A population-based study of visual impairment among pre-school children in Beijing: the Beijing study of visual impairment in children.

PURPOSE: To evaluate the prevalence and causes of visual impairment among Chinese children aged 3 to 6 years in Beijing. DESIGN: Population-based prevalence survey. METHODS: Presenting and pinhole visual acuity were tested using picture optotypes or, in children with pinhole vision < 6/18, a Snellen tumbling E chart. Comprehensive eye examinations and cycloplegic refraction were carried out for children with pinhole vision < 6/18 in the better-seeing eye. RESULTS: All examinations were completed on 17,699 children aged 3 to 6 years (95.3% of sample). Subjects with bilateral correctable low vision (presenting vision < 6/18 correctable to >or= 6/18) numbered 57 (0.322%; 95% confidence interval [CI], 0.237% to 0.403%), while 14 (0.079%; 95% CI, 0.038% to 0.120%) had bilateral uncorrectable low vision (best-corrected vision of < 6/18 and >or= 3/60), and 5 subjects (0.028%; 95% CI, 0.004% to 0.054%) were bilaterally blind (best-corrected acuity < 3/60). The etiology of 76 cases of visual impairment included: refractive error in 57 children (75%), hereditary factors (microphthalmos, congenital cataract, congenital motor nystagmus, albinism, and optic nerve disease) in 13 children (17.1 %), amblyopia in 3 children (3.95%), and cortical blindness in 1 child (1.3%). The cause of visual impairment could not be established in 2 (2.63%) children. The prevalence of visual impairment did not differ by gender, but correctable low vision was significantly (P < .0001) more common among urban as compared with rural children. CONCLUSION: The leading causes of visual impairment among Chinese preschool-aged children are refractive error and hereditary eye diseases. A higher prevalence of refractive error is already present among urban as compared with rural children in this preschool population.

Deciphering the molecular role of DJ-1 in the etiology of Parkinson’s and Huntingtons’s disease

Tese de doutoramento, Ciências Biomédicas (Neurociências), Universidade de Lisboa, Faculdade de Medicina, 2014

Cerebral Sinovenous Thrombosis in Children: Clinical Presentation and Extension, Localization and Recanalization of Thrombosis

Many important questions regarding pathophysiology and treatment of cerebral sinovenous thrombosis need clarification and may depend on further knowledge on the etiology, site, extension and recanalization of the thrombosis. We studied these variables in a cohort of children and adolescents from seven Portuguese Centers. We conclude from our results that the deep venous system and the superior longitudinal sinus are less frequently affected with thrombosis but have a greater potential for serious neurologic disease and for major sequelae. Non-recanalization, at least in the long term, is not an adverse prognostic factor. Extensive propagation of the thrombus from the initial site of origin seems to be common. The early identification of risk factors and their treatment coupled with an aggressive attitude towards diagnosis and treatment for thrombosis involving the deep venous system would be warranted.

Cold Urticaria and Infectious Mononucleosis in Children

Physical urticaria includes a heterogeneous group of disorders characterized by the development of urticarial lesions and/or angioedema after exposure to certain physical stimuli. The authors present the case of a child with severe acquired cold urticaria secondary to infectious mononucleosis. Avoidance of exposure to cold was recommended; prophylactic treatment with ketotifen and cetirizine was begun and a self-administered epinephrine kit was prescribed. The results of ice cube test and symptoms significantly improved. Physical urticaria, which involves complex pathogenesis, clinical course and therapy, may be potentially life threatening. Evaluation and diagnosis are especially important in children. To our knowledge this is the first description of persistent severe cold-induced urticaria associated with infectious mononucleosis in a child.

Sleep disorders in boys with Duchenne muscular dystrophy.

