Early Detection Of Development Research Articles

Latest Developments in Early Detection and Effective Treatment of Cancer: A Meeting Report.

Despite a lower estimated rate of cancer incidence in Iran compared to the global average, the trend is unfortunately increasing. This necessitates the implementation of early detection of cancer and targeted therapies to effectively treat various types of cancer. Therefore, the 5th "International Royan Cancer Conference: From Bench to Bedside" was held to focus on critical cancer-related aspects such as gene- and cell therapy, immunotherapy, oligonucleotides in cancer treatment, biosensors for detection, and drug delivery. The 2-day conference took place in February 2024 at the Royan Institute, Tehran. This collaborative effort brought together experts from both basic and clinical research fields. The primary objective of the conference was to address clinical challenges and harness the potential of basic sciences for early cancer diagnosis and treatment, with a robust emphasis on ethical considerations. The conference aimed to ensure optimal patient care while advancing scientific understanding in the field and facilitating effective research collaborations among researchers and enthusiasts dedicated to combating cancer.

Lectins as versatile tools to explore cellular glycosylation.

Lectins are naturally occurring carbohydrate-binding proteins that are ubiquitous in nature and highly selective for their, often incompletely characterised, binding partners. From their discovery in the late 1880s to the present day, they have provided a broad palette of versatile tools for exploring the glycosylation of cells and tissues and for uncovering the myriad functions of glycosylation in biological systems. The technique of lectin histochemistry, used to map the glycosylation of tissues, has been instrumental in revealing the changing profile of cellular glycosylation in development, health and disease. It has been especially enlightening in revealing fundamental alterations in cellular glycosylation that accompany cancer development and metastasis, and has facilitated the identification of glycosylated biomarkers that can predict prognosis and may have utility in development of early detection and screening, Moreover, it has led to insights into the functional role of glycosylation in healthy tissues and in the processes underlying disease. Recent advances in biotechnology mean that our understanding of the precise binding partners of lectins is improving and an ever-wider range of lectins are available, including recombinant human lectins and lectins with enhanced, engineered properties. Moreover, use of traditional histochemistry to support a broad range of cutting-edge technologies and the development of high throughout microarray platforms opens the way for ever more sophisticated mapping - and understanding - of the glycome.

Profile of child development in Kebon Pala, east Jakarta 2021

Background: Development is the increase in functional abilities that are more complex in aspects of gross, fine motor, language, speech and social independence. According to UNICEF in 2012, the prevalence of children with growth retardation was as high as 3 million or 27.5% of Indonesian children. Objective of this study was to find out the description of the development of children aged 0-72 months in Kebon Pala village, Makasar district, east Jakarta through early detection of development using the developmental pre-screening questionnaire (KPSP) form. Methods: This research belongs to the type of descriptive research design, which is a research method that serves to provide an overview of an object that is examined through samples collected without being analyzed and made general conclusions in September 2021-January 2022 located in the RW 011 Kebon village, Pala, Makassar district, east Jakarta. Results: Of the 96 children involved in the examination, 77 children (80.2%) with appropriate results, 12 children (12.5%) were suspected delayed development and 7 children (7.3%) facing delayed development. Conclusions: The development of children in RW 11, Kelurahan Kebon Pala, Makasar district, east Jakarta is dominated by the normal category, but still, the suspected and confirmed delayed development children were considerably high.

Autisme de Kanner, syndrome d’Asperger : une genèse de leur opposition

ObjectiveDespite the reunification of the two diagnostic entities that are Kanner's autism and Asperger's syndrome within the autism spectrum disorder, an opposition persists making one as representing the lower part of the spectrum, the other the upper part. We propose to update this perception of an opposition between these two disorders based on an analysis of the original documents. MethodWe will review the original articles that named the two troubles, Kanner's 1943 article and Wing's 1981 article, and analyze their differences, commonalities, and the socio-historical context of their elaboration. ResultsRegarding the 11 clinical cases described by Kanner, we can observe that some clinical cases noted by the latter could correspond to cases of high-functioning autism. Regarding Lorna Wing's article, she tends to demonstrate the uselessness of maintaining the difference between the two syndromes. DiscussionThe socio-historical context of the different eras, 1943, 1981, and the present, impacts the way people are viewed and their disorder. That of Asperger, i.e. the Nazi regime, not taken into consideration by Wing at the time of her research, particularly influenced the constitution of the disorder, pulling it towards the top and towards “normality,” while people too handicapped by the symptoms were most often euthanized. Nowadays, the modification of the diagnosis of mental retardation in intellectual and social deficiency, as well as the development of early detection, supports the diagnosis of Kanner's autism. ConclusionIt would seem that this opposition of the two syndromes is more the result of the different socio-cultural contexts that built them than a clinical reality. The dissensions that characterize the field of autism constitute a form of splitting, of which the opposition of these two syndromes could be one of the manifestations. It also manifests itself in the opposition of the behaviors of Kanner and Asperger, one oriented towards the parents, the other towards the patients themselves. It would be interesting, beyond the clinical and scientific data, to question the foundations of these intense splits that persist, regardless of the historical moment.

