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Journal of Neuromuscular Diseases 2024Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There...
BACKGROUND
Facial weakness is a key feature of facioscapulohumeral muscular dystrophy (FSHD) and may lead to altered facial expression and subsequent psychosocial impairment. There is no cure and supportive treatments focus on optimizing physical fitness and compensation of functional disabilities.
OBJECTIVE
We hypothesize that symptomatic treatment options and psychosocial interventions for other neurological diseases with altered facial expression could be applicable to FSHD. Therefore, the aim of this review is to collect symptomatic treatment approaches that target facial muscle function and psychosocial interventions in various neurological diseases with altered facial expression in order to discuss the applicability to FSHD.
METHODS
A systematic search was performed. Selected studies had to include FSHD, Bell's palsy, Moebius syndrome, myotonic dystrophy type 1, or Parkinson's disease and treatment options which target altered facial expression. Data was extracted for study and patients' characteristics, outcome assessment tools, treatment, outcome of facial expression and or psychosocial functioning.
RESULTS
Forty studies met the inclusion criteria, of which only three studies included FSHD patients exclusively. Most, twenty-one, studies were performed in patients with Bell's palsy. Studies included twelve different therapy categories and results were assessed with different outcomes measures.
CONCLUSIONS
Five therapy categories were considered applicable to FSHD: training of (non-verbal) communication compensation strategies, speech training, physical therapy, conference attendance, and smile restoration surgery. Further research is needed to establish the effect of these therapies in FSHD. We recommend to include outcome measures in these studies that cover at least cosmetic, functional, communication, and quality of life domains.
Topics: Muscular Dystrophy, Facioscapulohumeral; Humans; Facial Expression; Facial Muscles; Bell Palsy
PubMed: 38517799
DOI: 10.3233/JND-230213 -
BMC Oral Health Feb 2024Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral...
BACKGROUND
Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management.
METHODS
A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines. Qualitative analysis was carried out on the overall result, extraoral and intraoral manifestations, considering dental management as appropriate.
RESULTS
Twenty-three studies were included, and a total of 124 cases of patients with MS were analyzed. The 82% of patients with MS were younger than 15 years of age. The most frequent extraoral manifestations were blinking and visual problems (78,22%), malformations of the upper and lower limbs (58,22%), bilateral facial paralysis (12,90%), lack of facial expression (12.09%), and unilateral facial paralysis (6,45%). On the other hand, the most frequent oral manifestations were tongue deformities (78,22%), micrognathia (37,90%), labial incompetence (36,29%), cleft palate (22,87%), gothic palate (16,12%), microstomia (15,32%), anterior open bite (15,32%), dental caries (8,87%), and periodontal disease (8,06%). The majority of MS patients were treated by pediatric dentistry (60,86%), using a surgical approach (56,52%), and orthodontic and orthopedic maxillary (43,47%) followed by restorative (39,13%), and periodontal treatments (21,73%).
CONCLUSIONS
This systematic review demonstrates that patients with MS present a wide variety of oral and extraoral manifestations, for which dental treatments are planned and tailored to each patient in accordance with oral manifestations. These treatments encompass problem resolution and oral health maintenance, incorporating recent techniques in managing and treating patients with MS.
Topics: Child; Humans; Mobius Syndrome; Facial Paralysis; Dental Caries; Cleft Palate; Dental Care
PubMed: 38321523
DOI: 10.1186/s12903-024-03968-6 -
Scientific Reports Sep 2021Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global pandemic with significant mortality....
Coronavirus disease 19 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has become a global pandemic with significant mortality. Accurate information on the specific circumstances of death and whether patients died from or with SARS-CoV-2 is scarce. To distinguish COVID-19 from non-COVID-19 deaths, we performed a systematic review of 735 SARS-CoV-2-associated deaths in Hamburg, Germany, from March to December 2020, using conventional autopsy, ultrasound-guided minimally invasive autopsy, postmortem computed tomography and medical records. Statistical analyses including multiple logistic regression were used to compare both cohorts. 84.1% (n = 618) were classified as COVID-19 deaths, 6.4% (n = 47) as non-COVID-19 deaths, 9.5% (n = 70) remained unclear. Median age of COVID-19 deaths was 83.0 years, 54.4% were male. In the autopsy group (n = 283), the majority died of pneumonia and/or diffuse alveolar damage (73.6%; n = 187). Thromboses were found in 39.2% (n = 62/158 cases), pulmonary embolism in 22.1% (n = 56/253 cases). In 2020, annual mortality in Hamburg was about 5.5% higher than in the previous 20 years, of which 3.4% (n = 618) represented COVID-19 deaths. Our study highlights the need for mortality surveillance and postmortem examinations. The vast majority of individuals who died directly from SARS-CoV-2 infection were of advanced age and had multiple comorbidities.
Topics: Adult; Age Factors; Aged; Aged, 80 and over; Alveolar Epithelial Cells; Autopsy; COVID-19; Comorbidity; Female; Germany; Humans; Lung; Male; Middle Aged; Mortality; Pneumonia; Prospective Studies; Pulmonary Embolism; SARS-CoV-2; Thrombosis
PubMed: 34588486
DOI: 10.1038/s41598-021-98499-3 -
International Journal of Environmental... Jul 2020Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children...
INTRODUCTION
Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy.
METHODS
MEDLINE, CINAHL, Embase, PsychInfo and AMED databases were searched and data was extracted with regards to participant characteristics, study methodology, outcome measures used, psychosocial adjustment and study quality.
