Autism and Möbius sequence: an exploratory study of children in northeastern Brazil

Bandim, José Marcelino; Ventura, Liana; Miller, Marilyn T.; Almeida, Henderson Celestino de; Costa, Ana Elizabeth Santos

doi:10.1590/s0004-282x2003000200004

Cited by 99 publications

(100 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…As noted previously, autism risk factors include environmental challenges, such as maternal use of pharmaceutical agents with neurotoxic effects, [226][227][228]241,242 prenatal exposure to viral infections or maternal stress 233,234 and, in addition, exposure to high levels of environmental pollutants, including heavy metals. 275,276 A recent review by Herbert et al 7 identified 135 genes that have been shown to mediate responses to environmental challenge, and that are located within autism linkage regions.…”

Section: Genes Responsive To Environmental Factorsmentioning

confidence: 97%

“…235,238,239 Exposure to teratogens during gestation has also been shown to be a risk factor for autism, with higher disease incidence associated with maternal use of valproic acid, [226][227][228]240 thalidomide 241 and misoprostol. 242 The detrimental neurodevelopmental effects of maternal infection have been attributed, in part, to the induction of inflammatory cytokines. 243 Mouse models for prenatal exposure to maternal infection or inflammation have shown that the challenged offspring demonstrate an altered behavioral phenotype, including deficiencies in social interaction, exploration and sensorimotor gating.…”

Section: Mouse Models Of Environmental Contributions To Autism Etiologymentioning

confidence: 99%

See 1 more Smart Citation

Advances in behavioral genetics: mouse models of autism

2007

View full text Add to dashboard Cite

Autism is a neurodevelopmental syndrome with markedly high heritability. The diagnostic indicators of autism are core behavioral symptoms, rather than definitive neuropathological markers. Etiology is thought to involve complex, multigenic interactions and possible environmental contributions. In this review, we focus on genetic pathways with multiple members represented in autism candidate gene lists. Many of these pathways can also be impinged upon by environmental risk factors associated with the disorder. The mouse model system provides a method to experimentally manipulate candidate genes for autism susceptibility, and to use environmental challenges to drive aberrant gene expression and cell pathology early in development. Mouse models for fragile X syndrome, Rett syndrome and other disorders associated with autistic-like behavior have elucidated neuropathology that might underlie the autism phenotype, including abnormalities in synaptic plasticity. Mouse models have also been used to investigate the effects of alterations in signaling pathways on neuronal migration, neurotransmission and brain anatomy, relevant to findings in autistic populations. Advances have included the evaluation of mouse models with behavioral assays designed to reflect disease symptoms, including impaired social interaction, communication deficits and repetitive behaviors, and the symptom onset during the neonatal period. Research focusing on the effect of gene-by-gene interactions or genetic susceptibility to detrimental environmental challenges may further understanding of the complex etiology for autism.

show abstract

Section: Genes Responsive To Environmental Factorsmentioning

confidence: 97%

Section: Mouse Models Of Environmental Contributions To Autism Etiologymentioning

confidence: 99%

Advances in behavioral genetics: mouse models of autism

2007

View full text Add to dashboard Cite

show abstract

“…In most studies, Moebius sequence has been defined as a congenital facial weakness with congenital impairment of ocular abduction [1,7,27,28].…”

Section: Introductionmentioning

confidence: 99%

“…So far, four studies with 17-37 Moebius patients [1,11,12,27] showed a markedly increased incidence of autism spectrum disorder (ASD) (5-29 vs. 0.63% in the normal population [8]). Nevertheless, the association of Moebius sequence with ASDs seems to be questionable as some of these studies showed methodological problems, and mental retardation was overrepresented in at least two of them [6].…”

Section: Introductionmentioning

confidence: 99%

Autism spectrum disorders in children and adolescents with Moebius sequence

Briegel

Schimek

Kamp‐Becker³

et al. 2009

Eur Child Adolesc Psychiatry

View full text Add to dashboard Cite

show abstract

“…In addition, in more than 50% of cases, the environmental agent that caused a fetal anomaly is not identified (3) . Misoprostol, alcohol, cigarettes, marijuana, cocaine, and rubella have been associated with Möbius sequence (7,10,13,(16)(17)(18)20,21,29,30) . In the present study, teratogens could be identified in most cases (56%), and 9.8% of the mothers were exposed to more than one teratogen.…”

mentioning

confidence: 99%

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

Ventura¹,

Ventura²,

Miller³

et al. 2014

Arquivos Brasileiros De Oftalmologia

Self Cite

View full text Add to dashboard Cite

Purpose: To assess the sociodemographic profiles, teratogen exposures, and ocu lar 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). Conclusions: 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. (P=0,297, P=0,297, P=0,428, P=0,444, respectivamente The use of abortive medications, such as misoprostol and certain herbal teas, are common in these countries (7,8) and are associated with congenital anomalies (7,(9)(10)(11) . Möbius sequence is a rare congenital disorder with an estimated prevalence in the general population of 1:500 to 1:5,000 newborns (7,12) . Although most cases are sporadic and some have been re- lated to genetic mutations (13)(14)(15) , intrauterine exposure to misoprostol and other teratogens has been associated with its occurrence (16)(17)(18)(19)(20)(21) . The aim of the present study was to report the sociodemographic profiles, teratogen exposures, and congenital abnormalities in patients with Möbius sequence. Keywords METHODSThis cross-sectional study followed the tenets of the Declaration of Helsinki and was approved by the Ethics Committee on Human Research of the Santa Casa de Misericórdia of São Paulo. Each patient and/or caregiver gave written informed consent before being included in the study. The data used in this study were collected by a multidisciplinary team from several institutions from North America (University of Illinois, Chicago) The Brazilian Möbius Syndrome Society is an association in southeastern Brazil for patients with Möbius sequence. The patients were recruited b...

show abstract

Autism and Möbius sequence: an exploratory study of children in northeastern Brazil

Cited by 99 publications

References 24 publications

Advances in behavioral genetics: mouse models of autism

Advances in behavioral genetics: mouse models of autism

Autism spectrum disorders in children and adolescents with Moebius sequence

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

Contact Info

Product

Resources

About