260 results on '"Prader Willi syndrome"'
Search Results
2. A genetic condition that spans both extremes of the nutritional spectrum
- Author
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Lisa M. Johnson
- Subjects
Prader Willi syndrome ,Nutrition ,Obesity ,Hyperphagia ,Pediatric ,Medicine (General) ,R5-920 ,Chemistry ,QD1-999 - Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region, known as the Prader Willi critical region. Nutritional clinical manifestations change with age and are described in four different phases. The phases span both extremes of the nutritional spectrum, beginning with an infant with poor sucking reflexes and failure to thrive then progressing to an adolescent who may have hyperphagia and be at risk for obesity. The phenotype is likely due to hypothalamic dysfunction due to genetic changes in the Prader Willi critical region. Researchers are examining the pathological mechanisms that determine the disease course.
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- 2024
- Full Text
- View/download PDF
3. Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside
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Barbara Bardoni, Maria Vincenza Catania, and Viviana Trezza
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neurodevelopmental disorders ,Fragile X Syndrome ,Down Syndrome ,Rett Syndrome ,Shank3a ,Prader Willi Syndrome ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Published
- 2024
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- View/download PDF
4. Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms
- Author
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O'Hora, Kathleen P, Zhang, Zizhao, Vajdi, Ariana, Kushan-Wells, Leila, Huang, Zhengyi Sissi, Pacheco-Hansen, Laura, Roof, Elizabeth, Holland, Anthony, Gur, Ruben C, and Bearden, Carrie E
- Subjects
Paediatrics ,Biomedical and Clinical Sciences ,Brain Disorders ,Prevention ,Congenital Structural Anomalies ,Rare Diseases ,Mental Health ,Pediatric ,Sleep Research ,Neurosciences ,Basic Behavioral and Social Science ,Genetics ,Behavioral and Social Science ,Clinical Research ,Aetiology ,2.3 Psychological ,social and economic factors ,Mental health ,Prader Willi Syndrome ,psychosis ,sleep ,genetic subtype ,cognition ,remote assessment ,neurogenetic disorders ,Clinical Sciences ,Public Health and Health Services ,Psychology ,Clinical sciences - Abstract
BackgroundPrader Willi Syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copies of maternally imprinted gene(s) located at 15q11-q13. While the physical and medical characteristics of PWS, including short stature, hyperphagia and endocrine dysfunction are well-characterized, systematic investigation of the long-recognized psychiatric manifestations has been recent.MethodsHere, we report on the first remote (web-based) assessment of neurobehavioral traits, including psychosis-risk symptoms (Prodromal Questionnaire-Brief Version; PQ-B) and sleep behaviors (Pittsburgh Sleep Quality Index), in a cohort of 128 participants with PWS, of whom 48% had a paternal deletion, 36% uniparental disomy, 2.4% an imprinting mutation and 13% unknown mutation (mean age 19.3 years ± 8.4; 53.9% female). We aimed to identify the most informative variables that contribute to psychosis-risk symptoms. Multiple domains of cognition (accuracy and speed) were also assessed in a subset of PWS participants (n = 39) using the Penn Computerized Neurocognitive Battery (Penn-CNB).ResultsIndividuals with PWS reported a range of psychosis-risk symptoms, with over half reporting cognitive disorganization (63.1%) and about one third reporting unusual beliefs (38.6%) and/or suspiciousness (33.3%). Subjectively-reported sleep quality, nap frequency, sleep duration, sleep disturbance, and daytime dysfunction were significant predictors of psychosis-risk symptom frequency and severity (all p's < 0.029). Sleep disturbance ratings were the strongest predictors of psychosis-risk symptoms. Regarding cognition, individuals with PWS showed the most prominent deficits in accuracy on measures of social cognition involving faces, namely Face Memory, Age Differentiation and Emotion Recognition, and greatest slowing on measures of Attention and Emotion Recognition. However, there were no significant differences in psychosis-risk symptoms or cognitive performance as a function of PWS genetic subtype.ConclusionsPWS is associated with a high prevalence of distressing psychosis-risk symptoms, which are associated with sleep disturbance. Findings indicate that self/parent-reported neurobehavioral symptoms and cognition can be assessed remotely in individuals with PWS, which has implications for future large-scale investigations of rare neurogenetic disorders.
- Published
- 2022
5. Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside.
- Author
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Bardoni, Barbara, Catania, Maria Vincenza, and Trezza, Viviana
- Subjects
THERAPEUTICS ,FRAGILE X syndrome ,NEURAL development ,PEOPLE with Down syndrome - Abstract
This article, titled "Editorial: Innovative approaches and therapeutic perspectives for early-onset neurodevelopmental disorders: from bench to bedside," provides an overview of research on neurodevelopmental disorders (NDDs). The article includes reviews and original research papers on various NDDs, such as Rett Syndrome, Fragile X Syndrome, Down Syndrome, and Prader-Willi Syndrome. The authors discuss innovative treatment approaches, including molecular delivery through nanoparticles and reintroducing functional interneurons. They also explore the challenges of developing preclinical models and the role of specific proteins in the pathophysiology of NDDs. The article emphasizes the need for personalized treatments and the importance of understanding the molecular mechanisms underlying these disorders. [Extracted from the article]
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- 2024
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6. Neurogenic LUT symptoms in Children with Rare Diseases
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Nijman, Rien J. M., van Laecke, Erik, Mosiello, Giovanni, Liao, Limin, editor, and Madersbacher, Helmut, editor
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- 2023
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7. Effects of textual prompting and constant time delay on social communication skills of young adults with Prader Willi syndrome during online socialisation activities.
