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Journal of Clinical Medicine Jun 2024Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age,...
Floating-Harbor syndrome (FHS) is an extremely rare genetic disorder connected with a distinctive facial appearance, various skeletal malformations, delayed bone age, and expressive language delays. It is caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The aim of this paper is to describe the case of a 14-year-old male with FHS, referring to a review of the literature, and to collect all reported symptoms. In addition, the orthodontic treatment of the patient is described. For this, the electronic databases PubMed and Scopus were searched using the keyword "Floating-Harbor syndrome". Similar to previous cases in the literature, the patient presented with short stature; a triangular face with a large bulbous nose; deep-set eyes and narrow eyelid gaps; a wide mouth with a thin vermilion border of the upper lip; and dorsally rotated, small ears. They also presented some less-described symptoms, such as macrodontia and micrognathia. Moreover, mild mental retardation, microcephaly, and delayed psychomotor development were found. On the basis of an extraoral, intraoral examination, X-rays, and CBCT, he was diagnosed with overbite, canine class I and angle class III, on both sides. To the best of our knowledge, orthodontic treatment of this disease has not been assessed in detail so far, so this is the first case.
PubMed: 38929963
DOI: 10.3390/jcm13123435 -
Revista Paulista de Pediatria : Orgao... 2023To systematically review studies on the effects of early stimulation on the neuropsychomotor development of children with microcephaly.
OBJECTIVE
To systematically review studies on the effects of early stimulation on the neuropsychomotor development of children with microcephaly.
DATA SOURCE
A systematic review was conducted in PubMed/MEDLINE, Virtual Health Library, and Cochrane Library databases. Studies that addressed the use of early stimulation in playful and interactive environments in children with microcephaly were included. There were no restrictions on the publication date or language of the studies. The outcomes assessed were muscle tone, social interaction, fine and gross motor skills, intelligence quotient, socioemotional and adaptive behavior of the child. The methodological quality and the scientific evidence level were assessed using the Risk of Bias in Non-randomized Studies of Interventions, the Revised Cochrane risk of bias tool for randomized trials and the Grading of Recommendations Assessment, Development and Evaluation.
DATA SYNTHESIS
264 articles were identified, but only 7 met the eligibility criteria. The included studies had a total population of 125 individuals, with sample sizes ranging from 1 to 71 participants.
CONCLUSIONS
The studies showed low evidence of an effect of early intervention on the outcomes muscle tone, social interaction, fine and gross motor skills, intelligence quotient, and socioemotional and adaptive behavior in children with microcephaly. However, further randomized clinical trials are needed.
Topics: Child; Humans; Microcephaly; Adaptation, Psychological
PubMed: 38126439
DOI: 10.1590/1984-0462/2024/42/2023063 -
Prenatal Diagnosis Apr 2024Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities.
METHODS
Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model.
RESULTS
Thirty studies were included (n = 1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%-36%; I = 72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%-34%; I = 74%]; (b) single CNS anomaly; 16% [95% CI 10%-23%; I = 41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%-40%; I = 56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%-57%; I = 68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus.
CONCLUSIONS
Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.
Topics: Pregnancy; Female; Humans; Prospective Studies; Hydrocephalus; Nervous System Malformations; Karyotyping; Karyotype; Fetus; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 38054560
DOI: 10.1002/pd.6466 -
BMC Pregnancy and Childbirth Aug 2023Bipolar disorder (BD) is a mental disorder characterized by mood shifts from severe depression to mania. Pregnant women with BD may experience manic or depressive...
BACKGROUND
Bipolar disorder (BD) is a mental disorder characterized by mood shifts from severe depression to mania. Pregnant women with BD may experience manic or depressive episodes, so they are usually concerned about the effects of BD on their pregnancy. The aim of this systematic review is to determine the effects of BD on maternal health and fetal health, weight, and development. It also addresses how BD affects the probability of incidence of pregnancy complications in women with bipolar compared with healthy controls.
METHODS
Seven electronic databases (Ovid MEDLINE, Embase, MIDRIS, APA PsychINFO, Scopus, Web of Science, and ScienceOpen) were searched, and 1728 eligible studies were identified. After deduplication, screening, and manual search processes, we included only 15 studies. Descriptive analysis, and calculation of the probability of incidence for each pregnancy outcome were used to analyze the results.
RESULTS
The findings of the included studies suggest that BD during pregnancy may affect both fetal growth and maternal health by increasing the risk of giving birth to an infant with some birth defects such as microcephaly, CNS problems, small for gestational age, and other congenital anomalies, in addition to causing some obstetric complications such as gestational hypertension, preterm labor, need for assisted delivery, hospital readmission, and others.
CONCLUSION
Bipolar disorder during pregnancy negatively affects mothers and their fetuses and increases the probability of incidence of obstetrics complications.
