Article
Medical Laboratory Technology
Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping Hu
Summary: In this study, different methods including qPCR, ddPCR, HRM, and PCR/CE were compared for detecting SMN1 gene copy number in spinal muscular atrophy (SMA) patients. All four methods showed excellent performance in detecting heterozygous deletion of SMN1 exon 7. Among these methods, qPCR was found to be the most cost-effective. This study provides useful information for SMA carrier screening.
CLINICA CHIMICA ACTA
(2023)
Article
Genetics & Heredity
Mohammed Al Jumah, Saad Al Rajeh, Wafaa Eyaid, Ahmed Al-Jedai, Hajar Al Mudaiheem, Ali Al Shehri, Mohammed Hussein, Ibrahim Al Abdulkareem
Summary: This study investigated the prevalence of Spinal Muscular Dystrophy (SMA) in Saudi Arabia and found a relatively high incidence rate, partly due to the high rate of consanguineous marriages. The study showed that the carrier frequency of SMA in Saudi Arabia is 2.6%, with a higher rate in females compared to males. The estimated number of people living with SMA in Saudi Arabia is 2265.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Genetics & Heredity
Yanan Sun, Songyan Ma, Juan Xiao, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Shufang Li, Ling Feng, Suhua Chen
Summary: This study aimed to clarify the acceptance rate of SMA gene screening and SMA carrier rate among reproductive age women in the Wuhan area of China. The results showed a positive attitude toward general screening for SMA carriers among women of reproductive age, indicating the necessity and feasibility of screening for SMA carriers in this population.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Review
Neurosciences
Brunhilde Wirth
Summary: The review highlights the challenging journey from gene discovery to therapy in spinal muscular atrophy (SMA), emphasizing the importance of perseverance in uncovering the biological mechanisms of the disease. Despite the impressive improvements seen with three therapeutic strategies in SMA, there are still many unanswered questions that need to be addressed as discussed in the review.
TRENDS IN NEUROSCIENCES
(2021)
Review
Pediatrics
Laura Antonaci, Maria Carmela Pera, Eugenio Mercuri
Summary: The natural history of spinal muscular atrophy has been significantly influenced by improved care standards and the availability of disease-modifying therapies. This paper aims to present the current therapeutic scenario and challenges associated with new phenotypes emerging years after the introduction of therapies. It also includes a review of real-world data, offering insights into the safety and effectiveness of the drugs beyond clinical trials. The paper emphasizes future perspectives, including ongoing clinical trials and advancements in the use of available drugs.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Medicine, Research & Experimental
Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Melissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. Wood, Kenneth H. Fischbeck
Summary: Research shows that ASOs targeting the 50 end of SMN2 can increase SMN mRNA and protein levels by inhibiting SMN2 mRNA decay. Combining 50 UTR ASO with SSO can elevate SMN levels beyond those achieved with SSO alone, offering a new therapeutic target for SMA.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2021)
Article
Genetics & Heredity
Arian Khorshid, Alleigh L. H. Boyd, Barry Behr, Qianying Zhao, Ruben Alvero, Brindha Bavan
Summary: This study evaluated the cost-effectiveness of in-vitro fertilization with preimplantation genetic testing to prevent transmission of spinal muscular atrophy to offspring of carrier couples. The results showed that IVF with PGT-M/A is cost-effective compared to unassisted conception in preventing the transmission of spinal muscular atrophy.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Chemistry, Analytical
Zhiqing Hu, Miaomiao Chen, Chunhua Zhang, Zhuo Li, Mai Feng, Lingqian Wu, Miaojin Zhou, Desheng Liang
Summary: Spinal muscular atrophy (SMA) is a major genetic cause of infant death. Researchers have developed a novel nucleic acid diagnostic method combining CRISPR/Cas14a1 and asymmetric PCR, which can specifically and sensitively detect the deletion of exon 7 of the SMN1 gene in SMA patients. The method has been validated in clinical samples and showed consistent results with other detection methods, demonstrating its potential as an accurate detection platform for genetic diseases and pathogens.
Article
Clinical Neurology
Crystal M. Proud, Eugenio Mercuri, Richard S. Finkel, Janbernd Kirschner, Darryl C. De Vivo, Francesco Muntoni, Kayoko Saito, Eduardo F. Tizzano, Isabelle Desguerre, Susana Quijano-Roy, Kamal Benguerba, Dheeraj Raju, Eric Faulkner, Laurent Servais
Summary: This study aimed to devise a rational and systematic approach for defining and grouping disease-modifying treatment scenarios for survival motor neuron-targeted diseases. The proposed classification, based on initial and subsequent treatment differentiation, was validated by applying it to the patients in the RESTORE registry.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Review
Genetics & Heredity
Jan Lejman, Grzegorz Zielinski, Piotr Gawda, Monika Lejman
Summary: Alternative splicing is a crucial mechanism that increases genetic diversity and can be a therapeutic target. Spinal Muscular Atrophy (SMA) is a neurodegenerative disease mainly caused by the homozygous deletion in the SMN1 gene, with 95% of cases attributed to this mutation.
