scholarly journals 2020 Update to Spinal Muscular Atrophy Management in Saudi Arabia

2021 ◽  
Vol 9 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Mohamad-Hani Temsah ◽  
Khalid Hundallah ◽  
Fahad Alsohime ◽  
Yazed AlRuthia
Keyword(s):  
Gene Therapy ◽  
Saudi Arabia ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Management Strategies ◽  
Annual Conference ◽  
Type I ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Society Annual

Novel therapeutic strategies have shown some promise in treating spinal muscular atrophy (SMA). However, the outcomes and acceptance of these new strategies are yet to be explored. We aimed to investigate physicians' opinions and perceptions toward management strategies of SMA across Saudi Arabia. This is a cross-sectional survey using a self-administered, structured questionnaire sent to physicians who care for SMA patients during the Saudi Pediatric Neurology Society annual conference. A total of 72 clinicians of different neurological subspecialties were included. 48.6% prescribed nusinersen to their patients, with 39% of them having patients started on nusinersen. Though, 8.3% prescribed onasemnogene abeparvovec for 1–3 patients, while none of their patients started on the treatment. 64.3% stated that the only treatment available for SMA in their settings is supportive care. Around 69.4% described having a moderate to high knowledge on SMA gene therapy, and 79.2% would recommend it. 48.6% confirmed they would prescribe gene therapy at the age of 6 months, and 78.3% would prescribe it for type-I SMA. Pediatric neurologists are receptive to novel and innovative therapies for SMA in Saudi Arabia. However, the high treatment acquisition cost, strict regulations, logistical issues, and budget constraints delay their adoption and implementation.

scholarly journals Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Mei Yao ◽  
Yu Xia ◽  
Yijie Feng ◽  
Ying Ma ◽  
Yi Hong ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Rating Scale ◽  
Muscular Atrophy ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Anxiety And Depression ◽  
Type I ◽  
School Age ◽  
Sectional Study ◽  
Cross Sectional

Abstract Background Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA. Methods We conducted a cross-sectional study on school-age SMA patients in China. Patients aged 8–18 years with a genetic diagnosis of 5qSMA were invited to answer a questionnaire composed of sociodemographic and clinical questions, then to complete the Screen for Child Anxiety-Related Emotional Disorders and Depression Self-Rating Scale for depression and anxiety level evaluation. At the end of the questionnaire, further questions assessed the subjective anxiety and subjective depression of patients’ caregivers and their expectations for their child’s future. Results Complete data were available for 155 patients. The sample included 45.8% boys and 54.2% girls; 65.2% were type II, 27.1% were type III, and the remainder were type I SMA. Rates of anxiety and depression in these school-age SMA patients were 40.0% and 25.2%, respectively. Gender, age, and disease type were not associated with anxiety or depression, but respiratory system dysfunction, digestive system dysfunction, skeletal deformity, rehabilitation exercise, academic delay, specialized support from school, household income level, caregivers’ subjective anxiety, and caregivers’ expectations were significantly related to both anxiety and depression. Conclusions There was a high prevalence of anxiety and depression in school-age SMA patients in China. Professional psychological care maybe included in the standard of care. These results also call for possible targets for intervention such as reducing complications, improving drug accessibility, retaining normal schooling, strengthening school support, and enhancing the ability of the caregivers of SMA patients to assist in the diagnosis and treatment of the disease, so improving the mental health of SMA patients.

scholarly journals The Burden of Spinal Muscular Atrophy on Informal Caregivers

2020 ◽  
Vol 17 (23) ◽  
pp. 8989
Author(s):  
Isaac Aranda-Reneo ◽  
Luz María Peña-Longobardo ◽  
Juan Oliva-Moreno ◽  
Svenja Litzkendorf ◽  
Isabelle Durand-Zaleski ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Informal Caregivers ◽  
Cross Sectional Study ◽  
Hereditary Diseases ◽  
Type I ◽  
Cross Sectional ◽  
Degree Of Disability ◽  
Severity Of The Disease ◽  
Infancy And Early Childhood

Spinal muscular atrophy (SMA) is one of the most common severe hereditary diseases of infancy and early childhood. The progression of this illness causes a high degree of disability; hence, a significant burden is experienced by individuals with this disease and their families. We analyzed the time taken to care for patients suffering from SMA in European countries and the burden on their informal caregivers. We designed a cross-sectional study recording data from France, Germany, Spain and the United Kingdom. The primary caregivers completed a self-administered questionnaire that included questions about the time of care, The Zarit Burden Interview, type of SMA and socio-demographic characteristics. Multivariate analyses were used to study the associations between the type of SMA, time of care and burden supported by informal caregivers. The caregivers provided 10.0 h (SD = 6.7) per day of care (the principal caregivers provided 6.9 h, SD = 4.6). The informal caregivers of patients with type I SMA had a 36.3 point higher likelihood (p < 0.05) of providing more than 10 h of care per day in comparison with caregivers of patients with type III SMA. The severity of the disease was associated with more time of care and a higher burden on the caregivers.

