Moebius Syndrome: Clinical Manifestations in a Pediatric Patient

Moebius syndrome is a congenital, nonprogressive disorder clinically characterized by loss of facial expression, impaired stomatognathic system functions, incapacity to close the eyelids, and several oral impairments. The purpose of this paper was to present the clinical manifestations and the dental treatment in a 5-year, 2-month-old male Moebius syndrome patient. The child presented with facial asymmetry, difficulty performing facial mimic movements and pronouncing some letters, and compromised suction, mastication, breathing, and deglutition. An intraoral examination revealed hypofunction of the perioral muscles, cheeks and tongue, ankyloglossia, anterior open bite, and absence of carious lesions and dental anomalies. The dental treatment consisted of frenectomy and further placement of a removable orthodontic appliance with a palatal crib for correction of the anterior open bite. After 12 months of follow-up, anterior open bite decreased and speech, deglutition, and mastication improved. (Pediatr Dent 2009;31:289-93) Received March 8, 2008 vertical bar Lost Revision July 22, 2008 vertical bar Revision Accepted July 28, 2008

Seqüência de moebius: Manifestações clínicas e avaliação auditiva

Introduction: Children with Moebius syndrome may present paralysis of cranial nerves III, IV, V, VI, VII, VIII, IX, X and XII, compromising motor and sensorial functions. Hands and feet defects (syndactyly, equinovarus and arthrogryposis) are frequently associated. These manifestations can be attributed to the use of misoprostol during pregnancy to induce abortion. Study design: Clinical prospective. Aim: To evaluate the main clinical manifestations, hearing acuity and possible etiologic factors in children with Moebius syndrome. Material and method: The children were submitted to clinical, otolaryngological and hearing acuity assessment. Hearing acuity was evaluated through behavioral tests, pure tone audiometry, tympanometry and auditory brainstem response (ABR). We investigated possible etiologic factors. Results: Three boys and two girls were evaluated. The main manifestations were: facial paralysis, paralysis of masseter muscle, defects in dental occlusion, retraction of tympanic membrane, equinovarus, oblique palpebral fissure and tongue atrophy. Conductive hearing loss was detected in three children and sensorineural hearing loss in one child. The use of misoprostol during pregnancy was reported by four mothers. Conclusions: The children with Moebius syndrome evaluated in the present study manifested palsies of various cranial nerves, especially V, VII and XII nerves, responsible for motor and sensorial alterations. Inadequate eustachian tube function associated to conductive hearing loss was frequent. The use of misoprostol during pregnancy was reported by the mothers and it was considered a possible etiologic factor.

Estratégias de reparo utilizadas na substituição de segmento consonantal em portadores da síndrome de Moebius: uma análise otimalista

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Consumo de sustancias y noxas prenatales en madres de pacientes con síndrome de Möbius y Möbius Like

Introducción: El síndrome de Möbius y Möbius Like es una entidad poco frecuente caracterizada principalmente por parálisis congénita del VI y VII par craneal. Su etiología es poco conocida aunque se ha asociado a inductores del aborto. El objetivo de este estudio es describir factores anómalos, tóxicos o nocivos que hayan estado presentes en el embarazo de las madres de estos pacientes. Metodología: se realizó una encuesta auto-diligenciable a 15 madres de pacientes con el diagnóstico, indagando sobre condiciones anómalas y/o exposicionales del embarazo, el padre y el ambiente. Resultados: Las madres se encontraban entre los 16 y 34 años al momento de quedar embarazadas, en su mayoría eran solteras, estudiantes y sin planes de embarazo. Once en total usaron algún medicamento y/o sustancias durante la gestación; seis de ellas Misoprostol (40%). Las otras sustancias utilizadas incluyeron: alternativas, cigarrillo, alcohol, ibuprofeno, anticonceptivos, otros. Como anomalías del periodo prenatal se reportaron sangrado activo y/o amenaza de aborto, infección, exposición a químicos ambientales y enfermedad materna activa. Las condiciones paternas descritas fueron alcoholismo y/o drogadicción, enfermedad y edad ≥ 40 años en bajo porcentaje. Conclusión: El síndrome de Möbius y Möbius Like es una patología poco frecuente de la cual aún se debe seguir investigando sobre su etiología, para plantear posibles medidas de prevención.

