A retrospective study of eating and psychosocial problems in patients with hepatic glycogen storage diseases and idiopathic ketotic hypoglycemia: Towards a standard set of patient‐reported outcome measures
Annieke Venema,
Fabian Peeks,
Marlies deBruijn‐van der Veen,
Foekje deBoer,
Marieke J. Fokkert‐Wilts,
Charlotte M. A. Lubout,
Bibi Huskens,
Eric Dumont,
Sandra Mulkens,
Terry G. J. Derks
Affiliations
Annieke Venema
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Fabian Peeks
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Marlies deBruijn‐van der Veen
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Foekje deBoer
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Marieke J. Fokkert‐Wilts
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Charlotte M. A. Lubout
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Bibi Huskens
SeysCentra, Center for Paediatric Eating Problems and Incontinence Malden The Netherlands
Eric Dumont
SeysCentra, Center for Paediatric Eating Problems and Incontinence Malden The Netherlands
Sandra Mulkens
SeysCentra, Center for Paediatric Eating Problems and Incontinence Malden The Netherlands
Terry G. J. Derks
Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Centre Groningen University of Groningen Groningen The Netherlands
Abstract There is a paucity in literature on eating and psychosocial problems in patients with hepatic glycogen storage disease (GSD) and idiopathic ketotic hypoglycemia (IKH), problems that can greatly affect quality of life. This is a monocentre, retrospective, observational mixed method study of patients with hepatic GSD or IKH treated at the Beatrix Children's Hospital Groningen, who had been referred to SeysCentra, a specialist centre for the treatment of eating problems. Additionally, a systematic literature review has been performed to identify instruments to quantify patient‐reported outcome measures of psychosocial problems in hepatic GSD patients. Sixteen patients from 12 families were included with ages ranging between 3 and 24 years. Five out of sixteen patients were diagnosed with Avoidant/Restrictive Food Intake Disorder and six patients showed characteristics of this disorder. Fourteen patients experienced sleeping problems, and 11 out of 12 parent couples experienced stress about the illness of their child. We subsequently identified 26 instruments to quantify patient‐reported outcome measures for GSD patients. This study demonstrates that GSD patients can develop Avoidant/Restrictive Food Intake Disorder influencing quality of life at multiple domains. The identification of instruments to assess psychosocial wellbeing is an important step towards a standard set of patient‐reported outcome measures.
