Results 121 to 130 of about 838,388 (305)

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, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

Cultural Adaptation of the “Language-Based Reading Disabilities Checklist” for Persian-Speaking Students: A Psychometric Study

Journal of Modern Rehabilitation
Introduction: Regarding the prevalence of learning disabilities (LD) and its consequences, the availability of a valid and reliable screening tool will help provide early diagnosis and intervention for at-risk students.
Mina Armin, Masoomeh Salmani, Mozhgan Asadi, Fatemeh Paknazar   +3 more
doaj   +1 more source

The role of language in psychiatric treatment in the French Romantic Age: A note on Dr Laurent Cerise [PDF]

, 2017
At the beginning of the 19th century France had many experts on the ‘moral treatment of insanity'. Very few of them, however, applied their experience and theories to the role of language in the development of behaviour from childhood on, in the ...
Starobinski, Jean
core  

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, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Fonoaudiologia em saúde pública

Revista de Saúde Pública
Objetivou-se obter o entendimento das funções do fonoaudiólogo enquanto profissional da saúde. Discutem-se as dificuldades ligadas à implantação de um serviço novo, estranho às Unidades Básicas de Saúde.
Regina M. Freire
doaj  

Examination of language, cognitive, and mathematical skills in childhood endocrine diseases

Frontiers in Psychology
IntroductionChildren diagnosed with endocrine disorders may exhibit atypical development and may encounter challenges in language, academic, and cognitive skills, as well as social–emotional issues.
Ebrar Çavuşoğlu, Merve Savaş, Emine Dilek, Yusuf Elgörmüş, Senanur Kahraman Beğen   +4 more
doaj   +1 more source

Language Development and Language Disorders

Language, 1979
Catherine Garvey, Lois Bloom, Margaret Lahey   +2 more
openaire   +2 more sources

Lived and Care Experiences of Chronic Musculoskeletal Shoulder Pain in Australian Adults: A Qualitative Study

Arthritis Care &Research, EarlyView.
Objective Australian evidence on lived and care experiences of chronic musculoskeletal shoulder pain (CMSP), irrespective of disorder classification or disease, is limited. However, such evidence is important for person‐centered care and informing local service pathways and care guidelines or standards.
Sonia Ranelli, Joanne E. Jordan, Ilana N. Ackerman, Alison Thorpe, Jennifer G. Persaud, Linda J. Woodhouse, Jason Chua, Ben Horgan, Andrew M. Briggs   +8 more
wiley   +1 more source