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Child's Nervous System : ChNS :... Apr 2020Patients with sagittal craniosynostosis are at increased risk of developing raised intracranial pressure (ICP) and neurocognitive deficiencies such as reduced attention,... (Review)
Review
BACKGROUND
Patients with sagittal craniosynostosis are at increased risk of developing raised intracranial pressure (ICP) and neurocognitive deficiencies such as reduced attention, planning, speech, behavioural and learning disabilities.
AIM
To determine if the existing literature supports a correlation between elevated ICP and negative cognitive outcome in patients with sagittal craniosynostosis. Secondly, to investigate if the risk of developing neurocognitive deficiencies can be explained by changes in brain morphology in this patient category.
METHODS
Systematic literature review in PubMed.
RESULTS
A total of 190 publications were reviewed to determine a possible correlation between raised ICP and cognitive outcome, of which four were included in the study. No significant association was found. Forty-four publications on brain morphology in sagittal craniosynostosis were identified, of which 11 were included in the review. Clear evidence of morphologic changes in multiple areas of the brains of sagittal craniosynostosis patients was found in the literature.
CONCLUSION
The existing literature does not support an association between increased ICP and negative global cognitive outcome measures in patients with sagittal craniosynostosis. Brain morphology is altered in areas related to neurocognition and language in the same patient group. These changes might play a role in the development of neurocognitive deficiencies, though no definitive link is yet established, and further investigation is warranted.
Topics: Brain; Child; Cognition; Craniosynostoses; Humans; Infant; Intracranial Hypertension; Intracranial Pressure
PubMed: 32016575
DOI: 10.1007/s00381-020-04502-z -
Annals of Plastic Surgery Oct 2023Although craniosynostoses involving the major sutures have been well described, the frequency of isolated minor suture craniosynostoses is much lower. Squamosal...
BACKGROUND
Although craniosynostoses involving the major sutures have been well described, the frequency of isolated minor suture craniosynostoses is much lower. Squamosal craniosynostosis (SQS) is a rare form of cranial synostosis, and the paucity of literature has made the creation of a standardized treatment plan difficult. We present a systematic review of the literature on isolated SQS to identify disease characteristics that lead to a need for operative intervention and to delineate patterns in surgical management.
METHODS
A systematic literature review was performed using the electronic databases of PubMed, Scopus, and MEDLINE and the key words "squamosal AND craniosynostosis," "squamous AND craniosynostosis," "squamosal craniosynostosis, "squamosal suture craniosynostosis," and "isolated squamosal craniosynostosis." Only human studies that described presentation and management of SQS were included. A blinded, 2-reviewer analysis of the articles was performed. Data collected included patient and disease characteristics, imaging workup, and treatment specifics, which were analyzed by descriptive statistics.
RESULTS
A total of 19 studies examining 119 patients with SQS were reviewed, with 97 (82%) multisutural cases and 22 isolated cases (18%). Of the isolated cases, 6 (27%) required surgical craniosynostosis repair, of which 1 (17%) had unilateral sutural involvement and 5 (83%) had bilateral involvement. Of the patients with isolated SQS, 7 (32%) had a congenital syndrome and comprised 33% of patients who required surgical intervention. The nonsyndromic patients with isolated SQS who required surgery presented with a wide array of phenotypic findings; 3 patients underwent some form of cranial vault remodeling, whereas 1 patient underwent ventriculoperitoneal shunt only. Of the 4 nonsyndromic patients with isolated SQS who underwent surgical repair, half required operative intervention because of elevated intracranial pressure and the other half because of dysmorphic head shape.
CONCLUSION
The findings of this updated systematic review suggest a trend toward surgical management in bilateral SQS versus unilateral SQS, and that patients with isolated SQS, previously considered to be a nonsurgical finding, should be carefully monitored, as there remains risk of increased intracranial pressure. Pooled systematic review data suggest isolated SQS has a 27% operative intervention rate, with the presence of coexisting syndromic diagnoses increasing that risk.
Topics: Humans; Infant; Tomography, X-Ray Computed; Craniosynostoses; Skull; Cranial Sutures; Plastic Surgery Procedures; Retrospective Studies
PubMed: 37553899
DOI: 10.1097/SAP.0000000000003642 -
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 -
Journal of Oral and Maxillofacial... Apr 2022The purpose of this systematic review and meta-analysis was to estimate and compare rates of unplanned reoperation and complications after undergoing either... (Meta-Analysis)
Meta-Analysis
PURPOSE
The purpose of this systematic review and meta-analysis was to estimate and compare rates of unplanned reoperation and complications after undergoing either fronto-orbital advancement (anterior cranial vault expansion) or posterior cranial vault expansion as an early surgery in the management of syndromic craniosynostosis.
MATERIALS AND METHODS
A literature search was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Relevant articles were identified in 2 electronic databases (PubMed and EMBASE) from the time of electronic publication to November 2020. Quality assessment and risk of bias were appraised using the Grading of Recommendations Assessment, Development and Evaluation system. A meta-analysis was performed comparing rates of reoperation and complications between participants who underwent anterior or posterior cranial vault expansion as an early surgery.