Topics: Infant; Infant, Newborn; Female; Pregnancy; Humans; Bipolar Disorder; Prenatal Care; Fetus; Psychotic Disorders; Parturition
PubMed: 37641006
DOI: 10.1186/s12884-023-05924-8 -
Revista Panamericana de Salud Publica =... 2023To assess the accumulated knowledge of the effects of public health emergencies of international concern on disease control and local health systems, and contribute to a... (Review)
Review
OBJECTIVES
To assess the accumulated knowledge of the effects of public health emergencies of international concern on disease control and local health systems, and contribute to a better understanding of their effects on health programs and systems.
METHODS
This was a systematic review of published and gray literature (in English, Portuguese, or Spanish). Electronic databases (BVS/LILACS, PubMed, and SciELO) and Google Scholar were searched. Search terms were: COVID-19 OR H1N1 OR Ebola OR Zika OR poliomyelitis AND (outbreaks OR epidemics) AND (public health systems OR public health surveillance).
RESULTS
A total of 3 508 studies were retrieved, of which 31 met the inclusion criteria. The studies addressed the effects of the emergencies on: communicable diseases notification systems; malaria, HIV/AIDS, tuberculosis, poliomyelitis, and malaria surveillance, control, and treatment; microcephaly; dengue; and vaccinations. The populations affected by the emergencies experienced reduced health services, which included fewer health visits, failures in the diagnostic chain, decrease in vaccination, and increased incidence or underreporting of notifiable diseases.
CONCLUSIONS
Socioeconomic inequity is a determinant of the effects of public health emergencies of international concern within affected populations. The diversion of resources and attention from health authorities disproportionately affects vulnerable populations and can lead, over time, to a weakening of health systems. The analysis of the effects of public health emergencies is important for the development of new protocols that can better respond to future crises.
PubMed: 37089787
DOI: 10.26633/RPSP.2023.74 -
Viruses Feb 2023The Zika virus outbreak has affected pregnant women and their infants. Affected infants develop microcephaly and other congenital malformations referred to as congenital... (Review)
Review
BACKGROUND
The Zika virus outbreak has affected pregnant women and their infants. Affected infants develop microcephaly and other congenital malformations referred to as congenital Zika syndrome. The neurological manifestations of congenital Zika syndrome may result in some feeding disorders, including dysphagia, swallowing dysfunction and choking while feeding. The aim of this study was to assess the prevalence of feeding and breastfeeding difficulties in children with congenital Zika syndrome and to estimate the risk of developing feeding disabilities.
METHODS
We searched PubMed, Google Scholar and Scopus for studies published from 2017 to 2021. From the total of 360 papers, reviews, systematic reviews, meta-analyses and publications in languages other than English were excluded. Therefore, the final sample of our study consisted of 11 articles about the feeding/breastfeeding difficulties of infants and children with congenital Zika syndrome.
RESULTS
Infants and children with congenital Zika syndrome were likely to suffer from feeding difficulties at various levels, including breastfeeding. Dysphagia problems ranged from 17.9% to 70%, and nutritional and non-nutritive suckling of infants was also affected.
CONCLUSIONS
In addition to continuing to investigate the neurodevelopment of affected children, future research should also focus on the severity of factors influencing the degree of dysphagia, as well as the impact of breastfeeding on the child's overall development.
Topics: Infant; Child; Child, Preschool; Humans; Pregnancy; Female; Zika Virus Infection; Breast Feeding; Pregnancy Complications, Infectious; Deglutition Disorders; Zika Virus
PubMed: 36992310
DOI: 10.3390/v15030601 -
Cureus Feb 2023Zika virus infection (ZIKV) was one of the most catastrophic epidemics. ZIKV in nonpregnant women is mild and sometimes asymptomatic. However, infection during pregnancy... (Review)
Review
Zika virus infection (ZIKV) was one of the most catastrophic epidemics. ZIKV in nonpregnant women is mild and sometimes asymptomatic. However, infection during pregnancy leads to congenital malformations in the fetus, while maternal signs of infection are preceded by a rash. The maternal-fetal infection begins with a rash that occurs early during pregnancy. The most severe pathologies were related to the first trimester of gestation, including microcephaly, musculoskeletal, genitourinary, craniofacial, ocular, and pulmonary manifestations. The prognosis may not be encouraging. Herd immunity increases CD8 (cytotoxic T-lymphocytes) earlier and decreases in the resolution phase. However, CD4 (T-helper cells) remains higher after infection. Recent ongoing vaccine development shows good immunity, control of the vector (Aedes mosquitoes), and treatment. ZIKV, anomalies, mortality, herd immunity, and vaccine were our main keywords. This systematic review demonstrates the teratogenesis of ZIKV in children, congenital anomalies, mortality, and a view of the future and behavior of ZIKV.
PubMed: 36909038
DOI: 10.7759/cureus.34735 -
International Journal of Molecular... Oct 2022The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the... (Review)
Review
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by systematic searches of four major databases. Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and additional clinical problems. In addition, the mutations were classified into five groups according to the severity of symptoms. The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor disabilities, language and cognitive impairments, and behavioral abnormalities (e.g., autistic-like or aggressive behavior). Nonsense and missense mutations occurring in exons 14 and 15 were classified in the normal clinical outcome category/group because they had presented an otherwise normal phenotype, except for eye abnormalities. A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. While mutations cannot be more generally categorized by location, it is generally observed that the C-terminal protein region (exons 13, 14, 15) correlates with a milder phenotype.
