Comparison of two surgical protocols for the treatment of unilateral cleft lip and palate: a multidisciplinary systematic review and meta-analysis.

There is still no unanimous agreement on the optimal surgical protocol(s) for the treatment of unilateral cleft lip and palate (UCLP), and a huge variety of protocols are employed by cleft centres across the world. The aim of this systematic review and meta-analysis was to compare reported patient outcomes of the Oslo protocol (and modifications) (OP) and delayed hard palate closure protocols (DHPCP) from a multidisciplinary perspective. A systematic search of multiple databases was conducted until September 2023. Studies reporting any patient outcomes of these protocols were included. Random-effects meta-analyses were performed for evidence synthesis, including comparisons of results between the types of protocol. The quality of evidence was evaluated using the ROBINS-I tool. In total, 62 articles (42 studies) reporting patients with UCLP were reviewed, involving 1281 patients following the OP and 655 following DHPCP. Equally poor long-term sagittal maxillofacial growth was found, and similar results for velopharyngeal insufficiency and nasolabial appearance. In contrast, OP was associated with a lower rate of oronasal fistulas. Disregarding the scarcity of comparable evidence for some domains, the results of this review, overall, favour OP over DHPCP. However, caution should be taken when interpreting the results on velopharyngeal insufficiency and oronasal fistulas, since the possibility of confounding and other biases remains.

Brain volume in infants with metopic synostosis: Less white matter volume with an accelerated growth pattern in early life.

Metopic synostosis patients are at risk for neurodevelopmental disorders despite a negligible risk of intracranial hypertension. To gain insight into the underlying pathophysiology of metopic synostosis and associated neurodevelopmental disorders, we aimed to investigate brain volumes of non-syndromic metopic synostosis patients using preoperative MRI brain scans. MRI brain scans were processed with HyperDenseNet to calculate total intracranial volume (TIV), total brain volume (TBV), total grey matter volume (TGMV), total white matter volume (TWMV) and total cerebrospinal fluid volume (TCBFV). We compared global brain volumes of patients with controls corrected for age and sex using linear regression. Lobe-specific grey matter volumes were assessed in secondary analyses. We included 45 metopic synostosis patients and 14 controls (median age at MRI 0.56 years [IQR 0.36] and 1.1 years [IQR 0.47], respectively). We found no significant differences in TIV, TBV, TGMV or TCBFV in patients compared to controls. TWMV was significantly smaller in patients (-62,233 mm3 [95% CI = -96,968; -27,498], Holm-corrected p = 0.004), and raw data show an accelerated growth pattern of white matter in metopic synostosis patients. Grey matter volume analyses per lobe indicated increased cingulate (1378 mm3 [95% CI = 402; 2355]) and temporal grey matter (4747 [95% CI = 178; 9317]) volumes in patients compared to controls. To conclude, we found smaller TWMV with an accelerated white matter growth pattern in metopic synostosis patients, similar to white matter growth patterns seen in autism. TIV, TBV, TGMV and TCBFV were comparable in patients and controls. Secondary analyses suggest larger cingulate and temporal lobe volumes. These findings suggest a generalized intrinsic brain anomaly in the pathophysiology of neurodevelopmental disorders associated with metopic synostosis.

Quality of life in children suffering from headaches: a systematic literature review.

BACKGROUND: Headaches are the most common complaints among pediatric populations. Determining the cause and appropriate treatment for headaches may be challenging and costly, and the impact of headaches on the lives of patients and their families is not well understood. OBJECTIVE: A systematic literature review was conducted to examine what PROMs are currently used, and to identify quality of life (QoL) concepts important to children suffering from headaches and any known determinants of QoL. METHODS: Embase, Medline, Web of Science, CINAHL, EBSCOhost, PsychINFO, Cochrane CENTRAL and Google Scholar were searched from their inception through to June 2021. Studies investigating QoL, using a validated outcome measure in pediatric patients with headaches, were included. Relevant studies were identified through title and abstract screening and full text review by two independent reviewers. A citation review of included studies was performed. QoL concepts were extracted from the outcome measures that were used in each study to develop a preliminary conceptual model of QoL in children suffering from headaches. Determinants of QoL were also identified and categorized. RESULTS: A total of 5421 studies were identified in the search. Title and abstract screening resulted in the exclusion of 5006 studies. Among the 415 studies included for full text review, 56 were eligible for final analysis. A citation review resulted in the addition of five studies. Most studies were conducted in high-income countries and included a patient-sample accordingly (n = 45 studies). Sixteen different PROMs were identified in the included studies, of which the PedsQL was used the most often (n = 38 studies). The most common health concepts reported were physical functioning (n = 113 items), social and psychological wellbeing (N = 117, n = 91 resp.). Twenty-five unique determinants of QoL were extracted from the included studies. CONCLUSION: There is a need for a condition-specific PROM to facilitate the measurement of QoL outcomes in the pediatric headache population. A conceptual model was developed based on the findings from the health concepts. Findings from this review could be used for future qualitative interviews with pediatric patients with headaches to elicit and refine important QoL concepts.