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Vascelli, Luca, Berardo, Federica, Iacomini, Silvia, Scorza, Maristella, and Cavallini, Francesca
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SOCIALIZATION , *TEACHING methods , *COMMUNICATIVE competence , *TIME , *PRADER-Willi syndrome , *DEVELOPMENTAL disabilities , *SOCIAL isolation , *CASE studies , *LONELINESS , *RESEARCH funding , *SOCIAL skills , *INTELLECTUAL disabilities - Abstract
Background: Social communication skills are critical for full participation in social activities in primary life contexts for adolescents and young adults with neurodevelopmental disorders. Method: Two young adults with Prader Willi syndrome participated in an online socialisation programme with elderly and adolescent conversational partners. We used a multiple baseline across conversational partners design for each participant to investigate the effects of textual prompts and constant time delay on the number of initiations and follow‐up questions. We evaluated the social validity. Results: Both participants improved their social communication skills during online socialisation with partners. Participants with Prader Willi syndrome enjoyed participating in this study. Elderly conversational partners reported a slight decrease in loneliness following online socialisation. Conclusion: The use of textual prompts and constant time delay may be helpful to promote opportunities for interaction among segments of the population potentially at risk of social isolation during online socialisation. [ABSTRACT FROM AUTHOR]
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- 2023
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8. Identifying novel targets for the snoRNA class of stable non-coding RNAs
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Peters, Rosie Elizabeth, Tollervey, David, and Beggs, Jean
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572.8 ,mRNA ,non-coding RNA ,ncRNA ,snoRNAs ,Prader Willi Syndrome - Abstract
Non-coding RNAs (ncRNAs) are a subset of RNAs that do not code for protein. They are divided into a number of different groups based on their function and targets. Small nucleolar RNAs (snoRNAs) are ncRNAs that have long been known to function as guides for ribosomal RNA (rRNA) modifying enzymes. They are classified into two major groups: box C/D snoRNAs and box H/ACA snoRNAs. Most box C/D snoRNAs direct the 2'-O-methylation of rRNA substrates, but some lack known targets and are therefore termed 'orphan snoRNAs'. Studies have implicated orphan snoRNAs in pre-mRNA processing and stability, but the functional consequence of snoRNA binding to mRNAs has not been fully determined. Saccharomyces cerevisiae had two orphan snoRNAs, snR4 and snR45, with no known function in ribosome synthesis. This project aimed to determine the targets of these snoRNAs, and investigate the effects of snoRNA binding to non-canonical target RNAs, as well as the underlying mechanism. Synthetic gene array screens with deletions of the SNR4 and SNR45 genes identified multiple positive and negative genetic interactions. In particular, deletion of either snoRNA gene was synthetic-lethal with mutation of the snoRNA-associated methyltransferase, Nop1 (Fibrillarin in humans), demonstrating that both have important functions. CLASH analyses of RNA-RNA interactions showed that these snoRNAs bind multiple mRNAs, while RNA sequencing and RT-qPCR revealed that snoRNA deletion altered mRNA abundance. Both orphan snoRNAs were well conserved between fungi, with a region of high conservation indicating a potential binding site. Associations were identified between snR4 and snR45 and multiple sequences within rRNA, including two recently identified sites of 18S rRNA acetylation. Work elsewhere showed that snR4 and snR45 function as guides for the acetyltransferase Kre33 using the region of high conservation, removing their 'orphan' status. Orphan snoRNAs have been implicated in human diseases, such as Prader Willi Syndrome and cancers. The work discussed in this thesis helps to elucidate the RNA interactions of yeast orphan snoRNAs. It has provided a greater understanding of the mechanisms involved, and may inform future work in combatting human disease.
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- 2018
9. The future of rare autonomic disease research.
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Rand, Casey M. and Weese-Mayer, Debra E.
- Subjects
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HYPOVENTILATION , *RARE diseases , *CONGENITAL disorders , *GENETIC disorders - Abstract
Continued improvement in interoperability of electronic healthcare data and virtual disease registry data (e.g., international CCHS Registry: https://clinicaltrials.gov/show/NCT03088020; international ROHHAD Registry: https://clinicaltrials.gov/show/NCT03135730) can make this a reality, even in rare diseases. As the genetic basis of more rare diseases is identified, newborn genetic screening programs can be designed or enhanced to allow earlier diagnosis, expedited intervention, sustained disease-specific treatment, and a better understanding of disease natural history. Keywords: Pediatric autonomic disorders; Congenital central Hypoventilation Syndrome (CCHS); Familial dysautonomia; Prader Willi syndrome; Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD); Rett syndrome EN Pediatric autonomic disorders Congenital central Hypoventilation Syndrome (CCHS) Familial dysautonomia Prader Willi syndrome Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation (ROHHAD) Rett syndrome 211 213 3 07/03/23 20230601 NES 230601 There are more than 10,000 known rare diseases, defined as affecting < 200,000 people in the US or fewer than 1 in 2000 in the EU, collectively affecting ~ 350 million people worldwide [[1]]. [Extracted from the article]
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- 2023
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10. Long-term effect of growth hormone on sleep-disordered breathing in Malaysian children with Prader-Willi syndrome: a retrospective study.
- Author
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Tan YT, Azanan MS, Hng SY, Eg KP, Jalaludin MY, Thong MK, Tae SK, Samingan N, Anuar A, and Nathan AM
- Subjects
- Humans, Retrospective Studies, Male, Female, Malaysia epidemiology, Child, Child, Preschool, Insulin-Like Growth Factor I, Treatment Outcome, Infant, Prader-Willi Syndrome drug therapy, Prader-Willi Syndrome complications, Sleep Apnea Syndromes drug therapy, Human Growth Hormone therapeutic use, Polysomnography
- Abstract
Study Objectives: The effect of recombinant human growth hormone (rhGH) on sleep-disordered breathing (SDB) in Malaysian children with Prader-Willi syndrome (PWS) is under-investigated. We determined (1) the short- and long-term effects of rhGH and (2) factors associated with worsening SDB in children with PWS receiving rhGH., Methods: This retrospective study included children with PWS (with and without rhGH) who had undergone at least 1 polysomnography. Outcomes measured were the presence of SDB before and after starting rhGH and the progress of SDB with and without rhGH. Serial insulin-like growth factor 1 (IGF-1) measurements were recorded., Results: One-hundred and thirteen polysomnograms were analyzed. The majority (92.3%) of initial polysomnograms showed SDB, with a median (interquartile range) apnea-hypopnea index of 5.0 (2.6, 16.3) events/h. The age for receiving rhGH was a median (IQR) of 1.9 (0.7, 3.4) years. One-third (36.8%) had worsening SDB after initiating rhGH, which was associated with higher IGF-1 levels post-rhGH ( P = .007). After a median of 5 years of rhGH, 73.6% maintained or reduced their positive airway pressure settings. Without rhGH, 80% had increased their positive airway pressure settings. Worsening SDB while on rhGH was associated with higher body mass index, lower rhGH dose, higher IGF-1 levels, and non-15q deletion., Conclusions: The majority of Malaysian children with PWS had SDB. At initiation of rhGH, one-third of patients had worsening SDB, associated with increased IGF-1 levels. Stabilization of SDB was more frequently seen in those receiving long-term rhGH. Worsening SDB while on rhGH was associated with a higher body mass index, receiving a lower dose of rhGH, higher IGF-1 levels, and non-15q deletion., Citation: Tan YT, Azanan MS, Hng SY, et al. Long-term effect of growth hormone on sleep-disordered breathing in Malaysian children with Prader-Willi syndrome: a retrospective study. J Clin Sleep Med . 2024;20(8):1291-1299., (© 2024 American Academy of Sleep Medicine.)
