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BMJ Paediatrics Open Oct 2023To estimate the prevalence of developmental dysplasia of the hip (DDH) in infants with a systematic review and meta-analysis. (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To estimate the prevalence of developmental dysplasia of the hip (DDH) in infants with a systematic review and meta-analysis.
METHOD
A literature search was conducted in April 2023, using databases such as Cochrane Library, PubMed, MEDLINE, CNKI, and SinoMed, without language restrictions. Eligible studies included cross-sectional studies reporting the prevalence of DDH among infants aged 0-12 months. Two independent reviewers manually selected and coded the studies, with any disagreements resolved by a third reviewer. Meta-analysis was performed using a random-effects model to calculate the prevalence of DDH. Regression analysis examined the trend of DDH prevalence, and stratification analysis explored heterogeneity between studies.
RESULTS
A total of 65 studies involving 3 451 682 infants were included in the meta-analysis. None of the studies were classified as high quality, four were medium-to-high quality, 50 were low-to-medium quality, and eight were low quality. The pooled prevalence of DDH was 1.40% (95% CI: 0.86 to 2.28, I=100%), and prevalence of dysplasia, subluxation, and dislocation was 1.45% (95% CI: 0.93 to 2.24, I=97%), 0.37% (95% CI: 0.22 to 0.60, I=94%), and 0.21% (95% CI: 0.13 to 0.34, I=92%), respectively. Notably, the overall prevalence has a slight upward trend in the last three decades (β=0.24, p=0.35), but the dysplasia was downward trend (β=-0.48, p<0.01). Girls have higher risk of DDH than boys (1.46% vs 0.66%; Q=5.83, df=1, p=0.02). There were no significant differences based on gender, country, setting, or screening technique.
CONCLUSION
The prevalence of DDH among infants is approximately one in a 100, with girls being at higher risk. Though the prevalence of dysplasia has decreased, there is a slight upward trend in overall DDH. Therefore, routine screening for DDH in infants is recommended to prevent more serious developmental problems.
Topics: Male; Female; Humans; Infant; Prevalence; Cross-Sectional Studies; Developmental Dysplasia of the Hip; Hip Dislocation, Congenital; Mass Screening
PubMed: 37879719
DOI: 10.1136/bmjpo-2023-002080 -
Ultrasound in Obstetrics & Gynecology :... Jul 2016Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Diagnosis of isolated posterior fossa anomalies in children is biased by the fact that only those that are symptomatic are brought to the attention of the appropriate clinical personnel, and the reported rate is often affected by the adoption of different nomenclature, diagnostic criteria, outcome measures, duration of follow-up and neurodevelopmental tools. The aim of this systematic review was to explore the neurodevelopmental outcome of fetuses with a prenatal diagnosis of isolated posterior fossa anomalies.
METHODS
MEDLINE and EMBASE were searched electronically, utilizing combinations of the relevant medical subject heading terms for 'posterior fossa' and 'outcome'. Studies assessing the neurodevelopmental outcome in children with a prenatal diagnosis of isolated posterior fossa malformations were considered eligible. The posterior fossa anomalies analyzed included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC) and vermian hypoplasia (VH). Two authors reviewed all abstracts independently. Quality assessment of the included studies was performed using the Newcastle-Ottawa Scale for cohort studies. Meta-analyses of proportions were used to combine data, and between-study heterogeneity was explored using the I(2) statistic.
RESULTS
A total of 1640 articles were identified; 95 were assessed for eligibility and a total of 16 studies were included in the systematic review. The overall rate of abnormal neurodevelopmental outcome in children with a prenatal diagnosis of DWM was 58.2% (95% CI, 21.8-90.0%) and varied from 0-100%. In those with a prenatal diagnosis of MCM, the rate of abnormal neurodevelopmental outcome was 13.8% (95% CI, 7.3-21.9%), with a range of 0-50%. There was no significant association between BPC and the occurrence of abnormal neurodevelopmental delay, with a rate of 4.7% (95% CI, 0.7-12.1%) and range of 0-5%. Although affected by the very small number of studies, there was a non-significant occurrence of abnormal neurodevelopmental delay in children with a prenatal diagnosis of VH, with a rate of 30.7% (95% CI, 0.6-79.1%) and range of 0-100%.