Aim:  Determine the frequency and predictors of sleep disorders in boys with Duchenne Muscular Dystrophy (DMD). Method:  Cross-sectional study by postal questionnaire. Sleep disturbances were assessed using the Sleep Disturbance Scale for Children (validated on 1157 healthy children). A total sleep score and six sleep disturbance factors representing the most common sleep disorders were computed. Potential associations between pathological scores and personal, medical and environmental factors were assessed. Results:  Sixteen of 63 boys (25.4%) had a pathological total sleep score compared with 3% in the general population. The most prevalent sleep disorders were disorders of initiating and maintaining sleep (DIMS) 29.7%, sleep-related breathing disorders 15.6% and sleep hyperhydrosis 14.3%. On multivariate analysis, pathological total sleep scores were associated with the need to be moved by a carer (OR = 9.4; 95%CI: 2.2-40.7; p = 0.003) and being the child of a single-parent family (OR = 7.2; 95%CI: 1.5-35.1; p = 0.015) and DIMS with the need to be moved by a carer (OR = 18.0; 95%CI: 2.9-110.6; p = 0.002), steroid treatment (OR = 7.7; 95%CI: 1.4-44.0; p = 0.021) and being the child of a single-parent family (OR = 7.0; 95%CI: 1.3-38.4; p = 0.025). Conclusion:  Sleep disturbances are frequent in boys with DMD and are strongly associated with immobility. Sleep should be systematically assessed in DMD to implement appropriate interventions.

Lésions de surcharge chez l'enfant [Overuse injuries in children].

The physical-activity and sporting at the child and the teenager is probably, in these years 2000, in full change. In a paradoxical way, extremely sporting children or teenagers are living beside extremely sedentary school-boys, neglecting the majority of the physical-activities and preferring a home-lifestyle. In the evaluation of overload sporting lesion of at teenager, it is thus imperative to take into account not only the individual characteristics of the child: its sex, its age, its stage of growth, its psychology, the presence or not of preexistent pathologies or anatomical disorders. It is naturally necessary to wonder about the training methods of the activity, but it appears fundamental to me to evaluate the child from a sensitivo-motor point of view and this can be carried out by assessments physio-therapeutic or aptitude tests carried out by doctors of the sport.

Vincristine and intestinal pseudo-obstruction in children: report of 5 cases, literature review, and suggested management.

Summary: Intestinal pseudo-obstruction is a rare complication resulting from a variety of disorders. Symptoms include abdominal pain, nausea, vomiting, diarrhea, constipation, and malnutrition. Vincristine-related pseudo-obstruction has been reported in the literature, but its description in children and recommendations for management are lacking. A review of the literature revealed 21 reported pediatric cases of vincristine-related pseudo-obstruction. Most have, however, been attributed to a drug interaction with itraconazole, accidental vincristine overdose, or liver failure. Potential genetic causes are rarely addressed. We present here 5 cases of pseudo-obstruction related to vincristine without any identifiable predisposing factors, and a suggested algorithm for management

An in-depth analysis of real and perceived barriers to speech and language program participation for children with speech and language delays : a question of barriers to service?

The current study investigated the effects that barriers (both real and perceived) had on participation and completion of speech and language programs for preschool children with communication delays. I compared 36 families of preschool children with an identified communication delay that have completed services (completers) to 13 families that have not completed services (non-completers) prescribed by Speech and Language professionals. Data findings reported were drawn from an interview with the mother, a speech and language assessment of the child, and an extensive package of measures completed by the mother. Children ranged in age from 32 to 71 mos. These data were collected as part of a project funded by the Canadian Language and Literacy Research Networks of Centres of Excellence. Findings suggest that completers and non-completers shared commonalities in a number of parenting characteristics but differed significantly in two areas. Mothers in the noncompleting group were more permissive and had lower maternal education than mothers in the completing families. From a systemic standpoint, families also differed in the number of perceived barriers to treatment experienced during their time with Speech Services Niagara. Mothers in the non-completing group experienced more perceived barriers to treatment than completing mothers. Specifically, these mothers perceived more stressors and obstacles that competed with treatment, perceived more treatment demands and they perceived the relevance of treatment as less important than the completing group. Despite this, the findings suggest that non-completing families were 100% satisfied with services. Contrary to predictions, there were no significant differences in child characterisfics and economic characteristics between completers and non-completers. The findings in this study are considered exploratory and tentative due to the small sample size.