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- 2024
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11. Clinical Profile and Molecular Genetic Analysis of Prader - Willi Syndrome: A Single Center Experience.
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Sridhar, Subbiah, Nazirudeen, Roshan, Ramasamy, Suresh, Natarajan, Vasanthiy, Thiagarajan, Kumanan, and Karthika, Lakshmanan Nivethitha
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SYMPTOMS , *PUBERTY , *ADOLESCENT obesity , *INTELLECTUAL disabilities , *SHORT stature , *SYNDROMES - Abstract
Aim: The prevalence of childhood and adolescent obesity is increasing worldwide as well as in India. Prader--Willi syndrome (PWS) is one of the most common causes of syndromic obesity with varied clinical manifestations across different lifespan. Herewith, we describe clinical and molecular characteristics of eight PWS who were diagnosed in an obesity clinic of tertiary care hospital. Materials and Methods: Clinically suspected cases of PWS were screened between January 2014 and January 2022. Detailed history and clinical examination were done to look for typical features of PWS like characteristic facial appearance, short stature, obesity, hyperphagia, delayed puberty or hypogonadism, diabetes mellitus, developmental delay, cognitive dysfunction, learning disabilities or abnormal behavior. All were evaluated, with 75 g oral glucose tolerance tests (GTT), HbA1c, Free T4, TSH, LH, FSH, testosterone, and growth hormone level. Intelligent quotient (IQ) of each patient was assessed by a psychiatrist using Binet-Kamat test. Molecular confirmation of clinically suspected PWS was done by either Methylation-specific polymerase chain reaction (MS-PCR) or Fluorescence in situ Hybridization (FISH) methods. Results: Based on clinical and molecular characteristics, eight were diagnosed as PWS. Except one, all were male with characteristic facies, mean age of study cohort was 12 years and mean BMI of 44.58. Obesity, short stature, hyperphagia, hypotonia, and mild to moderate mental retardation were noted in entire (100%) PWS study population. All male PWS patients had cryptorchidism, which was bilateral in six patients and unilateral (right undescended testes) in one. Apart from obesity, short stature, other endocrine associations noted were diabetes mellitus in 50% and subclinical hypothyroidism in 37% of PWS. Molecular characteristics of PWS were confirmed by Methylation-specific PCR in seven and by FISH method in one. Conclusion: Prader-Willi syndrome should be kept in mind in case of childhood or adolescent obesity with short stature, hypotonia, cryptorchidism, and developmental delay or cognitive dysfunction. Judicious use of molecular diagnostic testing should be made in all clinically suspected cases. Early diagnosis and appropriate management of this complex disorder by a multidisciplinary team will improve the quality of life and treatment outcome. [ABSTRACT FROM AUTHOR]
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- 2022
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12. Oxytocin Trial in Prader-Willi Syndrome
- Author
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National Institutes of Health (NIH)
- Published
- 2018
13. Diagnosis of Central Adrenal Insufficiency in Patients With Prader-Willi Syndrome
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Manmohan Kamboj, Associate Professor of Pediatrics, Section of Endocrinology, Metabolism and Diabetes
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- 2018
14. Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms.
- Author
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O'Hora, Kathleen P., Zhang, Zizhao, Vajdi, Ariana, Kushan-Wells, Leila, Huang, Zhengyi Sissi, Pacheco-Hansen, Laura, Roof, Elizabeth, Holland, Anthony, Gur, Ruben C., and Bearden, Carrie E.
- Subjects
SLEEP interruptions ,SLEEP quality ,EMOTION recognition ,SHORT stature ,SLEEP ,PSYCHOLOGICAL distress - Abstract
Background: Prader Willi Syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copies of maternally imprinted gene(s) located at 15q11–q13. While the physical and medical characteristics of PWS, including short stature, hyperphagia and endocrine dysfunction are well-characterized, systematic investigation of the long-recognized psychiatric manifestations has been recent. Methods: Here, we report on the first remote (web-based) assessment of neurobehavioral traits, including psychosis-risk symptoms (Prodromal Questionnaire-Brief Version; PQ-B) and sleep behaviors (Pittsburgh Sleep Quality Index), in a cohort of 128 participants with PWS, of whom 48% had a paternal deletion, 36% uniparental disomy, 2.4% an imprinting mutation and 13% unknown mutation (mean age 19.3 years ± 8.4; 53.9% female). We aimed to identify the most informative variables that contribute to psychosis-risk symptoms. Multiple domains of cognition (accuracy and speed) were also assessed in a subset of PWS participants (n = 39) using the Penn Computerized Neurocognitive Battery (Penn-CNB). Results: Individuals with PWS reported a range of psychosis-risk symptoms, with over half reporting cognitive disorganization (63.1%) and about one third reporting unusual beliefs (38.6%) and/or suspiciousness (33.3%). Subjectively-reported sleep quality, nap frequency, sleep duration, sleep disturbance, and daytime dysfunction were significant predictors of psychosis-risk symptom frequency and severity (all p's < 0.029). Sleep disturbance ratings were the strongest predictors of psychosis-risk symptoms. Regarding cognition, individuals with PWS showed the most prominent deficits in accuracy on measures of social cognition involving faces, namely Face Memory, Age Differentiation and Emotion Recognition, and greatest slowing on measures of Attention and Emotion Recognition. However, there were no significant differences in psychosis-risk symptoms or cognitive performance as a function of PWS genetic subtype. Conclusions: PWS is associated with a high prevalence of distressing psychosis-risk symptoms, which are associated with sleep disturbance. Findings indicate that self/parent-reported neurobehavioral symptoms and cognition can be assessed remotely in individuals with PWS, which has implications for future large-scale investigations of rare neurogenetic disorders. [ABSTRACT FROM AUTHOR]
- Published
- 2022
- Full Text
- View/download PDF
15. Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms
- Author
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Kathleen P. O'Hora, Zizhao Zhang, Ariana Vajdi, Leila Kushan-Wells, Zhengyi Sissi Huang, Laura Pacheco-Hansen, Elizabeth Roof, Anthony Holland, Ruben C. Gur, and Carrie E. Bearden
- Subjects
Prader Willi Syndrome ,psychosis ,sleep ,genetic subtype ,cognition ,remote assessment ,Psychiatry ,RC435-571 - Abstract
