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Lancet (London, England) Mar 2024Infants and young children born prematurely are at high risk of severe acute lower respiratory infection (ALRI) caused by respiratory syncytial virus (RSV). In this... (Meta-Analysis)
Meta-Analysis
Global disease burden of and risk factors for acute lower respiratory infections caused by respiratory syncytial virus in preterm infants and young children in 2019: a systematic review and meta-analysis of aggregated and individual participant data.
BACKGROUND
Infants and young children born prematurely are at high risk of severe acute lower respiratory infection (ALRI) caused by respiratory syncytial virus (RSV). In this study, we aimed to assess the global disease burden of and risk factors for RSV-associated ALRI in infants and young children born before 37 weeks of gestation.
METHODS
We conducted a systematic review and meta-analysis of aggregated data from studies published between Jan 1, 1995, and Dec 31, 2021, identified from MEDLINE, Embase, and Global Health, and individual participant data shared by the Respiratory Virus Global Epidemiology Network on respiratory infectious diseases. We estimated RSV-associated ALRI incidence in community, hospital admission, in-hospital mortality, and overall mortality among children younger than 2 years born prematurely. We conducted two-stage random-effects meta-regression analyses accounting for chronological age groups, gestational age bands (early preterm, <32 weeks gestational age [wGA], and late preterm, 32 to <37 wGA), and changes over 5-year intervals from 2000 to 2019. Using individual participant data, we assessed perinatal, sociodemographic, and household factors, and underlying medical conditions for RSV-associated ALRI incidence, hospital admission, and three severity outcome groups (longer hospital stay [>4 days], use of supplemental oxygen and mechanical ventilation, or intensive care unit admission) by estimating pooled odds ratios (ORs) through a two-stage meta-analysis (multivariate logistic regression and random-effects meta-analysis). This study is registered with PROSPERO, CRD42021269742.
FINDINGS
We included 47 studies from the literature and 17 studies with individual participant-level data contributed by the participating investigators. We estimated that, in 2019, 1 650 000 (95% uncertainty range [UR] 1 350 000-1 990 000) RSV-associated ALRI episodes, 533 000 (385 000-730 000) RSV-associated hospital admissions, 3050 (1080-8620) RSV-associated in-hospital deaths, and 26 760 (11 190-46 240) RSV-attributable deaths occurred in preterm infants worldwide. Among early preterm infants, the RSV-associated ALRI incidence rate and hospitalisation rate were significantly higher (rate ratio [RR] ranging from 1·69 to 3·87 across different age groups and outcomes) than for all infants born at any gestational age. In the second year of life, early preterm infants and young children had a similar incidence rate but still a significantly higher hospitalisation rate (RR 2·26 [95% UR 1·27-3·98]) compared with all infants and young children. Although late preterm infants had RSV-associated ALRI incidence rates similar to that of all infants younger than 1 year, they had higher RSV-associated ALRI hospitalisation rate in the first 6 months (RR 1·93 [1·11-3·26]). Overall, preterm infants accounted for 25% (95% UR 16-37) of RSV-associated ALRI hospitalisations in all infants of any gestational age. RSV-associated ALRI in-hospital case fatality ratio in preterm infants was similar to all infants. The factors identified to be associated with RSV-associated ALRI incidence were mainly perinatal and sociodemographic characteristics, and factors associated with severe outcomes from infection were mainly underlying medical conditions including congenital heart disease, tracheostomy, bronchopulmonary dysplasia, chronic lung disease, or Down syndrome (with ORs ranging from 1·40 to 4·23).
INTERPRETATION
Preterm infants face a disproportionately high burden of RSV-associated disease, accounting for 25% of RSV hospitalisation burden. Early preterm infants have a substantial RSV hospitalisation burden persisting into the second year of life. Preventive products for RSV can have a substantial public health impact by preventing RSV-associated ALRI and severe outcomes from infection in preterm infants.
