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Neurological Sciences : Official... Sep 2023Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common... (Review)
Review
BACKGROUND AND AIMS
Mutations in FDXR gene, involved in mitochondrial pathway, cause a rare recessive neurological disorder with variable severity of phenotypes. The most common presentation includes optic and/or auditory neuropathy, variably associated to developmental delay or regression, global hypotonia, pyramidal, cerebellar signs, and seizures. The review of clinical findings in previously described cases from literature reveals also a significant incidence of sensorimotor peripheral polyneuropathy (22.72%) and ataxia (43.18%). To date, 44 patients with FDXR mutations have been reported. We describe here on two new patients, siblings, who presented with a quite different phenotype compared to previously described patients.
METHODS
Clinical, neurophysiological, and genetic features of two siblings and a systematic literature review focused on the clinical spectrum of the disease are described.
RESULTS
Both patients presented with an acute-sub-acute onset of peripheral neuropathy and only in later stages of the disease developed the typical features of FDXR-associated disease.
INTERPRETATION
The peculiar clinical presentation at onset and the evolution of the disease in our patients and in some cases revised from the literature shed lights on a new possible phenotype of FDXR-associated disease: a peripheral neuropathy which can mimic an acute inflammatory disease.
Topics: Humans; Ataxia; Cerebellar Ataxia; Diagnosis, Differential; Mutation; Peripheral Nervous System Diseases; Phenotype; Ferredoxin-NADP Reductase
PubMed: 37046037
DOI: 10.1007/s10072-023-06790-0 -
Campbell Systematic Reviews Dec 2022The consequences for children born with birth defects and developmental disabilities encompassed by foetal alcohol spectrum disorder (FASD) are profound, affecting all... (Review)
Review
BACKGROUND
The consequences for children born with birth defects and developmental disabilities encompassed by foetal alcohol spectrum disorder (FASD) are profound, affecting all areas of social, behavioural and cognitive functioning. Given the strong evidence for a core deficit in executive functioning, underpinned by impaired self-regulation skills, there has been a growing focus on the development of interventions that enhance or support the development of executive functions (EFs).
OBJECTIVES
The primary objective of this review is to synthesise the evidence for structured psychological interventions that explicitly aim to improve EF in children. The review also sought to ascertain if the effectiveness of interventions were influenced by characteristics of the intervention, participants or type of EF targeted by the intervention.
SEARCH METHODS
Sixteen databases, 18 grey literature search locations and 9 trial registries were systematically searched to locate eligible studies (up to December 2020). These searches were supplemented with reference harvesting, forward citation searching, hand searches of topic-relevant journals and contact with experts.
SELECTION CRITERIA
Studies were included in the review if they reported on an impact evaluation of a psychological intervention aiming to improve EF in children 3-16 years who either had confirmed prenatal alcohol exposure or a formal diagnosis falling under the umbrella term of FASDs. Eligible study designs included randomised controlled trials (RCTs) and quasi-experimental designs with either no treatment, wait list control or an alternative treatment as a comparison condition. Single-group pre-post designs were also included.
DATA COLLECTION AND ANALYSIS
Standard methodological procedures expected by the Campbell Collaboration were used at all stages of this review. Standardised mean differences (SMDs) were used to estimate intervention effects, which were combined with random effects meta-analysis (data permitting). Risk of bias was assessed using the Cochrane Risk of Bias Tool (RoB2) and Cochrane Risk of Bias in Non-Randomised Studies-Interventions tool (ROBINS-I).