Dialogue Based Early Detection-Development of a Novel Approach for Detection of Mental Health Problems Among Children in Daycare Centers.

BackgroundAmong 1–7 years old children the worldwide prevalence of mental disorders is ~20%. Without treatment, the prognosis of such disorders in children is poor. Early intervention is estimated to result in a positive return. However, traditional screening to detect children at need is particularly challenging due to the concerns by false positives. The aim of the current study was to develop a more acceptable though effective method using the existing annual evaluation meetings between parents and teachers in a more systematic and goal directed way. The method should build on the teacher's and parents' complementary knowledge and perception of the child, and fit into the everyday routines in daycare centers.MethodDuring a period of 6 years, a developmental process aiming for a novel screening method was carried out in cooperation with eight Norwegian daycare centers. After conception of the idea, the framework of the Dialogue Based Early Detection including the first version of the Early Worry Questionnaire (EWQ) was constructed. An iterative process involving parents and teachers completing workshops and subsequent testing facilitated a re-modeling of the method.ResultsIn the resulting Dialogue Based Early Detection a 36-item version of EWQ was completed by both parents and teachers ahead of the annual parent-teacher meeting. During that meeting the participants should try to reach a consensus whether there was a concern, some uncertainty, or no worry for the child, and which appropriate actions should be taken for a possible follow up. Both parents and teachers reported that the EWQ supported them in verbalizing already existing worries for the child. Teachers reported that parents were better prepared and participated more actively in the evaluation meetings. However, some parents complained that there was too much focus on possible worries. During the testing, challenges of language development, conduct, emotional reactions, toileting, attention, and eating were detected among the children.ConclusionThe Dialogue Based Early Detection method was endorsed by both teachers and parents and holds promise as a tool for improving early awareness and identification of developmental and mental health problems of preschool children in daycare centers.

Parents' experiences of living with a child with Paediatric Feeding Disorder: An interview study in Sweden.

Children affected by Paediatric Feeding Disorder (PFD) cannot consume enough nourishment by mouth. PFD is highly prevalent and can affect the child's growth and development as well as family life. To illuminate Swedish parents' experiences of living with a child with PFD. Semi-structured interviews via telephone or video calls were conducted with 14 purposefully recruited mothers and six fathers. The interviews were analysed using content analysis. Ethics approval was obtained, and the parents all gave informed consent. Four overarching themes emerged: Living with stress; Advocating for the child;Adapting family life; andGaining hope. Parents described fearing for their child's life and health, feeling pressure over meals and being emotionally affected. They told of experiencing a lack of understanding from healthcare professionals, friends and family. Parents expressed a struggle for help, the need for early interventions and more effective treatment, and developed strategies for coping with the demands of feeding and caring for their child, accepting their living reality. Finding support from a network helped, but the adaptation of daily life affected their family relations. They felt gratitude towards helpful professionals and relief and joy when their child was doing better. A more cohesive chain of care is important for children with PFD, and guidelines and educational support for healthcare providers are needed. Parental experiences provide a base for knowledge for further development of early detection and intervention for children with PFD.