A journey into narrative inquiry : one teacher's lived experience with eating disorders /

In "A Journey Into Narrative Inquiry: One Teacher's Lived Experience With Eating Disorders," an elementary teacher searches for answers regarding how education can help prevent eating disorders by journeying into her own experience of having had such a disorder. This qualitative study is a personal narrative based on an individual's experience, a method appropriate to the sharing of personal voices and stories told in education research. It is an attempt to address the gap found in the research on this topic by offering a subjective and unique perspective of what it is like to live within the nightmare of an eating disorder and by sharing the wisdom gained from having survived such an experience. This narrative inquiry explains how a teacher found herself at a stage where she was willing and ready to share her experience for the sake of research. The story of having had an eating disorder, consisting of both anorexia and bulimia, for over a decade is shared in a genuine, reflective manner. The researcher then shares the analysis of her own story, unpacking the themes of journeying toward voice, self-esteem, self-acceptance, and self and the completion of an M.Ed. degree. Bridges are made which connect these themes to the personal and professional life of the researcher, to the schools in terms of both curriculum and climate, to research directions, and to the larger culture. Suggestions are made for possible changes in educational settings that may help teachers in providing students with some tools and strategies to prevent turning to eating disorders as coping mechanisms. A literature review of eating disorders is included as well, as a guide for others to use when undertaking such qualitative studies.

Role of family eating practices on daily nutrient intakes, dietary patterns and measures of body composition in peri-adolescents

Although family eating practices (FEPs) playa role in the formation of eating practices in children, there is a lack of evidence regarding the role of FEPs on obesity (DB) risk. The purpose of this thesis was to assess the role of child, mother 'and father eating practices (CEPs; MEPS; FaEPs) on nutrient intakes, dietary patterns and body composition. Data were collected on approximately 2,400 peri-adolescents (s250 with complete covariate data). Dietary patterns were assessed using scores that reflected how closely participants followed DASH and Health Canada (HC) recommendations. In girls, poor CEPs, MEPs and FaEPs were associated with increased BMI and risk of overweight and poor dietary patterns according to DASH, and DASH and HC, respectively. In boys, poor CEPs and FaEPs were associated with increased monounsaturated and trans fat, and Vitamin C intakes, respectively. These findings suggest FEPs are associated with DB risk, particularly in girls.

Anxiety in the Primary Classroom: A Handbook for Elementary Educators

This project presents a literature review of pediatric anxiety including the prevalence, etiology, and treatment of anxiety disorders in children, presented along with evidence indicating the short- and long-term effects of anxiety in young children, and the important role of the school in first response regarding the early identification and intervention for these children. A needs assessment was conducted using primary elementary school teachers to identify their level of confidence in their ability to identify and support children suffering with anxiety disorders in their classrooms. Results of the assessment indicated a strong need for a resource that provides both information and support for teachers in their interactions with children with anxiety disorders. The assessment results were used to guide the development of a handbook for elementary educators providing current empirical research detailing information about various forms of anxiety disorders commonly affecting young children in primary grades, as well as a list of available resources, and a series of six sequential lesson plans to be implemented for the entire class. Lesson plans are designed to facilitate increased levels of understanding toward the issues confronted by children suffering from anxiety, and fostering strong peer relations and character-building opportunities. Participants were provided with the handbook for evaluation, which indicated a strong support for the effectiveness and usefulness of the resource.

Prediction of the clinical response to psychostimulant by the basal and reactive salivary cortisol in children with ADHD.

