Results 31 to 40 of about 7,106 (148)

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Zinc intake, status and indices of cognitive function in adults and children: a systematic review and meta-analysis [PDF]

, 2015
In developing countries, deficiencies of micronutrients are thought to have a major impact on child development; however, a consensus on the specific relationship between dietary zinc intake and cognitive function remains elusive.
A Eilander, A Takeda, A Takeda, A Takeda, A-L Stammers, B Sandstrom, BJ Stoecker, BKY Bitanihirwe, C Best, CA Gewa, CL Dvergsten, CW Levenson, D Benton, DB Kaye, E Halas, E Huskisson, EA Maylor, ES Halas, HH Sandstead, HH Sandstead, HH Sandstead, HH Sandstead, HH Sandstead, I Dreosti, J Higgins, JA Schmitt, JG Penland, JL Black, JM Flinn, K Kelley, K Stanley, K Umamaheswari, KH Brown, KR Cavan, L Hubbs-Tait, L Serra-Majem, L Serra-Majem, LE Caulfield, LE Murray-Kolb, LS Hurley, M Golub, M Hambidge, M Nissensohn, M Nissensohn, M Nissensohn, M Warthon-Medina, Matthys, MJ Dauncey, MK Georgieff, MM Black, MM Black, MM Black, MM Black, MW Terhune, N M Lowe, NM Lowe, NM Lowe, P Christian, P Qualter, PK Lam, RAM Dhonukshe-Rutten, RE Black, RJ Wood, RM Ortega, RP Tupe, RS Gibson, S Bhatnagar, S Dillon, S Gao, S Gogia, SL Sensi, SM Grantham-McGregor, SM Grantham-McGregor, SP Walker, ST Boroujeni, T Pongcharoen, T Tamura, TF Massaro, V H Moran, VH Moran, VH Moran, W Maret   +81 more
core   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich, Darren R. Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N. North, Giacomo Vivanti, Jonathan M. Payne   +6 more
wiley   +1 more source

A bio‐ecological model for early screening of developmental coordination disorder

Developmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70069 Abstract Aim To develop and externally validate a bio‐ecological model for early screening of developmental coordination disorder (DCD) using maternal and environmental risk factors from electronic health records, aimed at improving early detection in children under 5 years.
Xiaotian Dai, Tai Ren, Gareth Williams, Gary Jones, Fei Li, Wenchong Du, Jing Hua   +6 more
wiley   +1 more source

Concurrent validity of intelligence assessments in children with developmental disabilities in an Asian setting: Comparison of the Kaufman brief intelligence test – Second edition with the Wechsler Intelligence Scales

Pediatrics and Neonatology
Background: This study was carried out to compare the concurrent validity of the Kaufman Brief Intelligence Test – Second Edition (KBIT-2) with that of two Wechsler Intelligence Scales (Wechsler Intelligence Scale for Children – Fifth Edition (WISC-V ...
Alison S.M. Cheng, Jolene Q.J. To, Noor Hafizah Wahianuar, Yiong Huak Chan, Kalyani Vijaykumar Mulay   +4 more
doaj   +1 more source

Structural validity of the Pain Interference Questionnaire and Fear of Pain Questionnaire for children and young people with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
This paper examined the structural validity and internal consistency of two newly adapted pain assessment tools for children and young people with cerebral palsy and chronic pain ‐ The Pain Interference Questionnaire for Cerebral Palsy and the Fear of Pain Questionnaire Adapted for Cerebral Palsy. Plain language summary: https://onlinelibrary.wiley.com/
Meredith G. Smith, Rachel J. Gibson, Remo N. Russo, Nadine Smith, Adrienne R. Harvey   +4 more
wiley   +1 more source

The early development of infant siblings of children with autism spectrum disorder : characteristics of sibling interactions [PDF]

, 2018
Although sibling interactions play an important role in children's early development, they are rarely studied in very young children with an older brother or sister with autism spectrum disorder (ASD). This study used a naturalistic, observational method
Bontinck, Chloè, Demurie, Ellen, Roeyers, Herbert, Van der Paelt, Sara, Warreyn, Petra   +4 more
core   +2 more sources

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients [PDF]

, 2014
Background Williams syndrome (WS) is a rare neurodevelopmental disorder arising from a hemizygotic deletion of approximately 27 genes on chromosome 7, at locus 7q11.23.
A Antonell, A Karmiloff-Smith, A Karmiloff-Smith, A Karmiloff-Smith, AD Smith, AE Richardson, Annette Karmiloff-Smith, B Landau, BR Pober, C Fusco, C Schubert, CA Morris, CC Hoogenraad, CD Elliott, D Voyer, D Wechsler, E Mellet, EJ Young, EK Farran, EK Farran, EK Farran, EK Farran, EK Farran, Emily K Farran, Emma Meaburn, Esther Chin, Francis Sansbury, G Vandeweyer, H Hirota, Hannah Broadbent, HJ Broadbent, HJ Broadbent, HR Purser, J Bullens, J Bullens, J Fenner, J Huttenlocher, J Raven, J Van Herwegen, JM Frangiskakis, JM Zacks, JR Crawford, JR Crawford, JR Pani, K Iglói, K Iglói, Kay Metcalfe, L Dai, LR Osborne, M Bayes, M Castelo-Branco, M Fayasse, M Hegarty, M Hegarty, M Kozhevnikov, M Nardini, M Nardini, M Tassabehji, M Tassabehji, MA Porter, May Tassabehji, N Newcombe, Peter Turnpenny, RN Shepard, U Bellugi, U Koehler, V Gray, Y Meng, Z Urban   +68 more
core   +3 more sources

Cognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study

Epilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is a developmental and epileptic encephalopathy characterized by drug‐resistant seizures and developmental slowing. Although cognitive and executive function deficits have been described, their early trajectory is not well understood.
Joseph Sullivan, M. Scott Perry, Ingrid E. Scheffer, James Wheless, Susana Boronat, Andreas Brunklaus, Linda Laux, Anup D. Patel, Colin Roberts, Dennis Dlugos, Deborah Holder, Kelly Knupp, Matt Lallas, Steven Phillips, Eric Segal, Dennis Lal, Elaine Wirrell, Sameer Zuberi, Gerard Gioia, Rebecca Shaffer, Madison M. Berl, Mary Wojnaroski, Sarah Christensen, Alexander King, Emma S. James, Maria Candida Vila, Norman Huang, Jacqueline S. Gofshteyn, Salvador Rico   +28 more
wiley   +1 more source