Hypothalamic syndrome

HL Müller, M Tauber, EA Lawson, J Özyurt… - Nature reviews Disease …, 2022 - nature.com
Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-
related injury to the hypothalamus, most commonly associated with rare, non-cancerous …

[HTML][HTML] Prader-willi syndrome

DJ Driscoll, JL Miller, S Schwartz, SB Cassidy - 2017 - europepmc.org
Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in
early infancy, followed in later infancy or early childhood by excessive eating and gradual …

Intranasal carbetocin reduces hyperphagia, anxiousness, and distress in prader-willi syndrome: CARE-PWS phase 3 trial

E Roof, CL Deal, SE McCandless… - The Journal of …, 2023 - academic.oup.com
Abstract Context Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by
endocrine and neuropsychiatric problems including hyperphagia, anxiousness, and …

Linking oxytocin and arginine vasopressin signaling abnormalities to social behavior impairments in Prader-Willi syndrome

O Oztan, O Zyga, DEJ Stafford, KJ Parker - Neuroscience & Biobehavioral …, 2022 - Elsevier
Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder. Global
hypothalamic dysfunction is a core feature of PWS and has been implicated as a driver of …

Heterogeneity of autism characteristics in genetic syndromes: Key considerations for assessment and support

L Jenner, C Richards, R Howard, J Moss - Current developmental …, 2023 - Springer
Abstract Purpose of Review Elevated prevalence of autism characteristics is reported in
genetic syndromes associated with intellectual disability. This review summarises recent …

Genetic conditions of short stature: A review of three classic examples

MG Butler, BS Miller, A Romano, J Ross… - Frontiers in …, 2022 - frontiersin.org
Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked
by short stature. Each disorder has been recognized for several decades and is backed by …

Approach to the Patient With Prader–Willi Syndrome

C Höybye, M Tauber - The Journal of Clinical Endocrinology & …, 2022 - academic.oup.com
Prader–Willi syndrome (PWS) is a rare, multisystemic, genetic disorder involving the
hypothalamus. It is caused by loss of expression of paternally inherited genes in …

Hypothalamic AAV-BDNF gene therapy improves metabolic function and behavior in the Magel2-null mouse model of Prader-Willi syndrome

NJ Queen, X Zou, JM Anderson, W Huang… - … Therapy-Methods & …, 2022 - cell.com
Individuals with Prader-Willi syndrome (PWS) display developmental delays, cognitive
impairment, excessive hunger, obesity, and various behavioral abnormalities. Current PWS …

Body weight, behaviours of concern, and social contact in adults and adolescents with Prader-Willi syndrome in full-time care services: Findings from pooled …

BM Hughes, A Holland… - Orphanet Journal of …, 2024 - Springer
Abstract Background Prader-Willi syndrome (PWS) is a complex genetic
neurodevelopmental condition characterised by a range of debilitating and lifelong …

The transition from pediatric to adult care in individuals with Prader-Willi syndrome

C Poitou, A Holland, C Höybye… - Endocrine …, 2023 - ec.bioscientifica.com
Prader–Willi syndrome (PWS), the most common form of syndromic obesity, is a complex
neurodevelopmental genetic disorder including obesity with hyperphagia, endocrine and …