BackgroundPrader Willi Syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copies of maternally imprinted gene(s) located at 15q11–q13. While the physical and medical characteristics of PWS, including short stature, hyperphagia and endocrine dysfunction are well-characterized, systematic investigation of the long-recognized psychiatric manifestations has been recent.MethodsHere, we report on the first remote (web-based) assessment of neurobehavioral traits, including psychosis-risk symptoms (Prodromal Questionnaire-Brief Version; PQ-B) and sleep behaviors (Pittsburgh Sleep Quality Index), in a cohort of 128 participants with PWS, of whom 48% had a paternal deletion, 36% uniparental disomy, 2.4% an imprinting mutation and 13% unknown mutation (mean age 19.3 years ± 8.4; 53.9% female). We aimed to identify the most informative variables that contribute to psychosis-risk symptoms. Multiple domains of cognition (accuracy and speed) were also assessed in a subset of PWS participants (n = 39) using the Penn Computerized Neurocognitive Battery (Penn-CNB).ResultsIndividuals with PWS reported a range of psychosis-risk symptoms, with over half reporting cognitive disorganization (63.1%) and about one third reporting unusual beliefs (38.6%) and/or suspiciousness (33.3%). Subjectively-reported sleep quality, nap frequency, sleep duration, sleep disturbance, and daytime dysfunction were significant predictors of psychosis-risk symptom frequency and severity (all p's < 0.029). Sleep disturbance ratings were the strongest predictors of psychosis-risk symptoms. Regarding cognition, individuals with PWS showed the most prominent deficits in accuracy on measures of social cognition involving faces, namely Face Memory, Age Differentiation and Emotion Recognition, and greatest slowing on measures of Attention and Emotion Recognition. However, there were no significant differences in psychosis-risk symptoms or cognitive performance as a function of PWS genetic subtype.ConclusionsPWS is associated with a high prevalence of distressing psychosis-risk symptoms, which are associated with sleep disturbance. Findings indicate that self/parent-reported neurobehavioral symptoms and cognition can be assessed remotely in individuals with PWS, which has implications for future large-scale investigations of rare neurogenetic disorders.
- Published
- 2022
- Full Text
- View/download PDF
16. Deficiency of the paternally inherited gene Magel2 alters the development of separation‐induced vocalization and maternal behavior in mice.
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Bosque Ortiz, Gabriela M., Santana, Gustavo M., and Dietrich, Marcelo O.
- Subjects
- *
SOUNDS , *GENOMIC imprinting , *MICE , *AUTISM spectrum disorders , *GENE silencing , *KNOCKOUT mice - Abstract
The behavior of offspring results from the combined expression of maternal and paternal genes. Genomic imprinting silences some genes in a parent‐of‐origin specific manner, a process that, among all animals, occurs only in mammals. How genomic imprinting affects the behavior of mammalian offspring, however, remains poorly understood. Here, we studied how the loss of the paternally inherited gene Magel2 in mouse pups affects the emission of separation‐induced ultrasonic vocalizations (USV). Using quantitative analysis of more than 1000 USVs, we characterized the rate of vocalizations as well as their spectral features from postnatal days 6–12 (P6–P12), a critical phase of mouse development that covers the peak of vocal behavior in pups. Our analyses show that Magel2 deficient offspring emit separation‐induced vocalizations at lower rates and with altered spectral features mainly at P8. We also show that dams display altered behavior towards their own Magel2 deficient offspring at this age. In a test to compare the retrieval of two pups, dams retrieve wildtype control pups first and faster than Magel2 deficient offspring. These results suggest that the loss of Magel2 impairs the expression of separation‐induced vocalization in pups as well as maternal behavior at a specific age of postnatal development, both of which support the pups' growth and development. [ABSTRACT FROM AUTHOR]
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- 2022
- Full Text
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17. Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition
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Layla Damen, Stephany H. Donze, Renske J. Kuppens, Nienke E. Bakker, Laura C. G. de Graaff, Janielle A. E. M. van der Velden, and Anita C. S. Hokken-Koelega
- Subjects
Prader Willi syndrome ,Adults ,Body composition ,Growth hormone ,Medicine - Abstract
Abstract Background In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects. This study investigated the effects on body composition in adult patients with PWS during 3 years of growth hormone therapy in a dose of 0.33 mg/m2/day. Methods Open-label, prospective study in 43 young adults with PWS with a median (IQR) age of 19.0 (17.5 to 20.7) years. Fat mass percentage SDS and lean body mass SDS were measured annually by DXA. Results Estimated mean (95% CI) fat mass percentage SDS decreased during the three-year study from 2.1 (1.9 to 2.3) SDS at start to 1.9 (1.8 to 2.1) SDS, p = 0.012, while lean body mass SDS remained stable at − 2.1 (− 2.4 to − 1.8) SDS at start to − 1.9 (− 2.3 to − 1.6) after 3 years, p = 0.15. Fasting glucose and insulin remained similar during the three-year study, glucose being 4.6 (4.4 to 4.8) mmol/l at start and 4.6 (4.5 to 4.7) mmol/l after 3 years of growth hormone, p = 0.93 and insulin being 59.5 (42.2 to 81.5) pmol/l and 55.0 (42.4 to 69.2) pmol/l, resp., p = 0.54. There were no growth hormone-related adverse events during the study. Conclusions Three years of growth hormone treatment in young adults with PWS maintains the positive effects on body composition attained during childhood. Thus, adults with PWS benefit from longer-term growth hormone treatment. Trial registration EudraCT, EudraCT number 2011-001313-14 . Registered 17 October 2012.
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- 2020
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18. A genetic condition that spans both extremes of the nutritional spectrum.
- Author
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Johnson LM
- Abstract
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region, known as the Prader Willi critical region. Nutritional clinical manifestations change with age and are described in four different phases. The phases span both extremes of the nutritional spectrum, beginning with an infant with poor sucking reflexes and failure to thrive then progressing to an adolescent who may have hyperphagia and be at risk for obesity. The phenotype is likely due to hypothalamic dysfunction due to genetic changes in the Prader Willi critical region. Researchers are examining the pathological mechanisms that determine the disease course., Competing Interests: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: LMJ received support for travel and attendance at the AACC Annual Scientific Meeting. No funding was required for this case report., (© 2024 The Author.)
