Pubmed du 06/10/21
1. Bang P, Strömberg M, Meera SS, Igelström K. Brief Report: The Broad Autism Phenotype in Swedish Parents of Children With and Without Autism Spectrum Conditions. Journal of autism and developmental disorders. 2021.
The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the BAPQ into Swedish and examined its psychometric properties in a Swedish sample consisting of 45 parents of children with ASC and 74 parents of non-autistic children. We found support for the original 3-factor structure (aloof, pragmatic language and rigid), good internal consistency and convergent validity with the Autism Quotient. Thus, the Swedish BAPQ exhibits acceptable psychometric properties and may be useful for assessing the BAP in non-clinical populations.
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2. Esposito G, Marschik PB, Nordahl-Hansen A. Technological advancements in the assessment and intervention of developmental disabilities. Research in developmental disabilities. 2021; 119: 104088.
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3. Ferguson EF, Jimenez-Muñoz M, Feerst H, Vernon TW. Correction to: Predictors of Satisfaction with Autism Treatment Services During COVID‑19. Journal of autism and developmental disorders. 2021: 1.
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4. Jafari Khamirani H, Zoghi S, Saber Sichani A, Dianatpour M, Mohammadi S, Mohammad Bagher Tabei S, Alireza Dastgheib S. Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS. Journal of genetics. 2021; 100.
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS) is an extremely rare autosomal dominant genetic disease caused by disruptive pathogenic variants in CTBP1. There are merely 12 cases reported to have pathogenic variants in the CTBP1 gene. Here, we report the first case with HADDTS in the Middle-Eastern population. In the present study, wholeexome sequencing was deployed to identify the variant(s) causing this condition. Subsequently, Sanger sequencing was performed to confirm the variant. The clinical evaluation of the patient is written according to the thoroughly carried out examinations and clinical investigations. A novel single frameshift pathogenic variant in CTBP1 (NM_001328.3:c.1315_1316delCA, p.Gln439ValfsTer84) was identified as the cause for HADDTS in the proband. Our findings enhance the knowledge of poorly studied CTBP1. The newly reported patient is phenotypically different in comparison to the previously reported cases. He has no sign of hypotonia, difficulty in walking or standing.
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5. May T, Pilkington PD, Younan R, Williams K. Overlap of autism spectrum disorder and borderline personality disorder: A systematic review and meta-analysis. Autism research : official journal of the International Society for Autism Research. 2021; 14(12): 2688-710.
Autism spectrum disorder (ASD) and borderline personality Disorder (BPD) share features, including social and emotion regulation difficulties. The evidence for the overlap in prevalence and clinical characteristics was systematically reviewed. Ovid Medline, PsycInfo, and PubMed were searched until November 30, 2020 using keywords relating to BPD and ASD. Studies that reported on the overlap of ASD and BPD diagnoses or traits and used a case, cohort, or case-controlled design were included. Of 1633 screened studies, 19 were included, of which 12 reported data suitable for meta-analysis. Most samples were of small, clinically ascertained groups, with 11 having high risk of bias. The pooled prevalence of BPD in ASD was 4% [95% CI 0%-9%] and of ASD in BPD, 3% [95% CI 1%-8%]. There were inconsistent findings across clinical areas. The prevalence of a dual diagnosis of BPD in ASD cohorts and of ASD in BPD cohorts was within population prevalence estimates of each disorder. Based on this data we were not able to assess whether there is misdiagnosis of one in favor of the other. Neurocognitive differences may underlie similar behavioral symptoms, but further research using larger, well-validated samples is needed. LAY SUMMARY: Autism spectrum disorder (ASD) and borderline personality disorder (BPD) have overlaps in their symptoms. The overlap in how frequently they co-occur and their presentation was systematically reviewed. We searched the key databases and including all studies that reported on the overlap of ASD and BPD diagnoses or traits and used a case, cohort or case-controlled design. Of 1633 studies, 19 were included, of which 12 reported data suitable for pooling. Most samples were of small, clinical groups, with 11 having high risk of bias. The pooled prevalence of BPD in ASD was 4% [95% CI 0%-9%] and of ASD in BPD, 3% [95% CI 1%-8%]. There were inconsistent findings across studies comparing ASD and BPD related symptoms and problems. The prevalence of a dual diagnosis of BPD in ASD cohorts and of ASD in BPD cohorts was similar to the population prevalence of each disorder. Further research using larger, well-validated samples is needed.
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6. Vinson AH, Iannuzzi D, Bennett A, Butter EM, Curran AB, Hess A, Hyman SL, Kelly A, Murray DS, Nowinski L, Zwaigenbaum L, Sohl K. Facilitator Reflections on Shared Expertise and Adaptive Leadership in ECHO Autism: Center Engagement. The Journal of continuing education in the health professions. 2022; 42(1): e53-e9.
INTRODUCTION: Project Extension for Community Healthcare Outcomes (ECHO) is used to increase provider capacity in a wide range of health care specialties. ECHO Autism: Center Engagement is a program that promotes improvement in autism care by improving the management of autism care centers. The program’s focus brought experienced clinicians together as both facilitators and participants in an ECHO series. ECHO Autism: Center Engagement facilitators devised a reflective writing exercise to prospectively study their experience leading this new curriculum. METHODS: Drawing on a qualitative thematic analysis of longitudinal reflective writing exercises from seven « Hub Team » facilitators, we describe how ECHO leaders cultivate a learning environment that emphasizes shared learning and acknowledges the expertise of ECHO participants. RESULTS: The analysis generated three main themes: (1) Hub Team facilitators valued reciprocal exchange with Spoke sites, a theme we name « shared learning, » (2) Hub Team facilitators demonstrated high levels of awareness about their facilitation styles, and (3) Hub Team facilitators cultivated an interactional style they described as « all teach, all learn. » DISCUSSION: Examining the experiences of ECHO facilitators produces qualitative accounts of continuing professional development that may not be captured in other program evaluation approaches. In the case of ECHO Autism: Center Engagement, facilitators cultivated an environment of shared learning, which acknowledged the expertise of both facilitators and participants. These findings are pertinent for scholars of continuing education in health professions who lead educational programs where participants and facilitators have high levels of overlap in their areas of expertise and years of experience.
