The burden of headache disorders in the adult general population of the Kingdom of Saudi Arabia: estimates from a cross-sectional population-based study including a health-care needs assessment.

BACKGROUND: We have previously shown headache to be highly prevalent among adults in Saudi Arabia. Here we estimate associated symptom burden and impaired participation (impaired use of time, lost productivity and disengagement from social activity), and use these estimates to assess headache-related health-care needs in Saudi Arabia. METHODS: A randomised cross-sectional survey included 2,316 adults (18-65 years) from all 13 regions of the country. It used the standardised methodology of the Global Campaign against Headache with a culturally mandated modification: engagement by cellphone using random digit-dialling rather than door-to-door visits. Enquiry used the HARDSHIP questionnaire, with diagnostic questions based on ICHD-3 beta, questions on symptom burden, enquiries into impaired participation using the HALT index and questions about activity yesterday in those reporting headache yesterday (HY). Health-care "need" was defined in terms of likelihood of benefit. We counted all those with headache on ≥ 15 days/month, with migraine on ≥ 3 days/month, or with migraine or TTH and meeting either of two criteria: a) proportion of time in ictal state (pTIS) > 3.3% and intensity ≥ 2 (moderate-severe); b) ≥ 3 lost days from paid work and/or household chores during 3 months. RESULTS: For all headache, mean frequency was 4.3 days/month, mean duration 8.4 h, mean intensity 2.3 (moderate). Mean pTIS was 3.6%. Mean lost days from work were 3.9, from household chores 6.6, from social/leisure activities 2.0. Of participants reporting HY, 37.3% could do less than half their expected activity, 19.8% could do nothing. At population-level (i.e., for every adult), 2.5 workdays (potentially translating into lost GDP), 3.6 household days and 1.3 social/leisure days were lost to headache. According to HY data, mean total impaired participation (not distinguishing between work, household and social/leisure) was 6.8%. A total of 830 individuals (35.8%) fulfilled one or more of our needs assessment criteria. CONCLUSION: A very high symptom burden is associated with a commensurately high burden of impaired participation. The economic cost appears to be enormous. Over a third of the adult population are revealed to require headache-related health care on the basis of being likely to benefit, demanding highly efficient organization of care.

Association between obesity during different age periods and multiple sclerosis in Saudi Arabia: A multicenter case-control study.

OBJECTIVES: To determine whether body size in different age periods is associated with an increased risk of MS in Saudi Arabia. METHODS: This study included 307 MS patients and 307 healthy controls from clinics and hospital wards in three cities (Riyadh, Jeddah, and Dammam) in Saudi Arabia (2016-2017). We used Stunkard's standard body silhouettes to determine the participants' body sizes (from 1 to 9) during different age periods (school levels). We calculated adjusted odds ratios (AORs) and 95% confidence intervals (CIs) and performed multivariable analysis adjusted for age and gender. RESULTS: Large body sizes (silhouettes 6-9) and body size 5 during intermediate school were associated with an increased risk of MS (AOR: 3.75, 95% CI: 1.10-12.78 and AOR: 3.75, 95% CI: 1.41-10, respectively). The smallest body size (1) during intermediate school was associated with a lower risk of MS (AOR: 0.39, 95% CI: 0.17-0.90) compared to body size 3. CONCLUSION: Overweight and obesity during the intermediate school period (ages 13-15 years) are associated with an increased risk of MS, particularly among females.

Structured headache services as the solution to the ill-health burden of headache: 1. Rationale and description