CONCLUSIONS
Fetuses diagnosed with isolated DWM are at high risk of abnormal neurodevelopmental outcome, while isolated MCM or BPC have a generally favorable outcome. The risk of abnormal developmental delay in cases with isolated VH needs to be further assessed. In view of the wide heterogeneity in study design, time of follow-up, neurodevelopmental tests used and the very small number of included cases, further future large prospective studies with standardized and objective protocols for diagnosis and follow-up are needed in order to ascertain the rate of abnormal neurodevelopmental outcome in children with isolated posterior fossa anomalies. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Cranial Fossa, Posterior; Female; Humans; Magnetic Resonance Imaging; Nervous System Malformations; Pregnancy; Pregnancy Outcome; Ultrasonography, Prenatal
PubMed: 26394557
DOI: 10.1002/uog.15755 -
International Journal of Molecular... Jan 2023PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion... (Review)
Review
PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements, and epilepsy. It is generally considered to be central nervous system disorders, with generalized weakness, associated hypotonia, cognitive and development deficits in early development, and seizures in late stages. Although it is classified predominantly as a central nervous syndrome disorder, some phenotypic features, such as myopathic facies, respiratory insufficiency of muscle origin, and myopathic features on muscle biopsy and electrodiagnostic evaluation, point to a peripheral (neuromuscular) source of weakness. Patients with PURA-NDD have been increasingly identified in exome-sequenced cohorts of patients with neuromuscular- and congenital myasthenic syndrome-like phenotypes. Recently, fluctuating weakness noted in a PURA-NDD patient, accompanied by repetitive nerve stimulation abnormalities, suggested the disease to be a channelopathy and, more specifically, a neuromuscular junction disorder. Treatment with pyridostigmine or salbutamol led to clinical improvement of neuromuscular function in two reported cases. The goal of this systematic retrospective review is to highlight the motor symptoms of PURA-NDD, to further describe the neuromuscular phenotype, and to emphasize the role of potential treatment opportunities of the neuromuscular phenotype in the setting of the potential role of PURA protein in the neuromuscular junction and the muscles.
Topics: Humans; Neuromuscular Junction; Myasthenic Syndromes, Congenital; Neurodevelopmental Disorders; Learning Disabilities; Epilepsy; Muscle Hypotonia; Nervous System Malformations; DNA-Binding Proteins; Transcription Factors
PubMed: 36768582
DOI: 10.3390/ijms24032260 -
European Journal of Vascular and... May 2009A persistent sciatic artery (PSA) is a rare vascular anomaly with an estimated incidence of 0.03-0.06%. During early embryonic development, the sciatic artery usually... (Review)
Review
BACKGROUND
A persistent sciatic artery (PSA) is a rare vascular anomaly with an estimated incidence of 0.03-0.06%. During early embryonic development, the sciatic artery usually disappears when the superficial femoral artery has developed properly. This study aimed to assess the clinical presentation and outcome of a PSA.
METHOD
A systematic review of all cases of PSA published between 1964 and 2007 was performed.
RESULTS
In this review, 159 PSAs were described in 122 patients. The mean age at which the PSA was discovered was 57 years, and the incidence was equally distributed with regards to gender. The majority of PSAs was unilateral (70%) and of the complete type (79%). Ninety-one patients (80%) presented with symptoms including intermittent claudication, ischaemia, a pulsating mass or neurological symptoms. An aneurysm was found in 48%, a stenosis in 7%, an occlusion of the PSA in 9% and an occlusion of an artery distal to the PSA in 6% of the subjects. The treatment depended on the symptoms and classification of the PSA. In nine cases (8%), an amputation was required eventually.
CONCLUSION
The PSA is a rare anomaly with a high incidence of complications including aneurysm formation and ischaemia that may lead to amputation. Strategies for follow-up could not be deduced from the available literature.
