Effects of storage time on DNA profiling success from archived latent fingerprint samples using an optimised workflow.

Due to recent improvements in forensic DNA testing kit sensitivity, there has been an increased demand in the criminal justice community to revisit past convictions or cold cases. Some of these cases have little biological evidence other than touch DNA in the form of archived latent fingerprint lift cards. In this study, a previously developed optimised workflow for this sample type was tested on aged fingerprints to determine if improved short tandem repeat (STR) profiles could be obtained. Two-year-old samples processed with the optimised workflow produced an average of approximately five more STR alleles per profile over the traditional method. The optimised workflow also produced detectable alleles in samples aged out to 28 years. Of the methods tested, the optimised workflow resulted in the most informative profiles from evidence samples more representative of the forensic need. This workflow is recommended for use with archived latent fingerprint samples, regardless of the archival time.Key pointsThe use of the optimised workflow on aged archived latent fingerprint (ALFP) lift card samples (aged 2-28 years) improves the number of STR alleles recovered, providing more discriminatory STR profiles than those processed using the traditional workflow.Interpretable STR alleles can be detected from ALFP lift card samples stored as long as 28 years when the optimised procedures are followed.The use of individual laboratory-sterilised tools for sample preparation and the addition of a re-purification step with Centri-Sep columns in the recommended optimised workflow seem to limit the ability to detect low-level secondary DNA sources.

Strengthening retinopathy of prematurity screening and treatment services in Nigeria: a case study of activities, challenges and outcomes 2017-2020.

OBJECTIVES: Retinopathy of prematurity (ROP) will become a major cause of blindness in Nigerian children unless screening and treatment services expand. This article aims to describe the collaborative activities undertaken to improve services for ROP between 2017 and 2020 as well as the outcome of these activities in Nigeria. DESIGN: Descriptive case study. SETTING: Neonatal intensive care units in Nigeria. PARTICIPANTS: Staff providing services for ROP, and 723 preterm infants screened for ROP who fulfilled screening criteria (gestational age <34 weeks or birth weight ≤2000 g, or sickness criteria). METHODS AND ANALYSIS: A WhatsApp group was initiated for Nigerian ophthalmologists and neonatologists in 2018. Members participated in a range of capacity-building, national and international collaborative activities between 2017 and 2018. A national protocol for ROP was developed for Nigeria and adopted in 2018; 1 year screening outcome data were collected and analysed. In 2019, an esurvey was used to collect service data from WhatsApp group members for 2017-2018 and to assess challenges in service provision. RESULTS: In 2017 only six of the 84 public neonatal units in Nigeria provided ROP services; this number had increased to 20 by 2018. Of the 723 babies screened in 10 units over a year, 127 (17.6%) developed any ROP; and 29 (22.8%) developed type 1 ROP. Only 13 (44.8%) babies were treated, most by intravitreal bevacizumab. The screening criteria were revised in 2020. Challenges included lack of equipment to regulate oxygen and to document and treat ROP, and lack of data systems. CONCLUSION: ROP screening coverage and quality improved after national and international collaborative efforts. To scale up and improve services, equipment for neonatal care and ROP treatment is urgently needed, as well as systems to monitor data. Ongoing advocacy is also essential.

DNA Purification Cell Lysis and Wash Step Modifications for Low-Template DNA Sample Processing.

As DNA technology becomes increasingly sensitive, forensic laboratories are receiving more low-template DNA samples. These samples, already low in DNA content, become even more challenging to process as the available DNA becomes further reduced during the extraction step. In this study, two extraction modifications were tested to determine if the cause of DNA loss could be identified and mitigated. A double lysis technique was used to test for DNA loss in the sample collection substrate, and lysate eluates were re-extracted to determine DNA loss from inefficient binding to the silica column. Both modifications showed DNA was lost at these steps. However, resulting STR profiles from these samples had fewer peaks and lower peak heights when compared to samples processed with no extraction modifications. Overall, the potential benefits of adding these extraction modifications for low-template DNA sample processing are not enough to justify the risk associated with additional manipulation.

Visual impairment evaluation in 119 children with congenital Zika syndrome.