THE RELATIONSHIP BETWEEN PARENTING STYLE AND CHILDREN'S DEVELOPMENT AGED PRE-SCHOOL

Background: Development is related to the increase in the structure of bodily functions which Include tge ability of gross and fine motor skill, languange, and socializationand independence. One of the factors that influence a child's development is parenting, which is the pattern of interaction between parents and children. Early detection of development needs to be done in order to know deviations in development. Method: This research method used an observational analytic cross-sectional study design. The number of samples was 69 toddlers with a sampling technique using purposive sampling. The independent variable is parenting and the dependent variable is child development. The instruments used were parenting questionnaire and child development questionnaire, namely KPSP. Data analysis technique used was the spearman with α = 0.05 and the analysis of the closeness of the two relationships using correlation coefficient. Results: The results showed that there were 33.3% of respondents with permissive parenting had developmental status in accordance with or normal with their age, parents with democratic parenting also had 53.7% of respondents whose development was in accordance with or normal with their age, while authoritarian parenting there are 40.0% of respondents who are appropriate or normal for their age. Spearmen test results are known for each parenting, namely permissive parenting with p value 0.928, democratic parenting with p value 0.023, and authoritarian parenting with p value 0.420. Conclusion: the data shows that there is a relationship between parenting and developmental patterns, those are democratic parenting and permissive parenting.Keywords: child development, parenting, toddlers

A system for monitoring a marine well for shallow water flow: Development of early detection

Deepwater basins around the world contain shallow sequences of overpressured, sand-prone sediments that can result in shallow water flow (SWF) events. These events have frequently resulted in wellbore instability and increased man-hour exposure to potential health, safety, security, and environment risks, as well as nonproductive time, and they have sometimes been the cause of the loss of a well while drilling the shallow (riserless) section for oil and gas exploration or development projects. Methods previously established to classify the magnitude of an SWF event have been used with partial success to identify the onset of an SWF event. The need existed to develop a system enabling early prediction, detection, and mitigation of SWF events while drilling. Real-time monitoring of the riserless section of a marine well for SWF requires a system using a plurality of data feeds that we defined as the SYSTEM. The data feeds include seismic data, remotely operated vehicle video, and surface and downhole logging measurements. An SWF surveillance methodology, which we defined as a discharge category model (DCM), has been developed for early detection of an SWF event, prior to the onset of wellbore instability. DCM focuses on baseline discharge categories (ranging from no flow to minor flow) prior to wellbore instability and taking into account the U-tube effects. Real-time monitoring of data feeds coupled with DCM in the context of SYSTEM has helped to mitigate SWF events. There have been no wells lost due to SWF events that have used DCM in the context of SYSTEM in various basins throughout the world. In total, 154 wells have been monitored globally using DCM with 46 SWF events detected and mitigated before reaching a severity level that might compromise well integrity from 2012 to 2019.

Demographic and Psychosocial Factors Associated With Child Sexual Exploitation

Although research has examined factors associated with child sexual exploitation (CSE), consensus is lacking in regard to which factors should be prioritized, thereby hindering policy reform, prevention efforts, and development of early detection and intervention. To provide a meta-analytic synthesis of studies examining factors associated with CSE and to quantify their relative importance. Electronic databases searched to June 2019 included Medline, PsycINFO, the Cumulative Index to Nursing and Allied Health Literature, EMBASE, and Informit, yielding 396 nonduplicative records. Literature search was performed in July 2019. Inclusion criteria were quantitative investigations of sexual exploitation and mean sample age of 18 years or younger. Literature review and data extraction followed Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. Thirty-seven studies met final inclusion criteria. Two independent reviewers extracted all relevant data. Random-effects meta-analyses were used to derive odds ratios (ORs) for each factor. Data were analyzed from September 1 to October 28, 2019, and prediction intervals calculated in June 2020. Child sexual exploitation, defined as coerced sexual acts between a child or a young person (aged ≤18 years) and an individual or a group in exchange for money, gifts, substances, or other commodities and associated factors. Thirty-seven unique studies were included with a total of 67 453 unique participants (mean [SD] age of 16.2 [2.5] years; 49.9% female). Fifty-two factors associated with CSE were included in the meta-analysis. The strongest factors significantly associated with exposure to sexual exploitation were engagement in sexual risk behaviors (OR, 6.31 [95% CI, 3.12-12.76]; P < .001), having more than 5 sexual partners (OR, 5.96 [95% CI, 1.63-21.87]; P = .007), a diagnosis of posttraumatic stress disorder (OR, 5.29 [95% CI, 3.40-8.22]; P < .001), historical exposure to child pornography (OR, 5.50 [95% CI, 0.99-30.53]; P = .049), and a history of childhood sexual abuse (OR, 3.80 [95% CI, 3.19-4.52]; P < .001). A number of other potentially modifiable factors had moderate to strong associations. In this systematic review and meta-analysis, children and adolescents affected by sexual exploitation showed high levels of sexual risk taking, multiple sexual partners, posttraumatic stress disorder, exposure to child pornography, and childhood trauma. Accurate detection of CSE may prevent this type of sexual violence occurring to adolescents and/or provide opportunities for intervention and recovery. Therefore, prevention and intervention efforts will likely benefit from integrating these factors into screening, assessment, and treatment.

