Results 81 to 90 of about 105,746 (303)

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde, Jessica Klusek, Linda D. Ward, Diana Ivankovic, Nancy Powers, Vijay Shankar, Rachel A. Lyman, Trudy F. C. Mackay, William Bridges, Katy Phelan, Curtis Rogers, Luigi Boccuto, Sara M. Sarasua   +12 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Evaluating the theory of executive dysfunction in autism [PDF]

, 2004
In this paper studies of executive function in autism spectrum disorder are reviewed. Executive function is an umbrella term for functions such as planning, working memory, impulse control, inhibition, and shifting set, as well as for the initiation and ...
Hill, Elisabeth L.
core   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

The clinical characteristics of autistic women with restrictive eating disorders

BJPsych Open
Background Autistic women are at high risk of developing restrictive eating disorders (REDs), such as anorexia nervosa. Aims This study provides an overview of the clinical characteristics of autistic women with REDs to (i) enhance understanding of ...
Janina Brede, Charli Babb, Catherine R.G. Jones, Lucy Serpell, Laura Hull, James Adamson, Hannah Baker, John R.E. Fox, Will Mandy   +8 more
doaj   +1 more source

Gastrodin Rescues Autistic-Like Phenotypes in Valproic Acid-Induced Animal Model

Frontiers in Neurology, 2018
Autism spectrum disorder (ASD) is an immensely challenging developmental disorder characterized by impaired social interaction, restricted/repetitive behavior, and anxiety.
Xiaona Wang, Jing Tao, Yidan Qiao, Shuying Luo, Zhenqin Zhao, Yinbo Gao, Jisheng Guo, Jinghui Kong, Chongfen Chen, Lili Ge, Bo Zhang, Pengbo Guo, Lei Liu, Yinsen Song   +13 more
doaj   +1 more source

Self referential and social cognition in adolscents with autistic spectrum disorder [PDF]

, 2012
A dominant social cognition model has construed the central socio-communicative impairments in Autistic Spectrum Disorders (ASDs) as deficits in understanding others’ minds- what other people know, intend, believe and feel.
Woods, Damian Joseph Lloyd
core  

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Penerapan Latihan Sensorimotor Untuk Meningkatkan Kemampuan Menulis Pada Anak Autistic Spectrum Disorder

Jurnal Pendidikan dan Kebudayaan, 2011
The goal of this research is to prove that the application of sensorimotor training can improve writing skills and the writing in Autistic Spectrum Disorder (ASD) children, the research question posed is: Does the application of sensory motor training ...
Musjafak Assjari, Eva Siti Sopariah
doaj   +1 more source

Association between heavy metals exposure (cadmium, lead, arsenic, mercury) and child autistic disorder: a systematic review and meta-analysis. [PDF]

Front Pediatr, 2023
Ding M, Shi S, Qie S, Li J, Xi X.
europepmc   +1 more source