Caregiver-based perception of disease burden in Schaaf-Yang syndrome
CONCLUSION: Our study demonstrates the necessity for treatments that, adapted to age and in accordance with the caregivers' prioritization, improve the patients' medical condition and thus facilitate their and their families' social participation.PMID:37533374 | DOI:10.1002/mgg3.2262 (Source: Molecular Medicine)
Source: Molecular Medicine - August 3, 2023 Category: Molecular Biology Authors: Laura D ötsch Lisa Matesevac Theresa V Strong Christian P Schaaf Source Type: research
Caregiver ‐based perception of disease burden in Schaaf‐Yang syndrome
ConclusionOur study demonstrates the necessity for treatments that, adapted to age and in accordance with the caregivers' prioritization, improve the patients' medical condition and thus facilitate their and their families' social participation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - August 3, 2023 Category: Genetics & Stem Cells Authors: Laura D ötsch,
Lisa Matesevac,
Theresa V. Strong,
Christian P. Schaaf Tags: ORIGINAL ARTICLE Source Type: research
Contributing factors to postural stability in Prader-Willi syndrome
CONCLUSION: Individuals with PWS had more difficulty maintaining standing balance when relying on information from the somatosensory (C3), visual-vestibular (C4) and vestibular systems (C5, C6). A more stable walk was related to shorter steps, slower velocity and reduced peak quadriceps torque. Participation in multisensory activities that require appropriate prioritization of sensory system(s) input for controlling balance in altered sensory environments should be routinely included. In addition, exercises targeting muscular force and power should be included as part of exercise programming in PWS.PMID:37515958 | DOI:10.1...
Source: Human Movement Science - July 29, 2023 Category: Neurology Authors: Daniela A Rubin Debra J Rose Derrick L Escano Skylar C Holmes Steven A Garcia Derek N Pamukoff Source Type: research
Evaluation of noninvasive prenatal screening for copy number variations among screening laboratories
CONCLUSION: The detection capabilities of NIPS for CNVs still need to be improved and standardized, and FF, deletion size, and read depth are factors that affect the detection rate.PMID:37507082 | DOI:10.1016/j.clinbiochem.2023.110617 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - July 28, 2023 Category: Biochemistry Authors: Ping Tan Dandan Li Lu Chang Jiping Shi Yanxi Han Rui Zhang Jinming Li Source Type: research
Evaluation of noninvasive prenatal screening for copy number variations among screening laboratories
CONCLUSION: The detection capabilities of NIPS for CNVs still need to be improved and standardized, and FF, deletion size, and read depth are factors that affect the detection rate.PMID:37507082 | DOI:10.1016/j.clinbiochem.2023.110617 (Source: Clinical Biochemistry)
Source: Clinical Biochemistry - July 28, 2023 Category: Biochemistry Authors: Ping Tan Dandan Li Lu Chang Jiping Shi Yanxi Han Rui Zhang Jinming Li Source Type: research
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review
ConclusionUpon screening, one in every five adults with PWS had increased urinary albumin or (micro)albuminuria, early signs of microvascular disease. All had normal eGFR, according to non-PWS reference intervals, and none had a formal diagnosis of CVD. As muscle mass is low in PWS, creatinine levels and eGFR may be spuriously normal. Urinalysis in this patient group can be used as a screening tool for microvascular (kidney) disease. We propose an algorithm for the detection and management of microvascular disease in adults with PWS. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - July 21, 2023 Category: Endocrinology Source Type: research
Cognitive function during 3 years of growth hormone in previously GH-treated young adults with PWS
CONCLUSIONS: Three years of GH-treatment in young adults with PWS with 33% of the pediatric dose, maintains total, verbal and performance IQ. The emotional and behavioral disturbances remained stable and were similar compared to peers with other intellectual disabilities.PMID:37440711 | DOI:10.1093/ejendo/lvad084 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - July 13, 2023 Category: Endocrinology Authors: Demi J Trueba-Timmermans Lionne N Grootjen Alicia F Juriaans Eva F Mahabier Gerthe F Kerkhof Edmond H H M Rings Anita C S Hokken-Koelega Source Type: research