Giving Exclusive Breastfeeding and Maternal Gestational Age Affects the Developmental Delay of Children Aged 3-36 Months

Developmental disorders can affect one or more areas of development such as gross motor, fine motor, speaking/using language, and social personality/independence. Factors that influence the development in children can come from internal factors (exclusive breastfeeding, and maternal gestational age) and external factors (maternal age and number of children under five in the family). Early detection of development is very important using the Developmental Pre-Screening Questionnaire or DENVER II. The objective of the study is to identify risk factors that influence delays in the development of children aged 3-36 months. This research is an analytic observational with case control approach. The research location was at Integrated Healthcare Unit, Primary Health Center of Rowosari, Semarang. The total sample of this study was 62 in children aged 3-36 months whose development was analyzed using the Developmental Pre-Screening Questionnaire instrument. The sampling technique used purposive sampling. The variables of this study were exclusive breastfeeding, gestational age, maternal age and the number of children under five in the family. Statistical tests used Chi-Square to analyze the relationship between internal and external factors with the delay in child development. The results show that exclusive breastfeeding (p=0.042) and gestational age (p=0.042) have a significant relationship with the development of children aged 3-36 months, while maternal age factors during pregnancy (p=0.425) and number of children under five (p=0,353) have no significant relationship. Thus, internal factors such as exclusive breastfeeding and maternal gestational age affect the developmental delay of children aged 3-36 months.

Neuroscience-based technology development for early detection and diagnosis of posttraumatic syndrome

Neuroscience-based technology development for early detection and diagnosis of posttraumatic syndrome

PKM : Pelatihan Stimulasi Deteksi Dini Perkembangan Dalam Rangka Optimalisasi Tumbuh Kembang Anak Balita

The success of development is closely related to the quality of good human resources. Establishment of optimal quality of human resources, both physically and psychologically is very dependent on the process of growing and developing at an early age. Monitoring the growth and development of children that is carried out appropriately and directed guarantees more optimal growth and development of children that makes children of high quality, intelligent, responsible and efficient for the nation and the nation. Based on the results of observations, the Posyandu of Beji Sidoarum has been limited to growth checks only in the implementation of posyandu related to growth, namely weighing and measuring height. Development checks have never been carried out because of the limitations of cadres and not every month the puskesmas midwives conduct health checks at the posyandu. There has never been a Posyandu health cadre who participated in the early growth growth stimulation and intervention training. Therefore, increasing education for cadres related to growth and development is needed to improve the quantity and quality of services at this posyandu. Outputs produced are 1) Compilation of booklets/modules as information media, 2) results of examination of fallen children under five, 3) Ability of cadres and mothers of children under five in stimulation and early detection of development using KPSP, 4) publication. The results obtained by cadres and mothers of children under five in carrying out stimulation and early detection using KPSP independently. Based on this, it is expected that the implementation of activities for monitoring the growth of children under five can run routinely at the posyandu.Keywords: early detection, training, stimulation, growth and development

Scattering-Induced Absorption Acts as a Cancer Treatment Monitor

Uncontrolled growth of ovarian cancer cells is the fifth leading cause of female cancer deaths. Here, we describe the role of scattering-induced absorption in monitoring the cancer treatment efficiency in real-time. We measure the optical interaction between the evanescent fields of microfiber and ovarian cancer inter-cellular medium at different treatment stages. By introducing the roughness of silica glass, we demonstrate that the treatment of tumor cells with GDC0032, a beta-sparing PI3K, induces both cells growth arrest and alter the spectral lines in a dose-dependent manner. The data support observed affected tumor cells with decrease in proliferation and their spatial distribution. Spectral absorption signatures are correlated with optical micrographs and western blot tests. These observations are mediated by surface scatterers out of silica glass material, form an essential step toward the development of early detection of response to cancer therapy.

Progress and challenges in early intervention of autism spectrum disorder in China

Autism spectrum disorder (ASD) is a neurodevelopmental disorder whose prevalence has increased rapidly in recent decades. Advances in the fields of intervention for ASD have contributed to a more optimistic outcome for children with ASD. Furthermore, the development of early detection, screening, and diagnosis has highlighted the importance of early intervention for young children with ASD. The present article reviews commonly used intervention approaches for children with ASD in China, including recently introduced approaches and originally developed Chinese models for early intervention, and then briefly summarizes the progress and challenges of intervention in combination with associated services and supports.