Sphenoid dysplasia in patients with neurofibromatosis type 1: Clinical features and imaging findings including cerebrospinal fluid alterations.

INTRODUCTION: Neurofibromatosis Type 1 (NF-1) is a genetic disorder that occurs in 1:2500-3000 live births and may involve multiple organs. An uncommon but well-known phenomena is sphenoid dysplasia, which appears in 3-11% of the patients, and may result in significant lowering of the orbit. Understanding the cause and development of this process might predict its course and its treatment. METHODS: The records of 29 patients with PNF in the head and neck region were searched for location of the PNF and type of surgery. Photographs were studied for facial disturbances, including vertical dystopia, hypertelorism, ptosis, exophthalmos and enophthalmos. MR and CT scans were studied for the presence of PNF, aspect of the sphenoid bone, alteration in the CSF circulation, and other tumour involvement. RESULTS: Fourteen of 29 patients with PNF in the head and neck presented with sphenoid dysplasia. All 14 patients had their PNF located in the periorbital region. Increased locoregional CSF collections were seen in almost all of these patients. Besides glioma of the optical nerve or hamartomas in the cerebrum and cerebellum, there were no other tumours found. Surgical treatment varies from simple excision to excessive debulking of the PNF, reconstruction of the orbit and even enucleation. CONCLUSION: Although sphenoid dysplasia is uncommon in NF-1 patients, early recognition is important to prevent facial disfigurement and vision loss. Clinicians should be aware that abnormalities in the periorbital region and especially vertical dystopia might be the first sign of sphenoid dysplasia. Performing a CT or black-bone MR scan would be the next step to confirm or exclude sphenoid dysplasia and abnormal CSF dynamics.

The impact of obstructive sleep apnea on growth in patients with syndromic and complex craniosynostosis: a retrospective study.

Given the high prevalence of OSA in children with syndromic and complex craniosynostosis (SCC) and the consequences of untreated OSA, it is important to assess their nutritional status and growth. Yet, literature regarding growth in children with SCC remain scarce. Therefore, this study aimed to (1) illustrate the growth pattern in SCC, (2) determine the impact of OSA on this growth pattern, and (3) evaluate the effect of surgical treatment of OSA on growth over time. A retrospective study was performed in children with SCC, who were treated at the Dutch Craniofacial Center (Rotterdam, Netherlands). Growth variables (height, weight, weight-for-age standard-deviation-score (SDS), weight-for-height SDS, and height-for-age SDS) and degree of OSA (obstructive apnea-hypopnea index) were assessed. Of the 153 children with SCC, 38 (25%) were acutely malnourished at some point during follow-up, of whom 21 had disease-related acute malnutrition. Children with moderate-severe OSA had significant lower weight-for-height SDS compared to children without OSA (p = 0.0063). Growth parameters (weight-for-age SDS, weight-for-height SDS, height-for-age SDS) in children with SCC without OSA were not impaired as they did not differ from the normal healthy population, with exception of the patients with Saethre-Chotzen syndrome (SCS) who had a significantly lower SDS for height-for-age.   Conclusion: Children with SCC have a substantial chance of developing acute malnutrition at some point during growth. Additionally, in children with moderate-severe OSA, a significant lower SDS for weight-for-height is present, indicating the importance of assessing the weight and growth pattern in children who are clinically suspected for OSA. What is Known: • Obstructive sleep apnea is seen in up to two-thirds of the children with syndromic and complex craniosynostosis. • Presence of obstructive sleep apnea is associated with intracranial hypertension and an increased risk of metabolic, cardiovascular, and neurocognitive consequences later in life. Untreated obstructive sleep apnea may lead to impaired growth and weight gain, which can result in growth failure. What is New: • Craniosynostosis patients with moderate-severe obstructive sleep apnea had significant lower weight-for-height standard deviation scores (SDS), compared to children without obstructive sleep apnea.  • Children with syndromic and complex craniosynostosis without OSA did not significantly differ from the normal healthy population in regard to weight-for-age SDS, weight-for-height SDS, and height-for-age SDS.

