Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome |
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Authors: | Latha Soorya Jill Leon M. Pilar Trelles |
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Affiliation: | 1. Department of Psychiatry, Rush University Medical Center, Chicago, IL, USA;2. Intramural Research Program, National Institute of Mental Health, Bethesda, MD, USA;3. Department of Psychiatry, Icahn School of Medicine, New York, NY, USA |
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Abstract: | AbstractBackground: Specialized strategies are needed to understand the complex neuropsychological impairments reported in individuals with profound intellectual and multiple disabilities (PIMD) associated with rare genetic disorders. Methods: This narrative review focuses on assessment of individuals with Phelan-McDermid Syndrome (PMS) as a condition commonly associated with PIMD. Published case series and prospective studies were reviewed to evaluate approaches to cognitive, language, motor/sensory, and behavioral domains. This review is framed using general principles for neuropsychological evaluation in PIMD. Results: Neuropsychological assessment domains and tools varied across published reports. Adaptive behavior measures, out-of-range developmental assessments, and social-communication measures were commonly used. Available findings were used to shape a recommended framework with potential to improve measurement of clinical outcomes and advance scientific discovery. Conclusions: The recommended framework outlines an inter-disciplinary and multimodal neuropsychological assessment process relying on modified standardized assessments, functional assessments, and caregiver/informant reports when evaluating individuals with PIMD. Arrested development and skill variability/regression are also discussed as additional, important considerations in neuropsychological evaluation of individuals with PIMD and rare genetic disorders. |
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Keywords: | Intellectual disability Phelan-McDermid Syndrome neuropsychological assessment cognition |
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