1040 recherche sur le mot-clé 'Prader-Willi-syndrome'

Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age / Elisabeth M. DYKENS in Journal of Child Psychology and Psychiatry, 49-9 (September 2008)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 49-9 (September 2008) . - p.1001-1008 Titre : Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age Type de document : texte imprimé Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur Année de publication : 2008 Article en page(s) : p.1001-1008 Langues : Anglais (eng) Mots-clés : Prader-Willi-syndrome genetic-subtypes age CYFIP1 Index. décimale : PER Périodiques Résumé : Background: Some behavioral features of Prader-Willi syndrome (PWS) are associated with the major genetic subtypes of this disorder. While most agree that those with maternal uniparental disomy (UPD) have a distinctive cognitive and psychiatric profile, findings are more controversial regarding possible differences among persons who vary in paternal deletion size. Methods: Caregivers of 88 persons with PWS aged 5 to 51 years (M = 22 years) were administered measures of problem behavior, compulsivity, hyperphagia, and adaptive skills. The sample was well characterized as having relatively large, Type I (n = 26) or smaller, Type II (n = 29) deletions, or UPD (n = 33). Results: No significant behavioral differences were found between the Type I versus Type II deletion groups. Within each genetic subtype, however, differences emerged in how advancing age related to behavior. Although age did not emerge as a significant correlate of behavior in the Type II or UPD groups, in the Type I group age was consistently associated with lower problem behaviors, adaptive skills, and externalizing symptoms. Conclusion: Although differences between deletion subtypes were not found, significant within-subtype differences emerged in relationships between age and behavior. Negative associations between age and behavior in the Type I group only may relate to non-imprinted genes that are deleted in Type I but not Type II cases, including CYFIP1. Altered expression of CYFIP1 is seen in other developmental disabilities, including 15q disorders, and haploinsufficiency of CYFIP1 in Type I PWS cases may be associated with age-related phenotypic effects. Findings underscore the importance of a life-span perspective in phenotypic research. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01913.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 [article] Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age [texte imprimé] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur . - 2008 . - p.1001-1008. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 49-9 (September 2008) . - p.1001-1008 Mots-clés : Prader-Willi-syndrome genetic-subtypes age CYFIP1 Index. décimale : PER Périodiques Résumé : Background: Some behavioral features of Prader-Willi syndrome (PWS) are associated with the major genetic subtypes of this disorder. While most agree that those with maternal uniparental disomy (UPD) have a distinctive cognitive and psychiatric profile, findings are more controversial regarding possible differences among persons who vary in paternal deletion size. Methods: Caregivers of 88 persons with PWS aged 5 to 51 years (M = 22 years) were administered measures of problem behavior, compulsivity, hyperphagia, and adaptive skills. The sample was well characterized as having relatively large, Type I (n = 26) or smaller, Type II (n = 29) deletions, or UPD (n = 33). Results: No significant behavioral differences were found between the Type I versus Type II deletion groups. Within each genetic subtype, however, differences emerged in how advancing age related to behavior. Although age did not emerge as a significant correlate of behavior in the Type II or UPD groups, in the Type I group age was consistently associated with lower problem behaviors, adaptive skills, and externalizing symptoms. Conclusion: Although differences between deletion subtypes were not found, significant within-subtype differences emerged in relationships between age and behavior. Negative associations between age and behavior in the Type I group only may relate to non-imprinted genes that are deleted in Type I but not Type II cases, including CYFIP1. Altered expression of CYFIP1 is seen in other developmental disabilities, including 15q disorders, and haploinsufficiency of CYFIP1 in Type I PWS cases may be associated with age-related phenotypic effects. Findings underscore the importance of a life-span perspective in phenotypic research. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2008.01913.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559

