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

Author(s):  
Petra Dusatkova ◽  
Marketa Pavlikova ◽  
Alena Spirkova ◽  
Lenka Elblova ◽  
Denisa Janickova Zdarska ◽  
...  

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.

JMS SKIMS ◽  
2019 ◽  
Vol 22 (2) ◽  
Author(s):  
Javaid Bhat ◽  
Shariq Rashid Masoodi ◽  
Moomin Hussain Bhat

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that is characterized by autosomal dominant mode of inheritance, an early onset diabetes, mostly mild hyperglycemia as a result of a primary defect in pancreatic β-cell function. MODY represents less than 2% of all diabetes cases and is commonly misdiagnosed as type 1 or type 2 diabetes mellitus.  It is a genetically heterogeneous form of monogenic diabetes that is caused by mutations occurring in a number of different genes thus tends to cause a slightly different variant of diabetes. At least 14 MODY subtypes with distinct genetic etiologies have been identified to date. MODY is typically diagnosed during late childhood, adolescence, or early adulthood and is usually observed to develop in adults during their late 50's. One of the main drawbacks in its diagnosis is that many people with MODY are misdiagnosed as having type 1 or type 2 diabetes owing to low index of suspicion and lack of availability of genetic testing at affordable cost. However, a molecular and genetic diagnosis results in a better treatment and could also help in identifying other family members with MODY. A high index of suspicion is required to diagnose cases of MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality of life (QOL) with increased cost and unnecessary treatment with insulin.


Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 851-P
Author(s):  
MELISSA S. FAULKNER

Diabetes Care ◽  
2008 ◽  
Vol 31 (4) ◽  
pp. 672-677 ◽  
Author(s):  
J. W. Varni ◽  
C. A. Limbers ◽  
T. M. Burwinkle ◽  
W. P. Bryant ◽  
D. P. Wilson

Endocrines ◽  
2021 ◽  
Vol 2 (4) ◽  
pp. 485-501
Author(s):  
Zoltan Antal

Maturity Onset Diabetes of the Young (MODY) encompasses a group of rare monogenic forms of diabetes distinct in etiology and clinical presentation from the more common forms of Type 1 (autoimmune) and Type 2 diabetes. Since its initial description as a clinical entity nearly 50 years ago, the underlying genetic basis for the various forms of MODY has been increasingly better elucidated. Clinically, the diagnosis may be made in childhood or young adulthood and can present as overt hyperglycemia requiring insulin therapy or as a subtle form of slowly progressive glucose impairment. Due to the heterogeneity of clinical symptoms, patients with MODY may be misdiagnosed as possessing another form of diabetes, resulting in potentially inappropriate treatment and delays in screening of affected family members and associated comorbidities. In this review, we highlight the various known genetic mutations associated with MODY, clinical presentation, indications for testing, and the treatment options available.


Author(s):  
Karina Badura Brzoza ◽  
Patryk Główczyński ◽  
Magdalena Piegza ◽  
Michał Błachut ◽  
Katarzyna Sedlaczek ◽  
...  

2019 ◽  
Vol 8 (3) ◽  
pp. 377 ◽  
Author(s):  
Minerva Granado-Casas ◽  
Esmeralda Castelblanco ◽  
Anna Ramírez-Morros ◽  
Mariona Martín ◽  
Nuria Alcubierre ◽  
...  

Diabetic retinopathy (DR) may potentially cause vision loss and affect the patient’s quality of life (QoL) and treatment satisfaction (TS). Using specific tools, we aimed to assess the impact of DR and clinical factors on the QoL and TS in patients with type 1 diabetes. This was a cross-sectional, two-centre study. A sample of 102 patients with DR and 140 non-DR patients were compared. The Audit of Diabetes-Dependent Quality of Life (ADDQoL-19) and Diabetes Treatment Satisfaction Questionnaire (DTSQ-s) were administered. Data analysis included bivariate and multivariable analysis. Patients with DR showed a poorer perception of present QoL (p = 0.039), work life (p = 0.037), dependence (p = 0.010), and had a lower average weighted impact (AWI) score (p = 0.045). The multivariable analysis showed that DR was associated with a lower present QoL (p = 0.040), work life (p = 0.036) and dependence (p = 0.016). With regards to TS, DR was associated with a higher perceived frequency of hypoglycaemia (p = 0.019). In patients with type 1 diabetes, the presence of DR is associated with a poorer perception of their QoL. With regard to TS, these subjects also show a higher perceived frequency of hypoglycaemia.


2020 ◽  
pp. 140349482095100
Author(s):  
Kristina B. Slåtsve ◽  
Tor Claudi ◽  
Knut Tore Lappegård ◽  
Anne K. Jenum ◽  
Marthe Larsen ◽  
...  

Objective: To assess the total prevalence of types 1 and 2 diabetes and to describe and compare cardiovascular risk factors, vascular complications and the quality of diabetes care in adults with types 1 and 2 diabetes in Salten, Norway. Research design and methods: Cross-sectional study including all patients with diagnosed diabetes in primary and specialist care in Salten, 2014 (population 80,338). Differences in cardiovascular risk factors, prevalence of vascular complications and attained treatment targets between diabetes types were assessed using regression analyses. Results: We identified 3091 cases of diabetes, giving a total prevalence in all age groups of 3.8%, 3.4% and 0.45% for types 2 and 1 diabetes, respectively. In the age group 30–89 years the prevalence of type 2 diabetes was 5.3%. Among 3027 adults aged 18 years and older with diabetes, 2713 (89.6%) had type 2 and 304 (10.0%) type 1 diabetes. The treatment target for haemoglobin A1c (⩽7.0%/53 mmol/mol) was reached in 61.1% and 22.5% of types 2 and 1 diabetes patients, respectively. After adjusting for age, sex and diabetes duration we found differences between patients with types 2 and 1 diabetes in mean haemoglobin A1c (7.1% vs. 7.5%, P<0.001), blood pressure (136/78 mmHg vs. 131/74 mmHg, P<0.001) and prevalence of coronary heart disease (23.1% vs. 15.8%, P<0.001). Conclusions: The prevalence of diagnosed type 2 diabetes was slightly lower than anticipated. Glycaemic control was not satisfactory in the majority of patients with type 1 diabetes. Coronary heart disease was more prevalent in patients with type 2 diabetes.


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