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Oman Medical Journal Mar 2020Language barriers pose challenges in terms of achieving high levels of satisfaction among medical professionals and patients, providing high- quality healthcare and... (Review)
Review
OBJECTIVES
Language barriers pose challenges in terms of achieving high levels of satisfaction among medical professionals and patients, providing high- quality healthcare and maintaining patient safety. To address these challenges, many larger healthcare institutions offer interpreter services to improve healthcare access, patient satisfaction, and communication. However, these services increase the cost and duration of treatment. The purpose of this review is to investigate the impact of language barriers on healthcare and to suggest solutions to address the challenges.
METHODS
We identified published studies on the implications of language barriers in healthcare using two databases: PubMed and Medline. We included 14 studies that met the selection criteria. These studies were conducted in various countries, both developed and developing, though most came from the US. The 14 studies included 300 918 total participants, with participation in each study ranging from 21 to 22 353 people.
RESULTS
We found that language barriers in healthcare lead to miscommunication between the medical professional and patient, reducing both parties' satisfaction and decreasing the quality of healthcare delivery and patient safety. In addition, the review found that interpreter services contribute indirectly to increased cost and the length of treatment visits. One study reported the implementation of online translation tools such as Google Translate and MediBabble in hospitals, which increased the satisfaction of both medical providers and patients (to 92%) and improved the quality of healthcare delivery and patient safety. Language barriers are responsible for reducing the satisfaction of medical providers and patients, as well as the quality of healthcare delivery and patient safety. Many healthcare institutions use interpreter services that increase the cost and length of treatment visits.
CONCLUSIONS
The results of our review suggest that implementing online translation tools such as Google Translate and MediBabble may improve the quality of healthcare and the level of satisfaction among both medical providers and patients.
PubMed: 32411417
DOI: 10.5001/omj.2020.40 -
Medicine Aug 2020To compare the effects of 3% hypertonic saline solution and 20% mannitol solution on intracranial hypertension. (Comparative Study)
Comparative Study Meta-Analysis
BACKGROUND
To compare the effects of 3% hypertonic saline solution and 20% mannitol solution on intracranial hypertension.
METHODS
WAN-FANGDATA, CNKI, and CQVIP databases were searched, and relevant literatures of randomized controlled trials comparing 3% hypertonic saline solution with mannitol in reducing intracranial hypertension from 2010 to October 2019 were collected. Meta-analysis was performed using RevMan software.
RESULTS
As a result, 10 articles that met the inclusion criteria were finally included. A total of 544 patients were enrolled in the study, 270 in the hypertonic saline group and 274 in the mannitol group. There was no significant difference in the decrease of intracranial pressure and the onset time of drug between the 2 groups after intervention (all P > .05). There was a statistically significant difference between the hypertonic saline group and the mannitol group in terms of duration of effect in reducing intracranial pressure (95% confidence interval: 0.64-1.05, Z = 8.09, P < .00001) and cerebral perfusion pressure after intervention (95% confidence interval: 0.15-0.92, Z = 2.72, P = .007).
CONCLUSION
Both 3% hypertonic saline and mannitol can effectively reduce intracranial pressure, but 3% hypertonic saline has a more sustained effect on intracranial pressure and can effectively increase cerebral perfusion pressure.
Topics: Brain Injuries, Traumatic; Diuretics, Osmotic; Humans; Intracranial Hypertension; Intracranial Pressure; Mannitol; Saline Solution, Hypertonic
PubMed: 32871879
DOI: 10.1097/MD.0000000000021655 -
JPEN. Journal of Parenteral and Enteral... Jan 2017The management of patients with enterocutaneous fistula (ECF) requires an interdisciplinary approach and poses a significant challenge to physicians, wound/stoma care... (Review)
Review
BACKGROUND
The management of patients with enterocutaneous fistula (ECF) requires an interdisciplinary approach and poses a significant challenge to physicians, wound/stoma care specialists, dietitians, pharmacists, and other nutrition clinicians. Guidelines for optimizing nutrition status in these patients are often vague, based on limited and dated clinical studies, and typically rely on individual institutional or clinician experience. Specific nutrient requirements, appropriate route of feeding, role of immune-enhancing formulas, and use of somatostatin analogues in the management of patients with ECF are not well defined. The purpose of this clinical guideline is to develop recommendations for the nutrition care of adult patients with ECF.
