Facial Features Of Patients Research Articles

3D morphological changes of the lip and face in patients with cleft lip and alveolus: The comparison of the lip development of incomplete and complete cleft lips under 3 months of age

AbstractTo treat cleft lip and palate, it is critical to understand the development of the lips and face.ObjectiveThe objective of this study is to comprehend the development of lips and facial features in patients with cleft lip from birth to cheiloplasty. A comparison of incomplete and complete cleft lips was performed.MethodsThe morphology of the lips and face was recorded using a noncontact three‐dimensional morphology recorder from shortly after birth to cheiloplasty. For each patient, their soft tissue growth was analyzed.ResultsThese findings suggest that an incomplete cleft widens the gap between healthy and affected sides from 2 to 3 months of age. The pattern is different from that of a complete cleft.

A Markerless 2D Video, Facial Feature Recognition-Based, Artificial Intelligence Model to Assist With Screening for Parkinson Disease: Development and Usability Study.

BackgroundMasked face is a characteristic clinical manifestation of Parkinson disease (PD), but subjective evaluations from different clinicians often show low consistency owing to a lack of accurate detection technology. Hence, it is of great significance to develop methods to make monitoring easier and more accessible.ObjectiveThe study aimed to develop a markerless 2D video, facial feature recognition–based, artificial intelligence (AI) model to assess facial features of PD patients and investigate how AI could help neurologists improve the performance of early PD diagnosis.MethodsWe collected 140 videos of facial expressions from 70 PD patients and 70 matched controls from 3 hospitals using a single 2D video camera. We developed and tested an AI model that performs masked face recognition of PD patients based on the acquisition and evaluation of facial features including geometric and texture features. Random forest, support vector machines, and k-nearest neighbor were used to train the model. The diagnostic performance of the AI model was compared with that of 5 neurologists.ResultsThe experimental results showed that our AI models can achieve feasible and effective facial feature recognition ability to assist with PD diagnosis. The accuracy of PD diagnosis can reach 83% using geometric features. And with the model trained by random forest, the accuracy of texture features is up to 86%. When these 2 features are combined, an F1 value of 88% can be reached, where the random forest algorithm is used. Further, the facial features of patients with PD were not associated with the motor and nonmotor symptoms of PD.ConclusionsPD patients commonly exhibit masked facial features. Videos of a facial feature recognition–based AI model can provide a valuable tool to assist with PD diagnosis and the potential of realizing remote monitoring of the patient’s condition, especially during the COVID-19 pandemic.

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants, including nine outside the ATPase/helicase domain. All patients were detected with unbiased molecular genetic methods. There is not a significant difference in the clinical or facial features of patients with variants in or outside this domain. These additional patients further expand the clinical and molecular data associated with CHD3 variants. Importantly we conclude that there is not a significant difference in the phenotypic features of patients with various molecular disruptions, including whole gene deletions and duplications, and missense variants outside the ATPase/helicase domain. This data will aid both clinical geneticists and molecular geneticists in the diagnosis of this emerging syndrome.

Recognizable facial features in patients with alternating hemiplegia of childhood.

Alternating hemiplegia of childhood is an early onset neurodevelopmental disorder characterized by paroxystic episodes of alternating hemiplegia, variable degrees of intellectual disability, and dystonic movements. The main causative gene, ATP1A3, is also responsible for other neurodevelopmental disorders. While the neurological profile of this condition is well defined, the question whether a recognizable pattern of physical anomalies does exist in this condition is still open. We performed a morphological evaluation of 30 patients at different ages. All patients were evaluated independently by each author and evaluation sheets were compared, discussed, and agreed afterwards. This study started before the identification of ATP1A3 as the causative gene, and the patients were selected upon their neurological picture. Four of these 30 patients tested negative for ATP1A3 mutations and were excluded from the present work. On physical ground, almost all patients shared a similar physical phenotype consisting of hypotonia, long face, thin eyebrows, strabismus, hypertelorism, long palpebral fissures, downturned mouth, and slender habitus. Such phenotype is sufficiently typical to generate a recognizable gestalt. We also evaluated patients photographs taken from the parents in early childhood (6-20 months) to delineate a clinical profile possibly recognizable before the neurological signs suggest the diagnosis. Our data suggest that the typical early gestalt is sufficient to advise the molecular analysis of ATP1A3, even in absence of the pathognomonic neurological signs. Finally, since a number of patients is now adult, some information can be drawn on the phenotypic evolution of the facial appearance of patients with alternating hemiplegia of childhood. © 2016 Wiley Periodicals, Inc.