FUNDING
EU Innovative Medicines Initiative Respiratory Syncytial Virus Consortium in Europe.
Topics: Infant; Child; Infant, Newborn; Humans; Child, Preschool; Infant, Premature; Global Burden of Disease; Respiratory Tract Infections; Hospitalization; Respiratory Syncytial Virus Infections; Pneumonia; Respiratory Syncytial Virus, Human; Risk Factors
PubMed: 38367641
DOI: 10.1016/S0140-6736(24)00138-7 -
Journal of Oral Rehabilitation Dec 2023Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS).... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Bruxism is a parafunctional activity characterised by grinding or clenching of teeth and is a common oral health concern in individuals with down syndrome (DS). Understanding the prevalence of bruxism in this population is crucial for developing effective management strategies. This systematic review and meta-analysis is aimed to investigate the prevalence of bruxism among individuals with DS and explore its association with other oral health issues.
METHODS
A comprehensive search was conducted across multiple electronic databases to identify relevant studies. Cross-sectional and observational studies were included. Data on bruxism prevalence and associated factors were extracted, and a meta-analysis was performed using both fixed-effects (FE) and random-effects (RE) models of MedCalc software. Heterogeneity among studies was assessed using I statistics. New Castle-Ottawa Scale was used to evaluate methodological quality of the included studies.
RESULTS
Eight studies met the pre-defined inclusion criteria and were included in the analysis. Seven studies used a questionnaire to assess bruxism. The pooled proportion estimate for occurrence of DS across the included studies was found to be 0.33 (95% CI: 0.22-0.45) as per the RE model and 0.35 (95% CI: 0.31-0.450) as per FE model in the quantitative analysis. All studies exhibited good methodological quality.
CONCLUSION
This systematic review and meta-analysis provide evidence of a significant prevalence of bruxism among individuals with DS. The findings highlight the association of bruxism with other oral health issues and specific chromosomal abnormalities. Comprehensive oral health assessments, including diagnostic procedures like Polysomnography, are essential for addressing the unique oral health needs of individuals with DS. Further studies are recommended with a valid tool for the diagnosis. Early interventions and management strategies need to be tailored to this population, considering the multifaceted nature of oral health concerns in individuals with DS.
Topics: Humans; Bruxism; Prevalence; Down Syndrome; Cross-Sectional Studies; Surveys and Questionnaires; Sleep Bruxism
PubMed: 37507203
DOI: 10.1111/joor.13563 -
Journal of Clinical Neuromuscular... Dec 2023Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle...
OBJECTIVES
Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle twitching, stiffness, hypertrophy, and dysautonomic characteristics, such as hyperhidrosis, are common manifestations. The syndrome can be autoimmune or paraneoplastic, with thymoma being a common cause of paraneoplastic IS. Furthermore, this condition could be handed down from one generation to another. However, there is limited information regarding outcomes, relapses, associated syndromes, associated malignancies (other than thymoma), and treatment options. Despite its rarity, there remains a need for effective management strategies for patients with IS. To address this gap, we conducted a systematic review to summarize the most common and effective treatments of IS in immunomodulatory agents and symptomatic medications, as well as to describe outcomes, relapses, and associated malignancies. Altogether, this review serves to guide clinical practice recommendations for IS and highlight areas for further research.
METHODS
We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol to conduct a systematic review of cases reposted through the PubMed and Google Scholar databases. The terms "Isaac Syndrome" and "Acquired Neuromyotonia" were used. The Joanna Briggs Institute's critical appraisal tool was used to evaluate the quality of the included studies.
