Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems.
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ABSTRACT:
SUBMITTER: Movaghar A
PROVIDER: S-EPMC8719235 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disability (ID) and autism spectrum disorder (ASD). Many studies have been conducted over the years, however, in Indonesia there is relatively less knowledge on the prevalence of FXS. We reviewed all studies involving FXS screening and cascade testing of the high-risk population in Indonesia for two decades, to elucidate the prevalence, as well as explore the presence of genetic clusters of FXS in Indonesia. The prevalence of FXS in the ID population of Indonesia ranged between 0.9-1.9%, while in the ASD population, the percentage was higher (6.15%). A screening and cascade testing conducted in a small village on Java Island showed a high prevalence of 45% in the ID population, suggesting a genetic cluster. The common ancestry of all affected individuals was suggestive of a founder effect in the region. Routine screening and subsequent cascade testing are essential, especially in cases of ID and ASD of unknown etiology in Indonesia.
| S-EPMC7882090 | biostudies-literature
Project description:We describe a case of a 33-year-old Caucasian woman with right facial asymmetry and no sinonasal symptoms. She was referred to the ophthalmology department as having right palpebral ptosis. On physical examination, she presented painless enophthalmos and hypoglobus of the right eye. The MRI of the brain only showed sinonasal inflammatory signs of the right maxillary sinus. The CT scan revealed opacification of the right maxillary sinus, with retraction of the sinus walls. We confirmed the diagnosis of silent sinus syndrome. The patient underwent functional endoscopic sinus surgery. One year after surgery, despite clinical and aesthetic improvement, slight enophthalmos remained, but there were no other complications. In our case, the diagnosis of facial asymmetry as ptosis led to an initial imaging investigation to exclude neurological causes. Silent sinus syndrome should be included in the differential diagnosis of facial asymmetry. Despite the clinical suspicion, the diagnosis can only be confirmed by imaging studies.
| S-EPMC4693138 | biostudies-other
Project description:Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter therefore silencing it and lowering the expression levels of the fragile X mental retardation 1, a protein involved in synaptic plasticity and maturation. Individuals with FXS present with intellectual disability, autism, hyperactivity, long face, large or prominent ears and macroorchidism at puberty and thereafter. Most of the young children with FXS will present with language delay, sensory hyper arousal and anxiety. Girls are less affected than boys, only 25% have intellectual disability. Given the genomic features of the syndrome, there are patients with a number of triplet repeats between 55 and 200, known as premutation carriers. Most carriers have a normal IQ but some have developmental problems. The diagnosis of FXS has evolved from karyotype with special culture medium, to molecular techniques that are more sensitive and specific including PCR and Southern Blot. During the last decade, the advances in the knowledge of FXS, has led to the development of investigations on pharmaceutical management or targeted treatments for FXS. Minocycline and sertraline have shown efficacy in children.
| S-EPMC4350386 | biostudies-other
Project description:BackgroundHealth systems resilience (HSR) research is a rapidly expanding field, in which key concepts are discussed and theoretical frameworks are emerging with vibrant debate. Fragile and conflict-affected settings (FCAS) are contexts exposed to compounding stressors, for which resilience is an important characteristic. However, only limited evidence has been generated in such settings. We conducted a scoping review to: (a) identify the conceptual frameworks of HSR used in the analysis of shocks and stressors in FCAS; (b) describe the representation of different actors involved in health care governance and service provision in these settings; and (c) identify health systems operations as they relate to absorption, adaptation, and transformation in FCAS.MethodsWe used standard, extensive search methods. The search captured studies published between 2006 and January 2022. We included all peer reviewed and grey literature that adopted a HSR lens in the analysis of health responses to crises. Thematic analysis using both inductive and deductive approaches was conducted, adopting frameworks related to resilience characteristics identified by Kruk et al., and the resilience capacities described by Blanchet et al. RESULTS: Thirty-seven studies met our inclusion criteria. The governance-centred, capacity-oriented framework for HSR emerged as the most frequently used lens of analysis to describe the health responses to conflict and chronic violence specifically. Most studies focused on public health systems' resilience analysis, while the private health sector is only examined in complementarity with the former. Communities are minimally represented, despite their widely acknowledged role in supporting HSR. The documentation of operations enacting HSR in FCAS is focused on absorption and adaptation, while transformation is seldom described. Absorptive, adaptive, and transformative interventions are described across seven different domains: safety and security, society, health system governance, stocks and supplies, built environment, health care workforce, and health care services.ConclusionsOur review findings suggest that the governance-centred framework can be useful to better understand HSR in FCAS. Future HSR research should document adaptive and transformative strategies that advance HSR, particularly in relation to actions intended to promote the safety and security of health systems, the built environment for health, and the adoption of a social justice lens.
