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Developmental Neuropsychology Aug 2024It is not yet understood whether, and to what extent, craniosynostosis impacts the development of Attention Deficit/Hyperactivity Disorder (ADHD). This PRISMA compliant... (Meta-Analysis)
Meta-Analysis
It is not yet understood whether, and to what extent, craniosynostosis impacts the development of Attention Deficit/Hyperactivity Disorder (ADHD). This PRISMA compliant and PROSPERO pre-registered (ID: CRD42023458640) systematic review and meta-analysis examines the association of single-suture, non-syndromic craniosynostosis with ADHD and inattention/hyperactivity symptoms. Data from 17 independent studies ( = 2,389; = 7.3 years) were analyzed, taking into consideration suture location, surgical status, age, and measures administered, where feasible. Few differences were found between cases and controls, but some studies reported high symptom levels. Additional research is required utilizing larger sample sizes and more comprehensive assessment of ADHD.
Topics: Humans; Attention Deficit Disorder with Hyperactivity; Craniosynostoses; Child
PubMed: 38801083
DOI: 10.1080/87565641.2024.2357801 -
Plastic and Reconstructive Surgery Feb 2024Genetic research in nonsyndromic craniosynostosis remains limited compared with syndromic craniosynostosis. This systematic review aimed to comprehensively summarize the...
BACKGROUND
Genetic research in nonsyndromic craniosynostosis remains limited compared with syndromic craniosynostosis. This systematic review aimed to comprehensively summarize the genetic literature of nonsyndromic craniosynostosis and highlight key signaling pathways.
METHODS
The authors performed a systematic literature search of PubMed, Ovid, and Google Scholar databases from inception until December of 2021 using search terms related to nonsyndromic craniosynostosis and genetics. Two reviewers screened titles and abstract for relevance, and three reviewers independently extracted study characteristics and genetic data. Gene networks were constructed using Search Tool for Retrieval of Interacting Genes/Proteins (version 11) analysis.
RESULTS
Thirty-three articles published between 2001 and 2020 met inclusion criteria. Studies were further classified into candidate gene screening and variant identification studies ( n = 16), genetic expression studies ( n = 13), and common and rare variant association studies ( n = 4). Most studies were good quality. Using our curated list of 116 genes extracted from the studies, two main networks were constructed.
CONCLUSIONS
This systematic review concerns the genetics of nonsyndromic craniosynostosis, with network construction revealing TGF-β/BMP, Wnt, and NF-κB/RANKL as important signaling pathways. Future studies should focus on rare rather than common variants to examine the missing heritability in this defect and, going forward, adopt a standard definition.
Topics: Humans; Craniosynostoses; Genomics; Signal Transduction; Databases, Factual
PubMed: 37070824
DOI: 10.1097/PRS.0000000000010522 -
American Journal of Speech-language... Jan 2024Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at... (Review)
Review
INTRODUCTION
Craniofacial microsomia (CFM) is a complex congenital condition primarily affecting the ear, mandible, facial nerve and muscles, and tongue. Individuals with CFM are at increased risk of hearing loss, obstructive sleep apnea, and feeding/swallowing difficulties. The purpose of this scoping review was to summarize evidence pertaining to speech production in CFM.
METHOD
All articles reporting any characteristic of speech production in CFM were included and screened by two independent reviewers by title, abstract, and full text. Data charting captured details related to study population and design, CFM diagnostic criteria, speech outcome measurement, and key findings. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews checklist guided reporting of results. Our protocol was registered on the Open Science Framework (https://osf.io/npr94/) and published elsewhere.
RESULTS
Forty-five articles were included in the detailed review. Most articles originated from the United States, were published in the past decade, and utilized case report/series study design. A speech-language pathologist authored 29%. The prevalence of velopharyngeal insufficiency ranged from 19% to 55% among studies. Oral distortion of alveolar and palatal fricatives and affricates primarily characterized articulation errors. Studies identified increased disordered speech and lower intelligibility in adolescents with CFM compared to unaffected peers. Evidence pertaining to phonatory and respiratory speech findings is limited.
CONCLUSIONS
Evidence supports that individuals with CFM are at increased risk of both velopharyngeal and articulatory speech differences. Additional information is needed to develop speech screening guidelines for children with CFM. Heterogeneity in study design and outcome measurement precludes comparisons across studies.
SUPPLEMENTAL MATERIAL
https://doi.org/10.23641/asha.24424555.