METHODS
A systematic review of the best available evidence to answer a series of questions regarding clinical management of adults with ECF was undertaken and evaluated using concepts adopted from the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) Working Group. An anonymous consensus process was used to develop the clinical guideline recommendations prior to peer review and approval by the ASPEN Board of Directors and by FELANPE.
QUESTIONS
In adult patients with enterocutaneous fistula: (1) What factors best describe nutrition status? (2) What is the preferred route of nutrition therapy (oral diet, enteral nutrition, or parenteral nutrition)? (3) What protein and energy intake provide best clinical outcomes? (4) Is fistuloclysis associated with better outcomes than standard care? (5) Are immune-enhancing formulas associated with better outcomes than standard formulas? (6) Does the use of somatostatin or somatostatin analogue provide better outcomes than standard medical therapy? (7) When is home parenteral nutrition support indicated?
Topics: Consensus; Databases, Factual; Disease Management; Enteral Nutrition; Humans; Intestinal Fistula; Meta-Analysis as Topic; Nutritional Requirements; Observational Studies as Topic; Parenteral Nutrition; Parenteral Nutrition Solutions; Practice Guidelines as Topic; Randomized Controlled Trials as Topic
PubMed: 27913762
DOI: 10.1177/0148607116680792 -
Clinical Reviews in Allergy & Immunology Aug 2023Vernal keratoconjunctivitis (VKC) is a chronic, bilateral corneal and conjunctival problem which typically presents in young individuals. VKC is characterized by... (Review)
Review
Vernal keratoconjunctivitis (VKC) is a chronic, bilateral corneal and conjunctival problem which typically presents in young individuals. VKC is characterized by itching, photophobia, white mucous discharge, lacrimation, foreign body sensation, and pain due to corneal involvement of shield ulcers. Vernal keratoconjunctivitis is categorized within ocular diseases. The diagnosis is clinical, as no sure biomarkers pathognomonic of the disease have yet been identified. The VKC therapy relies on different types of drugs, from antihistamines and topical steroids to cyclosporine or tacrolimus eye drops. In extremely rare cases, there is also the need for surgical treatment for the debridement of ulcers, as well as for advanced glaucoma and cataracts, caused by excessive prolonged use of steroid eye drops. We performed a systematic review of the literature, according to PRISMA guideline recommendations. We searched the PubMed database from January 2016 to June 2023. Search terms were Vernal, Vernal keratoconjunctivitis, and VKC. We initially identified 211 articles. After the screening process, 168 studies were eligible according to our criteria and were included in the review. In this study, we performed a systematic literature review to provide a comprehensive overview of currently available diagnostic methods, management of VKC, and its treatments.
Topics: Humans; Conjunctivitis, Allergic; Ulcer; Cyclosporine; Tacrolimus; Ophthalmic Solutions
PubMed: 37658939
DOI: 10.1007/s12016-023-08970-4 -
Intensive Care Medicine Dec 2022Intravenous maintenance fluid therapy (IV-MFT) prescribing in acute and critically ill children is very variable among pediatric health care professionals. In order to... (Meta-Analysis)
Meta-Analysis
PURPOSE
Intravenous maintenance fluid therapy (IV-MFT) prescribing in acute and critically ill children is very variable among pediatric health care professionals. In order to provide up to date IV-MFT guidelines, the European Society of Pediatric and Neonatal Intensive Care (ESPNIC) undertook a systematic review to answer the following five main questions about IV-MFT: (i) the indications for use (ii) the role of isotonic fluid (iii) the role of balanced solutions (iv) IV fluid composition (calcium, magnesium, potassium, glucose and micronutrients) and v) and the optimal amount of fluid.
METHODS
A multidisciplinary expert group within ESPNIC conducted this systematic review using the Scottish Intercollegiate Guidelines Network (SIGN) grading method. Five databases were searched for studies that answered these questions, in acute and critically children (from 37 weeks gestational age to 18 years), published until November 2020. The quality of evidence and risk of bias were assessed, and meta-analyses were undertaken when appropriate. A series of recommendations was derived and voted on by the expert group to achieve consensus through two voting rounds.
RESULTS
56 papers met the inclusion criteria, and 16 recommendations were produced. Outcome reporting was inconsistent among studies. Recommendations generated were based on a heterogeneous level of evidence, but consensus within the expert group was high. "Strong consensus" was reached for 11/16 (69%) and "consensus" for 5/16 (31%) of the recommendations.
CONCLUSIONS
Key recommendations are to use isotonic balanced solutions providing glucose to restrict IV-MFT infusion volumes in most hospitalized children and to regularly monitor plasma electrolyte levels, serum glucose and fluid balance.
