Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs

Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to address HCH-related short stature, which can adversely affect quality of life. This study aime...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Molecular genetics & genomic medicine Jg. 13; H. 11; S. e70151 - n/a
Hauptverfasser: Oehrlein, Elisabeth M., Pekala, Reni, Cavallaro, Stacie, Cho, Margaret, Crews, Chandler, Dauber, Andrew, Saxena, Ankita, Vandigo, Joe, Reese, Emily S.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: United States John Wiley & Sons, Inc 01.11.2025
Wiley
Schlagworte:
Adolescent
Adult
Bone and Bones - abnormalities
Bone dysplasia
Caregivers
Caregivers - psychology
Cartilage - abnormalities
Child
Child, Preschool
Children
Children & youth
Convulsions & seizures
Data collection
Dwarfism - diagnosis
Dwarfism - psychology
Dwarfism - therapy
Endocrine therapy
Epilepsy
Families & family life
Female
Focus groups
Growth hormones
Hearing loss
Humans
Hypochondroplasia
Interviews
Learning
Learning disabilities
Limb Deformities, Congenital - diagnosis
Limb Deformities, Congenital - psychology
Limb Deformities, Congenital - therapy
Lordosis - diagnosis
Lordosis - psychology
Lordosis - therapy
Male
Parents & parenting
patient‐centered research
patient‐focused drug development
Pregnancy
Qualitative research
Quality of Life
Seizures
skeletal dysplasia
Skeleton
Sleep apnea
Surgery
Young Adult
Young adults
patient‐centered research
patient‐focused drug development
qualitative research
hypochondroplasia
skeletal dysplasia
ISSN:2324-9269, 2324-9269
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to address HCH-related short stature, which can adversely affect quality of life. This study aimed to explore diagnostic processes, care pathways, daily life impacts, and unmet needs in HCH. Ninety-minute interviews were conducted with nine children and young adults and 25 caregivers who had physician-confirmed HCH. Participants discussed diagnostic journeys, treatment considerations, and day-to-day challenges. Following interviews, two 90-min focus groups among caregivers (n = 10) were conducted to explore themes emerging during interviews. We found that diagnostic pathways vary significantly, with signs of HCH identified in utero or during infancy or early childhood. Families described complex psychosocial burdens that include impacts on daily activities and emotional challenges due to height differences and disproportionate limb length. Additionally, many people with HCH have complications that go beyond short stature and include developmental delays, learning differences, and seizures. Families desire more support and resources related to HCH. Future efforts should focus on holistic, patient-centered strategies to better support individuals with HCH and their families.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ISSN:2324-9269
2324-9269
DOI:10.1002/mgg3.70151