Topics: Child; Adolescent; Humans; United States; Goldenhar Syndrome; Speech; Speech Disorders; Communication Disorders; Phenotype
PubMed: 37931079
DOI: 10.1044/2023_AJSLP-23-00152 -
World Neurosurgery Mar 2024The cautionary stance normally taken towards tranexamic acid (TXA) is rooted in concerns regarding its complication profile, namely its purported risk for venous... (Meta-Analysis)
Meta-Analysis Review
Tranexamic Acid Demonstrates Efficacy without Increased Risk for Venous Thromboembolic Events in Cranial Neurosurgery: Systematic Review of the Evidence and Current Applications in Nontraumatic Pathologies.
BACKGROUND
The cautionary stance normally taken towards tranexamic acid (TXA) is rooted in concerns regarding its complication profile, namely its purported risk for venous thromboembolic events (VTEs). In the present review, we intend to bring increased attention to TXA as a remarkably valuable tool that does not appear to increase the risk for VTE when used as indicated in select patients.
METHODS
We queried three databases to identify reporting use of TXA during nontraumatic cranial neurosurgery procedures (excluded traumatic brain injury). Data gathered included VTE complications, deep venous thrombosis, use of allogeneic blood transfusions, estimated blood loss, and operative duration.
RESULTS
Twenty-eight studies were deemed eligible for inclusion in the present meta-analysis, including nine studies on surgical resection of intracranial neoplasms, ten studies on aneurysmal subarachnoid hemorrhage, and nine studies on craniosynostosis. In brain tumor surgery, TXA appears to successfully reduce blood loss without predisposing patients to VTE or seizure (P < 0.01). However, it does not appear to reduce rates of vasospasm in aneurysmal subarachnoid hemorrhage (P = 0.27), and its administration is not associated with clinically meaningful differences in long term neurological outcomes. For pediatric patients undergoing craniosynostosis procedures, TXA similarly reduces blood loss (P < 0.01). Nonetheless, low dosing protocols should be used because they appear effective and the effects of high dose TXA in children have not been studied.
CONCLUSIONS
TXA is an effective hemostatic agent that can be administered to reduce blood loss and transfusion requirements for a wide range of neurosurgical applications in a broad spectrum of patient populations.
Topics: Humans; Child; Tranexamic Acid; Venous Thromboembolism; Antifibrinolytic Agents; Neurosurgery; Subarachnoid Hemorrhage; Blood Loss, Surgical; Venous Thrombosis; Craniosynostoses
PubMed: 38052364
DOI: 10.1016/j.wneu.2023.11.148 -
Orthodontics & Craniofacial Research Jun 2024The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The... (Review)
Review
The study aimed to summarize current knowledge regarding the use of orthopaedic functional appliances (OFA) in managing unilateral craniofacial microsomia (UCM). The eligibility criteria for the review were (1) assessing use of OFA as a stand-alone treatment and (2) using OFA in combination during or after MDO. The PICO (population, intervention, comparison and outcome) format formulated clinical questions with defined inclusion and exclusion criteria. No limitations concerning language and publication year were applied. Information sources: A literature search of Medline, Scopus, Embase, Cochrane Central Register of Controlled Trials, Web of Science databases without restrictions up to 30 September 2022. The risk of bias was assessed. According to Cochrane and PRISMA guidelines, two independent authors conducted data extraction. The level of evidence for included articles was evaluated based on the Oxford evidence-based medicine database. Due to the heterogeneity of studies and insufficient data for statistical pooling, meta-analysis was not feasible. Therefore, the results were synthesized narratively. A total of 437 articles were retrieved. Of these, nine met inclusion criteria: five assessing OFA and four assessing OFA during or after MDO. There is limited evidence to suggest that stand-alone and combination treatment with OFA is beneficial for treating mild-to-moderate UCM-related dentofacial deformities in short term. No studies assessed the burden of care. In the management of UCM, there is insufficient evidence supporting the efficacy of OFA as a stand-alone treatment or when combined with MDO. Additionally, there is a lack of evidence regarding treatment protocols and the effect on the condyles and the TMJ. The study was registered at Prospero database number CRD42020204969.
Topics: Humans; Goldenhar Syndrome; Orthodontic Appliances, Functional
PubMed: 37987216
DOI: 10.1111/ocr.12729 -
The Cleft Palate-craniofacial Journal :... Dec 2023Surgical correction of craniosynostosis can involve significant blood loss. Rates of allogenic blood transfusion have been reported to approach 100%. Multiple...
