Results 91 to 100 of about 1,777,874 (197)

Rates of mental health concerns among individuals assessed at the GoodHope Ehlers-Danlos Syndrome Clinic

Orphanet Journal of Rare Diseases
Past research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much ...
P. Maxwell Slepian, Kristina Axenova, Molly McCarthy, Rachel Siegal, Keisha Gobin, Aliza Weinrib, Stephanie Buryk-Iggers, Daniel Santa Mina, Laura McGillis, Nimish Mittal, Joel Katz, Hance Clarke   +11 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Physical Fitness Profiles Among Children and Adolescents With ADHD and ASD: A Comparison With Typically Developing Peers

Autism Research, Volume 19, Issue 6, June 2026.
ABSTRACT Children and adolescents with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) often present physical and motor challenges that may compromise health, yet direct comparisons between these neurodevelopmental conditions and typically developing (TD) peers remain limited.
Nerea Blanco‐Martínez, Rocío Carballo‐Afonso, Joel Estévez‐Agudo, Carlos Ayán‐Pérez, José Carlos Diz‐Gómez   +4 more
wiley   +1 more source

Autism spectrum disorders [PDF]

, 2011
The earlier that children with an Autism Spectrum Disorder (ASD) receive referral, diagnosis and intervention, the better the long-term results are for those children and their families (Barbaro & Dissanyake, 2009; Wiggins et al., 2006; Mandell et al.
Centre for Community Child Health
core  

Literacy and comprehension in school-aged children: Studies on autism and other developmental disabilities [PDF]

, 2008
The present thesis consists of five studies and addresses literacy and comprehension skills in children with autism spectrum disorders (ASD, including Asperger’s disorder) and, to a lesser extent, attention disorders (eg. Attention Deficits Hyperactivity
Åsberg, Jakob, Dahlgren, Sven-Olof,, Åsberg, Jakob,, Dahlgren Sandberg, Annika,   +3 more
core   +1 more source

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population [PDF]

, 2015
Cognitive impairment is common among individuals diagnosed with autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD). It has been suggested that some aspects of intelligence are preserved or even superior in people with ASD ...
Starr, J., D J Porteous, Hocking, L J, Porteous, D. J., Thomson, P A; id_orcid, Hocking, L. J., Davies, G., Medland, S E, S E Medland, Hocking, L.J., Wright, M.J., Porteous, D J, J Starr, Lupton, M. K., Hall, L.S., Montgomery, G W, Clarke, T.-K., Medland, S.E., Pattie, A., Martin, N.G., Liewald, D.C., Padmanabhan, S., Deary, I J, C Hayward, Smith, B.H., Hall, L S, Smith, B. H.; id_orcid, Fernandez-Pujals, A. M., Wright, M J, G W Montgomery, Hansell, N K, D C Liewald, Hall, L. S., N K Hansell, Wright, M. J., N G Martin, Hayward, C., S Cox, Liewald, D. C., Cox, S., Starr, J, Montgomery, G. W., I J Deary, Thomson, P. A., B H Smith, Deary, I. J., Fernandez-Pujals, A M, Lupton, M K, Hayward, C; id_orcid, M K Lupton, Davies, Gail, P A Thomson, Clarke, T-K, A M McIntosh, Hansell, N. K., Hansell, N.K., MacIntyre, D J; id_orcid, MacIntyre, D. J., L J Hocking, Smith, B. H., Cox, S, Fernandez-Pujals, A.M., Thomson, P.A., McIntosh, A M; id_orcid, M J Wright, Martin, N. G., Porteous, D.J., G Davies, Montgomery, G.W., Smith, B H, A M Fernandez-Pujals, McIntosh, A. M., A Pattie, D J MacIntyre, McIntosh, A.M., Clarke, T. K., S Padmanabhan, Medland, S. E., Pattie, A, Liewald, D C, L S Hall, Lupton, M.K., T-K Clarke, Padmanabhan, S, Martin, N G, MacIntyre, D.J., Deary, I.J.   +86 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

Atypical disengagement from faces and its modulation by the control of eye fixation in children with Autism Spectrum Disorder [PDF]

, 2010
By using the gap overlap task, we investigated disengagement from faces and objects in children (9–17 years old) with and without autism spectrum disorder (ASD) and its neurophysiological correlates.
Akechi, H., Hasegawa, T., Tojo, Y., Toshikazu Hasegawa, Yukiko Kikuchi, Yoshikuni Tojo, Kikuchi, Y., Atsushi Senju, Hironori Akechi, Hiroo Osanai, Senju, Atsushi, Osanai, H.   +11 more
core   +1 more source

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

Selector for the Spectrum Award 2018

, 2018
Billingham was invited to be part of the selection panel for the first Spectrum Award in 2018 alongside Mark Wallinger, Charming Baker, Professor Simon Baron-Cohen, Sacha Craddock and Mary Simpson.
Billingham, Richard, Spectrum
core   +1 more source