Results 61 to 70 of about 1,256,209 (244)

Speech–Language Pathology Evaluation and Management of Hyperkinetic Disorders Affecting Speech and Swallowing Function

Tremor and Other Hyperkinetic Movements, 2017
Background: Hyperkinetic dysarthria is characterized by abnormal involuntary movements affecting respiratory, phonatory, and articulatory structures impacting speech and deglutition.
Julie M. Barkmeier-Kraemer, Heather M. Clark   +1 more
doaj   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Deep-brain-stimulation does not impair deglutition in Parkinson's disease.

, 2012
peer reviewedOBJECTIVE: A large proportion of patients with Parkinson's disease develop dysphagia during the course of the disease. Dysphagia in Parkinson's disease affects different phases of deglutition, has a strong impact on quality of life and may ...
Rommel, N., Gasser, T., Wächter, T., Kipping, Judy, Rommel, Natalie, Kipping, J., KRÜGER, Rejko, Breit, S., Breit, Sorin, Plewnia, Christian, Weiß, Daniel Timo, Plewnia, C., Krüger, R., Weiss, D., Lengerer, Sabrina, Weiss, Daniel, Gasser, Thomas, Wachter, Tobias, Lengerer, S.   +18 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Swallowing patterns after adenotonsillectomy in children

Pediatric Investigation, 2019
Importance Hypertrophy of the pharyngeal and palatine tonsils can interfere with breathing, physical and cognitive development, and quality of life, including sleep quality.
Anete Antunes deOliveira Branco, Camila deCastro Corrêa, Daniela deSouza Neves, Tais Huehara, Silke Anna Theresa Weber   +4 more
doaj   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Avaliação clínica e videofluoroscópica de pacientes com distúrbios da deglutição - estudo comparativo em dois grupos etários: adultos e idosos Clinical and radiological study of swallowing in patients with deglutition disorders, classified into two age groups: adults and older people

Arquivos de Gastroenterologia, 2006
RACIONAL: As anomalias do processo da deglutição têm etiologia multifatorial e complexa. A videofluoroscopia da deglutição tem sido apontada como o exame de maior utilidade na investigação diagnóstica desses casos.
Heloisa Sawada Suzuki, Ary Nasi, Sérgio Ajzen, Tereza Bilton, Elaine Palinkas Sanches   +4 more
doaj   +1 more source

Laringeal manifestations, voice and deglutition disorders in myasthenia gravis

, 2017
Introdução: A miastenia gravis (MG) é uma doença autoimune caracterizada por diminuição da força nos músculos voluntários, que se agrava com o esforço, podendo evoluir com alterações de voz e deglutição.
Castro, Andrea de Carvalho Anacleto Ferrari de
core   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source