A diffusion tensor imaging analysis of white matter microstructures in non-operated craniosynostosis patients.

PURPOSE: In 7 to 15-year-old operated syndromic craniosynostosis patients, we have shown the presence of microstructural anomalies in brain white matter by using DTI. To learn more about the cause of these anomalies, the aim of the study is to determine diffusivity values in white matter tracts in non-operated syndromic craniosynostosis patients aged 0-2 years compared to healthy controls. METHODS: DTI datasets of 51 non-operated patients with syndromic craniosynostosis with a median [IQR] age of 0.40 [0.25] years were compared with 17 control subjects with a median of 1.20 [0.85] years. Major white matter tract pathways were reconstructed with ExploreDTI from MRI brain datasets acquired on a 1.5 T MRI system. Eigenvalues of these tract data were examined, with subsequent assessment of the affected tracts. Having syndromic craniosynostosis (versus control), gender, age, frontal occipital horn ratio (FOHR), and tract volume were treated as independent variables. RESULTS: ʎ2 and ʎ3 of the tracts genu of the corpus callosum and the hippocampal segment of the cingulum bundle show a ƞ2 > 0.14 in the comparison of patients vs controls, which indicates a large effect on radial diffusivity. Subsequent linear regressions on radial diffusivity of these tracts show that age and FOHR are significantly associated interacting factors on radial diffusivity (p < 0.025). CONCLUSION: Syndromic craniosynostosis shows not to be a significant factor influencing the major white matter tracts. Enlargement of the ventricles show to be a significant factor on radial diffusivity in the tracts corpus callosum genu and the hippocampal segment of the cingulate bundle. CLINICAL TRIAL REGISTRATION: MEC-2014-461.

Acceptability and feasibility of an online psychosocial intervention for Dutch adolescents with a visible difference: A mixed-methods study.

Adolescents with a visible difference can experience difficult social situations, (e.g., people staring or making unwanted comments) and are at risk for mental health problems. Unfortunately, interventions for adolescents with a visible difference experiencing appearance-related distress are scarce and lack an evidence-base. This study tests the acceptability and feasibility of YP Face IT, an innovative online psychological intervention using social skills training and cognitive behavioural therapy, to Dutch adolescents. Adolescents aged 12-17 with a visible difference and access to an internet-enabled computer or tablet participated. They completed YP Face IT (eight sessions) and questionnaires were administered pre- and post-intervention. After completing YP Face IT, participants were interviewed to assess the acceptability and feasibility of YP Face IT and study procedures. Overall, 15 adolescents consented to participation, one person dropped out after one session. Most adolescents appreciated the intervention and all would recommend it to other adolescents experiencing appearance-related distress. Everyone reported learning experiences after following the sessions. Some struggled with motivation, but reminders by the website and research team were helpful. The Dutch YP Face IT intervention may be acceptable and the current study design is feasible to use. An RCT should be conducted to assess the effectiveness of the intervention.

Craniofacial morphology and growth in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis.

OBJECTIVES: To determine whether the midface of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is hypoplastic compared to skeletal facial proportions of a Dutch control group. MATERIAL AND METHODS: We included seventy-four patients (43 patients with Muenke syndrome, 22 patients with Saethre-Chotzen syndrome, and 9 patients with TCF12-related craniosynostosis) who were referred between 1990 and 2020 (age range 4.84 to 16.83 years) and were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands. The control group consisted of 208 healthy children. RESULTS: Cephalometric values comprising the midface were decreased in Muenke syndrome (ANB: ß = -1.87, p = 0.001; and PC1: p < 0,001), Saethre-Chotzen syndrome (ANB: ß = -1.76, p = 0.001; and PC1: p < 0.001), and TCF12-related craniosynostosis (ANB: ß = -1.70, p = 0.015; and PC1: p < 0.033). CONCLUSIONS: In this study, we showed that the midface is hypoplastic in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis compared to the Dutch control group. Furthermore, the rotation of the maxilla and the typical craniofacial buildup is significantly different in these three craniosynostosis syndromes compared to the controls. CLINICAL RELEVANCE: The maxillary growth in patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis is impaired, leading to a deviant dental development. Therefore, timely orthodontic follow-up is recommended. In order to increase expertise and support treatment planning by medical and dental specialists for these patients, and also because of the specific differences between the syndromes, we recommend the management of patients with Muenke syndrome, Saethre-Chotzen syndrome, or TCF12-related craniosynostosis in specialized multidisciplinary teams.