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- 2024
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19. Comparative Study Between Prader-Willi Patients Who Take Oxytocin Versus Placebo
- Published
- 2017
20. Prader-Willi Syndrome Macronutrient Study
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Foundation for Prader-Willi Research
- Published
- 2016
21. Post Exercise Irisin Levels in PWS Patients
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Prof. V. Gross, neuropediateic
- Published
- 2016
22. Anestesia locorregional en una paciente adulta con síndrome de Prader-Willi: consideraciones anestésicas
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Jara Altemir Trallero, José Félix Martínez Juste, and José Antonio Gimeno Orna
- Subjects
Prader Willi syndrome ,anesthetic considerations ,Medicine ,Anesthesiology ,RD78.3-87.3 - Published
- 2019
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23. Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance
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Tayfun Ates, Merve Oncul, Pelin Dilsiz, Iskalen Cansu Topcu, Cihan Civan Civas, Muhammed Ikbal Alp, Iltan Aklan, Edanur Ates Oz, Yavuz Yavuz, Bayram Yilmaz, Nilufer Sayar Atasoy, and Deniz Atasoy
- Subjects
Prader Willi Syndrome ,Autism ,magel2 ,Oxytocin ,AMPA ,NMDA ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
Prader-Willi and the related Schaaf-Yang Syndromes (PWS/SYS) are rare neurodevelopmental disorders characterized by overlapping phenotypes of high incidence of autism spectrum disorders (ASD) and neonatal feeding difficulties. Based on clinical and basic studies, oxytocin pathway defects are suggested to contribute disease pathogenesis but the mechanism has been poorly understood. Specifically, whether the impairment in oxytocin system is limited to neuropeptide levels and how the functional properties of broader oxytocin neuron circuits affected in PWS/SYS have not been addressed. Using cell type specific electrophysiology, we investigated basic synaptic and cell autonomous properties of oxytocin neurons in the absence of MAGEL2; a hypothalamus enriched ubiquitin ligase regulator that is inactivated in both syndromes. We observed significant suppression of overall ex vivo oxytocin neuron activity, which was largely contributed by altered synaptic input profile; with reduced excitatory and increased inhibitory currents. Our results suggest that dysregulation of oxytocin system goes beyond altered neuropeptide expression and synaptic excitation inhibition imbalance impairs overall oxytocin pathway function.
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- 2019
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24. Liraglutide Use in Prader-Willi Syndrome
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Novo Nordisk A/S and David E. Harris, MD, MD, Clinical Endocrinology Fellow, University of British Columbia
- Published
- 2015
25. Dysregulation of the orexin/hypocretin system is not limited to narcolepsy but has far‐reaching implications for neurological disorders.
- Author
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Berteotti, Chiara, Liguori, Claudio, and Pace, Marta
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- *
NEUROLOGICAL disorders , *ALZHEIMER'S disease , *NARCOLEPSY , *SLEEP disorders , *CENTRAL nervous system - Abstract
Neuropeptides orexin A and B (OX‐A/B, also called hypocretin 1 and 2) are released selectively by a population of neurons which projects widely into the entire central nervous system but is localized in a restricted area of the tuberal region of the hypothalamus, caudal to the paraventricular nucleus. The OX system prominently targets brain structures involved in the regulation of wake–sleep state switching, and also orchestrates multiple physiological functions. The degeneration and dysregulation of the OX system promotes narcoleptic phenotypes both in humans and animals. Hence, this review begins with the already proven involvement of OX in narcolepsy, but it mainly discusses the new pre‐clinical and clinical insights of the role of OX in three major neurological disorders characterized by sleep impairment which have been recently associated with OX dysfunction, such as Alzheimer's disease, stroke and Prader Willi syndrome, and have been emerged over the past 10 years to be strongly associated with the OX dysfunction and should be more considered in the future. In the light of the impairment of the OX system in these neurological disorders, it is conceivable to speculate that the integrity of the OX system is necessary for a healthy functioning body. [ABSTRACT FROM AUTHOR]
- Published
- 2021
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26. Macronutrient Regulation of Ghrelin and Peptide YY
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National Institutes of Health (NIH), Canadian Institutes of Health Research (CIHR), Foundation for Prader-Willi Research, Stollery Children's Hospital Foundation, Alberta Diabetes Institute, Sarah W. Stedman Nutrition and Metabolism Center, American Diabetes Association, Duke Children's Miracle Network, and National Center for Research Resources (NCRR)
- Published
- 2015
27. Neurodevelopmental Disorders Commonly Presenting with Sleep Disturbances.
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Shelton, Althea Robinson and Malow, Beth
- Abstract
There are multiple disorders of neurodevelopment that present with co-occurring sleep disturbances. Many of these neurodevelopmental disorders (NDD) include sleep disturbances in their diagnostic criteria. Neurobiological, genetic, and environmental factors overlap to cause different sleep disorders in individuals with NDD. Caregivers often present reporting either insomnia or hypersomnia, and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. It is crucial that clinicians understand the different presentations of sleep disturbances in individuals with NDD. [ABSTRACT FROM AUTHOR]
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- 2021
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28. Apparently rare cases are worth studying because….
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Weese-Mayer, Debra E. and Rand, Casey M.
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- 2023
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29. ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison
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Sarah F. Barclay, Casey M. Rand, Lisa Nguyen, Richard J. A. Wilson, Rachel Wevrick, William T. Gibson, N. Torben Bech-Hansen, and Debra E. Weese-Mayer
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Pediatric obesity ,Autonomic dysfunction ,Hypothalamus ,Hypoventilation ,Genetics ,Prader Willi syndrome ,Medicine - Abstract
Abstract Background Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. We performed an in-depth clinical comparison of the phenotypes of ROHHAD and PWS and used NGS and Sanger sequencing to analyze the coding regions of genes in the PWS region among seven ROHHAD probands. Results Detailed clinical comparison of ROHHAD and PWS patients revealed many important differences between the phenotypes. In particular, we highlight the fact that the areas of apparent overlap (childhood-onset obesity, hypoventilation, autonomic dysfunction) actually differ in fundamental ways, including different forms and severity of hypoventilation, different rates of obesity onset, and different manifestations of autonomic dysfunction. We did not detect any disease-causing mutations within PWS candidate genes in ROHHAD probands. Conclusions ROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS.
