Character Inventory. The ASD and ADHD groups showed distinct temperament profiles (ADHD: high novelty seeking, ASD: low reward dependence, high harm avoidance) and low character scores in both groups. We then stratified ASD and ADHD into current substance use disorder (SUD+), former (SUD;), or no history of Substance Use Disorder (SUD-). Novelty seeking and reward dependence were only significantly lower for ASD/SUD-, but normal for ASD/SUD; and ASD/SUD+ subgroups. Persistence scores were highest in both SUD; subgroups. We concluded that temperament profiles of ASD and ADHD patients differ significantly, and are similar to profiles reported in earlier studies, but appear to depend on the SUD status. Surprisingly, normal social orientation is found in ASD patients with former or current SUD. High persistence scores characterize patients who overcome SUD

Predictive validity of self-report questionnaires in the assessment of autism spectrum disorders in adults

While various screening instruments for autism spectrum disorders are widely used in diagnostic assessments, their psychometric properties have not been simultaneously evaluated in the outpatient setting where these instruments are used most. In this study, we tested the Ritvo Autism Asperger Diagnostic Scale–Revised and two short versions of the Autism-Spectrum Quotient, the AQ-28 and AQ-10, in 210 patients referred for autism spectrum disorder assessment and in 63 controls. Of the 210 patients, 139 received an autism spectrum disorder diagnosis and 71 received another psychiatric diagnosis. The positive predictive values indicate that these tests correctly identified autism spectrum disorder patients in almost 80% of the referred cases. However, the negative predictive values suggest that only half of the referred patients without autism spectrum disorder were correctly identified. The sensitivity and specificity of each of these instruments were much lower than the values reported in the literature. In this study, the sensitivity of the Ritvo Autism Asperger Diagnostic Scale–Revised was the highest (73%), and the Autism-Spectrum Quotient short forms had the highest specificity (70% and 72%). Based on the similar area under the curve values, there is no clear preference for any of the three instruments. None of these instruments have sufficient validity to reliably predict a diagnosis of autism spectrum disorder in outpatient settings

De voorspellende waarde van de Ritvo Autism Asperger Diagnostic Scale-R voor de diagnose bij volwassenen

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