In countries where headache services exist at all, their focus is usually on specialist (tertiary) care. This is clinically and economically inappropriate: most headache disorders can effectively and more efficiently (and at lower cost) be treated in educationally supported primary care. At the same time, compartmentalizing divisions between primary, secondary and tertiary care in many health-care systems create multiple inefficiencies, confronting patients attempting to navigate these levels (the "patient journey") with perplexing obstacles.High demand for headache care, estimated here in a needs-assessment exercise, is the biggest of the challenges to reform. It is also the principal reason why reform is necessary.The structured headache services model presented here by experts from all world regions on behalf of the Global Campaign against Headache is the suggested health-care solution to headache. It develops and refines previous proposals, responding to the challenge of high demand by basing headache services in primary care, with two supporting arguments. First, only primary care can deliver headache services equitably to the large numbers of people needing it. Second, with educational supports, they can do so effectively to most of these people. The model calls for vertical integration between care levels (primary, secondary and tertiary), and protection of the more advanced levels for the minority of patients who need them. At the same time, it is amenable to horizontal integration with other care services. It is adaptable according to the broader national or regional health services in which headache services should be embedded.It is, according to evidence and argument presented, an efficient and cost-effective model, but these are claims to be tested in formal economic analyses.

The prevalence of primary headache disorders in Saudi Arabia: a cross-sectional population-based study.

BACKGROUND: The large geographical gaps in our knowledge of the prevalence and burden of headache disorders include most of Eastern Mediterranean Region (EMR). Following a nationwide population-based study in Pakistan, we present here a similar study from Kingdom of Saudi Arabia (KSA). Both were conducted as projects within the Global Campaign against Headache The two purposes of this study were to inform national health policy and contribute to global knowledge of headache disorders. METHODS: We surveyed Arabic-speaking adults aged 18-65 years in all 13 regions of KSA. While previous Global Campaign studies have engaged participants by calling at randomly selected households, the culture of KSA made this unacceptable. Participants were, instead, contacted by cell-phone (since cell-phone coverage exceeded 100% in KSA), using random-digit dialling. Trained interviewers used a culturally adapted version of the Headache-Attributed Restriction, Disability, Social Handicap and Impaired Participation (HARDSHIP) questionnaire, with diagnostic enquiry based on ICHD-II. We estimated 1-year prevalences of the headache disorders of public-health importance (migraine, tension-type headache [TTH] and probable medication-overuse headache [pMOH]) and examined their associations with demographic variables. RESULTS: A total of 2316 participants (mean age of 32.2 ± 10.7 years; 62.3% male; 37.7% female) were included (participation proportion 86.5%). Gender and age distributions imperfectly matched those of the national population, requiring adjustments for these to prevalence estimates. Observed 1-year prevalence of all headache was 77.2%, reducing to 65.8% when adjusted. For headache types, adjusted 1-year prevalences were migraine 25.0%, TTH 34.1%, pMOH 2.0% and other headache on ≥15 days/month 2.3%. Adjusted 1-day prevalence of any headache was 11.5%. Migraine and pMOH were associated with female gender (ORs: 1.7 and 4.7; p < 0.0001). Migraine was negatively associated with age > 45 years (OR: 0.4; p = 0.0143) while pMOH was most prevalent in those aged 46-55 years (OR: 2.7; p = 0.0415). TTH reportedly became more common with increasing level of education. CONCLUSION: Prevalences of migraine and TTH in KSA are considerably higher than global averages (which may be underestimated), and not very different from those in Pakistan. There is more pMOH in KSA than in Pakistan, reflecting, probably, its higher-income status and greater urbanisation (facilitating access to medication).

Environmental exposures and the risk of multiple sclerosis in Saudi Arabia.