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- 2018
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30. Three years of growth hormone treatment in young adults with Prader‐Willi Syndrome previously treated with growth hormone in childhood: Effects on glucose homeostasis and metabolic syndrome.
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Damen, Layla, Grootjen, Lionne N., Donze, Stephany H., Juriaans, Alicia F., Graaff, Laura C. G., Velden, Janielle A.E.M., and Hokken‐Koelega, Anita C. S.
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SOMATOTROPIN , *PRADER-Willi syndrome , *PITUITARY dwarfism , *YOUNG adults , *ACROMEGALY , *TYPE 2 diabetes , *METABOLIC syndrome - Abstract
Context: Growth hormone (GH) has been approved for children with Prader‐Willi syndrome (PWS) and significantly improves body composition in adults with PWS. Adults with PWS are predisposed to develop impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DMT2). Continuation of GH maintains body composition, but GH is known to induce insulin resistance, which might affect glucose homeostasis. Studies on long‐term effects of GH treatment in adults are very limited. Objective: To investigate effects of 3 years of GH treatment on glucose homeostasis and prevalence of metabolic syndrome (MS) in adults with PWS. Design: Open‐label, prospective study. Patients: 43 young adults with PWS. Setting: Dutch PWS Reference Center. Main outcome measures: Glucose and insulin during oral glucose tolerance test. Results: Estimated mean (95% CI) fasting glucose and insulin levels remained stable during 3 years of GH treatment. Glucose being 4.6 (4.4‐4.8) mmol/l at start and 4.7 (4.6‐4.9) mmol/l after 3 years (P =.07); insulin being 59.5 (45.2‐75.8) pmol/l and 56.7 (45.2‐69.6) pmol/l resp. (P =.72). Sex, ethnicity and fat mass percentage were significantly associated with fasting glucose levels, while IGF‐I or GH‐dose were not. Blood pressure, lipids and prevalence of MS remained stable during 3 years of GH. IGT prevalence was variable over time, six patients had IGT at start and eleven after 3 years of GH. One patient developed DMT2. However, prevalence of IGT or DMT2 was not significantly higher after 3 years than at study start. Conclusions: Three years of GH treatment in adults with PWS does not impair glucose homeostasis and does not lead to an increased prevalence of DMT2. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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31. Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition.
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Damen, Layla, Donze, Stephany H., Kuppens, Renske J., Bakker, Nienke E., de Graaff, Laura C. G., van der Velden, Janielle A. E. M., and Hokken-Koelega, Anita C. S.
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PRADER-Willi syndrome , *BODY composition , *YOUNG adults , *LEAN body mass , *HORMONE therapy , *COPEPTINS , *INSULIN aspart , *SOMATOTROPIN - Abstract
Background: In children with Prader-Willi syndrome (PWS), the benefits of growth hormone treatment are well established. Several one-year studies have shown that growth hormone is also beneficial for adults with PWS, improving body composition. However, little is known about the longer-term effects. This study investigated the effects on body composition in adult patients with PWS during 3 years of growth hormone therapy in a dose of 0.33 mg/m2/day.Methods: Open-label, prospective study in 43 young adults with PWS with a median (IQR) age of 19.0 (17.5 to 20.7) years. Fat mass percentage SDS and lean body mass SDS were measured annually by DXA.Results: Estimated mean (95% CI) fat mass percentage SDS decreased during the three-year study from 2.1 (1.9 to 2.3) SDS at start to 1.9 (1.8 to 2.1) SDS, p = 0.012, while lean body mass SDS remained stable at - 2.1 (- 2.4 to - 1.8) SDS at start to - 1.9 (- 2.3 to - 1.6) after 3 years, p = 0.15. Fasting glucose and insulin remained similar during the three-year study, glucose being 4.6 (4.4 to 4.8) mmol/l at start and 4.6 (4.5 to 4.7) mmol/l after 3 years of growth hormone, p = 0.93 and insulin being 59.5 (42.2 to 81.5) pmol/l and 55.0 (42.4 to 69.2) pmol/l, resp., p = 0.54. There were no growth hormone-related adverse events during the study.Conclusions: Three years of growth hormone treatment in young adults with PWS maintains the positive effects on body composition attained during childhood. Thus, adults with PWS benefit from longer-term growth hormone treatment.Trial Registration: EudraCT, EudraCT number 2011-001313-14. Registered 17 October 2012. [ABSTRACT FROM AUTHOR]- Published
- 2020
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32. Monochorionic vs Dichorionic Twins: Kanet Test vs Postnatal Neurodevelopment.
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BOT, Mihaela, VLADAREANU, Radu, BURNEI, Anca, MUNTEANU, Alexandra, CALO, Ioana, and VLADAREANU, Simona
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NEURAL development , *TWINS , *PREGNANT women , *CHILDBIRTH , *FETAL monitoring - Abstract
The twin pregnancy is a risk pregnancy, being associated with a series of fetal and neonatal complications when compared to singleton pregnancies. Ultrasound assessment of the fetal brain is mandatory in the prenatal screening for fetal, congenital and acquired anomalies. Fetal neurosonography is useful in the prenatal diagnosis of cerebral anomalies, combining ultrasonography with fetal ultrasound. In this study, we assessed the Kanet score in two populations of pregnant women with dichorionic twin pregnancies (DC twin) (n=67) and monochorionic twin pregnancies (MC twin) (n=24). In the two groups we included pregnancies with normal fetal growth and pregnancies with discordant fetal growth (DC twin) and selective intrauterine reatriction (MC twin). For both groups, we assessed the antenatal Kanet score during three visits and compared the results with the neurodevelopment immediately after birth up to the two-year-old children. The calculation of the average values of the Kanet score for dichorionic pregnancies revealed normal, maximal average values at all three visits, for all fetuses, no matter if they had normal growth or discordant growth. At the first and third visit, we observed statistically significant differences between the average Kanet scores in DC twins with discordant growth vs. DC twins with normal growth. The analysis of average values of the Kanet score in the group of MC twin pregnancies revealed statistically significant differences between monochorionic twins with discordant growth vs. twins with normal growth at all three visits (p=0.0001), with average values between 17.30 and 19.62 being deemed normal. Amiel-Tison score was used as a standard tool for the neurological assessment both immediately after birth and for children up to two years of age. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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33. Abord sensorimoteur précoce dans le syndrome de Prader Willi (SPW) : intérêt au plan de l'oralité et du développement.
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Jutard, C., Mitanchez, D., and Consoli, A.