Topics: Pregnancy; Female; Humans; Codon, Nonsense; Phenotype; Intellectual Disability; Syndrome; Genotype; Mutation; Eye Abnormalities; beta Catenin
PubMed: 36293418
DOI: 10.3390/ijms232012564 -
Tropical Medicine and Infectious Disease Sep 2022Congenital microcephaly is caused by a multitude of drivers affecting maternal−fetal health during pregnancy. It is a rare outcome in high-income industrial countries... (Review)
Review
Congenital microcephaly is caused by a multitude of drivers affecting maternal−fetal health during pregnancy. It is a rare outcome in high-income industrial countries where microcephaly rates are in the range of 0.3−0.9 per 1000 newborns. Prevalence of microcephaly varies considerably across developing countries and can go as high as 58 cases per 1000 live births in pregnancies exposed to infection by Zika virus (ZIKV). Not only ZIKV-infected pregnancies, but other drivers can modulate the occurrence and severity of this outcome. Here, we sought to test the ZIKV−microcephaly association vs. competing hypotheses using a meta-analysis with 8341 microcephaly cases pooled from 10,250,994 newborns in the Americas, Africa, and Asia. Analysis of risk ratios (RR) showed teratogens the most likely microcephaly-associated risk factor (RR = 3.43; 95%-CI 2.69−4.38; p-value < 0.0001), while the statistical significance of the ZIKV−microcephaly association was marginal (RR = 2.12; 95%-CI 1.01−4.48; p-value = 0.048). Other congenital infections showed strong but variable associations with microcephaly (RR = 15.24; 95%-CI 1.74−133.70; p-value = 0.014). Microcephaly cases were associated with impoverished socioeconomic settings, but this association was statistically non-significant (RR = 2.75; 95%-CI 0.55−13.78; p-value = 0.22). The marginal ZIKV−microcephaly association and statistical significance of the competing hypotheses suggest maternal ZIKV infection might not be a cause of microcephaly alone.
PubMed: 36288003
DOI: 10.3390/tropicalmed7100261 -
Frontiers in Medicine 2022The aim of this study was to assess the accuracy of prenatal imaging for the diagnosis of congenital Zika syndrome.
OBJECTIVE
The aim of this study was to assess the accuracy of prenatal imaging for the diagnosis of congenital Zika syndrome.
DATA SOURCES
Medline (via Pubmed), PubMed, Scopus, Web of Science, and Google Scholar from inception to March 2022. Two researchers independently screened study titles and abstracts for eligibility.
STUDY ELIGIBILITY CRITERIA
Observational studies with Zika virus-infected pregnant women were included. The index tests included ultrasound and/or magnetic resonance imaging. The reference standard included (1) Zika infection-related perinatal death, stillbirth, and neonatal death within the first 48 h of birth, (2) neonatal intensive care unit admission, and (3) clinically defined adverse perinatal outcomes.
SYNTHESIS METHODS
We extracted 2 × 2 contingency tables. Pooled sensitivity and specificity were estimated using the random-effects bivariate model and assessed the summary receiver operating characteristic (ROC) curve. Risk of bias was assessed using QUADAS 2 tool. The certainty of the evidence was evaluated with grading of recommendations.
RESULTS
We screened 1,459 references and included 18 studies (2359 pregnant women, 347 fetuses with confirmed Zika virus infection). Twelve studies (67%) were prospective cohorts/case series, and six (37%) were retrospective cohort/case series investigations. Fourteen studies (78%) were performed in endemic regions. Ten studies (56%) used prenatal ultrasound only, six (33%) employed ultrasound and fetal MRI, and two studies (11%) used prenatal ultrasound and postnatal fetal MRI. A total of six studies (ultrasound only) encompassing 780 pregnant women (122 fetuses with confirmed Zika virus infection) reported relevant data for meta-analysis (gestation age at which ultrasound imagining was captured ranged from 16 to 34 weeks). There was large heterogeneity across studies regarding sensitivity (range: 12 to 100%) and specificity (range: 50 to 100%). Under a random-effects model, the summary sensitivity of ultrasound was 82% (95% CI, 19 to 99%), and the summary specificity was 97% (71 to 100%). The area under the ROC curve was 97% (95% CI, 72 to 100%), and the summary diagnostic odds ratio was 140 (95% CI, 3 to 7564, < 0.001). The overall certainty of the evidence was "very low".
CONCLUSION
Ultrasound may be useful in improving the diagnostic accuracy of Zika virus infection in pregnancy. However, the evidence is still substantially uncertain due to the methodological limitations of the available studies. Larger, properly conducted diagnostic accuracy studies of prenatal imaging for the diagnosis of congenital Zika syndrome are warranted.
SYSTEMATIC REVIEW REGISTRATION
Identifier [CRD42020162914].
PubMed: 36250095
DOI: 10.3389/fmed.2022.962765