Attentional mechanisms of social perception are biased in social phobia

Previous studies of social phobia have reported an increased vigilance to social threat cues but also an avoidance of socially relevant stimuli such as eye gaze. The primary aim of this study was to examine attentional mechanisms relevant for perceiving social cues by means of abnormalities in scanning of facial features in patients with social phobia. In two novel experimental paradigms, patients with social phobia and healthy controls matched on age, gender and education were compared regarding their gazing behavior towards facial cues. The first experiment was an emotion classification paradigm which allowed for differentiating reflexive attentional shifts from sustained attention towards diagnostically relevant facial features. In the second experiment, attentional orienting by gaze direction was assessed in a gaze-cueing paradigm in which non-predictive gaze cues shifted attention towards or away from subsequently presented targets. We found that patients as compared to controls reflexively oriented their attention more frequently towards the eyes of emotional faces in the emotion classification paradigm. This initial hypervigilance for the eye region was observed at very early attentional stages when faces were presented for 150ms, and persisted when facial stimuli were shown for 3s. Moreover, a delayed attentional orienting into the direction of eye gaze was observed in individuals with social phobia suggesting a differential time course of eye gaze processing in patients and controls. Our findings suggest that basic mechanisms of early attentional exploration of social cues are biased in social phobia and might contribute to the development and maintenance of the disorder.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

Kabuki syndrome is a congenital anomaly syndrome characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third of the lower eyelids, prominent digit pads, and skeletal and visceral abnormalities. Mutations in MLL2 and KDM6A cause Kabuki syndrome. We screened 81 individuals with Kabuki syndrome for mutations in these genes by conventional methods (n = 58) and/or targeted resequencing (n = 45) or whole exome sequencing (n = 5). We identified a mutation in MLL2 or KDM6A in 50 (61.7%) and 5 (6.2%) cases, respectively. Thirty-five MLL2 mutations and two KDM6A mutations were novel. Non-protein truncating-type MLL2 mutations were mainly located around functional domains, while truncating-type mutations were scattered through the entire coding region. The facial features of patients in the MLL2 truncating-type mutation group were typical based on those of the 10 originally reported patients with Kabuki syndrome; those of the other groups were less typical. High arched eyebrows, short fifth finger, and hypotonia in infancy were more frequent in the MLL2 mutation group than in the KDM6A mutation group. Short stature and postnatal growth retardation were observed in all individuals with KDM6A mutations, but in only half of the group with MLL2 mutations.

Facial features of patients with sickle cell anemia

To characterize the craniofacial features of patients with sickle cell anemia (SCA). Fifty patients with SCA in the north of Minas Gerais, Brazil, were evaluated using standardized photographs (front and profile) for a subjective facial analysis and digital radiographs for a computerized cephalometric analysis. To obtain linear and angular measurements, cephalometric points were marked on the digital images by a single examiner, using the program Radiocef 6.0, and facial analyses were performed by four different orthodontists. Of the population studied, 28 patients were female with a mean age of 27.7 years. Most of the patients (64%) had their faces classified as esthetically acceptable, although results showed a predominance of convex profiles (72%). The mean of the SNA angle was 84.56°, diagnosing proper positioning of the maxilla from the base of the skull. The prevalence of pattern II was 32%, and 31% showed maxillary protrusion; the effective length of the maxilla was reduced in 64%. Retrusion of the mandible was observed in 30%, and 76% had reduced mandibular length. Four measurements (mandibular length, maxillary length, anterior face height, and maxillomandibular difference) showed statistically significant differences between genders, where these measurements were higher for males than for females. Most patients did not show compensatory maxillary expansion, which was determined by the prevalence of decreased maxillary length (64%) and by the absence of maxillary protrusion in 69% of the SCA patients evaluated.

