Skip to main content
Top
Gepubliceerd in: Journal of Autism and Developmental Disorders 3/2020

14-11-2019 | Brief Report

Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome

Auteurs: Sarah E. Fitzpatrick, Lauren M. Schmitt, Ryan Adams, Ernest V. Pedapati, Logan K. Wink, Rebecca C. Shaffer, Jessica Sage, Jayne Dixon Weber, Kelli C. Dominick, Craig A. Erickson

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2020

Log in om toegang te krijgen
share
DELEN

Deel dit onderdeel of sectie (kopieer de link)

  • Optie A:
    Klik op de rechtermuisknop op de link en selecteer de optie “linkadres kopiëren”
  • Optie B:
    Deel de link per e-mail

Abstract

To date, health related quality of life (QoL) has not been systematically evaluated in youth with fragile X syndrome (FXS), the most common single gene cause of autism and the most common inherited form of developmental disability. We describe QoL data gathered using the Pediatric Quality of Life Inventory (PedsQL) completed online by 364 parents of youth with FXS. Parents consistently reported across all gender and age groups that their children experienced the highest QoL in Physical functioning and the lowest QoL in Cognitive functioning. Overall, older children with FXS had increase QoL ratings in the domains of School and Cognitive function.
Literatuur
go back to reference Abbeduto, L., Seltzer, M. M., Shattuck, P., Krauss, M. W., Orsmond, G., & Murphy, M. M. (2004). Psychological well-being and coping in mothers of youths with autism, down syndrome, orfragile X syndrome. American Journal on Mental Retardation,109(3), 237–254.CrossRef Abbeduto, L., Seltzer, M. M., Shattuck, P., Krauss, M. W., Orsmond, G., & Murphy, M. M. (2004). Psychological well-being and coping in mothers of youths with autism, down syndrome, orfragile X syndrome. American Journal on Mental Retardation,109(3), 237–254.CrossRef
go back to reference Alonso, E. M., & Sorensen, L. G. (2009). Cognitive development following pediatric solid organ transplantation. Current Opinion in Organ Transplantation,14(5), 522–525.PubMedCrossRef Alonso, E. M., & Sorensen, L. G. (2009). Cognitive development following pediatric solid organ transplantation. Current Opinion in Organ Transplantation,14(5), 522–525.PubMedCrossRef
go back to reference Aman, M. G., Burrow, W. H., & Wolford, P. L. (1995). The Aberrant Behavior Checklist-Community: Factor validity and effect of subject variables for adults in group homes. American Journal on Mental Retardation,100(3), 283–292.PubMed Aman, M. G., Burrow, W. H., & Wolford, P. L. (1995). The Aberrant Behavior Checklist-Community: Factor validity and effect of subject variables for adults in group homes. American Journal on Mental Retardation,100(3), 283–292.PubMed
go back to reference Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012). Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics. The Journal of Clinical Investigation,122(12), 4314–4322.PubMedPubMedCentralCrossRef Bagni, C., Tassone, F., Neri, G., & Hagerman, R. (2012). Fragile X syndrome: Causes, diagnosis, mechanisms, and therapeutics. The Journal of Clinical Investigation,122(12), 4314–4322.PubMedPubMedCentralCrossRef
go back to reference Barker, E. T., Hartley, S. L., Seltzer, M. M., Floyd, F. J., Greenberg, J. S., & Orsmond, G. I. (2011). Trajectories of emotional well-being in mothers of adolescents and adults with autism. Developmental Psychology,47(2), 551.PubMedPubMedCentralCrossRef Barker, E. T., Hartley, S. L., Seltzer, M. M., Floyd, F. J., Greenberg, J. S., & Orsmond, G. I. (2011). Trajectories of emotional well-being in mothers of adolescents and adults with autism. Developmental Psychology,47(2), 551.PubMedPubMedCentralCrossRef
go back to reference Berry-Kravis, E. (2015). A 6-week, randomized, multicenter, double-blind, parallel, flexed-and fixed-dose study of MDX (Metadoxine Extended-release; MG01CI) Compared with Placebo in Adolescents and Adults with Fragile X Syndrome. In 62nd Annual Meeting, 2015: AACAP. Berry-Kravis, E. (2015). A 6-week, randomized, multicenter, double-blind, parallel, flexed-and fixed-dose study of MDX (Metadoxine Extended-release; MG01CI) Compared with Placebo in Adolescents and Adults with Fragile X Syndrome. In 62nd Annual Meeting, 2015: AACAP.
