Results 141 to 150 of about 264,137 (313)

Caregiver broader autism phenotype does not moderate the effect of early caregiver-mediated support on infant language outcomes

open access: yes
Caregiver-mediated supports in general have shown mixed evidence for enhancing language outcomes in infants at higher likelihood of autism. While caregivers play a substantial role in caregiver-mediated supports, little is known about whether caregivers'
Wan, Ming; id_orcid   +16 more
core   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde   +12 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Caregiver burden, productivity loss, and indirect costs associated with caring for patients with poststroke spasticity

open access: yes, 2015
Vaidyanathan Ganapathy,1 Glenn D Graham,2 Marco D DiBonaventura,3 Patrick J Gillard,1 Amir Goren,3 Richard D Zorowitz41Allergan, Irvine, CA, USA; 2Department of Veterans Affairs, San Francisco, CA, USA; 3Health Outcomes Practice, Kantar Health, New York,
Graham GD   +5 more
core  

High‐Resolution Genomic Characterization of WAGR Spectrum Disorder: Insights From a Novel Cohort and Literature Synthesis, and Validation of Patient‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George   +11 more
wiley   +1 more source

Hidden victims of HIV/AIDS : the impact of caregiving on elderly caregivers

open access: yes, 2008
Includes bibliographical references (leaves 92-107).The HIV/AIDS pandemic in South Africa and the concomitant high mortality rate of the middle generation has resulted in an increased number of orphans and vulnerable children (DVCs).
Mangerah, Munirah
core  

Melatonin Levels in 89 Individuals With Smith Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley   +1 more source

Association Between Caregiver Opposition to Topical Fluoride and Dental Radiographs

open access: yes
Thesis (Master's)--University of Washington, 2025Purpose: The primary objective of this study was to examine the association between caregiver opposition to topical fluoride and opposition to dental radiographs. The secondary aim was to identify reasons
Lee, Kerry Hope O'Bannon
core  

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Caregiver Empowerment Interventions for Post-Stroke Incontinence: A Narrative Review of Chinese and International Practices

open access: yesJournal of Multidisciplinary Healthcare
Yuping Jiang,1,2 Lihua Wang1,3 1School of Nursing and Rehabilitation, Nantong University, Nantong, 226001, People’s Republic of China; 2Department of Neurology, Nantong First People’s Hospital, Nantong, 226001, People’s Republic of China; 3Department of ...
Jiang Y, Wang L
doaj  

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