Results 151 to 160 of about 20,720 (264)

General movements and neurodevelopmental outcomes at 2 years of age in infants born very preterm

Developmental Medicine &Child Neurology, EarlyView.
This study examines the predictive role of early motor quality in very preterm born infants using the Motor Optimality Score ‐ Revised (MOS‐R). The graphical abstract depicts the link between newborn general movements and cognitive as well as motor outcomes at two years.
Ninib Yakoub, Marieken Asprion, Stephanie Brezina, Tilman Reinelt, Giancarlo Natalucci   +4 more
wiley   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

ESC Heart Failure
Violette Goetz, Bruno Lefort, Magalie Barth, Naïg Gueguen, Céline Bris, Emmanuelle Blanchard, Isabelle Benz‐de Bretagne, Hélène Blasco, Marine Tardieu, François Labarthe   +9 more
doaj   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Fully Automated Serum LC-MS/MS Platform and Pediatric Reference Intervals for Organic Acids, Amino Acids, and Acylcarnitines in Children (Ages 0-6 Years): Toward Quantitative Diagnosis of Inborn Errors of Metabolism. [PDF]

Diagnostics (Basel)
Ueyanagi Y, Setoyama D, Nakanishi T, Mushimoto Y, Tocan V, Kobayashi H, Matsui M, Matsumoto S, Fujishima A, Hotta T, Sakata A, Kunisaki Y.   +11 more
europepmc   +1 more source

The cerebral palsy directed acyclic graph: A structural causal model of aetiology

Developmental Medicine &Child Neurology, EarlyView.
The first international cerebral palsy directed acyclic graph (CP‐DAG) maps over 100 nodes and 370 links across biological, clinical, and social domains, offering a unified causal framework to guide research and identify knowledge gaps. Abstract Aim To describe the development of the initial version of the cerebral palsy (CP) directed acyclic graph ...
Shona Goldsmith, Sarah McIntyre, Nadia Badawi, Bernard Dan, Steven Day, Kate Himmelmann, Sandra Julsen Hollung, Bo Jacobsson, Gija Rackauskaite, Robert J. Reynolds   +9 more
wiley   +1 more source

Editorial: Nutritional management of patients with inborn errors of metabolism. [PDF]

Front Nutr
Pedrón-Giner C, Aldamiz-Echevarria L, Couce ML.   +2 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source

Maternal glycaemia and child educational attainment at age 5 in the Born in Bradford cohort

Diabetic Medicine, EarlyView.
Abstract Aims There is emerging evidence that maternal hyperglycaemia may be associated with adverse offspring neuro‐behavioural outcomes, which are foundational to educational success. We hypothesised that higher levels of maternal glucose would be associated with poorer educational attainment in early childhood.
Claire A. Wilson, Gillian Santorelli, Emily Simonoff, Louise M. Howard, Khalida Ismail, Rebecca M. Reynolds   +5 more
wiley   +1 more source

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]

Front Pediatr
Kononets V, Zharmakhanova G, Balmagambetova S, Syrlybayeva L, Berdesheva G, Zhussupova Z, Tautanova A, Kurmambayev Y.   +7 more
europepmc   +1 more source