RESULTS
Of 1,373 screened records, 7 met inclusion criteria. Six were included in the meta-analysis. The studies that met inclusion criteria reported on 103 patients treated with anterior techniques and 72 patients treated with a posterior approach. Anterior cranial vault expansion was associated with significantly higher rates of reoperation (Peto odds ratio = 2.83; 95% confidence interval = 1.19, 6.74, P = .02) and complications (Peto odds ratio = 2.61; 95% confidence interval = 1.12, 6.12, P = .03) than posterior cranial vault expansion.
CONCLUSIONS
Both anterior and posterior approaches are suitable options in the treatment of syndromic craniosynostosis depending on patient-specific factors. Anterior cranial vault expansion was associated with higher rates of unplanned reoperation and complications than posterior techniques in this analysis. Because of the paucity of literature which met inclusion criteria, this study was not able to assess critical outcome variables such as distance distracted/volumetric expansion, estimated blood loss, and cost. Larger studies evaluating both techniques under multiple institutions with long-term follow-up are indicated.
Topics: Craniosynostoses; Humans; Infant; Morbidity; Osteogenesis, Distraction; Reoperation; Skull
PubMed: 34863645
DOI: 10.1016/j.joms.2021.10.022 -
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 -
Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.Gene Therapy Nov 2021Apert syndrome is a genetic disorder characterised by craniosynostosis and structural discrepancy of the craniofacial region as well as the hands and feet. This... (Review)
Review
Apert syndrome is a genetic disorder characterised by craniosynostosis and structural discrepancy of the craniofacial region as well as the hands and feet. This condition is closely linked with fibroblast growth factor receptor-2 (FGFR2) gene mutations. Gene therapies are progressively being tested in advanced clinical trials, leading to a rise of its potential clinical indications. In recent years, research has made great progress in the gene therapy of craniosynostosis syndromes and several studies have investigated its influences in preventing/diminishing the complications of Apert syndrome. This article reviewed and exhibited different techniques of gene therapy and their influences in Apert syndrome progression. A systematic search was executed using electronic bibliographic databases including PubMed, EMBASE, ScienceDirect, SciFinder and Web of Science for all studies of gene therapy for Apert syndrome. The primary outcomes measurements vary from protein to gene expressions. According to the findings of included studies, we conclude that the gene therapy using FGF in Apert syndrome was critical in the regulation of suture fusion and patency, occurred via alterations in cellular proliferation. The superior outcome could be brought by biological therapies targeting the FGF/FGFR signalling. More studies in molecular genetics in Apert syndrome are recommended. This study reviews the current literature and provides insights to future possibilities of genetic therapy as intervention in Apert syndrome.
Topics: Acrocephalosyndactylia; Cell Proliferation; Genetic Therapy; Humans; Mutation; Signal Transduction
PubMed: 33619359
DOI: 10.1038/s41434-021-00238-w -
International Journal of Oral and... Sep 2020Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in...
Ocular anomalies may occur in craniofacial microsomia (CFM). The aim of this systematic review was to review the literature on ocular anomalies and their incidence, in order to estimate the need for ophthalmological screening in CFM patients. Online databases were searched, and data on the number of patients, type and incidence of ocular anomalies, and visual acuity were extracted. Four subgroups of ocular and adnexal anomalies were identified, to provide an overview of the different anomalies. Twenty-five papers analysing 1419 patients in total were included. Ocular anomalies were documented in 6.7-100% of patients. The most reported type I ocular anomalies were eyelid coloboma, lipodermoids, and orbital dystopia. The most reported type II ocular anomalies were epibulbar dermoid, microphthalmia, and anophthalmia. Ptosis and strabismus were the most reported type III anomalies, and irregular astigmatism was the most reported type IV ocular anomaly. Visual impairment in general was reported in 8-71.4% of patients, with severe visual impairment in 11.1-71.4% and amblyopia in 16.3%. This study provides a detailed overview of ocular anomalies in CFM and their prevalence. Furthermore, we propose a new classification to organize ocular anomalies into four clinically relevant subtypes. Finally, the high prevalence of ocular anomalies and visual impairment in this study suggests that CFM patients should undergo ophthalmological screening at least once during the sensitive period.
Topics: Coloboma; Face; Goldenhar Syndrome; Humans; Prevalence; Strabismus
PubMed: 32217034
DOI: 10.1016/j.ijom.2020.03.003 -
Plastic and Reconstructive Surgery Jun 2023The aim of this study was to compare the indications, techniques, and outcomes of vascularized and nonvascularized toe-to-hand transfer surgery in patients with...
BACKGROUND
The aim of this study was to compare the indications, techniques, and outcomes of vascularized and nonvascularized toe-to-hand transfer surgery in patients with congenital hand differences.
