Psychosocial Functioning in Youth with Glycogen Storage Disease Type I

Storch, Eric A.; Keeley, Mary L.; Merlo, Lisa J.; Jacob, Marni L.; Correia, Catherine E.; Weinstein, David A.

doi:10.1093/jpepsy/jsn017

Cited by 39 publications

(47 citation statements)

References 38 publications

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“…Compared to the study published by Storch and colleagues, describing a lower QoL in several areas and summary measures in youth GSD I patients (Storch et al 2008), we found generally better results for adult patients, with the summary measures for physical and mental components being within the normal range. This difference between adults and children can have different interpretations.…”

Section: Discussioncontrasting

confidence: 85%

“…In GSD I, QoL can be impacted by the disease and its complications, by the strict diet regimen and the eventual medications, and by the medical procedures needed in a comprehensive follow-up, such as blood samples, ultrasounds, magnetic resonances, and bone densitometry. A reduced QoL has been previously demonstrated in children affected by GSD Ia and Ib (Storch et al 2008).…”

Section: Introductionmentioning

confidence: 75%

“…Investigating QoL is important to discover possible shortfalls in the management of patients, especially those with a chronic disease that is likely to have a long-term impact on all aspects of everyday life. Nevertheless, to our knowledge, this is the first study investigating QoL among adult patients with GSD I since this aspect was investigated only in children so far (Storch et al 2008). Social outcome (including interpersonal relationships, education, and professional carrier) is strictly linked with QoL, and it has been previously demonstrated that in inborn errors of metabolism impaired QoL can be associated with an altered social structure in comparison to healthy peers (Simon et al 2008).…”

Section: Discussionmentioning

confidence: 94%

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Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

et al. 2013

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Background: Glycogen storage disease type I (GSD I) is a chronic metabolic disease that requires a lifelong strict dietetic treatment to avoid hypoglycemia and can lead to severe complications during adult age. Impaired quality of life (QoL) has been reported in affected children, but this aspect has not been previously investigated in adults.Objective: To assess QoL in adult patients with GSD I. Patients and Methods: Italian patients with GSD type Ia and Ib, who were 16 years or older, were asked to complete the SF-36 questionnaire, assessing their QoL. Data on demographic characteristics and clinical history were collected from clinical records and interviews.Results: Thirty-eight patients (22 females, 16 males; 27 with GSD Ia, 11 with GSD Ib, median age 26.5 years) completed the SF-36 questionnaire. Overall, when compared to normal values, patients with GSD I had lower median scores in general health perception and social functioning, but better median scores for bodily pain and mental health. Patients with GSD Ib had a lower Z-score than GSD Ia patients for emotional health problems. Male patients showed better Z-scores in physical functioning, general health perception, and social functioning when compared to females. Emotional health problems Z-score was lower in nephropathic patients.Conclusion: QoL can be impaired in adult patients with GSD I. The results of this study show that patients with GSD type Ib, women, and those with renal complications are more likely to experience a poorer QoL.

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Section: Discussioncontrasting

confidence: 85%

Section: Introductionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 94%

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Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

et al. 2013

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“…Since the middle-of-the-night dose of cornstarch is avoided, fewer episodes of overnight hypoglycemia may result and should improve compliance in teenagers and young adults who historically have struggled with transitioning to independence (Storch et al 2008). While the therapy appears to be safer than traditional cornstarch, administration of the product is critical, and missed therapy can have dire consequences as occurred with the death of a 13-year-old young man followed as part of this study.…”

Section: Discussionmentioning

confidence: 97%

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

et al. 2015

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Background: Glycogen storage disease type I (GSD I) causes severe hypoglycemia during periods of fasting since both glycogenolysis and gluconeogenesis are impaired. Primary treatment in North America consists of cornstarch therapy every 3-4 h. Waxy maize extended release cornstarch was introduced for maintaining overnight glucose concentrations, but no studies have assessed longterm safety and efficacy of the product.Objective: To demonstrate the safety and efficacy of modified cornstarch in GSD I.Design: An open-label overnight trial of extended release cornstarch was performed. Subjects with a successful trial (optimal metabolic control 2 or more hours longer than with traditional cornstarch) were given the option of continuing into the chronic observational phase. Subjects were assessed biochemically at baseline and after 12 months.Results: Of the 106 subjects (93 GSD Ia/13 GSD Ib), efficacy was demonstrated in 82 patients (88%) with GSD Ia and 10 patients (77%) with GSD Ib. The success rate for extending fasting was 95% for females and 78% for males. Of the patients who entered the longitudinal phase, longterm data are available for 44 subjects.

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“…One notable study of GSD Ia and Ib patients found that they reported decreased quality of life (QOL) related to physical health, psychosocial health, and social functioning compared to the general population (Storch et al 2008). Yet, it remains unknown what aspect(s) of GSD might negatively impact well-being.…”

Section: Introductionmentioning

confidence: 99%

Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease

et al. 2014

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Glycogen storage disease (GSD) is an inherited disorder that requires a complex medical regimen to maintain appropriate metabolic control. Previous research has suggested the disease is associated with decreased quality of life, and clinical experience suggests that patients are at risk for disordered eating behaviors that may significantly compromise their health. The current study assessed eating attitudes, eating disorder symptoms, and body image among 64 patients with GSD ranging from 7-52 years old (M ¼ 18.5 years old). About half the participants were male (n ¼ 33, 51.6%). Most participants were diagnosed with GSD Type I (n ¼ 52, 81.3%). Quantitative and qualitative analyses were utilized. Results indicated that 14.8% of children and 11.1% of adolescents/ adults with GSD met the clinical cutoff for dysfunctional attitudes toward eating, suggesting high likelihood for presence of an eating disorder. However, traditional eating disorder symptoms (e.g., binging, purging, fasting, etc.) were less prevalent in the GSD sample compared to population norms (t ¼ À6.45, p < 0.001). Body esteem was generally lower for both children and adolescents/ adults with GSD compared to population norms. These results were consistent with interview responses indicating that GSD patients experience negative feedback from peers regarding their bodies, especially during childhood and adolescence. However, they reported growing acceptance of their bodies with age and reported less negative attitudes and behaviors. Assessing mental health, including symptoms of disordered eating and low body esteem, among individuals with GSD should be an important component of clinical care.

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Psychosocial Functioning in Youth with Glycogen Storage Disease Type I

Cited by 39 publications

References 38 publications

Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

Quality of Life in Adult Patients with Glycogen Storage Disease Type I: Results of a Multicenter Italian Study

Safety and Efficacy of Chronic Extended Release Cornstarch Therapy for Glycogen Storage Disease Type I

Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease

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