An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF Framework

Mahdi, Soheil; Albertowski, Katja; Almodayfer, Omar; Arsenopoulou, Vaia; Carucci, Sara; Dias, José Carlos; Khalil, Mohammed K.; Knüppel, Ane; Langmann, Anika; Lauritsen, Marlene Briciet; Cunha, Graccielle R.; Uchiyama, Tokio; Wolff, Nicole; Selb, Melissa; Granlund, Mats; Vries, Petrus J. de; Zwaigenbaum, Lonnie; Bölte, Sven

doi:10.1007/s10803-018-3482-4

Cited by 37 publications

(23 citation statements)

References 67 publications

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“…In some ways they relate to whether one conceptualizes ASD from a medical model perspective of a condition or disorder that needs “fixing” or a social model of disability whereby the challenges faced by individuals with ASD require societal and structural changes to better support and accommodate individuals with these characteristics to maximize adaption, functioning and well‐being [Kapp, Gillespie‐Lynch, Sherman, & Hutman, ]. The International Classification of Functioning, Disability and Health (ICF) Core Sets for ASD provides a framework for considering the latter [Mahdi et al, ; Bölte et al, ].…”

Section: Discussionmentioning

confidence: 99%

Considerations from the 2017 IMFAR Preconference on Measuring Meaningful Outcomes from School‐Age to Adulthood

et al. 2018

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The autism spectrum disorder (ASD) research community is increasingly considering the importance of measuring outcomes that are meaningful to individuals with ASD and their families. The 2017 IMFAR preconference aimed to gain the perspectives of how to define and measure “meaningful outcomes” from 280 participants, including people with ASD and their families, service providers, and researchers. Six themes were identified: (a) the definition of “outcome” varies by context and perspective; (b) the need to broaden the scope of what researchers measure; (c) the need for new assessment tools; (d) the need to expand data analytic methods; (e) where to focus (with emphasis on considering different developmental stages and aspects of diversity); and (f) a need for community partnerships to bridge research and daily practice. The challenge that the research community now faces is how to move the evidence base for clinical practice forward while keeping alive the divergence of views and considerations that are relevant for thinking about complex outcomes for the highly heterogeneous group of individuals with ASD. This commentary provides recommendations, with an emphasis on lifespan viewpoints that encompass individual strengths and preferences. Autism Research 2018, 11: 1446–1454. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Lay Summary The 2017 IMFAR preconference aimed to gain the perspectives of how to define and measure “meaningful outcomes” from a variety of stakeholders. This commentary outlines the six themes identified from keynote and panel presentations and audience‐participated discussions. Recommendations are made to emphasize perspectives that look across the lifespan and encompass individual strengths and preferences.

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Section: Discussionmentioning

confidence: 99%

Considerations from the 2017 IMFAR Preconference on Measuring Meaningful Outcomes from School‐Age to Adulthood

et al. 2018

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“…The past two decades of research has determined autism spectrum disorders (ASD) to be clinically (Fernandez and Scherer, 2017; Jones and Lord, 2013; Mahdi et al, 2018) and genetically (De Rubeis et al, 2014; Gilman et al, 2011; Pinto et al, 2014; Tammimies et al, 2015; C Yuen et al, 2017) heterogeneous. Phenotypically, the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) combines autistic disorder, Asperger disorder, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified into the single grouping of ASD (DSM-5, 2013).…”

Section: Introductionmentioning

confidence: 99%

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

Deneault

Faheem

White

et al. 2019

eLife

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Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants to ASD, ‘isogenic’ iPSC-derived neurons are critical. We developed a set of procedures to control for heterogeneity in reprogramming and differentiation, and generated 53 different iPSC-derived glutamatergic neuronal lines from 25 participants from 12 unrelated families with ASD. Heterozygous de novo and rare-inherited presumed-damaging variants were characterized in ASD risk genes/loci. Combinations of putative etiologic variants (GLI3/KIF21A or EHMT2/UBE2I) in separate families were modeled. We used a multi-electrode array, with patch-clamp recordings, to determine a reproducible synaptic phenotype in 25% of the individuals with ASD (other relevant data on the remaining lines was collected). Our most compelling new results revealed a consistent spontaneous network hyperactivity in neurons deficient for CNTN5 or EHMT2. The biobank of iPSC-derived neurons and accompanying genomic data are available to accelerate ASD research.Editorial note: This article has been through an editorial process in which authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (see decision letter).

