General movement assessment efficacy for assessment of nervous system integrity in children after hypoxic-ischemic encephalopathy in middle income countries.

BACKGROUND: Many infants who survive hypoxic-ischemic encephalopathy (HIE) face long-term complications like epilepsy, cerebral palsy, and developmental delays. Detecting and forecasting developmental issues in high-risk infants is critical. AIM: This study aims to assess the effectiveness of standardized General Movements Assessment (GMA) and Hammersmith Infant Neurological Examinations (HINE) in identifying nervous system damage and predicting neurological outcomes in infants with HIE. DESIGN: Prospective. SUBJECTS AND MEASURES: We examined full-term newborns with perinatal asphyxia, classifying them as Grade 2 HIE according to Sarnat and Sarnat. The study included 31 infants, with 14 (45.2 %) receiving therapeutic hypothermia (Group 1) and 17 (54.8 %) not (Group 2). We evaluated general movements during writhing and fidgety phases and conducted neurological assessments using the HINE. RESULTS: All infants exhibited cramped-synchronized - like movements, leading to cerebral palsy (CP) diagnosis. Three children in Group 1 and four in Group 2 lacked fidgety movements. During active movements, HINE and GMA showed high sensitivity and specificity, reaching 96 % and 100 % for all children. The ROC curve's area under the curve (AUC) was 0.978. CONCLUSION: Our study affirms HINE and GMA as effective tools for predicting CP in HIE-affected children. GMA exhibits higher sensitivity and specificity during fidgety movements. However, study limitations include a small sample size and data from a single medical institution, necessitating further research.

General movements assessment: A bibliometric analysis.

This bibliometric analysis provides an in-depth exploration of the scholarly landscape in the field of Prechtl General Movement Assessment (GMA) research, spanning the period from 1961 to 2023. It offers valuable insights into the evolutionary trajectory and global impact of GMA. The study employs a longitudinal approach, meticulously tracking trends in scholarly output, international collaborations, and authorship patterns. Notably, our findings reveal a significant increase in GMA-related publications, highlighting the growing prominence of this field. The dominance of Australia and Austria in scholarly contributions underscores their pivotal roles. International collaborations are prominent, with active participation from European nations and the Americas. However, it is essential to acknowledge certain limitations, including potential data source biases and a reliance on English-language publications. This analysis serves as a valuable resource for stakeholders in the field, emphasizing the need for ongoing evaluation and collaborative efforts to enhance GMA applications and further our understanding of its clinical implications.

Preloaded combination nicotine replacement therapy for smoking cessation in Kazakhstan: A randomized controlled trial study protocol.

BACKGROUND: Tobacco use is a major cause of premature death and disease in Kazakhstan, with over 22,500 deaths per year. Although efforts have been made to control tobacco use, smoking-related deaths have continued to increase. One strategy to help smokers quit is to use nicotine replacement therapy (NRT), with combination NRT resulting in higher long-term quit rates than a single form of NRT. A study aims to determine the effectiveness of preloaded combination NRT on smoking cessation, the change in health-related quality of life due to smoking cessation, and explore treatment adherence perceptions. METHODS AND ANALYSIS: The study will be conducted as a randomized, single-blind superiority trial, with 100 participants in each arm. The trial will be carried out at the National Research Cardiac Surgery Center, Astana, Kazakhstan, and will recruit current smokers aged 18 years and above with a motivation to quit. Participants will be randomly allocated to either the intervention group or the control group. The former will receive preloaded combination NRT, while the latter will receive fast-acting NRT alone. The primary outcome measure will be sustained abstinence from smoking after six months. Secondary outcome measures will include health-related quality of life and adherence to the treatment. DISCUSSION: The study may gather further evidence that a combination NRT is more efficient than a fast-acting NRT alone. The findings of this study may help to improve tobacco cessation strategies in Kazakhstan and other countries with high smoking prevalence rates. TRIAL REGISTRATION NUMBER: NCT05484505.

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.

