Results 91 to 100 of about 185,257 (294)

Developing a community-based model of care for venipuncture in children and young adults with an intellectual disability: a retrospective study

BMJ Paediatrics Open
Background Regular blood tests for monitoring metabolic side effects are often unable to be collected for people with an intellectual/developmental disability (ID/DD) and challenging behaviours (CBs) using usual pathways.
Pankaj Garg, Natasha Reid, Larissa Passarello, Catherine O’Hea, Teresa Lai, Bridget Farrell   +5 more
doaj   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Cancer screening participation and outcomes among people with an intellectual disability in the Netherlands: a cross-sectional population-based study

The Lancet Public Health
Summary: Background: People with an intellectual disability face diverse health disparities, including challenges accessing cancer care. In the Netherlands, as in many other countries, there are national screening programmes for early detection of ...
Amina Banda, MSc, Maarten Cuypers, PhD, Jenneken Naaldenberg, PhD, Aura Timen, ProfMD, Geraline Leusink, ProfMD   +4 more
doaj   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

Debates about dedifferentiation: twenty-first century thinking about people with intellectual disabilities as distinct members of the disability group [PDF]

, 2017
Jennifer Clegg, Christine Bigby
openalex   +1 more source

After-school jobs for students with intellectual disabilities

, 2021
Christine Bigby, Lauren De Losa
openalex   +2 more sources

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Health Checks for People with Down Syndrome: A Pooled Analysis of Three Randomized Controlled Trials

Disabilities
Health checks have beneficial effects on health outcomes in adults with intellectual disability; however, little is known about their effect on people with Down syndrome.
Robert S. Ware, Catherine Franklin, Lyn McPherson, Nicholas G. Lennox   +3 more
doaj   +1 more source

Misogyny, racism, and threats to our families: a qualitative study of harassment of female politicians

Kōtuitui
Politicians from around the world are increasingly subject to harassment, with women disproportionately targeted. Recent changes in the sociopolitical landscape have influenced the nature and intensity of this harassment, with New Zealand being no ...
Rhiannon Watson, Lucy Hammans, Oliver Hansby, Justin Barry-Walsh, Susanna Every-Palmer   +4 more
doaj   +1 more source

Quality of life : the evaluation services for people with intellectual disability [PDF]

, 2023
KR McVilly
openalex   +1 more source