go back to reference Berry-Kravis, E. M., Lindemann, L., Jønch, A. E., Apostol, G., Bear, M. F., Carpenter, R. L., et al. (2017). Drug development for neurodevelopmental disorders: Lessons learned from fragile X syndrome. Nature Reviews Drug Discovery,17(4), 280.PubMedPubMedCentralCrossRef Berry-Kravis, E. M., Lindemann, L., Jønch, A. E., Apostol, G., Bear, M. F., Carpenter, R. L., et al. (2017). Drug development for neurodevelopmental disorders: Lessons learned from fragile X syndrome. Nature Reviews Drug Discovery,17(4), 280.PubMedPubMedCentralCrossRef
go back to reference Chevreul, K., Berg Brigham, K., Brunn, M., & Portes, V. (2015). Fragile X syndrome: Economic burden and health-related quality of life of patients and caregivers in France. Journal of Intellectual Disability Research,59(12), 1108–1120.PubMedCrossRef Chevreul, K., Berg Brigham, K., Brunn, M., & Portes, V. (2015). Fragile X syndrome: Economic burden and health-related quality of life of patients and caregivers in France. Journal of Intellectual Disability Research,59(12), 1108–1120.PubMedCrossRef
go back to reference Cummins, R. A. (2005). Moving from the quality of life concept to a theory. Journal of Intellectual Disability Research,49(10), 699–706.PubMedCrossRef Cummins, R. A. (2005). Moving from the quality of life concept to a theory. Journal of Intellectual Disability Research,49(10), 699–706.PubMedCrossRef
go back to reference DaWalt, L. S., Usher, L. V., Greenberg, J. S., & Mailick, M. R. (2017). Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism. Autism,23(2), 383–393.PubMedCrossRef DaWalt, L. S., Usher, L. V., Greenberg, J. S., & Mailick, M. R. (2017). Friendships and social participation as markers of quality of life of adolescents and adults with fragile X syndrome and autism. Autism,23(2), 383–393.PubMedCrossRef
go back to reference Erickson, C. A., Davenport, M. H., Schaefer, T. L., Wink, L. K., Pedapati, E. V., Sweeney, J. A., et al. (2017). Fragile X targeted pharmacotherapy: Lessons learned and future directions. Journal of Neurodevelopmental Disorders,9(1), 7.PubMedPubMedCentralCrossRef Erickson, C. A., Davenport, M. H., Schaefer, T. L., Wink, L. K., Pedapati, E. V., Sweeney, J. A., et al. (2017). Fragile X targeted pharmacotherapy: Lessons learned and future directions. Journal of Neurodevelopmental Disorders,9(1), 7.PubMedPubMedCentralCrossRef
go back to reference Esbensen, A. J., Rojahn, J., Aman, M. G., & Ruedrich, S. (2003). Reliability and validity of an assessment instrument for anxiety, depression, and mood among individuals with mental retardation. Journal of Autism and Developmental Disorders,33(6), 617–629.CrossRef Esbensen, A. J., Rojahn, J., Aman, M. G., & Ruedrich, S. (2003). Reliability and validity of an assessment instrument for anxiety, depression, and mood among individuals with mental retardation. Journal of Autism and Developmental Disorders,33(6), 617–629.CrossRef
go back to reference Fitzgerald, M., Birkbeck, G., & Matthews, P. (2002). Maternal burden in families with children with autistic spectrum disorder. The Irish Journal of Psychology,33, 17. Fitzgerald, M., Birkbeck, G., & Matthews, P. (2002). Maternal burden in families with children with autistic spectrum disorder. The Irish Journal of Psychology,33, 17.
go back to reference Gray, D. E. (2002). Ten years on: A longitudinal study of families of children with autism. Journal of Intellectual and Developmental Disability,27(3), 215–222.CrossRef Gray, D. E. (2002). Ten years on: A longitudinal study of families of children with autism. Journal of Intellectual and Developmental Disability,27(3), 215–222.CrossRef