Le trouble du déficit de l’attention/hyperactivité (TDA/H) est un des troubles comportementaux le plus commun chez les enfants. TDAH a une étiologie complexe et des traitements efficaces. Le médicament le plus prescrit est le méthylphénidate, un psychostimulant qui bloque le transporteur de la dopamine et augmente la disponibilité de la dopamine dans la fente synaptique. Des études précliniques et cliniques suggèrent que le cortisol peut potentialiser les effets de la dopamine. Un dysfonctionnement du système hypothalamo-hypophyso-surrénalien (HHS) est associé avec plusieurs maladies psychiatriques comme la dépression, le trouble bipolaire, et l’anxiété. Nous avons fait l’hypothèse que le cortisol influence l’efficacité du traitement des symptômes du TDAH par le méthylphénidate. L’objectif de cette étude est de mesurer les niveaux de cortisol le matin au réveil et en réponse à une prise de sang dans un échantillon d’enfants diagnostiqué avec TDAH âgé de 8 ans. Le groupe était randomisé dans un protocole en chassé croisé et en double aveugle avec trois doses de méthylphénidate et un placebo pour une période de quatre semaines. Les enseignants et les parents ont répondu aux questionnaires SWAN et à une échelle d’évaluation des effets secondaires. Les résultats ont démontrés qu’un niveau de cortisol élevé au réveil prédit les sujets qui ne répondent pas au traitement du TDAH, si on se fie aux rapports des parents. En plus, la réactivité au stress élevé suggère un bénéfice additionnel d’une dose élevée de méthylphénidate selon les enseignants. Aussi, les parents rapportent une association entre la présence de troubles anxieux co-morbide avec le TDAH et une meilleure réponse à une dose élevée. Cette étude suggère qu’une forte réactivité de l’axe HHS améliore la réponse clinique à des doses élevées, mais qu’une élévation chronique du niveau de cortisol pourrait être un marqueur pour les non répondeurs. Les résultats de cette étude doivent être considérés comme préliminaires et nécessitent des tests plus approfondis des interactions possibles entre les médicaments utilisés pour traiter le TDAH et l’axe HHS.

Longitudinal evaluation of sleep-related breathing disorders in an orthodontic population

Introduction: Les troubles respiratoires du sommeil (TRS), qui représentent une préoccupation croissante pour la santé, ont des effets significatifs sur la santé, le comportement et la performance académique chez l’enfant. Les malformations craniofaciales, l’hypertrophie adéno-amygdalienne et l'obésité, représentent des facteurs de risque importants dans le développement de cette condition. Les symptômes des TRS ont été étudiés dans une étude prospective chez les enfants et adolescents durant leur traitement orthodontique dans un milieu universitaire. Cette étude a cherché à décrire la prévalence et les facteurs de risque principaux des TRS, ainsi que l'impact des différentes interventions orthodontiques sur les symptômes TRS. Matériel et méthodes: dans une étude cohorte prospective, un groupe de 168 sujets âgés de 12 à 21 ans ont été soumis, quatre ans après la prise de données initiale, à un examen craniofacial en plus d'être administré des questionnaires qui ont recueilli des données sur la situation socio-démographique, le bruxisme et les troubles d’ATM, le sommeil et le comportement diurne, et les facteurs neuropsychologiques. Résultats: l'indice de masse corporelle a été augmenté mais est demeurée dans la même catégorie aux deux moments de l'enquête. Il ya eu une augmentation du serrement des dents et des symptômes de l'ATM, une diminution de la taille des amygdales, et une augmentation de la somnolence diurne. La prévalence des TRS n'a pas changé entre l’étude initiale et l’étude de suivi. Aucune intervention orthodontique s'est avérée avoir un effet cliniquement significatif sur les voies aériennes supérieures. Conclusions: la prévalence des symptômes TRS était constante par rapport aux valeurs de base pour la population étudiée, mais a augmenté si rapportée à la population générale. Les traitements orthodontiques ne montrent aucun effet sur les TRS. Mots-clés : apnée du sommeil, craniofacial, prévalence, ronflement, traitement orthodontique, voies aériennes supérieures

Rhythmic Masticatory Muscle Activity during Sleep: Etiology and Clinical Perspectives