Behavioral and Emotional Symptoms of Children and Adolescents with Prader-Willi Syndrome / Linda A. REDDY in Journal of Autism and Developmental Disorders, 37-5 (May 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-5 (May 2007) . - p.830-839 Titre : Behavioral and Emotional Symptoms of Children and Adolescents with Prader-Willi Syndrome Type de document : texte imprimé Auteurs : Linda A. REDDY, Auteur ; Steven I. PFEIFFER, Auteur Année de publication : 2007 Article en page(s) : p.830-839 Langues : Anglais (eng) Mots-clés : Prader-Willi-Syndrome Behavioral-and-emotional-symptoms Index. décimale : PER Périodiques Résumé : To examine the behavioral and emotional difficulties of 73 children and adolescents with Prader-Willi Syndrome (PWS), mental retardation-only, and dual diagnosis (i.e., mental retardation and psychiatrically disordered) on the Devereux Scales of Mental Disorders (DSMD: Naglieri, LeBuffe, & Pfeiffer, Devereux Scales of Mental Disorders (DSMD) San Antonio, TX: PsychCorp 1994). Multivariate analyses and "Italic">d-ratios were computed to assess the statistical and clinically meaningful differences between pairs of samples. The PWS sample exhibited statistically significant higher levels of psychopathology than the mentally-retarded-only sample on the Total, Externalizing, Internalizing, Attention/Delinquency, Conduct, Anxiety, and Acute Problems Scales. When compared to the dually-diagnosed sample, children with PWS Syndrome had comparable levels of psychopathology, but lower levels of depression. Results revealed that PWS represents a highly unique and complex psychological disorder with multiple areas of disturbances. En ligne : http://dx.doi.org/10.1007/s10803-006-0210-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139 [article] Behavioral and Emotional Symptoms of Children and Adolescents with Prader-Willi Syndrome [texte imprimé] / Linda A. REDDY, Auteur ; Steven I. PFEIFFER, Auteur . - 2007 . - p.830-839. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-5 (May 2007) . - p.830-839 Mots-clés : Prader-Willi-Syndrome Behavioral-and-emotional-symptoms Index. décimale : PER Périodiques Résumé : To examine the behavioral and emotional difficulties of 73 children and adolescents with Prader-Willi Syndrome (PWS), mental retardation-only, and dual diagnosis (i.e., mental retardation and psychiatrically disordered) on the Devereux Scales of Mental Disorders (DSMD: Naglieri, LeBuffe, & Pfeiffer, Devereux Scales of Mental Disorders (DSMD) San Antonio, TX: PsychCorp 1994). Multivariate analyses and "Italic">d-ratios were computed to assess the statistical and clinically meaningful differences between pairs of samples. The PWS sample exhibited statistically significant higher levels of psychopathology than the mentally-retarded-only sample on the Total, Externalizing, Internalizing, Attention/Delinquency, Conduct, Anxiety, and Acute Problems Scales. When compared to the dually-diagnosed sample, children with PWS Syndrome had comparable levels of psychopathology, but lower levels of depression. Results revealed that PWS represents a highly unique and complex psychological disorder with multiple areas of disturbances. En ligne : http://dx.doi.org/10.1007/s10803-006-0210-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=139

Food-related Neural Circuitry in Prader-Willi Syndrome: Response to High- Versus Low-calorie Foods / Anastasia DIMITROPOULOS in Journal of Autism and Developmental Disorders, 38-9 (October 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-9 (October 2008) . - p.1642-1653 Titre : Food-related Neural Circuitry in Prader-Willi Syndrome: Response to High- Versus Low-calorie Foods Type de document : texte imprimé Auteurs : Anastasia DIMITROPOULOS, Auteur ; Robert T. SCHULTZ, Auteur Année de publication : 2008 Article en page(s) : p.1642-1653 Langues : Anglais (eng) Mots-clés : Prader-Willi-syndrome fMRI Hypothalamus Food-related Genetic Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hyperphagia and food preoccupations. Although dysfunction of the hypothalamus likely has a critical role in hyperphagia, it is only one of several regions involved in the regulation of eating. The purpose of this research was to examine food-related neural circuitry using functional magnetic resonance imaging in individuals with PWS and matched controls. Individuals with PWS showed increased activation in neural circuitry known to mediate hunger and motivation (hypothalamus, OFC) in response to high- versus low-calorie foods and in comparison to controls. This suggests neural circuitry for PWS is abnormally activated during hunger, particularly for high-calorie foods, and may mediate abnormally strong hunger states, therefore playing a significant role in PWS-induced hyperphagia. En ligne : http://dx.doi.org/10.1007/s10803-008-0546-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=604 [article] Food-related Neural Circuitry in Prader-Willi Syndrome: Response to High- Versus Low-calorie Foods [texte imprimé] / Anastasia DIMITROPOULOS, Auteur ; Robert T. SCHULTZ, Auteur . - 2008 . - p.1642-1653. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-9 (October 2008) . - p.1642-1653 Mots-clés : Prader-Willi-syndrome fMRI Hypothalamus Food-related Genetic Index. décimale : PER Périodiques Résumé : Prader-Willi syndrome (PWS) is a neurodevelopmental disorder characterized by hyperphagia and food preoccupations. Although dysfunction of the hypothalamus likely has a critical role in hyperphagia, it is only one of several regions involved in the regulation of eating. The purpose of this research was to examine food-related neural circuitry using functional magnetic resonance imaging in individuals with PWS and matched controls. Individuals with PWS showed increased activation in neural circuitry known to mediate hunger and motivation (hypothalamus, OFC) in response to high- versus low-calorie foods and in comparison to controls. This suggests neural circuitry for PWS is abnormally activated during hunger, particularly for high-calorie foods, and may mediate abnormally strong hunger states, therefore playing a significant role in PWS-induced hyperphagia. En ligne : http://dx.doi.org/10.1007/s10803-008-0546-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=604

