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Child's Nervous System : ChNS :... Dec 2021Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early... (Review)
Review
PURPOSE
Posterior plagiocephaly (PP) is a common clinical condition in pediatric age. There are two main causes of PP: postural plagiocephaly and craniosynostosis. Early diagnosis is important, as it prevents neurological complications and emergencies. Diagnosis in the past was often made late and with imaging tests that subjected the infant to a high radiation load. Suture ultrasound does not use ionizing radiation; it is easy to perform, allows an early diagnosis, and directs toward the execution of the cranial 3D-CT scan, neurosurgical consultation, and possible intervention. The aim of the study is to describe the high sensitivity and specificity of suture ultrasound for the differential diagnosis between plagiocephaly and craniosynostosis.
METHODS
We reported our prospective experience and compared it with the data in the literature through a systematic review. The systematic review was conducted on electronic medical databases (PubMed, Embase, Cochrane Library, Scopus, and Web of Science) evaluating the published literature up to November 2020. According to Preferred Reporting Items for Systematic Reviews and Meta-ANALYSES (PRISMA statement), we identified 2 eligible studies. Additionally, according to AMSTAR 2, all included reviews have been critically rated as high quality. A total of 120 infants with abnormal skull shape were examined in NICU. All underwent clinical and ultrasound examination.
RESULTS
Of the total, 105 (87.5%) had plagiocephaly and 15 dolichocephaly/scaphocephaly (12.5%). None of these had associated other types of malformations and/or neurological disorders. The synostotic suture was identified ultrasonographically in 1 infant and subsequently confirmed by 3D CT scan (100%).
CONCLUSION
Cranial sutures ultrasonography can be considered in infants a selective, excellent screening method for the evaluation of skull shape deformities as first technique before the 3D CT scan exam and subsequent neurosurgical evaluation. Cranial suture ultrasonography should be considered part of clinical practice especially for pediatricians.
Topics: Child; Cranial Sutures; Craniosynostoses; Humans; Infant; Plagiocephaly; Prospective Studies; Skull; Sutures; Ultrasonography
PubMed: 34453581
DOI: 10.1007/s00381-021-05324-3 -
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 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2017Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast... (Review)
Review
BACKGROUND
Apert Syndrome (AS), or type I acrocephalosyndactyly, is a rare, congenital craniosynostosis condition resulting from missense mutations in the gene encoding fibroblast growth factor receptor 2. It is characterized by three specific clinical features: brachycephalic skull; midface hypoplasia, and limb abnormalities (syndactyly of hands and feet). The disorder exhibits variable presentations in bones, brain, skin, internal organs, and in the oral/maxillofacial region. The aim of the present paper was to show the main results from a systematic review of AS.
MATERIAL AND METHODS
A search of the literature was performed from April to June 2016 in five electronic databases. Clinical interventional or observational studies, reviews, and case reports were included. The present systematic review was carried out strictly following PRISMA and Cochrane Collaboration criteria.
RESULTS
A total of 129 potential references were identified. After reviewing titles and abstracts, 77 of these did not meet the desired criteria and were discarded. The full text of the remaining 52 manuscripts was critically screened. Finally, 35 relevant papers were identified for inclusion in the present systematic review and classified according to topic type.
CONCLUSIONS
According to the information gathered, dentistry practitioners must be able to supply an early diagnosis through the recognition of AS clinical features and provide correct oral management. Additionally, they should be integrated in a multidisciplinary medical care team in order to improve the quality of life of the affected patients.
Topics: Acrocephalosyndactylia; Child; Dental Care; Humans
PubMed: 29053644
DOI: 10.4317/medoral.21628 -
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 -
Pediatric Neurosurgery 2022Craniosynostosis is a condition characterized by the premature fusion of 2 or more skull bones. Craniosynostosis of the lambdoid suture is one of the rarest forms,...
BACKGROUND
Craniosynostosis is a condition characterized by the premature fusion of 2 or more skull bones. Craniosynostosis of the lambdoid suture is one of the rarest forms, accounting for 1-4% of all craniosynostoses. Documented cases are separated into simple (single suture), complex (bilateral), and associated with adjacent synostoses ("Mercedes Benz" Pattern) or syndromes (i.e., Crouzon, Sathre-Chotzen, Antley-Bixler). This condition can manifest phenotypic deformities and neurological sequelae that can lead to impaired cognitive function if improperly treated or left undiagnosed. Preferred surgical techniques have varied over time but all maintain the common goals of establishing proper head shape and preventing of complications that could contribute to aforementioned sequelae.
SUMMARY
This comprehensive review highlights demographic distributions, embryological development, pathogenesis, clinical presentation, neurological sequelae, radiologic findings, surgical techniques, surgical outcomes, and postoperative considerations of patients with lambdoid craniosynostosis presentation. In addition, a systematic review was conducted to explore the operative management of lambdoid craniosynostosis using PubMed, Embase, and Scopus databases, with 38 articles included after screening. Key Messages: Due to a low volume of published cases, diagnosis and treatment can vary. Large overlap in presentation can occur in patients that display lambdoid craniosynostosis and posterior plagiocephaly, furthering the need for comprehensive analysis. Possessing the knowledge and tools to properly assess patients with lambdoid craniosynostosis will allow for more precise care and improved outcomes.