BACKGROUND: Multiple sclerosis (MS) is the most common non-traumatic condition that leads to disability among young individuals. It is associated with demyelination, inflammation, and neurodegeneration within the central nervous system. Information on risk factors of multiple sclerosis is crucial for the prevention and control of the disease. The aim of this study was to determine risk factors of MS among adults in Saudi Arabia. METHODS: A matched multicenter case-control study, including 307 MS patients and 307 healthy controls, was conducted in MS clinics and wards in 3 main cities of Saudi Arabia. Age, gender, and hospital were matched. Information on demographics, family history of MS, past medical and family history, sun exposure at different age periods, tobacco use, diet, consanguinity, and coffee consumption was obtained from self-administered questionnaires. ORs and 95% confidence intervals (CIs) were calculated. A conditional logistic regression model was used to control for potential confounding factors. RESULTS: The conditional logistic regression adjusted for age and gender showed that being the first child in the family (Adjusted Odds Ratio (AOR) 1.68, 95% CI: 1.03-2.74), having a family history of MS (AOR 5.83, 95% CI: 2.83-12), eating fast food ≥5 times weekly (AOR 2.05, 95% CI: 1.03-4.08), and having had measles (AOR 3.77, 95% CI: 2.05-6.96), were independently associated with an increased risk of MS. In contrast, eating ≥5 servings of fruit per week (AOR 0.25, 95% CI: 0.16-0.38), drinking coffee daily (AOR 0.46, 95% CI: 0.31-0.68), and having a high level of sun exposure at the primary school level and university level (AOR 0.57, 95% CI: 0.38-0.85 and AOR 0.48, 95% CI: 0.30-0.76, respectively) were independently associated with a decreased risk of MS. CONCLUSIONS: Our study suggested that high levels of sun exposure during primary school and university, consumption of fruits and drinking coffee protect against MS. In contrast, eating fast food was associated with an increased risk of the disease. Encouraging outdoor activity and healthy diets in school, especially for females, is highly recommended.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

BACKGROUND: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms. METHODS: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities. RESULTS: These guidelines set out practical recommendations and include algorithms for the diagnosis and treatment of late-onset Pompe disease. They detail the ideal diagnostic workup, indicate the patients in whom enzyme replacement therapy should be initiated, and provide guidance on appropriate patient monitoring. CONCLUSIONS: These guidelines will serve to increase awareness of the condition, optimize patient diagnosis and treatment, reduce disease burden, and improve patient outcomes.

Cultural acceptance of robotic telestroke medicine among patients and healthcare providers in Saudi Arabia. Results of a pilot study.

OBJECTIVE: To determine the degree of satisfaction and acceptance of stroke patients, their relatives, and healthcare providers toward using telestroke technology in Saudi Arabia. METHODS: A cross-sectional study was conducted between October and December 2012 at King Abdulaziz Medical City, Ministry of National Guard Affairs, Riyadh, Saudi Arabia. The Remote Presence Robot (RPR), the RP-7i (FDA- cleared) provided by InTouch Health was used in the study. Patients and their relatives were informed that the physician would appear through a screen on top of a robotic device, as part of their clinical care. Stroke patients admitted through the emergency department, and their relatives, as well as healthcare providers completed a self-administered satisfaction questionnaire following the telestroke consultation sessions. RESULTS: Fifty participants completed the questionnaire. Most subjects agreed that the remote consultant interview was useful and that the audiovisual component of the intervention was of high quality; 98% agreed that they did not feel shy or embarrassed during the remote interview, were able to understand the instruction of the consultant, and recommended its use in stroke management. Furthermore, 92% agreed or strongly agreed that the use of this technology can efficiently replace the physical presence of a neurologist. CONCLUSION: Results suggest that the use of telestroke medicine is culturally acceptable among stroke patients and their families in Saudi Arabia and favorably received by healthcare providers.

Natalizumab treatment for multiple sclerosis: Middle East and North Africa regional recommendations for patient selection and monitoring.

