Results 61 to 70 of about 246,004 (355)

De novo point mutations in patients diagnosed with ataxic cerebral palsy [PDF]

, 2017
Cerebral palsy is commonly attributed to perinatal asphyxia. However, Schnekenberg et al. describe here four individuals with ataxic cerebral palsy likely due to de novo dominant mutations associated with increased paternal age.
D'Adamo, Maria Cristina, Davies, Wayne I. L., Fawcett, Katherine A., Gillard, Elodie, Hudspith, Karl, Hughes, Sarah, Jackson, Mandy, Jayawant, Sandeep, Jefferson, Rosalind, Lustenberger, Andrea, Miller, Jack W., Németh, Andrea H., O'Regan, Mary, Parolin Schnekenberg, Ricardo, Perkins, Emma M., Pessia, Mauro, Ragoussis, Jiannis, Sims, David, Skehel, Paul, Tucker, Stephen J., Williams, Jonathan   +20 more
core  

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

Cerebral Palsy [PDF]

American Journal of Public Health and the Nations Health, 1951
Denhoff E, Smirnoff Vn, Holden Rh
  +9 more sources

Prioritizing indigenous health equity in health registers: an environmental scan of strategies for equitable ascertainment and quality data

Global Health Research and Policy, 2022
Background Cerebral palsy (CP) registers serve as instrumental tools to support development of care pathways, preventative strategies, and health gains. Such health gains, however, are not always universal, with Indigenous health inequities common.
Karen Wright, Aria Dehar, N. Susan Stott, Anna Mackey, Alexandra Sorhage, Rachel Tapera, Sîan A. Williams   +6 more
doaj   +1 more source

Komunikasi nonverbal penyandang Cerebral Palsy di sekolah luar biasa Pertiwi Mojokerto [PDF]

, 2012
Dalam penelitian ini terdapat dua fokus persoalan yang dikaji, yaitu: Bagaimana komunikasi nonverbal penyandang cerebral palsy di SLB (sekolah luar biasa pertiwi) Mojokerto dan bagaimana simbol nonverbal yang dipakai penyadang cerebral palsy di SLB ...
Purnama, Yogi Elga
core  

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Hip dysplasia among children with spastic cerebral palsy in rural Bangladesh

BMC Musculoskeletal Disorders, 2019
Background Hip dysplasia is common among children with cerebral palsy (CP), particularly in spastic CP. It can result in pain, reduced function and quality of life.
Tasneem Karim, Mahmudul Hassan Al Imam, Prue Golland, Aynul Islam Khan, Iqbal Hossain, Hayley Smithers-Sheedy, Nadia Badawi, Mohammad Muhit, Gulam Khandaker   +8 more
doaj   +1 more source

Weekend and off-hour effects on the incidence of cerebral palsy: contribution of consolidated perinatal care

Environmental Health and Preventive Medicine, 2020
Objective This study estimated the effects of weekend and off-hour childbirth and the size of perinatal medical care center on the incidence of cerebral palsy. Methods The cases were all children with severe cerebral palsy born in Japan from 2009 to 2012
Satoshi Toyokawa, Junichi Hasegawa, Tsuyomu Ikenoue, Yuri Asano, Emi Jojima, Shoji Satoh, Tomoaki Ikeda, Kiyotake Ichizuka, Satoru Takeda, Nanako Tamiya, Akihito Nakai, Keiya Fujimori, Tsugio Maeda, Hideaki Masuzaki, Hideaki Suzuki, Shigeru Ueda   +15 more
doaj   +1 more source

INTERAKSI SOSIAL SANTRI CEREBRAL PALSY DALAM KULIAH SUBUH DI PONDOK PESANTREN DAARUT TAUHIID BANDUNG [PDF]

, 2016
Hakikatnya anak berkebutuhan khusus tidak akan lepas dari interaksi dan komunikasi dalam aktivitas kesehariannya. Begitu juga dengan anak cerebral palsy tidak terlepas dari interaksi sosial. Dalam hal ini mengulas gambaran bagaimana interaksi sosialnya,
Robiansyah, Tri Irvan
core  

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source