go back to reference Hess, L. G., Fitzpatrick, S. E., Nguyen, D. V., Chen, Y., Gaul, K. N., Schneider, A., et al. (2016). A randomized, double-blind, placebo-controlled trial of low-dose sertraline in young children with Fragile X Syndrome. Journal of Developmental and Behavioral Pediatrics,37(8), 619.PubMedCentralCrossRef Hess, L. G., Fitzpatrick, S. E., Nguyen, D. V., Chen, Y., Gaul, K. N., Schneider, A., et al. (2016). A randomized, double-blind, placebo-controlled trial of low-dose sertraline in young children with Fragile X Syndrome. Journal of Developmental and Behavioral Pediatrics,37(8), 619.PubMedCentralCrossRef
go back to reference Hsieh, R. L., Hsueh, Y. M., Huang, H. Y., Lin, M. I., Tseng, W. C., & Lee, W. C. (2013). Quality of life and impact of children with unclassified developmental delays. Journal of Paediatrics and Child Health,49(2), E116–E121.PubMedCrossRef Hsieh, R. L., Hsueh, Y. M., Huang, H. Y., Lin, M. I., Tseng, W. C., & Lee, W. C. (2013). Quality of life and impact of children with unclassified developmental delays. Journal of Paediatrics and Child Health,49(2), E116–E121.PubMedCrossRef
go back to reference Ikeda, E., Hinckson, E., & Krägeloh, C. (2014). Assessment of quality of life in children and youth with autism spectrum disorder: A critical review. Quality of Life Research,23(4), 1069–1085.PubMedCrossRef Ikeda, E., Hinckson, E., & Krägeloh, C. (2014). Assessment of quality of life in children and youth with autism spectrum disorder: A critical review. Quality of Life Research,23(4), 1069–1085.PubMedCrossRef
go back to reference Jacquemont, S., Curie, A., Des Portes, V., Torrioli, M. G., Berry-Kravis, E., Hagerman, R. J., et al. (2011). Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Science Translational Medicine,3(64ra61), 64ra61. Jacquemont, S., Curie, A., Des Portes, V., Torrioli, M. G., Berry-Kravis, E., Hagerman, R. J., et al. (2011). Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Science Translational Medicine,3(64ra61), 64ra61.
go back to reference Kamp-Becker, I., Schröder, J., Remschmidt, H., & Bachmann, C. J. (2010). Health-related quality of life in adolescents and young adults with high functioning autism-spectrum disorder. GMS Psycho-Social-Medicine,7, 1–10. Kamp-Becker, I., Schröder, J., Remschmidt, H., & Bachmann, C. J. (2010). Health-related quality of life in adolescents and young adults with high functioning autism-spectrum disorder. GMS Psycho-Social-Medicine,7, 1–10.
go back to reference Kuhlthau, K., Orlich, F., Hall, T. A., Sikora, D., Kovacs, E. A., Delahaye, J., et al. (2010). Health-related quality of life in children with autism spectrum disorders: Results from the autism treatment network. Journal of Autism and Developmental Disorders,40(6), 721–729.PubMedCrossRef Kuhlthau, K., Orlich, F., Hall, T. A., Sikora, D., Kovacs, E. A., Delahaye, J., et al. (2010). Health-related quality of life in children with autism spectrum disorders: Results from the autism treatment network. Journal of Autism and Developmental Disorders,40(6), 721–729.PubMedCrossRef
go back to reference Lewis, P., Abbeduto, L., Murphy, M., Richmond, E., Giles, N., Bruno, L., et al. (2006). Psychological well-being of mothers of youth with fragile X syndrome: Syndrome specificity and within-syndrome variability. Journal of Intellectual Disability Research,50(12), 894–904.CrossRef Lewis, P., Abbeduto, L., Murphy, M., Richmond, E., Giles, N., Bruno, L., et al. (2006). Psychological well-being of mothers of youth with fragile X syndrome: Syndrome specificity and within-syndrome variability. Journal of Intellectual Disability Research,50(12), 894–904.CrossRef
go back to reference Limbers, C. A., Heffer, R. W., & Varni, J. W. (2009). Health-related quality of life and cognitive functioning from the perspective of parents of school-aged children with Asperger’s Syndrome utilizing the PedsQL™. Journal of Autism and Developmental Disorders,39(11), 1529–1541.PubMedCrossRef Limbers, C. A., Heffer, R. W., & Varni, J. W. (2009). Health-related quality of life and cognitive functioning from the perspective of parents of school-aged children with Asperger’s Syndrome utilizing the PedsQL™. Journal of Autism and Developmental Disorders,39(11), 1529–1541.PubMedCrossRef