PURPOSE: To assess visual impairment in a large sample of infants with congenital Zika syndrome (CZS) and to compare with a control group using the same assessment protocol. METHODS: The study group was composed of infants with confirmed diagnosis of CZS. Controls were healthy infants matched for age, sex, and socioeconomic status. All infants underwent comprehensive ophthalmologic evaluation including visual acuity, visual function assessment, and visual developmental milestones. RESULTS: The CZS group included 119 infants; the control group, 85 infants. At examination, the mean age of the CZS group was 8.5 ± 1.2 months (range, 6-13 months); of the controls, 8.4 ± 1.8 months (range, 5-12 months; P = 0.598). Binocular Teller Acuity Card (TAC) testing was abnormal in 107 CZS infants and in 4 controls (89.9% versus 5% [P < 0.001]). In the study group, abnormal monocular TAC results were more frequent in eyes with funduscopic alterations (P = 0.008); however, 104 of 123 structurally normal eyes (84.6%) also presented abnormal TAC results. Binocular contrast sensitivity was reduced in 87 of 107 CZS infants and in 8 of 80 controls (81.3% versus 10% [P < 0.001]). The visual development milestones were less achieved by infants with CZS compared to controls (P < 0.001). CONCLUSIONS: Infants with CZS present with severe visual impairment. A protocol for assessment of the ocular findings, visual acuity, and visual developmental milestones tested against age-matched controls is suggested.

An Optimized DNA Analysis Workflow for the Sampling, Extraction, and Concentration of DNA obtained from Archived Latent Fingerprints.

DNA profiles have been obtained from fingerprints, but there is limited knowledge regarding DNA analysis from archived latent fingerprints-touch DNA "sandwiched" between adhesive and paper. Thus, this study sought to comparatively analyze a variety of collection and analytical methods in an effort to seek an optimized workflow for this specific sample type. Untreated and treated archived latent fingerprints were utilized to compare different biological sampling techniques, swab diluents, DNA extraction systems, DNA concentration practices, and post-amplification purification methods. Archived latent fingerprints disassembled and sampled via direct cutting, followed by DNA extracted using the QIAamp® DNA Investigator Kit, and concentration with Centri-Sep™ columns increased the odds of obtaining an STR profile. Using the recommended DNA workflow, 9 of the 10 samples provided STR profiles, which included 7-100% of the expected STR alleles and two full profiles. Thus, with carefully selected procedures, archived latent fingerprints can be a viable DNA source for criminal investigations including cold/postconviction cases.

Visual impairment in children with congenital Zika syndrome.

PURPOSE: To describe the visual impairment associated with ocular and neurological abnormalities in a cohort of children with congenital Zika syndrome (CZS). METHODS: This cross-sectional study included infants with microcephaly born in Pernambuco, Brazil, from May to December 2015. Immunoglobulin M antibody capture enzyme-linked immunosorbent assay for the Zika virus on the cerebrospinal fluid samples was positive for all infants. Clinical evaluation consisted of comprehensive ophthalmologic examination including visual acuity, visual function assessment, visual developmental milestone, neurologic examination, and neuroimaging. RESULTS: A total of 32 infants (18 males [56%]) were included. Mean age at examination was 5.7 ± 0.9 months (range, 4-7 months). Visual function and visual developmental milestone could not be tested in 1 child (3%). Visual impairment was detected in 32 infants (100%). Retinal and/or optic nerve findings were observed in 14 patients (44%). There was no statistical difference between the patients with ocular findings and those without (P = 0.180). All patients (100%) demonstrated neurological and neuroimaging abnormalities; 3 (9%) presented with late-onset of microcephaly. CONCLUSIONS: Children with CZS demonstrated visual impairment regardless of retina and/or optic nerve abnormalities. This finding suggests that cortical/cerebral visual impairment may be the most common cause of blindness identified in children with CZS.

Retinopathy of prematurity and neurodevelopmental disabilities in premature infants.

Prematurity is a major global health issue leading to high mortality and morbidity among the survivors. Neurodevelopmental disability (NDD) and retinopathy of prematurity (ROP) are the most common complications of prematurity. In fact, ROP is the second leading cause of childhood blindness in the world. Although there is much information regarding the occurrence of ROP and of NDD in premature infants, there have been few studies on ROP and its association with NDD. The objectives of this article are to review the current literature on the subject and to publish our own findings concerning the association between ROP and NDD in premature infants. The review suggests that although NDDs are related to degree of prematurity, NDD could also be the result of visual impairments resulting from ROP. Our own study shows a close association between NDD and zonal involvement of ROP: higher NDD if zone 1 is involved and less if zone 3 is involved.

Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence.

Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocular congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society. This cross-section comprised 41 patients (age, mean ± standard deviation, 9.0 ± 5.5 years) who fulfilled the inclusion criteria. The parent or caregiver answered a questionnaire regarding sociodemographic data and pregnancy history. Patients underwent ophthalmological assessments. They were subdivided into groups according to misoprostol exposure during pregnancy, and the two groups were compared. Results: Mothers/caregivers reported unplanned pregnancies in 36 (88%) cases. Of these, 19 (53%) used misoprostol during their first trimesters. A stable marital status tended to be more frequent in the unexposed group (P=0.051). Incomplete elementary school education was reported by two (11%) mothers in the exposed group and by three (14%) mothers in the unexposed group (P=0.538). The mothers' gestational exposures to cocaine, marijuana, alcohol, and cigarettes were similar in both groups (P=0.297, P=0.297, P=0.428, and P=0.444, respectively). One (5%) case of Rubella infection during pregnancy was found in the unexposed group. The main malformations in the exposed and unexposed groups were the following: strabismus (72% and 77%, respectively), lack of emotional tearing (47% and 36%, respectively), and lagophthalmos (32% and 41%, respectively). Conclusion: Stable marital statuses tended to be more frequent among mothers that did not take misoprostol during pregnancy. Exposures to other teratogens and the main ocular abnormalities were similar in both groups.

Teratogen exposure and congenital ocular abnormalities in Brazilian patients with Möbius sequence / Exposição à teratógenos e anormalidades oculares congênitas em pacientes brasileiros portadores da sequência de Möbius

Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocular congenital abnormalities in Brazilian patients with Möbius sequence. Method: Forty-four patients were recruited from the Brazilian Möbius Sequence Society. This cross-section comprised 41 patients (age, mean ± standard deviation, 9.0 ± 5.5 years) who fulfilled the inclusion criteria. The parent or caregiver answered a questionnaire regarding sociodemographic data and pregnancy history. Patients underwent ophthalmological assessments. They were subdivided into groups according to misoprostol exposure during pregnancy, and the two groups were compared. Results: Mothers/caregivers reported unplanned pregnancies in 36 (88%) cases. Of these, 19 (53%) used misoprostol during their first trimesters. A stable marital status tended to be more frequent in the unexposed group (P=0.051). Incomplete elementary school education was reported by two (11%) mothers in the exposed group and by three (14%) mothers in the unexposed group (P=0.538). The mothers' gestational exposures to cocaine, marijuana, alcohol, and cigarettes were similar in both groups (P=0.297, P=0.297, P=0.428, and P=0.444, respectively). One (5%) case of Rubella infection during pregnancy was found in the unexposed group. The main malformations in the exposed and unexposed groups were the following: strabismus (72% and 77%, respectively), lack of emotional tearing (47% and 36%, respectively), and lagophthalmos (32% and 41%, respectively). Conclusion: Stable marital statuses tended to be more frequent among mothers that did not take misoprostol during pregnancy. Exposures to other teratogens and the main ocular abnormalities were similar in both groups. .

