Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family.

BACKGROUND: CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare disease that has been reported in 22 patients so far. In all cases, the mutation c.2452G>A (p.Glu818Lys) in the ATP1A3 gene was identified. Patients typically present at an early age with an acute-onset fever-induced episode of ataxia frequently associated with encephalopathy and weakness. They usually present one to three episodes. The acute symptoms improve within days, but most patients show slow progression afterward. METHODS: We describe three new patients, a woman and her two sons diagnosed with CAPOS syndrome. A systematic review of literature on previously reported patients was performed. RESULTS: The first son presented with acute-onset ataxia, encephalopathy, and sensorineural hearing loss, induced by febrile illness. The second one developed generalized areflexia and mild instability without an acute episode. The mother had been previously diagnosed with sensorineural hearing loss and optic nerve atrophy. The c.2452G>A mutation in ATP1A3 was found in all three patients. CONCLUSION: Only 25 Individuals with CAPOS syndrome have been reported, including our family. This is the first time a Spanish family has been described. The fact that both siblings were assessed before the first acute-onset episode contributes to the description of early symptoms and signs of the disease, which could aid early diagnosis and management before the onset of acute episodes.

Validation of the Maslach Burnout Inventory-General Survey on a Representative Sample of Dominican Teachers: Normative Data.

Burnout is characterized by emotional exhaustion, depersonalization and lack of personal accomplishment (Bakke, Demerouti, & Sanz-Vergel, 2014). Several instruments for its measurement exist, but the most widely used scale for measuring its dimensions, by far, is the Maslach Burnout Inventory (MBI) in its different versions. Among the available versions of the scale, the MBI-General Survey was developed to measure three dimensions of burnout (cynicism, personal accomplishment, and emotional exhaustion) regardless of the type of work. The aim of this research is to offer evidence on the psychometric properties of the MBI-GS for its use in the Dominican Republic and other Caribbean Spanish-speaking countries, using representative sample of Dominican teachers. The factorial validity was studied through confirmatory factor analysis. Several competing models were proved in order to test the dimensionality of the scale. The confirmatory analyses shown that the original three-factor structure had a superior fit, but item eleven was removed in order to get an excellent fit χ2(87) = 211.19, p < .001, CFI = .98, RMSEA = .038 90% CI [.032-.045]. Regarding internal consistency, the CRI´s are well above the cut-off criteria of .7 (CRI's ranged from .74 to .86). Concerning criterion-related validity, the three factors were correlated in the expected direction. Professional efficacy, a dimension of burnout measured in the opposite direction, was positively correlated with the three factors of work engagement, also as expected. This version was found to be a psychometrically sound measure of the three core dimensions of burnout.

Satisfacción Laboral en el Docente Dominicano: Antecedentes Laborales / Job Satisfaction of the Dominican Teacher: Labor Background / Satisfação Profissional no Docente Dominicano: Antecedentes Profissionais

Resumen La satisfacción laboral del colectivo docente ha sido estudiada desde diversas perspectivas, debido a los importantes efectos que esta puede tener tanto a nivel económico como a nivel organizacional. La muestra empleada en este trabajo se compone de 978 docentes dominicanos, y fue obtenida mediante un muestreo estratificado, y, por tanto, representativo de la población. En este estudio se examina un modelo de ecuaciones estructurales en el cual el contexto de trabajo y las condiciones laborales afectan el burnout y el engagement de los profesores. A su vez, se plantea que burnout y engagement afectan la satisfacción laboral docente. El modelo ajustó a los datos: x2(223)= 1089.9, p<.001; CFI=.93; RMSEA=.066; SRMR=.107. Los resultados arrojan luz sobre los factores contextuales del plano educativo que pudieran replantearse en el desarrollo de futuras políticas educativas.

Abstract The job satisfaction of the teachers' collective has been studied from various perspectives due to the significant effect it can have at both the economic and organizational levels. The sample used for this study was made up of 978 Dominican teachers, obtained through stratified sampling so that it would be representative of the population. An analysis of a structural equations model shows that work context and labor conditions affect the burnout and engagement of teachers. The study suggests that both burnout and engagement affect the job satisfaction of teachers. The model fits the data: x2(223)=1089.9, p<.001; CFI=.93; RMSEA=.066; SRMR=.107. The results shed light on the contextual factors of the educational field that could be reformulated in the development of future education policies.

Resumo A satisfação profissional do coletivo docente vem sendo estudada de diversas perspectivas, devido aos importantes efeitos que ela pode ter tanto no âmbito econômico quanto no organizacional. A amostra deste trabalho está composta por 978 docentes dominicanos e foi obtida mediante uma amostragem estratificada, e, portanto, representativa da população. Neste estudo, foi examinado um modelo de equações estruturais em que o contexto de trabalho e as condições de trabalho afetam o burnout e o engagement dos professores. Por sua vez, argumenta-se que burnout e engagement afetam a satisfação profissional docente. O modelo ajusta-se aos dados: x2(223)=1089.9, p<.001; CFI=.93; RMSEA=.066; SRMR=.107. Os resultados esclarecem os fatores contextuais do plano educativo que podem ser repensados no desenvolvimento de futuras políticas educativas.

