Thomas Bergmann

Diagnosing autism in a clinical sample of adults with intellectual disabilities: How useful are the ADOS and the ADI-R?

Intellectual disability (ID) and autism spectrum disorder (ASD) are frequently co-occurring conditions. Carefully diagnosing ASD in individuals with ID would allow for more tailored clinical interventions that would improve mental health and quality of life. In this study, we evaluated the psychometric properties of the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) in a clinical sample of 79 adults with ID who were suspected of also having ASD. In the testable cases (68%), the ADOS was over-inclusive (specificity 45%) but highly sensitive (100%) of ASD. In the ADI-R, the feasibility was 37%, with a sensitivity of 88% and a specificity of 80%. Previously proposed adaptations of the ADOS algorithm were evaluated, and new items and tasks were suggested. The ADOS and the ADI-R were found to be valuable diagnostic tools for adults with ID. Adjustments of the setting and the tasks may further improve their feasibility and specificity.

Autismus bei erwachsenen Menschen mit geistiger Behinderung

According to the World Health Organization (WHO) the estimated prevalence of intellectual disabilities (ID) is about 1-3% and 1 out of 4 individuals with ID suffer from an additional autistic spectrum disorder (ASD) (arithmetic mean 24.6%, 19 studies, n=9,675) whereby the prevalence increases with the severity of ID (IQ 50-70: 9.9%, IQ<50: 31.7%). Therefore, it is of particular importance for physicians treating individuals with ID who have psychiatric disorders or behavioral problems to take ASD into account as a differential diagnosis so that appropriate treatment can be initiated.Irrespective of the IQ the diagnosis is based on an impairment of social interaction and communication and restricted repetitive interests presenting before the age of 3 (infantile or Kanner autism). ASD can be diagnosed as a separate disorder in adults with ID, however, the social and communicative abilities in respect of the cognitive and developmental level have to be considered.Due to reduced verbal capacity, high prevalence of physical and mental disorders, difficulties in taking the past medical history and presentation of atypical symptoms, the diagnostic assessment for autism in adults with ID is challenging.This article describes the typical symptoms, diagnostic approach, frequent comorbidities, differential diagnoses treatment options and their limitations for adults with ID suspected of having ASD.

p16 INK4a and p14 ARF mRNA expression in Pap smears is age-related

Expression of high-risk HPV oncogenes results in a strong overexpression of cellular protein p16INK4a. Immunohistochemical staining for p16INK4a is widely used as diagnostic marker. However, p16INK4a upregulation was also described as a biomarker of age. Here we analyzed p16INK4a expression in cervical smears to investigate if patient age may influence p16INK4a-based cervical cancer diagnosis. p14ARF was analyzed as a related supportive biomarker. Cervical scrapes were taken and stored in RNAlater. Total RNA was extracted, and cDNA was analyzed for expression of p16INK4a and p14ARF relative to β-actin, by real-time reverse transcriptase PCR SYBR-Green I assays. Patient-derived smears referred as HSIL (n=45) had 6.27-fold higher p16INK4a mRNA expression than smears of cytologically normal and HPV-negative persons (n=48). Expression of p14ARF was 4.87-fold higher. When women with normal diagnoses were stratified for age, a significantly enhanced p16INK4a (2.88-fold) and p14ARF (1.9-fold) expression was observed as a consequence of ageing. A significant age-dependent upregulation was also observed in older HSIL patients (2.54-fold). Our study revealed significantly enhanced expression of p16INK4a/p14ARF mRNA in cervical scrapes referred to as HSIL compared with normal women. An age-dependent bias has to be considered when quantifying these tumor suppressor genes, with respect to cervical cancer development.

