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Feeding Difficulties and Orofacial Myofunctional Disorder in Patients with Hepatic Glycogen Storage Diseases

  • Chenia Caldeira MartinezEmail author
  • Tássia Tonon
  • Tatiéle Nalin
  • Lilia Farret Refosco
  • Carolina Fischinger Moura de Souza
  • Ida Vanessa Doederlein Schwartz
Research Report
Part of the JIMD Reports book series (JIMD, volume 45)

Abstract

Hepatic glycogen storage diseases (GSDs) are inborn errors of metabolism whose dietary treatment involves uncooked cornstarch administration and restriction of simple carbohydrate intake. The prevalence of feeding difficulties (FDs) and orofacial myofunctional disorders (OMDs) in these patients is unknown. Objective: To ascertain the prevalence of FDs and OMDs in GSD. Methods: This was a cross-sectional, prospective study of 36 patients (19 males; median age, 12.0 years; range, 8.0–18.7 years) with confirmed diagnoses of GSD (type Ia = 22; Ib = 8; III = 2; IXa = 3; IXc = 1). All patients were being treated by medical geneticists and dietitians. Evaluation included a questionnaire for evaluation of feeding behavior, the orofacial myofunctional evaluation (AMIOFE), olfactory and taste performance (Sniffin’ Sticks and Taste Strips tests), and facial anthropometry. Results: Nine (25%) patients had decreased olfactory perception, and four (11%) had decreased taste perception for all flavours. Eight patients (22.2%) had decreased perception for sour taste. Twenty-six patients (72.2%) had FD, and 18 (50%) had OMD. OMD was significantly associated with FD, tube feeding, selective intake, preference for fluid and semisolid foods, and mealtime stress (p < 0.05). Thirteen patients (36.1%) exhibited mouth or oronasal breathing, which was significantly associated with selective intake (p = 0.011) and not eating together with the rest of the family (p = 0.041). Lower swallowing and chewing scores were associated with FD and with specific issues related to eating behavior (p < 0.05). Conclusion: There is a high prevalence of FDs and OMDs in patients with GSD. Eating behavior, decreased taste and smell perception, and orofacial myofunctional issues are associated with GSD.

Keywords

Feeding and eating disorders Feeding behavior Glycogen storage disease Metabolism, inborn errors Myofunctional therapy Stomatognathic system 

Notes

Acknowledgments

The authors thank the team of the Medical Genetics Service and the Research and Graduate Program of Hospital de Clínicas de Porto Alegre (HCPA) for the collaboration in this study. We also thank the patients and families of patients with hepatic glycogen storage disease who kindly agreed to participate in this study. CAPES, CNPQ, FAPERGS, and FIPE (HCPA) also supported the work.

Supplementary material

477698_1_En_131_MOESM1_ESM.docx (14 kb)
Supplementary Material (DOCX 13 kb)

