ABSTRACT
O objetivo desta pesquisa foi identificar o conhecimento do Transtorno do Espectro Autístico (TEA) por professores de Educação Infantil, traçar o perfil destes profissionais e se sentem-se preparados para trabalhar com alunos com TEA. Pontuar aspectos importantes no preparo para o trabalho, eixos relevantes para estes professores no trabalho com esses alunos, dificuldades encontradas pelos docentes. Foram convidados a participar desta pesquisa 300 professores da rede municipal de Paulínia, SP. Noventa e oito professores participaram por meio de questionário específico, que evidenciou que os professores mostraram ter conhecimento das principais características do quadro. Os aspectos apontados como necessários para o trabalho com TEA foram: cursos de especialização e apoio pedagógico. Eixos que professores consideram ser importantes serem trabalhados com estes alunos: comunicação, autonomia e comportamento. Aspectos que os professores encontram maior dificuldade de atuação são: comunicação e comportamento. Com o estudo foi possível evidenciar que quase todos os professores entrevistados não se sentiam preparados para trabalhar com alunos com TEA, o nível de formação não influenciou na avaliação de aspectos que consideram importantes no trabalho com estes alunos.
The goal of this research was to identify the knowledge of Autism Spectrum Disorder (ASD) by teachers of early childhood, to trace the profile of these professionals and measure if they feel prepared to work with students with ASD. Punctuate important aspects in the preparation for work, relevant axes for these teachers in the work with these students, and difficulties encountered by the teachers. There were 300 teachers invited to participate in this study from the municipal network of Paulínia, State of São Paulo, and 98 teachers participated answering a specific questionnaire that measures their knowledge of the main features of ADS. The aspects pointed out as necessary for the work with ADS were: specialization courses and pedagogical support. Axes that teachers consider important to work with these students are communication, autonomy, and behavior. Aspects that teachers find greater difficulty to work with are communication and behavior. With the study, it was possible to show that, almost all teachers interviewed did not feel prepared to work with students with ASD, the level of graduation did not influence the evaluation of aspects that they consider important in the work with these students.
ABSTRACT
Avaliar preditores de risco pré, peri e pós-natais para a Deficiência Intelectual (DI). Foi realizada uma pesquisa documental retrospectiva de 2014 a 2015 dos preditores de risco pré, peri e pós-natais em 70 prontuários de pacientes de 8 a 19 anos diagnosticados com DI em duas escolas de educação especial no Estado de São Paulo. Os resultados foram significativos para os preditores de risco pré (antecedentes familiais e genéticos, idade materna avançada e uso de drogas e álcool) e pós-natais (lesão cerebral traumática, baixo peso ao nascer e crises neonatais). Já os fatores perinatais (prematuridade, lesão e distúrbios neonatais) foram expressivos inversamente proporcionais ao diagnóstico de DI. Preditores de risco pré e pós-natais apresentaram grande impacto no diagnóstico de DI na presente amostra.
To evaluate predictors risk pre, peri and post-natal care for Intellectual Disability (ID). This study was a retrospective documentary research from 2014 to 2015 of predictors risk pre, peri and post-natal through 70 records of diagnosed patients with ID from 8-19 years into two special education schools at São Paulo State - Brazil. The results were significant for the pre-predictors risk (familial and genetic background, advanced maternal age and use of drugs and alcohol) and postnatal predictors risk (traumatic brain injury, low birth weight and neonatal seizures). Already perinatal predictors risk was inversely proportional to the significant diagnostic ID. Predictors risk pre- and postnatal have major impact on the diagnosis of ID.
ABSTRACT
OBJECTIVES: We studied the neuroimaging and neurophysiological aspects of 17 patients with midline facial defects with ocular hypertelorism (MFDH). METHODS: The investigation protocol included a previous semistructured questionnaire about family history; gestational, neonatal, and postnatal development; and dysmorphologic and neurologic evaluation. Recognized monogenic disorders and individuals with other well-known conditions were excluded. All patients had high resolution magnetic resonance imaging (MRI) with multiplanar reconstruction (MPR) and routine electroencephalograms (EEGs). RESULTS: We detected abnormalities in five patients whose MRIs had been previously reported as normal. MRI showed central nervous system (CNS) structural abnormalities in all patients, which included commissural alterations in 16/17 (94%), malformations of cortical development in 10/17 (58%), disturbances of neural tube closure in 7/17 (42%), and posterior fossa anomalies in 6/17 (35%). Some patients had more than one type of malformation occurring at different stages of the embryonary process. EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. CONCLUSION: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. Therefore, the CNS anomalies cannot be considered incidental findings but an intrinsic part of this condition, which could be related to environmental effects and/or genetic mutations. These findings would provide a basis for future investigations on MFDH and should also be considered when planning rehabilitation.