Surgical correction of craniosynostosis can involve significant blood loss. Rates of allogenic blood transfusion have been reported to approach 100%. Multiple interventions have been described to reduce blood loss and transfusion requirements. The aim of this study was to analyze various approaches over the last 4 decades to optimize blood loss and management during craniosynostosis surgery. PRISMA guidelines for systematic reviews were followed. PubMed and Cochrane database searches identified studies analyzing approaches to minimizing blood loss or transfusion rate in craniosynostosis surgery. Primary outcomes included rate or amount of allogenic or autologous blood transfusion, estimated blood loss (EBL), postoperative hemoglobin (Hg), or hematocrit (Hct) levels. Secondary outcomes were examined when reported. Fifty-two studies met inclusion criteria. There was marked heterogeneity regarding design, inclusion criteria, surgical intervention, and endpoints. The majority of the studies were nonrandomized and noncomparative. Four studies analyzed erythropoietin (EPO), 6 analyzed various cell-saver (CS) technologies, 18 analyzed antifibrinolytics (tranexamic acid [TXA], aminocaproic acid [ACA], and aprotinin [APO]), 8 analyzed various alternatives, and 16 analyzed multimodal pathways & protocols. Some studies analyzed multiple approaches. Although the majority of studies reviewed represent level III/IV evidence, several high-quality level I studies were identified and included. Level I evidence supported an improvement in blood outcomes by utilizing EPO, CS, and TXA, individually or in concert with one another. Thus, this review suggests that a multi-prong approach may be the most effective means to optimize blood loss and transfusion outcomes in craniosynostosis surgery.
Topics: Humans; Blood Loss, Surgical; Antifibrinolytic Agents; Tranexamic Acid; Blood Transfusion; Craniosynostoses
PubMed: 35903885
DOI: 10.1177/10556656221116007 -
The Journal of Craniofacial Surgery Sep 2023Primary craniosynostosis is a congenital craniofacial disorder in which cranial sutures prematurely close. Iatrogenic secondary stenosis is abnormal cranial suture...
BACKGROUND
Primary craniosynostosis is a congenital craniofacial disorder in which cranial sutures prematurely close. Iatrogenic secondary stenosis is abnormal cranial suture closure caused by surgical manipulation of the suture. In contrast, idiopathic secondary stenosis develops in a suture that did not undergo surgical manipulation. The objective of this systematic review was to consolidate and characterize the incidence, classification, and management of idiopathic secondary stenosis in the literature.
METHODS
Literature from PubMed, Web Of Science, and EMBASE from 1970 to March 2022 was reviewed. The following information was extracted for individual patients: incidence of idiopathic secondary stenosis, index primary craniosynostosis, primary surgical correction, presenting signs of secondary stenosis, management, and further complications.
RESULTS
Seventeen articles detailing 1181 patients were included. Ninety-one developed idiopathic secondary stenosis (7.7%). Only 3 of these patients were syndromic. The most common index craniosynostosis was sagittal synostosis (83.5%). The most common suture undergoing idiopathic secondary stenosis was the coronal suture (91.2%). Patients presented at a median age of 24 months. The most common presenting sign was a radiologic finding (85.7%), although some patients presented with headache or head deformity. Only 2 patients, both syndromic, had complications following surgical correction of secondary stenosis.
CONCLUSIONS
Idiopathic secondary stenosis is a rare, long-term complication following index surgical repair of craniosynostosis. It can occur following any surgical technique. It most commonly affects the coronal suture but can affect any of the sutures, including pansynostosis. Surgical correction is curative in nonsyndromic patients.
Topics: Humans; Infant; Child, Preschool; Constriction, Pathologic; Neoplasm Recurrence, Local; Craniosynostoses; Cranial Sutures; Neurosurgical Procedures
PubMed: 37316986
DOI: 10.1097/SCS.0000000000009495 -
Orthodontics & Craniofacial Research Feb 2024Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts... (Review)
Review
Hypoplastic asymmetry due to hemifacial microsomia (HFM) often represents the most difficult reconstruction in the craniomaxillofacial clinic. Although autogenous grafts are generally used for temporomandibular joint reconstruction (TMJR), the use of TMJR prostheses is not well established. The aim of this review was to identify, collect and analyse the use of extended TMJR (eTMJR) prostheses in patients with HFM, describing clinical features, surgical procedures and postoperative complications. Online searches of all major databases were performed according to PRISMA guidelines. All studies with HFM patients treated with the eTMJR prostheses were included. Descriptive statistics were used for data analysis. A total of 19 studies, including 08 case studies, 06 case series and 05 retrospective cohort studies, met the inclusion criteria, where a total of 42 HFM patients were reported from 18 countries, mostly from the United States (05; 26%). Fifteen of the 42 cases (~36%) were male. The mean ± SD (range) age of patients in all studies was 19.79 ± 5.81 (9-36) years. The mean ± SD (range) of patient follow-up was 41.30 ± 35.50 (6-136) months. A total of 5 (10.6%) patients were implanted with bilateral eTMJR prostheses. The Pruzansky classification was used in 18 (~89.5%) studies, OMENS classification in 01 (~5%) study, whereas no classification was reported in one study. Only 01 (7.1%) study had documented the eTMJR classification for the prosthesis used. In growing patients with or without a history of failed autogenous tissues, TMJR prostheses may provide a viable alternative. Randomized studies with large cohorts are warranted to validate these preliminary results.