Cognitive function during 3 years of growth hormone in previously GH-treated young adults with PWS
CONCLUSIONS: Three years of GH-treatment in young adults with PWS with 33% of the pediatric dose, maintains total, verbal and performance IQ. The emotional and behavioral disturbances remained stable and were similar compared to peers with other intellectual disabilities.PMID:37440711 | DOI:10.1093/ejendo/lvad084 (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - July 13, 2023 Category: Endocrinology Authors: Demi J Trueba-Timmermans Lionne N Grootjen Alicia F Juriaans Eva F Mahabier Gerthe F Kerkhof Edmond H H M Rings Anita C S Hokken-Koelega Source Type: research
Systemic immune profile in Prader-Willi syndrome: elevated matrix metalloproteinase and myeloperoxidase and reduced macrophage inhibitory factor
Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental syndrome with highly increased risk of obesity and cardiovascular disease (CVD). Recent evidence suggests that inflammation is implicated in the... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - July 10, 2023 Category: Internal Medicine Authors: Sigrun Hope, Terje N ærland, Svein Olav Kolset, Thor Ueland, Ole A. Andreassen and Marianne Nordstrøm Tags: Research Source Type: research
Examining Effective Intervention Strategies in a Play-Based Program for Children with Prader-Willi Syndrome
Conclusions: Interventionist strategies of summarization and modeling may most effectively facilitate pretend play. Prompts for emotions may be more effective to elicit affect expression, potentially due to social-cognitive difficulties inherent in PWS. Children with developmental differences may benefit from adults who engage in play as a partner, rather than direct the play, to help the child stay on-task and learn target behaviors. This insight may strengthen future efforts to support socioemotional skills through pretend play. (Source: Journal of Developmental and Physical Disabilities)
Source: Journal of Developmental and Physical Disabilities - July 7, 2023 Category: Disability Source Type: research
Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
Curr Issues Mol Biol. 2023 Jun 6;45(6):4923-4935. doi: 10.3390/cimb45060313.ABSTRACTPrader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormo...
Source: Current Issues in Molecular Biology - June 27, 2023 Category: Molecular Biology Authors: Claudia Camerino Source Type: research
Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
Curr Issues Mol Biol. 2023 Jun 6;45(6):4923-4935. doi: 10.3390/cimb45060313.ABSTRACTPrader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormo...
Source: Current Issues in Molecular Biology - June 27, 2023 Category: Molecular Biology Authors: Claudia Camerino Source Type: research
Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
Curr Issues Mol Biol. 2023 Jun 6;45(6):4923-4935. doi: 10.3390/cimb45060313.ABSTRACTPrader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormo...
Source: Current Issues in Molecular Biology - June 27, 2023 Category: Molecular Biology Authors: Claudia Camerino Source Type: research
Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
Curr Issues Mol Biol. 2023 Jun 6;45(6):4923-4935. doi: 10.3390/cimb45060313.ABSTRACTPrader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormo...
Source: Current Issues in Molecular Biology - June 27, 2023 Category: Molecular Biology Authors: Claudia Camerino Source Type: research
Oxytocin's Regulation of Thermogenesis May Be the Link to Prader-Willi Syndrome
Curr Issues Mol Biol. 2023 Jun 6;45(6):4923-4935. doi: 10.3390/cimb45060313.ABSTRACTPrader-Willi Syndrome (PWS) is a genetic neurodevelopmental disorder that is caused by either the deletion of the paternal allele of 15q11-q13, maternal uniparental disomy of chromosome 15 or defects in the chromosome 15 imprinting centre and is characterized by cognitive impairment, hyperphagia and low metabolic rate with significant risk of obesity, as well as a variety of other maladaptive behaviours and autistic spectrum disorder (ASD). Many of the features seen in PWS are thought to be due to hypothalamic dysfunction resulting in hormo...
Source: Current Issues in Molecular Biology - June 27, 2023 Category: Molecular Biology Authors: Claudia Camerino Source Type: research