Feeding and swallowing outcomes following mandibular distraction osteogenesis: an analysis of 22 non-isolated paediatric cases.

Patients with mandibular hypoplasia and upper airway obstruction are at an increased risk of feeding and swallowing difficulties. Little has been described regarding these outcomes following mandibular distraction. The aim of this study was to evaluate the effect of mandibular distraction on feeding and swallowing function. A retrospective study was performed on 22 patients with non-isolated mandibular hypoplasia and severe upper airway obstruction treated with mandibular distraction. Median age at first mandibular distraction was 3.1 years (interquartile range 2.3-6.0 years) and the median follow-up time was 3.5 years (interquartile range 2.0-9.4 years). Prior to mandibular distraction, feeding difficulties were present in 18 patients. Swallowing difficulties were present in 20 patients, all of whom had problems in the oral phase of swallowing, while 11 patients had additional problems in the pharyngeal phase. Following mandibular distraction, at the time of follow-up, feeding difficulties persisted in 13 patients. Swallowing difficulties in the oral phase remained present in all 20 patients, while pharyngeal phase problems persisted in seven patients. In conclusion, feeding and swallowing difficulties are highly prevalent in non-isolated patients and often persist following mandibular distraction. Moreover, these can be the reason that decannulation cannot be accomplished. Hence, awareness and close follow-up by a specialized speech therapist is of paramount importance.

Cervical Spinal Cord Compression and Sleep-Disordered Breathing in Syndromic Craniosynostosis.

BACKGROUND AND PURPOSE: Cerebellar tonsillar herniation arises frequently in syndromic craniosynostosis and causes central and obstructive apneas in other diseases through spinal cord compression. The purposes of this study were the following: 1) to determine the prevalence of cervical spinal cord compression in syndromic craniosynostosis, and 2) to evaluate its connection with sleep-disordered breathing. MATERIALS AND METHODS: This was a cross-sectional study including patients with syndromic craniosynostosis who underwent MR imaging and polysomnography. Measures encompassed the compression ratio at the level of the odontoid process and foramen magnum and the cervicomedullary angle. MR imaging studies of controls were included. Linear mixed models were developed to compare patients with syndromic craniosynostosis with controls and to evaluate the association between obstructive and central sleep apneas and MR imaging parameters. RESULTS: One hundred twenty-two MR imaging scans and polysomnographies in 89 patients were paired; 131 MR imaging scans in controls were included. The mean age at polysomnography was 5.7 years (range, 0.02-18.9 years). The compression ratio at the level of the odontoid process was comparable with that in controls; the compression ratio at the level of the foramen magnum was significantly higher in patients with Crouzon syndrome (+27.1, P < .001). The cervicomedullary angle was significantly smaller in Apert, Crouzon, and Saethre-Chotzen syndromes (-4.4°, P = .01; -10.2°, P < .001; -5.2°, P = .049). The compression ratios at the level of the odontoid process and the foramen magnum, the cervicomedullary angle, and age were not associated with obstructive apneas (P > .05). Only age was associated with central apneas (P = .02). CONCLUSIONS: The prevalence of cervical spinal cord compression in syndromic craniosynostosis is low and is not correlated to sleep disturbances. However, considering the high prevalence of obstructive sleep apnea in syndromic craniosynostosis and the low prevalence of compression and central sleep apnea in our study, we would, nevertheless, recommend a polysomnography in case of compression on MR imaging studies.

Functional outcomes in patients with facial dysostosis and severe upper airway obstruction.

