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International Journal of Environmental... Jun 2022Zika virus (ZIKV) infection during pregnancy is a cause of pregnancy loss and multiple clinical and neurological anomalies in children. This systematic review aimed to... (Meta-Analysis)
Meta-Analysis Review
Zika virus (ZIKV) infection during pregnancy is a cause of pregnancy loss and multiple clinical and neurological anomalies in children. This systematic review aimed to assess the effect of ZIKV exposure in utero on the long-term neurodevelopment of normocephalic children born to women with ZIKV infection in pregnancy. This review was conducted according to the PRISMA guidelines for systematic reviews and meta-analyses. We performed a random effects meta-analysis to estimate the cross-study prevalence of neurodevelopmental delays in children using the Bayley Scales for Infant and Toddler Development (BSID-III). The risk of bias was assessed using Cochrane's Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Full-text reviews were performed for 566 articles, and data were extracted from 22 articles corresponding to 20 studies. Nine articles including data from 476 children found 6.5% (95% CI: 4.1-9.3) of infants and children to have any type of non-language cognitive delay; 29.7% (95% CI: 21.7-38.2) to have language delay; and 11.5% (95% CI: 4.8-20.1) to have any type of motor delay. The pooled estimates had a high level of heterogeneity; thus, results should be interpreted with caution. Larger prospective studies that include a non-exposed control group are needed to confirm whether ZIKV exposure in utero is associated with adverse child neurodevelopmental outcomes.
Topics: Craniosynostoses; Female; Humans; Infant; Infant, Newborn; Pregnancy; Pregnancy Complications, Infectious; Prospective Studies; Zika Virus; Zika Virus Infection
PubMed: 35742566
DOI: 10.3390/ijerph19127319 -
American Journal of Medical Genetics.... Sep 2022Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad... (Review)
Review
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. A systematic search of CINAHL, Medline, and PsychINFO was carried out in March 2021 to identify group studies describing behavioral, cognitive, emotional, psychiatric, and social characteristics in RTS. The studies were quality appraised. Characteristics reported include repetitive behavior, behaviors that challenge, intellectual disability, mental health difficulties, autism characteristics, and heightened sociability. Findings were largely consistent across studies, indicating that many characteristics are likely to form part of the behavioral phenotype of RTS. However, methodological limitations, such as a lack of appropriate comparison groups and inconsistency in measurement weaken these conclusions. There is a need for multi-disciplinary studies, combining genetic and psychological measurement expertise within single research studies. Recommendations are made for future research studies in RTS.
Topics: Genotype; Humans; Intellectual Disability; Phenotype; Rubinstein-Taybi Syndrome
PubMed: 35730128
DOI: 10.1002/ajmg.a.62867 -
World Neurosurgery Aug 2022Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Craniosynostosis leads to craniofacial deformity and may result in raised intracranial pressure, neurocognitive deficits, and psychosocial issues if left untreated. The global epidemiology of craniosynostosis is unknown. We conducted a meta-analysis to estimate global birth prevalence.
METHODS
PubMed, Embase, and Scopus were searched. Articles were screened by title and abstract and then full text. Meta-analysis of birth prevalence was conducted. Birth prevalence figures were combined with metrics detailing the number of births in 2019 to estimate the number of children worldwide born with craniosynostosis annually.
RESULTS
Of 1378 resultant articles, 24 studies were included, including 20 providing data for craniosynostosis overall and 9 for nonsyndromic craniosynostosis. World Health Organization regions of included studies were 9 (37.5%) European Region, 8 (33.3%) Region of the Americas, 4 (16.7%) Western Pacific region, 2 (8.3%) African Region, and 1 (4.2%) Eastern Mediterranean Region. Lower middle-income countries represented only 4% of study manuscripts. The overall birth prevalence of craniosynostosis was 5.9 per 10,000 live births (20 studies; 95% confidence interval [CI]: 3.9, 8.4; I = 100%). The birth prevalence of nonsyndromic craniosynostosis was 5.2 per 10,000 live births (9 studies; 95% CI: 3.4, 7.3; I = 98%). The number of children born globally with craniosynostosis in 2019 was estimated to be 84,665 (95% CI: 55,965, 120,540), including 72,857 (95% CI: 47,637, 120,280) with nonsyndromic craniosynostosis.