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“…The World Health Organization (WHO) has two frameworks derived from the biopsychosocial model and related to comprehensive assessment of children's health and development: the International Classi cation of Functioning, Disability and Health for Children and Youth(ICF-CY) [15] and Nurturing Care [16]. The ICF-CY includes "health conditions," "body structures and functions," "activities and participation," "environmental (contextual)" and "personal" factors.The ICF-CY was a WHO approved "derived" classi cation but the two have now been merged and are referred to as ICF-CY to addressall aspects of functioning across the lifespan.Tools based on ICF-CY have involved children with disabilities [16], autism [17], cerebral palsy [18], and chronic illness [19]. The recently launched WHO Nurturing Care Framework [20] for young children includes "good health," "adequate nutrition," "responsive caregiving," "opportunities for early learning," and "security and safety."…”

Section: Introductionmentioning

confidence: 99%

WITHDRAWN: Applicability of a Tool for Comprehensive Assessments: the Expanded Guide for Monitoring Child Development

Pekcici¹

2020

Preprint

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Background: Pediatricians globally are in critical need of tools enabling comprehensive information about children and families while also saving face-to-face time. This study examined the applicability of the expanded version of the Guide for Monitoring Child Development (GMCD), a free-of-charge tool used in over 30 countries.The Expanded GMCD is a written tool incorporating the biopsychosocial model of healthcare delivery, bioecological theory of child development, and two World Health Organization frameworks: International Classification of Functioning, Disability and Health, and Nurturing Care. Methods: Parents of children attending Ankara University Developmental Pediatrics Division, Turkey, were given or digitally sent the Expanded GMCD to complete before their first assessment. The completeness of the responses to the four Expanded GMCD domains and factors associated with full completion were ascertained using multivariate analyses. Results: Of 480 children, 57% were boys, median age was 17.0 (IQR: 9.0-27.0) months. Completion rates were 78%, 87% and 92% for all four, at least three and at least two domains, respectively. All four domains “body structures and functioning,” “health conditions,” “activities and participation,” and “environmental factors” had completion rates >80%. The Expanded GMCD provided holistic information: 87% of children had developmental difficulties and special needs; 60% had chronic conditions requiring follow-up; over 20% of parents reported stigmatization and maternal depression; over 10% unemployment and financial difficulties, not getting enough support from friends and relatives, paternal depression; and 5% intra-family conflict. In the logistic regression analyses, parents of children ≤ 6 months more likely completed <4 domains compared to parents of older children (OR: 2.24; 95% CI: 1.25-3.72); maternal education less than high school (OR: 1.38; 95% CI: 0.87-2.20) and having multiple children (OR: 1.48; 95% CI: 0.94-2.35) were not significantly associated with the full completion of the Expanded GMCD.Conclusion:The applicability of the Expanded GMCD in this study in children with diverse health conditions and families with different educational levels implies its potential for applicability in other settings. Using the free-of-charge Expanded GMCD in healthcare delivery including telemedicine may address the gaps in the implementation of the theory, model and framework-based comprehensive tools for children and their families.

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An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF Framework

Cited by 37 publications

References 67 publications

Considerations from the 2017 IMFAR Preconference on Measuring Meaningful Outcomes from School‐Age to Adulthood

Considerations from the 2017 IMFAR Preconference on Measuring Meaningful Outcomes from School‐Age to Adulthood

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

WITHDRAWN: Applicability of a Tool for Comprehensive Assessments: the Expanded Guide for Monitoring Child Development

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