Topics: Infant, Newborn; Child; Humans; Critical Illness; Fluid Therapy; Isotonic Solutions; Infusions, Intravenous; Glucose
PubMed: 36289081
DOI: 10.1007/s00134-022-06882-z -
Critical Care (London, England) Dec 2020Crystalloids and different component colloids, used for volume resuscitation, are sometimes associated with various adverse effects. Clinical trial findings for such... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Crystalloids and different component colloids, used for volume resuscitation, are sometimes associated with various adverse effects. Clinical trial findings for such fluid types in different patients' conditions are conflicting. Whether the mortality benefit of balanced crystalloid than saline can be inferred from sepsis to other patient group is uncertain, and adverse effect profile is not comprehensive. This study aims to compare the survival benefits and adverse effects of seven fluid types with network meta-analysis in sepsis, surgical, trauma, and traumatic brain injury patients.
METHODS
Searched databases (PubMed, EMBASE, and Cochrane CENTRAL) and reference lists of relevant articles occurred from inception until January 2020. Studies on critically ill adults requiring fluid resuscitation were included. Intervention studies reported on balanced crystalloid, saline, iso-oncotic albumin, hyperoncotic albumin, low molecular weight hydroxyethyl starch (L-HES), high molecular weight HES, and gelatin. Network meta-analyses were conducted using random-effects model to calculate odds ratio (OR) and mean difference. Risk of Bias tool 2.0 was used to assess bias. Confidence in Network Meta-Analysis (CINeMA) web application was used to rate confidence in synthetic evidence.
RESULTS
Fifty-eight trials (n = 26,351 patients) were identified. Seven fluid types were evaluated. Among patients with sepsis and surgery, balanced crystalloids and albumin achieved better survival, fewer acute kidney injury, and smaller blood transfusion volumes than saline and L-HES. In those with sepsis, balanced crystalloids significantly reduced mortality more than saline (OR 0.84; 95% CI 0.74-0.95) and L-HES (OR 0.81; 95% CI 0.69-0.95) and reduced acute kidney injury more than L-HES (OR 0.80; 95% CI 0.65-0.99). However, they required the greatest resuscitation volume among all fluid types, especially in trauma patients. In patients with traumatic brain injury, saline and L-HES achieved lower mortality than albumin and balanced crystalloids; especially saline was significantly superior to iso-oncotic albumin (OR 0.55; 95% CI 0.35-0.87).
CONCLUSIONS
Our network meta-analysis found that balanced crystalloids and albumin decreased mortality more than L-HES and saline in sepsis patients; however, saline or L-HES was better than iso-oncotic albumin or balanced crystalloids in traumatic brain injury patients.
TRIAL REGISTRATION
PROSPERO website, registration number: CRD42018115641).
Topics: Colloids; Crystalloid Solutions; Fluid Therapy; Humans; Network Meta-Analysis; Postoperative Complications; Randomized Controlled Trials as Topic; Resuscitation; Sepsis; Wounds and Injuries
PubMed: 33317590
DOI: 10.1186/s13054-020-03419-y -
The Cochrane Database of Systematic... Sep 2022Although various solutions have been recommended for cleansing wounds, normal saline is favoured as it is an isotonic solution and is not thought to interfere with the... (Review)
Review
BACKGROUND
Although various solutions have been recommended for cleansing wounds, normal saline is favoured as it is an isotonic solution and is not thought to interfere with the normal healing process. Tap water is commonly used in community settings for cleansing wounds because it is easily accessible, efficient and cost-effective; however, there is an unresolved debate about its use.
OBJECTIVES
To assess the effects of water for wound cleansing.
SEARCH METHODS
For this fifth update, in May 2021 we searched the Cochrane Wounds Specialised Register; the Cochrane Central Register of Controlled Trials (CENTRAL); Ovid MEDLINE; Ovid Embase and EBSCO CINAHL Plus. We also searched clinical trials registries for ongoing and unpublished studies, and scanned reference lists of relevant included studies as well as reviews, meta-analyses and health technology reports to identify additional studies. There were no restrictions with respect to language, date of publication or study setting.
SELECTION CRITERIA
We included all randomised controlled trials (RCTs) that assessed wound cleansing using different types of water (e.g. tap water, distilled, boiled) compared with no cleansing or with other solutions (e.g. normal saline). For this update, we excluded quasi-RCTs, thereby removing some studies which had been included in the previous version of the review.