An increased risk of upper airway obstruction (UAO) is seen in up to 95% of patients with facial dysostosis. Secondary to respiratory problems are feeding difficulties and increased nutritional requirements. Little has been described regarding these outcomes in this patient population. Hence, a retrospective cohort study was performed to gather data on functional outcomes. Eighteen patients with facial dysostosis and severe UAO were included. The median follow-up time was 3.42 years. A tracheostomy tube was placed in 13 patients, of whom 10 subsequently underwent mandibular distraction. Three of the five patients without a tracheostomy underwent mandibular distraction as the primary surgical treatment; the remaining two patients were treated conservatively with oxygen supplementation. At presentation, 13 patients had feeding difficulties. Overall malnutrition was present in 16 patients during follow-up. At the end of follow-up, severe UAO was present in 12 patients, feeding difficulties in seven patients, and malnutrition in four patients, while two patients died. In conclusion, patients with facial dysostosis have a high prevalence of severe UAO, feeding difficulties, and malnutrition. Importantly, mandibular distraction has limited success in treating severe UAO in these patients. Close follow-up by a specialized craniofacial team is of paramount importance to manage the long-term consequences.

Neurological deficits are present in syndromic craniosynostosis patients with and without tonsillar herniation.

BACKGROUND: Children with syndromic craniosynostosis (sCS) have a higher incidence of cerebellar tonsillar herniation (TH) than the general population. In the general population, TH ≥ 5 mm below the foramen magnum is associated with typical neurological deficits but, in sCS, we do not know whether this degree of TH is required before such deficits occur. OBJECTIVE: This prospective cohort study aimed to determine the association between findings on neurological assessment and cerebellar tonsillar position. METHODS: Magnetic resonance imaging (MRI) was used to determine TH ≥ 5 mm and the presence of syringomyelia. In regard to the outcome of neurological deficits, these were categorized according to: A, cerebellar function; B, cranial nerve abnormalities; and C, sensory or motor dysfunction. RESULTS: Twenty of 63 patients with sCS (32% [95% confidence interval 21-45%]) had TH ≥ 5 mm and/or syringomyelia. There was no significant difference in proportion between individual forms of sCS: 16/34 Crouzon, 2/11 Muenke, 2/12 Apert, and 0/7 Saethre-Chotzen patients. Neurological deficits were prevalent (73% [95% confidence interval 60-83%]), and as frequent in patients with TH ≥ 5 mm and/or syringomyelia as those without. Surgery occurred in 3 patients overall, and only in Crouzon patients. CONCLUSION: Determining the effect of TH ≥ 5 mm on neurologic functioning in sCS patients is used to better determine when surgical intervention is warranted. However, we have found that neurological deficits are prevalent in sCS patients, irrespective of cerebellar tonsillar position, suggesting that such findings are developmental and, in part, syndrome-specific central nervous system features.

Anxiety and depression in adolescents with a visible difference: A systematic review and meta-analysis.

Living with a visible difference can entail challenging social situations, associated with psychosocial symptoms. However, it is not clear whether adolescents with a visible difference experience more anxiety and depression than unaffected peers. We aim to determine whether adolescents with a visible difference experience more symptoms of anxiety and depression than unaffected peers. A literature search was conducted in Embase, Medline Ovid, Web of Science, Cochrane CENTRAL, PsycINFO Ovid, and Google Scholar. Meta-analyses were done using random-effects models to calculate a standardised mean difference. Analyses for subgroups were used to study causes of visible difference. Eleven studies were identified (n = 1075, weighted mean age = 15.80). Compared to unaffected peers, adolescents with a visible difference experience more symptoms of anxiety (SMD = 0.253, 95 % CI [0.024, 0.482], p = .030), but not depression (SMD = 0.236, 95 % CI [-0.126, 0.599], p = .202). Adolescents with a skin condition did not experience more symptoms of anxiety (SMD = 0.149, 95 % CI [-0.070, 0.369], p = .182) or depression (SMD = 0.090, 95 % CI [-0.082, 0.262], p = .305) when compared to unaffected peers. Overall, more symptoms of anxiety are found in adolescents with a visible difference compared to peers. No differences in anxiety or depression were found for skin differences. Screening for anxiety is recommended.

Deviating dental arch morphology in mild coronal craniosynostosis syndromes.