Mobius Sequence in a Girl and Arthrogryposis in her Half-Brother: Distinct Phenotypes Caused By Prenatal Injuries

Mobius sequence is a congenital facial and abducens nerve palsy, frequently associated to abnormalities of extremities. Arthrogryposis multiplex congenital is defined as a congenital fixation of multiple joints seldom of neurogenic origin. Both sequences must have a genetic origin, but usually are sporadic cases related to environmental factors such as drugs exposition and maternal trauma. A 5-year-old girl and a 1-year-old boy were born with Mobius sequence and arthrogryposis multiplex congenital, respectively. During pregnancies, the mother had vaginal bleeding at 7 weeks and used crack (free-based cocaine) in the first trimester, respectively. The girl also has equinovarus talipes and autistic behavior. The boy has arthrogryposis with flexion contractures of the feet and knees. A vascular disruption, due to hemorrhage and cocaine exposure, causing a transient ischemic insult to embryos in a critical period of development may be responsible for distinct phenotypes in these cases.

Quantitative electroencephalographic comodulation : an investigation of patterns in chronic fatigue syndrome

Introduction. This is a pilot study of quantitative electro-encephalographic (QEEG) comodulation analysis, which is used to assist in identifying regional brain differences in those people suffering from chronic fatigue syndrome (CFS) compared to a normative database. The QEEG comodulation analysis examines spatial-temporal cross-correlation of spectral estimates in the resting dominant frequency band. A pattern shown by Sterman and Kaiser (2001) and referred to as the anterior posterior dissociation (APD) discloses a significant reduction in shared functional modulation between frontal and centro-parietal areas of the cortex. This research attempts to examine whether this pattern is evident in CFS. Method. Eleven adult participants, diagnosed by a physician as having CFS, were involved in QEEG data collection. Nineteen-channel cap recordings were made in five conditions: eyes-closed baseline, eyes-open, reading task one, math computations task two, and a second eyes-closed baseline. Results. Four of the 11 participants showed an anterior posterior dissociation pattern for the eyes-closed resting dominant frequency. However, seven of the 11 participants did not show this pattern. Examination of the mean 8-12 Hz amplitudes across three cortical regions (frontal, central and parietal) indicated a trend of higher overall alpha levels in the parietal region in CFS patients who showed the APD pattern compared to those who did not have this pattern. All patients showing the pattern were free of medication, while 71% of those absent of the pattern were using antidepressant medications. Conclusions. Although the sample is small, it is suggested that this method of evaluating the disorder holds promise. The fact that this pattern was not consistently represented in the CFS sample could be explained by the possibility of subtypes of CFS, or perhaps co-morbid conditions. Further, the use of antidepressant medications may mask the pattern by altering the temporal characteristics of the EEG. The results of this pilot study indicate that further research is warranted to verify that the pattern holds across the wider population of CFS sufferers.

Understanding the literacy difficulties of students with Asperger's syndrome in middle years' classrooms

Among the students in Australian classrooms who are experiencing learning difficulties are increasing numbers of children who have been diagnosed with Asperger's syndrome. Although the general cognitive and language abilities of these students are comparable with most of their peers, they experience significant difficulties with social communication, social interactions and social-emotional/behavioural functioning. Despite indications that there are features inherent in Asperger's syndrome that are likely to have a negative effect on the development of advanced literacy skills, studies to date have primarily focused on social-emotional/behavioural challenges. Without effective literacy skills, however, students' access to educational and career opportunities may be curtailed. This article reviews features of Asperger's syndrome that appear to have a negative impact upon the development of advanced literacy skills and suggests ways in which inclusive classroom teachers could support the development of their learners.