Topics: Cranial Sutures; Craniosynostoses; Humans; Infant; Neurosurgical Procedures; Plagiocephaly; Skull
PubMed: 34864743
DOI: 10.1159/000519175 -
Journal of Neurosurgery. Pediatrics Jan 2023The current literature on unilateral coronal craniosynostosis is replete with repair techniques and surgical outcomes; however, information regarding neurodevelopment... (Meta-Analysis)
Meta-Analysis
OBJECTIVE
The current literature on unilateral coronal craniosynostosis is replete with repair techniques and surgical outcomes; however, information regarding neurodevelopment remains unclear. Therefore, the aim of this systematic review and meta-analysis was to comprehensively assess the neurodevelopmental outcomes of patients with unicoronal craniosynostosis compared with their healthy peers or normative data.
METHODS
A systematic review of the Ovid MEDLINE, Embase, Web of Science, Scopus, Cochrane Library, and ClinicalTrials.gov databases from database inception to January 19, 2022, was performed. Included studies assessed neurodevelopment of patients with unicoronal craniosynostosis. Two independent reviewers selected studies and extracted data based on a priori inclusion and exclusion criteria. Results of developmental tests were compared with normative data or controls to generate Hedges' g statistics for meta-analysis. The quality of included studies was evaluated using the National Institutes of Health Assessment Tool.
RESULTS
A total of 19 studies were included and analyzed, with an overall fair reporting quality. A meta-analysis of 325 postoperative patients demonstrated that scores of general neurodevelopment were below average but within one standard deviation of the norm (Hedges' g = -0.68 [95% CI -0.90 to -0.45], p < 0.001). Similarly, postoperative patients exhibited lower scores in verbal, psychomotor, and mathematic outcome assessments.
CONCLUSIONS
This systematic review and meta-analysis found that patients with unicoronal craniosynostosis had poorer neurodevelopment, although scores generally remained within the normal range. These data may guide implementation of regular neurocognitive assessments and early learning support of patients with unicoronal craniosynostosis.
Topics: United States; Humans; Craniosynostoses; Outcome Assessment, Health Care; Databases, Factual
PubMed: 36272117
DOI: 10.3171/2022.9.PEDS22283 -
International Journal of Environmental... Jun 2022Zika virus (ZIKV) infection during pregnancy is a cause of pregnancy loss and multiple clinical and neurological anomalies in children. This systematic review aimed to... (Meta-Analysis)
Meta-Analysis Review
Zika virus (ZIKV) infection during pregnancy is a cause of pregnancy loss and multiple clinical and neurological anomalies in children. This systematic review aimed to assess the effect of ZIKV exposure in utero on the long-term neurodevelopment of normocephalic children born to women with ZIKV infection in pregnancy. This review was conducted according to the PRISMA guidelines for systematic reviews and meta-analyses. We performed a random effects meta-analysis to estimate the cross-study prevalence of neurodevelopmental delays in children using the Bayley Scales for Infant and Toddler Development (BSID-III). The risk of bias was assessed using Cochrane's Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. Full-text reviews were performed for 566 articles, and data were extracted from 22 articles corresponding to 20 studies. Nine articles including data from 476 children found 6.5% (95% CI: 4.1-9.3) of infants and children to have any type of non-language cognitive delay; 29.7% (95% CI: 21.7-38.2) to have language delay; and 11.5% (95% CI: 4.8-20.1) to have any type of motor delay. The pooled estimates had a high level of heterogeneity; thus, results should be interpreted with caution. Larger prospective studies that include a non-exposed control group are needed to confirm whether ZIKV exposure in utero is associated with adverse child neurodevelopmental outcomes.
Topics: Craniosynostoses; Female; Humans; Infant; Infant, Newborn; Pregnancy; Pregnancy Complications, Infectious; Prospective Studies; Zika Virus; Zika Virus Infection
PubMed: 35742566
DOI: 10.3390/ijerph19127319 -
Annals of Medicine and Surgery (2012) May 2022Cleidocranial dysplasia (CCD) is a rare disease characterized by craniofacial, skeletal, and oral anomalies. The disease prevalence is estimated to be 1 per million... (Review)
Review
INTRODUCTION
Cleidocranial dysplasia (CCD) is a rare disease characterized by craniofacial, skeletal, and oral anomalies. The disease prevalence is estimated to be 1 per million inhabitants; thus, only a few studies have described large cohorts of CCD patients. This study reviewed the clinical-radiological and demographic characteristics of patients with CCD in South America.
METHODS
We conducted a systematic review of all cases of CCD reported in South America following the PRISMA guidelines. Demographic information (sex, age at diagnosis, origin, reason for consultation, and family history) was also recorded. CCD signs were divided into "craniofacial" and "skeletal" categories.
