Results 11 to 20 of about 282,128 (301)

Etiological Yield of Global Developmental Delay in a Hospital

Journal of Nepal Medical Association, 2018
Introduction: Global developmental delay is the common pediatric problem having spectrum of underlying causes. Etiological diagnosis is very vital for providing information regarding pathogenesis, prognosis, recurrence, risk and treatment options.
Anshu Jha
doaj   +4 more sources

Investigation of global developmental delay [PDF]

Archives of Disease in Childhood, 2006
The investigation of global developmental delay in preschool children varies between centres and between paediatricians. Following a literature search and review of the evidence base, guidelines were developed to assist in the assessment and management of such children presenting to secondary level services.
L, McDonald, A, Rennie, J, Tolmie, P, Galloway, R, McWilliam   +4 more
openaire   +2 more sources

Child with global developmental delay presenting with autistic features. [PDF]

BMJ Case Rep, 2023
Masiran R, Ilias MNA.
europepmc   +4 more sources

Familial global developmental delay secondary to β-mannosidosis

Journal of Pediatric Neurosciences, 2021
β-Mannosidosis is a rare lysosomal storage disorder that is caused by a deficiency of β-mannosidase activity, which is due to mutations of the MANBA gene. Two Indian siblings born out of a third-degree consanguineous marriage presented during late infancy with global developmental delay.
Gowda, Vykuntaraju K., Nagarajan, Balamurugan, Suryanarayana, Srividya G., Srinivasan, Varunvenkat M.   +3 more
openaire   +3 more sources

Case report: A novel FBXW7 gene variant causes global developmental delay. [PDF]

Front Genet
Wang Y, Ma X, Li H, Dai Y, Wang X, Liu L.   +5 more
europepmc   +2 more sources

Beyond the literal meaning of words in children with klinefelter syndrome: two case studies [PDF]

, 2018
Literature on children with Klinefelter Syndrome (KS) points to general linguistic difficulties in both comprehension and production among other cognitive functions, and in the majority of cases, these coexist with an intellectual level within the norms.
Melogno, Sergio, Orsolini, Margherita, Pinto, Maria Antonietta, Tarani, Luigi   +3 more
core   +1 more source

Impact of refractive error correction on mental and visual development in children with global developmental delay

Indian Journal of Health Sciences and Biomedical Research KLEU, 2019
PURPOSE: The purpose of the present study is to evaluate visual acuity and refractive status in children with global developmental delay (GDD) and to study the effect of early correction of refractive errors on vision and developmental quotient (DQ ...
K S Smitha, V D Patil, Mahesh D Kamate, Madhav Prabhu, Umesh Harakuni, O P Rakshitha   +5 more
doaj   +1 more source

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly [PDF]

, 2016
Background: Neurodevelopmental disorders have challenged clinical genetics for decades, with over 700 genes implicated and many whose function remains unknown. The application of whole-exome sequencing is proving pivotal in closing the genotype/phenotype
Anne Debant, Ba, Barbelanne, Bellanger, Bragin, Briançon-Marjollet, Cannet, Catherine Mercer, Chhatriwala, Christine Fagotto-Kaufmann, David Goudie, de Ligt, DeLano, Dent, Dent, Deo, Diana Baralle, Eleanor G Seaby, Estrach, Etienne-Manneville, Govek, Grix, Hu, Huber, M Reza Jabalameli, Ma, McLaren, McPherson, Mercer, Michael J Parker, O'Brien, Peng, Pengelly, Pengelly, Portales-Casamar, Reuben J Pengelly, Robinson, Sarah Ennis, Sarju G Mehta, Schmidt, Skowronek, Stephanie Greville-Heygate, Susanne Schmidt, van Bokhoven, van Haren, Zong   +45 more
core   +5 more sources

Profiling the developmental signatures of genetic global developmental delay. [PDF]

Pediatr Res
Metzler M, Vesoulis ZA, Wambach JA.
europepmc   +2 more sources

MRI Evaluation of Global Developmental Delay: A Retrospective Study

Dubai Medical Journal, 2020
Introduction: Global developmental delay (GDD) is defined as a significant delay in one or more developmental domains. Aims and Objectives: To study the prevalence of normal and abnormal magnetic resonance imaging (MRI) in pediatric patients presenting ...
Hafiz Habibullah, Raidah Albaradie, Shahid Bashir   +2 more
doaj   +1 more source