Subject(s)
Face/abnormalities , Hypertelorism/pathology , Magnetic Resonance Imaging , Malformations of Cortical Development/diagnosis , Abnormalities, Multiple , Adolescent , Adult , Child , Child, Preschool , Electroencephalography , Female , Humans , Infant , Male , Risk Factors , Surveys and QuestionnairesABSTRACT
We report on a child with midline facial defects with hypertelorism (MFDH), median cleft lip, sphenoidal ventriculocele, partial agenesis of the corpus callosum, and low-grade astrocytoma in the cervicomedullary junction. This combination of findings has not been reported previously. Although this association might be casual, it demonstrates a relationship between disorders of frontonasal process and posterior fossae. It also suggests that individuals with MFDH might require a prospective follow-up with central nervous system magnetic resonance imaging.
Subject(s)
Astrocytoma/complications , Brain Neoplasms/complications , Craniofacial Abnormalities/complications , Hypertelorism/complications , Agenesis of Corpus Callosum , Child, Preschool , Cleft Lip/complications , Encephalocele/complications , Follow-Up Studies , Humans , Magnetic Resonance Imaging , Male , Nose/abnormalities , Sphenoid Sinus/pathologyABSTRACT
OBJECTIVE: Twenty-four patients were evaluated to better characterize neurological and neuroradiological aspects of midline facial defects with ocular hypertelorism. METHODS: After a clinical genetics evaluation, the individuals were divided into two groups: 12 isolated cases (group 1) and 12 associated with multiple congenital anomalies (group 2). The investigation protocol included medical and family history, as well as dysmorphological, neurological, and neuroradiological evaluations by magnetic resonance imaging or computed tomography scan. RESULTS: Because there was no significant difference concerning the neurological aspects of groups 1 and 2, they were analyzed together. Mild hypotonia (24 of 24), abnormalities in cranial shape (24 of 24), cranial nerves (19 of 24), motor coordination (18 of 24), dynamic equilibrium (14 of 24), and language problems (8 of 24) were noted. Measurements of the posterior fossa showed hypoplastic cerebellar vermis (8 of 17), the cerebellum at lower normality limits (5 of 17), and signs of cerebellar hypoplasia (3 of 7). CONCLUSION: This study clearly demonstrates the presence of structural and functional neurological abnormalities related to midline facial defects with ocular hypertelorism, as well as involvement of the cerebellum. It provides a basis for future investigation of midline facial defects with ocular hypertelorism and should be considered during planning of rehabilitation treatment.
Subject(s)
Cerebellar Diseases/complications , Cerebellum/abnormalities , Craniofacial Abnormalities/complications , Adolescent , Adult , Cerebellar Diseases/diagnosis , Child , Child, Preschool , Female , Frontal Bone/abnormalities , Humans , Hypertelorism/complications , Magnetic Resonance Imaging , Male , Movement Disorders/etiology , Neurologic Examination , Nose/abnormalities , Syndrome , Tomography, X-Ray ComputedABSTRACT
Foram estudados 31 indivíduos com anomalias crânio faciais utilizando protocolo previamente definido, composto por avaliação clínica, citogenética, avaliação morfológica (ressonância magnética [RM] com reformatação multiplanar [MPR]) e investigação funcional (Eletroencefalografia [EEG] e/ou Tomografia por emissão de fóton único [SPECT]). Destes, 17 apresentavam defeitos de linha média facial com hipertelorismo (DLMFH), 10, síndrome de Saethre-Chotzen (SCS) e 4, síndrome blefaroqueilodôntica (BCD). Nos indivíduos com DLMFH foi observado, na avaliação neurológica, anormalidades na forma craniana (17/17), hipotonia (16/17), distúrbios de coordenação motora (10/17) e alteração no equilíbrio (6/17). A RM evidenciou anormalidades em todos os casos que incluíram alterações comissurais (16/17), malformações de desenvolvimento cortical (10/17), alterações no fechamento de tubo de neural (7/17), e anormalidades de fossa posterior (6/17). O EEG mostrou distúrbio epileptiforme em 6/17 e anormalidades de fundo em 5/17 pacientes. O SPECT evidenciou hipoperfusão em cerebelo (8/11) e ponte (8/11), o que explicaria as alterações observadas no exame neurológico. Na SCS a avaliação neurológica mostrou braquicefalia (10/10), hipotonia muscular (6/10) hipomimia (3/10) e descoordenação motora (2/10). A avaliação neurorradiológica (RM com MPR) mostrou alterações no crânio (10/10), anomalias comissurais (6/10), perturbações de fechamento de tubo de neural (4/10), malformações de desenvolvimento cortical (4/10), alterações na fossa posterior (3/10). Na BCD, foi observada...