Music-based Autism Diagnostics (MUSAD) – A newly developed diagnostic measure for adults with intellectual developmental disabilities suspected of autism

UNLABELLED The MUSAD was developed as a diagnostic observational instrument in an interactional music framework. It is based on the ICD-10/DSM-5 criteria for autism spectrum disorder (ASD) and was designed to assess adults on a lower level of functioning, including individuals with severe language impairments. This study aimed to evaluate the psychometric properties of the newly developed instrument. METHODS Calculations were based on a consecutive clinical sample of N=76 adults with intellectual and developmental disabilities (IDD) suspected of ASD. Objectivity, test-retest reliability, and construct validity were calculated and a confirmatory factor analysis was applied to verify a reduced and optimized test version. RESULTS The structural model showed a good fit, while internal consistency of the subscales was excellent (ω>.92). Item difficulties ranged between .04≤pi≤.82 and item-total correlation from .21 to .85. Objectivity was assessed by comparing the scorings of two external raters based on a subsample of n=12; interrater agreement was .71 (ICC 2, 1). Reliability was calculated for four test repetitions: the average ICC (3, 1) was .69. Convergent ASD measures correlated significantly with the MUSAD, while the discriminant Modified Overt Aggression Scale (MOAS) showed no significant overlap. CONCLUSION Confirmation of factorial structure and acceptable psychometric properties suggest that the MUSAD is a promising new instrument for diagnosing ASD in adults with IDD.

The use of melting curves as a novel approach for validation of real-time PCR instruments.

Validation of PCR thermal cycler performance is crucial in order to obtain reliable results. In this study, high resolution melting curve (HRM) analysis is presented as a novel validation method for real-time PCR instruments. By applying HRM analysis using a defined PCR amplicon and EvaGreen dye, information about the temperature accuracy and thermal homogeneity of the heating block was obtained. This pilot study shows the potential of our technique for temperature validation of real-time quantitative PCR thermal cyclers. Our data correlated well with the temperature accuracy data obtained from the Mobile Temperature Acquisition System (MTAS; r2 = 0.93), which conforms to the National Institute of Standards and Technology criteria, and our method was reproducible in independent runs (r2 = 0.95). The advantages of this HRM-based method include: (i) temperature measurement under real world conditions in the reaction liquid in closed reaction tubes; (ii) temperature measurement of all wells; and (iii) applicability to all real-time PCR instruments capable of HRM analysis.

Music in diagnostics: using musical interactional settings for diagnosing autism in adults with intellectual developmental disabilities

Various approaches to the diagnosis of autism spectrum disorders (ASDs) in children use the non-verbal communicative quality of music. However, ASD is frequent but under-diagnosed in adults with intellectual developmental disabilities (IDDs), so valid diagnostic instruments are urgently needed. Against this background, the Music-based Scale for Autism Diagnosis (MUSAD) was developed. A course of 13 musical interactional situations associated with instruments and activities was created to elicit autism diagnostic relevant behaviours. Eighty-eight items were derived assessing social affect, inflexible behaviours and sensory–motor issues. The MUSAD was applied from January 2010 to December 2011 in n = 91 adults with IDD suspected of having ASD; feasibility was assessed in n = 80 (April 2010 to December 2011). Reasons for non-feasibility of the MUSAD and the Autism Diagnostic Observation Schedule (ADOS) were compared in n = 40. Interrater agreement was analysed for one case by 12 independent raters; plausibility was assessed using questionnaires. Feasibility in applying the MUSAD was 95% (76/80). More individuals with severe language impairments were testable with the MUSAD as compared to the ADOS. Interrater agreement was .67 (ICC single measure), while items and scoring showed good plausibility. The MUSAD appears to be a promising measure for diagnosing ASD in adults with IDD, especially in individuals with limited verbal abilities.

Der Diagnostische Beobachtungsbogen für Autismus Spektrumstörungen (DiBAS)

BACKGROUND One in four individuals with intellectual disability (ID) are additionally diagnosed with autism spectrum disorders (ASD) that may not be recognized und thus remain untreated until adulthood. Diagnosing ASD in adults with ID is challenging and there is a lack of specific diagnostic measures. METHODS The Diagnostic Behavioral Assessment for ASD (DiBAS) is a DSM-5/ICD-10 based caregiver-report screener consisting of 20 Likert-scaled items. This study evaluates the item validities and -difficulties, and the scales feasibility and validity in a clinical, adult ID sample (N = 91) from 8/2009 to 12/2011. RESULTS The DiBAS was applicable in all individuals (100 %) and yielded an adequate diagnostic validity reflected by ROC analysis and an AUC of 0.808. Using a cut-point of 30, the sensitivity and specificity values were 83 % and 64 %, the agreement with the final diagnostic classification was 74 %, and Cohens kappa was 0.469. Single item analysis revealed 12 valid DiBAS variables that predominantly could be assigned to the social interaction and non-verbal communication domains; item difficulties varied from 0.21 to 0.84. The scales internal consistency was appropriate (Cronbachs alpha 0.749). CONCLUSIONS The DiBAS is a promising psychometrical sound scale of high feasibility to screen for ASD in adults with ID, which could be further specified by single item analysis.