Topics: Adolescent; Adult; Female; Humans; Male; Young Adult; Facial Asymmetry; Goldenhar Syndrome; Joint Prosthesis; Retrospective Studies; Temporomandibular Joint; Temporomandibular Joint Disorders; Child
PubMed: 37533308
DOI: 10.1111/ocr.12695 -
The Journal of Craniofacial SurgeryThe purpose of this study is to describe the treatment strategies and outcomes of nonsyndromic single-suture sagittal craniosynostosis based on the patient's age at...
The purpose of this study is to describe the treatment strategies and outcomes of nonsyndromic single-suture sagittal craniosynostosis based on the patient's age at intervention. Studies from MEDLINE, Scopus, and Cochrane Central Register of Controlled Trials were systematically searched for patients with nonsyndromic single-suture sagittal craniosynostosis. Inclusion criteria encompassed studies with follow-up of at least 12 months, minimum of 25 patients per cohort, and first-time surgical intervention. The risk of bias in nonrandomized studies of intervention tool [Risk Of Bias In Non-randomized Studies-of Interventions (ROBINS-I)] was applied. A total of 49 manuscripts with 3316 patients met criteria. Articles were categorized based on age at intervention; 0 to 6, older than 6 to 12, and older than 12 months. Fifteen of the manuscripts described interventions in more than 1 age group. From the 49 articles, 39 (n=2141) included patients 0 to 6 months old, 15 (n=669) discussed patients older than 6 to 12 months old, and 9 (n=506) evaluated patients older than 12 months old. Follow-up ranged from 12 to 144 months. Over 8 types of open surgical techniques were identified and 5 different minimally invasive procedures were described. Minimally invasive procedures were exclusively seen in the youngest patient cohort, while open cranial vault reconstructions were often seen in the 2 older cohorts. Endoscopic surgery and open conservative procedures are indicated for younger patients, while complex open cranial vault reconstructions are common in older patients. However, there is no consensus on one approach over the other. Even with the analysis of this review, we cannot factor a strong conclusion on a specific technique.
Topics: Humans; Aged; Infant, Newborn; Infant; Craniosynostoses; Skull; Neurosurgical Procedures; Endoscopy; Treatment Outcome
PubMed: 37772869
DOI: 10.1097/SCS.0000000000009752 -
Journal of Human Genetics Jul 2024Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex...
Spondylocostal dysostosis (SCDO) encompasses a group of skeletal disorders characterized by multiple segmentation defects in the vertebrae and ribs. SCDO has a complex genetic etiology. This study aimed to analyze and identify pathogenic variants in a fetus with SCDO. Copy number variant sequencing and whole exome sequencing were performed on a Chinese fetus with SCDO, followed by bioinformatics analyses, in vitro functional assays and a systematic review on the reported SCDO cases with LFNG pathogenic variants. Ultrasound examinations in utero exhibited that the fetus had vertebral malformation, scoliosis and tethered cord, but rib malformation was not evident. We found a novel homozygous variant (c.1078 C > T, p.R360C) within the last exon of LFNG. The variant was predicted to cause loss of function of LFNG by in silico prediction tools, which was confirmed by an in vitro assay of LFNG enzyme activity. The systematic review listed a total of 20 variants of LFNG in SCDO. The mutational spectrum spans across all exons of LFNG except the last one. This study reported the first Chinese case of LFNG-related SCDO, revealing the prenatal phenotypes and expanding the mutational spectrum of the disorder.
Topics: Humans; Female; Exome Sequencing; Fetus; Pregnancy; Abnormalities, Multiple; Mutation; Meningomyelocele; DNA Copy Number Variations; Asian People; East Asian People; Hernia, Diaphragmatic
PubMed: 38565611
DOI: 10.1038/s10038-024-01248-3