Results 61 to 70 of about 39,747 (278)

IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders

HGG Advances, 2023
Summary: Diagnosing rare developmental disorders using genome-wide sequencing data commonly necessitates review of multiple plausible candidate variants, often using ontologies of categorical clinical terms.
Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple   +5 more
doaj   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi, Caroline Gochanour, Seung Ho Choi, Hyunkeun Cho, Chelsea Caspell‐Garcia, Christopher Coffey, Michael Brumm, David‐Erick Lafontant, Yuge Xiao, Thomas Tropea, John Seibyl, Caroline Tanner, Charles S. Venuto, Karl Kieburtz, Lana M. Chahine, Kathleen L. Poston, Andrew Siderowf, Kenneth Marek, Tanya Simuni, The Parkinson's Progression Markers Initiative   +19 more
wiley   +1 more source

Kansas Coordinating Council on Early Childhood Developmental Services Newsletter [PDF]

, 2016
Welcome! I Can Do It Myself! From a parent Resources to Support New Policy Statement on Preschool Inclusion ICC Project Focuses on Developmental Milestones Share Your Local ICC Story With Us What Do We Know About Kansas ICCs?
Kansas Coordinating Council on Early Childhood Developmental Services
core  

ActEarly: a bi-national evaluation study of a mobile application for tracking developmental milestones [PDF]

, 2019
Actively tracking young children's developmental milestones can help detect developmental delays. However, this is not an easy task, as there are few resources that provide reliable and comprehensive references for tracking and logging developmental ...
Armenta, Vicente
core   +1 more source

Developmental milestones in early childhood and genetic liability to neurodevelopmental disorders [PDF]

, 2020
Project page for analysis of developmental milestones and NDD PGS using MoBa ...
Laurie John Hannigan
core   +4 more sources

Similarities and differences in child development from birth to age 3 years by sex and across four countries: a cross-sectional, observational study

The Lancet Global Health, 2018
Summary: Background: Knowledge about typical development is of fundamental importance for understanding and promoting child health and development. We aimed to ascertain when healthy children in four culturally and linguistically different countries ...
Ilgi Ozturk Ertem, ProfMD, Vibha Krishnamurthy, MD, Mphelekedzeni C Mulaudzi, MD, Yanina Sguassero, MD, Hakan Balta, MD, Ozlem Gulumser, MD, Burcu Bilik, MSc, Roopa Srinivasan, MD, Benjamin Johnson, MSc, Geliang Gan, PhD, Lisa Calvocoressi, PhD, Veronika Shabanova, PhD, Brian W C Forsyth, ProfMBChB   +12 more
doaj   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency

JCRPE
Monocarboxylate transporter 8 (MCT8) deficiency is a rare genetic disorder characterized by peripheral thyrotoxicosis and severe cognitive and motor disability due to cerebral hypothyroidism.
Yağmur Ünsal, Gamze Hayran
doaj   +1 more source

Challenges of Child Functional Improvement in Family-Oriented Early Intervention: Parental and Professional Perspective [PDF]

Human Research in Rehabilitation
Early intervention involves a process of supporting children at risk or with confirmed developmental disorders, as well as their families. Specific goal of this case study is examining the impact of family-oriented early intervention on the level of ...
Ana Poposka
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source