Objetivo: Descrever o perfil sóciodemográfico, exposição à teratógenos e anormalidades oculares congênitas em pacientes brasileiros portadores da sequência de Möbius Método: Quarenta e quatro pacientes recrutados da Sociedade Brasileira de Sequência de Möbius foram examinados. Este estudo transversal incluiu 41 pacientes que preencheram os critérios de inclusão do estudo (média das idades: 9,0 ± 5,5 anos). Mãe/responsável dos pacientes responderam a um questionário sobre perfil sóciodemográfico e história gestacional. Foi realizado exame oftalmológico de todos os pacientes. Eles foram agrupados em dois grupos de acordo com a exposição ao misoprostol durante a gestação e seus dados foram comparados. Resultados: Mães/responsáveis referiram gravidez indesejada em 36 (88%) dos casos. Destas, 19 (53%) fizeram uso de misoprostol no primeiro trimestre de gestação. Houve uma tendência do grupo de mães não expostas ao misoprostol de terem um estado civil estável (P=0,051). Duas (11%) mães do grupo de expostas ao misoprostol relataram primeiro grau incompleto e três (14%) do grupo de não expostas (P=0,538). A exposição das mães à cocaína, maconha, álcool e cigarro foi similar em ambos os grupos (P=0,297, P=0,297, P=0,428, P=0,444, respectivamente). Houve um caso (5%) de Rubéola no grupo de mães não expostas. As principais malformações associadas nos pacientes expostos e não expostos foram, respectivamente: estrabismo (72% e 77%), e diminuição da lágrima emocional (47% e 36%) e lagoftalmia (32% and 41%). Conclusão: Estado civil estável foi mais frequente em mães que não fizeram uso de misoprostol durante a gestação. Exposição à outros ...

One Year of Pediatric Ophthalmology and Strabismus Research in Review.

PURPOSE: To highlight recent advances in amblyopia and strabismus. DESIGN: Literature review. METHODS: A literature search of articles published in the English language was performed in PubMed or MEDLINE between May 2012 and April 2013 using the terms amblyopia or strabismus. Articles deemed relevant were selected. RESULTS: The review highlights articles that increase our understanding of strabismus and amblyopia as well as newer treatment strategies. CONCLUSIONS: The review highlights some new information and possible future advances in amblyopia and strabismus.

What can we learn from the thalidomide experience: an ophthalmologic perspective.

PURPOSE OF REVIEW: The thalidomide tragedy of the early 1960s resulted in a great number of studies and reports involving many specialties of medicine. Because of the estimated large number of affected children (5000+) worldwide exposed to this potent teratogen, and the many informative cases in which the exposure time was known, a teratogenic timetable was constructed relating affected structures to the time of exposure. This demonstrated that thalidomide had a teratogenic effect between approximately 20 to 36 days after fertilization. RECENT FINDINGS: We found that Duane syndrome and its variants were prominent in individuals who were exposed to thalidomide early in the sensitive period (days 20 to 26±). Other anomalies associated with this early effect were aberrant tearing, facial nerve palsy, ear malformations, and autism. Structural eye malformations were less frequent in this early phase, appearing slightly later in the sensitive period. SUMMARY: This study summarizes the ophthalmologic findings from a number of studies and compares them with respect to the implications of time of exposure. Because the timing of anomalies such as external ear and limb malformations are well established in the thalidomide literature, correlation with associated eye anomalies gives insight into the approximate timing of the causative teratogen exposure.

Macular thinning associated with unilateral optic nerve hypoplasia.

The authors present the case of an 8-year-old boy with a long-term diagnosis of unilateral optic nerve hypoplasia (ONH) of unknown cause in the right eye. Spectral-domain optical coherence tomography (SD-OCT) of the central macula was consistent with hypoplasia greatest in the inner retinal layers, but also involving the outer retinal layers when compared with the unaffected contralateral eye. Although ONH is commonly associated with hypoplasia of the nerve fiber and ganglion cell layers, it can also be associated with hypoplasia of other layers in the inner and outer retina, including the outer nuclear and photoreceptor inner/outer segment layers, as evidenced by SD-OCT.

Peripapillary staphyloma with associated retinopathy of prematurity.

PURPOSE: To report a case of asymmetric retinopathy of prematurity associated with a peripapillary staphyloma. METHODS: Case report. RESULTS: A 1,545-g male infant was born at 34 weeks' gestation. He was noted on initial examination to have a peripapillary staphyloma in the left eye and immature retinal vasculature in zone 2 of both eyes. Follow-up examination at 16 weeks of age showed a normal right eye with full vascularization and zone 2, stage 2 retinopathy of prematurity in the left eye. CONCLUSION: To our knowledge, this is the first reported case of peripapillary staphyloma in which only the affected eye developed retinopathy of prematurity.

[Humoral immune response to dengue virus in mothers/children: relation with Möbius sequence]. / Resposta humoral ao vírus dengue em mães/filhos: relação com a sequência de Möbius.