BACKGROUND: Natalizumab, a highly specific α4-integrin antagonist, , has recently been registered across the Middle East and North Africa region. It improves clinical and magnetic resonance imaging (MRI) outcomes and reduces the rate of relapse and disability progression in relapsing-remitting multiple sclerosis (MS). Natalizumab is recommended for patients who fail first-line disease-modifying therapy or who have very active disease. Progressive multifocal leukoencephalopathy is a rare, serious adverse event associated with natalizumab. We aim to develop regional recommendations for the selection and monitoring of MS patients to be treated with natalizumab in order to guide local neurological societies. METHODS: After a review of available literature, a group of neurologists with expertise in the management of MS met to discuss the evidence and develop regional recommendations to guide appropriate use of natalizumab in the region. RESULTS: Disease breakthrough is defined as either clinical (relapse or disability progression) or radiological activity (new T2 lesion or gadolinium-enhancing lesions on MRI), or a combination of both. Natalizumab is recommended as an escalation therapy in patients with breakthrough disease based on its established efficacy in Phase III studies. Several factors including prior immunosuppressant therapy, anti-John Cunningham virus (JCV) antibody status and patient choice will affect the selection of natalizumab. In highly active MS, natalizumab is considered as a first-line therapy for naive patients with disabling relapses in association with MRI activity. The anti-JCV antibody test is used to assess anti-JCV antibody status and identify the risk of PML. While seronegative patients should continue treatment with natalizumab, anti-JCV antibody testing every 6 months and annual MRI scans are recommended as part of patient monitoring. In seropositive patients, the expected benefits of natalizumab treatment have to be weighed against the risks of PML. Clinical vigilance and follow-up MRI scans remain the cornerstone of monitoring. After 2 years of natalizumab therapy, monitoring should include more frequent MRI scans (every 3-4 months) for seropositive patients, and the risk-benefit ratio should be reassessed and discussed with patients. CONCLUSIONS: Recommendations have been developed to guide neurologists in the Middle East and North Africa on patient selection for natalizumab treatment and monitoring.

The methodology of population surveys of headache prevalence, burden and cost: principles and recommendations from the Global Campaign against Headache.

The global burden of headache is very large, but knowledge of it is far from complete and needs still to be gathered. Published population-based studies have used variable methodology, which has influenced findings and made comparisons difficult. Among the initiatives of the Global Campaign against Headache to improve and standardize methods in use for cross-sectional studies, the most important is the production of consensus-based methodological guidelines. This report describes the development of detailed principles and recommendations. For this purpose we brought together an expert consensus group to include experience and competence in headache epidemiology and/or epidemiology in general and drawn from all six WHO world regions. The recommendations presented are for anyone, of whatever background, with interests in designing, performing, understanding or assessing studies that measure or describe the burden of headache in populations. While aimed principally at researchers whose main interests are in the field of headache, they should also be useful, at least in parts, to those who are expert in public health or epidemiology and wish to extend their interest into the field of headache disorders. Most of all, these recommendations seek to encourage collaborations between specialists in headache disorders and epidemiologists. The focus is on migraine, tension-type headache and medication-overuse headache, but they are not intended to be exclusive to these. The burdens arising from secondary headaches are, in the majority of cases, more correctly attributed to the underlying disorders. Nevertheless, the principles outlined here are relevant for epidemiological studies on secondary headaches, provided that adequate definitions can be not only given but also applied in questionnaires or other survey instruments.

Diagnosis, prevalence estimation and burden measurement in population surveys of headache: presenting the HARDSHIP questionnaire.

The global burden of headache is very large, but knowledge of it is far from complete and needs still to be gathered. Published population-based studies have used variable methodology, which has influenced findings and made comparisons difficult. The Global Campaign against Headache is undertaking initiatives to improve and standardize methods in use for cross-sectional studies. One requirement is for a survey instrument with proven cross-cultural validity. This report describes the development of such an instrument. Two of the authors developed the initial version, which was used with adaptations in population-based studies in China, Ethiopia, India, Nepal, Pakistan, Russia, Saudi Arabia, Zambia and 10 countries in the European Union. The resultant evolution of this instrument was reviewed by an expert consensus group drawn from all world regions. The final output was the Headache-Attributed Restriction, Disability, Social Handicap and Impaired Participation (HARDSHIP) questionnaire, designed for application by trained lay interviewers. HARDSHIP is a modular instrument incorporating demographic enquiry, diagnostic questions based on ICHD-3 beta criteria, and enquiries into each of the following as components of headache-attributed burden: symptom burden; health-care utilization; disability and productive time losses; impact on education, career and earnings; perception of control; interictal burden; overall individual burden; effects on relationships and family dynamics; effects on others, including household partner and children; quality of life; wellbeing; obesity as a comorbidity. HARDSHIP already has demonstrated validity and acceptability in multiple languages and cultures. Modules may be included or not, and others (e.g., on additional comorbidities) added, according to the purpose of the study and resources (especially time) available.

