Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes

Abstract

Aims We investigated the quality of life (QoL), treatment satisfaction and perception of genetic results in participants with Maturity-Onset Diabetes of the Young (MODY) and compared the results with those of subjects with type 1 (T1D) or type 2 (T2D) diabetes.

Methods A total of 162 adults with GCK-MODY, 62 with HNF1A-MODY and 29 with HNF4A-MODY answered the questionnaire Audit of Diabetes Dependent Quality of Life, the Diabetes Treatment Satisfaction Questionnaire and non-validated instrument examining the respondent’s perception of the genetic results. Data from GCK-MODY patients were compared with 84 participants with T2D and HNF-MODY subjects were compared with 81 participants having T1D.

Results Higher age (p=0.004), higher haemoglobin A1c (p=0.026) and medication (p=0.019) were associated with lower general QoL in GCK-MODY patients. In HNF-MODY patients, lower general QoL was associated with a longer time since diagnosis (p=0.005), worse haemoglobin bA1c (p=0.006) and insulin treatment (p=0.019). Similar numbers of participants with GCK- and HNF-MODY considered the genetic diagnosis of MODY to be positive, negative and without significance. The patient with GCK-MODY did not differ from those with T2D in terms of their QoL, but they were less satisfied with their treatment (p<0.001). QoL was better in patients with HNF-MODY compared with patients with T1D (p=0.006), and they did not differ in terms of treatment satisfaction.

Conclusions QoL was affected in both GCK-MODY and HNF-MODY subjects. Apprehension of genetic diagnosis was not single-valued in MODY respondents.

Key words

monogenic diabetes - psychological aspects - health care delivery

Publication History

Received: 11 January 2020
Received: 20 May 2020

Accepted: 12 June 2020

Article published online:
28 July 2020

• References

• 1 Tattersall RB. Mild familial diabetes with dominant inheritance. Q J Med 1974; 43: 339-357
• 2 Shields BM, Hicks S, Shepherd MH. et al. Maturity-onset diabetes of the young (MODY): how many cases are we missing?. Diabetologia 2010; 53: 2504-2508
• 3 Froguel P, Vaxillaire M, Sun F. et al. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 1992; 356: 162-164
• 4 Hattersley AT, Turner RC, Permutt MA. et al. Linkage of type 2 diabetes to the glucokinase gene. Lancet 1992; 339: 1307-1310
• 5 Yamagata K, Oda N, Kaisaki PJ. et al. Mutations in the hepatocyte nuclear factor-1alpha gene in maturity- onset diabetes of the young (MODY3). Nature 1996; 384: 455-458
• 6 Yamagata K, Furuta H, Oda N. et al. Mutations in the hepatocyte nuclear factor-4alpha gene in maturity- onset diabetes of the young (MODY1). Nature 1996; 384: 458-460
• 7 Chakera AJ, Steele AM, Gloyn AL. et al. Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation. Diabetes Care 2015; 38: 1383-1392
• 8 Steele AM, Shields BM, Wensley KJ. et al. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA 2014; 311: 279-286
• 9 Stride A, Shields B, Gill-Carey O. et al. Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia 2014; 57: 54-56
• 10 Colclough K, Bellanne-Chantelot C, Saint-Martin C. et al. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat 2013; 34: 669-685
• 11 Bacon S, Kyithar MP, Rizvi SR. et al. Successful maintenance on sulphonylurea therapy and low diabetes complication rates in a HNF1A-MODY cohort. Diabet Med 2016; 33: 976-984
• 12 Pearson ER, Liddell WG, Shepherd M. et al. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes. Diabet Med 2000; 17: 543-545
• 13 Pearson ER, Pruhova S, Tack CJ. et al. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia 2005; 48: 878-885
• 14 Naylor R. Economics of genetic testing for diabetes. Curr Diab Rep 2019; 19: 23
• 15 Naylor RN, John PM, Winn AN. et al. Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. Diabetes Care 2014; 37: 202-209
• 16 Shepherd M, Pearson ER, Houghton J. et al. No deterioration in glycemic control in HNF-1alpha maturity-onset diabetes of the young following transfer from long-term insulin to sulphonylureas. Diabetes Care 2003; 26: 3191-3192
• 17 Szopa M, Matejko B, Ucieklak D. et al. Quality of life assessment in patients with HNF1A-MODY and GCK-MODY. Endocrine 2019; 64: 246-253
• 18 Speight J, Reaney MD, Barnard KD. Not all roads lead to Rome-a review of quality of life measurement in adults with diabetes. Diabet Med 2009; 26: 315-327
• 19 Barr JT. The outcomes movement and health status measures. J Allied Health 1995; 24: 13-28
• 20 Rubin RR, Peyrot M. Quality of life and diabetes. Diabetes Metab Res Rev 1999; 15: 205-218
• 21 Pruhova S, Dusatkova P, Sumnik Z. et al. Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pediatr Diabetes 2010; 11: 529-535
• 22 Bradley C, Todd C, Gorton T. et al. The development of an individualized questionnaire measure of perceived impact of diabetes on quality of life: the ADDQoL. Qual Life Res 1999; 8: 79-91
• 23 Bradley C, Speight J. Patient perceptions of diabetes and diabetes therapy: assessing quality of life. Diabetes Metab Res Rev 2002; 18 (Suppl. 03) S 64-69
• 24 Fitzpatrick R, Davey C, Buxton MJ. et al. Evaluating patient-based outcome measures for use in clinical trials. Health Technol Assess 1998; 2 i-iv 1-74
• 25 Bradley C. The Diabetes Treatment Satisfaction Questionnaire: DTSQ. In Handbook of Psychology and Diabetes: a guide to psychological measurement in diabetes research and practise. Chur, Switzerland: Harwood Academic Publishers; 1994
• 26 Bradley C, Gamsu DS. Guidelines for encouraging psychological well-being: report of a Working Group of the World Health Organization Regional Office for Europe and International Diabetes Federation European Region St Vincent Declaration Action Programme for Diabetes. Diabet Med 1994; 11: 510-516
• 27 Costa FA, Guerreiro JP, Duggan C. An Audit of Diabetes Dependent Quality of Life (ADDQoL) for Portugal: exploring validity and reliability. Pharm Pract (Granada) 2006; 4: 123-128
• 28 Ellard S, Bellanne-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008; 51: 546-553
• 29 Guenat E, Seematter G, Philippe J. et al. Counterregulatory responses to hypoglycemia in patients with glucokinase gene mutations. Diabetes Metab 2000; 26: 377-384
• 30 Chakera AJ, Hurst PS, Spyer G. et al. Molecular reductions in glucokinase activity increase counter-regulatory responses to hypoglycemia in mice and humans with diabetes. Mol Metab 2018; 17: 17-27
• 31 Hattersley AT, Patel KA. Precision diabetes: learning from monogenic diabetes. Diabetologia 2017; 60: 769-777
• 32 American Diabetes Association Standards of Medical Care in Diabetes - 2017. Diabetes Care 2017; 40: S1-S135
• 33 Shepherd M. Stopping insulin injections following genetic testing in diabetes: impact on identity. Diabet Med 2010; 27: 838-843