PURPOSE: To investigate the humoral immune response to dengue virus in patients with Möbius sequence and their mothers, assessing the relation between this infection during pregnancy and Möbius sequence. METHODS: The medical records were reviewed, and a questionnaire was answered by each mother. IgG ELISA was performed in 35 patients and their mothers. A plaque reduction neutralization test was further done in the mothers who reported a viral infection during pregnancy and in their children for determining which dengue serotype virus had caused the infection. RESULTS: Fever, headache and/or retrobulbar pain during pregnancy was referred by eighteen (51.4%) mothers. Three (8.6%) reported dengue during the first or second quarteers of pregnancy. When cross analyzing the mothers and their respective children serological results, 57.1% of them matched. Of the three mothers with clinical diagnosis of viral infection during pregnancy, one and its respective children had a positive plaque reduction neutralization test for dengue serotype three (DENV-3), this serotype reached Pernambuco in 2002, which excludes the possibility of a vertical transmission to the children. CONCLUSION: The serology of the cases that had clinical diagnosis of dengue during pregnancy proved to be incompatible with the hypothesis of the disease vertical transmission. Therefore, in the present serie, the dengue virus infection can not be considered as a factor involved in the genesis of Möbius sequence.

Thalidomide and misoprostol: Ophthalmologic manifestations and associations both expected and unexpected.

Thalidomide is a very potent teratogen capable of causing severe systemic malformations if the fetus is exposed during the sensitive period. Although structural anomalies of the eye can occur from thalidomide exposure, the most frequent eye complication is secondary to damage to the cranial nuclei in the brain stem, resulting in aberrant neurologic connections causing a condition of abnormal ocular movement, Duane syndrome. A less frequent anomalous neurologic complication is tearing when eating (paradoxical gustolacrimal tearing or "crocodile tears") or lack of emotional tearing. The involvement of the 6th and 7th cranial nerves, often seen together in the thalidomide-affected individual, is also characteristic of Möbius syndrome/sequence. This syndrome usually occurs sporadically, but characteristic findings of this condition have also been observed in South American children who were born after an unsuccessful attempt to induce abortion with the prostaglandin drug misoprostol (Cytotec). Aberrant tearing also occurs in some individuals with Möbius syndrome. Autism spectrum disorder (ASD), an unexpected associated finding in a Swedish thalidomide study, is now also noted in Möbius studies, in patients both with and without exposure to misoprostol.

Resposta humoral ao vírus dengue em mães/filhos: relação com a sequência de Mõbius / Humoral immune response to dengue virus in mothers/children: relation with Mõbius sequence

OBJETIVO: Investigar a resposta humoral para o vírus dengue em pacientes com sequência de Mõbius e suas mães, analisando a relação entre a infecção na gestação e o nascimento de portadores da sequência de Mõbius. MÉTODOS: Foram revisados os prontuários dos pacientes atendidos em centro de referência. Aplicou-se um questionário estruturado a cada genitora. Sorologia por Elisa para IgG de dengue foi efetuada em 35 pacientes e suas mães. O teste de neutralização por redução em placas foi feito nas que referiram infecção viral na gestação e em seus filhos, para determinar o sorotipo viral causador da infecção. RESULTADOS: Febre, cefaléia e/ou dor retro-orbitária foi referida por 18 (51,4 por cento) mães. Três (8,6 por cento) referiram dengue no primeiro ou início do segundo trimestre de gestação. Cruzando-se as informações das sorologias das mães e crianças observou-se que em 57,1 por cento dos casos há positividade sorológica para o vírus do dengue na mãe e no filho. Das três mães com infecção na gestação, uma e seu filho, apresentou teste de neutralização por redução em placa positivo para o vírus dengue tipo três (DENV-3), entretanto o sorotipo apenas foi introduzido em Pernambuco em 2002, o que exclui a possibilidade de ter ocorrido transmissão vertical da doença. CONCLUSÃO: As sorologias dos casos que tiveram diagnóstico clínico de dengue na gravidez revelaram-se incompatíveis com a hipótese de ter ocorrido transmissão vertical da doença. Portanto, na amostra estudada, a infecção pelo vírus do dengue não pode ser considerada como fator implicado na gênese da sequência de Mõbius.