DATA COLLECTION AND ANALYSIS
Two review authors independently carried out trial selection, data extraction and GRADE assessment of the certainty of evidence.
MAIN RESULTS
We included 13 trials in this update including a total of 2504 participants ranging in age from two to 95 years. Participants in the trials experienced open fractures, surgical wounds, traumatic wounds, anal fissures and chronic wounds. The trials were conducted in six different countries with the majority conducted in India and the USA. Three trials involving 148 participants compared cleansing with tap water with no cleansing. Eight trials involving 2204 participants assessed cleansing with tap water compared with cleansing with normal saline. Two trials involving 152 participants assessed cleansing with distilled water compared with cleansing with normal saline. One trial involving 51 participants also assessed cleansing with cooled boiled water compared with cleansing with normal saline, and cleansing with distilled water compared with cleansing with cooled boiled water. Wound infection: no trials reported on wound infection for the comparison cleansing with tap water versus no cleansing. For all wounds, eight trials found the effect of cleansing with tap water compared with normal saline is uncertain (risk ratio (RR) 0.84, 95% confidence interval (CI) 0.59 to 1.19); very low-certainty evidence. Two trials comparing the use of distilled water with normal saline for cleansing open fractures found that the effect on the number of fractures that were infected is uncertain (RR 0.70, 95% CI 0.45 to 1.09); very low-certainty evidence. One trial compared the use of cooled boiled water with normal saline for cleansing open fractures and found that the effect on the number of fractures infected is uncertain (RR 0.83, 95% CI 0.37 to 1.87); very low-certainty evidence. This trial also compared the use of distilled water with cooled boiled water and found that the effect on the number of fractures infected is uncertain (RR 0.59, 95% CI 0.24 to 1.47); very low-certainty evidence. Wound healing: results from three trials comparing the use of tap water with no wound cleansing demonstrated there may be little or no difference in the number of wounds that did not heal between the groups (RR 1.04, 95% CI 0.95 to 1.14); low-certainty evidence. The effect of tap water compared with normal saline is uncertain; two trials were pooled (RR 0.57, 95% CI 0.30 to 1.07) but the certainty of the evidence is very low. Results from one study comparing the use of distilled water with normal saline for cleansing open fractures found that there may be little or no difference in the number of fractures that healed (RR could not be estimated, all wounds healed); the certainty of the evidence is low. Reduction in wound size: the effect of cleansing with tap water compared with normal saline on wound size reduction is uncertain (RR 0.97, 95% CI 0.56 to 1.68); the certainty of the evidence is very low. Rate of wound healing: the effect of cleansing with tap water compared with normal saline on wound healing rate is uncertain (mean difference (MD) -3.06, 95% CI -6.70 to 0.58); the certainty of the evidence is very low.
COSTS
two trials reported cost analyses but the cost-effectiveness of tap water compared with the use of normal saline is uncertain; the certainty of the evidence is very low. Pain: results from one study comparing the use of tap water with no cleansing for acute and chronic wounds showed that there may be little or no difference in pain scores. The certainty of the evidence is low. Patient satisfaction: results from one study comparing the use of tap water with no cleansing for acute and chronic wounds showed that there may be little or no difference in patient satisfaction. The certainty of evidence is low. The effect of cleansing with tap water compared with normal saline is uncertain as the certainty of the evidence is very low.
AUTHORS' CONCLUSIONS
All the evidence identified in the review was low or very low certainty. Cleansing with tap water may make little or no difference to wound healing compared with no cleansing; there are no data relating to the impact on wound infection. The effects of cleansing with tap water, cooled boiled water or distilled water compared with cleansing with saline are uncertain, as is the effect of distilled water compared with cooled boiled water. Data for other outcomes are limited across all the comparisons considered and are either uncertain or suggest that there may be little or no difference in the outcome.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Drinking Water; Fractures, Open; Humans; Middle Aged; Pain; Saline Solution; Sodium Chloride; Therapeutic Irrigation; Wound Infection; Young Adult
PubMed: 36103365
DOI: 10.1002/14651858.CD003861.pub4 -
Ophthalmic Epidemiology Oct 2022To systematically review and critically appraise clinical practice guidelines (CPGs) and summarise the recommendations for non-infectious and infectious conjunctivitis. (Review)
Review
PURPOSE
To systematically review and critically appraise clinical practice guidelines (CPGs) and summarise the recommendations for non-infectious and infectious conjunctivitis.