RESULTS
We identified 61 case reports and 4 case series, comprising a total of 70 patients with IS (mean age at onset: 42.5 ± 18 years, and 69% were males). Fourteen cases reported relapses. Thymoma was the most common malignancy associated with IS, followed by lymphoma. Among various serum antibodies, voltage-gated potassium channel-complex antibodies were the most reported antibodies elevated in IS (reported in 38 patients and elevated in 21 patients [55.2%]), followed by acetylcholine ganglionic receptor antibodies, which were reported in 30% of patients (n = 21) and were elevated in 5 cases. The most common electromyography findings were myokymic discharges (n = 22), followed by fasciculations (n = 21) and neuromyotonia (n = 19). For treatment, combining anticonvulsants such as carbamazepine with immunotherapy therapy showed the best results in controlling the symptoms. Among immunotherapy therapies, the combination of plasma exchange plus intravenous high-dose steroids achieved the best results in the acute treatment of IS ([n = 6], with improvement noted in 83.3% [n = 5] of cases). Among the symptomatic treatments with anticonvulsants, carbamazepine was the most efficacious anticonvulsant in treatment of IS, with an average effective dosing of 480 mg/day (carbamazepine was used in 32.3% of acute treatment strategies [n = 23], with improvement noted in 73.9% [n = 17] of cases).
CONCLUSIONS
IS a rare neuromuscular syndrome that tends to affect middle-aged men. These patients should be screened for thymoma and other malignancies such as lymphomas. The management of IS symptoms can be challenging, but based on our review, the combination of multiple immunosuppressives such as IV steroids and plasmapheresis with anticonvulsants such as carbamazepine seems to achieve the best results.
Topics: Male; Middle Aged; Humans; Female; Isaacs Syndrome; Thymoma; Anticonvulsants; Thymus Neoplasms; Autoantibodies; Potassium Channels, Voltage-Gated; Carbamazepine; Receptors, Cholinergic; Steroids; Recurrence
PubMed: 37962197
DOI: 10.1097/CND.0000000000000460 -
Frontiers in Neuroscience 2023We critically review research findings on the unique changes in brain structure and cognitive function characteristic of Down syndrome (DS) and summarize the...
OBJECTIVES
We critically review research findings on the unique changes in brain structure and cognitive function characteristic of Down syndrome (DS) and summarize the similarities and differences with other neurodevelopmental disorders such as Williams syndrome, 22q11.2 deletion syndrome, and fragile X syndrome.
METHODS
We conducted a meta-analysis and systematic literature review of 84 studies identified by searching PubMed, Google Scholar, and Web of Science from 1977 to October 2022. This review focuses on the following issues: (1) specific neuroanatomic and histopathological features of DS as revealed by autopsy and modern neuroimaging modalities, (2) language and memory deficits in DS, (3) the relationships between these neuroanatomical and neuropsychological features, and (4) neuroanatomic and neuropsychological differences between DS and related neurodevelopmental syndromes.
RESULTS
Numerous post-mortem and morphometric neuroimaging investigations of individuals with DS have reported complex changes in regional brain volumes, most notably in the hippocampal formation, temporal lobe, frontal lobe, parietal lobe, and cerebellum. Moreover, neuropsychological assessments have revealed deficits in language development, emotional regulation, and memory that reflect these structural changes and are more severe than expected from general cognitive dysfunction. Individuals with DS also show relative preservation of multiple cognitive, linguistic, and social domains compared to normally developed controls and individuals with other neurodevelopmental disorders. However, all these neurodevelopment disorders exhibit substantial heterogeneity among individuals.
CONCLUSION
People with Down syndrome demonstrate unique neurodevelopmental abnormalities but cannot be regarded as a homogenous group. A comprehensive evaluation of individual intellectual skills is essential for all individuals with neurodevelopment disorders to develop personalized care programs.