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Project description: Not available
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Project description:Roifman syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia, immunodeficiency, and retinal dystrophy. However, very rarely, with only one case reported to date, a patient with Roifman syndrome may develop cardiomyopathy in their lifetime. We reported a case with underdiagnosed Roifman syndrome confirmed by whole genome sequencing, manifested as non-ischaemic cardiomyopathy, which has broadened the association between non-ischaemic cardiomyopathy and the genetic disorder Roifman syndrome. We also underscored that cardiomyopathy might be part of the clinical manifestations of Roifman syndrome and the importance of whole genome sequencing for diagnosis, as RNU4ATAC is not targeted by many commercially available exome capture kits.
| S-EPMC10567627 | biostudies-literature
Project description:BackgroundArrhythmic mitral valve prolapse syndrome (ARMV) is a recognized but underdiagnosed disease pattern. Risk factors for ARMV are established but not very well known, and the association of the structural abnormality with ventricular arrhythmias is incompletely understood.Case summaryHere, we present the case of a young man who presented at our hospital for radiofrequency catheter ablation and mitral valve surgery after two episodes of survived sudden cardiac arrest. We discuss the diagnostic and therapeutic strategies that were used. We shine light on the risk factors for ARMV and why early identification is crucial. We address the topic of primary prevention and its limitations. Finally, we discuss different treatment modalities for patients with ARMV.DiscussionMore awareness for ARMV is crucial. A consensus statement on clinical management exists, but scientific gaps in prospective data for primary prevention need to be filled and there is a need for a better understanding of the pathogenesis of ARMV.
| S-EPMC11328526 | biostudies-literature
Project description:Breastfeeding is associated with numerous health benefits, but early life nutrition has not been specifically studied in the neurodevelopmental disorder fragile X syndrome (FXS). Herein, I evaluate associations between the consumption of breast milk during infancy and the prevalence of autism, allergies, diabetes, gastrointestinal (GI) problems and seizures in FXS. The study design was a retrospective survey of families enrolled in the Fragile X Online Registry and Accessible Research Database (FORWARD). There was a 1.7-fold reduction in the prevalence of autism in FXS participants who were fed breast milk for 12 months or longer. There were strong negative correlations between increased time the infant was fed breast milk and the prevalence of autism and seizures and moderate negative correlations with the prevalence of GI problems and allergies. However, participants reporting GI problems or allergies commenced these comorbidities significantly earlier than those not fed breast milk. Parsing the data by sex indicated that males exclusively fed breast milk exhibited decreased prevalence of GI problems and allergies. These data suggest that long-term or exclusive use of breast milk is associated with reduced prevalence of key comorbidities in FXS, although breast milk is associated with the earlier development of GI problems and allergies.
| S-EPMC8225095 | biostudies-literature
Project description:Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.
| S-EPMC5552528 | biostudies-other
Project description:ObjectiveChildren and adolescents, who have less developed coping skills, are affected by natural disasters and other traumatic events differently than adults. Emotional and behavioral effects are particularly pronounced during a pandemic-related disaster, when support networks that typically promote healthy coping, such as friends, teachers, and family members, may be less available. Children and adolescents with fragile X syndrome (FXS), who are at increased risk for developing anxiety and depression, may be particularly vulnerable to behavioral or emotional difficulties during a pandemic. This study examined the mental health outcomes of school-aged girls with FXS during the COVID-19 pandemic and associated stay-at-home orders.MethodsParticipants included 47 school-aged girls with FXS and 33 age- and developmentally matched comparison girls. Associations between COVID-19 behavioral and emotional outcomes and prior academic, adaptive, behavioral, and emotional functioning as well as prior maternal mental health and characteristics of the mother-child relationship were examined. Qualitative data from the parental report of emotional and behavioral responses to the pandemic were also obtained.ResultsResults indicate that school-aged girls with FXS demonstrate a distinct profile of COVID-19 related associations compared to the comparison group, such that pandemic-related worries and emotional impact of pandemic restrictions were predicted by prior mental health factors for the comparison group but by prior social, behavioral, and relational factors for the FXS group.ConclusionsFindings provide insight into factors that may confer risk or resilience for youth with special needs, suggesting potential therapeutic targets and informing public health initiatives in response to the pandemic.
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