Results 61 to 70 of about 1,165,403 (129)

Lennox-gastaut syndrome in a pediatric patient with prader-willi syndrome: A case report and review

Brain Disorders
Prader-Willi Syndrome is typically caused by paternal deletion of chromosome 15q11-q13. It involves multiple systems and is commonly associated with hypotonia, global developmental delay, and endocrine abnormalities. Seizures are less frequently reported
Raidah Albaradie, Sharook Alhawaj, Wojod Alothman, Shahid Bashir   +3 more
doaj   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2181-2198, October 2026.
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, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Clinical Case A clinical case of Prader–Willi syndrome

Relevance. Prader–Willi syndrome (SPW) is a rare genetic disease associated with a predominant legion of the nervous system with subsequent involvement of other systems.
Tatiana A. Minenkova, Irina G. Khmelevskaya, Aleksandra V. Serezhkina, Natalia S. Razinkova, Darya R. Yakovleva, Rostislav E. Gromov   +5 more
core   +1 more source

Malignant otitis externa in a 21-year-old male patient with Prader–Willi syndrome

SAGE Open Medical Case Reports, 2019
Malignant otitis externa is an invasive infection of the external auditory canal and temporal bone with potentially life-threatening complications. Elderly patients with type 2 diabetes mellitus are the population most commonly affected by malignant ...
Marcos Frata Rihl, Felipe Marchiori Bau, Igor de Oliveira, Manoela Astolfi Vivan, Roseane Cardoso Marchiori   +4 more
doaj   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, Volume 105, Issue 4, Page 408-415, October 2026.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

French database of children and adolescents with Prader-Willi syndrome

BMC Medical Genetics, 2008
Background Prader-Willi syndrome (PWS) is a rare multisystem genetic disease leading to severe complications mainly related to obesity. We strongly lack information on the natural history of this complex disease and on what factors are involved in its ...
Arnaud Catherine, Glattard Melanie, Diene Gwenaelle, Cazals Laurent, Molinas Catherine, Tauber Maithe   +5 more
doaj   +1 more source

IMPROVE 2025: The 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 16, Issue 5, October 2026.
ABSTRACT An international cohort of 161 clinicians and researchers from 19 countries attended the 3rd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE) in Prague, Czech Republic, on 2–4 July 2025. The aims of the meeting were to advance understanding of hyperphagia and obesity caused by defects in the melanocortin‐4 receptor
Jesús Argente, Erica L. T. van den Akker, Metin Cetiner, Karine Clément, Elizabeth Forsythe, Alastair Garfield, Peter Kühnen, Gabriel Ángel Martos‐Moreno, David Meeker, Hermann L. Müller, Hanneke M. van Santen, Julia von Schnurbein, Bérénice Segrestin, Tomohiro Tanaka, Manuel Tena‐Sempere, Martin Wabitsch, Stefanie Zorn, I. Sadaf Farooqi   +17 more
wiley   +1 more source

Relationships between Sensory Processing, Aberrant Behaviors and Food-related Behaviors in Individuals with Prader-Willi Syndrome [PDF]

, 2019
Objective：The level of sensory processing dysfunction was examined and compared with the severity of food-related behaviors and aberrant behaviors in 102 individuals（60 males and 42 females）with Prader-Willi syndrome（PWS）, including 76 patients with ...
Ishii, Atsushi, Ihara, Hiroshi, Gito, Masao, Oto, Yuji, Takahashi, Asami, Ogata, Hiroyuki, Saima, Sohei, Nagai, Toshiro, Murakami, Nobuyuki   +8 more
core  

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1460-1475, October 2026.
Abstract Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions).
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Involvement in daily life activities from the perspectives of children and young people with childhood‐onset disabilities: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1351-1364, October 2026.
This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin, Kinga Quaaden, Helena Lindgren, Mats Granlund, Christine Imms   +4 more
wiley   +1 more source