scholarly journals Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

2021 ◽  
pp. 1-15
Author(s):  
Katlyn Elizabeth McGrattan ◽  
Robert J. Graham ◽  
Christine J. DiDonato ◽  
Basil T. Darras
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Review Literature ◽  
Future Research ◽  
Original Research ◽  
Disease Modifying Therapy ◽  
Search Terms ◽  
Disease Modifying Therapies ◽  
Disease Modifying ◽  
Alternative Nutrition

Purpose The aim of this study was to provide clinicians with an overview of literature relating to dysphagia in spinal muscular atrophy (SMA) to guide assessment and treatment. Method In this clinical focus article, we review literature published in Scopus and PubMed between 1990 and 2020 pertaining to dysphagia in SMA across the life span. Original research articles that were published in English were included. Searches were conducted within four themes of inquiry: (a) etiology and phenotypes, (b) respiratory systemic deficits and management, (c) characteristics of natural history dysphagia and its treatment, and (d) dysphagia outcomes with disease-modifying therapies. Articles for the first two themes were selected by content experts who identified the most salient articles that would provide clinicians foundational background knowledge about SMA. Articles for the third theme were identified using search terms, including spinal muscular atrophy, swallow, dysphagia, bulbar, nutrition, g-tube, alternative nutrition, jaw, mouth, palate, OR mandible . Search terms for the fourth theme included spinal muscular atrophy AND nusinersen OR AVXS-101/onasemnogene abeparvovec-xioi . Review of Pertinent Literature Twenty-nine articles were identified. Findings across identified articles support the fact that patients with SMA who do not receive disease-modifying therapy exhibit clinically significant deficits in oropharyngeal swallow function. Few investigations provided systematic information regarding the underlying physiological deficits responsible for this loss in function, the timing of the degradation, or how disease-modifying therapies change these outcomes. Conclusion Future research outlining the physiological and functional oropharyngeal swallowing deficits among patients with SMA who receive disease-modifying therapy is critical in developing standards of dysphagia care to guide clinicians.

scholarly journals HAVING A GO AT SPINAL MUSCULAR ATROPHY WITH SPINRAZA

2017 ◽  
Vol 10 (6) ◽  
pp. 16
Author(s):  
Balaji O ◽  
Amita D ◽  
Sereen Rt ◽  
Navin Ap
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Drug Administration ◽  
Muscular Atrophy ◽  
Food And Drug Administration ◽  
Neurological Condition ◽  
Disease Modifying Therapy ◽  
Different Types ◽  
Disease Modifying

Spinal muscular atrophy (SMA), a neurological condition which is genetically mediated is the second most common infantile disease causing morbidity and mortality next to cystic fibrosis. It is of five different types with each type having different severity outcomes. For almost three decades, only supportive measures were advocated in the treatment of SMA. Recently, Biogen’s Spinraza came out as the first disease modifying therapy to treat infantile as well as adult SMA. This review throws light on the pharmacological aspects of the drug; its approval by Food and Drug Administration and various completed clinical trials as well ongoing clinical trials.

Respiratory Issues in patients with Spinal Muscular Atrophy (SMA) type 1, Treated with Disease-Modifying Therapy

2021 ◽  
Author(s):  
Mirella Gaboli ◽  
Mercedes López-Lobato ◽  
Marcos Madruga-Garrido ◽  
Macarena Borrero-Rodriguez ◽  
Alejandro Palomo-Pavón ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Modifying Therapy ◽  
Disease Modifying

scholarly journals Selection of patients with myelodysplastic syndromes from a large electronic medical records database and a study of the use of disease-modifying therapy in the United States

BMJ Open ◽  
2018 ◽  
Vol 8 (7) ◽  
pp. e019955 ◽  
Author(s):  
Xiaomei Ma ◽  
David P Steensma ◽  
Bart L Scott ◽  
Pavel Kiselev ◽  
Mary M Sugrue ◽  
...  
Keyword(s):  
Myelodysplastic Syndromes ◽  
Cox Regression ◽  
Patient Characteristics ◽  
The United States ◽  
Treatment Patterns ◽  
First Line ◽  
Disease Modifying Therapy ◽  
Disease Modifying Therapies ◽  
The Usa ◽  
Disease Modifying

ObjectivesTreatment patterns for patients with myelodysplastic syndromes (MDS) outside clinical trials are not well described. Our objective was to evaluate treatment patterns and patient characteristics that influence time to disease-modifying therapy in patients with MDS in the USA.Design, participants and outcome measuresPatients with MDS treated with erythropoiesis-stimulating agents (ESAs), iron chelation therapy, lenalidomide (LEN) and the hypomethylating agents (HMAs) azacitidine and decitabine, were retrospectively identified in the GE Centricity Electronic Medical Record database between January 2006 and February 2014; LEN and HMAs were defined as ‘disease-modifying’ therapies. Multivariable Cox regression models were used to ascertain patient characteristics associated with time to disease-modifying therapy.ResultsOf the 5162 patients with MDS, 35.7%, 40.3% and 4.6% received 1, ≥1 and ≥2 therapies, respectively. ESAs were the first-line (72.5%) and only (64.0%) treatment in the majority of patients who received ≥1 therapy. ESA-only patients were older and had more comorbidities, including isolated anaemia. LEN and HMAs were first-line treatment in 12.4% of patients each; 32.7% received LEN or HMAs at any time. The majority of del(5q) patients (77.6%) received ≥1 therapy, most commonly LEN, compared with 40% of patients without del(5q). A shorter time to disease-modifying therapy was significantly associated with absence of comorbidities, diagnosis after February 2008, lower baseline haemoglobin level, age <80 years and male gender (p<0.002 for all).ConclusionsA high proportion of patients diagnosed with MDS in the USA do not receive approved disease-modifying therapies. It is important to improve access to these therapies.