MAIN RESULTS
The systematic search identified 3820 unique records. After title/abstract and full-text screening, 11 eligible studies (reported in 21 eligible documents) were deemed eligible, with a combined 253 participants. Of the 11 studies, 6 were RCTs, 1 was a quasi-experiment and 4 were single-group pre-post intervention designs. All studies were rated as having an overall high or serious risk of bias, with some variation across domains for RCTs. For RCT and quasi-experimental studies, the overall effect of EF interventions on direct and indirect measures of EF generally favoured the experimental condition, but was not statistically significant. There was no difference between intervention and comparison groups on direct measures of auditory attention ( = 3; SMD = 0.06, 95% confidence interval [CI] = -1.06, 1.18), visual attention ( = 2; SMD = 0.90, 95% CI = -1.41, 3.21), cognitive flexibility ( = 2; SMD = 0.23, 95% CI = -0.40, 0.86), attentional inhibition ( = 2; SMD = 0.04, 95% CI = -0.58, 0.65), response inhibition ( = 3; SMD = 0.47, 95% CI = -0.04, 0.99), or verbal working memory ( = 1; = 0.6827; 95% CI = -0.0196, 1.385). Significant heterogeneity was found across studies on measures of auditory attention and visual attention, but not for measures of cognitive flexibility, attentional inhibition or response inhibition. Available data prohibited further exploration of heterogeneity. There was no statistical difference between intervention and comparison groups on indirect measures of global executive functioning ( = 2; SMD = 0.21, 95% CI = -0.40, 0.82), behavioural regulation ( = 2; SMD = 0.18, 95% CI = -0.43, 0.79), or emotional control ( = 3; SMD = 0.01, 95% CI = -0.33, 0.36). Effect sizes were positive and not significant for meta-cognition ( = 1; SMD = 0.23, 95% CI = -0.72, 1.19), shifting ( = 2; SMD = 0.04, 95% CI = -0.35, 0.43), initiation ( = 1; SMD = 0.04, 95% CI = -0.40, 0.49), monitoring ( = 1; SMD = 0.25, 95% CI = -0.20, 0.70) and organisation of materials ( = 1; SMD = 0.25, 95% CI = -0.19, 0.70). Effect sizes were negative and not statistically different for effortful control ( = 1; SMD = -0.53, 95% CI = -1.50, 0.45), inhibition ( = 2; SMD = -0.08, 95% CI = -0.47, 0.31), working memory ( = 1; SMD = 0.00, 95% CI = -0.45, 0.44), and planning and organisation ( = 1; SMD = -0.10, 95% CI = -0.55, 0.34). No statistically significant heterogeneity was found for any of the syntheses of indirect measures of EF. Based on pre-post single-group designs, there was evidence for small to medium sized improvements in EF based on direct measures (cognitive flexibility, verbal working memory and visual working memory) and indirect measures (behavioural regulation, shifting, inhibition and meta-cognition). However, these results must be interpreted with caution due to high risk of bias.
AUTHORS' CONCLUSIONS
This review found limited and uncertain evidence for the effectiveness of interventions for improving executive functioning in children with FASD across 8 direct and 13 indirect measures of EF. The findings are limited by the small number of high-quality studies that could be synthesised by meta-analysis and the very small sample sizes for the included studies.
PubMed: 36908848
DOI: 10.1002/cl2.1258 -
American Journal of Orthodontics and... May 2023A failure of maxillary incisor eruption is commonly attributed to the presence of a supernumerary tooth. This systematic review aimed to assess the percentage of... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
A failure of maxillary incisor eruption is commonly attributed to the presence of a supernumerary tooth. This systematic review aimed to assess the percentage of impacted maxillary incisors that successfully erupt after surgical removal of supernumerary teeth with or without other interventions.
METHODS
Systematic literature searches without restrictions were undertaken in 8 databases for studies reporting any intervention aimed at facilitating incisor eruption, including surgical removal of the supernumerary alone or in conjunction with additional interventions published up to September 2022. After duplicate study selection, data extraction, and risk of bias assessment according to the risk of bias in nonrandomized studies of interventions and Newcastle-Ottawa scale, random-effects meta-analyses of aggregate data were conducted.