METHODS
CPGs published on non-infectious and infectious conjunctivitis between 2010 and March 2020 were reviewed, evaluated, and selected using nine items from the Appraisal of Guidelines for Research and Evaluation II tool (4, 7, 8, 10, 12, 13, 15, 22 and 23). CPGs with an average score for items 4, 7, 8, 12, or 22 below 3 and/or a sum of the two researchers' average score for all nine items less than 45 were excluded. Two authors independently extracted and validated the data using standardised forms.
RESULTS
Fifteen CPGs from five sources remained for data extraction. CPGs consistently recommended non-pharmacological interventions (artificial tears, cold compress, avoidance or removal of allergens) for non-infectious conjunctivitis and pharmacological interventions (topical anti-histamine, mast-cell stabiliser and dual-acting agent) for allergy types. Observation without treatment was strongly recommended for non-herpetic viral and bacterial infections. Systemic and topical anti-viral was consistently recommended for herpetic viral conjunctivitis, while systemic and topical antibiotics were recommended for and conjunctivitis. The methods used to assess the level of evidence and the strength of recommendation varied among CPGs.
CONCLUSIONS
There are a number of high-quality CPGs for non-infectious and infectious conjunctivitis. While there were a number of consistencies in the recommendations provided within these CPGs, several inconsistencies were also identified. Many of which related to the scope of practise of the targeted end-user of the particular guideline.
Topics: Anti-Bacterial Agents; Conjunctivitis; Humans; Lubricant Eye Drops
PubMed: 34459321
DOI: 10.1080/09286586.2021.1971262 -
The Cochrane Database of Systematic... Oct 2022Dry eye disease (DED), arising from various etiologic factors, leads to tear film instability, ocular surface damage, and neurosensory changes. DED causes symptoms such... (Review)
Review
BACKGROUND
Dry eye disease (DED), arising from various etiologic factors, leads to tear film instability, ocular surface damage, and neurosensory changes. DED causes symptoms such as ocular dryness, burning, itching, pain, and visual impairment. Given their well-established anti-inflammatory effects, topical steroid preparations have been widely used as a short-term treatment option for DED. Because of potential risks of ocular hypertension, cataracts, and infections associated with the long-term use of topical steroids, published trials comparing the efficacy and safety of topical steroids (versus placebo) have mostly been of short duration (three to eight weeks).
OBJECTIVES
To evaluate the effectiveness and safety of topical corticosteroids compared with no treatment, placebo, other steroidal or non-steroidal therapies, or a combination of therapies for DED.
SEARCH METHODS
We searched the Cochrane Central Register of Controlled Trials (CENTRAL, which contains the Cochrane Eyes and Vision Trials Register; 2021, Issue 8); Ovid MEDLINE; Ovid Embase; Latin American and Caribbean Health Sciences database (LILACS); ClinicalTrials.gov; and the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP), without restriction on language or year of publication. The date of the last search was 20 August 2021.
SELECTION CRITERIA
We included randomized controlled trials (RCTs) in which topical corticosteroids, alone or in combination with tobramycin, were compared with no treatment, artificial tears (AT), vehicles, AT plus tobramycin, or cyclosporine A (CsA).
DATA COLLECTION AND ANALYSIS
We applied standard Cochrane methodology.
