Health-Related Quality of Life and Emotional Distress Among Mothers of Sons With Muscular Dystrophy as Compared to Sex- and Age Group–Matched Controls

Jackson, Jamie L.; Korth, Christina X; Leslie, Carine E.; Cotto, Jennifer; Mah, May Ling; Hor, Kan N.; Cripe, Linda H.; Al-Zaidy, Samiah; Camino, Eric; Church, Kathleen; Lehman, Kelly; Shay, Victoria; Mendell, Jerry R.

doi:10.1177/0883073820962927

Cited by 8 publications

(2 citation statements)

References 45 publications

(65 reference statements)

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“…Decreased health-related quality of life and emotional distress among mothers of sons with muscular dystrophy have been described in a study conducted at Nationwide Children's Hospital (Jackson et al, 2021). When compared to sex and age group matched controls, mothers of sons with muscular dystrophy reported poorer healthrelated quality of life across all domains of their health-related quality of life, as well as higher levels of emotional distress (Jackson et al, 2021).…”

Section: Clinical Evaluation Of Female Carriersmentioning

confidence: 99%

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Gruber

Lloyd-Puryear

Armstrong

et al. 2022

American J of Med Genetics Pt C

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Duchenne muscular dystrophy (DMD) is the most common pediatric-onset form of muscular dystrophy, occurring in 1 in 5,000 live male births. DMD is a multi-system disease resulting in muscle weakness with progressive deterioration of skeletal, heart, and smooth muscle, and learning disabilities. Pathogenic/likely pathogenic (P/LP) variants in the DMD gene, which encodes dystrophin protein, cause dystrophinopathy.All males with a P/LP variant in the X-linked DMD gene are expected to be affected.Two to 20% of female heterozygotes with a P/LP variant develop symptoms of dystrophinopathy ranging from mild muscle weakness to significant disability similar to Becker muscular dystrophy. Recently, with improvements in therapies and testing methodology, there is stronger evidence supporting newborn screening (NBS) for DMD for males and females because females may also develop symptoms. A consented pilot study to screen newborns for DMD was initiated in New York State (NYS) and conducted from 2019 to 2021. The identification of female carriers and the realization of the subsequent uncertainty of providers concerning follow-up during the pilot led to the development of algorithms for screening and diagnosis of carrier females, including both NBS and cascade molecular testing of family members.

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Section: Clinical Evaluation Of Female Carriersmentioning

confidence: 99%

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Gruber

Lloyd-Puryear

Armstrong

et al. 2022

American J of Med Genetics Pt C

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“…In a review, Landfeldt et al found [ 22 ] the informal care of patients with DMD was associated with a substantial burden, and they recommended further research to better understand the relationship between clinical implications and progression of disease and caregiver burden. A cross-sectional study by Jackson et al [ 23 ] examined mothers’ demographic characteristics and their sons’ QoL-related factors to identify which ones contribute to poorer health-related QoL and greater emotional distress. Mothers’ perception of their sons’ health-related QoL is a significant predictor of their own health-related QoL and emotional distress.…”

Section: Introductionmentioning

confidence: 99%

Development and Economic Evaluation of a Patient-Centered Care Model for Children With Duchenne Muscular Dystrophy: Protocol for a Quasi-Experimental Study

Sirari¹,

Suthar²,

Singh³

et al. 2023

JMIR Res Protoc

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Background Duchenne muscular dystrophy (DMD) is a rare progressive muscular disease that primarily affects boys. A lack of comprehensive care for patients living with DMD is directly associated with a compromised quality of life (QoL) for those affected and their caregivers. This disease also has a huge economic impact on families as its treatment requires substantial direct, indirect, and informal care costs. Objective This study presents a protocol developed to evaluate the feasibility and efficacy of a patient-centered care (PCC) model for children with DMD. The care model was designed with the aim to empower families, improve QoL, and reduce economic burden on their families. Methods This study is planned as a quasi-experimental study that will enroll 70 consecutive families with boys (aged 5-15 years) with DMD visiting a tertiary care center. The study is being conducted in 2 phases (preintervention and postintervention phases, referred to as phase 1 and phase 2, respectively). During phase 1, the patients received routine care. The study is now in phase 2, with the intervention currently being administered. The intervention is based on the PCC model individualized by the intervention team. The model has a comprehensive DMD telecare component that includes teleconsultation as one of its key components to reduce in-person physician visits at the health facility. Teleconsultation is especially beneficial for late-ambulatory and nonambulatory patients. Data on economic burden are being collected for out-of-pocket expenses for both phases during in-person visits via telephone or messaging apps on a monthly basis. QoL data for patients and their primary caregivers are being collected at 3 time points (ie, time of enrollment, end of phase 1, and end of phase 2). Outcome measures are being assessed as changes in economic burden on families and changes in QoL scores. Results Participant recruitment began in July 2021. The study is ongoing and expected to be completed by March 2023. The findings based on baseline data are expected to be submitted for publication in 2023. Conclusions This paper outlines a research proposal developed to study the impact of a PCC model for patients with DMD in low- and middle-income countries (LMICs). This study is expected to provide evidence of whether a multicomponent, patient-centric intervention could reduce economic burdens on families and improve their QoL. The results of this study could guide policy makers and health professionals in India and other LMICs to facilitate a comprehensive care program for patients living with DMD. The economic impact of a rare disease is an important consideration to formulate or evaluate any health policy or intervention related to new treatments and financial support schemes. Trial Registration Clinical Trials Registry India (ICMR-NIMS) CTRI/2021/06/034274; https://www.ctri.nic.in/Clinicaltrials/pmaindet2.php?trialid=56650 International Registered Report Identifier (IRRID) PRR1-10.2196/42491

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Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors

Pickart,

Martin,

Gross

et al. 2024

Journal of Genetic Counseling

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The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA‐approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype–phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies.

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Health-Related Quality of Life and Emotional Distress Among Mothers of Sons With Muscular Dystrophy as Compared to Sex- and Age Group–Matched Controls

Cited by 8 publications

References 45 publications

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy

Development and Economic Evaluation of a Patient-Centered Care Model for Children With Duchenne Muscular Dystrophy: Protocol for a Quasi-Experimental Study

Genetic counseling for the dystrophinopathies—Practice resource of the National Society of Genetic Counselors

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