Results 141 to 150 of about 65,000 (292)

Epidemiology of cerebral palsy in Brazil through the lens of the International Classification of Functioning, Disability and Health framework

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish an overall description of people with cerebral palsy (CP) in Brazil, including the epidemiology, clinical features, functioning, and access to rehabilitation and equipment, through the lens of the International Classification of Functioning, Disability and Health (ICF) framework, using preliminary data from the Brazilian ...
Hércules Ribeiro Leite, Luana Cristina da Silva, Elton Duarte Dantas Magalhães, Israt Jahan, Nadia Badawi, Gulam Khandaker, Maysa Ferreira Martins Ribeiro, Juliana de Alcântara Moreira Pereira, Luma Sthephanine Viana Roque da Silva, Maria de las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas   +10 more
wiley   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

A novel all‐in‐one dynamic wrinkle evaluation system: Development, validation and application in cosmetic industries

International Journal of Cosmetic Science, EarlyView.
Photo grading of dynamic lines in the dynamic line repeatability validation study. Abstract Objective This study aimed to develop and validate a novel, integrated dynamic wrinkle assessment system based on standardized, real‐time and multi‐angle facial images and video recordings, and to explore its potential application in evaluating the anti‐wrinkle ...
Xingzuo Liu, Juanjuan Chen, Chengda Ye, Andrew Steel, Yidong Tu, Frederic Flament, Jing Li   +6 more
wiley   +1 more source

SURGERY OF STRABISMUS IN THE ORTHOPTIC PLEOPTIC SECTION OF THE DEPARTMENT OF OPHTALMOLOGY

Zdravniški Vestnik, 2003
Background. Since 1996 there have been 446 patients (107 adults) operated for strabismus. This retrospective study (retrospection) indicated that out of those 107 adults 22 of them suffer from convergent concomitant strabismus, 29 from convergent ...
Marija Vukan-Rudolf
doaj  

Exploring a Single Music Therapy Session to Reduce 22q11.2 Deletion Syndrome Child and Adolescent's Outpatient Clinic‐Related Anxiety

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim This study explored whether a single music therapy session could reduce 22q11.2 deletion syndrome (DS) children and adolescents' clinic‐related anxiety when visiting the hospital outpatient clinic for health appointments. Methods The research employed a within‐subjects, single‐session, intervention design.
Mary C. Broughton, Emma Bunzli, Susan Pagel, Lisa Burgess, Erin Davis, Karen Elliott, Vinita Prasad, Helen S. Heussler   +7 more
wiley   +1 more source

MYCN Amplification in RB1‐Inactivated Retinoblastoma: Association With High‐Risk Features

Pediatric Blood &Cancer, Volume 73, Issue 6, June 2026.
ABSTRACT Background MYCN amplification occurs in a subset of retinoblastoma cases, both with and without RB1 inactivation. It has been suggested that retinoblastomas with MYCN amplification represent a distinct entity with more aggressive clinical behavior.
Kyriaki Papaioannou, Regina Kubica, Karen Fischhuber, Jasmin Beygo, Madlen Reschke, Petra Ritter‐Sovinz, Eva Biewald, Petra Ketteler, Dietmar Lohmann, Deniz Kanber   +9 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 993-1003, May 2026.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1098-1104, May 2026.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Uptrend in esotropia incidence in the era of excessive smartphone use: A nationwide population-based cohort study in Japan, 2014-2019. [PDF]

PLOS Digit Health
Wada S, Miyata M, Miyake M, Kido A, Kamei T, Ueshima H, Nakao S, Yamamoto A, Suda K, Nakano E, Tamura H, Tsujikawa A.   +11 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1021-1035, May 2026.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source