OBJECTIVES: To determine whether the intramaxillary relationship of patients with Muenke syndrome and Saethre-Chotzen syndrome or TCF12-related craniosynostosis are systematically different than those of a control group. MATERIAL AND METHODS: Forty-eight patients (34 patients with Muenke syndrome, 8 patients with Saethre-Chotzen syndrome, and 6 patients with TCF12-related craniosynostosis) born between 1982 and 2010 (age range 4.84 to 16.83 years) that were treated at the Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Children's Hospital Erasmus University Medical Center, Sophia, Rotterdam, the Netherlands, were included. Forty-seven syndromic patients had undergone one craniofacial surgery according to the craniofacial team protocol. The dental arch measurements intercanine width (ICW), intermolar width (IMW), arch depth (AD), and arch length (AL) were calculated. The control group existed of 329 nonsyndromic children. RESULTS: All dental arch dimensions in Muenke (ICW, IMW, AL, p < 0.001, ADmax, p = 0.008; ADman, p = 0.002), Saethre-Chotzen syndrome, or TCF12-related craniosynostosis patients (ICWmax, p = 0.005; ICWman, IMWmax, AL, p < 0.001) were statistically significantly smaller than those of the control group. CONCLUSIONS: In this study, we showed that the dental arches of the maxilla and the mandible of patients with Muenke syndrome and Saethre-Chotzen syndrome or TCF12-related craniosynostosis are smaller compared to those of a control group. CLINICAL RELEVANCE: To gain better understanding of the sutural involvement in the midface and support treatment capabilities of medical and dental specialists in these patients, we suggest the concentration of patients with Muenke and Saethre-Chotzen syndromes or TCF12-related craniosynostosis in specialized teams for a multi-disciplinary approach and treatment.

Vertebral anomalies in craniofacial microsomia: a systematic review.

Craniofacial microsomia (CFM) is characterized by a heterogeneous underdevelopment of the facial structures arising from the first and second branchial arches, but extracraniofacial malformations such as vertebral anomalies also occur. This systematic review provides an overview of the literature on the types and prevalence of vertebral anomalies found in patients with CFM. A systematic search was conducted. Data on the number of patients, patient characteristics, types and prevalence of vertebral anomalies, and other associations between CFM and vertebral anomalies were extracted from the articles identified. Thirty-one articles were included. Seventeen articles described both the prevalence and types of vertebral anomalies in CFM, five articles described solely the types of vertebral anomalies in CFM, and nine articles reported solely the prevalence of vertebral anomalies in CFM. The vertebral anomalies most often reported in CFM are hemivertebrae, block vertebrae, scoliosis/kyphoscoliosis, and spina bifida. These anomalies are mostly present in the cervical and thoracic spine and ribs. The reported prevalence of vertebral anomalies in CFM varies from 8% to 79%. To diagnose vertebral anomalies early in patients with CFM, further research should focus on determining which patients with CFM are at risk of vertebral anomalies.

Obstructive sleep apnoea in craniofacial microsomia: analysis of 755 patients.

A retrospective cohort study was set up to analyse the prevalence and treatment of obstructive sleep apnoea (OSA) in relation to the severity of the deformity in patients with craniofacial microsomia (CFM). This study included a population of 755 patients with CFM from three craniofacial centres. Medical charts were reviewed for severity of the deformity, types of breathing difficulty, age at which breathing difficulty first presented, treatment for OSA, and treatment outcome. In total, 133 patients (17.6%) were diagnosed with OSA. Patients with Pruzansky IIB/III classification or bilateral craniofacial microsomia were significantly more often diagnosed with OSA than unilaterally affected patients of Pruzansky I/IIA classification. The initial treatment of OSA consisted of adenotonsillectomy, tracheotomy, or non-invasive positive pressure ventilation. Thirty-seven patients received more than one treatment (range 1-3). In this study, the prevalence of OSA in patients with CFM was higher than the prevalence in the healthy population described in the literature. Although several treatment modalities are available for the treatment of OSA in patients with CFM, treatment should be individualized and based on clinical symptoms, the severity of the deformity, and comorbidities.

Abnormal transcranial Doppler cerebral blood flow velocity and blood pressure profiles in children with syndromic craniosynostosis and papilledema.

OBJECTIVE: Children with syndromic craniosynostosis are at risk of intracranial hypertension. This study aims to examine patient profiles of transcranial Doppler (TCD) cerebral blood flow velocity (CBFv) and systemic blood pressure (BP) in subjects with and without papilledema at the time of surgery, and subsequent effect of cranial vault expansion. METHODS: Prospective study of patients treated at a national referral center. Patients underwent TCD of the middle cerebral artery 1 day before and 3 weeks after surgery. Measurements included mean CBFv, peak systolic velocity, and end diastolic velocity; age-corrected resistive index (RI) was calculated. Systemic BP was recorded. Papilledema was used to indicate intracranial hypertension. RESULTS: Twelve patients (mean age 3.1 years, range 0.4-9.5) underwent TCD; 6 subjects had papilledema. Pre-operatively, patients with papilledema, in comparison to those without, had higher TCD values, RI, and BP (all p = 0.04); post-operatively, the distinction regarding BP remained (p = 0.04). There is a significant effect of time following vault surgery with a decrease in RI (p < 0.01). CONCLUSION: Patients with syndromic craniosynostosis who have papilledema have a different TCD profile with raised BP. Vault surgery results in increased CBFv and decrease in RI, however the associated systemic BP response to intracranial hypertension remained at short-term follow-up.

