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Specific PHGKB|Neurological Disorders PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 11, 2024
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Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Oliver Schwartz et al. JAMA Pediatr 2024 4 (Posted Apr 09, 2024 8AM)

From the abstract: " Is early diagnosis through newborn screening associated with improved outcomes in infants with spinal muscular atrophy compared to those diagnosed after onset of symptoms? In this nonrandomized controlled trial within the SMARTCARE registry, patients identified by newborn screening showed better motor development with disease-modifying treatments than those who were diagnosed after onset of symptoms. These results offer supporting evidence for the benefit of newborn screening for spinal muscular atrophy. "

Susceptibility to Treatment-Resistant Depression Within Families.
Chih-Ming Cheng et al. JAMA Psychiatry 2024 4 (Posted Apr 05, 2024 9AM)

From the abstract: " Is the treatment-resistant depression (TRD) phenotype transmitted within a family? This cohort study found that, compared with control individuals match for birth year, sex, and kinship, first-degree-relatives of individuals with TRD had an increased risk of developing TRD and increased suicide mortality. The findings suggest that a family history of TRD might be a clinically significant risk factor for resistance to antidepressant treatment and increased suicide mortality, indicating that combining or altering therapies for depression might be considered instead of monotherapy at an earlier treatment stage. "

Newborn screening for Duchenne muscular dystrophy: the perspectives of stakeholders.
Charli Ji et al. Lancet Reg Health West Pac 2024 3 101049 (Posted Apr 02, 2024 10AM)

From the abstract: "Participants included 50 caregivers and 26 HCPs (68.5% and 53.1% response rate respectively). Most caregivers (40/50, 80%) perceived net benefits of DMD NBS and highlighted an early diagnosis as actionable knowledge, even with the current paucity of disease modifying therapies. This knowledge was valued to enable access to multidisciplinary supportive care (29/50, 58%), clinical trials (27/50, 54%), psychological support (28/50, 56%), inform reproductive planning (27/50, 54%), and facilitate financial planning based on the future needs of their child (27/50, 54%). "

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
Darcy L Fehlings et al. Nat Genet 2024 3 (Posted Apr 01, 2024 9AM)

From the abstract: " We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.7%) as having variants of uncertain significance. An enrichment analysis revealed previously undescribed plausible candidate CP genes (SMOC1, KDM5B, BCL11A and CYP51A1). A multifactorial CP risk profile and substantial presence of P/LP variants combine to support WGS in the diagnostic work-up across all CP and related phenotypes."

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.