Hearing loss and enlarged internal auditory canal in children.

INTRODUCTION: Among the temporal bone abnormalities that can be found in the etiological study of paediatric sensorineural hearing loss (SNHL) by imaging techniques, those related to the internal auditory canal (IAC) are the least frequent. The most prevalent of these abnormalities that is associated with SNHL is stenotic IAC due to its association with cochlear nerve deficiencies. Less frequent and less concomitant with SNHL is the finding of an enlarged IAC (>8mm). METHODS: Retrospective and descriptive review of clinical associations, imaging, audiological patterns and treatment of 9 children with hearing loss and enlarged IAC in the period 1999 to 2012. RESULTS: Two groups of patients are described. The first, without association with vestibulocochlear dysplasias, consisted of: 2 patients with SNHL without other temporal bone or systemic abnormalities, one with bilateral mixed HL from chromosome 18q deletion, one with a genetic X-linked DFN3 hearing loss, one with unilateral hearing loss in neurofibromatosis type 2 with bilateral acoustic neuroma, and one with unilateral hearing loss with cochlear nerve deficiency. The second group, with association with vestibulocochlear dysplasias, was comprised of: one patient with moderate bilateral mixed hearing loss in branchio-oto-renal syndrome, one with profound unilateral SNHL with recurrent meningitis, and another with profound bilateral SNHL with congenital hypothyroidism. CONCLUSIONS: The presence of an enlarged IAC in children can be found in different clinical and audiological settings with relevancies that can range from life-threatening situations, such as recurrent meningitis, to isolated hearing loss with no other associations.

[Hearing loss and airway problems in children with mucopolysaccharidoses]. / Hipoacusia y problemas de vía aérea en niños con mucopolisacaridosis.

INTRODUCTION: Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that causes the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area. OBJECTIVE: Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS. METHODS: A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007-2010. RESULTS: Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI. All patients presented chronic middle ear effusions. A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss. The remaining auditory pattern was moderate bilateral conductive hearing loss. Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits. In 2 cases, there was OSAHS relapse. CONCLUSIONS: Children with MPS are at increased risk for developing sensorineural hearing loss. The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery. Such children can also be risk patients in airway management.

[Clinical observations on propranolol use for paediatric airway hemangiomas]. / Observaciones clínicas sobre el uso de propranolol en hemangiomas de vía aérea infantil.

Treatment of subglottic hemangiomas in children has traditionally been characterized as a challenging situation with multiple therapeutic options without consensus as to which one is the best and with risks of severe side effects. Recent reports on the experience of propranolol use in the treatment of paediatric airway hemangiomas suggest favourable reasons for this use due to the rapid improvement and its lack of severe side effects. In this paper we report the experience with 6 children having symptomatic airway hemangiomas treated with propranolol. All children improved their respiratory symptoms dramatically and did not need additional interventions.

[Enlarged vestibular aqueduct syndrome. A review of 55 paediatric patients]. / Hipoacusia en niños con acueducto vestibular dilatado. Estudio de 55 casos.

INTRODUCTION: Enlarged vestibular aqueduct (EVA) is the commonest congenital anomaly found with imaging techniques in paediatric sensorineural hearing loss (SNHL). Our aim was to describe clinical and audiological findings in paediatric hearing loss associated to EVA. METHODS: Retrospective review of 55 children with imaging-technique EVA findings from 2000 to 2009. Subjective and/or objective audiological tests were analysed and audiological findings related to clinical features were described. RESULTS: Thirty-seven patients (67.27%) showed bilateral EVA and 18 (32.72%) were unilateral. Hearing loss was bilateral in 46 (83.63%) patients and unilateral in 9 (16.36%). Mean age at diagnosis was 3.78 years. Fifty-three (96.36%) children showed SNHL (28 bilateral and profound), while 2 (3.63%) patients had mixed hearing loss. There were 3 cases of hearing loss progression, 2 fluctuations, 2 of them were asymmetric and 2 patients suffered from vestibular symptoms. Concomitant image findings were 6 cochlear hypoplasia, 2 enlarged internal auditory canals, 1 enlarged vestibule and 1 hypoplastic lateral semicircular canal. Six clinical syndromes were found (2 cases of Down's, and 1 each of Jacobsen, Pendred, Waardenburg and branchio-oto-renal). One child was positive for GJB2 mutation. Familial hearing loss was demonstrated on 12 (21.8%) cases. CONCLUSION: The clinical picture of hearing loss associated to EVA is characterised by great variability. It should be included in the differential diagnosis of unexplained mixed hearing loss. Familial and syndromic findings have to be taken into consideration in the diagnostic evaluations of such patients. Knowledge about the natural history of this illness is needed so as to give parents prognostic information.