HURT (Headache Under-Response to Treatment) questionnaire in the management of primary headache disorders: reliability, validity and clinical utility of the Arabic version.

BACKGROUND: To support better headache management in primary care, the Global Campaign against Headache developed an 8-question outcome measure, the Headache Under-Response to Treatment (HURT) questionnaire. HURT was designed by an expert consensus group with patient-input. It assesses the need for and response to treatment, and provides guidance on actions to optimize therapy. It has proven content validity.We aim to evaluate the Arabic version of HURT for clinical utility in primary care in Saudi Arabia. METHODS: HURT was translated according to the Global Campaign's translation protocol. We assessed test-retest reliability in consecutive patients of four primary-care centres, who completed HURT at two visits 4-6 weeks apart while receiving usual care. We then provided training in headache management to the GPs practising in these centres, which were randomized in pairs to control (standard care) or intervention (care guided by implementation of HURT). We assessed responsiveness of HURT to clinical change by comparing base-line responses to HURT questions 1-6 with those at follow up. We assessed clinical utility by comparing outcomes between control and intervention pairs after 3 months, using locally-developed 5-point verbal-rating scales: the patient-satisfaction scale (PSS) and doctor-satisfaction scale (DSS). RESULTS: For test-retest reliability in 40 patients, intra-class correlation coefficients were 0.66-0.78 for questions 1-4 and 0.90-0.93 for questions 5-7 (all P ≤ 0.001). For the dichotomous response to question 8, Kappa coefficient=1 (P<0.0001). Internal consistency was good (Cronbach's alpha=0.74). In 342 patients, HURT signalled clinical improvement over 3 months through statistically significant changes in responses to questions 1-6. PSS scores were higher among those in whom HURT recorded improvement, and also higher among those with less severe headache at baseline. Patients treated with guidance from HURT (n=207) were more satisfied than controls (n=135), but this did not quite reach statistical significance (P=0.06). CONCLUSION: The Arabic HURT Questionnaire is reliable and responsive to clinical change in Arabic-speaking headache patients in primary care. HURT showed clinical utility in this first assessment, conducted in parallel with studies elsewhere in other languages, but this needs further study. Other Arabic instruments are not available as standards for comparison.

Improving quality in population surveys of headache prevalence, burden and cost: key methodological considerations.

Population-based studies of headache disorders are important. They inform needs assessment and underpin service policy for a set of disorders that are a public-health priority. On the one hand, our knowledge of the global burden of headache is incomplete, with major geographical gaps; on the other, methodological differences and variable quality are notable among published studies of headache prevalence, burden and cost. The purpose here was to start the process of developing standardized and better methodology in these studies. An expert consensus group was assembled to identify the key methodological issues, and areas where studies might fail. Members had competence and practical experience in headache epidemiology or epidemiology in general, and were drawn from all WHO world regions. We reviewed the relevant literature, and supplemented the knowledge gathered from this exercise with experience gained from recent Global Campaign population-based studies, not all yet published. We extracted methodological themes and identified issues within them that were of key importance. We found wide variations in methodology. The themes within which methodological shortcomings had adverse impact on quality were the following: study design; selection and/or definition of population of interest; sampling and bias avoidance; sample size estimation; access to selected subjects (managing and reporting non-participation); case definition (including diagnosis and timeframe); case ascertainment (including diagnostic validation of questionnaires); burden estimation; reporting (methods and results). These are discussed.

Barriers and Motivators to Weight Loss in People With Obesity.

