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-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.
J Med Genet
January 2025
Department of Pediatrics, NHO Beppu Medical Center, Beppu, Oita, Japan
Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.
Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.
Longitudinal qualitative assessment of meaningful symptoms and relevance of WATCH-PD digital measures for people with early Parkinson's.
J Neurol
January 2025
Center for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Background: Longitudinal qualitative data on what matters to people with Parkinson's disease are lacking and needed to guide patient-centered clinical care and development of outcome measures.
Objective: To evaluate change over time in symptoms, impacts, and relevance of digital measures to monitor disease progression in early Parkinson's.
Methods: In-depth, online symptom mapping interviews were conducted with 33 people with early Parkinson's at baseline and 1 year later to evaluate (A) symptoms, (B) impacts, and (C) relevance of digital measures to monitor personally relevant symptoms.
Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia.
Neurol Ther
January 2025
Biohaven Pharmaceuticals, Inc., 215 Church Street, New Haven, CT, 06510, USA.
Introduction: The Friedreich Ataxia Rating Scale-Activities of Daily Living (FARS-ADL) is a validated and highly utilized measure for evaluating patients with Friedreich Ataxia. While construct validity of FARS-ADL has been shown for spinocerebellar ataxia (SCA), content validity has not been established.
Methods: Individuals with SCA1 or SCA3 (n = 7) and healthcare professionals (HCPs) with SCA expertise (n = 8) participated in qualitative interviews evaluating the relevance, clarity, and clinical meaningfulness of FARS-ADL for assessment of individuals with SCA.
Longitudinal Outcomes in Noonan Syndrome.
Genet Med
January 2025
Division of Human Genetics, Children's Hospital of Philadelphia; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Purpose: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted prior to widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
View Article and Find Full Text PDFTwo Decades of the Walking While Talking Test: A Narrative Review.
J Am Med Dir Assoc
January 2025
Department of Neurology, Renaissance School of Medicine, Stony Brook, NY, United States.
Objectives: Early research reported that older adults who stopped walking when they began a conversation were more likely to fall in the future. As a systematic measure of dual-task performance, Verghese and colleagues developed the Walking While Talking (WWT) test, in which a person walks at a normal pace while reciting alternate letters of the alphabet. The present paper highlights key findings from the 2 decades of research using the WWT test.
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