Assistive Technology for Literacy in Students With Physical Disabilities: A Systematic Review

2019 ◽  
Vol 34 (4) ◽  
pp. 284-292
Author(s):  
Donna W. Stauter ◽  
Judy Prehn ◽  
Megan Peters ◽  
Lynn M. Jeffries ◽  
Lorraine Sylvester ◽  
...  
Keyword(s):  
Systematic Review ◽  
Assistive Technology ◽  
Reading Skills ◽  
Statistical Data ◽  
Physical Disabilities ◽  
Review Literature ◽  
Literacy Skills ◽  
Future Research ◽  
Statistical Data Analysis ◽  
Search Terms

The purpose of this study was to systematically review literature on assistive technology (AT) used to develop literacy skills in students with physical disabilities. Primary databases were searched using search terms AT, disability, and literacy. Eight studies were eligible for inclusion. Six studies reported positive change to literacy components with AT support, and two reported a statistically significant change. Evidence offers support for AT in developing reading skills in this population. Future research could include reliable outcome measures, a classification system for participants’ disabilities, increased rigor of research design, and statistical data analysis.

Switching first-line disease-modifying therapy after failure: impact on the course of relapsing–remitting multiple sclerosis

2009 ◽  
Vol 15 (1) ◽  
pp. 50-58 ◽  
Author(s):  
A Gajofatto ◽  
P Bacchetti ◽  
B Grimes ◽  
A High ◽  
E Waubant
Keyword(s):  
Multiple Sclerosis ◽  
Initial Therapy ◽  
First Line ◽  
Disease Modifying Therapy ◽  
Disease Modifying Therapies ◽  
Relapsing Remitting ◽  
Disease Modifying ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis

Background Options for non-responders to relapsing–remitting multiple sclerosis (RRMS) first-line disease-modifying therapies (DMT) are limited. We explored whether switching first-line DMT is effective. Methods Patients with RRMS who first received interferon-beta (IFNB) or glatiramer acetate (GA) were classified in three categories: DMT change because of suboptimal response, DMT change because of other reasons, and no DMT change during follow-up. Outcomes included annualized relapse rate (ARR) and relapse-free proportions. Results We identified 597 patients who initiated first-line DMT. For patients who did not change DMT ( n = 240), pre-DMT and on-DMT median ARR were 0.50 and 0 ( P < 0.0001). At 24 months, 76% (95%CI = 69–81%) of patients who did not change DMT were relapse-free. Of the 155 who switched because of suboptimal response, 101 switched to another first-line DMT. Median ARR pre-DMT, on first DMT and second DMT were: 0.50, 0.55, and 0.25 for switchers from IFNB to GA (IFNB/GA, n = 12) (pre-DMT versus first DMT: P = 0.92; first versus second DMT: P = 0.31); 0.90, 0.50, and 0 for switchers from GA to IFNB (GA/IFNB, n = 18; P = 0.19; P = 0.01); 0.50, 0.68, and 0 for switchers from an IFNB to another IFNB (IFNB/IFNB’, n = 71; P = 0.34; P = 0.02). Estimated relapse-free proportion after 24 months of treatment was 42% (95%CI=15–66%) during the period on IFNB versus 53% (95%CI = 17–80%) on GA for IFNB/GA ( P = 0.21); 12% (95%CI = 0–40%) on GA versus 87% (95%CI = 59–97%) on IFNB for GA/IFNB ( P = 0.001); and 41% (95%CI = 29–52%) on initial IFNB versus 67% (95%CI = 53–79%) on subsequent IFNB for IFNB/IFNB’ ( P = 0.0001). Conclusions Switching first-line DMT in patients with RRMS failing initial therapy may be effective in many cases.

scholarly journals Relationship Between Disease-Modifying Therapy and Depression in Multiple Sclerosis

2013 ◽  
Vol 15 (3) ◽  
pp. 107-112 ◽  
Author(s):  
Stephen S. Kirzinger ◽  
Jason Jones ◽  
Angela Siegwald ◽  
Andrew Bryce Crush
Keyword(s):  
Multiple Sclerosis ◽  
Initial Therapy ◽  
Score Change ◽  
Disease Modifying Therapy ◽  
Disease Modifying Therapies ◽  
Relapsing Remitting ◽  
History Of ◽  
Disease Modifying ◽  
The Relationship ◽  
History Of Depression