scholarly journals Anxiety and Depression in School-age Patients With Spinal Muscular Atrophy: a Cross-sectional Study

2021 ◽  
Author(s):  
Mei Yao ◽  
Yu Xia ◽  
Yijie Feng ◽  
Ying Ma ◽  
Yi Hong ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Rating Scale ◽  
Muscular Atrophy ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Anxiety And Depression ◽  
Type I ◽  
School Age ◽  
Sectional Study ◽  
Cross Sectional

Abstract Background: Spinal muscular atrophy (SMA) is a rare neurogenetic disease which involves multisystem dysfunctions such as respiratory, digestive, and motor disorders. Anxiety, depression and other psychological disorders often accompany severe chronic physical diseases. The aim of this study was to investigate the prevalence of anxiety and depression along with their influencing factors among school-age patients with SMA.Methods: We conducted a cross-sectional study on school-age SMA patients in China. Patients aged 8–18 years with a genetic diagnosis of 5qSMA were invited to answer a questionnaire composed of sociodemographic and clinical questions, then to complete the Screen for Child Anxiety-Related Emotional Disorders and Depression Self-Rating Scale for depression and anxiety level evaluation. At the end of the questionnaire, further questions assessed the subjective anxiety and subjective depression of patients’ caregivers and their expectations for their child’s future. Results: Complete data were available for 155 patients. The sample included 45.8% boys and 54.2% girls; 65.2% were type II, 27.1% were type III, and the remainder were type I SMA. Rates of anxiety and depression in these school-age SMA patients were 40.0% and 25.2%, respectively. Gender, age, and disease type were not associated with anxiety or depression, but respiratory system dysfunction, digestive system dysfunction, skeletal deformity, rehabilitation exercise, academic delay, specialized support from school, household income level, caregivers’ subjective anxiety, and caregivers’ expectations were significantly related to both anxiety and depression. Conclusions: There was a high prevalence of anxiety and depression in school-age SMA patients in China. Professional psychological care maybe included in the standard of care. These results also call for possible targets for intervention such as reducing complications, improving drug accessibility, retaining normal schooling, strengthening school support, and enhancing the ability of the caregivers of SMA patients to assist in the diagnosis and treatment of the disease, so improving the mental health of SMA patients.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

Evaluation of current contraception methods and knowledge among females in Saudi Arabia: a cross-sectional survey

2019 ◽  
pp. 71-76
Author(s):  
Ranya Al-Harazi ◽  
Nawal Alharbi ◽  
Ola Al-Zuraiq ◽  
Reem Alkhaldi ◽  
Ilham Almousa ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Cross Sectional Survey ◽  
Cross Sectional

Evaluating the readiness of mobile technology in Saudi Arabia: An Integrative Perspective with respect to e-health (Preprint)

2020 ◽  
Author(s):  
Fahad Alanezi
Keyword(s):  
Saudi Arabia ◽  
Health System ◽  
Mobile Phones ◽  
Personal Data ◽  
Cross Sectional Survey ◽  
Cross Sectional ◽  
Health Apps ◽  
History Of ◽  
Vision 2030 ◽  
Awareness Programs

UNSTRUCTURED E-health system is emerging and providing health services and solutions through different electronic gadgets. Saudi Arabia has launched a program called Saudi Arabia vision 2030, in which providing state-of-the-art health facilities to their citizen is of topmost priority. After all the efforts, the residents of Saudi Arabia are still reluctant for the adaptation of e-health system. The current study was conducted to evaluate the obstacle in adoption of the e-health system through the mobile phones. The current study was cross-sectional survey and was conducted by developing a self-administered structured questionnaire asking the utilization of mobile phone in state of health emergency prior to ask any medical history. Majority of the participants was married and doing jobs in different firms and have their personal mobile phones (p = 0.100, > 0.05) which indicates easily access to the e-health apps. The majority of the participants suffers from either obesity or high blood pressure (p = 0.018, < 0.05) regardless of either history of mental disorder or other family history of mental diseases. The pattern of diseases with mental disorders correlate well with adoption of e-health in government policies. The obstacles in adopting e-health includes fear of the loss of personal data and information (p = 0.0401, < 0.05). Moreover, they did not trust on online medications as the doctor cannot prescribe medicines without seeing physical health of the patient. The current study concluded that by making improvement in policies and proper commercializing the e-health apps together with awareness programs can boast the adoption of e-health in Saudi Arabia.

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