Cognitive deficits in the Snord116 deletion mouse model for Prader-Willi syndrome

A Adhikari, NA Copping, B Onaga, MC Pride… - Neurobiology of learning …, 2019 - Elsevier
Prader-Willi syndrome (PWS) is an imprinted neurodevelopmental disease caused by a loss
of paternal genes on chromosome 15q11-q13. It is characterized by cognitive impairments …

Clinical characteristics and epilepsy in genomic imprinting disorders: Angelman syndrome and Prader–Willi syndrome

TS Wang, WH Tsai, LP Tsai, SB Wong - Tzu Chi Medical Journal, 2020 - journals.lww.com
Angelman syndrome (AS) and Prader–Willi syndrome (PWS) are considered sister
imprinting disorders. Although both AS and PWS congenital neurodevelopmental disorders …

High levels of caregiver burden in Prader-Willi syndrome

N Kayadjanian, L Schwartz, E Farrar, KA Comtois… - PloS one, 2018 - journals.plos.org
Objectives Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder that
is characterized by hyperphagia, developmental delay, incomplete sexual development …

The global Prader–Willi syndrome registry: development, launch, and early demographics

J Bohonowych, J Miller, SE McCandless, TV Strong - Genes, 2019 - mdpi.com
Advances in technologies offer new opportunities to collect and integrate data from a broad
range of sources to advance the understanding of rare diseases and support the …

A profile of mental health and behaviour in Prader–Willi syndrome

SM Feighan, M Hughes, K Maunder… - Journal of …, 2020 - Wiley Online Library
Abstract Background Prader–Willi syndrome (PWS) is a neurogenetic syndrome with an
associated behavioural phenotype and a high incidence of behaviours of concern and …

Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome

K Kowal, M Skrzypek, J Kocki - Plos one, 2022 - journals.plos.org
Background The behavioural phenotype of Prader-Willi Syndrome (PWS) implies a specific
emotional and social-interactive burden for the caregivers of the individuals with PWS. The …

Cerebellar volumes associate with behavioral phenotypes in Prader-Willi syndrome

K Yamada, M Watanabe, K Suzuki, Y Suzuki - The Cerebellum, 2020 - Springer
The objective of this study was to investigate lobule-specific cerebellar structural alterations
relevant to clinical behavioral characteristics of Prader-Willi syndrome (PWS). We performed …

When nurses' vulnerability challenges their moral integrity: A discursive paper

AH Seidlein, E Kuhn - Journal of Advanced Nursing, 2023 - Wiley Online Library
Background Both vulnerability and integrity represent action‐guiding concepts in nursing
practice. However, they are primarily discussed regarding patients—not nurses—and …

Psychological treatment strategies for challenging behaviours in neurodevelopmental disorders: what lies beyond a purely behavioural approach?

KA Woodcock, S Blackwell - Current opinion in psychiatry, 2020 - journals.lww.com
Greater consideration of the interplay between behavioural and nonbehavioural intervention
components; systematic approaches to personalization when going beyond the behavioural …

Oral disorders in children with Prader-Willi syndrome: a case control study

C Munné-Miralvés, L Brunet-Llobet… - Orphanet Journal of …, 2020 - Springer
Abstract Introduction Prader-Willi Syndrome (PWS) is a genetic disorder caused by the lack
of expression of certain paternal genes located on chromosome 15q11-q13. This anomaly …