Article
Clinical Neurology
Laura E. Habets, Bart Bartels, Fay-Lynn Asselman, Melissa T. Hooijmans, Sandra van den Berg, Aart J. Nederveen, W. Ludo van der Pol, Jeroen A. L. Jeneson
Summary: This study provides clinical evidence of abnormal muscle bioenergetics in patients with hereditary proximal spinal muscular atrophy, suggesting a potential role of mitochondrial dysfunction in the disease pathogenesis. The study also highlights the contribution of degeneration and atrophy of motor neurons and associated musculature, as well as the depletion of specific myofiber types, to muscle weakness in this cohort. These findings contribute to a better understanding of the underlying mechanisms of the disease and provide potential new biomarkers and targets for therapy.
Review
Clinical Neurology
Katarzyna Kotulska, Aviva Fattal-Valevski, Jana Haberlova
Summary: Spinal muscular atrophy is a neuromuscular disease caused by mutation of the SMN1 gene, but disease modifying therapies have shown effectiveness in improving motor functions of patients with SMA.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medicine, Research & Experimental
Dian Marta Sari, Vitriana Biben, Guswan Wiwaha, Dany Hilmanto
Summary: This study aimed to assess the characteristics of SMA patients in the Indonesian SMA Community, evaluate the association between SMA type and delayed diagnosis, and analyze the risk of spinal deformities. The results showed that SMA type 2 patients had a two-fold risk of spinal deformities, delayed diagnosis was more common in SMA type 3, and the time interval between suspicion and definite diagnosis of SMA was associated with the risk of spinal deformities.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2023)
Review
Neurosciences
Giulietta M. M. Riboldi, Irene Faravelli, Paola Rinchetti, Francesco Lotti
Summary: Since its identification as the gene responsible for SMA, the functions of the SMN protein have expanded to include roles in RNA processing pathways, mRNA trafficking and translation, axonal transport, endocytosis, and mitochondria metabolism. The SMN complex's activities are regulated by various processes, with post-translational modifications (PTMs) emerging as important regulators. PTMs, such as phosphorylation, methylation, ubiquitination, acetylation, and sumoylation, modulate the pleiotropic functions of the SMN complex. This overview focuses on the PTMs involved in regulating the SMN complex and their implications in SMA pathogenesis.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Clinical Neurology
Hee-Jin Cho, Jin-Hong Shin, Young-Eun Park, Eunhee Sohn, Tai-Seung Nam, Min-Gu Kang, Jin-Mo Park, Donghwi Park, Jin-Sung Park
Summary: Cho et al. characterized a large sample of Korean patients with genetically confirmed spinal and bulbar muscular atrophy, providing genetic, electrophysiological, clinical, and hormonal data. The findings will help interpret future clinical trial results and support early diagnosis.
Review
Oncology
Scott D. Grosse, Nancy S. Green, Sarah L. Reeves
PEDIATRIC BLOOD & CANCER
(2020)
Review
Medicine, General & Internal
Scott D. Grosse, Jessica Leung, Tatiana M. Lanzieri
Summary: This critical review examines researchers' use of diagnosis codes to identify cCMV infection in healthcare administrative databases and discusses the limitations and potential utility of using administrative data for cCMV surveillance and health services research. The prevalence estimates of cCMV cases reported in administrative data are significantly lower than the estimates of true birth prevalence based on universal newborn screening pilot studies.
CURRENT MEDICAL RESEARCH AND OPINION
(2021)
Review
Pediatrics
Scott D. Grosse, Ying Zhou
Summary: Childhood cognitive ability is positively associated with economic productivity in adulthood. Each IQ point increase is estimated to lead to a 1.4% increase in market productivity in the United States, suggesting the importance of protecting cognitive function during development.
Article
Genetics & Heredity
Scott D. Grosse, James M. Gudgeon
GENETICS IN MEDICINE
(2021)
Article
Medicine, General & Internal
Alexandra Campione, Tatiana M. Lanzieri, Emily Ricotta, Scott D. Grosse, Sameer S. Kadri, Veronique Nussenblatt, D. Rebecca Prevots
Summary: Congenital cytomegalovirus is a major cause of sensorineural hearing loss and neurodevelopmental disabilities among US children, with a low sensitivity when using diagnostic codes from healthcare databases to identify cases.