Disorganized Gut Microbiome Contributed to Liver Cirrhosis Progression: A Meta-Omics-Based Study.

Early detection and effective interventions for liver cirrhosis (LC) remain an urgent unmet clinical need. Inspired from intestinal disorders in LC patients, we investigated the associations between gut microbiome and disease progression based on a raw metagenomic dataset of 47 healthy controls, 49 compensated, and 46 decompensated LC patients from our previous study, and a metabolomic dataset of urine samples from the same controls/patients using ultra-performance liquid chromatography/mass spectrophotometry system. It was found that the combination and relative abundance of gut microbiome, the inter-microbiome regulatory networks, and the microbiome-host correlation patterns varied during disease progression. The significant reduction of bacteria involved in fermentation of plant cell wall polysaccharides and resistant starch (such as Alistipes sp. HG5, Clostridium thermocellum) contributed to the reduced supply of energy sources, the disorganized self-feeding and cross-feeding networks and the thriving of some opportunistic pathogens in genus Veillonella. The marked decrease of butyrate-producing bacteria and increase of Ruminococcus gnavus implicated in degradation of elements from the mucus layer provided an explanation for the impaired intestinal barrier function and systematic inflammation in LC patients. Our results pave the way for further developments in early detection and intervention of LC targeting on gut microbiome.

Evolution into Takayasu arteritis in a patient presenting with acute pulmonary oedema due to severe aortic regurgitation; a case report

BackgroundTakayasu arteritis is a rare large vessel vasculitis which predominantly affects young Asian females. Aortic regurgitation and heart failure are well described manifestations which are usually preceded by constitutional symptoms, limb claudication, pulse and blood pressure discrepancies, vascular bruits and features of organ ischaemia.Case presentationA 25-year- old Sri Lankan female presented with a three days history of acute shortness of breath, cough and orthopnoea. On examination she had severe aortic regurgitation resulting in high output cardiac failure. There was no evidence of acute coronary ischaemia or infective endocarditis. The only significant investigation finding was an elevated erythrocyte sedimentation rate (ESR) of 114 mm/first hour. The patient was treated for pulmonary oedema and empirically for infective endocarditis. Extensive evaluation for an underlying infection, large vessel vasculitis or malignancy did not reveal any abnormalities. Detailed periodic assessment identified reduced blood pressure in left arm (70/40 mmHg) compared to right (100/70 mmHg) and reduced pulse volume of left arm with left subclavian bruit more than one year after the initial presentation. Digital subtraction angiography revealed significant stenosis at first part of left subclavian and origin of left vertebral arteries. A diagnosis of Takayasu arteritis was made and patient was started on high dose glucocorticoids.ConclusionsTakayasu arteritis can present initially with isolated cardiac involvement even as acute cardiac manifestations and high degree of suspicion with close follow up would allow early detection of development of other classic features and timely diagnosis.

Potential Diagnostic and Therapeutic Applications of Oligonucleotide Aptamers in Breast Cancer.

Breast cancer is one of the most common causes of cancer related deaths in women. Currently, with the development of early detection, increased social awareness and kinds of treatment options, survival rate has improved in nearly every type of breast cancer patients. However, about one third patients still have increased chances of recurrence within five years and the five-year relative survival rate in patients with metastasis is less than 30%. Breast cancer contains multiple subtypes. Each subtype could cause distinct clinical outcomes and systemic interventions. Thereby, new targeted therapies are of particular importance to solve this major clinical problem. Aptamers, often termed “chemical antibodies”, are functionally similar to antibodies and have demonstrated their superiority of recognizing target with high selectivity, affinity and stability. With these intrinsic properties, aptamers have been widely studied in cancer biology and some are in clinical trials. In this review, we will firstly discuss about the global impacts and mechanisms of breast cancer, then briefly highlight applications of aptamers that have been developed for breast cancer and finally summarize various challenges in clinical translation of aptamers.