go back to reference Lounds, J., Seltzer, M. M., Greenberg, J. S., & Shattuck, P. T. (2007). Transition and change in adolescents and young adults with autism: Longitudinal effects on maternal well-being. American Journal on Mental Retardation,112(6), 401–417.PubMedCrossRef Lounds, J., Seltzer, M. M., Greenberg, J. S., & Shattuck, P. T. (2007). Transition and change in adolescents and young adults with autism: Longitudinal effects on maternal well-being. American Journal on Mental Retardation,112(6), 401–417.PubMedCrossRef
go back to reference Mullen, E. M. (1995). Mullen scales of early learning. Circle Pines, MN: AGS. Mullen, E. M. (1995). Mullen scales of early learning. Circle Pines, MN: AGS.
go back to reference Pappas, D. (2006). ADHD Rating Scale-IV: Checklists, norms, and clinical interpretation. Journal of Psychoeducational Assessment,24(2), 172–178.CrossRef Pappas, D. (2006). ADHD Rating Scale-IV: Checklists, norms, and clinical interpretation. Journal of Psychoeducational Assessment,24(2), 172–178.CrossRef
go back to reference Pieretti, M., Zhang, F. P., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell,66(4), 817–822.PubMedCrossRef Pieretti, M., Zhang, F. P., Fu, Y. H., Warren, S. T., Oostra, B. A., Caskey, C. T., et al. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell,66(4), 817–822.PubMedCrossRef
go back to reference Schalock, R. L., Brown, I., Brown, R., Cummins, R. A., Felce, D., Matikka, L., et al. (2002). Conceptualization, measurement, and application of quality of life for persons with intellectual disabilities: Report of an international panel of experts. Mental Retardation,40(6), 457–470.PubMedCrossRef Schalock, R. L., Brown, I., Brown, R., Cummins, R. A., Felce, D., Matikka, L., et al. (2002). Conceptualization, measurement, and application of quality of life for persons with intellectual disabilities: Report of an international panel of experts. Mental Retardation,40(6), 457–470.PubMedCrossRef
go back to reference Sparrow, S. S., & Cicchetti, D. V. (1985). Diagnostic uses of the Vineland Adaptive Behavior Scales. Journal of Pediatric Psychology,10(2), 215–225.PubMedCrossRef Sparrow, S. S., & Cicchetti, D. V. (1985). Diagnostic uses of the Vineland Adaptive Behavior Scales. Journal of Pediatric Psychology,10(2), 215–225.PubMedCrossRef
go back to reference Varni, J. W., Burwinkle, T. M., & Lane, M. M. (2005). Health-related quality of life measurement in pediatric clinical practice: An appraisal and precept for future research and application. Health and Quality of Life Outcomes,3(1), 1.CrossRef Varni, J. W., Burwinkle, T. M., & Lane, M. M. (2005). Health-related quality of life measurement in pediatric clinical practice: An appraisal and precept for future research and application. Health and Quality of Life Outcomes,3(1), 1.CrossRef
go back to reference Varni, J. W., Limbers, C., & Burwinkle, T. M. (2007a). Literature review: Health-related quality of life measurement in pediatric oncology: Hearing the voices of the children. Journal of Pediatric Psychology,32(9), 1151–1163.PubMedCrossRef Varni, J. W., Limbers, C., & Burwinkle, T. M. (2007a). Literature review: Health-related quality of life measurement in pediatric oncology: Hearing the voices of the children. Journal of Pediatric Psychology,32(9), 1151–1163.PubMedCrossRef
go back to reference Varni, J. W., Limbers, C. A., & Burwinkle, T. M. (2007b). Parent proxy-report of their children’s health-related quality of life: An analysis of 13,878 parents’ reliability and validity across age subgroups using the PedsQL™ 4.0 Generic Core Scales. Health and Quality of Life Outcomes,5(1), 1.PubMedPubMedCentralCrossRef Varni, J. W., Limbers, C. A., & Burwinkle, T. M. (2007b). Parent proxy-report of their children’s health-related quality of life: An analysis of 13,878 parents’ reliability and validity across age subgroups using the PedsQL™ 4.0 Generic Core Scales. Health and Quality of Life Outcomes,5(1), 1.PubMedPubMedCentralCrossRef
go back to reference Varni, J. W., Seid, M., & Kurtin, P. S. (2001a). PedsQL 4.0: Reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Medical Care,39(8), 800–812.PubMedCrossRef Varni, J. W., Seid, M., & Kurtin, P. S. (2001a). PedsQL 4.0: Reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Medical Care,39(8), 800–812.PubMedCrossRef
go back to reference Varni, J. W., Seid, M., & Kurtin, P. S. (2001b). PedsQL™ 4.0: Reliability and validity of the Pediatric Quality of Life Inventory™ Version 4.0 Generic Core Scales in healthy and patient populations. Medical Care,39(8), 800–812.PubMedCrossRef Varni, J. W., Seid, M., & Kurtin, P. S. (2001b). PedsQL™ 4.0: Reliability and validity of the Pediatric Quality of Life Inventory™ Version 4.0 Generic Core Scales in healthy and patient populations. Medical Care,39(8), 800–812.PubMedCrossRef
go back to reference Varni, J. W., Seid, M., & Rode, C. A. (1999a). The PedsQL: Measurement model for the pediatric quality of life inventory. Medical Care,37(2), 126–139.PubMedCrossRef Varni, J. W., Seid, M., & Rode, C. A. (1999a). The PedsQL: Measurement model for the pediatric quality of life inventory. Medical Care,37(2), 126–139.PubMedCrossRef
go back to reference Varni, J. W., Seid, M., & Rode, C. A. (1999b). The PedsQL™: Measurement model for the pediatric quality of life inventory. Medical Care,37(2), 126–139.PubMedCrossRef Varni, J. W., Seid, M., & Rode, C. A. (1999b). The PedsQL™: Measurement model for the pediatric quality of life inventory. Medical Care,37(2), 126–139.PubMedCrossRef
go back to reference Varni, J. W., Seid, M., Smith Knight, T., Burwinkle, T., Brown, J., & Szer, I. S. (2002). The PedsQL in pediatric rheumatology: Reliability, validity, and responsiveness of the Pediatric Quality of Life Inventory Generic Core Scales and Rheumatology Module. Arthritis and Rheumatism,46(3), 714–725.PubMedCrossRef Varni, J. W., Seid, M., Smith Knight, T., Burwinkle, T., Brown, J., & Szer, I. S. (2002). The PedsQL in pediatric rheumatology: Reliability, validity, and responsiveness of the Pediatric Quality of Life Inventory Generic Core Scales and Rheumatology Module. Arthritis and Rheumatism,46(3), 714–725.PubMedCrossRef
go back to reference Varni, J. W., Sherman, S. A., Burwinkle, T. M., Dickinson, P. E., & Dixon, P. (2004). The PedsQL™ family impact module: Preliminary reliability and validity. Health and Quality of Life Outcomes,2(1), 55.PubMedPubMedCentralCrossRef Varni, J. W., Sherman, S. A., Burwinkle, T. M., Dickinson, P. E., & Dixon, P. (2004). The PedsQL™ family impact module: Preliminary reliability and validity. Health and Quality of Life Outcomes,2(1), 55.PubMedPubMedCentralCrossRef
go back to reference Wheeler, A. C., Skinner, D. G., & Bailey, D. B. (2008a). Perceived quality of life in mothers of children with fragile X syndrome. American Journal on Mental Retardation,113(3), 159–177.PubMedCrossRef Wheeler, A. C., Skinner, D. G., & Bailey, D. B. (2008a). Perceived quality of life in mothers of children with fragile X syndrome. American Journal on Mental Retardation,113(3), 159–177.PubMedCrossRef
go back to reference Wheeler, A. C., Skinner, D. G., & Bailey, D. B. (2008b). Perceived quality of life in mothers of children with fragile X syndrome. American Journal of Mental Retardation,113(3), 159–177.PubMedCrossRef Wheeler, A. C., Skinner, D. G., & Bailey, D. B. (2008b). Perceived quality of life in mothers of children with fragile X syndrome. American Journal of Mental Retardation,113(3), 159–177.PubMedCrossRef
Metagegevens
Titel
Pediatric Quality of Life Inventory (PedsQL) in Fragile X Syndrome
Auteurs
Sarah E. Fitzpatrick
Lauren M. Schmitt
Ryan Adams
Ernest V. Pedapati
Logan K. Wink
Rebecca C. Shaffer
Jessica Sage
Jayne Dixon Weber
Kelli C. Dominick
Craig A. Erickson
Publicatiedatum
14-11-2019
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 3/2020
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-019-04292-7

Andere artikelen Uitgave 3/2020

Journal of Autism and Developmental Disorders 3/2020 Naar de uitgave