Results 131 to 140 of about 132,766 (257)

Neurodevelopmental disorders and the gut microbiome: insights into ADHD and tic disorders. [PDF]

Front Microbiol
Li J, Qiu X.
europepmc   +1 more source

Determining the Minimal Clinically Important Difference of the 40‐Item Smell Identification Test in People With Cystic Fibrosis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) and olfactory dysfunction (OD) are highly prevalent among people with cystic fibrosis (PwCF) and negatively impact quality of life. The 40‐item Smell Identification Test (SIT) is widely used to assess psychophysical olfaction, but a CF‐specific minimal clinically important difference (MCID) has not been ...
Eugene Oh, Jessa E. Miller, Michelle J. Lee, Anna Zemke, David Baraghoshi, Matthew J. Strand, Jeremiah A. Alt, Todd E. Bodner, Michael Chang, Naweed I. Chowdhury, Patricia H. Eshaghian, Anne E. Getz, Jennifer L. Goralski, David A. Gudis, Peter H. Hwang, Ashoke Khanwalkar, Adam J. Kimple, Jivianne T. Lee, Douglas A. Li, Jess C. Mace, Jayakar V. Nayak, Jonathan B. Overdevest, Zara Patel, Daniella K. Safatian, Rodney J. Schlosser, Brent Senior, Amanda L. Stapleton, Timothy L. Smith, Zachary M. Soler, Jeffrey D. Suh, Grant A. Turner, Marilene B. Wang, Milene T. Saavedra, Jennifer L. Taylor‐Cousar, Daniel M. Beswick   +34 more
wiley   +1 more source

Environmental Exposures and Neuroimaging in Children with Neurodevelopmental Disorders: A Scoping Review. [PDF]

Curr Environ Health Rep
Rechtman E, Rebello V, Invernizzi A, Sather A, Oluyemi K, Rodriguez MA, Horton M.   +6 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Neurodevelopmental Disorders and the Inverse Metabolic Profile: A Nationwide Propensity-Matched Analysis. [PDF]

Cureus
Luna Landa EM, Arroyo Cisneros M, Erazo G, Pedroza J, Nguefang G.   +4 more
europepmc   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Changing the Child: The Impact of Novel Treatments on the Identity of Children With Monogenic Neurodevelopmental Disorders. [PDF]

Bioethics
van Till SAL, Schermer MHN, Bruining H, Verhage M, Bunnik EM.   +4 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Development and Validation of a Short Version Eye‐Tracking Paradigm for the Screening and Diagnosis of Autism Spectrum Disorder in Qatar

Autism Research, EarlyView.
ABSTRACT Objective behavioral assessments for autism spectrum disorder (ASD) are often time‐intensive and require substantial clinical expertise. Eye‐tracking–based paradigms offer quantifiable measures of social attention that can complement traditional tools.
Fouad Al Shaban, Iman Ghazal, Fatema Al‐Faraj, Sarah Aqel, I. Richard Thompson   +4 more
wiley   +1 more source

The spectrum of neurodevelopmental disorders: comorbidities as clues to pathogenesis. [PDF]

Curr Opin Psychiatry
McHugh CM, John JR, Wu WT, Eapen V.
europepmc   +1 more source