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disease resulting from mutations in the NTRK1 gene encoding the neurotrophic tyrosine kinase-1 receptor. In this multicenter observational retrospective study, we investigated CIPA patients identified from French laboratories sequencing the NTRK1 gene, and seven patients were identified. Patients originated from France (2), Suriname (2), Mali (1), Kazakhstan (1), and Algeria (1). Mean age of patients was 9.8 years (4-20), four patients were female (57%), infant developmental milestones were delayed in four cases (57%), and four patients had a family history of consanguinity (57%). Mean age at diagnosis was 4.8 months (3-6), and all patients presented with pain insensitivity, anhidrosis, intellectual disability, self-mutilation, febrile episodes, impaired temperature perception, and autonomous nervous system impairment. Patients also showed an assortment of associated findings, including hyperactivity (86%), emotional lability (86%), joint deformities (71%), bone fractures (57%), abnormal sense of touch, vibration and position (50%), skin, hair and nails abnormalities (28%), and hypothermia episodes (28%). Two patients died at age 9 and 12 years from infection. In three cases, nerve conduction studies showed absent lower limbs sensory nerve action potentials. In one case, sensory nerve biopsy showed complete absence of unmyelinated fibers. Nine NTRK1 pathogenic variants were found, including three newly described mutations. This nationwide study confirms that NTRK1 gene-related CIPA is an extremely rare disorder and expands the genotypic spectrum of NTRK1 mutations.

Genomic Investigation of Infantile and Childhood Epileptic Encephalopathies in Kazakhstan: An Urgent Priority.

Objectives: Infantile and childhood epileptic encephalopathies are a group of severe epilepsies that begin within the first year of life and often portend increased morbidity. Many of them are genetically determined. The medical strategy for their management depends on the genetic cause. There are no facilities for genetic testing of children in Kazakhstan but we have a collection of data with already defined genes responsible for clinical presentations. Methods: We analyzed children with epileptic encephalopathies that began in the first 3 years of life and were accompanied by a delay/arrest of intellectual development, in the absence of structural changes in the brain. Such patients were recommended to undergo genetic testing using epileptic genetic panels in laboratories in different countries. Results: We observed 350 infants with clinical presentation of epileptic encephalopathies. 4.3% of them followed our recommendations and underwent genetic testing privately. In total 12/15 children became eligible for targeted treatment, 3/15 were likely to have non-epileptic stereotypies/movements, 2/15 were unlikely to respond to any therapy and all had a high chance of intellectual disability, behavioral and social communication disorders. Conclusion: The genetic results of 15/350 (4.3% of patients) have demonstrated the potential and enormous impact from gene panel analysis in management of epileptic encephalopathy. Availability of genetic testing within the country will improve management of children with genetic epilepsies and help to create a local database of pathogenic variants.

Changes in Prehospital Stroke Care and Stroke Mimic Patterns during the COVID-19 Lockdown.

The impact of COVID-19 lockdown on prehospital stroke care is largely unknown. We aimed to compare stroke care patterns before and during a state-wide lockdown. Thus, we analysed prospective data of stroke alerts referred to our stroke centre between 1 December 2019 and 16 June 2020, and compared them between two periods-15 weeks before and 13 weeks during the state-wide lockdown declared in Lithuania on 16 March 2020. Among 719 referrals for suspected stroke, there was a decrease in stroke alerts (rate ratio 0.61, 95% CI (0.52-0.71)), stroke admissions (0.63, 95% CI (0.52-0.76)), and decrease in prehospital stroke triage quality (positive predictive value 72.1% vs. 79.9%, p = 0.042) during the lockdown. The onset-to-door time was longer (153.0 vs. 120.5 min, p = 0.049) and seizures and intracranial tumours were more common among stroke mimics (16.9% vs. 6.7%, p = 0.012 and 9.6% vs. 3.0%, p = 0.037, respectively). We conclude that there was a decline in prehospital stroke triage quality during the lockdown despite low COVID-19 incidence in the country. Moreover, we observed an increase in hospital arrival delays and severe conditions presenting as stroke mimics. Our findings suggest that improved strategies are required to maintain optimal neurological care during public health emergencies.