Objective: To develop an insight scale for Prader-Willi Syndrome (PWS), a genetically determined neurodevelopmental disorder with different psychopathological and behavioural problems.
Methodology: A sample of 36 PWS patients (58.3% women) attended at the Endocrinological Department of the Corporació Sanitària Parc Taulí (Sabadell, Barcelona) was evaluated. Insight was assessed by means of an adapted version of the Scale of Unawareness of Mental Disorder (SUMD), including three general insight dimensions: awareness of having a PWS, awareness of the effects of psychopharmacological medication and awareness of the social consequences, as well as three items that assess awareness of each particular symptom of the disease (obesity/overweight, excessive appetite and excessive food intake).
Results: The final Scale included six items and demonstrated an adequate internal consistency (Cronbach Alfa of 0.857 for Caregivers and 0.798 for Clinicians) but a high inter-rate variability. External validation using an Analytical-Visual Insight Scale was adequate.
Conclusions: The Adapted version for Prader-Willi patients of the Scale of Unawareness of Mental Disorder (APW-SUD) showed adequate psychometric properties and it is an easy to administer means to assess insight in this population.
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http://dx.doi.org/10.1016/j.medcli.2021.07.015 | DOI Listing |
Sci Rep
December 2024
Department of Paediatric Dentistry, Medical University of Warsaw, St. Binieckiego 6, 02-097, Warsaw, Poland.
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases. The aim of the study was to assess hygienic behaviors, use of dental care and frequency of professional preventive procedures among Polish children and adolescents with Prader-Willi, Down, Angelman, Silver-Russell and Smith-Lemli-Opitz syndromes. Parents/legal guardians of children and adolescents with genetic syndromes were included.
View Article and Find Full Text PDFEur Child Adolesc Psychiatry
December 2024
Department of Radiology, Children's Hospital of Chongqing Medical University, Chongqing, 400014, China.
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by dysplasia in early life. Psychoradiology studies have suggested that mental and behavioral deficits in individuals with PWS are linked to abnormalities in brain structural and functional networks. However, little is known about changes in network-based structural-functional coupling and structural/functional topological properties and their correlations with developmental scales in children with PWS.
View Article and Find Full Text PDFJ Assist Reprod Genet
December 2024
Department of Human Genetic, Altamedica, Rome, Italy.
Purpose: Uniparental disomy (UPD) is a genetic condition which both copies of a chromosome are inherited from a single parent, potentially leading to imprinting disorders. This study aimed to assess the integration of Short Tandem Repeat (STR) analysis into Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR) to assess UPD risk and its impact on selecting euploid embryos for embryo transfer in couples with chromosomal translocations involving imprinted chromosomes.
Methods: This study evaluated three couples carrying balanced chromosomal translocations: 45,XX,der(13;14)(q10;q10), 46,XX,t(10;11)(q22;q13), and 45,XY,der(14;15)(q10;q10).
Pediatr Res
December 2024
Division of Molecular Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.
Obesity and weight regulation disorders are determined by the combined effects of genetics and environment. Polygenic obesity results from the combination of common variants in several genes which predisposes the individual to obesity and its related complications. In contrast, monogenic obesity results from changes in single genes, especially those in leptin-melanocortin pathway, and presents with early onset severe obesity, with or without other syndromic features.
View Article and Find Full Text PDFCureus
December 2024
Pediatrics, Neoclinic Children Hospital, Jaipur, IND.
Pediatric obstructive sleep apnea (OSA) is a prevalent yet often underdiagnosed condition affecting 1-5% of children globally, with higher prevalence in populations such as those with Down syndrome and obesity. Characterized by recurrent upper airway obstruction during sleep, OSA can lead to serious health consequences, including neurocognitive deficits, behavioral issues, and cardiovascular complications. The diagnosis is complicated by symptom overlap with conditions like Attention-Deficit/Hyperactivity Disorder (ADHD) while polysomnography (PSG) remains the gold standard for diagnosis, access to this test is limited in many regions.
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