RESULTS
Fifteen studies (14 retrospective and 1 prospective) were included with 1058 participants (68.9% male; mean age, 9.1 years). The pooled eruption prevalence for removal of the supernumerary tooth with space creation or removal of the supernumerary tooth with orthodontic traction was significantly higher at 82.4% (95% confidence interval [CI], 65.5-93.2) and 96.9% (95% CI, 83.8-99.9) respectively, compared with removal of an associated supernumerary only (57.6%; 95% CI, 47.8-67.0). The odds of successful eruption of an impacted maxillary incisor after removal of a supernumerary were more favorable if the obstruction was removed in the deciduous dentition (odds ratio [OR], 0.42; 95% CI, 0.20-0.90; P = 0.02); if the supernumeraries were conical (OR, 2.91; 95% CI, 1.98-4.28; P <0.001); if the incisor was in the correct position (OR, 2.19; 95% CI, 1.14-4.20; P = 0.02), at the level of the gingival third (OR 0.07; 95% CI, <0.01-0.97; P = 0.04) and had incomplete root formation (OR, 9.02; 95% CI, 2.04-39.78; P = 0.004). Delaying removal of the supernumerary tooth 12 months after the expected eruption time of the maxillary incisor (OR, 0.33; 95% CI, 0.10-1.03; P = 0.05) and waiting >6 months for spontaneous eruption after removal of the obstacle (OR, 0.13; 95% CI, 0.03-0.50; P = 0.003) was associated with worse odds for eruption.
CONCLUSIONS
Limited evidence indicated that the adjunctive use of orthodontic measures and removal of supernumerary teeth might be associated with greater odds of successfull impacted incisor eruption than removal of the supernumerary tooth alone. Certain characteristics related to supernumerary type and the position or developmental stage of the incisor may also influence successful eruption after removal of the supernumerary. However, these findings should be viewed with caution as our certainty is very low to low because of bias and heterogeneity. Further well-conducted and reported studies are required. The results of this systematic review have been used to inform and justify the iMAC Trial.
Topics: Humans; Male; Child; Female; Incisor; Tooth, Supernumerary; Retrospective Studies; Prospective Studies; Tooth, Impacted; Tooth Eruption; Maxilla
PubMed: 36907703
DOI: 10.1016/j.ajodo.2023.01.004 -
Research in Developmental Disabilities May 2023Emotional competencies are skills necessary to adequately understand, express, and regulate emotional phenomena. Among the emotional competencies is emotion regulation.... (Review)
Review
BACKGROUND
Emotional competencies are skills necessary to adequately understand, express, and regulate emotional phenomena. Among the emotional competencies is emotion regulation. Not having adequate development of this emotional competence is related to psychological problems such as depression. One of the characteristics of individuals with developmental disabilities is the presence of difficulties with emotion regulation. These difficulties can affect an individual's autonomy, social competence, and the development of independent life.
AIMS
This paper presents a scoping review to identify the technology designed and developed to support the emotion regulation of individuals with developmental disabilities.
METHODS AND PROCEDURES
We combined the guidelines for a systematic literature review in computer science and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. The process resulted in twelve stages through which we conducted this scoping review. First, a search query was defined and executed in computer science's five most representative search engines. We used different inclusion, exclusion, and quality criteria for selecting the works included in this review.
OUTCOMES AND RESULTS
Thirty-nine papers aimed at supporting the emotional competencies of individuals with developmental disabilities were included, of which nine support emotion regulation. As a result, different areas of opportunity in developing technology to support the emotion regulation of individuals with developmental disabilities are discussed.
CONCLUSIONS AND IMPLICATIONS
Technology supporting emotion regulation in individuals with developmental disabilities is a growing but little-explored field. For the literature supporting emotion regulation, we detected opportunities for study. Some of them aimed at investigating whether we could use technologies developed for other emotional competencies to support emotion regulation and how the characteristics of this technology can support individuals with developmental disabilities.