INTRODUCTION: Obesity has become a global public health challenge with associated health risks. Effective weight-loss interventions are crucial to mitigating these risks and improving overall well-being. However, individuals with obesity often encounter various barriers that hinder their weight loss efforts, while specific motivators can drive them towards successful outcomes. This systematic review aimed to explore the barriers and motivators to weight loss in people with obesity. METHODS: A literature search was conducted using relevant keywords in electronic databases such as PubMed, Medline, PsycINFO, and Google Scholar. Studies published in peer-reviewed journals during the last 10 years were considered for inclusion. We included studies investigating both barriers and/or motivators to weight loss published in English. RESULTS: The findings showed that motivators for weight loss include health concerns, body satisfaction, family support, normalcy restoration, emotional encouragement, self-determination, and mindful food choices. Motivators involve exercise facilities, balanced diets, and assistance from healthcare providers, peers, friends, or family. Gender influences healthcare providers' influence on weight loss, with women trusting providers more while men lean towards medication options. Healthcare providers play a role in impacting weight loss through discussions and educating patients. Age also influences motivators; adolescents emphasize health, self-esteem, and bullying avoidance, while young women focus on lifestyle influence, resources, and joy. Barriers include insufficient self-control, physical pain, time constraints, dietary restrictions, and a lack of support. Logistical issues, patient readiness, healthcare providers' views, resource scarcity, and social dynamics are also barriers. Dietary barriers involve triggers, emotional states, and limited healthy options. School-aged children with obesity face curriculum challenges and resource scarcity. CONCLUSION: These findings show the intricate interplay between motivators and barriers, underscoring the multifaceted nature of weight loss in people with obesity. Targeted interventions that address these factors holistically are essential for successful weight management.

Granulomatous myositis associated with brucellosis: a case report and literature review.

Brucellosis, a multisystem infectious disorder, continues to be a serious public health problem in some parts of the world. Neurobrucellosis constitutes about 4% of all brucellosis cases. Brucellosis-associated myositis is extremely rare, and there is only 1 reported case in the English literature. We report a 16-year-old boy with subacute, fluctuating, progressive muscle pain, with tenderness, swelling, and diffuse, asymmetric weakness. He also had significantly elevated serum Brucella titers and a muscle biopsy showed inflammatory granulomatous myositis. We review the literature on myositis associated with brucellosis.

Why HURT? A review of clinical instruments for headache management.

The Global Campaign against Headache, directed by the non-governmental organization Lifting The Burden (LTB) in official relations with the World Health Organization (WHO), aspires to reduce the global burden of headache. Ultimately this calls for improvements in headache management, largely in primary care, where most people with headache receive medical care. In support, LTB is developing a range of headache management aids for primary care. Presently, no single instrument covers the range of assessment and decision-making necessary for successful headache management, and few make the important link between assessment and clinical advice. Expressly to fill this gap, LTB has developed a new instrument: the Headache Under-Response to Treatment (HURT) Questionnaire, an eight-item, self-administered questionnaire addressing headache frequency, disability, medication use and effect, perceptions of headache "control" and knowledge of diagnosis. This instrument is intended not only to evaluate current headache outcomes and assess the need for and response to treatment, but also to provide guidance on appropriate actions towards treatment optimization. The first draft of the HURT was created by an expert consensus group, meeting at WHO headquarters in Geneva, Switzerland. The final version came about through multiple refinements following psychometric testing. Assessment of clinical utility is ongoing in multiple countries.

The immunomodulatory and neuroprotective effects of mesenchymal stem cells (MSCs) in experimental autoimmune encephalomyelitis (EAE): a model of multiple sclerosis (MS).

Mesenchymal stem cells (MSCs) are multipotent cells that differentiate into the mesenchymal lineages of adipocytes, osteocytes and chondrocytes. MSCs can also transdifferentiate and thereby cross lineage barriers, differentiating for example into neurons under certain experimental conditions. MSCs have anti-proliferative, anti-inflammatory and anti-apoptotic effects on neurons. Therefore, MSCs were tested in experimental autoimmune encephalomyelitis (EAE), an animal model of multiple sclerosis (MS), for their effectiveness in modulating the pathogenic process in EAE to develop effective therapies for MS. The data in the literature have shown that MSCs can inhibit the functions of autoreactive T cells in EAE and that this immunomodulation can be neuroprotective. In addition, MSCs can rescue neural cells via a mechanism that is mediated by soluble factors, which provide a suitable environment for neuron regeneration, remyelination and cerebral blood flow improvement. In this review, we discuss the effectiveness of MSCs in modulating the immunopathogenic process and in providing neuroprotection in EAE.

Spinal muscular atrophy carrier frequency in Saudi Arabia.

