Newborn screening for Duchenne muscular dystrophy gains support

Levenson, Deborah

doi:10.1002/ajmg.a.35799

Cited by 2 publications

(1 citation statement)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is unknown whether or how the experience of the diagnostic odyssey contributes to mothers' long-term perceptions of unmet psychological needs and caregiving strengths. This is especially important in relation to efforts to promote earlier diagnosis of neuromuscular disorders (Lorio et al 2015;Noritz and Murphy 2013) and to include DBMD in newborn screening where the diagnostic process and timeline is quite different (Levenson 2012). Additional studies may provide nuance about how to best support the needs of parents of children identified pre-symptomatically compared to those who are identified after symptom onset.…”

Section: Discussionmentioning

confidence: 99%

Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy

Peay

Meiser

Kinnett

et al. 2017

Journal of Genetic Counseling

View full text Add to dashboard Cite

Care guidelines for Duchenne/Becker muscular dystrophy (DBMD) include recommendations for assessment of caregivers of patients with DBMD followed by proactive psychosocial interventions. To inform clinical assessment, this study described appraisals of psychosocial needs and caregiving facilitators of mothers of individuals with DBMD. Two hundred and five mothers completed an online survey. More than 50% endorsed unmet needs for managing uncertainty about the future and managing DBMD fears. Higher levels of unmet need were associated with less disease progression/earlier stage of DBMD (rho = -0.166 p = 0.02). Twenty-one percent regularly used respite care and 57% worried about allowing others to care for their child. Highly-endorsed care facilitators included partner relationships (63%), child's approach to life (59%), and family relationships (49%). Our findings highlight the importance of psychological and social support for caregivers. Starting when children are young, clinicians should assess caregivers' unmet psychological needs, particularly uncertainty and fear. Exploring needs and facilitators may allow clinics to target and customize interventions that build upon existing strengths and supports. Our findings have implications for efforts to promote early diagnosis and newborn screening, in that increased needs in mothers of younger children should be anticipated and built into counseling. Further research can assess whether and how unmet needs change as new therapies become available.

show abstract

Section: Discussionmentioning

confidence: 99%

Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy

Peay

Meiser

Kinnett

et al. 2017

Journal of Genetic Counseling

View full text Add to dashboard Cite

show abstract

Newborn Screening for Spinal Muscular Atrophy in New York State

et al. 2022

View full text Add to dashboard Cite

Background and Objectives:Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, largely on the basis of the availability and efficacy of newly-approved disease modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening.Methods:Statewide neonatal screening was conducted using DNA extracted from dried blood spots using a real-time quantitative polymerase chain reaction (qPCR) assay. Retrospective follow-up data were collected from 9 referral centers across the state on 34 infants.Results:In the first three years since statewide implementation, nearly 650,000 infants have been screened for SMA. 34 babies screened positive and were referred to a neuromuscular specialty care center. The incidence remains lower than previously predicted. The majority (94%), including all infants with 2-3 copies of SMN2, have received treatment. Among treated infants, the overwhelming majority (97%; 29/30) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic post-treatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data from a subgroup of patients (n=11) for whom pre- and post-treatment data demonstrated either improvement or no change in CMAP amplitude at last clinical follow-up compared to pre-treatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 DOL; range 11-180). Delays and barriers to treatment identified by treating clinicians followed two broad themes: medical and non-medical. Medical delays most commonly reported were presence of AAV9 antibodies and elevated troponin I levels. Non-medical barriers included delays in obtaining insurance as well as insurance policies regarding specific treatment modalities.Discussion:The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including electromyography can potentially be helpful in detecting pre-clinical decline.

show abstract

Newborn screening for Duchenne muscular dystrophy gains support

Cited by 2 publications

References 5 publications

Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy

Psychosocial Needs and Facilitators of Mothers Caring for Children with Duchenne/Becker Muscular Dystrophy

Newborn Screening for Spinal Muscular Atrophy in New York State

Contact Info

Product

Resources

About