Topics: Child; Humans; Emotional Regulation; Developmental Disabilities
PubMed: 36905781
DOI: 10.1016/j.ridd.2023.104467 -
International Journal of Environmental... Feb 2023Indigenous families tend to move house more often, especially families with young children. However, little is known about the impact of high mobility on children's... (Review)
Review
Indigenous families tend to move house more often, especially families with young children. However, little is known about the impact of high mobility on children's well-being and development. The aim of this systematic review was to examine the relationship between residential mobility and children's health, developmental, and educational outcomes for Australian, Canadian, and New Zealand Indigenous children (0-12 years). Four databases were investigated with pre-determined inclusion and exclusion criteria. The search identified 243 articles after independent screening by two authors. Eight studies assessing four child health outcomes were included, six quantitative and two qualitative. Child health outcomes were classified into four broad categories-physical health, social and emotional behavior, learning and development, and developmental risk. The review identified limited evidence; possible links were identified between high mobility and emotional and behavioral difficulties for younger children. One study identified evidence of a linear relationship between the number of houses a child has lived in since birth and developmental risk. Further research is needed to fully understand the impact of high residential mobility for Indigenous children at different developmental stages. Prioritizing the involvement, collaboration, and empowerment of Indigenous communities and leadership is critical for future research.
Topics: Humans; Child; Child, Preschool; Child Health; New Zealand; Canada; Australia; Learning
PubMed: 36901341
DOI: 10.3390/ijerph20054332 -
EClinicalMedicine Mar 2023Interventions targeting combined sexual and reproductive health, Human Immunodeficiency Virus (HIV) management and mental health care in sub-Saharan Africa (SSA) are...
Mental health and psychosocial interventions integrating sexual and reproductive rights and health, and HIV care and prevention for adolescents and young people (10-24 years) in sub-Saharan Africa: a systematic scoping review.
BACKGROUND
Interventions targeting combined sexual and reproductive health, Human Immunodeficiency Virus (HIV) management and mental health care in sub-Saharan Africa (SSA) are few. There is a need to address common determinants of poor mental, psychosocial and sexual and reproductive health and rights (SRHR) through multimodal and multipronged interventions for adolescents. The main objective of this study was to identify whether and how interventions targeting adolescent SRHR and HIV with a focus on pregnant and parenting adolescents in SSA include mental health components and how these components and their outcomes have been reported in the literature.
METHODS
We carried out a two process scoping review approach between 01.04.2021 and 23.08.2022. In the first stage, we searched the PubMed database to identify studies focusing on adolescents and young people aged 10 to 24 from 2001 to 2021. We identified studies focusing on HIV and SRHR that had mental health and psychosocial aspects to the interventions. Our search yielded 7025 studies. Of these 38 were eligible based on our screening criteria that covered interventions, and on further scrutiny, using PracticeWise, an established coding system, we identified select problems and practices to provide a more granular assessment of how interventions developed for this context mapped on to specific problems. At this second stage process, we selected 27 studies for inclusion as actual interventional designs for further systematic scoping of their findings and we used the Joanna Briggs Quality Appraisal checklist to rate these studies. This review was registered within the International Prospective Register of Systematic Reviews (PROSPERO), number CRD42021234627.
FINDINGS
Our first set of findings is that when coding problems and solutions, mental health concerns were the least common category of problems targeted in these SRHR/HIV interventions; nevertheless, psychoeducation and cognitive behavioral strategies such as improved communication, assertiveness training, and informational support were offered widely. Of the 27 interventional studies included in the final review, 17 RCTs, 7 open trials, and 3 mixed designs, represented nine countries of the 46 countries in SSA. Intervention types included peer, community, family, digital, and mixed modality interventions. Eight interventions focused on caregivers and youth. Social or community ecology associated problems (being an orphan, sexual abuse, homelessness, negative cultural norms) were the most common risk factors and were more frequent than medical issues associated with HIV exposure. Our findings highlight the relevance and centrality of social issues related to adolescent mental and physical health along with the need to strengthen multimodal interventions along the lines of problems we have identified in our review.