Age of diagnosis for children with chromosome 15q syndromes / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 15 (2023)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 15 (2023) Titre : Age of diagnosis for children with chromosome 15q syndromes Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur Langues : Anglais (eng) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575 [article] Age of diagnosis for children with chromosome 15q syndromes [texte imprimé] / Anne C. WHEELER, Auteur ; Marie G. GANTZ, Auteur ; Heidi COPE, Auteur ; Theresa V. STRONG, Auteur ; Jessica E. BOHONOWYCH, Auteur ; Amanda MOORE, Auteur ; Vanessa VOGEL-FARLEY, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 15 (2023) Mots-clés : Humans  Child  Infant  Prader-Willi Syndrome/diagnosis/genetics  Chromosome Disorders/diagnosis/genetics  Chromosomes  Angelman Syndrome/diagnosis/genetics  Trisomy Index. décimale : PER Périodiques Résumé : OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year. Comparison tests were run to explore group differences. RESULTS: The median age of diagnosis was 1.8 years for both AS and Dup15q. PWS was diagnosed significantly younger at a median age of 1 month. Deletion subtypes for both PWS and AS were diagnosed earlier than nondeletion subtypes, and children with isodicentric duplications in Dup15q were diagnosed earlier than those with interstitial duplications. CONCLUSION: Understanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. En ligne : https://dx.doi.org/10.1186/s11689-023-09504-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=575

Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome / Akvile LUKOSHE in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.12 Titre : Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome Type de document : texte imprimé Auteurs : Akvile LUKOSHE, Auteur ; Suzanne E. VAN DIJK, Auteur ; Gerbrich E. VAN DEN BOSCH, Auteur ; Aad VAN DER LUGT, Auteur ; Tiffany C. WHITE, Auteur ; Anita C. HOKKEN-KOELEGA, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Mots-clés : 15q11-q13  Functional resting-state connectivity  Hypothalamus  Neurodevelopmental disorders  Pituitary gland  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS. METHODS: Twenty-seven children with PWS (13 DEL, 14 mUPD) and 28 typically developing children were included. Manual segmentations by a blinded investigator were performed to determine the volumes of the hypothalamus, mammillary bodies, and pituitary gland. In addition, brain-wide functional connectivity analysis was performed using the obtained masks of the hypothalamus. RESULTS: Children with PWS showed altered resting state functional connectivity between hypothalamus and right and left lateral occipital complex, compared to healthy controls. In addition, children with PWS had on average a 50% smaller pituitary volume, an irregular shape of the pituitary, and a longer pituitary stalk. Pituitary volume did not increase in volume during puberty in PWS. No volumetric differences in the hypothalamus and mammillary bodies were found. In all subjects, the posterior pituitary bright spot was observed. CONCLUSIONS: We report altered functional hypothalamic connectivity with lateral occipital complexes in both hemispheres, which are implicated in response to food and reward system, and absence of connectivity might therefore at least partially contribute to the preoccupation with food in PWS. En ligne : http://dx.doi.org/10.1186/s11689-017-9188-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome [texte imprimé] / Akvile LUKOSHE, Auteur ; Suzanne E. VAN DIJK, Auteur ; Gerbrich E. VAN DEN BOSCH, Auteur ; Aad VAN DER LUGT, Auteur ; Tiffany C. WHITE, Auteur ; Anita C. HOKKEN-KOELEGA, Auteur . - p.12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.12 Mots-clés : 15q11-q13  Functional resting-state connectivity  Hypothalamus  Neurodevelopmental disorders  Pituitary gland  Prader-Willi syndrome Index. décimale : PER Périodiques Résumé : BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS. METHODS: Twenty-seven children with PWS (13 DEL, 14 mUPD) and 28 typically developing children were included. Manual segmentations by a blinded investigator were performed to determine the volumes of the hypothalamus, mammillary bodies, and pituitary gland. In addition, brain-wide functional connectivity analysis was performed using the obtained masks of the hypothalamus. RESULTS: Children with PWS showed altered resting state functional connectivity between hypothalamus and right and left lateral occipital complex, compared to healthy controls. In addition, children with PWS had on average a 50% smaller pituitary volume, an irregular shape of the pituitary, and a longer pituitary stalk. Pituitary volume did not increase in volume during puberty in PWS. No volumetric differences in the hypothalamus and mammillary bodies were found. In all subjects, the posterior pituitary bright spot was observed. CONCLUSIONS: We report altered functional hypothalamic connectivity with lateral occipital complexes in both hemispheres, which are implicated in response to food and reward system, and absence of connectivity might therefore at least partially contribute to the preoccupation with food in PWS. En ligne : http://dx.doi.org/10.1186/s11689-017-9188-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

Assessment of Pretend Play in Prader–Willi Syndrome: A Direct Comparison to Autism Spectrum Disorder / Olena ZYGA in Journal of Autism and Developmental Disorders, 45-4 (April 2015)  

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Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study / Jessica MACKAY in Journal of Autism and Developmental Disorders, 52-9 (September 2022)  

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Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study / Theresa V. STRONG in Journal of Neurodevelopmental Disorders, 16 (2024)  

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Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium / Lauren SCHWARTZ in Journal of Neurodevelopmental Disorders, 13 (2021)  

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Brief Report: Challenging Behaviors in Toddlers and Preschoolers with Angelman, Prader-Willi, and Williams Syndromes / Wei Siong NEO in Journal of Autism and Developmental Disorders, 49-4 (April 2019)  

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