Liana Ventura

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review

Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Möbius sequence with misoprostol) and three (most Möbius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology.

Desempenho funcional de crianças com deficiência visual, atendidas no Departamento de Estimulação Visual da Fundação Altino Ventura

OBJETIVO: Tracar o perfil funcional de criancas portadoras de deficiencia visual. METODOS: Foram avaliadas 27 criancas. Dezessete com acuidade visual normal (que frequentavam a Escola Municipal Alto do Maracana, em Recife, e dez portadoras de deficiencia visual (que recebiam estimulacao visual no Departamento de Estimulacao Visual da Fundacao Altino Ventura, Recife). Foi utilizado o teste funcional padrao PEDI. RESULTADOS: As criancas portadoras de deficiencia visual apresentaram desempenho significantemente inferior nas areas de autocuidado e mobilidade que as criancas do grupo controle. CONCLUSAO: A deficiencia visual traz consequencias limitantes para o desempenho de atividades de autocuidado, locomocao, compreensao, comunicacao e tarefas domesticas, na faixa etaria estudada.

Seqüência de Möbius: resultados a longo prazo, da correção cirúrgica do estrabismo

PURPOSE To analyze the long-term results in a consecutive series of Möbius sequence patients, who underwent surgical correction of strabismus. METHODS Ten patients with Möbius sequence fulfilled the inclusion criteria of this study. All patients presented esotropia at the preoperative examination, above or equal to 15 prismatic diopters (DP) varying from 15 to 85. All patients presented lateral rectus muscles severe underaction, six presented hipertropia above or equal 10 DP associated with esodeviation, and five presented anisotropia in A or in V. The patients were operated upon protocol, in a consecutive way, in July 2002. Patients were reexamined periodically, and at 2nd postoperative year as for: the visual acuity; deviation measurements; ocular rotations; cosmetic aspect and socialization. RESULTS The patients presented satisfactory surgical results in eight cases, considering an eso or exodeviation up to 15 DP and a hipertropia lower than 10 DP. Four (40%) patients presented correction of the preoperative anisotropia. Variation of ocular deviation in the primary position (from the 90th day to the 2nd postoperative year was observed) in 9 patients (90%), demonstrating that strabismus surgical stabilization needs time. CONCLUSIONS The surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction, making the social inclusion easier.

Doenças oculares em neonatos

Objetivo: Identificar as principais doencas oculares numa populacao de neonatos assistidos pelo Sistema Unico de Saude em maternidades de referencia no Estado de Pernambuco, orientando o seguimento e tratamento necessario. Metodos: Realizou-se estudo de corte transversal numa populacao de recem-nascidos em tres maternidades publicas, no periodo de abril a outubro de 2000. Procedeu-se ao exame oftalmologico durante visitas semanais, orientando-se o seguimento e tratamento dos casos com alteracoes oculares ou fatores de risco. Resultados: Examinaram-se 3280 recem-nascidos: 1403 (42,8%) na Maternidade da Encruzilhada (CISAM), 1232 (37,5%) na Maternidade do Hospital Barao de Lucena (MHBL) e 645 (19,7%) na Maternidade do Hospital Agamenon Magalhaes (MHAM). 387 eram pre-termo (11,8% dos casos). Encaminharam-se ao servico especializado 701 neonatos (21,4% do total examinado) com alteracoes oculares ou com fatores de risco. Destes, 46,4% eram pre-termo e 37,9% receberam oxigenoterapia, observando-se maior numero porcentual na MHBL (45,4%). Observou-se conjuntivite em 3,0% dos olhos, leucocoria em 0,4% e hemorragia subconjuntival em 2,0%. A fundoscopia, encontraram-se hemorragias retinianas em 7,8% dos casos, com acometimento macular em 4,3%. Conclusoes: As doencas oculares mais frequentes foram: hemorragias retinianas e conjuntivites. Os principais fatores de risco observados foram: prematuridade e doencas infecciosas neonatais. Os autores enfatizam que o exame ocular deve ser realizado rotineiramente nos neonatos.

Achados oftalmológicos em 28 crianças portadoras da seqüência de Möebius

PURPOSE: To evaluate the clinical ophthalmological findings in Moebius sequence patients. Methods: Twenty-eight Moebius sequence patients were studied at three ophthalmological centers in Pernambuco state, Brazil. RESULTS: Bilateral epicanthus was found in 25 patients (89.3%), ptosis in 14 (50.0%), corneal opacities from exposure in 5 (17.8%) and diminished Bells reflex in 3 (10.7%). Monocular visual acuity varied from 0.03 to 1. Visual acuity deficiency was detected in 13 patients (46.4%). The most frequent refractive error was astigmatism. It was observed in 33 eyes (58.9%). At the primary position, 16 patients (57.2%) had esotropia, 2 (7.1%) had exotropia and 7 (25.0%) had orthotropia. Fundoscopic examination was normal in 26 patients (92.8%). CONCLUSIONS: It was observed that Moebius sequence patients presented important ophthalmological disorders, like visual acuity deficiency, incomitant strabismus, exposure keratitis and refractive errors. It is suggested that these patients should be evaluated early by an ophthalmologist for the diagnosis and treatment of these problems.

Catarata na infância: perfil socioeconômico, gestacional e desenvolvimento neuropsicomotor

PURPOSE: To analyze the socioeconomic and gestational profiles, and the neuropsychomotor development of patients with infantile cataract cared for at a medical ophthalmologic center in Pernambuco state, Brazil. METHODS: A standardized questionnaire was applied, in October and November 2003, to the parents of children who underwent child cataract surgery at the Altino Ventura Foundation. RESULTS: Of the 40 patients, 23 were females (57.0%) and 17 males (43.0%). Most of the mothers (65.0%) and fathers (55.0%) of the children informed that they had not finished elementary school. The family income was between 1 and 3 minimum wages in 70.0% of the cases. As for the parental marital status, 40.0% of them were married. Thirty-nine mothers (97.5%) underwent prenatal exams, 37 reported that they had not received rubella immunization (92.5%), and 13 reported rubella during their pregnancy (32.5%). Three mothers reported consanguinity with their husbands and 5 were exposed to medications during pregnancy. Most of the patients had a neuropsychomotor development within limits considered normal by other studies. Fourteen patients (35.0%) were 6 years or older when the interview was performed. Eleven (78.6%) of these children attended school and 45.4% of them had to repeat the school grade. CONCLUSION: It was observed in the studied sample that the patients were characterized by being part of a low-income population. Less than half of the interviewed parents were married and the patients presented low school performance. Insufficiencies in the health system as regards immunization against rubella was identified.