CONCLUSIONS
Craniosynostosis is a common condition that affects the neurocognitive and craniofacial skeletal development of children worldwide. Initiatives to scale up capacity for craniosynostosis epidemiologic research and clinical care are warranted, particularly in low- and middle-income countries.
Topics: Bibliometrics; Child; Craniosynostoses; Global Health; Humans; Income; Prevalence; World Health Organization
PubMed: 35636659
DOI: 10.1016/j.wneu.2022.05.093 -
Foot and Ankle Surgery : Official... Oct 2022The primary aim was to determine the clinical success rate after treatment for talocalcaneal (TCC) and calcaneonavicular coalitions (CNC). The secondary aim was to...
BACKGROUND
The primary aim was to determine the clinical success rate after treatment for talocalcaneal (TCC) and calcaneonavicular coalitions (CNC). The secondary aim was to evaluate the complication, recurrence and revision rate.
METHODS
A search was carried out in MEDLINE, EMBASE and Cochrane Library. Methodological quality was assessed using the Methodological Index for Non-Randomised Studies (MINORS) criteria. The primary outcome was the clinical success rate and was pooled per type of coalition and treatment modality. 95% Confidence Intervals (CI) of the success rates were calculated. Secondary outcomes included complication rates, coalition recurrence rates, revision rates and pain improvement using the Visual Analogue Scale (VAS). A sub-analysis on interposition material was performed.
RESULTS
43 articles comprising of 1284 coalitions were included, with a pooled mean follow-up of 51 months. Methodological quality was fair. The overall pooled success rate for TCCs was 79% (95% CI, 75%-83%). Conservative treatment, open resection and arthroscopic resection of TCCs resulted in success rates of 58% (95% CI, 42%-73%), 80% (95% CI, 76%-84%) and 86% (95% CI, 71%-94%), respectively. CNCs have an overall success rate of 81% (95% CI, 75%-85%), with 100% (95% CI, 34%-100%), 80% (95% CI, 74%-85%) and 100% (95% CI, 65%-100%) for conservative treatment, open resection and arthroscopic resection, respectively. Pooled complication rates of 4% (95% CI, 3%-7%) for TCCs and 6% (95% CI, 4%-11%) for CNCs were found. The success rates of resection with and without interposition material for TCCs were 83% (95% CI, 78%-87%) and 79% (95% CI, 65%-88%), and for CNCs 81% (95% CI, 76%-86%) and 69% (95% CI, 44%-85%), respectively.
CONCLUSION
Treatment of tarsal coalitions can be considered good to excellent as well as safe, with an overall clinical success rate of 79% for TCCs and 81% for CNCs. Arthroscopic resection of the coalition appears to be non-inferior to open resection of TCCs and CNCs.
LEVEL OF EVIDENCE
Level IV, Systematic Review.
Topics: Carpal Bones; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Stapes; Synostosis; Tarsal Bones; Tarsal Coalition
PubMed: 35397990
DOI: 10.1016/j.fas.2022.03.011 -
Scientific Reports Apr 2022This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric... (Meta-Analysis)
Meta-Analysis
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle-Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7-8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case-control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I: 76.56%; P = 0.014; CI 1.27 to - 0.28) and Greater wing angle (I: 79.07%; P = 0.008; CI 3.07-1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.
Topics: Acrocephalosyndactylia; Cephalometry; Cleft Palate; Humans; Research Report
PubMed: 35383244
DOI: 10.1038/s41598-022-09764-y -
Current Pediatric Reviews 2023Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the...
BACKGROUND
Silver-Russell syndrome (SRS) is a developmental disorder involving extreme growth failure, characteristic facial features and underlying genetic heterogeneity. As the clinical heterogeneity of SRS makes diagnosis a challenging task, the worldwide incidence of SRS could vary from 1:30,000 to 1:100,000. Although various chromosomal, genetic, and epigenetic mutations have been linked with SRS, the cause had only been identified in half of the cases.
