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 et/ou numérique 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 et/ou numérique] / 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

Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome / Elisabeth M. DYKENS in Journal of Child Psychology and Psychiatry, 58-1 (January 2017)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 58-1 (January 2017) . - p.64-74 Titre : Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur Article en page(s) : p.64-74 Langues : Anglais (eng) Mots-clés : Prader-Willi syndrome  growth hormone treatment  cognition  adaptive behavior Index. décimale : PER Périodiques Résumé : Background People with Prader-Willi syndrome (PWS) typically have mild to moderate intellectual deficits, compulsivity, hyperphagia, obesity, and growth hormone deficiencies. Growth hormone treatment (GHT) in PWS has well-established salutatory effects on linear growth and body composition, yet cognitive benefits of GHT, seen in other patient groups, have not been well studied in PWS. Methods Study 1 included 96 children and youth with PWS aged 4–21 years who naturalistically varied in their exposures to GHT. Controlling for socioeconomic status, analyses compared cognitive and adaptive behavior test scores across age-matched treatment naïve versus growth hormone treated children. Study II assessed if age of treatment initiation or treatment duration was associated with subsequent cognition or adaptive behavior in 127, 4- to 21-year olds with PWS. Study III longitudinally examined cognitive and adaptive behavior in 168 participants who were either consistently on versus off GHT for up to 4–5 years. Results Compared to the treatment naïve group, children receiving GHT had significantly higher Verbal and Composite IQs, and adaptive communication and daily living skills. Children who began treatment before 12 months of age had higher Nonverbal and Composite IQs than children who began treatment between 1 and 5 years of age. Longitudinally, the groups differed in their intercepts, but not slopes, with each group showing stable IQ and adaptive behavior scores over time. Conclusions Cognitive and adaptive advantages should be considered an ancillary benefit and additional justification for GHT in people with PWS. Future efforts need to target apparent socioeconomic inequities in accessing GHT in the PWS population. En ligne : http://dx.doi.org/10.1111/jcpp.12601 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=298 [article] Cognitive and adaptive advantages of growth hormone treatment in children with Prader-Willi syndrome [Texte imprimé et/ou numérique] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Hailee HUNT-HAWKINS, Auteur . - p.64-74. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 58-1 (January 2017) . - p.64-74 Mots-clés : Prader-Willi syndrome  growth hormone treatment  cognition  adaptive behavior Index. décimale : PER Périodiques Résumé : Background People with Prader-Willi syndrome (PWS) typically have mild to moderate intellectual deficits, compulsivity, hyperphagia, obesity, and growth hormone deficiencies. Growth hormone treatment (GHT) in PWS has well-established salutatory effects on linear growth and body composition, yet cognitive benefits of GHT, seen in other patient groups, have not been well studied in PWS. Methods Study 1 included 96 children and youth with PWS aged 4–21 years who naturalistically varied in their exposures to GHT. Controlling for socioeconomic status, analyses compared cognitive and adaptive behavior test scores across age-matched treatment naïve versus growth hormone treated children. Study II assessed if age of treatment initiation or treatment duration was associated with subsequent cognition or adaptive behavior in 127, 4- to 21-year olds with PWS. Study III longitudinally examined cognitive and adaptive behavior in 168 participants who were either consistently on versus off GHT for up to 4–5 years. Results Compared to the treatment naïve group, children receiving GHT had significantly higher Verbal and Composite IQs, and adaptive communication and daily living skills. Children who began treatment before 12 months of age had higher Nonverbal and Composite IQs than children who began treatment between 1 and 5 years of age. Longitudinally, the groups differed in their intercepts, but not slopes, with each group showing stable IQ and adaptive behavior scores over time. Conclusions Cognitive and adaptive advantages should be considered an ancillary benefit and additional justification for GHT in people with PWS. Future efforts need to target apparent socioeconomic inequities in accessing GHT in the PWS population. En ligne : http://dx.doi.org/10.1111/jcpp.12601 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=298

TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome / Elisabeth M. DYKENS in Journal of Child Psychology and Psychiatry, 52-5 (May 2011)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 52-5 (May 2011) . - p.580-587 Titre : TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Douglas BITTEL, Auteur ; Merlin G. BUTLER, Auteur Année de publication : 2011 Article en page(s) : p.580-587 Langues : Anglais (eng) Mots-clés : Behavior problems  genetics  intelligence  internalizing disorder  neurochemistry  Prader–Willi syndrome Index. décimale : PER Périodiques Résumé : Background:  Prader–Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of serotonin in the brain. Methods:  Ninety-two individuals with PWS aged 4 to 50 years (M = 21.97) were genotyped for the TPH2 G703-T polymorphism. IQ testing was conducted in offspring, and parents completed questionnaires that tapped their child’s compulsivity, hyperphagia, and other behavior problems. Results:  As expected, the frequency of G/T or T/T polymorphisms in participants with PWS (39%) was similar to rates found in the general population (38%). Compared to those with a homozygous (G/G) genotype, individuals with a T allele had significantly higher hyperphagic behavior, drive, and severity scores, and they also had a younger age of onset of hyperphagia. Those with a T allele also had higher IQ scores than their counterparts. Females with a T allele had significantly higher internalizing symptoms, primarily anxiety and depression, than all others. Conclusions:  TPH2 G/T polymorphisms, and presumed loss of enzyme function, were associated with specific aspects of the PWS phenotype. Aberrant serotonergic functioning is strongly implicated in hyperphagia in PWS, and females with TPH2 T alleles may be at higher risk for affective or mood disorders. Findings hold promise for examining other serotonin-altering genes in PWS, and for future serotonin-altering treatment trials. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02365.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121 [article] TPH2 G/T polymorphism is associated with hyperphagia, IQ, and internalizing problems in Prader–Willi syndrome [Texte imprimé et/ou numérique] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur ; Douglas BITTEL, Auteur ; Merlin G. BUTLER, Auteur . - 2011 . - p.580-587. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 52-5 (May 2011) . - p.580-587 Mots-clés : Behavior problems  genetics  intelligence  internalizing disorder  neurochemistry  Prader–Willi syndrome Index. décimale : PER Périodiques Résumé : Background:  Prader–Willi syndrome (PWS) is a genetic, neurodevelopmental disorder characterized by intellectual disabilities, growth hormone dysregulation, hyperphagia, increased risks of morbid obesity, compulsive behaviors, and irritability. As aberrant serotonergic functioning is strongly implicated in PWS, we examined associations between the PWS phenotype and polymorphisms in tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of serotonin in the brain. Methods:  Ninety-two individuals with PWS aged 4 to 50 years (M = 21.97) were genotyped for the TPH2 G703-T polymorphism. IQ testing was conducted in offspring, and parents completed questionnaires that tapped their child’s compulsivity, hyperphagia, and other behavior problems. Results:  As expected, the frequency of G/T or T/T polymorphisms in participants with PWS (39%) was similar to rates found in the general population (38%). Compared to those with a homozygous (G/G) genotype, individuals with a T allele had significantly higher hyperphagic behavior, drive, and severity scores, and they also had a younger age of onset of hyperphagia. Those with a T allele also had higher IQ scores than their counterparts. Females with a T allele had significantly higher internalizing symptoms, primarily anxiety and depression, than all others. Conclusions:  TPH2 G/T polymorphisms, and presumed loss of enzyme function, were associated with specific aspects of the PWS phenotype. Aberrant serotonergic functioning is strongly implicated in hyperphagia in PWS, and females with TPH2 T alleles may be at higher risk for affective or mood disorders. Findings hold promise for examining other serotonin-altering genes in PWS, and for future serotonin-altering treatment trials. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2011.02365.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=121

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