References

  1. Benjasuwantep B, Chaithirayanon S, Eiamudomkan M (2013) Feeding problems in healthy young children: prevalence, related factors and feeding practices. Pediatr Rep 5(2):38–42CrossRefGoogle Scholar
  2. Carruth BR, Ziegler PJ, Gordon A, Barr SI (2004) Prevalence of picky eaters among infants and toddlers and their caregivers’ decisions about offering a new food. J Am Diet Assoc 104(1):s57–s64CrossRefGoogle Scholar
  3. Chen YT, Kishnani PS (2012) Glycogen Storage Disease and Other Inherited Disorders of Carbohydrate Metabolism. In: Longo DL et al (eds) Harrison’s principles of internal medicine, vol II, 18th edn. McGraw-Hill, New York, pp 3198–3203Google Scholar
  4. Chou JY, Matern D, Mansfield BC, Chen YT (2002) Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2(2):121–143CrossRefGoogle Scholar
  5. Correia CE et al (2008) Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib. Am J Clin Nutr 88:1272–1276PubMedPubMedCentralGoogle Scholar
  6. Dagli A, Sentner CP, Weinstein DA (2016) Glycogen storage disease type III. GeneReview, 2016. https://www.ncbi.nlm.nih.gov/books/NBK26372/. Accessed 16 Jan 2018
  7. De Felício CM, Ferreira CLP (2008) Protocol of orofacial myofunctional evaluation with scores. Int J Pediatr Otorhinolaryngol 7(3):367–375CrossRefGoogle Scholar
  8. Derks TG, Smit GP (2015) Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis 38(3):545–550CrossRefGoogle Scholar
  9. Dunitz-Scheer M et al (2009) Prevention and treatment of tube dependency in infancy and early childhood. Infant Child Adolesc Nutr 1(2):73–82CrossRefGoogle Scholar
  10. Edwards S et al (2015) Interdisciplinary strategies for treating oral aversions in children. JPEN J Parenter Enteral Nutr 39(8):899–909CrossRefGoogle Scholar
  11. Evans S, Daly A, Chahal S, Ashmore C, MacDonald J, MacDonald A (2017) The influence of parental food preference and neophobia on children with phenylketonuria (PKU). Mol Genet Metab Rep 14:10–14CrossRefGoogle Scholar
  12. Flanagan TB, Sutton JA, Brown LM, Weinstein DA, Merlo LJ (2015) Disordered eating and body esteem among individuals with glycogen storage disease. JIMD Rep 19:23–29CrossRefGoogle Scholar
  13. Gomes CA Jr et al (2015) Percutaneous endoscopic gastrostomy versus nasogastric tube feeding for adults with swallowing disturbances. Cochrane Database Syst Rev 5:CD008096Google Scholar
  14. Hummel T, Sekinger B, Wolf SR, Pauli E, Kobal G (1997) ‘Sniffin’ Sticks’: olfactory performance assessed by the combined testing of odor identification, odor discrimination and olfactory threshold. Chem Senses 22(1):39–52CrossRefGoogle Scholar
  15. Janecke AR, Mayatepek E, Utermann G (2001) Molecular genetics of type 1 glycogen storage disease. Mol Genet Metab 73(2):117–125CrossRefGoogle Scholar
  16. Kerzner B, Milano K, MacLean WC Jr, Berall G, Stuart S, Chatoor I (2015) A practical approach to classifying and managing feeding difficulties. Pediatrics 135(2):344–353CrossRefGoogle Scholar
  17. Kishnani PS, Austin SL, Abdenur JE et al (2014) Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 16(11):e1–e1CrossRefGoogle Scholar
  18. Mascola AJ, Bryson SW, Agras WS (2010) Picky eating during childhood: a longitudinal study to age 11-years. Eat Behav 11(4):253–257CrossRefGoogle Scholar
  19. Mueller C et al (2003) Quantitative assessment of gustatory function in a clinical context using impregnated “taste strips”. Rhinology 41(1):2–6PubMedGoogle Scholar
  20. Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002) Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr 161(l):S20–S34CrossRefGoogle Scholar
  21. Santos BL et al (2014) Glycogen storage disease type I: clinical and laboratory profile. J Pediatr 90(6):572–579CrossRefGoogle Scholar
  22. Walter J, Labrune P, Laforêt P (2016) The glycogen storage diseases and related disorders. In: Saudubray JM, Baumgartner MR, Walter J (eds) Inborn metabolic diseases: diagnosis and treatment, 6th edn. Springer, Berlin, pp 131–137Google Scholar
  23. Weinstein DA, Wolfsdorf JI (2002) Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Pediatr 161:S35–S39CrossRefGoogle Scholar
  24. Wolfsdorf JI, Weinstein DA (2003) Glycogen storage disease. Rev Endocr Metab Disord 4:95–102CrossRefGoogle Scholar
  25. Wright CM, Parkinson KN, Shipton D, Drewett RF (2007) How do toddler eating problems relate to their eating behavior, food preferences, and growth? Pediatrics 120(4):e1069–e1075CrossRefGoogle Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • Chenia Caldeira Martinez
    • 1
    Email author
  • Tássia Tonon
    • 1
  • Tatiéle Nalin
    • 1
  • Lilia Farret Refosco
    • 2
  • Carolina Fischinger Moura de Souza
    • 2
  • Ida Vanessa Doederlein Schwartz
    • 1
    • 2
    • 3
  1. 1.Post-graduate Program in Medicine: Medical SciencesUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Medical Genetics Service, Hospital de Clínicas de Porto AlegrePorto AlegreBrazil
  3. 3.Department of GeneticsUniversidade Federal do Rio Grande do SulPorto AlegreBrazil

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