PubMed: 37600012
DOI: 10.3389/fnins.2023.1225228 -
Frontiers in Psychology 2023The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and... (Review)
Review
The main objective of this systematic review was to synthesize the evidence on the occurrence and characteristics of stuttering in individuals with Down syndrome and thus contribute knowledge about stuttering in this population. Group studies reporting outcome measures of stuttering were included. Studies with participants who were preselected based on their fluency status were excluded. We searched the Eric, PsychInfo, Medline, Scopus, and Web of Science Core Collection databases on 3rd January 2022 and conducted supplementary searches of the reference lists of previous reviews and the studies included in the current review, as well as relevant speech and language journals. The included studies were coded in terms of information concerning sample characteristics, measurement approaches, and stuttering-related outcomes. The appraisal tool for cross-sectional studies (AXIS) was used to evaluate study quality. We identified 14 eligible studies, with a total of 1,833 participants (mean = 131.29, standard deviation = 227.85, median = 45.5) between 3 and 58 years of age. The estimated occurrence of stuttering ranged from 2.38 to 56%, which is substantially higher than the estimated prevalence (1%) of stuttering in the general population. The results also showed that stuttering severity most often was judged to be mild-to-moderate and that individuals with Down syndrome displayed secondary behaviors when these were measured. However, little attention has been paid to investigating the potential adverse effects of stuttering for individuals with Down syndrome. We judged the quality of the evidence to be moderate-to-low. The negative evaluation was mostly due to sampling limitations that decreased the representability and generalizability of the results. Based on the high occurrence of stuttering and the potential negative effects of this condition, individuals with Down syndrome who show signs of stuttering should be referred to a speech and language pathologist for an evaluation of their need for stuttering treatment.
PubMed: 38094702
DOI: 10.3389/fpsyg.2023.1176743 -
Journal of Intellectual Disability... Aug 2023Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Down syndrome (DS) is the most common genetic disorder. To date, the scientific literature regarding micronutrient status in children and adolescents with DS has not been systematically reviewed. Therefore, our aim was to provide a systematic review and meta-analysis on this topic.
METHODS
We identified all relevant case-control studies published by 1 January 2022, by searching the PubMed and Scopus databases for original English-language articles analysing the micronutrient status of individuals with DS. Forty studies were included in the systematic review and 31 in the meta-analysis.
RESULTS
Statistically significant differences between individuals with DS (cases) and non-DS (controls) (P ≤ 0.05) were obtained for zinc, selenium, copper, vitamin B12, sodium and calcium. Serum, plasma and whole blood analyses showed lower zinc levels in cases than controls {standardised mean difference [SMD] serum [95% confidence interval (CI)] = -2.32 [-3.22, -1.41], P < 0.00001; SMD plasma [95% CI] = -1.29 [-2.26, -0.31], P < 0.01; SMD blood [95% CI] = -1.59 [-2.29, -0.89], P < 0.00001}. Similarly, plasma and blood selenium concentrations were significantly lower in cases than controls (SMD plasma [95% CI] = -1.39 [-2.26, -0.51], P = 0.002; SMD blood [95% CI] = -1.86 [-2.59, -1.13], P < 0.00001). Intraerythrocytic copper and serum B12 were higher in cases than controls (SMD Cu [95% CI] = 3.33 [2.19, 4.46], P < 0.00001; SMD B12 [95% CI] = 0.89 [0.01, 1.77], P = 0.048). Blood calcium was lower in cases than controls (SMD Ca [95% CI] = -0.77 [-1.34, -0.21], P = 0.007).
CONCLUSIONS
This study provides the first systematic overview of micronutrient status in children and adolescents with DS and has shown that relatively little consistent research has been executed in this field. There is a clear need for more well-designed, clinical trials to study the micronutrient status and effects of dietary supplements in children and adolescents with DS.
Topics: Child; Humans; Adolescent; Micronutrients; Down Syndrome; Selenium; Copper; Calcium; Zinc
PubMed: 37218392
DOI: 10.1111/jir.13042 -
Seizure Jul 2023The late onset myoclonic epilepsy in Down Syndrome (LOMEDS) is a peculiar epilepsy type characterized by cortical myoclonus and generalized tonic-clonic seizures (GTCS),... (Review)
Review
INTRODUCTION
The late onset myoclonic epilepsy in Down Syndrome (LOMEDS) is a peculiar epilepsy type characterized by cortical myoclonus and generalized tonic-clonic seizures (GTCS), in people suffering from cognitive decline in Down syndrome (DS). In this review, we analyzed available data on the diagnostic and therapeutic management of individuals with LOMEDS.