Topics: Angiography; Arteriovenous Malformations; Diagnosis, Differential; Global Health; Humans; Incidence; Leg; Prognosis; Stents; Ultrasonography, Doppler; Vascular Surgical Procedures
PubMed: 19231248
DOI: 10.1016/j.ejvs.2009.01.014 -
BMJ Open Nov 2023This study aims to estimate the prevalence of neural tube defects (NTDs) and to identify potential risk factors in the Ethiopian context. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
This study aims to estimate the prevalence of neural tube defects (NTDs) and to identify potential risk factors in the Ethiopian context.
STUDY DESIGN
Systematic review and meta-analysis.
STUDY PARTICIPANTS
A total of 611 064 participants were included in the review obtained from 42 studies.
METHODS
PubMed (Medline), Embase and Cochrane Library databases in combination with other potential sources of literature were systematically searched, whereby studies conducted between January 2010 and December 2022 were targeted in the review process. All observational studies were included and heterogeneity between studies was verified using Cochrane Q test statistics and I test statistics. Small study effects were checked using Egger's statistical test at a 5% significance level.
RESULT
The pooled prevalence of all NTDs per 10 000 births in Ethiopia was 71.48 (95% CI 57.80 to 86.58). The between-study heterogeneity was high (I= 97.49%, p<0.0001). Birth prevalence of spina bifida (33.99 per 10 000) was higher than anencephaly (23.70 per 10 000), and encephalocele (4.22 per 10 000). Unbooked antenatal care (AOR 2.26, 95% CI (1.30 to 3.94)), preconception intake of folic acid (AOR 0.41, 95% CI (0.26 to 0.66)), having chronic medical illness (AOR 2.06, 95% CI (1.42 to 2.99)), drinking alcohol (AOR 2.70, 95% CI (1.89 to 3.85)), smoking cigarette (AOR 2.49, 95% CI (1.51 to 4.11)), chewing khat (AOR 3.30, 95% CI (1.88 to 5.80)), exposure to pesticides (AOR 3.87, 95% CI (2.63 to 5.71)), maternal age ≥35 (AOR 1.90, 95% CI (1.13 to 3.25)), maternal low educational status (AOR 1.60, 95% CI (1.13 to 2.24)), residing in urban areas (AOR 0.75, 95% CI (0.58 to 0.97))and family history of NTDs (AOR 2.51, 95% CI (1.36 to 4.62)) were associated with NTD cases.
CONCLUSION
The prevalence of NTDs in Ethiopia is seven times as high as in other Western countries where prevention measures are put in place. Heredity, maternal and environmental factors are associated with a high prevalence of NTDs. Mandatory fortification of staple food with folic acid should be taken as a priority intervention to curb the burden of NTDs. To smoothen and overlook the pace of implementation of mass fortification, screening, and monitoring surveillance systems should be in place along with awareness-raising measures.
PROSPERO REGISTRATION NUMBER
CRD42023413490.
Topics: Female; Pregnancy; Humans; Prevalence; Ethiopia; Neural Tube Defects; Folic Acid; Risk Factors; Food, Fortified
PubMed: 37940152
DOI: 10.1136/bmjopen-2023-077685 -
Ultrasound in Obstetrics & Gynecology :... Aug 2022To evaluate the incidence of antenatally diagnosed brain injury in twin pregnancy complicated by twin-to-twin transfusion syndrome (TTTS) and to quantify the perinatal... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
To evaluate the incidence of antenatally diagnosed brain injury in twin pregnancy complicated by twin-to-twin transfusion syndrome (TTTS) and to quantify the perinatal mortality, morbidity and long-term neurodevelopmental outcome of these fetuses.
