Results 31 to 40 of about 282,128 (301)
Intranasal insulin to improve developmental delay in children with 22q13 deletion syndrome: an exploratory clinical trial [PDF]
, 2009 Background: The 22q13 deletion syndrome (Phelan– McDermid syndrome) is characterised by a global developmental delay, absent or delayed speech, generalised hypotonia, autistic behaviour and characteristic phenotypic features.
Enders, Angelika +4 more
core +1 more source
Global developmental delay - a delay in development of terminology [PDF]
Developmental Medicine & Child Neurology, 2011 Once terms are published and repeatedly cited in the literature, they come to be regarded as the ‘accepted’ term. These terms can then be used for decades, especially in resourcepoor countries where keeping up to date is less easy. Using a preliminary database search going back to 1976, the term ‘global developmental delay’ (GDD) is only mentioned in ...
openaire +4 more sources
Delhi Journal of Ophthalmology, 2023 Aim: This study aims to study the various ocular and systemic manifestations in children with developmental delay (DD) and its association with development quotient.
Meenakshi Wadhwani +7 more
doaj +1 more source
Ocular Manifestation of CACNA1A Pathogenic Variants
Pediatric Neurology Briefs, 2016 Investigators from The Children’s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children’s Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven ...
Karit Reinson, Katrin Õunap
doaj +1 more source
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms [PDF]
Korean Journal of Pediatrics, 2016 Phelan-McDermid syndrome is a rare genetic disorder caused by the terminal or interstitial deletion of the chromosome 22q13.3. Patients with this syndrome usually have global developmental delay, hypotonia, and speech delays.
Yoon-Myung Kim +9 more
doaj +1 more source
Motor skill delays in pre-school children with leukemia one year after treatment: Hematopoietic stem cell transplantation therapy as an important risk factor [PDF]
, 2017 CNS-directed therapies for the treatment of leukemia can adversely affect the acquisition of new skills, such as reading/writing and math. Two years after the end of treatments, children show gross and fine motor skill delays that may persist even when ...
Barbara Tosetto +6 more
core +2 more sources
Acta Epileptologica, 2023 Background SYNGAP1 is a significant genetic risk factor for global developmental delay, autism spectrum disorder, and epileptic encephalopathy. De novo loss-of-function variants in this gene cause a neurodevelopmental disorder, for example, early-onset ...
Xingying Zeng +7 more
doaj +1 more source
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]
, 2017 Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K +17 more
core +2 more sources
Frontiers in Pediatrics, 2020 Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically ...
Liuyan Zhu +7 more
doaj +1 more source
Parent training for preschool ADHD: a randomized controlled trial of specialized and generic programs [PDF]
, 2015 BackgroundThe New Forest Parenting Package' (NFPP), an 8-week home-based intervention for parents of preschoolers with attention-deficit/hyperactivity disorder (ADHD), fosters constructive parenting to target ADHD-related dysfunctions in attention and ...
Abikoff, HB +9 more
core +1 more source