Many prescribers of disease-modifying therapies (DMTs) for multiple sclerosis (MS) believe that interferon beta (IFNβ) is more likely than glatiramer acetate (GA) to increase depression during the course of MS treatment. Therefore, newly diagnosed patients with a history of depression are often placed on GA therapy from the onset of MS treatment. The aim of this study was to examine the relationship between DMT type and depression among patients with relapsing-remitting MS (RRMS). Patients with RRMS who were examined from 2000 to 2007 and who remained on a single course of therapy (either an IFNβ or GA) were included in a retrospective review of medical records. Patients were asked to complete the Beck Depression Inventory (BDI) at treatment initiation and every 6 months thereafter for up to 4 years. Only patients who had completed a BDI within 6 weeks of starting their DMT were included in the analysis. No significant differences in mean change in BDI score were observed from baseline to 48 months between the IFNβ and GA subgroups. Additionally, no significant differences in mean BDI score change were observed between antidepressant-treated and non–antidepressant-treated patients within the IFNβ or GA subgroup. Neither IFNβ nor GA therapy appears to exacerbate depressive symptoms in patients with RRMS who remain on their initial therapy.

scholarly journals Use and cost of disease-modifying therapies by Sonya Slifka Study participants: has anything really changed since 2000 and 2009?

2019 ◽  
Vol 5 (1) ◽  
pp. 205521731882088 ◽  
Author(s):  
Sarah L Minden ◽  
R Philip Kinkel ◽  
Helene T Machado ◽  
Jonathan S Levin ◽  
Meredith B Rosenthal ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Family Income ◽  
Progressive Multiple Sclerosis ◽  
Primary Progressive Multiple Sclerosis ◽  
Disease Modifying Therapy ◽  
Disease Modifying Therapies ◽  
Relapsing Remitting ◽  
Disease Modifying ◽  
Remitting Multiple Sclerosis ◽  
Relapsing Remitting Multiple Sclerosis

Background Disease-modifying therapies benefit individuals with relapsing forms of multiple sclerosis, but their utility remains unclear for those without relapses. Objective To determine disease-modifying therapy use and costs in 2009, compare use in 2009 and 2000, and examine compliance with evidence-based guidelines. Methods We determined the extent and characteristics of disease-modifying therapy use by participants in the Sonya Slifka Longitudinal Multiple Sclerosis Study (Slifka) in 2000 ( n=2156) and 2009 ( n=2361) and estimated out-of-pocket and total (payer) costs for 2009. Two multivariable logistic regressions predicted disease-modifying therapy use. Results Disease-modifying therapy use increased from 55.3% in 2000 to 61.5% in 2009. In 2009, disease-modifying therapy use was reported by 76.5% of participants with relapsing-remitting multiple sclerosis, 73.2% with progressive-relapsing multiple sclerosis, 62.5% with secondary progressive multiple sclerosis, and 41.8% with primary progressive multiple sclerosis. Use was significantly associated with relapsing-remitting multiple sclerosis, shorter duration of illness, one to two relapses per year, non-ambulatory symptoms, using a cane, younger age, higher family income, and having health insurance. Average annual costs in 2009 were US$939–3101 for patients and US$16,302–18,928 for payers. Conclusion Use rates were highest for individuals with relapsing-remitting multiple sclerosis, but substantial for those with progressive courses although clinical trials have not demonstrated significant benefits for them.

scholarly journals Telerehabilitation: Policy Issues and Research Tools

2009 ◽  
Vol 1 (1) ◽  
pp. 47-58 ◽  
Author(s):  
Katherine D. Seelman ◽  
Linda M. Hartman
Keyword(s):  
Consumer Satisfaction ◽  
Review Literature ◽  
Future Research ◽  
Extensive Literature ◽  
Search Terms ◽  
Current State ◽  
Promising Application ◽  
Extensive Literature Search ◽  
State Of The Science ◽  
Cost Studies

The importance of public policy as a complementary framework for telehealth, telemedicine, and by association telerehabilitation, has been recognized by a number of experts. The purpose of this paper is to review literature on telerehabilitation (TR) policy and research methodology issues in order to report on the current state of the science and make recommendations about future research needs. An extensive literature search was implemented using search terms grouped into main topics of telerehabilitation, policy, population of users, and policy specific issues such as cost and reimbursement. The availability of rigorous and valid evidence-based cost studies emerged as a major challenge to the field. Existing cost studies provided evidence that telehomecare may be a promising application area for TR. Cost studies also indicated that telepsychiatry is a promising telepractice area. The literature did not reference the International Classification on Functioning, Disability and Health (ICF). Rigorous and comprehensive TR assessment and evaluation tools for outcome studies are tantamount to generating confidence among providers, payers, clinicians and end users. In order to evaluate consumer satisfaction and participation, assessment criteria must include medical, functional and quality of life items such as assistive technology and environmental factors. Keywords: Telerehabilitation, Telehomecare, Telepsychiatry, Telepractice

Sign in / Sign up

Export Citation Format

Share Document