METHODS
We performed a systematic search of the literature to identify the diagnostic and therapeutic management of patients with LOMEDS. The following databases were used: PubMed, Google Scholar, EMBASE, CrossRef. The protocol was registered on PROSPERO (registration code: CRD42023390748).
RESULTS
Data from 46 patients were included. DS was diagnosed according to the patient's clinical and genetic characteristics. Diagnosis of Alzheimer's dementia (AD) preceded the onset of epilepsy in all cases. Both myoclonic seizures (MS) and generalized tonic-clonic seizures (GTCS) were reported, the latter preceding the onset of MS in 28 cases. EEG was performed in 45 patients, showing diffuse theta/delta slowing with superimposed generalized spike-and-wave or polyspike-and-wave. A diffuse cortical atrophy was detected in 34 patients on neuroimaging. Twenty-seven patients were treated with antiseizure medication (ASM) monotherapy, with reduced seizure frequency in 17 patients. Levetiracetam and valproic acid were the most used ASMs. Up to 41% of patients were unresponsive to first-line treatment and needed adjunctive therapy for seizure control.
CONCLUSIONS
AD-related pathological changes in the brain may play a role in LOMEDS onset, although the mechanism underlying this phenomenon is still unknown. EEG remains the most relevant investigation to be performed. A significant percentage of patients developed a first-line ASM refractory epilepsy. ASMs which modulate the glutamatergic system may represent a good therapeutic option.
Topics: Humans; Down Syndrome; Epilepsy; Epilepsies, Myoclonic; Levetiracetam; Seizures; Alzheimer Disease; Electroencephalography; Anticonvulsants; Epilepsy, Generalized
PubMed: 37267668
DOI: 10.1016/j.seizure.2023.05.017 -
International Urology and Nephrology Oct 2023Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Some authors have estimated that the incidence of testicular germ cell tumors in individuals with trisomy 21 is more than fivefold higher than that in the general population.
OBJECTIVE
This systematic review aimed to estimate the incidence of urological tumors in patients with Down's syndrome.
STUDY DESIGN
We conducted a search strategy in MEDLINE (OVID), EMBASE, LILACS, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to nowadays. We assessed the risk of bias and performed a meta-analysis. Also, the heterogeneity between trials was evaluated by the I test. We completed the subgroup analysis based on the type of urological tumor (testis, bladder, kidney, upper urological tract, penile, retroperitoneum).
RESULTS
We found 350 studies by the search strategy. After carefully reviewing, full-text studies were included. 16,248 individuals with Down's syndrome were included, and 42 patients presented with urological tumors. There was a total incidence of 0.1%, 95%CI (0.06-0.19), I 61%. The most common urological tumor reported was testicular. We found six studies describing 31 events and an overall incidence of 0.19%, 95%CI (0.11-0.33), I: 51%. Other studies reported kidney, penile, upper urinary tract, bladder, and retroperitoneum tumors with a very low incidence, 0.02%, 0.06%, 0.03%, 0.11%and 0.07%, respectively.
DISCUSSION
Regarding non-testicular urological tumors, we found incidences as low as 0.02% in kidney cancer or 0.03% in the upper-urothelial tract tumors. It is also lower than the general population. Compared to the age of onset of patients, it is also lower than the general population, perhaps related to a shorter life expectancy. As a limitation, we found a high heterogeneity and a lack of information regarding non-testicular tumors.
CONCLUSION
There was a very low incidence of urological tumors in people with Down's syndrome. Testis tumor was the most frequently described in all cohorts and within a normal distribution range.