Autismus bei erwachsenen Menschen mit geistiger Behinderung@@@Autism in adults with intellectual disabilities

According to the World Health Organization (WHO) the estimated prevalence of intellectual disabilities (ID) is about 1-3% and 1 out of 4 individuals with ID suffer from an additional autistic spectrum disorder (ASD) (arithmetic mean 24.6%, 19 studies, n=9,675) whereby the prevalence increases with the severity of ID (IQ 50-70: 9.9%, IQ<50: 31.7%). Therefore, it is of particular importance for physicians treating individuals with ID who have psychiatric disorders or behavioral problems to take ASD into account as a differential diagnosis so that appropriate treatment can be initiated.Irrespective of the IQ the diagnosis is based on an impairment of social interaction and communication and restricted repetitive interests presenting before the age of 3 (infantile or Kanner autism). ASD can be diagnosed as a separate disorder in adults with ID, however, the social and communicative abilities in respect of the cognitive and developmental level have to be considered.Due to reduced verbal capacity, high prevalence of physical and mental disorders, difficulties in taking the past medical history and presentation of atypical symptoms, the diagnostic assessment for autism in adults with ID is challenging.This article describes the typical symptoms, diagnostic approach, frequent comorbidities, differential diagnoses treatment options and their limitations for adults with ID suspected of having ASD.

Scale of emotional development—Short

BACKGROUND Intellectual disability (ID) is often accompanied by delays in emotional development (ED) that may result in challenging behavior. Insight into emotional functioning is crucial for appropriate diagnostic assessment in adults with ID. However, few standardized assessment instruments are available. AIMS The aim of this study was to develop a short, psychometrically sound instrument for assessing levels of ED in individuals with ID: The Scale of Emotional Development - Short (SED-S), which can be applied to adults. METHODS AND PROCEDURES The Scale for ED - Revised2 (SED-R2) was taken as a point of departure. In a first step, the validity and observability of the items (N=556) in the SED-R2 were assessed by 30 experts from Germany, Belgium, and The Netherlands. The SED-S was then constituted in a consecutive consensus process, in which items to be included were selected based on their assessments and subsequently rephrased, and in which the structure and method of administering the new scale were agreed upon. OUTCOMES AND RESULTS The SED-S consists of 200 binary items describing five levels of emotional functioning (reference ages: 0-12 years) within eight domains: Relating to His/Her Own Body, Relating to Significant Others, Dealing with Change - Object Permanence, Differentiating Emotions, Relating to Peers, Engaging with the Material World, Communicating with Others, and Regulating Affect. CONCLUSIONS AND IMPLICATIONS The SED-S offers an empirical-based, practical tool to assessing ED in adults with ID. Further research will be needed to meet the requirements of a standardized diagnostic instrument.

AutKom: a musical-bodily-based group training supporting adults with autism and intellectual disability

Background: Music plays an important role in education and therapy for children with autism spectrum disorder (ASD). Although ASD is a lifelong condition, music therapy is rarely reported in adults on the spectrum. There is a lack of structured concepts for supporting adults with ASD and intellectual disability (ID).Objective: We therefore developed a structured, mixed-gender group training combining an educational approach with musical-bodily interventions.Methods: A questionnaire with 57 items was developed to assess clients’ needs in the field of social, emotional, and practical skills. AutKom was conducted by a pedagogue and a music therapist. Setting and flow were structured with consideration of ASD-typical features. The feasibility of the program was measured by participation rate.Results: The assessment of needs resulted in a focus on social and practical skills. During two runs, emotion and stress regulation came to the fore. Music and movement-based interventions emerged as more appropriate and ...