Results 91 to 100 of about 2,306,494 (185)

Syndrome and the Hypermobility Spectrum Disorders

, 2022
Objective To investigate differences in electromyography (EMG), muscle activity, and scapular kinematics during elevation in the scapular plane between healthy controls, participants with multidirectional shoulder laxity (MDL), and patients with ...
Valentien Spanhove, Fransiska Malfait, Malfait, Fransiska, Cools, Ann, Patrick Calders, Ann Cools, Berckmans, Kelly, Calders, Patrick, Palmans, Tanneke, De Wandele, Inge, Inge De Wandele, Spanhove, Valentien, Kelly Berckmans, Tanneke Palmans   +13 more
core   +1 more source

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

BMC Medical Genetics, 2017
Background Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly ...
Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa   +7 more
doaj   +1 more source

Age-related symptom clustering in pediatric hypermobility spectrum disorders: a scoping review. [PDF]

Orphanet J Rare Dis
Abstract Background Pediatric generalized hypermobility spectrum disorders (pgHSD), are a group of multisystemic heritable connective tissue disorders frequently under-recognized in pediatric populations.
Pochcial P, Solomon SC, Bruno KA, Fairweather D, Kinane A, Letzkus L, Gurka KK, Stephens I, Knight DRT.   +8 more
europepmc   +3 more sources

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants [version 1; referees: 2 approved]

Wellcome Open Research, 2018
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman   +50 more
doaj   +1 more source

Thorax deformity, joint hypermobility, and anxiety disorders

, 2021
Objective: To evaluate the association between thorax deformities, panic disorder, and joint ...
Gulsun, Murat, Ozdemir, Barbaros, Pinar, Murat, Yilmaz, Mehmet B., Erbas, Mevlut, Dumu, Kemal, Tonbul, Murat, Celik, Cemil   +7 more
core  

Eye movement sequences during simple versus complex information processing of scenes in autism spectrum disorder [PDF]

, 2011
Minshew and Goldstein (1998) postulated that autism spectrum disorder (ASD) is a disorder of complex information processing. The current study was designed to investigate this hypothesis.
Monica Castelhano, Benson, Valerie, Sheena K. Au-Yeung, Valerie Benson, Keith Rayner, Au-Yeung, Sheena K., Castelhano, Monica, Rayner, Keith   +7 more
core   +1 more source

Unraveling the genetic collagen connection: clinical and therapeutic insights on genetic connective tissue disorders

Advances in Rheumatology
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and ...
Nilton Salles Rosa Neto, Ivânio Alves Pereira, Flávio Roberto Sztajnbok, Valderílio Feijó Azevedo   +3 more
doaj   +1 more source

Phenotype-based prediction of functional improvements following structured exercise intervention in children with hypermobility spectrum disorder

Revista Pesquisa em Fisioterapia
BACKGROUND: Exercise therapy is widely prescribed for children with hypermobility spectrum disorder (HSD), yet intervention studies consistently report substantial inter-individual variability in functional outcomes.
Kshama Susheel Shetty, Hariharasudhan Ravichandran, Kumaragurubaran Ravikumar, Madhusudhan Shivanna, Sutamali Subramanian, Balamurugan Janakiraman   +5 more
doaj   +1 more source

Does it take the joints to stretch a mind? The ADHD and General Joint Hypermobility connection [PDF]

Attention-deficit/hyperactivity disorder (ADHD) is a childhood-onset neurodevelopmental disorder characterized by symptoms of inattention, hyperactivity-impulsivity, or both, which negatively affect the quality of life for children and adults worldwide ...
Kulbacka, Julia, Arczewski, Filip, Pasek, Piotr, Ryniecka, Julia, Czyż, Witold, Dziedzic, Karol, Zys, Damian, Wojszczyk, Maciej, Kacperczyk, Julia, Wójcikiewicz, Michalina   +9 more
core  

Thorax deformity, joint hypermobility, and anxiety disorders

, 2007
Objective: To evaluate the association between thorax deformities, panic disorder, and joint ...
Gulsun, Murat, Ozdemir, Barbaros, Yilmaz, Mehmet B., Pinar, Murat, Erbas, Mevlut, Dumu, Kemal, Tonbul, Murat, Celik, Cemil   +7 more
core   +2 more sources