METHODS
MEDLINE, EMBASE, ClinicalTrials.gov and The Cochrane Library databases were searched. Inclusion criteria were studies reporting on brain abnormality diagnosed antenatally in twin pregnancies complicated by TTTS. The primary outcome was the incidence of prenatal brain abnormality. The secondary outcomes were intrauterine demise (IUD), neonatal death, termination of pregnancy (TOP) and long-term morbidity. Outcomes were explored in the population of fetuses with antenatal diagnosis of brain abnormality. Subgroup analysis according to the type of treatment, gestational age, Quintero stage at diagnosis and/or treatment, and cotwin death was planned. Meta-analysis of proportions was used to combine data and pooled proportions and their 95% CI were reported.
RESULTS
Thirteen studies including 1573 cases of TTTS and 88 fetuses with an antenatal diagnosis of brain abnormality were included in the systematic review. The meta-analysis included only studies reporting on brain abnormality in twin pregnancy complicated by TTTS cases and treated with laser surgery. Overall, brain injury occurred in 2.2% (52/2410) of fetuses (eight studies). Brain abnormality was reported in 1.03% and 0.82% of recipients and donors, respectively. The most common type of abnormality was ischemic lesions (30.4% (95% CI, 19.1-43.0%)), followed by destructive lesions (23.9% (95% CI, 13.7-35.9%)), ventriculomegaly (19.9% (95% CI, 10.6-31.3%)) and hemorrhagic lesions (15.3% (95% CI, 7.1-25.8%)). Spontaneous IUD occurred in 13.4% (95% CI, 5.1-24.8%) of fetuses, while TOP was chosen by parents in 53.5% (95% CI, 38.9-67.8%) cases. Neonatal death was reported by only three studies, with an incidence of 15.4% (95% CI, 2.8-35.4%). Finally, only two studies reported on composite morbidity, with an overall rate of the outcome of 20.4% (95% CI, 2.5-49.4%) and rates of 29.7% and 20.4% in the recipient and donor fetuses, respectively. Due to the small numbers, only composite morbidity was analyzed and no information on neonatal intensive care unit admission, respiratory distress syndrome or other long-term outcomes, such as neurodevelopmental delay and cerebral palsy, could be retrieved reliably.
CONCLUSIONS
The overall incidence of antenatally diagnosed fetal brain abnormality in twin pregnancy complicated by TTTS treated with laser surgery is around 2% and is mainly ischemic in nature (30.4%). TOP was chosen by parents in more than half of cases (53.5%). No information could be retrieved on morbidity outcomes, highlighting the urgent need for long-term follow-up studies of these children. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Brain; Brain Injuries; Child; Female; Fetofetal Transfusion; Gestational Age; Humans; Incidence; Infant, Newborn; Nervous System Malformations; Perinatal Death; Pregnancy; Pregnancy Outcome; Pregnancy, Twin
PubMed: 35233861
DOI: 10.1002/uog.24895 -
Pediatrics Jun 2015Children with ankyloglossia, an abnormally short, thickened, or tight lingual frenulum, may have restricted tongue mobility and sequelae, such as speech and feeding... (Review)
Review
BACKGROUND AND OBJECTIVE
Children with ankyloglossia, an abnormally short, thickened, or tight lingual frenulum, may have restricted tongue mobility and sequelae, such as speech and feeding difficulties and social concerns. We systematically reviewed literature on feeding, speech, and social outcomes of treatments for infants and children with ankyloglossia.
METHODS
Medline, PsycINFO, Cumulative Index of Nursing and Allied Health Literature, and Embase were searched. Two reviewers independently assessed studies against predetermined inclusion/exclusion criteria. Two investigators independently extracted data on study populations, interventions, and outcomes and assessed study quality.
RESULTS
Two randomized controlled trials, 2 cohort studies, and 11 case series assessed the effects of frenotomy on feeding, speech, and social outcomes. Bottle feeding and social concerns, such as ability to use the tongue to eat ice cream and clean the mouth, improved more in treatment groups in comparative studies. Supplementary bottle feedings decreased over time in case series. Two cohort studies reported improvement in articulation and intelligibility with treatment. Other benefits were unclear. One randomized controlled trial reported improved articulation after Z-frenuloplasty compared with horizontal-to-vertical frenuloplasty. Numerous noncomparative studies reported speech benefits posttreatment; however, studies primarily discussed modalities, with outcomes including safety or feasibility, rather than speech. We included English-language studies, and few studies addressed longer-term speech, social, or feeding outcomes; nonsurgical approaches, such as complementary and alternative medicine; and outcomes beyond infancy, when speech or social concerns may arise.
