Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

Bogue, Lauren; Peay, Holly; Martin, Ann; Lucas, Ann; Ramchandren, Sindhu

doi:10.1016/j.nmd.2016.09.008

Cited by 11 publications

(11 citation statements)

References 12 publications

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“…In this study, 71.7% (43/60) of carriers received appropriate cardiac screening which is higher than was found in two previous studies of carriers of DBMD (Bobo et al, ; Bogue et al, ). Increased support, accountability from other registry members, and access to educational materials may act to positively influence cardiac screening adherence among members of The Duchenne Registry.…”

Section: Discussioncontrasting

confidence: 60%

“…Bobo, Kenneson, Kolor, and Brown () found that of 833 carriers living in the United States, 35.6% had never had an echocardiogram despite being aware of their carrier status. A similar study (Bogue, Peay, Martin, Lucas, & Ramchandren, ) conducted of 182 women in the United States found that 45.5% of confirmed carriers had had an echocardiogram in the past 5 years.…”

Section: Introductionmentioning

confidence: 83%

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Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy

Eekhoff

Edwards

Martin

et al. 2019

Journal of Genetic Counseling

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Duchenne and Becker muscular dystrophy (DBMD) are X-linked conditions causing progressive muscle weakness, muscle wasting, and cardiomyopathy in affected males. Two-thirds of cases of DBMD are inherited from a carrier female while onethird of cases occur sporadically. Women who are DBMD carriers typically do not manifest noticeable muscular symptoms. However, about 10% may develop cardiomyopathy while up to 60% are at risk for cardiac abnormalities including myocardial damage, fibrosis, and abnormalities detectable by echocardiogram and electrocardiogram (EKG). The American Academy of Pediatrics (AAP) recommends that carriers of DBMD receive a complete cardiac evaluation beginning at age 25-30 which includes an echocardiogram and EKG, with re-evaluation at least every 5 years. As many as 54.5% carriers may not be adhering to the AAP recommendations (Bogue et al., 2016). This study was conducted to define the perceived challenges carriers of DBMD face in obtaining cardiac care. A questionnaire was completed by 60 carriers of DBMD recruited through The Duchenne Registry to determine their current cardiac care practices. The majority of carriers surveyed (71.7%, 43/60) self-reported obtaining appropriate cardiac care while 28.3% (17/60) of carriers surveyed did not.Eleven semi-structured telephone interviews were conducted with a subset of those who completed the questionnaire. Individuals were eligible for telephone interview if they had not: (a) seen a cardiologist in the last 5 years, (b) had an echocardiogram in the last 5 years, or (c) had an EKG in the last 5 years. The primary theme identified from this cohort was a perceived lack of awareness among healthcare providers regarding cardiac risks in carriers (11/11). Increased awareness, health education regarding risks for carriers, and advocacy efforts are needed for healthcare providers and DBMD carriers in order to ensure that this entire population receives the cardiac care they need. K E Y W O R D S access, Becker muscular dystrophy, cardiac care, cardiomyopathy, DBMD, Duchenne muscular dystrophy, education, genetic counseling, X-linked disorders S U PP O RTI N G I N FO R M ATI O N Additional supporting information may be found online in the Supporting Information section at the end of the article. How to cite this article: Eekhoff L, Edwards J, Martin A, Prijoles Eloise J. Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy. J Genet

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Section: Discussioncontrasting

confidence: 60%

Section: Introductionmentioning

confidence: 83%

Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy

Eekhoff

Edwards

Martin

et al. 2019

Journal of Genetic Counseling

Self Cite

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“…In a study of 99 carriers monitored over a median of 9 (7.0-10.6) years in the Netherlands, Schade van Westrum et al [7] initially identified 11 carriers with dilated cardiomyopathy, including 1 who died due to cardiac failure and 9 who later developed dilated cardiomyopathy. The number of female carriers suffering from cardiomyopathy is expected to increase with age, but there is limited clinical information on this condition that is useful for following female dystrophinopathy carriers [18]. This is a particular concern in Japan due to ethical issues that persist for genetic rare diseases in a relatively conservative society (Kobayashi et al in revision); thus, this type of study might have been viewed as a kind of taboo.…”