MATERIAL AND METHODS
To have a better understanding of the SRS clinical presentation and mutation/ epimutation responsible for SRS, a systematic review of the literature was carried out using appropriate keywords in various scientific databases (PROSPERO protocol registration CRD42021273211). Clinical features of SRS have been compiled and presented corresponding to the specific genetic subtype. An attempt has been made to understand the recurrence risk and the role of model organisms in understanding the molecular mechanisms of SRS pathology, treatment, and management strategies of the affected patients through the analysis of selected literature.
RESULTS
156 articles were selected to understand the clinical and molecular heterogeneity of SRS. Information about detailed clinical features was available for 228 patients only, and it was observed that body asymmetry and relative macrocephaly were most prevalent in cases with methylation defects of the 11p15 region. In about 38% of cases, methylation defects in ICRs or genomic mutations at the 11p15 region have been implicated. Maternal uniparental disomy of chromosome 7 (mUPD7) accounts for about 7% of SRS cases, and rarely, uniparental disomy of other autosomes (11, 14, 16, and 20 chromosomes) has been documented. Mutation in half of the cases is yet to be identified. Studies involving mice as experimental animals have been helpful in understanding the underlying molecular mechanism. As the clinical presentation of the syndrome varies a lot, treatment needs to be individualized with multidisciplinary effort.
CONCLUSION
SRS is a clinically and genetically heterogeneous disorder, with most of the cases being implicated with a mutation in the 11p15 region and maternal disomy of chromosome 7. Recurrence risk varies according to the molecular subtype. Studies with mice as a model organism have been useful in understanding the underlying molecular mechanism leading to the characteristic clinical presentation of the syndrome. Management strategies often need to be individualized due to varied clinical presentations.
Topics: Humans; Animals; Mice; Mice, Inbred ICR; Silver-Russell Syndrome; Uniparental Disomy; Genomic Imprinting
PubMed: 35293298
DOI: 10.2174/1573396318666220315142542 -
Children (Basel, Switzerland) Jan 2022(1) Background: Congenital pseudoarthrosis of the clavicle is a rare condition due to the failure of the union process of the ossification nuclei of the clavicle. The... (Review)
Review
(1) Background: Congenital pseudoarthrosis of the clavicle is a rare condition due to the failure of the union process of the ossification nuclei of the clavicle. The aim of this study was to conduct a systematic review of relevant case series about the argument to find an up-to-date base of evidence for treatment choice. (2) Methods: an electronic literature research of Ovid, MEDLINE and the Cochrane Library databases was conducted, and articles were selected based on inclusion criteria. Demographic data, clinical features, treatment options, outcomes and complications were analyzed. (3) Results: 21 articles met the inclusion criteria, showing a poor overall study quality; 231 pediatric patients (240 clavicles) were analyzed. The condition was typically right sided, showed no sex predominance and no clear predisposing factors. 156 patients underwent surgical treatment, mainly open debridement and refresh of bony ends, fixation with pin or plate and bone graft, with a successful union rate of 87.4%. The nonunion rate was significantly higher in the allograft group (44.4%, = 0.019). (4) Conclusions: this paper presents an updated systematic review about treatment of congenital pseudoarthrosis of the clavicle. We confirm the generally satisfactory results of surgery, demonstrating that successful union is achievable in 87.4% of cases with a prevalence of 15.7% of major complications. Nonetheless our results should be interpreted with caution due to several limitations.
PubMed: 35204869
DOI: 10.3390/children9020147 -
International Journal of Oral and... Oct 2022The aim of this systematic review was to review the literature on hearing impairment and ear anomalies in patients with craniofacial microsomia and to determine their... (Review)
Review
The aim of this systematic review was to review the literature on hearing impairment and ear anomalies in patients with craniofacial microsomia and to determine their prevalence. Sixty-two records including 5122 patients were included. Ear anomalies were present in 52-100% of patients. The most reported external ear malformations were microtia, pre-auricular tags, and atresia of the external auditory canal. Ossicular anomalies were the most reported middle ear malformations, whereas the most reported inner ear malformations included oval window anomalies, cochlear anomalies, and anomalies of the semicircular canals. Hearing loss in general was reported in 29-100% of patients, which comprised conductive hearing loss, mixed hearing loss, and sensorineural hearing loss. Between 21% and 51% of patients used hearing aids, and 58% underwent a surgical intervention to improve hearing. The relationship between different phenotypes of craniofacial microsomia and the type and severity of hearing loss is mostly unclear. In conclusion, the high prevalence of ear and hearing anomalies in patients with craniofacial microsomia underlines the importance of audiological screening in order to facilitate individual treatment.