MAIN RESULTS
We identified 22 RCTs conducted in the USA, Italy, Spain, China, South Korea, and India. These RCTs reported outcome data from a total of 4169 participants with DED. Study characteristics and risk of bias All trials recruited adults aged 18 years or older, except one trial that enrolled children and adolescents aged between 3 and 14 years. Half of these trials involved predominantly female participants (median 79%, interquartile range [IQR] 76% to 80%). On average, each trial enrolled 86 participants (IQR 40 to 158). The treatment duration of topical steroids ranged between one week and three months; trial duration lasted between one week and six months. Eight trials were sponsored exclusively by industry, and four trials were co-sponsored by industry and institutional or governmental funds. We assessed the risk of bias of both subjective and objective outcomes using RoB 2, finding nearly half of the trials to be at high risk of bias associated with selective outcome reporting. Findings Of the 22 trials, 16 evaluated effects of topical steroids, alone or in combination with tobramycin, as compared with lubricants (AT, vehicle), AT plus tobramycin, or no treatment. Corticosteroids probably have a small to moderate effect on improving patient-reported symptoms by 0.29 standardized mean difference (SMD) (95% confidence interval [CI] 0.16 to 0.42) as compared with lubricants (moderate certainty evidence). Topical steroids also likely have a small to moderate effect on lowering corneal staining scores by 0.4 SMDs (95% CI 0.18 to 0.62) (moderate certainty evidence). However, steroids may increase tear film break-up time (TBUT) slightly (mean difference [MD] 0.70 s, 95% CI 0.06 to 1.34; low certainty evidence) but not tear osmolarity (MD 1.60 mOsm/kg, 95% CI -10.47 to 13.67; very low certainty evidence). Six trials examined topical steroids, either alone or in combination with CsA, against CsA alone. Low certainty evidence indicates that steroid-based interventions may have a small to moderate effect on improving participants' symptoms (SMD -0.33, 95% CI -0.51 to -0.15), but little to no effect on corneal staining scores (SMD 0.05, 95% CI -0.25 to 0.35) as compared with CsA. The effect of topical steroids compared to CsA alone on TBUT (MD 0.37 s, 95% CI -0.13 to 0.87) or tear osmolarity (MD 5.80 mOsm/kg, 95% CI -0.94 to 12.54; loteprednol etabonate alone) is uncertain because the certainty of the evidence is low or very low. None of the included trials reported on quality of life scores. Adverse effects The evidence for adverse ocular effects of topical corticosteroids is very uncertain. Topical corticosteroids may increase participants' risk of intraocular pressure (IOP) elevation (risk ratio [RR] 5.96, 95% CI 1.30 to 27.38) as compared with lubricants. However, when compared with CsA, steroids alone or combined with CsA may decrease or increase IOP elevation (RR 1.45, 95% CI 0.25 to 8.33). It is also uncertain whether topical steroids may increase risk of cataract formation when compared with lubricants (RR 0.34, 95% CI 0.01 to 8.22), given the short-term use and study duration (four weeks or less) to observe longer-term adverse effects. AUTHORS' CONCLUSIONS: Overall, the evidence for the specified review outcomes was of moderate to very low certainty, mostly due to high risk of bias associated with selective results reporting. For dry eye patients whose symptoms require anti-inflammatory control, topical corticosteroids probably provide small to moderate degrees of symptom relief beyond lubricants, and may provide small to moderate degrees of symptom relief beyond CsA. However, the current evidence is less certain about the effects of steroids on improved tear film quality or quantity. The available evidence is also very uncertain regarding the adverse effects of topical corticosteroids on IOP elevation or cataract formation or progression. Future trials should generate high certainty evidence to inform physicians and patients of the optimal treatment strategies with topical corticosteroids in terms of regimen (types, formulations, dosages), duration, and its time-dependent adverse profile.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Male; Adrenal Cortex Hormones; Cataract; Cyclosporine; Dry Eye Syndromes; Glucocorticoids; Loteprednol Etabonate; Lubricant Eye Drops; Randomized Controlled Trials as Topic; Tobramycin
PubMed: 36269562
DOI: 10.1002/14651858.CD015070.pub2 -
Systematic Reviews Jan 2023Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Rett syndrome is a rare, severe neurodevelopmental disorder. Almost all cases occur in girls, in association with spontaneous (non-inherited) mutations involving the methyl-CpG-binding protein 2 gene located on the X chromosome. Diagnostic criteria for typical Rett syndrome require a period of regression, followed by recovery or stabilization, and fulfillment of all four main criteria (loss of purposeful hand skills, loss of spoken language, gait abnormalities, and stereotypic hand movements). Our objective was to estimate the prevalence of Rett syndrome in the general population, stratified by sex.
METHODS
We conducted a search of PubMed, Embase, Web of Science, Cochrane Library, LILACS, and LIVIVO to retrieve studies published in English between Jan. 1, 2000, and June 30, 2021. Pooled prevalence with a 95% confidence interval (CI) was estimated using a random-effects meta-analysis based on a generalized linear mixed model with a logit link.
RESULTS
Ten eligible studies were identified (all in females), with a combined sample size of 9.57 million women and 673 Rett syndrome cases. The pooled prevalence estimate (random effects) was 7.1 per 100,000 females (95% CI: 4.8, 10.5, heterogeneity p < 0.001). Despite greatly variable precision of estimation, all estimates were compatible with a prevalence range of approximately 5 to 10 cases per 100,000 females based on their respective 95% CIs.
CONCLUSION
These findings may facilitate planning of therapeutic trials in this indication in terms of target sample size and accrual times.
Topics: Humans; Female; Rett Syndrome; Methyl-CpG-Binding Protein 2; Prevalence; Mutation
PubMed: 36642718
DOI: 10.1186/s13643-023-02169-6