INTERPRETATION
Combined interventions jointly addressing adolescent SRHR, HIV, and mental health have been relatively understudied, despite evidence that adverse social and community factors are rampant in this population.
FUNDING
MK was funded by Fogarty International CenterK43 TW010716-05 and lead the initiative.
PubMed: 36874395
DOI: 10.1016/j.eclinm.2023.101835 -
International Journal of Public Health 2023To assess the risk factors perceived as stressors by pregnant women in the work environment and the possible adverse consequences of such exposure for the normal... (Review)
Review
To assess the risk factors perceived as stressors by pregnant women in the work environment and the possible adverse consequences of such exposure for the normal development of pregnancy. Systematic review, guided by the PRISMA guidelines, and using Pubmed, Web of Science, Dialnet, SciELO, and REDIB databases. Methodological quality was assessed using the critical appraisal tools for non-randomised studies of the Joanna Briggs Institute. A total of 38 studies were included. The main risk factors found in the work environment of pregnant women were chemical, psychosocial, physical-ergonomic-mechanical factors, and other work-related factors. The main adverse consequences of exposure to these factors include low birth weight, preterm birth, miscarriage, hypertension and pre-eclampsia, as well as various obstetric complications. During pregnancy, working conditions that are considered acceptable in normal situations may not be so during this stage due to the major changes that occur during pregnancy. Many obstetric effects may have an important impact in the mother's psychological status; therefore, it is important to optimise working conditions during this stage and to reduce or eliminate possible risks.
Topics: Infant, Newborn; Pregnancy; Humans; Female; Pregnant Women; Premature Birth; Databases, Factual; Hypertension; Risk Factors
PubMed: 36874222
DOI: 10.3389/ijph.2023.1605655 -
Human Reproduction Update Jul 2023Regulated cell death is a fundamental component of numerous physiological processes; spanning from organogenesis in utero, to normal cell turnover during adulthood, as... (Review)
Review
BACKGROUND
Regulated cell death is a fundamental component of numerous physiological processes; spanning from organogenesis in utero, to normal cell turnover during adulthood, as well as the elimination of infected or damaged cells throughout life. Quality control through regulation of cell death pathways is particularly important in the germline, which is responsible for the generation of offspring. Women are born with their entire supply of germ cells, housed in functional units known as follicles. Follicles contain an oocyte, as well as specialized somatic granulosa cells essential for oocyte survival. Follicle loss-via regulated cell death-occurs throughout follicle development and life, and can be accelerated following exposure to various environmental and lifestyle factors. It is thought that the elimination of damaged follicles is necessary to ensure that only the best quality oocytes are available for reproduction.
OBJECTIVE AND RATIONALE
Understanding the precise factors involved in triggering and executing follicle death is crucial to uncovering how follicle endowment is initially determined, as well as how follicle number is maintained throughout puberty, reproductive life, and ovarian ageing in women. Apoptosis is established as essential for ovarian homeostasis at all stages of development and life. However, involvement of other cell death pathways in the ovary is less established. This review aims to summarize the most recent literature on cell death regulators in the ovary, with a particular focus on non-apoptotic pathways and their functions throughout the discrete stages of ovarian development and reproductive life.
SEARCH METHODS
Comprehensive literature searches were carried out using PubMed and Google Scholar for human, animal, and cellular studies published until August 2022 using the following search terms: oogenesis, follicle formation, follicle atresia, oocyte loss, oocyte apoptosis, regulated cell death in the ovary, non-apoptotic cell death in the ovary, premature ovarian insufficiency, primordial follicles, oocyte quality control, granulosa cell death, autophagy in the ovary, autophagy in oocytes, necroptosis in the ovary, necroptosis in oocytes, pyroptosis in the ovary, pyroptosis in oocytes, parthanatos in the ovary, and parthanatos in oocytes.