- Abstract
L'annonce du diagnostic du syndrome de Prader Willi (SPW), par la description de l'évolution clinique de l'enfant, projette la plupart du temps les familles bien au-delà de la période néonatale. Les caractéristiques retenues telles que le retard de développement psychomoteur et cognitif ou encore l'hyperphagie ont plus de résonance que l'hypotonie sévère et les difficultés de succion présentes à la naissance. Pourtant, ces deux dernières caractéristiques ont des répercussions importantes sur l'organisation sensori-motrice du nourrisson et son développement futur. La construction de la parentalité et des liens affectifs est aussi fragilisée. Cet article détaille la prise en charge d'un nouveau-né hospitalisé dans un service de néonatalogie et pour qui le diagnostic du syndrome Prader Willi a été posé après la naissance. Les travaux d'André Bullinger sur le développement de l'enfant et en particulier sur la période sensori-motrice servent de référentiel théorique et pratique. Grâce à une équipe formée aux soins de soutien au développement sensori-moteur des soins techniques peuvent être proposés, tout en soutenant le développement global de l'enfant. À partir de l'observation du comportement sensori-moteur du nouveau-né, des aménagements et des propositions d'activités sont alors mis en place dès le début de vie afin de prévenir et/ou limiter l'apparition de troubles du développement. En proposant un soutien postural et des sollicitations sensori-motrices, il est possible d'améliorer l'activité spontanée du nourrisson, de favoriser la mise en place de certains schémas moteurs de base ou encore de faciliter la mise en place de l'alimentation active. Les parents sont également très impliqués dans le projet de soins et sont amenés à participer dès que possible. Dès la période néonatale, l'hypotonie et les difficultés alimentaires retrouvées dans le SPW ont de fortes répercussions sur l'activité du bébé, sur les interactions avec les parents et sur la construction des liens d'attachement. L'approche sensori-motrice, les soins de soutien au développement sensori-moteur développés par A. Bullinger, offrent une ouverture et une dynamique qui vont soutenir l'enfant, ses parents et les professionnels. The description of the clinical course of Prader Willy syndrome (PWS) diagnosis often projects families beyond the neonatal time after diagnosis. The characteristics retained such as a delay of psychomotor and cognitive development or the hyperphagia have more resonance than severe hypotonia and sucking difficulties present at the birth. However, these last two characteristics have important consequences on an infant's sensori-motor organization and its future development. Parenting process and emotional bond are also weakened. In this paper, we described the treatment offered to a newborn hospitalized in neonatology department for whom the Prader Willi syndrome diagnosis was made after birth. Andre Bullinger's work on child development and particularly on the sensori-motor period is used as a theoretical and practical frame of reference. We have shown how a trained sensory-motor development support team can provide technical care while supporting the overall development of the child. From the observation of the sensori-motor behavior of the newborn, we set up bodily and posture support and exploration activities from the beginning of life in order to prevent and/or limit the onset of developmental disorders. By proposing a postural support and sensori-motor solicitations it is possible to improve the spontaneous activity of the infant, to support the set-up of specific basic motor patterns and to facilitate the set-up of active feeding. Parents are also very involved in the care project and are invited to take part as soon as possible. Right from the neonatal period, hypotonia and eating disorders found in the PWS have a strong impact on the baby's activity, the interactions with the parents and the construction of attachment. The sensori-motor approach, the sensori-motor development support developed by Bullinger, offers openness and dynamics that will support the child, his parents and professionals. [ABSTRACT FROM AUTHOR]
- Published
- 2019
- Full Text
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34. Family Quality of Life
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Brown, Roy I., Kyrkou, Margaret R., Samuel, Preethy S., Rubin, I. Leslie, editor, Merrick, Joav, editor, Greydanus, Donald E., editor, and Patel, Dilip R., editor
- Published
- 2016
- Full Text
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35. Hypoglycemia in Prader-Willi Syndrome
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Foundation for Prader-Willi Research
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- 2014
36. Family-based Intervention for Youth With Prader-Willi Syndrome: The Active Play at Home Study (APAH)
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University of Florida
- Published
- 2014
37. Cerebellar Dysfunction in Adults with Prader Willi Syndrome
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Laura Blanco-Hinojo, Laia Casamitjana, Jesus Pujol, Gerard Martínez-Vilavella, Susanna Esteba-Castillo, Olga Giménez-Palop, Valentín Freijo, Joan Deus, and Assumpta Caixàs
- Subjects
cerebellum ,fMRI ,motor system ,Prader Willi syndrome ,Medicine - Abstract
Severe hypotonia during infancy is a hallmark feature of Prader Willi syndrome (PWS). Despite its transient expression, moto development is delayed and deficiencies in motor coordination are present at older ages, with no clear pathophysiological mechanism yet identified. The diverse motor coordination symptoms present in adult PWS patients could be, in part, the result of a common alteration(s) in basic motor control systems. We aimed to examine the motor system in PWS using functional MRI (fMRI) during motor challenge. Twenty-three adults with PWS and 22 matched healthy subjects participated in the study. fMRI testing involved three hand motor tasks of different complexity. Additional behavioral measurements of motor function were obtained by evaluating hand grip strength, functional mobility, and balance. Whole brain activation maps were compared between groups and correlated with behavioral measurements. Performance of the motor tasks in PWS engaged the neural elements typically involved in motor processing. While our data showed no group differences in the simplest task, increasing task demands evoked significantly weaker activation in patients in the cerebellum. Significant interaction between group and correlation pattern with measures of motor function were also observed. Our study provides novel insights into the neural substrates of motor control in PWS by demonstrating reduced cerebellar activation during movement coordination.
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- 2021
- Full Text
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38. A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients
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Igor Ribeiro Ferreira, Wilton Darleans dos Santos Cunha, Leonardo Henrique Ferreira Gomes, Hiago Azevedo Cintra, Letícia Lopes Cabral Guimarães Fonseca, Elenice Ferreira Bastos, Juan Clinton Llerena Jr., Zilton Farias Meira de Vasconcelos, and Letícia daCunha Guida
- Subjects
Angelman syndrome ,high‐resolution melting ,MS‐HRM ,MS‐PCR ,Prader Willi syndrome ,Genetics ,QH426-470 - Abstract
Abstract Background Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alterations in paternal allele causes PWS while the absence in maternal allele results AS. The laboratory diagnosis of PWS and AS is complex and demands molecular biology and cytogenetics techniques to identify the genetic mechanism related to the development of the disease. The DNA methylation analysis in chromosome 15 at the SNURF‐SNRPN locus through MS‐PCR confirms the diagnosis and distinguishes between PWS and AS. Our study aimed to establish the MS‐PCR technique associated with High‐Resolution Melting (MS‐HRM) in PWS and AS diagnostic with a single pair of primers. Methods We collected blood samples from 43 suspected patients to a cytogenetic and methylation analysis. The extracted DNA was treated with bisulfite to perform comparative methylation analysis. Results MS‐HRM and MS‐PCR agreed in 100% of cases, identifying 19(44%) PWS, 3(7%) AS, and 21(49%) Normal. FISH analysis detected four cases of PWS caused by deletions in chromosome 15. Conclusion The MS‐HRM showed good performance with a unique pair of primers, dispensing electrophoresis gel analysis, offering a quick and reproducible diagnostic.