31 individuals were studied with different cranium-facial anomalies using a previously defined protocol, composed by clinical and cytogenetics evaluation, morphological evaluation (magnetic resonance image [MRI] with multiplanar reformatting [MPR]) and of functional investigation (Electroencephalogram [EEG] and/or single-photon emission computed tomographic imaging [SPECT]). Seventeen presented Midline facial defects with ocular hypertelorism (MFDH), 10 with Saethre-Chotzen Syndrome (SCS) and 4 with Blefarocheilodontic Syndrome (BCD). In MFDH individuals, it was observed in neurological evaluation, abnormalities in cranial shape (17/17), motor coordination (10/17) and equilibrium (6/17). MRI showed central nervous system (CNS) abnormalities in all cases, which included commissural alterations (16/17), malformations of cortical development (10/17), disturbances of neural tube closure (7/17) and posterior fossa abnormalities (6/17). EEGs showed epileptiform abnormalities in 6/17 and background abnormalities in 5/17 patients. The SPECT evidenced cerebellar (8/11) and pons (8/11) hipoperfusion, what would explain the alterations observed in the neurological evaluation. In SCS cases, neurological evaluation showed brachycephaly (10/10), hypotonia (6/10) frontal hypomimia (3/10) and motor incoordination (2/10). Neuroradiologic exams (MRI with MPR) showed skull alterations (10/10), comissural anomalies (6/10), disturbances of neural tube closure (4/10), malformations of cortical development (4/10), alterations of posterior fossa (3/10). In BCD, passive hypotonia was detected in all cases, at neurological evaluation. MRI showed thin posterior hippocampal portion in one case and vascular and gyri malformatios in frontal lobe in another case. The SPECT...
Subject(s)
Humans , Craniofacial Abnormalities/complications , Bone Diseases, Developmental , Central Nervous System , Developmental Disabilities/diagnosis , Frontal Bone/abnormalities , Craniosynostoses , Hypertelorism , Magnetic Resonance SpectroscopyABSTRACT
Considering the rarity of the frontonasal dysplasia (FD) and the few reports about it in a large casuistry using magnetic resonance image (MRI), we describe the results of the angular analysis of the corpus callosum of 18 individuals with FD (7 male, 11 female), using an easily-reproductive method. Group I had 12 individuals with isolated form and Group II had 6 individuals with FD syndromic with unknown etiology. The results are presented in set. Comparing with the control group, patients with FD presented alpha angle increase and beta and gamma angles reduction (p<0.05). Alpha and gamma angles express the relationship between the anterior portion of corpus callosum and the floor of 4th ventricle. Considering the embryonary development, these findings would occur secondarily to failure during the development of nasal capsula. Thus, angular anomaly in corpus callosum would be a usual finding, and not fortuitous in patients with FD.
Subject(s)
Abnormalities, Multiple , Agenesis of Corpus Callosum , Cephalometry , Craniofacial Abnormalities/diagnosis , Frontal Bone/abnormalities , Nasal Bone/abnormalities , Age Factors , Case-Control Studies , Female , Humans , Hypertelorism/diagnosis , Magnetic Resonance Imaging , Male , Reproducibility of Results , Sex FactorsABSTRACT
Considerando a raridade da displasia frontonasal (DF) e os poucos estudos sobre esta condição clínica usando ressonância magnética (RM), descrevemos os resultados da análise angular do corpo caloso em 18 indivíduos com DF (7 homens, 11 mulheres), usando um método de fácil reprodução. O Grupo I foi formado por 12 indivíduos com DF isolada e o Grupo II, por 6 portadores de DF sindrômica de etiologia desconhecida. Não houve diferença entre os grupos, e os dados são apresentados em conjunto. Comparando com o grupo controle, houve aumento significativo do ângulo alfa e redução dos ângulos beta e gama (p<0,05) Os ângulos alfa e gama expressam a relação entre a porção anterior do corpo caloso e do piso do 4º ventrículo. Esses achados radiológicos poderiam ocorrer secundariamente à falência do desenvolvimento da cápsula nasal. Assim, as anomalias angulares no corpo caloso poderiam ser um achado usual, e não fortuito, na DF.
Subject(s)
Female , Humans , Male , Abnormalities, Multiple , Cephalometry , Corpus Callosum/abnormalities , Craniofacial Abnormalities/diagnosis , Frontal Bone/abnormalities , Nasal Bone/abnormalities , Age Factors , Case-Control Studies , Hypertelorism/diagnosis , Magnetic Resonance Imaging , Reproducibility of Results , Sex FactorsABSTRACT
We describe a 15-month-old girl born to a normal family and with non-consanguineous parents presenting with an unusual pattern of multiple congenital anomalies, including frontonasal dysplasia, neuronal migration error, lymphoedema of upper and lower limbs, and mild neuropsychomotor delay. Frontal and nasal haemangiomas, optic disc anomalies and hearing loss were also observed. This seems to be a previously undescribed syndrome of unknown aetiology.
