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

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.

Glycogen storage disease type 1a in the Ohio Amish

“…GSD associated feeding difficulties are being increasingly recognized. 38 , 39 , 40 Oral aversion was reported in 47% of our patients, which is similar to findings from Martinez et al who found that 30% of patients with GSD had oral aversion, compared to of 0.25% in the general population. 39 , 41 All patients who started cornstarch within 2 months of birth, who had been diagnosed by cord blood developed oral aversion.…”

What do we know about the epidemiology of avoidant/restrictive food intake disorder in children and adolescents? A systematic review of the literature

“…One study took place in the Middle East (Iron‐Segev et al., 2022) and six in East Asian countries: four in Japan (Dinkler et al., 2022a, 2022b; Seike et al., 2016a, 2016b), one in Taiwan (Chen et al., 2020) and one in Singapore (Wong et al., 2022). The majority ( n = 21) of studies focussed on clinical populations (Bertrand et al., 2021; Cooney et al., 2018; Eddy et al., 2015; Farag et al., 2022; Fisher et al., 2014, 2015; Forman et al., 2014; Goldberg et al., 2020; Katzman et al., 2021; Koomar et al., 2021; Krom et al., 2019; Murray et al., 2022; Nicely et al., 2014; Norris et al., 2014; Nygren et al., 2021; Ornstein et al., 2013; Pinhas et al., 2017; Schöffel et al., 2021; Venema et al., 2022; Williams et al., 2015; Wong et al., 2022) with many drawing on samples from adolescent eating disorders services or feeding clinics ( n = 11) (Cooney et al., 2018; Farag et al., 2022; Fisher et al., 2014, 2015; Forman et al., 2014; Krom et al., 2019; Nicely et al., 2014; Norris et al., 2014; Ornstein et al., 2013; Williams et al., 2015; Wong et al., 2022) and utilising retrospective chart review methodology ( n = 13) (Cooney et al., 2018; Eddy et al., 2015; Fisher et al., 2014; Krom et al., 2019; Murray et al., 2022; Nicely et al., 2014; Norris et al., 2014; Nygren et al., 2021; Ornstein et al., 2013; Schöffel et al., 2021; Venema et al., 2022; Williams et al., 2015; Wong et al., 2022). All studies were cross‐sectional in design and ARFID diagnosis used the DSM‐5 or instrum...…”

Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

“…Eating disorders in children and adults with GSDIa [64,76] and the psychosocial impact of the disease in adults [77] have been reviewed. Additionally, parents/caregivers of children with GSDIa experience greater stress and distress versus parents/caregivers of children without a chronic disease [41].…”

“…Individuals may experience fear, anxiety and stress associated with missed doses of UCCS and the potential consequences, as well as concerns regarding physical appearance (e.g., due to growth retardation, weight gain or body shape) [64,79]. Weight gain has been highlighted by patients as another of the most frustrating aspects of the disease [62], and patients are at risk of developing eating disorders, such as avoidant/restrictive food intake disorder [64,76]. A large proportion of daily calories are obtained from UCCS, which may affect appetite, and chronic use of continuous overnight enteral feeding has been associated with eating disorders and anorexia.…”