Results 81 to 90 of about 15,656 (183)

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

Developmental Medicine &Child Neurology, EarlyView.
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

Psychopharmacological Treatment of Prader-Willi Syndrome [PDF]

, 2010
Prader-Willi syndrome (PWS) is a genetic disorder caused by a mutation of chromosome 15, resulting in infantile hypotonia, obesity, short stature, mild-to-moderate mental retardation and neuroendocrinological abnormalities.
Chiou, Pei-Ning, Tsai, Li-Ping
core   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Use of Wearable Sensors in Angelman Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Wearable sensors are a promising method for collecting clinical trial outcome data for people with Angelman syndrome (AS). However, there has yet to be a systematic probe into the ways in which wearable sensors have been successfully used in AS. The current study aims to provide a quantitative summary of wearable sensors used in AS,
Veronika Vozka, Wei Siong Neo, Jane Kinkus Yatcilla, Carolyn E. B. McCormick, Roslyn Harold, Kimberly Gálvez‐Ortega, Mihir Dey, Laura E. Fitzpatrick, A. J. Schwichtenberg, Orlando S. Hoilett, Dan Foti, Bridgette L. Kelleher   +11 more
wiley   +1 more source

A Practical Guide to Chromosome Microarray Interpretation for Paediatricians

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson, Margit Shah, Sarah Josephi‐Taylor, Brieana Dance, Benjamin Nash, Luke St Heaps, Dale Wright, Janette Hayward, Christopher Elliot, Joshua Steadson, Alan Ma   +10 more
wiley   +1 more source

Somatropin therapy in adults with Prader-Willi syndrome [PDF]

, 2004
Prader-Willi syndrome is a complex genetic disorder with a characteristic cognitive, behavioral, and endocrinologic phenotype. Obesity, partial growth hormone (GH) secretion, and hypogonadism are common. Results of several somatropin (GH therapy) studies
Thorén, M,, Höybye, C,
core   +1 more source

Established and Emerging Biomarkers to Characterize Persons at Risk for Obesity—Paving the Way for Targeted Clinical Intervention Trials—A Comprehensive Position Paper

Obesity Reviews, EarlyView.
ABSTRACT Despite all efforts, obesity remains a major health concern worldwide, with continuously increasing rates, affecting approx. 14% of the total world population, being as high as 43% in some countries. As obesity is related to numerous comorbidities, including type 2 diabetes, cardiovascular diseases, and some types of cancer, the consequences ...
Farhad Vahid, Victoria Stopa, Laurent Malisoux, Yvan Devaux, Elsa Lamy, Fernando Capela e Silva, Sarah Forberger, Tiziana de Magistris, Antoni Sureda, Margalida Monserrat‐Mesquida, Maria Pérez‐Jiménez, Rajini Nagrani, Maria Giovanna Onorati, Michele Filippo Fontefrancesco, Jonathan Turner, Mahesh S. Desai, Josep Tur, Cristina Bouzas, Gino Gabriel Bonetti, Oliver Riedel, Gitte Ravn‐Haren, Rikke Andersen, Torsten Bohn   +22 more
wiley   +1 more source

Sobrecarga en los cuidadores de niños y jovenes con síndrome de prader willi: estudio realizado en cali en el 2024 [PDF]

La presente investigación se centra en conocer los aspectos fundamentales del síndrome de Prader-Willi. Sin embargo, su enfoque se extiende hacia el análisis del impacto que dicho síndrome puede tener en los cuidadores, reconociendo una posible ...
Tangarife Nupan, Santiago, Olave Saenz, Naiomi   +1 more
core   +1 more source

Precision or Paradox? AI‐Driven Adiposity Imaging in Women With Overweight and Obesity: A Systematic Review and Meta‐Analysis

Obesity Reviews, EarlyView.
ABSTRACT Artificial intelligence (AI) enables automated, high‐throughput adiposity quantification, offering refined risk stratification for women with overweight and obesity. We systematically reviewed and meta‐analyzed studies evaluating AI‐based segmentation of visceral, subcutaneous, and total fat in adult women populations (BMI: 25–29.9 and ≥ 30 kg/
Asefa Adimasu Taddese, Bjorn T. Tam
wiley   +1 more source

Cross‐syndrome comparison of psychopathological risk factors in Williams syndrome, fragile X syndrome and Prader–Willi syndrome [PDF]

, 2018
Background: Psychopathology is highly prevalent in adolescents and adults with several genetic syndromes associated with intellectual disability, including Williams syndrome (WS), fragile X syndrome (FXS) and Prader–Willi syndrome (PWS).
Armitage, P, Oliver, C, Waite, J, Howlin, P, Dosse, A, Moss, J, Royston, R   +6 more
core   +1 more source