Evidence‐based path to newborn screening for duchenne muscular dystrophy

Mendell, Jerry R.; Shilling, Christopher; Leslie, Nancy; Flanigan, Kevin M.; al-Dahhak, Roula; Gastier‐Foster, Julie M.; Kneile, Kelley; Dunn, Diane M.; Duval, Brett; Aoyagi, A; Hamil, Cindy; Mahmoud, Maha; Roush, Kandice; Bird, Lauren; Rankin, Chelsea; Lilly, Heather; Street, Natalie; Chandrasekar, Ram; Weiss, Robert B.

doi:10.1002/ana.23528

Cited by 669 publications

(578 citation statements)

References 45 publications

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“…Screening in the newborn period may also improve the physician's ability to treat DMD most effectively. Glucocorticoid treatment prolongs ambulation and improves quality of life, and the current recommendation is to begin corticosteroid treatment when boys with DMD have stopped gaining motor milestones, but before their motor skills have begun to decline (Mendell, 2012;Bushby, 2010). The average age of diagnosis for DMD is currently 5 years of age (Ciafaloni, 2009), but the loss of motor skills may have already begun before this age.…”

Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

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Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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Introduction: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA). Methods: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history. Results: The level of support for NBS for DMD, BMD, and SMA was 95.9% among parents of children with DMD, BMD, or SMA and 92.6% among expectant parents. Conclusions: There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue. Muscle Nerve 49: 822–828, 2014

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Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

“…The average age of diagnosis for DMD is currently 5 years of age (Ciafaloni, 2009), but the loss of motor skills may have already begun before this age. An earlier diagnosis could lead to better medical management for the child (Mendell, 2012).…”

Section: Nbs Is a Well-established Public Health Initiative With Strumentioning

confidence: 99%

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

et al. 2014

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“…Duchenne muscular dystrophy (DMD, MIM 310200) is an X-linked recessive muscle disorder affecting around 1 in 3500 to 6000 newborn boys [1]. An absent or reduced expression of the dystrophin protein, caused by mutations (mainly deletions) in the dystrophin gene, results in progressive muscle degeneration [2].…”

Section: Introductionmentioning

confidence: 99%

Renal function in children and adolescents with Duchenne muscular dystrophy

Braat

Hoste

Waele

et al. 2015

Neuromuscular Disorders

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Improved life expectancy and the need for robust tools to monitor renal safety of emerging new therapies have fueled the interest in renal function in Duchenne muscular dystrophy (DMD) patients. We aimed to establish a methodology to accurately assess their renal function. Twenty DMD patients (5-22 years) were included in this prospective study. After obtaining medical history, all patients underwent a clinical examination, 24-hour ambulatory blood pressure monitoring, ultrasound of the kidneys, direct GFR measurement ( 51 Cr-EDTA, mGFR), complete blood and urine analysis. Seventeen of 20 patients were treated with corticosteroids and 5/20 with angiotensin converting enzyme inhibitor (lisinopril). No patient suffered from urinary tract infections or other renal diseases. Hypertension (systolic or diastolic blood pressure >P95) was found in 9/20 patients (8/9 patients were on steroid treatment) and a non-dipping blood pressure profile in 13/20 subjects (10/13 patients were on steroid treatment). Urinary protein to creatinine ratio was elevated in 17/18 patients, whereas 24-hour urine protein excretion was normal in all subjects. Median interquartile range (IQR) mGFR was 130.4 (29.1) mL/min/1.73 m 2 . Hyperfiltration (mGFR >150 mL/min/1.73 m 2 ) was found in 5/20 patients. Inverse correlation between mGFR and age was observed (R 2 = 0.45, p = 0.001). Serum creatinine based estimated GFR (eGFR) equations overestimated mGFR up to 300%. eGFR based on cystatin C Filler equation was closest to the mGFR (median eGFR (IQR) of 129.5 (39.7) mL/min/1.73 m 2 ). Our study demonstrates a high prevalence of hyperfiltration and hypertension in children and adolescents with DMD. Because the majority of hypertensive patients were under corticosteroid treatment, the iatrogenic cause of hypertension cannot be excluded. Serum or urine creatinine measurements are of no value to evaluate renal function in DMD patients due to the reduced skeletal muscle mass.

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“…23 Indeed, many experts advocate DMD screening in all newborns for diagnosis as early as possible. 24 Our platform can be used as a promising tool for screening asymptomatic female carriers and newborns. In the near future, with such new platforms as Miseq or Ion Torrent PGM, the testing cycle could be shortened to just a few days.…”

Section: Discussionmentioning

confidence: 99%

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

Wei

Dai

et al. 2013

Eur J Hum Genet

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Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited neuromuscular disease. However, accurate and convenient molecular diagnosis cannot be achieved easily because of the enormous size of the dystrophin gene and complex causative mutation spectrum. Such traditional methods as multiplex ligation-dependent probe amplification plus Sanger sequencing require multiple steps to fulfill the diagnosis of DMD/BMD. Here, we introduce a new single-step method for the genetic analysis of DMD patients and female carriers in real clinical settings and demonstrate the validation of its accuracy. A total of 89 patients, 18 female carriers and 245 non-DMD patients were evaluated using our targeted NGS approaches. Compared with traditional methods, our new method yielded 99.99% specificity and 98.96% sensitivity for copy number variations detection and 100% accuracy for the identification of single-nucleotide variation mutations. Additionally, this method is able to detect partial deletions/duplications, thus offering precise personal DMD gene information for gene therapy. We detected novel partial deletions of exons in nine samples for which the breakpoints were located within exonic regions. The results proved that our new method is suitable for routine clinical practice, with shorter turnaround time, higher accuracy, and better insight into comprehensive genetic information (detailed breakpoints) for ensuing gene therapy.

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Evidence‐based path to newborn screening for duchenne muscular dystrophy

Abstract: A 2-tier system of analysis for newborn screening for DMD has been established. This path for newborn screening fits our health care system, minimizes false-positive testing, and uses predetermined levels of CK on dried blood spots to predict DMD gene mutations.

Cited by 669 publications

References 45 publications

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

Renal function in children and adolescents with Duchenne muscular dystrophy

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

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