CURRENT MEDICAL RESEARCH AND OPINION
(2022)
Article
Clinical Neurology
Rieza H. Soelaeman, Michael G. Smith, Kashika Sahay, J. Mick Tilford, Dana Goodenough, Pangaja Paramsothy, Lijing Ouyang, Joyce Oleszek, Scott D. Grosse
Summary: This study estimated the productivity costs of caregivers of boys with Duchenne and Becker muscular dystrophies, finding that female caregivers, especially those caring for non-ambulatory boys with Duchenne muscular dystrophy, face significant financial burdens, leading to household budget constraints. Failure to include informal care costs in economic studies may underestimate the societal cost-effectiveness of strategies for managing DMD.
Article
Economics
Jamison Pike, Andrew J. Leidner, Harrell Chesson, Charles Stoecker, Scott D. Grosse
Summary: Cost-effectiveness analyses (CEAs) are used to quantify the economic value of potential vaccination strategies. However, limitations in epidemiologic data can significantly affect the outcomes and interpretations of CEAs. This article discusses challenges related to data inputs in conducting CEAs for vaccination strategies.
APPLIED HEALTH ECONOMICS AND HEALTH POLICY
(2022)
Article
Developmental Biology
Regina M. Simeone, Karrie F. Downing, William Bobo, Scott D. Grosse, Amber D. Khanna, Sherry L. Farr
Summary: Individuals with congenital heart defects (CHDs) have a higher prevalence of post-traumatic stress disorder (PTSD), anxiety, and depressive disorders compared to those without CHDs. Among individuals with CHDs, female sex and inpatient admission are associated with higher rates of anxiety/depressive disorders. Early screening and appropriate referral for mental health services may be beneficial for individuals with CHDs.
BIRTH DEFECTS RESEARCH
(2022)
Article
Developmental Biology
Kristin Bergman, Nina E. Forestieri, Vito L. Di Bona, Scott D. Grosse, Cynthia A. Moore
Summary: This study examines Medicaid healthcare expenditures in North Carolina for infants with defects potentially related to Zika virus (ZIKV) compared to infants with no reported defects. The results show that infants with defects potentially related to ZIKV had substantially higher Medicaid expenditures than infants with no reported defects.
BIRTH DEFECTS RESEARCH
(2022)
Article
Psychology, Developmental
Scott D. Grosse, Phyllis Nichols, Kwame Nyarko, Matthew Maenner, Melissa L. Danielson, Lindsay Shea
Summary: Strengthening systems of care for individuals with autism spectrum disorder is increasingly important, with administrative data providing advantages for research and planning purposes. However, differences in strategies employed to identify individuals with ASD in administrative data may limit comparability of results across studies.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Obstetrics & Gynecology
Rui Li, Sascha R. Ellington, Romeo R. Galang, Scott D. Grosse, Zipatly Mendoza, Stacey Hurst, Yari Vale, Eva Lathrop, Lisa Romero
Summary: This study evaluated the cost-effectiveness of the Zika Contraception Access Network (Z-CAN) and found that it was likely cost-saving in the context of a public health emergency response setting.
Letter
Genetics & Heredity
Scott D. Grosse, James M. Gudgeon
GENETICS IN MEDICINE
(2022)
Review
Genetics & Heredity
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse
Summary: The Recommended Uniform Screening Panel (RUSP) is a list of conditions suggested by the US Secretary of Health and Human Services for newborn screening. From 2010 to 2022, seven conditions were added to the RUSP, including severe combined immunodeficiency (SCID), critical congenital heart disease (CCHD), glycogen storage disease, type II (Pompe), mucopolysaccharidosis, type I (MPS I), X-linked adrenoleukodystrophy (X-ALD), spinal muscular atrophy (SMA), and mucopolysaccharidosis, type II (MPS II). The implementation of SCID and CCHD screening took 8.6 and 6.8 years, respectively, by programs in all 50 states and three territories. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation was fastest for SMA, followed by CCHD, SCID, MPS I, Pompe, and X-ALD, based on the average additional number of NBS programs per year.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2023)
Letter
Pediatrics
Scott D. Grosse, Guy Van Vliet
JOURNAL OF PEDIATRICS
(2023)
Article
Psychology, Developmental
Samuel H. Zuvekas, Scott D. Grosse, Tara A. Lavelle, Matthew J. Maenner, Patricia Dietz, Xu Ji
Summary: Published healthcare cost estimates for children with autism spectrum disorder (ASD) vary widely, and the US healthcare system still incurs substantial costs even with lower estimates than some published estimates.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