CONCLUSIONS
Data are currently insufficient for assessing the effects of frenotomy on nonbreastfeeding outcomes that may be associated with ankyloglossia.
Topics: Ankyloglossia; Breast Feeding; Child; Humans; Mouth Abnormalities; Treatment Outcome
PubMed: 25941312
DOI: 10.1542/peds.2015-0660 -
Orphanet Journal of Rare Diseases Aug 2019Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
RESULTS
Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR: 0.654 [0.408-1.046]; OR : 1.291 [0.860-1.939]) or palate anomalies (OR: 1.731 [0.708-4.234]; OR : 0.628 [0.286-1.382]).
CONCLUSIONS
The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
Topics: Arachnodactyly; Chromosome Deletion; Craniosynostoses; Humans; Marfan Syndrome; Phenotype
PubMed: 31399107
DOI: 10.1186/s13023-019-1170-x -
Frontiers in Endocrinology 2022Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to... (Meta-Analysis)
Meta-Analysis
UNLABELLED
Many patients with congenital adrenal hyperplasia (CAH) refrain from seeking pregnancy, suffer from infertility or worry about pregnancy complications, mainly due to genitalia abnormalities, anovulation, unreceptive endometrium and metabolic disturbances. Despite those challenges, many live births have been reported. In this systematic review, we focused on the key to successful assisted reproduction strategies and the potential pregnancy complications. We did a systematic literature search of Pubmed, Medline and Scopus for articles reporting successful pregnancies in CAH other than 21-hydroxylase deficiency, and found 25 studies reporting 39 pregnancies covering deficiency in steroidogenic acute regulatory protein, 17α-hydroxylase/17,20-lyase, 11β-hydroxylase, P450 oxidoreductase, cytochrome b5 and 3β-hydroxysteroid dehydrogenase. We summarized various clinical manifestations and tailored reproduction strategy for each subtype. Furthermore, a meta-analysis was performed to evaluate the pregnancy complications of CAH patients. A total of 19 cross-sectional or cohort studies involving 1311 pregnancies of classic and non-classic CAH patients were included. Surprisingly, as high as 5.5% (95% CI 2.3%-9.7%) of pregnancies were electively aborted, and the risk was significantly higher in those studies with a larger proportion of classic CAH than those with only non-classical patients (8.43% (4.1%-13.81%) VS 3.75%(1.2%-7.49%)), which called for better family planning. Pooled incidence of miscarriage was 18.2% (13.4%-23.4%) with a relative risk (RR) of 1.86 (1.27-2.72) compared to control. Glucocorticoid treatment in non-classical CAH patients significantly lowered the miscarriage rate when compared to the untreated group (RR 0.25 (0.13-0.47)). CAH patients were also more susceptible to gestational diabetes mellitus, with a prevalence of 7.3% (2.4%-14.1%) and a RR 2.57 (1.29-5.12). However, risks of preeclampsia, preterm birth and small for gestational age were not significantly different. 67.8% (50.8%-86.9%) CAH patients underwent Cesarean delivery, 3.86 (1.66-8.97) times the risk of the control group. These results showed that fertility is possible for CAH patients but special care was necessary when planning, seeking and during pregnancy.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=342642, CRD42022342642.
Topics: Abortion, Spontaneous; Adrenal Hyperplasia, Congenital; Cross-Sectional Studies; Cytochromes b5; Female; Glucocorticoids; Humans; Hydroxysteroid Dehydrogenases; Infant, Newborn; Pregnancy; Pregnancy Complications; Premature Birth; Reproduction; Steroid 17-alpha-Hydroxylase
PubMed: 36120452
DOI: 10.3389/fendo.2022.982953 -
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