Results 21 to 30 of about 1,015 (189)

Apraxias: considerações sobre o corpo e suas manifestações motoras inesperadas.

Cadernos de Estudos Lingüísticos, 2015
O termo apraxia faz referência a uma perturbação do gesto, que envolve a dificuldade, ou até mesmo a impossibilidade, de realizar movimentos de maneira voluntária sem a presença de prejuízos musculares que justificassem o sintoma apresentado.
Melissa Catrini, Francisca Lier-DeVitto, Lúcia Maria Guimarães Arantes   +2 more
doaj   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

Analysis of error type and frequency in apraxia of speech among Portuguese speakers

Dementia & Neuropsychologia
Most studies characterizing errors in the speech of patients with apraxia involve English language. Objectives: To analyze the types and frequency of errors produced by patients with apraxia of speech whose mother tongue was Brazilian Portuguese ...
Maysa Luchesi Cera, Thaís Soares Cianciarullo Minett, Karin Zazo Ortiz   +2 more
doaj   +1 more source

Habilidades de praxia verbal e não-verbal em indivíduos gagos Verbal and non-verbal praxic abilities in stutterers

Revista CEFAC, 2009
OBJETIVO: caracterizar as habilidades de praxias verbal e não-verbal em indivíduos gagos. MÉTODOS: participaram do estudo 40 indivíduos, com idade igual ou superior a 18 anos, do sexo masculino e feminino: 20 gagos adultos e 20 sem queixas de comunicação.
Natália Casagrande Brabo, Ana Maria Schiefer   +1 more
doaj   +1 more source

Apraxia of Speech and Apraxia of Phonation

The Japan Journal of Logopedics and Phoniatrics, 2004
発声失行という用語は発語失行と比べると, 確立された概念とはいいがたく, その報告数も少ない.左MCA領域の脳梗塞により発声障害, 発語失行, 失語症を呈した症例を提示し発声失行について検討した.本例は咳払いや笑うときには有響成分が見られた一方で, ささやき声を呈した発声障害が8ヵ月以上持続し, 構音レベルの失行症状の改善と解離していた.鼻咽腔内視鏡検査にて, 発声時の声帯運動は一貫性に乏しく声帯が全く内転しないときや不自然な声門閉鎖が見られるときがあった.有声が見られるようになってからも一定しなかった.さらに発声時以外の意図的な咳払いや深呼吸時にも呼吸と声帯運動のタイミングのずれが観察された.声帯運動時の非一貫性や意図性と自動性の解離が明らかであり, 本例の発声障害は失行症状の一つとして捉えられ,
openaire   +2 more sources

Digital Cognitive Phenotyping for Differential Diagnosis and Monitoring in Neurological Conditions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To assess the utility, accessibility, and equivalence to supervised scales of online cognitive assessment in older individuals with cognitive impairment. Methods Patients with Alzheimer's disease (AD, n = 31), idiopathic normal pressure hydrocephalus (iNPH, n = 26), and traumatic brain injury (TBI, n = 23) completed online cognitive ...
Martina Del Giovane, Valentina Giunchiglia, Michael C. B. David, Magdalena A. Kolanko, William R. Trender, Peter J. Hellyer, Harmeena Kaur, David J. Sharp, Christopher Carswell, Paresh A. Malhotra, Adam Hampshire   +10 more
wiley   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse, Takashi Matsukawa, Yumiko Nakamura, Kazuo Kakinuma, Shoko Ota, Ryo Hara, Saki Nakashima, Kaoru Ito, Yutaro Nakamori, Toshiyuki Kakumoto, Masashi Hamada, Shigenori Kanno, Kyoko Suzuki, Tatsushi Toda   +13 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Phonological analysis of substitution errors of patients with apraxia of speech

Dementia & Neuropsychologia
The literature on apraxia of speech describes the types and characteristics of phonological errors in this disorder. In general, phonemes affected by errors are described, but the distinctive features involved have not yet been investigated.
Maysa Luchesi Cera, Karin Zazo Ortiz
doaj   +1 more source