Topics: Goldenhar Syndrome; Hearing Loss; Hearing Loss, Conductive; Hearing Loss, Sensorineural; Humans; Phenotype; Retrospective Studies
PubMed: 35125269
DOI: 10.1016/j.ijom.2022.01.005 -
Journal of Stomatology, Oral and... Oct 2022Craniosynostoses affect 1/2000 births and their incidence is currently increasing. Without surgery, craniosynostosis can lead to neurological issues due to restrained...
INTRODUCTION
Craniosynostoses affect 1/2000 births and their incidence is currently increasing. Without surgery, craniosynostosis can lead to neurological issues due to restrained brain growth and social stigma due to abnormal head shapes. Understanding growth patterns is essential to develop surgical planning approaches and predict short- and long-term post-operative results. Here we provide a systematic review of normal and pathological cranial vault growth models.
MATERIAL AND METHODS
The systematic review of the literature identified descriptive and comprehensive skull growth models with the following criteria: full text articles dedicated to the skull vault of children under 2 years of age, without focus on molecular and cellular mechanisms. Models were analysed based on initial geometry, numerical method, age determination method and validation process.
RESULTS
A total of 14 articles including 17 models was reviewed. Four descriptive models were assessed, including 3 models using statistical analyses and 1 based on deformational methods. Thirteen comprehensive models were assessed including 7 finite element models and 6 diffusion models. Results from the current literature showed that successful models combined analyses of cranial vault shape and suture bone formation.
DISCUSSION
Growth modelling is central when assessing craniofacial architecture in young patients and will be a key factor in the development of future customized treatment strategies. Recurrent technical difficulties were encountered by most authors when generalizing a specific craniosynostosis model to all types of craniosynostoses, when assessing the role of the brain and when attempting to relate the age with different stages of growth.
Topics: Child; Cranial Sutures; Craniosynostoses; Head; Humans; Infant; Postoperative Period; Skull
PubMed: 35007781
DOI: 10.1016/j.jormas.2022.01.002 -
Journal of Plastic, Reconstructive &... Apr 2022This study aimed to determine the efficacy and harms of using tranexamic acid (TXA) versus placebo/no intervention to reduce blood loss and the need for transfusion in... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This study aimed to determine the efficacy and harms of using tranexamic acid (TXA) versus placebo/no intervention to reduce blood loss and the need for transfusion in children undergoing surgical correction of craniosynostosis.
METHODS
We searched MEDLINE (OVID), EMBASE, LILACS, CENTRAL, and other sources. We included clinical trials, prospective, retrospective observational studies, case-control studies, and cohort studies. The primary outcomes were blood loss and the need for a transfusion, and secondary outcomes were hemoglobin, hematocrit, and adverse effects. We assessed the risk of bias with the Cochrane Collaboration tool. We performed the statistical analysis in R and reported information about the mean difference (MD) with a 95% confidence interval (CI). We evaluated heterogeneity with the I2 test. We produced forest plots to show the amount of evidence available for each outcome and made subgroup analyses.
RESULTS
We included 11 studies in qualitative and quantitative analysis accounting for 752 patients. In general, the risk of all bias was assessed as low for non-randomized studies, and we found high performance and detection bias in one randomized study. TXA significantly reduced blood loss and need for transfusion compared to placebo/no intervention with an MD of -15.47 (95%CI -23.82, -7.11) and -8.18 (95%CI -12.24, -4.11), respectively. These differences were maintained regardless of the type of study, secondary outcomes also favored TXA, and there was no report of adverse effects.
CONCLUSIONS
TXA reduces blood loss and the need for transfusion when compared to placebo/no intervention. The available studies on this topic suggest its use in these patients and its implementation in surgery protocols.
Topics: Antifibrinolytic Agents; Blood Loss, Surgical; Child; Craniosynostoses; Humans; Prospective Studies; Retrospective Studies; Tranexamic Acid
PubMed: 34949570
DOI: 10.1016/j.bjps.2021.11.064