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• W3010135593 abstract "Abstract This study examined the health‐related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1). Thirty‐two (17 pediatric, 15 young adult) patients with GD1 and one parent completed age‐appropriate assessments of HRQoL, emotional, and behavioral health. The HRQoL of children with GD1 was compared with a healthy sample and to children diagnosed with Fabry disease (FD; another lysosomal storage disease), while young adults were compared to a healthy sample and to patients with self‐reported chronic illnesses. Children with GD1 reported significantly lower HRQoL across all domains relative to healthy counterparts yet comparable HRQoL compared to children with FD. Young adults reported mildly lower physical functioning than healthy peers, but no differences in HRQoL relative to the chronic illness sample. Parent‐reported symptom severity was associated with poorer HRQOL in children but not young adults. Few group differences in psychological functioning were observed, except young children showed more school problems than the normative average and there was a trend toward internalizing symptoms. Overall, results consistently identified younger patients with GD1 as more affected than older patients in HRQoL and psychological domains. Implementation of psychosocial interventions may be particularly beneficial during early childhood." @default.
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• W3010135593 date "2020-03-03" @default.
• W3010135593 modified "2023-10-16" @default.
• W3010135593 title "Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1" @default.
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• W3010135593 doi "https://doi.org/10.1002/ajmg.a.61533" @default.
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