OUTCOMES
Numerous regulated cell death pathways operate in mammalian cells, including apoptosis, autophagic cell death, necroptosis, and pyroptosis. However, our understanding of the distinct cell death mediators in each ovarian cell type and follicle class across the different stages of life remains the source of ongoing investigation. Here, we highlight recent evidence for the contribution of non-apoptotic pathways to ovarian development and function. In particular, we discuss the involvement of autophagy during follicle formation and the role of autophagic cell death, necroptosis, pyroptosis, and parthanatos during follicle atresia, particularly in response to physiological stressors (e.g. oxidative stress).
WIDER IMPLICATIONS
Improved knowledge of the roles of each regulated cell death pathway in the ovary is vital for understanding ovarian development, as well as maintenance of ovarian function throughout the lifespan. This information is pertinent not only to our understanding of endocrine health, reproductive health, and fertility in women but also to enable identification of novel fertility preservation targets.
Topics: Adult; Animals; Female; Humans; Apoptosis; Granulosa Cells; Mammals; Oocytes; Ovarian Follicle; Ovary; Regulated Cell Death; Homeostasis
PubMed: 36857094
DOI: 10.1093/humupd/dmad005 -
Frontiers in Plant Science 2023The C4 grass pearl millet is one of the most drought tolerant cereals and is primarily grown in marginal areas where annual rainfall is low and intermittent. It was...
The C4 grass pearl millet is one of the most drought tolerant cereals and is primarily grown in marginal areas where annual rainfall is low and intermittent. It was domesticated in sub-Saharan Africa, and several studies have found that it uses a combination of morphological and physiological traits to successfully resist drought. This review explores the short term and long-term responses of pearl millet that enables it to either tolerate, avoid, escape, or recover from drought stress. The response to short term drought reveals fine tuning of osmotic adjustment, stomatal conductance, and ROS scavenging ability, along with ABA and ethylene transduction. Equally important are longer term developmental plasticity in tillering, root development, leaf adaptations and flowering time that can both help avoid the worst water stress and recover some of the yield losses asynchronous tiller production. We examine genes related to drought resistance that were identified through individual transcriptomic studies and through our combined analysis of previous studies. From the combined analysis, we found 94 genes that were differentially expressed in both vegetative and reproductive stages under drought stress. Among them is a tight cluster of genes that are directly related to biotic and abiotic stress, as well as carbon metabolism, and hormonal pathways. We suggest that knowledge of gene expression patterns in tiller buds, inflorescences and rooting tips will be important for understanding the growth responses of pearl millet and the trade-offs at play in the response of this crop to drought. Much remains to be learnt about how pearl millet's unique combination of genetic and physiological mechanisms allow it to achieve such high drought tolerance, and the answers to be found may well be useful for crops other than just pearl millet.
PubMed: 36844091
DOI: 10.3389/fpls.2023.1059574 -
International Journal of Environmental... Feb 2023Despite an increasing number of studies examining the impact of parental incarceration on children's well-being, there are few comprehensive reviews that collect this... (Review)
Review
Despite an increasing number of studies examining the impact of parental incarceration on children's well-being, there are few comprehensive reviews that collect this information, and even fewer from a developmental perspective. This study aims to clarify the effects of parental incarceration on children's well-being and development, as well as the moderating and mediating factors from a developmental perspective. A systematic review was conducted according to PRISMA guidelines, selecting 61 studies of children from early childhood to adolescence. The results show differences in the current evidence regarding the effects of parental incarceration on children depending on the developmental stage, with the most evidence in the 7-11-year-old stage. Being male appears as a risk moderator factor while the mental health of the caregiver and their relationship with the child appears as a mediating variable, especially from 7 to 18 years old. These results reveal the impact of parental incarceration based on children's age, providing a basis for developing protective and intervention measures.
Topics: Child; Adolescent; Humans; Male; Child, Preschool; Female; Prisoners; Risk Factors; Mental Health
PubMed: 36833841
DOI: 10.3390/ijerph20043143