A longitudinal study of motivation and competence in children with Down syndrome : early childhood to early adolescence

Background Motivation has been identified as an area of difficulty for children with Down syndrome. Although individual differences in mastery motivation are presumed to have implications for subsequent competence, few longitudinal studies have addressed the stability of motivation and the predictive validity of early measures for later academic achievement, especially in atypical populations. Method The participants were 25 children with Down syndrome. Mastery motivation, operationalised as persistence, was measured in early childhood and adolescence using tasks and parent report. At the older age, preference for challenge, another aspect of mastery motivation, was also measured and the children completed assessments of academic competence. Results There were significant concurrent correlations among measures of persistence at both ages, and early task persistence was associated with later persistence. Persistence in early childhood was related to academic competence in adolescence, even when the effects of cognitive ability at the younger age were controlled. Conclusions For children with Down syndrome, persistence appears to be an individual characteristic that is relatively stable from early childhood to early adolescence. The finding that early mastery motivation is significant for later achievement has important implications for the focus of early interventions.

Maternal support for autonomy : relationships with persistence for children with Down syndrome and typically developing children

Maternal behaviors and child mastery behaviors were examined in 25 children with Down syndrome and 43 typically developing children matched for mental age (24–36 months). During a shared problem-solving task, there were no group differences in maternal directiveness or support for autonomy, and mothers in the two groups used similar verbal strategies when helping their child. There were also no group differences in child mastery behaviors, measured as persistence with two optimally challenging tasks. However, the two groups differed in the relationships of maternal style with child persistence. Children with Down syndrome whose mothers were more supportive of their autonomy in the shared task displayed greater persistence when working independently on a challenging puzzle, while children of highly directive mothers displayed lower levels of persistence. For typically developing children, persistence was unrelated to maternal style, suggesting that mother behaviors may have different causes or consequences in the two groups.

Metabolic syndrome and serum carotenoids : findings of a cross-sectional study in Queensland, Australia

Several components of the metabolic syndrome, particularly diabetes and cardiovascular disease, are known to be oxidative stress-related conditions and there is research to suggest that antioxidant nutrients may play a protective role in these conditions. Carotenoids are compounds derived primarily from plants and several have been shown to be potent antioxidant nutrients. The aim of this study was to examine the associations between metabolic syndrome status and major serum carotenoids in adult Australians. Data on the presence of the metabolic syndrome, based on International Diabetes Federation 2005 criteria, were collected from 1523 adults aged 25 years and over in six randomly selected urban centers in Queensland, Australia, using a cross-sectional study design. Weight, height, BMI, waist circumference, blood pressure, fasting and 2-hour blood glucose and lipids were determined, as well as five serum carotenoids. Mean serum alpha-carotene, beta-carotene and the sum of the five carotenoid concentrations were significantly lower (p<0.05) in persons with the metabolic syndrome (after adjusting for age, sex, education, BMI status, alcohol intake, smoking, physical activity status and vitamin/mineral use) than persons without the syndrome. Alpha, beta and total carotenoids also decreased significantly (p<0.05) with increased number of components of the metabolic syndrome, after adjusting for these confounders. These differences were significant among former smokers and non-smokers, but not in current smokers. Low concentrations of serum alpha-carotene, beta-carotene and the sum of five carotenoids appear to be associated with metabolic syndrome status. Additional research, particularly longitudinal studies, may help to determine if these associations are causally related to the metabolic syndrome, or are a result of the pathologies of the syndrome.

Comprehensive standardized data definitions for acute coronary syndrome research in emergency departments in Australasia

Patients with chest discomfort or other symptoms suggestive of acute coronary syndrome (ACS) are one of the most common categories seen in many Emergency Departments (EDs). While the recognition of patients at high-risk of ACS has improved steadily, identifying the majority of chest pain presentations who fall into the low-risk group remains a challenge. Research in this area needs to be transparent, robust, applicable to all hospitals from large tertiary centres to rural and remote sites, and to allow direct comparison between different studies with minimum patient spectrum bias. A standardised approach to the research framework using a common language for data definitions must be adopted to achieve this. The aim was to create a common framework for a standardised data definitions set that would allow maximum value when extrapolating research findings both within Australasian ED practice, and across similar populations worldwide. Therefore a comprehensive data definitions set for the investigation of non-traumatic chest pain patients with possible ACS was developed, specifically for use in the ED setting. This standardised data definitions set will facilitate ‘knowledge translation’ by allowing extrapolation of useful findings into the real-life practice of emergency medicine.