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- 2019
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39. Behavioral Treatment of Obsessive-Compulsive Symptoms in Youth With Prader-Willi Syndrome: A Pilot Project
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Johns Hopkins All Children's Hospital and Eric Storch, Ph.D., Associate Professor
- Published
- 2011
40. Characterization of Transcriptional Regulators of Ghrelin Hormone Which Causes Genetic Obesity
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Dong-Kyu Jin
- Published
- 2011
41. Paternal UPD by Chromosome
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Liehr, Thomas and Liehr, Thomas
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- 2014
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42. Genetic Pleiotropies of Obesity
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Kahali, Bratati, Speliotes, Elizabeth K., and Grant, Struan F.A., editor
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- 2014
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43. Prader- Willi syndrome: An uptodate on endocrine and metabolic complications.
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Muscogiuri, Giovanna, Formoso, Gloria, Pugliese, Gabriella, Ruggeri, Rosaria Maddalena, Scarano, Elisabetta, and Colao, Annamaria
- Abstract
Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. It is caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. This genetic disorder has an estimated prevalence that ranges between 1/10,000–1/30,000. Hypothalamic dysfunction is a common finding in PWS and it has been implicated in several manifestations of this syndrome such as hyperphagia, temperature instability, high pain threshold, sleep disordered breathing, and multiple endocrine abnormalities. These include growth hormone deficiency, central adrenal insufficiency, hypogonadism, hypothyroidism, and obesity often complicated by type 2 diabetes. The aim of this manuscript is to overview the current literature on metabolic and endocrine complications of PWS, focusing on human studies and providing insights on the physio pathological mechanisms. A careful management of metabolic and endocrine complications can contribute to improve quality of life, prevent complications, and prolong life expectancy of PW patients. [ABSTRACT FROM AUTHOR]
- Published
- 2019
- Full Text
- View/download PDF
44. Inactivation of Magel2 suppresses oxytocin neurons through synaptic excitation-inhibition imbalance.
- Author
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Ates, Tayfun, Oncul, Merve, Dilsiz, Pelin, Topcu, Iskalen Cansu, Civas, Cihan Civan, Alp, Muhammed Ikbal, Aklan, Iltan, Ates Oz, Edanur, Yavuz, Yavuz, Yilmaz, Bayram, Sayar Atasoy, Nilufer, and Atasoy, Deniz
- Subjects
- *
OXYTOCIN , *NEURONS , *AUTISM spectrum disorders , *ELECTROPHYSIOLOGY , *UBIQUITIN ligases - Abstract
Abstract Prader-Willi and the related Schaaf-Yang Syndromes (PWS/SYS) are rare neurodevelopmental disorders characterized by overlapping phenotypes of high incidence of autism spectrum disorders (ASD) and neonatal feeding difficulties. Based on clinical and basic studies, oxytocin pathway defects are suggested to contribute disease pathogenesis but the mechanism has been poorly understood. Specifically, whether the impairment in oxytocin system is limited to neuropeptide levels and how the functional properties of broader oxytocin neuron circuits affected in PWS/SYS have not been addressed. Using cell type specific electrophysiology, we investigated basic synaptic and cell autonomous properties of oxytocin neurons in the absence of MAGEL2; a hypothalamus enriched ubiquitin ligase regulator that is inactivated in both syndromes. We observed significant suppression of overall ex vivo oxytocin neuron activity, which was largely contributed by altered synaptic input profile; with reduced excitatory and increased inhibitory currents. Our results suggest that dysregulation of oxytocin system goes beyond altered neuropeptide expression and synaptic excitation inhibition imbalance impairs overall oxytocin pathway function. Highlights • Loss of Prader-Willi syndrome gene- Magel2 suppresses activity of oxytocin neurons. • Magel2 deficient oxytocin neurons have normal basic membrane properties. • Loss of Magel2 alters excitatory/inhibitory synaptic balance onto oxytocin neurons. • Magel2 mutant oxytocin neurons have selective loss of AMPA but normal NMDA currents. [ABSTRACT FROM AUTHOR]
- Published
- 2019
- Full Text
- View/download PDF
45. Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
- Published
- 2007
46. Duplex Methylation-Specific Semi-Quantitative Real-Time PCR for Cost-Effective & Time-Efficient Diagnostic Screening of Chromosome 15 and 14 Imprinted Regions
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Ruszova E, Chmelarova M, Senkerikova M, and Stefackova S
- Subjects
prader willi syndrome ,angelman syndrome ,methyl-specific semi-quantitative real-time pcr ,epigenetics ,Medicine - Abstract
Purpose: Our goal was to develop two-tier strategy based on in house-designed methylation specific-duplex polymerase chain reactions (MS-PCRs) that could serve as a relatively simple, cost effective, time efficient approach for molecular screening of imprinted regions on chromosomes 15 and 14.
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- 2015
- Full Text
- View/download PDF
47. Hypophysis and Hypothalamus
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Bessou, Pierre, Hanquinet, Sylviane, Chateil, Jean-François, and Avni, Fred, editor
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- 2012
- Full Text
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48. Imprinting Disorders of Early Childhood
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Temple, I. Karen, Clayton-Smith, Jill, Mackay, Deborah J. G., and Michels, Karin B., editor
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- 2012
- Full Text
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49. Clinical Algorithms
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Rosen, Dennis, Lang, Jason E., Colin, Andrew A., and Cleveland, Robert H., editor
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- 2012
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50. The Genetics of Autism
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Sokol, Deborah K., Lahiri, Debomoy K., Matson, Johnny L., editor, and Sturmey, Peter, editor
- Published
- 2011
- Full Text
- View/download PDF
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