RESULTS
A total of 72 cases were included. We found that oral anomalies were the most common reason for consultation leading to a diagnosis in patients, with a median age at diagnosis of 14 years. Fifty percent of the patients were women. Open fontanels or cranial sutures, the presence of at least one of the typical CCD facies (frontal bossing, brachycephaly, hypertelorism, or depression of the nasal bridge), and supernumerary teeth were reported in 92%, 85%, and 88% of cases, respectively. Clavicular dysplasia was present in 98.6% of cases, and other skeletal abnormalities such as scoliosis, pubic symphysis diastasis, and flat feet were found; short stature was present in 71% of cases, and one case presented cognitive deficits.
CONCLUSION
Although the phenotypic spectrum of CCD is variable, clavicular dysplasia, open fontanels or cranial sutures, dental anomalies, and at least one of the typical CCD facies are present in at least 80% of cases.
PubMed: 35638029
DOI: 10.1016/j.amsu.2022.103611 -
Child's Nervous System : ChNS :... Dec 2023This study provides a systematic review on cosmetic satisfaction and other patient-reported outcomes (PROMs) of patients who underwent surgical treatment of SSC. (Review)
Review
PURPOSE
This study provides a systematic review on cosmetic satisfaction and other patient-reported outcomes (PROMs) of patients who underwent surgical treatment of SSC.
METHODS
A systematic review of all articles published from inception to 1 June 2022 was performed. Articles were included if they reported on subjective assessment of cosmetic satisfaction or other PROMs by patients or their families using questionnaires or interviews.
RESULTS
Twelve articles, describing 724 surgical treatments of SSC, met the inclusion criteria. Cosmetic satisfaction was evaluated in the following ways: 1) use of the VAS score, binary questions or a 5-point scale to rate general, facial or skull appearance; 2) use of an aesthetic outcome staging in which personal opinion was added to the treating surgeon's opinion; and 3) use of an evaluation of anatomical proportions of the skull and face. A trend towards an overall improvement in cosmetic satisfaction following surgical treatment of SSC was observed. Reported PROMs included general health, socioeconomic status, patients' and their families' rating of the normalcy and noticeability of their appearance and how much this bothered them, and patients' answers to the Youth Quality of Life with Facial Differences (YQOL-FD) questionnaire. No clear overall trend of the reported PROMs was identified.
CONCLUSION
This systematic review illuminates that there is a wide variation in outcomes for evaluating cosmetic satisfaction and other PROMs of patients who underwent surgical treatment of SSC, suggesting that further research is needed to develop an inclusive and uniform approach to assess these outcomes.
Topics: Adolescent; Humans; Patient Satisfaction; Quality of Life; Craniosynostoses; Patient Reported Outcome Measures; Sutures; Personal Satisfaction
PubMed: 37477663
DOI: 10.1007/s00381-023-06063-3 -
Neurogastroenterology and Motility Jun 2022Nocebo effects occurring in patients receiving placebo frequently impact on adverse events reported in randomized controlled trials (RCTs) in irritable bowel syndrome... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Nocebo effects occurring in patients receiving placebo frequently impact on adverse events reported in randomized controlled trials (RCTs) in irritable bowel syndrome (IBS). Therefore, we conducted a systematic review and meta-analysis to assess the proportion of patients randomized to placebo or active drug experiencing any adverse event in trials of licensed drugs for IBS with constipation (IBS-C) or diarrhea (IBS-D), and to estimate the risk of developing adverse events among patients randomized to placebo.
METHODS
We searched MEDLINE, EMBASE CLASSIC and EMBASE, and the Cochrane central register of controlled trials (through June 2021) to identify RCTs comparing licensed drugs with placebo in adults with IBS-C or IBS-D. We generated Forest plots of pooled adverse event rates in both active drug and placebo arms and pooled risk differences (RDs) with 95% confidence intervals (CIs).
KEY RESULTS
There were 21 RCTs of licensed drugs versus placebo in IBS-C (5953 patients placebo) and 17 in IBS-D (3854 patients placebo). Overall, 34.9% and 46.9% of placebo patients in IBS-C and IBS-D trials, respectively, developed at least one adverse event, with a statistically significantly higher risk of any adverse event and withdrawal due to an adverse event with active drug. In IBS-C and IBS-D trials, rates of each individual adverse event were generally higher with active drug. However, in IBS-C trials, only diarrhea or headache was significantly more common with active drug (RD 0.066 (95% CI 0.043-0.088) and RD 0.011 (95% CI 0.002-0.021), respectively), and in IBS-D trials only constipation, nausea, or abdominal pain (RD 0.096 (95% CI 0.054-0.138), 0.014 (95% CI 0.002-0.027), and 0.018 (95% CI 0.002-0.034), respectively).
CONCLUSIONS & INFERENCES
Patients with IBS randomized to placebo have a high risk of reporting adverse events, which might relate to both nocebo and non-nocebo factors. Although patients' expectations and psychosocial factors may be involved, further understanding of the mechanisms are important to control or optimize these effects in RCTs, as well as in clinical practice.
Topics: Abdominal Pain; Adult; Constipation; Craniosynostoses; Diarrhea; Humans; Intellectual Disability; Irritable Bowel Syndrome; Nocebo Effect; Randomized Controlled Trials as Topic
PubMed: 34672052
DOI: 10.1111/nmo.14279