Results 31 to 40 of about 77,908 (251)

Novel variants of SYNGAP1 associated epileptic encephalopathy: two cases report and literature review

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, Yong Chen, Xiongying Yu, Yuanyuan Che, Hui Chen, Zhaoshi Yi, Jie Qin, Jianmin Zhong   +7 more
doaj   +1 more source

Association of Disability Quotient with Ocular and Systemic Manifestations in Children with Developmental Delay

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, Sehzadi Malhotra, Dhulika Dhingra, Manika Manika, Shubhangi Kursange, Rahul Singh, Sneha Kumari, Amit Kumar   +7 more
doaj   +1 more source

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

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, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao   +7 more
doaj   +1 more source

Hair Shaft Examination in a Child With Global Developmental Delay. [PDF]

Neurology, 2023
Elwadhi A, Panda PK, Kc N, Pradhan A, Gupta D, Sharawat IK.   +5 more
europepmc   +3 more sources

Evaluation of the child with global developmental delay and intellectual disability [PDF]

Paediatrics & Child Health, 2018
Global developmental delay (GDD) and intellectual disability (ID) are common concerns in the paediatric setting. Etiologies of both conditions are highly heterogeneous. The American Academy of Pediatrics, the American Academy of Neurology and the British Columbia-based Treatable Intellectual Disability Endeavor (TIDE) protocol have each proposed ...
Stacey A, Bélanger, Joannie, Caron
openaire   +2 more sources

Prevalence and Determinants of Developmental Delay in Children of 12–36 Months in the Area of Primary Health Centre, Bela, Nagpur

Indian Journal of Public Health
Background: Developmental delay happens when a child fails to attain age-appropriate milestones. Identification of developmental delay in children is important to initiate early intervention in them which will facilitate the children to have a productive
N. R. Aiswarya Lakshmi, Pradeep R. Deshmukh, Jaya Prasad Tripathy, Urmila Dahake   +3 more
doaj   +1 more source

Neuropsychomotor developmental delay: conceptual map, term definitions, uses and limitations

Revista Paulista de Pediatria, 2015
OBJECTIVE: To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. DATA SOURCE: A literature search was performed in the SciELO Brazil,
Lílian de Fátima Dornelas, Neuza Maria de Castro Duarte, Lívia de Castro Magalhães   +2 more
doaj   +1 more source

Biallelic Mutations in ACACA Cause a Disruption in Lipid Homeostasis That Is Associated With Global Developmental Delay, Microcephaly, and Dysmorphic Facial Features

Frontiers in Cell and Developmental Biology, 2021
ObjectiveWe proposed that the deficit of ACC1 is the cause of patient symptoms including global developmental delay, microcephaly, hypotonia, and dysmorphic facial features.
Xiaoting Lou, Xiyue Zhou, Haiyan Li, Xiangpeng Lu, Xinzhu Bao, Kaiqiang Yang, Xin Liao, Hanxiao Chen, Hezhi Fang, Yanling Yang, Jianxin Lyu, Jianxin Lyu, Hong Zheng   +12 more
doaj   +1 more source

Global developmental delay and its relationship to cognitive skills [PDF]

Developmental Medicine & Child Neurology, 2009
Global developmental delay (GDD) is defined as evidence of significant delays in two or more developmental domains. Our study determined the cognitive skills of a cohort of young children with GDD. A retrospective chart review of all children diagnosed with GDD within a single developmental clinic was carried out.
Emilie M, Riou, Shuvo, Ghosh, Emmett, Francoeur, Michael I, Shevell   +3 more
openaire   +4 more sources

Early Body Mass Index z‐Score Change and Resolution of Severe Malnutrition in Children With Sickle Cell Anemia in a Low‐Income Setting: A Prospective Single‐Arm Extension Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Children with sickle cell anemia (SCA) in low‐income settings are at risk of severe malnutrition, but optimal nutritional management has not been established. We evaluated an intensified ready‐to‐use therapeutic food (RUTF) regimen in children with persistent severe malnutrition after initial treatment and assessed whether early ...
Safiya Gambo, Shehu Umar Abdullahi, Hassan Adam Murtala, Halima Kabir, Khadija A. Shamsu, Sari A. Acra, Virginia A. Stallings, Mark Rodeghier, Michael R. DeBaun, Lauren J. Klein   +9 more
wiley   +1 more source