Using multimedia interfaces for speech therapy [PDF]
, 2010 George, J., Gnanayutham, Paul
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Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
The use of wearable technology to measure and support abilities, disabilities and functional skills in autistic youth: a scoping review [PDF]
Scandinavian Journal of Child and Adolescent Psychiatry and Psychology, 2020 Melissa H. Black +9 more
doaj +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
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The development of the audio-visual voice comparator for speech and hearing therapy [PDF]
, 1955 Thesis (Ed.M.)--Boston ...
Chamberlain, Edward J
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A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari +3 more
wiley +1 more source
Technology use in speech-language therapy with children [PDF]
, 2013 Speech-language therapy is common for many children, and technological advancements have had an impact on the therapy approach used by many speech-language pathologists. As the use of technology becomes more common among adults and children, many uses of
Cotton, Carla
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Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Acceptance with joy: Writing as a means of embodying compassion [PDF]
, 2014 This article reports on research using writing workshops conducted with three women who distanced themselves from problematic relationships with their bodies that were induced by eating disorders.
Kotzé, Elmarie, Scott, Bridget
core
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source