Newborn screening for neurodevelopmental diseases: Are we there yet?

Chung, Wendy K.; Berg, Jonathan S.; Botkin, Jeffrey R.; Brenner, Steven E.; Brosco, Jeffrey P.; Brothers, Kyle B.; Currier, Robert; Gaviglio, Amy; Kowtoniuk, Walter E; Olson, Colleen; Lloyd-Puryear, Michele A.; Saarinen, Annamarie; Şahin, Mustafa; Shen, Yufeng; Sherr, Elliott H.; Watson, Michael S.; Hu, Zhanzhi

doi:10.1002/ajmg.c.31988

Cited by 16 publications

(13 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…However, pilots are underway or recently completed in three states (Hartnett et al, 2022 ; Migliore et al, 2022 ; Parad, Sheldon, & Bhattacharjee, 2021 ), a RUSP nomination package has been submitted, and at least one state is considering adding DMD to their panel. This increase in support for DMD NBS is consistent with an overall movement to more broadly consider this disorder for NBS, recognizing benefits beyond medical treatment, which often includes avoiding a diagnostic odyssey, family planning, and enrollment in early childhood intervention services, as discussed by Chung et al ( 2022 ). The addition of neuromuscular diseases to NBS is recent, with spinal muscular atrophy (SMA) added to the RUSP in the United States in 2018.…”

Section: Introductionsupporting

confidence: 57%

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

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionsupporting

confidence: 57%

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

Self Cite

View full text Add to dashboard Cite

show abstract

“…Increasing educational resources focused on data utilization to explain transient biomarker elevations has the potential to increase medical literacy and enhance parental trust within the medical system. Additionally, timely diagnosis and intervention will aid parents in their navigation of the previously challenging diagnostic odyssey experienced by families associated with obtaining a DMD diagnosis [ 40 , 41 ].…”

Section: Discussionmentioning

confidence: 99%

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

Hartnett

Lloyd-Puryear

Tavakoli

et al. 2022

IJNS

View full text Add to dashboard Cite

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis within the newborn period a high priority. We undertook a consortia approach to advance DMD newborn screening in the United States. This manuscript describes the formation of the Duchenne Newborn Screening Consortium, the development of the pilot protocols, data collection tools including parent surveys, and findings from the first year of a two-year pilot. The DMD pilot design is population-based recruitment of infants born in New York State. Data tools were developed to document the analytical and clinical validity of DMD NBS, capture parental attitudes, and collect longitudinal health information for diagnosed newborns. Data visualizations were updated monthly to inform the consortium on enrollment. After 12 months, 15,754 newborns were screened for DMD by the New York State Newborn Screening (NYS NBS) Program. One hundred and forty screened infants had borderline screening results, and sixteen infants were referred for molecular testing. Three male infants were diagnosed with dystrophinopathy. Data from the first year of a two-year NBS pilot for DMD demonstrate the feasibility of NBS for DMD. The consortia approach was found to be a useful model, and the Newborn Screening Translational Research Network’s data tools played a key role in describing the NBS pilot findings and engaging stakeholders.

show abstract

“…Younger children were diagnosed 2 years earlier on average than older children, with 27.0% diagnosed within the first year after birth. Such a timely diagnosis holds the potential to assist parents in navigating the historically challenging diagnostic journey that families typically face when seeking a DMD diagnosis [ 31 , 32 ]. The diagnostic age differences between the younger and older siblings ranged from 5 years early to 3 years later, with the older sibling receiving a later diagnosis at an average age of 4.3 years, aligning with the previous literature [ 27 , 30 , 33 ].…”

Section: Discussionmentioning

confidence: 99%

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

Bhattacharyya,

Campoamor,

Armstrong

et al. 2024

IJNS

View full text Add to dashboard Cite

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder diagnosed in childhood. Limited newborn screening in the US often delays diagnosis. With multiple FDA-approved therapies, early diagnosis is crucial for timely treatment but may entail other benefits and harms. Using a community-based survey, we explored how parents of siblings with DMD perceived early diagnosis of one child due to a prior child’s diagnosis. We assessed parents’ viewpoints across domains including diagnostic journey, treatment initiatives, service access, preparedness, parenting, emotional impact, and caregiving experience. We analyzed closed-ended responses on a −1.0 to +1.0 scale to measure the degree of harm or benefit parents perceived and analyzed open-ended responses thematically. A total of 45 parents completed the survey, with an average age of 43.5 years and 20.0% identifying as non-white. Younger siblings were diagnosed 2 years earlier on average (p < 0.001). Overall, parents viewed early diagnosis positively (mean: 0.39), particularly regarding school preparedness (+0.79), support services (+0.78), treatment evaluation (+0.68), and avoiding diagnostic odyssey (+0.67). Increased worry was a common downside (−0.40). Open-ended responses highlighted improved outlook and health management alongside heightened emotional distress and treatment burdens. These findings address gaps in the evidence by documenting the effectiveness of early screening and diagnosis of DMD using sibling data.

show abstract

Newborn screening for neurodevelopmental diseases: Are we there yet?

Cited by 16 publications

References 41 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

Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot

Assessing the Benefits and Harms Associated with Early Diagnosis from the Perspective of Parents with Multiple Children Diagnosed with Duchenne Muscular Dystrophy

Contact Info

Product

Resources

About