Abstract P6-01-18: Early detection of development of a pre-metastatic niche in lungs in response to primary breast tumor using Raman spectroscopy

Abstract Background: An alarmingly large proportion of cancer-related deaths result from metastatic cancers. Development of quick, reliable and non-invasive or minimally invasive approaches to objectively assess the secondary tissues (potentially in vivo) will be instrumental in substantially reducing the cancer burden due to metastasis, which accounts for majority of cancer related mortality. In our study we report the utilization of Raman spectroscopy and chemometric techniques in identifying formation of pre-metastatic niche in lungs prior to observing morphological changes. Methods: Six-week-old female athymic nu/nu mice (NCI, MD) were implanted with 2x106 cells of human breast cancer cell lines - MDA-MB-231 (n=3), and MCF-7 (n=3) in their fourth right mammary fat pad orthotopically. And control mice (n=3) without tumor cell implantation were also employed. The primary tumor size was monitored and the mice were sacrificed within 8-12 weeks of cell implantation when the primary tumors volume grew to 500-600 mm3. Control mice were also sacrificed in this timeframe. The freshly excised lungs of the mice were cleaned in PBS and utilized for obtaining Raman spectra (830 nm, thermoelectrically cooled CCD). Each tissue was collected from multiple points. Principal component analysis (PCA) and Partial least squares discriminant analysis (PLS-DA) were employed as discriminating algorithm. Following spectral acquisition, the tissues were fixed in 10% formalin, embedded in paraffin, and then HE staining, and Masson's trichrome staining for collagen. Collagen quantification of Masson's trichrome stained slides was achieved using MATLAB (Mathworks, MA). The Institutional Animal Care and Use Committee at Johns Hopkins University School of Medicine approved the protocol of the study. Results: 900 Raman spectra each acquired from the lungs of the control mice and mice bearing MCF-7 and MDA-MB-231 tumor xenografts were assigned class labels - 'Control', 'MCL' and 'MDL' respectively for further analysis. Select principal components from those obtained by subjecting all the chosen 900 spectra to PCA clearly evident that the differences in the Raman spectra belonging to tissues being primed by derivatives of different primary cells are quite pronounced. The average correct rates of PLS-DA prediction of 90.1%, 97.7% and 78.4% were obtained for the spectra belonging to the classes - Control, MCL and MDL respectively. The HE images are negative for any signs of cancerous lesions. Masson's trichrome staining results show that the metastatic potential of the cell lines responsible for the primary tumor is positively correlated with the collagen density in the pre-metastatic niche, the MDL shows the highest collagen density (P&amp;lt;0.001). These differences clearly indicate the remodeling of extracellular matrix anticipating incoming tumor cells in response to primary tumor derived factors occurs very early in the metastatic cascade. Conclusion: The current study introduces Raman spectroscopy in conjunction with chemometric techniques as are liable and minimally invasive tool for diagnosis of metastatic cancers significantly early in the metastatic cascade, and also opens a new route for early targeting of cancer metastasis and its associated burden. Citation Format: Zheng C, Rizwan A, Paidi SK, Yu Z, Barman I, Glunde K. Early detection of development of a pre-metastatic niche in lungs in response to primary breast tumor using Raman spectroscopy [abstract]. In: Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2017;77(4 Suppl):Abstract nr P6-01-18.

Abstract IA16: Current and emerging molecular diagnostic assays for colorectal cancer

Abstract IA16: Current and emerging molecular diagnostic assays for colorectal cancer

Spinal Muscular Dystrophy - a Revisit of the Diagnosis and Treatment Modalities

Spinal Muscular Atrophy (SMA) is a pan-ethnic disorder and generally characterized as prevalent lethal genetic disease of infants. It is an autosomal recessive neuromuscular disease caused by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Due to the high carrier frequency (1:50), the burden of this genetic disorder is very heavy in developing countries. Till date no absolute cure or effective treatment of the disease is available in clinical practice, whereas minor enhancement of SMN protein levels can be beneficial. It can be achieved by augmenting SMN2 transcription, stimulating exon 7 splicing and protein stabilization. Due to its low prevalence among population, costly screening and diagnosis, the disease is still lacking proper management. SMN is expressed almost in all tissues of body, still the reason why only lower motor neurons are affected in SMA is unknown. Research is still going on and with advancement of innovative therapies and gene modification, improved outcome may come in near future. Presently, supportive care including respiratory, nutritional, psychiatric and orthopaedic management can ameliorate clinical symptoms and improve survival rates if SMA is diagnosed early in life. Routine prenatal and new-born screening can help with potential benefits and timely management. In this review, the concept of newer methodological system and recent advances for molecular diagnosis of SMA with the variability in the clinical features is stressed. The public health community should remain alert to the rapidly changing developments in early detection and treatment of SMA.