BACKGROUND: Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Although no large-scale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages. METHODS: The final analysis included 4198 normal volunteers aged between 18 and 25 years old, 54.7% males, and 45.3% females. Whole blood was spotted directly from finger pricks onto IsoCode StixTM and genomic DNA was isolated using one triangle from the machine. To discern the SMN1 copy number independently from SMN2, Multiplex PCR with Dral restriction fragment analysis was completed. We used the carrier frequency and population-level data to estimate the prevalence of SMA in the population using the life-table method. RESULTS: This data analysis showed the presence of one copy of the SMN1 gene in 108 samples and two copies in 4090 samples, which resulted from a carrier frequency of 2.6%. The carrier frequency was twofold in females reaching 3.7% compared to 1.6% in males. 27% of participants were children of first-cousin marriages. We estimated the birth incidence of SMA to be 32 per 100,000 birth and the total number of people living with SMA in the Kingdom of Saudi Arabia to be 2265 of which 188 are type I, 1213 are type II, and 8,64 are type III. CONCLUSION: The SMA carrier rate of 2.6% in Saudi control subjects is slightly higher than the reported global frequency of 1.25 to 2% with links to the high degree of consanguinity.

Saudi consensus recommendations on the management of multiple sclerosis: MS management in children and adolescents.

Multiple sclerosis (MS) most commonly presents in young adults, although 3-5% of patients develop MS prior to the age of 18 years. The new and comprehensive consensus for the management of MS in Saudi Arabia includes recommendations for the management of MS and other CNS inflammatory demyelinating disorders in pediatric and adolescent patients. This article summarizes the key recommendations for the diagnosis and management of these disorders in young patients. Pediatric and adult populations with MS differ in their presentation and clinical course. Careful differential diagnosis is important to exclude alternative diagnoses such as acute disseminated encephalomyelitis (ADEM) or neuromyelitis optica spectrum disorders (NMOSD). The diagnosis of MS in a pediatric/adolescent patient is based on the 2017 McDonald diagnostic criteria, as in adults, once the possibility of ADEM or NMOSD has been ruled out. Few data are available from randomized trials to support the use of a specific disease-modifying therapy (DMT) in this population. Interferons and glatiramer acetate are preferred initial choices for DMTs based on observational evidence, with the requirement of a switch to a more effective DMT if breakthrough MS activity occurs.

Will new injection devices for interferon ß-1a s.c. affect treatment adherence in patients with multiple sclerosis? An expert opinion in the Middle East.

Treatment adherence to disease modifying drugs (DMDs) in multiple sclerosis is sub-optimal. This, in turn, can affect patients' long-term responses to therapy. A key factor that influences treatment adherence is the need for self-injection of DMDs, which can be demanding and disruptive for patients, and difficult for those with cognitive difficulties or reduced manual dexterity. In addition, pain resulting from poor injection technique, and needle anxiety, may both compromise adherence. Changes to the formulation of interferon (IFN) beta-1a for subcutaneous injection that were designed to improve injection local tolerability, and changes in drug-delivery technology, designed to make injections simpler and more convenient for patients, were reviewed by a group of experts on MS in the Middle East. The group also considered the possible effects of these changes in drug delivery technology on patient adherence to IFN beta-1a s.c.

The importance of quality-of-life assessment in the management of patients with multiple sclerosis. Recommendations from the Middle East MS Advisory Group.

Multiple sclerosis (MS) has a major negative impact on patients` health-related quality of life (QoL). A group of MS experts in the Middle East met to develop recommendations for the routine assessment of QoL in patients with MS. The group recommended that patients need to be assessed once a year using the multiple sclerosis international QoL questionnaire (MusiQoL), which is available in Arabic. Assessments should be made when patients are relapse-free to avoid confounding factors. At other clinic visits, patients` QoL should also be monitored, alongside their physical assessment, using open and structured questions on disease features that are likely to affect their QoL. This approach should allow long-term monitoring of key features of MS that are important to patients` well being, and aid decision-making regarding their management, including the use of disease-modifying drugs.