Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.

BACKGROUND: Neuro-muscular disorders constitutes a group of rare but heterogeneous conditions. The onset of these diseases ranges widely from birth to elderly. Many of them are life threatening and progressive. Neuromuscular science is a very specialised medical field for which specific knowledge and expertise are necessary. Such an expertise is available only partially in Kazakhstan where underdiagnosis, misdiagnosis and mismanagement of patients with muscle diseases are commonplace. Hopefully, times are changing. With the implementation of international guidelines for the diagnosis and treatment of Duchenne Muscular Dystrophy (DMD), patients are now given better care including pharmacological interventions (including steroids in DMD), respiratory and nutritional support. OBJECTIVES: To report on clinical data and genetic variants in a nationwide cohort of DMD patients. To describe and analyse management strategies applied in Kazakhstan in these patients. METHODS: The medical records of 84 patients recruited by the national expert-consulting board based at the national multidisciplinary centre of reference in neuro-muscular disorders in Astana, Kazakhstan, have been ascertained for the study. The national expert committee meets monthly to decide over the prescription of disease-modifying therapies in paediatric neuromuscular disorders. Data on the age of disease onset, the age at genetic testing, spectrum of genetic variants, the stage of disease and the serum CK levels have been collected.ResultsThe mean age of 84 examined patients was 10 years. In Kazakhstan, the average age of disease manifestation was 3 years and 3 months. The vast majority of patients passed through genetic test due to the clinical manifestations. The average age of genetic confirmation was 7 years and 6 months. There were 58,33%of gross variations, of which 55,95%were deletions and 2,38%were duplications. Nonsense mutations were identified in 29,7%. CONCLUSION: The authors contend that strictly keeping the clinical guides in the diagnosis of DMD is essential, as the genetic variations may affect the stage and feasibility of novel therapies. The way of management of neuro-muscular diseases used in Kazakhstan is strictly recommended for implementation in developing countries.

Stress, anxiety and depression in parents of children with autism spectrum disorders in Kazakhstan: prevalence and associated factors.

Introduction: Studies worldwide reported increased levels of stress among parents of children with autism due to the unique caregiving challenges. While research has shown that parents' and autistic child's demographics and behavioral characteristics are associated with psychological distress among caregivers of children with autism, very few studies have investigated the impact of the caregiver's unmet needs on various aspects of the perceived family burden. Methods: This cross-sectional study examined the prevalence of stress, anxiety and depressive symptoms among a wide range of 146 parents with different sociodemographic characteristics, social support and unmet needs who care for children with autism spectrum disorder. These parents were recruited from autism non-governmental organizations and the National Children's Rehabilitation Center in Astana, Kazakhstan, a post-Soviet country in Central Asia. Multiple linear regression analyses were utilized to examine the relationship of parental psychological distress variables with social support, unmet needs and parental and child sociodemographic characteristics. Results: Significantly higher levels of stress and depression were reported among parents who perceived their needs as being unmet or extremely unmet as addressed by societal acceptance as compared to parents who reported adequate levels of needs met by social acceptance. Employed parents and parents with a higher level of perceived friends' support had less symptoms of stress, anxiety, and depression. Conclusions: Increasing public awareness about autism and providing early detection and interventions for distressed caregivers of children with autism may be helpful in improving healthy functioning of parents and the entire family.

Autonomic dysfunction syndrome in pregnant women.

Available studies and information on the regulatory effect of the autonomic nervous system (ANS) in pregnancy are insufficient and contradictory due to a variety of research methods of ANS, the lack of a single standardized approach to the assessment of the functional tone of the ANS departments, and interpretation of the results. The aim of the study is investigation and predictive assessment of clinical and laboratory data in pregnant women with suprasegmental autonomic dysfunction with or without hypertension to determine the main directions of effective prevention of the nervous system damage. The material of the study included 206 pregnant women diagnosed with the syndrome of autonomic dysfunction in different variants. Age ranged from 17 to 47 years. All pregnant women had the following laboratory tests: general clinical tests, biochemical blood tests, including prothrombin index, fibrinogen, von Willebrand factor activity. The clinical and laboratory data were analyzed in pregnant women with autonomic dysfunction with or without hypertension. According to the results, it was found that in all groups of pregnant women a sympathetic effect prevails. This study showed that in the group of normotensive pregnant women, the main symptom is venous dysfunction, which poses a risk of an adverse course of cerebrovascular disease.

Pathogenesis of cerebral palsy through the prism of immune regulation of nervous tissue homeostasis: literature review.

BACKGROUND: The cerebral palsy is highly actual issue of pediatrics, causing significant neurological disability. Though the great progress in the neuroscience has been recently achieved, the pathogenesis of cerebral palsy is still poorly understood. METHODS: In this work, we reviewed available experimental and clinical data concerning the role of immune cells in pathogenesis of cerebral palsy. Maintaining of homeostasis in nervous tissue and its transformation in case of periventricular leukomalacia were analyzed. RESULTS: The reviewed data demonstrate involvement of immune regulatory cells in the formation of nervous tissue imbalance and chronicity of inborn brain damage. The supported opinion, that periventricular leukomalacia is not a static phenomenon, but developing process, encourages our optimism about the possibility of its correction. CONCLUSIONS: The further studies of changes of the nervous and immune systems in cerebral palsy are needed to create fundamentally new directions of the specific therapy and individual schemes of rehabilitation.