METHODS
A systematic review was conducted according to Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. Studies containing data on indications, surgical technique, and outcomes for patients with congenital absence or deficiency of digits or thumb treated with toe-to-hand transfer were included. Failure was defined as resorption of the transfer or necrosis necessitating removal.
RESULTS
Forty studies published between 1978 and 2020 were included. A total of 319 patients (59.7%) had vascularized transfers, 214 (40.1%) had nonvascularized transfers, and one had both (0.2%). Symbrachydactyly was the most common indication in both groups (46.3% vascularized and 45.3% nonvascularized). The most commonly transplanted toe was the second toe in the vascularized group (72.6 %) and fourth toe in the nonvascularized group (32.2%). Vascularized toe transfers were most commonly used to reconstruct the thumb (53.3%), as were nonvascularized transfers (30%). Vascular complications occurred after 6.8% of vascularized transfers, although 94.7% were ultimately successful after reoperation. Resorption accounted for most complications after nonvascularized transfers. More secondary procedures were required after nonvascularized transfers. In the vascularized group, there was a higher success rate of 98.6% (95% CI, 97.4% to 99.7%), compared with 86.8% (95% CI, 83.6% to 90%) in the nonvascularized group ( P < 0.001).
CONCLUSIONS THE AUTHORS
study found a higher success rate in vascularized transfers. The ideal technique must be assessed on an individual patient basis, accounting for baseline hand structure, in addition to the ultimate aesthetic and functional goals.
Topics: Humans; Hand; Upper Extremity; Thumb; Syndactyly; Toes; Amputation, Traumatic
PubMed: 36728793
DOI: 10.1097/PRS.0000000000010116 -
The British Journal of Oral &... Jan 2024This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with... (Review)
Review
This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients. Velopharyngeal insufficiency results in hypernasality can lead to speech impairment. The reported prevalence of both velopharyngeal insufficiency and hypernasality ranged between 12.5% and 55%, while the reported prevalence of speech impairment in patients with CFM varied between 35.4% and 74%. Language problems were reported in 37% to 50% of patients. Speech therapy was documented in 45.5% to 59.6% of patients, while surgical treatment for velopharyngeal insufficiency consisted of pharyngeal flap surgery or pharyngoplasty and was reported in 31.6% to 100%. Cleft lip and/or palate was reported in 10% to 100% of patients with CFM; these patients were found to have worse speech results than those without cleft lip and/or palate. No consensus was found on patient characteristics associated with an increased risk of velopharyngeal insufficiency and speech/language impairment. Although velopharyngeal insufficiency is a less commonly reported characteristic of CFM than other malformations, it can cause speech impairment, which may contribute to delayed language development in patients with CFM. Therefore, timely recognition and treatment of speech impairment is essential.
Topics: Humans; Cleft Lip; Cleft Palate; Goldenhar Syndrome; Language Development Disorders; Retrospective Studies; Speech; Speech Disorders; Treatment Outcome; Velopharyngeal Insufficiency
PubMed: 38057178
DOI: 10.1016/j.bjoms.2023.09.008 -
Operative Neurosurgery (Hagerstown, Md.) Aug 2023Few studies have described a transmandibular approach for decompression in a patient with Klippel-Feil syndrome (KFS) for cervical myelopathy.
BACKGROUND
Few studies have described a transmandibular approach for decompression in a patient with Klippel-Feil syndrome (KFS) for cervical myelopathy.
OBJECTIVE
To describe the transmandibular approach in a KFS patient with cervical myelopathy and to perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses.
METHODS
A systematic review was performed using Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Embase and PubMed databases were searched from January 2002 to November 2022 for articles examining patients with KFS undergoing cervical decompression and/or fusion for cervical myelopathy and/or radiculopathy were included. Articles describing compression due to nonbony causes, lumbar/sacral surgery, nonhuman studies, or symptoms only from basilar invagination/impression were excluded. Data collected were sex, median age, Samartzis type, surgical approach, and postoperative complications.
RESULTS
A total of 27 studies were included, with 80 total patients. Thirty-three patients were female, and the median age ranged from 9 to 75 years. Forty-nine patients, 16 patients, and 13 patients were classified as Samartzis Types I, II, and III, respectively. Forty-five patients, 21 patients, and 6 patients underwent an anterior, posterior, and combined approach, respectively. Five postoperative complications were reported. One article reported a transmandibular approach for access to the cervical spine.
CONCLUSION
Patients with KFS are at risk of developing cervical myelopathy. Although KFS manifests heterogeneously and may be treated through a variety of approaches, some manifestations of KFS may preclude traditional approaches for decompression. Surgical exposure through the anterior mandible may prove an option for cervical decompression in patients with KFS.
Topics: Humans; Female; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Male; Klippel-Feil Syndrome; Spinal Cord Compression; Cervical Vertebrae; Spinal Cord Diseases; Postoperative Complications
PubMed: 37219571
DOI: 10.1227/ons.0000000000000754