Diffusion Tensor Imaging and Fiber Tractography in Children with Craniosynostosis Syndromes.

BACKGROUND AND PURPOSE: Patients with craniosynostosis syndromes caused by mutations in FGFR-2, FGFR-3, and TWIST1 genes are characterized by having prematurely fused skull sutures and skull base synchondroses, which result in a skull deformity and are accompanied by brain anomalies, including altered white matter microarchitecture. In this study, the reliability and reproducibility of DTI fiber tractography was investigated in these patients. The outcomes were compared with those of controls. MATERIALS AND METHODS: DTI datasets were acquired with a 1.5T MR imaging system with 25 diffusion gradient orientations (voxel size = 1.8 × 1.8 × 3.0 mm(3), b-value = 1000 s/mm(2)). White matter tracts studied included the following: corpus callosum, cingulate gyrus, fornix, corticospinal tracts, and medial cerebellar peduncle. Tract pathways were reconstructed with ExploreDTI in 58 surgically treated patients with craniosynostosis syndromes and 7 controls (age range, 6-18 years). RESULTS: Because of the brain deformity and abnormal ventricular shape and size, DTI fiber tractography was challenging to perform in patients with craniosynostosis syndromes. To provide reliable tracts, we adapted standard tracking protocols. Fractional anisotropy was equal to that in controls (0.44 versus 0.45 ± 0.02, P = .536), whereas mean, axial, and radial diffusivity parameters of the mean white matter were increased in patients with craniosynostosis syndromes (P < .001). No craniosynostosis syndrome-specific difference in DTI properties was seen for any of the fiber tracts studied in this work. CONCLUSIONS: Performing DTI fiber tractography in patients with craniosynostosis syndromes was difficult due to partial volume effects caused by an anisotropic voxel size and deformed brain structures. Although these patients have a normal fiber organization, increased diffusivity parameters suggest abnormal microstructural tissue properties of the investigated white matter tracts.

Obstructive sleep apnoea in craniofacial microsomia: a systematic review.

Children with craniofacial microsomia (CFM) are at risk of obstructive sleep apnoea (OSA). This systematic review provides an overview of the literature on the prevalence of OSA in children with CFM. A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and OSA. The following data were extracted from the articles: number of patients, patient characteristics, presence of OSA, polysomnography outcomes, and the treatments and outcomes of OSA. We included 16 articles on CFM and OSA, four of which reported the prevalence of OSA (range 7-67%). Surgical treatment was more often described in these patients than conservative treatment. According to the literature, OSA is related to CFM. However, as there have been no prospective studies and few studies have presented objective measurements, no definitive conclusions can be drawn. Prospective studies are needed to determine the prevalence of OSA in patients with CFM.

Feeding difficulties in craniofacial microsomia: a systematic review.

Patients with craniofacial microsomia are at higher risk of developing obstructive sleep apnoea (OSA), as described in the previous article entitled "Obstructive sleep apnoea in craniofacial microsomia: a systematic review". These patients are also more likely to develop feeding difficulties. The present systematic review provides an overview of the literature on the prevalence, treatment, and follow-up of feeding difficulties in children with craniofacial microsomia (CFM). A search was performed in PubMed, Embase, Cochrane Library, and Web of Science for articles on CFM and feeding difficulties. The following data were extracted from the articles: number of patients, patient characteristics, presence of feeding difficulties, and the treatment and outcomes of feeding difficulties. Eight articles on CFM and feeding difficulties were included, two of which reported the prevalence of feeding difficulties (range 42-83%). Treatment mostly consisted of tube feeding. No information regarding follow-up was found in these articles. According to the literature, feeding difficulties are related to CFM. However, as there have been no prospective studies and few studies have presented objective measurements, no definitive conclusions can be drawn. Prospective studies are needed to determine the prevalence of feeding difficulties in patients with CFM.