PURPOSE: To investigate the humoral immune response to dengue virus in patients with Mõbius sequence and their mothers, assessing the relation between this infection during pregnancy and Mõbius sequence. METHODS: The medical records were reviewed, and a questionnaire was answered by each mother. IgG ELISA was performed in 35 patients and their mothers. A plaque reduction neutralization test was further done in the mothers who reported a viral infection during pregnancy and in their children for determining which dengue serotype virus had caused the infection. RESULTS: Fever, headache and/or retrobulbar pain during pregnancy was referred by eighteen (51.4 percent) mothers. Three (8.6 percent) reported dengue during the first or second quarteers of pregnancy. When cross analyzing the mothers and their respective children serological results, 57.1 percent of them matched. Of the three mothers with clinical diagnosis of viral infection during pregnancy, one and its respective children had a positive plaque reduction neutralization test for dengue serotype three (DENV-3), this serotype reached Pernambuco in 2002, which excludes the possibility of a vertical transmission to the children. CONCLUSION: The serology of the cases that had clinical diagnosis of dengue during pregnancy proved to be incompatible with the hypothesis of the disease vertical transmission. Therefore, in the present serie, the dengue virus infection can not be considered as a factor involved in the genesis of Mõbius sequence.

Congenital aberrant tearing: a re-look.

PURPOSE: Congenital aberrant tearing is characterized by tearing when eating ("crocodile tears"), lack of emotional tearing, or both. Most reported cases are associated with Duane syndrome. In our previous studies we observed aberrant tearing in individuals with thalidomide embryopathy and Möbius sequence. This report summarizes the literature on the subject and adds 3 new studies that give information on this unusual condition. METHODS: Twenty-eight individuals with Möbius sequence were interviewed about tearing symptoms at a support group meeting in Italy. In Sweden 30 adults primarily from the original thalidomide series were reexamined. In this latter study, a Schirmer test was done at baseline and repeated 5 minutes after eating. Twenty families in Brazil who have children with Möbius sequence were questioned about tearing symptoms and exposure to misoprostol during pregnancy. RESULTS: In the 28 Italian individuals, either "crocodile tears" or lack of emotional tearing was noted in 7 cases. In the thalidomide study, 10 of 30 patients had tearing when eating and 7 had no emotional tearing. Low Schirmer scores or increased tearing after eating was noted in a few asymptomatic individuals. Among the 20 Brazilian children with Möbius sequence, 10 had some tearing abnormality. CONCLUSION: Congenital anomalous lacrimation is rare but usually associated with Duane syndrome or abduction deficits, as in Möbius sequence and, less frequently, facial nerve palsy. Studies implicate an early insult in development at 4 to 6 weeks. At that time the facial nerve, sixth nerve, and lacrimal nucleus are in close proximity in the embryo.

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, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis.

Formação de Oftalmopediatras no Brasil / Pediatrics ophthalmology training in Brazil

RESUMO: Este estudo teve como objetivo analisar a formação de oftalmopediatras nos Cursos de Especialização em Oftalmologia, credenciados pelo Conselho Brasileiro de Oftalmologia, verificando-se a presença de departamentos especializados para o atendimento da população peiátrica tais como: estrabismo, visão sub-normal e catarata congênita. Foi realizada uma survey nos serviços que oferecem Curso de Especialização em Oftalmologia credenciado pelo Conselho Brasileiro de Oftalmologia (CBO). Os questionários foram enviados via eletrônica, pelo correio, por fax e feito contato telefônico. Os dados foram expressos por suas freqüências. Foram respondidos 33 questionários. Em quatro serviços existe curso formal de oftalmologia pediátrica; nos quais, nos últimos seis anos, foram formados 40 profissionais nesta área. Dos entrevistados, cinco não Possuíam Departamento de Oftalmopediatria, sendo o atendimento às crianças realizado pelo oftalmologista generalista. Isto reflete uma deficiência importante, tendo em vista ser de consenso, que o atendimento oftalmológico das crianças deve ser realizado por profissionais com treinamento específico

Autism with ophthalmologic malformations: the plot thickens.

PURPOSE: To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. METHODS: In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother's pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt. RESULTS: In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). CONCLUSION: Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome.