Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health

Jessica Warnink-Kavelaars; Lisanne E.  de Koning; Lies Rombaut; Leonie A.  Menke; Mattijs W.  Alsem; Hedy A.  van Oers; Annemieke I.  Buizer; Raoul H. H.  Engelbert; Jaap Oosterlaan; Pediatric Heritable Connective Tissue Disorder study group

doi:10.1002/ajmg.a.62750

Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health

Jessica Warnink-Kavelaars, Lisanne E. de Koning, Lies Rombaut, Leonie A. Menke, Mattijs W. Alsem, Hedy A. van Oers, Annemieke I. Buizer, Raoul H. H. Engelbert, Jaap Oosterlaan, Pediatric Heritable Connective Tissue Disorder study group

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Abstract

The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4–18 years, with Marfan syndrome (MFS, n = 74), Loeys–Dietz syndrome (n = 8), molecular confirmed Ehlers–Danlos syndromes (n = 15), and hypermobile Ehlers–Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child-reported Child Health Questionnaires (CHQ-PF50 and CHQ-CF45, respectively) and the parent-reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent-reported HRQoL of the HCTD-group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child-reported HRQoL. The parent-reported mental health of the HCTD-group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS- and hEDS-subgroups both reported decreased HRQoL, only the hEDS-subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.

Original language	English
Pages (from-to)	2096-2109
Journal	American Journal of Medical Genetics - Part A
Volume	188
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.62750
Publication status	Published - Jul 2022

Funding

We thank the parents, children, and adolescents who participated in this study. We are grateful to SIA RAAK‐PRO, part of the Dutch Organization for Scientific Research, for funding this project (NWO; SVB.RAAK>PRO02.007), which is part of a 5‐year research grant of the project “Follow You—a follow‐up program on physical, psychosocial functioning and participation in children and adolescents with (Heritable) Connective Tissue Disorders.” We thank the Clinical Research Unit Amsterdam UMC and Dr. H. Maurice‐Stam for their statistical advise. We also acknowledge the members of the Pediatric Heritable Connective Tissue Disorders study group: Marieke J. H. Baars Rosa de Boer, Eelco Dulfer, Yvonne Hilhorst‐Hofstee, Marlies J. E. Kempers, Ingrid P. C. Krapels, Bart L. Loeys, R. van der Looven, Fransiska Malfait, Laura Muino Mosquera, Annelies E. van der Hulst, Marion A. J. van Rossum, and Femke Stoelinga as well as the Dutch Network Marfan and related disorders, the European Reference Network Skin—Mendelian Connective Tissue Disorders and both the Marfan and Ehlers–Danlos patient associations for the productive discussions. , We thank the parents, children, and adolescents who participated in this study. We are grateful to SIA RAAK-PRO, part of the Dutch Organization for Scientific Research, for funding this project (NWO; SVB.RAAK>PRO02.007), which is part of a 5-year research grant of the project “Follow You—a follow-up program on physical, psychosocial functioning and participation in children and adolescents with (Heritable) Connective Tissue Disorders.” We thank the Clinical Research Unit Amsterdam UMC and Dr. H. Maurice-Stam for their statistical advise. We also acknowledge the members of the Pediatric Heritable Connective Tissue Disorders study group: Marieke J. H. Baars, Rosa de Boer, Eelco Dulfer, Yvonne Hilhorst-Hofstee, Marlies J. E. Kempers, Ingrid P. C. Krapels, Bart L. Loeys, R. van der Looven, Fransiska Malfait, Laura Muino Mosquera, Annelies E. van der Hulst, Marion A. J. van Rossum, and Femke Stoelinga as well as the Dutch Network Marfan and related disorders, the European Reference Network Skin—Mendelian Connective Tissue Disorders and both the Marfan and Ehlers–Danlos patient associations for the productive discussions.

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American J of Med Genetics Pt A - 2022 - Warnink‐Kavelaars - Heritable connective tissue disorders in childhood DecreasedFinal published version, 1.6 MBLicence: CC BY-NC-ND

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Warnink-Kavelaars, J., de Koning, L. E., Rombaut, L., Menke, L. A., Alsem, M. W., van Oers, H. A., Buizer, A. I., Engelbert, R. H. H., Oosterlaan, J., & Pediatric Heritable Connective Tissue Disorder study group (2022). Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health. American Journal of Medical Genetics - Part A, 188(7), 2096-2109. https://doi.org/10.1002/ajmg.a.62750

@article{d4322d567ea246f394e8be8e1db3559f,

title = "Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health",

abstract = "The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4–18 years, with Marfan syndrome (MFS, n = 74), Loeys–Dietz syndrome (n = 8), molecular confirmed Ehlers–Danlos syndromes (n = 15), and hypermobile Ehlers–Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child-reported Child Health Questionnaires (CHQ-PF50 and CHQ-CF45, respectively) and the parent-reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent-reported HRQoL of the HCTD-group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child-reported HRQoL. The parent-reported mental health of the HCTD-group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS- and hEDS-subgroups both reported decreased HRQoL, only the hEDS-subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.",

keywords = "Adolescent, Connective Tissue, Connective Tissue Diseases/genetics, Ehlers-Danlos Syndrome/genetics, Female, Humans, Joint Instability, Male, Marfan Syndrome/genetics, Mental Health, Quality of Life, Skin Abnormalities",

author = "Jessica Warnink-Kavelaars and {de Koning}, {Lisanne E.} and Lies Rombaut and Menke, {Leonie A.} and Alsem, {Mattijs W.} and {van Oers}, {Hedy A.} and Buizer, {Annemieke I.} and Engelbert, {Raoul H. H.} and Jaap Oosterlaan and {Pediatric Heritable Connective Tissue Disorder study group}",

note = "A complete list of the Pediatric Heritable Connective Tissue Study Group members appears in the Acknowledgements. Funding information: SIA RAAK-PRO, Dutch Organization for Scientific Research (NWO), Grant/Award Number: SVB.RAAK>PRO02.007. ",

year = "2022",

month = jul,

doi = "10.1002/ajmg.a.62750",

language = "English",

volume = "188",

pages = "2096--2109",

journal = "American Journal of Medical Genetics - Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

number = "7",

}

Warnink-Kavelaars, J, de Koning, LE, Rombaut, L, Menke, LA, Alsem, MW, van Oers, HA, Buizer, AI, Engelbert, RHH, Oosterlaan, J & Pediatric Heritable Connective Tissue Disorder study group 2022, 'Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health', American Journal of Medical Genetics - Part A, vol. 188, no. 7, pp. 2096-2109. https://doi.org/10.1002/ajmg.a.62750

TY - JOUR

T1 - Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health

AU - Warnink-Kavelaars, Jessica

AU - de Koning, Lisanne E.

AU - Rombaut, Lies

AU - Menke, Leonie A.

AU - Alsem, Mattijs W.

AU - van Oers, Hedy A.

AU - Buizer, Annemieke I.

AU - Engelbert, Raoul H. H.

AU - Oosterlaan, Jaap

AU - Pediatric Heritable Connective Tissue Disorder study group

N1 - A complete list of the Pediatric Heritable Connective Tissue Study Group members appears in the Acknowledgements. Funding information: SIA RAAK-PRO, Dutch Organization for Scientific Research (NWO), Grant/Award Number: SVB.RAAK>PRO02.007.

PY - 2022/7

Y1 - 2022/7

N2 - The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4–18 years, with Marfan syndrome (MFS, n = 74), Loeys–Dietz syndrome (n = 8), molecular confirmed Ehlers–Danlos syndromes (n = 15), and hypermobile Ehlers–Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child-reported Child Health Questionnaires (CHQ-PF50 and CHQ-CF45, respectively) and the parent-reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent-reported HRQoL of the HCTD-group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child-reported HRQoL. The parent-reported mental health of the HCTD-group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS- and hEDS-subgroups both reported decreased HRQoL, only the hEDS-subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.

AB - The psychosocial consequences of growing up with Heritable Connective Tissue Disorders (HCTD) are largely unknown. We aimed to assess Health-Related Quality of Life (HRQoL) and mental health of children and adolescents with HCTD. This observational multicenter study included 126 children, aged 4–18 years, with Marfan syndrome (MFS, n = 74), Loeys–Dietz syndrome (n = 8), molecular confirmed Ehlers–Danlos syndromes (n = 15), and hypermobile Ehlers–Danlos syndrome (hEDS, n = 29). HRQoL and mental health were assessed through the parent and child-reported Child Health Questionnaires (CHQ-PF50 and CHQ-CF45, respectively) and the parent-reported Strengths and Difficulties Questionnaire. Compared with a representative general population sample, parent-reported HRQoL of the HCTD-group showed significantly decreased Physical sum scores (p < 0.001, d = 0.9) and Psychosocial sum scores (p = 0.024, d = 0.2), indicating decreased HRQoL. Similar findings were obtained for child-reported HRQoL. The parent-reported mental health of the HCTD-group showed significantly increased Total difficulties sum scores (p = 0.01, d = 0.3), indicating decreased mental health. While the male and female MFS- and hEDS-subgroups both reported decreased HRQoL, only the hEDS-subgroup reported decreased mental health. In conclusion, children and adolescents with HCTD report decreased HRQoL and mental health, with most adverse outcomes reported in children with hEDS and least in those with MFS. These findings call for systematic monitoring and tailored interventions.

KW - Adolescent

KW - Connective Tissue

KW - Connective Tissue Diseases/genetics

KW - Ehlers-Danlos Syndrome/genetics

KW - Female

KW - Humans

KW - Joint Instability

KW - Male

KW - Marfan Syndrome/genetics

KW - Mental Health

KW - Quality of Life

KW - Skin Abnormalities

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U2 - 10.1002/ajmg.a.62750

DO - 10.1002/ajmg.a.62750

M3 - Article

C2 - 35393672

SN - 1552-4825

VL - 188

SP - 2096

EP - 2109

JO - American Journal of Medical Genetics - Part A

JF - American Journal of Medical Genetics - Part A

IS - 7

ER -

Heritable connective tissue disorders in childhood: Decreased health-related quality of life and mental health

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