Topics: Male; Humans; Down Syndrome; Incidence; Testicular Neoplasms; Urologic Neoplasms
PubMed: 37368086
DOI: 10.1007/s11255-023-03656-4 -
Special Care in Dentistry : Official... 2024Down syndrome (DS) is distinguished by cognitive disability, a concave profile, and systemic complications. Oral diseases have been reported to be common in DS patients. (Meta-Analysis)
Meta-Analysis
BACKGROUND
Down syndrome (DS) is distinguished by cognitive disability, a concave profile, and systemic complications. Oral diseases have been reported to be common in DS patients.
OBJECTIVE
To investigate the association between DS and periodontal diseases.
METHODS
Two independent reviewers searched six bibliographic databases up to January 2023 and used additional search methods to identify published studies on gingivitis or periodontitis in people with and without DS. Meta-analysis, risk of bias, sensibility analysis, publication bias, and evidence grading were all carried out.
RESULTS
Twenty-six studies were included for analysis. There was a tendency for increased plaque accumulation, periodontal probing, periodontal attachment level, bleeding on probing and indices in DS individuals. Meta-analysis of 11 studies showed a significant association between DS and periodontitis (OR 3.93; 95% CI 1.81-8.53). Probing depth was significantly high in individuals with DS as compared to controls (mean difference 0.40 mm; 95% CI 0.09-0.70). Gingivitis was significantly associated (OR 1.93; 95% CI 1.09-3.41) with DS in four studies. The evidence was classified as 'moderate certainty'.
CONCLUSION
Medium/low-quality studies demonstrate that Down syndrome is strongly associated with periodontitis and moderately associated with gingivitis.
Topics: Humans; Down Syndrome; Periodontal Diseases; Periodontitis; Gingivitis; Dental Plaque
PubMed: 37341556
DOI: 10.1111/scd.12892 -
Scientific Reports Dec 2023Therapeutic exercise exerts positive effects by mitigating or reducing the motor or cognitive changes that people with Down syndrome undergo throughout their life. There... (Meta-Analysis)
Meta-Analysis
Therapeutic exercise exerts positive effects by mitigating or reducing the motor or cognitive changes that people with Down syndrome undergo throughout their life. There are no updated systematic reviews that integrate the evidence available in a way that facilitates decision-making for physical rehabilitation teams. This study therefore aimed to consolidate the information available and compare the effects of different types of physical exercise on the motor function of adults with DS. We conducted a systematic review and meta-analysis of randomized clinical trials and quasi-experimental studies. The literature search was performed between January 2023 and February 2023 using the PubMed, SCIELO, Epistemonikos, and Lilacs databases. Studies were selected according to pre-determined inclusion and exclusion criteria. The risk-of-bias assessment was performed using the risk-of-bias rating tool for randomized clinical trial (RoB) and the risk of bias of non-randomized comparative studies was assessed using the risk of bias in non-randomized studies of interventions (ROBINS-I) tool. Risk-of-bias assessment and meta-analyses were performed using the RevMan software package. Sixteen studies met the eligibility criteria for the qualitative synthesis and 4 were included in the meta-analyses. Combined exercise significantly increased muscle strength both in the upper limbs (SMD = 0.74 [95% CI 0.25-1.22]) and lower limbs (SMD = 0.56[95% CI 0.08-1.04]). Aerobic exercise improved spatiotemporal gait parameters. Aerobic exercise showed significant improvements in dynamic balance while combined exercise significantly increased dynamic and static balance. The certainty of the evidence was low to moderate for all outcomes. There was low and moderate certainty of evidence for the outcomes proposed in this review. However, therapeutic exercise could be effective in improving muscle strength and gait functionality.
Topics: Adult; Humans; Down Syndrome; Exercise; Exercise Therapy; Randomized Controlled Trials as Topic
PubMed: 38081839
DOI: 10.1038/s41598-023-48179-1