L’activité rythmique des muscles masticateurs (ARMM) pendant le sommeil se retrouve chez environ 60% de la population générale adulte. L'étiologie de ce mouvement n'est pas encore complètement élucidée. Il est cependant démontré que l’augmentation de la fréquence des ARMM peut avoir des conséquences négatives sur le système masticatoire. Dans ce cas, l'ARMM est considérée en tant que manifestation d'un trouble moteur du sommeil connue sous le nom de bruxisme. Selon la Classification Internationale des Troubles du Sommeil, le bruxisme est décrit comme le serrement et grincement des dents pendant le sommeil. La survenue des épisodes d’ARMM est associée à une augmentation du tonus du système nerveux sympathique, du rythme cardiaque, de la pression artérielle et elle est souvent en association avec une amplitude respiratoire accrue. Tous ces événements peuvent être décrits dans le contexte d’un micro-éveil du sommeil. Cette thèse comprend quatre articles de recherche visant à étudier i) l'étiologie de l’ARMM pendant le sommeil en relation aux micro-éveils, et à évaluer ii) les aspects cliniques du bruxisme du sommeil, du point de vue diagnostique et thérapeutique. Pour approfondir l'étiologie de l’ARMM et son association avec la fluctuation des micro-éveils, nous avons analysé le patron cyclique alternant (ou cyclic alternating pattern (CAP) en anglais), qui est une méthode d’analyse qui permet d’évaluer l'instabilité du sommeil et de décrire la puissance des micro-éveils. Le CAP a été étudié chez des sujets bruxeurs et des sujets contrôles qui ont participé à deux protocoles expérimentaux, dans lesquels la structure et la stabilité du sommeil ont été modifiées par l'administration d'un médicament (la clonidine), ou avec l'application de stimulations sensorielles (de type vibratoire/auditif) pendant le sommeil. Dans ces deux conditions expérimentales caractérisées par une instabilité accrue du sommeil, nous étions en mesure de démontrer que les micro-éveils ne sont pas la cause ou le déclencheur de l’ARMM, mais ils représentent plutôt la «fenêtre permissive» qui facilite l'apparition de ces mouvements rythmiques au cours du sommeil. Pour évaluer la pertinence clinique du bruxisme, la prévalence et les facteurs de risque, nous avons effectué une étude épidémiologique dans une population pédiatrique (7-17 ans) qui était vue en consultation en orthodontie. Nous avons constaté que le bruxisme est un trouble du sommeil très fréquent chez les enfants (avec une prévalence de 15%), et il est un facteur de risque pour l'usure des dents (risque relatif rapproché, RRR 8,8), la fatigue des muscles masticateurs (RRR 10,5), les maux de tête fréquents (RRR 4,3), la respiration bruyante pendant le sommeil (RRR 3,1), et divers symptômes liés au sommeil, tels que la somnolence diurne (RRR 7,4). Ces résultats nous ont amenés à développer une étude expérimentale pour évaluer l'efficacité d'un appareil d'avancement mandibulaire (AAM) chez un groupe d'adolescents qui présentaient à la fois du bruxisme, du ronflement et des maux de tête fréquents. L'hypothèse est que dans la pathogenèse de ces comorbidités, il y a un mécanisme commun, probablement lié à la respiration pendant le sommeil, et que l'utilisation d'un AAM peut donc agir sur plusieurs aspects liés. À court terme, le traitement avec un AAM semble diminuer l'ARMM (jusqu'à 60% de diminution), et améliorer le ronflement et les maux de tête chez les adolescents. Cependant, le mécanisme d'action exact des AAM demeure incertain; leur efficacité peut être liée à l'amélioration de la respiration pendant le sommeil, mais aussi à l'influence que ces appareils pourraient avoir sur le système masticatoire. Les interactions entre le bruxisme du sommeil, la respiration et les maux de tête, ainsi que l'efficacité et la sécurité à long terme des AAM chez les adolescents, nécessitent des études plus approfondies.

Argument omissions in preschool Catalan and Spanish speaking children with SLI

El presente artículo describe tres estudios sobre la producción del verbo y la estructura argumental en niños con Trastorno Específico del Lenguaje (TEL) usando diferentes metodologías. El primero es un estudio observacional que usa una muestra de habla espontánea. El segundo usa una tarea experimental de denominación de oraciones como resultado de la observación de videos de acciones. El tercero comprende la tarea de denominación de oraciones con imágenes estáticas en eventos con diferente complejidad argumental. Aunque los datos concretos varían en función de la metodología usada, hay una clara evidencia de que los niños de habla catalana y española con TEL presentan especiales dificultades en la producción de verbos con una alta complejidad en relación a la estructura argumental y cometen errores en la especificación de los argumentos obligatorios. Se concluye que tanto limitaciones en el procesamiento como déficits en la representación semántica de los verbos pueden estar implicados en estas dificultades