Isolated Cervical Dystonia: Management and Barriers to Care.

Background: Cervical dystonia (CD) is a rare disorder, and health care providers might be unfamiliar with its presentation, thus leading to delay in the initial diagnosis. The lack of awareness displays the need to highlight the clinical features and treatment in cervical dystonia. In our cohort, we have identified an earlier age of onset in men, despite an overall preponderance of affected women. Objective: We aim to identify the prevalence, age of onset, spread, and treatment modalities of CD in the population. We also highlight the barriers which patients encounter related to diagnosis, follow-up, and treatment. Methods: We reviewed 149 CD patients who attended specialized Dystonia Clinics over a 14-year period. Dystonia severity was rated using the Burke-Fahn-Marsden (BFM), Tsui, and Toronto Western Spasmodic Torticollis Rating Scales (TWSTRS). Mood and quality of life were assessed using Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and 36-Item Short Form Health Survey (SF-36). Results: CD patients were majority White (91.3%) and more commonly female (75.8%). Men had an earlier median age of onset, 40.5 years (p = 0.044). BAI revealed a mean score of 7.2 (±6.4, n = 50) indicating minimal anxiety while BDI revealed a mean score of 7.30 (±7.6, n = 50) indicating minimal depression. The only SF-36 subscales associated with CD severity were physical functioning (p = 0.040) pain (p = 0.008) and general health (p = 0.014). Conclusion: There appear to be gender differences in both the prevalence and age of onset of the disease. There was a 3-fold higher incidence in women than in men. CD patients of both sexes experience barriers to care, which can be reflected in their quality of life and time-to-diagnosis. In addition, males were less likely to experience an objective benefit with botulinum toxin treatment and more likely to discontinue care. Greater awareness of CD by health care providers is important to reduce the time-to-diagnosis.

The landscape of early infantile epileptic encephalopathy in a consanguineous population.

PURPOSE: Epileptic encephalopathies (EE), are a group of age-related disorders characterized by intractable seizures and electroencephalogram (EEG) abnormalities that may result in cognitive and motor delay. Early infantile epileptic encephalopathies (EIEE) manifest in the first year of life. EIEE are highly heterogeneous genetically but a genetic etiology is only identified in half of the cases, typically in the form of de novo dominant mutations. METHOD: This is a descriptive retrospective study of a consecutive series of patients diagnosed with EIEE from the participating hospitals. A chart review was performed for all patients. The diagnosis of epileptic encephalopathy was confirmed by molecular investigations in commercial labs. In silico study was done for all novel mutations. A systematic search was done for all the types of EIEE and their correlated genes in the literature using the Online Mendelian Inheritance In Man and PubMed databases. RESULTS: In this case series, we report 72 molecularly characterized EIEE from a highly consanguineous population, and review their clinical course. We identified 50 variants, 26 of which are novel, causing 26 different types of EIEE. Unlike outbred populations, autosomal recessive EIEE accounted for half the cases. The phenotypes ranged from self-limiting and drug-responsive to severe refractory seizures or even death. CONCLUSIONS: We reported the largest EIEE case series in the region with confirmed molecular testing and detailed clinical phenotyping. The number autosomal recessive predominance could be explained by the society's high consanguinity. We reviewed all the EIEE registered causative genes in the literature and proposed a functional classification.

Bowel function and its associated variables in Saudi adults. A population based study.

OBJECTIVE: To study bowel patterns (function/habits) and its associated variables in an adult Saudi population. METHODS: In a cross sectional study, a 21-item questionnaire on bowel function (habits and frequency) was distributed to 10,000 high school students from all 5 regions of Riyadh City, Saudi Arabia, between February and April 2011. The randomly selected students, and 2 of their household or family members completed the questionnaire. Socio-demographic characteristics, eating habits, chronic diseases, and medications used were studied. RESULTS: Sixty-one percent (N=4918) were above the age of 16 years, of which 51.5% were males, and 88.1% were Saudis. It was observed that 18.1% of respondents perceived their bowel movements as being irregular and abnormal. There was no association between gender and abnormal/irregular bowel movement (OR: 0.89; p=0.13). Individuals over 60 years suffered from bowel pattern abnormalities (OR=1.8; p=0.01). Educational status (secondary), occupation (teacher and unemployed), diet habits, and chronic diseases of study subjects were also statistically significantly associated with their bowel movements. Respondents consuming more vegetables, fruits, meats, dairy products, and rice had significantly more normal bowel movements. Females tended to defecate less frequently as compared with males (p<0.0001). Approximately 40% of both genders have bowel movements at least once a day. CONCLUSION: Our results may serve as a baseline for appropriate intervention strategies, and also for future studies to substantiate, negate, or add more observations/conclusions.