Section: Discussionmentioning

confidence: 99%

“…Since 2015, we have added speckle tracking echocardiography (STE) (Vivid q and EchoPac PC, GE Healthcare, Milwaukee, WI, USA), which enables quantitative assessment of regional myocardial deformation. It has been reported that this advanced technique is useful for early detection of cardiac fibrosis due to cardiomyopathy in patients with dystrophinopathy [15][16][17][18]. A respiratory function test was also performed in some participants in the general examination.…”

Section: Methodsmentioning

confidence: 99%

Detection and management of cardiomyopathy in female dystrophinopathy carriers

Adachi

Hashiguchi

Saito

et al. 2018

Journal of the Neurological Sciences

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Regular health checkups for mothers of patients with Duchenne muscular dystrophy have been performed at National Hospital Organization Tokushima Hospital since 1994. Among 43 mothers participated in this study, 28 dystrophinopathy carriers were identified. Skeletal and cardiac muscle functions of these subjects were examined. High serum creatine kinase was found in 23 subjects (82.1%). Obvious muscle weakness was present in 5 (17.8%) and had progressed from 1994 to 2015. Cardiomyopathy was observed in 15 subjects (60.0%), including dilated cardiomyopathy-like damage that was more common in the left ventricular (LV) posterior wall. Late gadolinium enhancement on cardiac MRI was found in 5 of 6 subjects, suggesting fibrotic cardiac muscle. In speckle tracking echocardiography performed seven years later, global longitudinal strain was decreased in these subjects, indicating LV myocardial contractile abnormality. These results suggest that female dystrophinopathy carriers should receive regular checkups for detection and treatment of cardiomyopathy, even if they have no cardiac symptoms.

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“…Genetic testing and counseling of carriers are provided as a medical service under the health insurance system in the Netherlands and the UK, but not in Japan, Korea, or China, which may be one reason why genetic testing is performed more often in Europe than in Asian countries. In a recent report on the US DuchenneConnect patient registry, the cost of testing was the most commonly identified barrier to genetic screening ( 18 ). In addition, we considered two other possible reasons for why fewer mothers undergo genetic examinations in Japan: insufficient explanation of the risk of the onset from clinicians, and a conservative attitude toward genetic testing in general in Japan.…”

Section: Discussionmentioning

confidence: 99%

Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan

Kobayashi¹,

Hatakeyama²,

Ishizaki³

et al. 2018

Intern. Med.

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Objective This study attempted to clarify the current status of female dystrophinopathy carriers, including the numbers of patients, the status of genetic screening, the status of counseling, physicians' understanding, and barriers to registration. Methods We sent out questionnaires to 402 physicians registered in the Remudy dystrophinopathy registry. The total number of responses received was 130 (response rate: 32%). Result In total, 1,212 cases of Duchenne muscular dystrophy, 365 cases of Becker muscular dystrophy, and 132 cases of female dystrophinopathy with a confirmed genetic mutation were encountered, and genetic testing was performed in the mother in 137, 23, and 12 cases, respectively. With respect to the risk of the onset of health problems, 25% of physicians always explained, 29% usually explained, 29% sometimes explained, and 13% never explained the risk to the mothers and female siblings of dystrophinopathy patients. The most common reason for not explaining the risk was a lack of knowledge/information. Thirty-five percent were familiar with the guidelines for testing the heart function of carriers. Conclusion Fewer mothers of dystrophinopathy patients have undergone genetic testing in Japan than in other countries. A significant portion of doctors did not explain the risks of health problems due to a lack of knowledge. We hope this survey will lead to an increased discussion of female dystrophinopathy patients.

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Knowledge of carrier status and barriers to testing among mothers of sons with Duchenne or Becker muscular dystrophy

Cited by 11 publications

References 12 publications

Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy

Assessing the barriers to cardiac care in carriers of Duchenne and Becker muscular dystrophy

Detection and management of cardiomyopathy in female dystrophinopathy carriers

Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan

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