Assessing Outcomes in Facial Reanimation: Evaluation and Validation of the SMILE System for Measuring Lip Excursion During Smiling

Assessing Outcomes in Facial Reanimation: Evaluation and Validation of the SMILE System for Measuring Lip Excursion During Smiling

Neurological assessment of facial features in patients with cerebrovascular disease

Objective: In the treatment of post-acute cerebrovascular disease it may be possible to assess the consciousness levels of patients who have difficulty communicating by evaluating changes in facial features. To determine the usefulness of changes in facial features for assessment in neurological nursing, the correlation between the process of recovery from consciousness disturbance and the facial features of patients with cerebrovascular disease was investigated. Methods: Using a tool for facial image processing, the average faces of three patients with cerebrovascular disease were produced and the nurses then instructed to describe the characteristic changes in facial features associated with the process of recovery from consciousness disturbance. Results: As patient consciousness levels improved, facial features such as eyelid muscles, mouth muscles, and orofacial contours changed, owing to improved motor function of the mandibular bone. Changes in facial features are useful for assessment in neurological nursing. Conclusions: These findings could form the foundation for nursing research on facial assessment involving greater numbers of subjects.

Cephalometric measurements and facial deformities in subjects with -thalassaemia major

This study was performed to identify cephalometric and facial features of patients with beta-thalassaemia major. A total of 54 thalassaemic subjects were examined for craniofacial deformities, including 37 patients (24 males and 13 females, aged 5-16 years) who had lateral cephalometric radiographs. The thalassaemic groups were compared with a normal control group matched for sex and dental age, using a t-test. All thalassaemic patients had a Class II skeletal base relationship. The average ANB angle was significantly larger than the controls in dental stages 2 and 3 (P < 0.05). Mandibular base length (Ar-Gn) was significantly less in thalassaemic patients than in controls, with the greatest differences (P < 0.001) found in the younger age group. The maxilla was of normal length (PNS-ANS, Ptm'-ANS') and appeared prominent (3.3 mm in males and 5.1 mm in females) due to a reduced cranial base length (Ar'-S') and a short mandible (Ar'-P'). Vertically, thalassaemic patients showed a significantly increased maxillary/mandibular planes angle in all groups, with differences ranging between 6.19 and 12.55 degrees (P < 0.001). Thalassaemic patients also showed a reduced posterior facial height (S-Go, Ar-Go) and increased anterior facial proportions. Of the 54 thalassaemic patients examined, 17 per cent had severe facial disfigurements (grade 3).

Automated Tracking of Facial Features in Patients with Facial Neuromuscular Dysfunction

Facial neuromuscular dysfunction severely impacts adaptive and expressive behavior and emotional health. Appropriate treatment is aided by quantitative and efficient assessment of facial motion impairment. We validated a newly developed method of quantifying facial motion, automated face analysis (AFA), by comparing it with an established manual marking method, the Maximal Static Response Assay (MSRA). In the AFA, motion of facial features is tracked automatically by computer vision without the need for placement of physical markers or restrictions of rigid head motion. Nine patients (seven women and two men) with a mean age of 39.3 years and various facial nerve disorders (five with Bell's palsy, three with trauma, and one with tumor resection) participated. The patients were videotaped while performing voluntary facial action tasks (brow raise, eye closure, and smile). For comparison with MSRA, physical markers were placed on facial landmarks. Image sequences were digitized into 640 x 480 x 24-bit pixel arrays at 30 frames per second (1 pixel congruent with0.3 mm). As defined for the MSRA, the coordinates of the center of each marker were manually recorded in the initial and final digitized frames, which correspond to repose and maximal response. For the AFA, these points were tracked automatically in the image sequence. Pearson correlation coefficients were used to evaluate consistency of measurement between manual (the MSRA) and automated (the AFA) tracking methods, and paired t tests were used to assess the mean difference between methods for feature tracking. Feature measures were highly consistent between methods, Pearson's r = 0.96 or higher, p < 0.001 for each of the action tasks. The mean differences between the methods were small; the mean error between methods was comparable to the error within the manual method (less than 1 pixel). The AFA demonstrated strong concurrent validity with the MSRA for pixel-wise displacement. Tracking was fully automated and provided motion vectors, which may be useful in guiding surgical and rehabilitative approaches to restoring facial function in patients with facial neuromuscular disorders.

Automatic tracking of facial features in patients with facial neuromuscular dysfunction

Automatic tracking of facial features in patients with facial neuromuscular dysfunction