RESULTS
Five studies were eligible for inclusion, all of which investigated psychosocial adjustment in participants with Moebius syndrome, a form of congenital facial palsy. Many parents reported their children to have greater social difficulties than general population norms, with difficulties potentially increasing with age. Other areas of psychosocial adjustment, including behaviour, anxiety and depression, were found to be more comparable to the general population.
DISCUSSION
Children and adolescents with Moebius syndrome may experience social difficulties. However, they also demonstrate areas of resilience. Further research including individuals with facial palsy of other aetiologies is required in order to determine the psychosocial adjustment of children and adolescents with facial palsy.
Topics: Adolescent; Anxiety; Anxiety Disorders; Child; Cross-Sectional Studies; Emotional Adjustment; Facial Paralysis; Female; Humans; Male; Mobius Syndrome
PubMed: 32751746
DOI: 10.3390/ijerph17155528 -
American Journal of Medical Genetics.... Feb 2019Moebius syndrome is a highly variable syndrome with abducens and facial nerve palsy as core features. Strict diagnostic criteria do not exist and the inconsistency of...
Moebius syndrome is a highly variable syndrome with abducens and facial nerve palsy as core features. Strict diagnostic criteria do not exist and the inconsistency of the associated features makes determination difficult. To determine what features are associated with Moebius syndrome we performed a systematic literature review resulting in a composite case series of 449 individuals labeled with Moebius syndrome. We applied minimum criteria (facial and abducens palsy) to determine the prevalence of associated clinical features in this series. Additionally, we performed statistical cluster analysis to determine which features tended to occur together. Our study comprises the largest series of patients with Moebius syndrome and the first to apply statistical methodology to elucidate clinical relationships. We present evidence for two groups within the Moebius diagnosis. Type 1: exhibiting micrognathia, limb anomalies and feeding/swallowing difficulty that tend to occur together. Type 2: phenotypically diverse but more associated with radiologically detectable neurologic abnormalities and developmental delay.
Topics: Abducens Nerve; Developmental Disabilities; Facial Nerve Diseases; Facial Paralysis; Female; Humans; Male; Mobius Syndrome
PubMed: 30556292
DOI: 10.1002/ajmg.a.60683 -
Acta Ortopedica Mexicana 2017Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually...
BACKGROUND
Adduct congenital talipes equinovarus (CTE) or clubfoot is a common musculoskeletal malformation affecting between 1 and 4.5 out of every 1000 live births. It is usually associated with arthrogryposis and Moebius syndrome with the latter two being more difficult to treat as they require aggressive surgery to achieve a plantigrade foot. We therefore ask what is the evidence level and grade of recommendation of the Ponseti method to treat syndromic talipes equinovarus resulting from arthrogryposis and Moebius syndrome.
METHODS
Systematic review according to the recommendations of the Cochrane group identifying medical subheadings (MeSH) and of the Boolean method to identify the articles that met the selection criteria through the search of primary sources such as OVID, Cochrane, EBSCOhost, Elsevier, Medigraphic.
RESULTS
A total of six papers met the selection criteria through the search in the primary sources. Five of them address the treatment of adduct CTE with the Ponseti method in patients with arthrogryposis, and one in patients with Moebius. Evidence levels and grades of recommendation of these papers were: IV-D (3), III-D (1) y II (B).
CONCLUSIONS
The Ponseti method is an first-line treatment for arthrogryposis and Moebius syndrome. It is unexpensive, non-invasive and does not require a physician to perform it (however, it does require trained staff). Its use is recommended as it avoids extensive surgeries and medical complications that go beyond the hospitals economic possibilities.
Topics: Arthrogryposis; Casts, Surgical; Clubfoot; Humans; Infant; Mobius Syndrome; Orthopedic Procedures; Treatment Outcome
PubMed: 29216694
DOI: No ID Found -
Reproductive Toxicology (Elmsford, N.Y.) Nov 2006The present systematic review was proposed with the objective of estimating the risk of congenital anomalies and other adverse events in children exposed to misoprostol... (Meta-Analysis)
Meta-Analysis Review
The present systematic review was proposed with the objective of estimating the risk of congenital anomalies and other adverse events in children exposed to misoprostol during fetal life. The data source consisted of case-control studies that analyzed the effect of prenatal exposure to misoprostol on the pregnancy outcome, which were located in electronic databases and published up to June 2005. The outcomes of interest included congenital anomalies, fetal death, low birth weight and prematurity. The odds ratios (OR) for the individual studies were pooled by meta-analysis. Sensitivity tests and heterogeneity analysis were performed. Four studies involving 4899 cases of congenital anomalies and 5742 controls were included in accordance with the selection criteria. None of the studies analyzed other adverse effects from misoprostol on the outcome from gestation. Increased risks of congenital anomalies related to misoprostol use were found for any congenital defect (OR=3.56; 95% CI: 0.98-12.98), Möbius sequence (OR=25.31; 95% CI: 11.11-57.66) and terminal transverse limb defects (OR=11.86; 95% CI: 4.86-28.90). In conclusion, prenatal exposure to misoprostol is associated with an increased risk of Möbius sequence and terminal transverse limb defects.
Topics: Anti-Ulcer Agents; Case-Control Studies; Congenital Abnormalities; Dose-Response Relationship, Drug; Female; Humans; Limb Deformities, Congenital; Misoprostol; Mobius Syndrome; Pregnancy
PubMed: 16750609
DOI: 10.1016/j.reprotox.2006.03.015