The co‐occurrence of autism and birth defects: prevalence and risk in a population‐based cohort

Schendel, Diana; Autry, Andrew; Wines, Roberta; Moore, Cynthia A.

doi:10.1111/j.1469-8749.2009.03310.x

Cited by 35 publications

(33 citation statements)

References 33 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…There is strong evidence that fetal valproate exposure is associated with elevated rates of birth defects, 37 and that birth defects and autism often co-occur. 17 Our data suggest that there is an elevated risk of ASD independent of the presence of major birth defects, and highlight the importance of continued monitoring of exposed children beyond infancy, particularly in those for whom initial surveillance is unremarkable.…”

Section: Discussionmentioning

confidence: 56%

See 1 more Smart Citation

Prospective assessment of autism traits in children exposed to antiepileptic drugs during pregnancy

et al. 2015

View full text Add to dashboard Cite

Summary Purpose The association between autism spectrum disorders (ASDs) and prenatal anticonvulsant exposure is increasingly investigated, but comprehensive, blinded assessment using a validated instrument for autism within a well‐characterized prospective cohort has not been conducted. Thus, existing studies may represent an underestimate of the true risk. Herein we present a prospective cohort study in children exposed to anticonvulsants during pregnancy, with all assessments conducted by examiners who were blinded to drug‐exposure status. Methods Participants were 105 Australian children aged 6–8 years who were recruited via the Australian Pregnancy Register for Women on Antiepileptic Medication. Maternal epilepsy, pregnancy, and medical history data were obtained prospectively. Autism traits were assessed using the Childhood Autism Rating Scale (CARS). Results Eleven children (10.5%) had elevated CARS scores. Two were exposed to valproate monotherapy (2/26; 7.7%), two to carbamazepine monotherapy (2/34; 5.9%), and seven to valproate in polytherapy (7/15; 46.7%). Linear regression analysis showed that the mean valproate dose during pregnancy was a significant predictor of CARS scores after controlling for polytherapy, mean carbamazepine dose, folic acid use, seizures during pregnancy, tobacco and marijuana use, maternal intelligence quotient (IQ), and socioeconomic status. First trimester folic acid supplementation and marijuana use were also significant predictors of CARS scores. Significance Using direct assessment of children in our prospective study, we found an elevated rate of autism traits across the sample. The most important determinant of association with autistic traits was higher doses of sodium valproate exposure. The use of valproate in women who may become pregnant is now generally avoided; however, there are insufficient data regarding the risk of ASD with low‐dose valproate. If this risk is no greater than with other antiepileptic drugs (AED)s, it may enable women with genetic generalized epilepsy to retain optimal seizure control as well as minimize harm to their unborn child.

show abstract

Section: Discussionmentioning

confidence: 56%

“…16 Children with major birth defects or a diagnosis of epilepsy were excluded, as these conditions are known risk factors for ASD. 17,18 Between November 2007 and May 2010, 175 women with 190 children aged 6-8 years were identified from the APR and invited to participate in the study. Mothers of 27 children (14%) declined to participate.…”

Section: Participantsmentioning

confidence: 99%

Prospective assessment of autism traits in children exposed to antiepileptic drugs during pregnancy

et al. 2015

View full text Add to dashboard Cite

show abstract

“…It is likely that these rates are under-reported because investigation of ASD co-occurring conditions was not the focus of the ADDM surveillance effort. However, a cohort study of children in Georgia found a similar prevalence of chromosomal disorders and Down syndrome in persons with ASD (Schendel et al, 2009). …”

Section: Resultsmentioning

confidence: 98%

“…Among children who met a surveillance definition for an ASD, 55 % had abnormal mood or affect compared to 26 % of children with at least one symptom of an ASD but no ASD diagnosis (Schendel et al, 2009). The Special Needs Autism Project in the UK found 44 cases of emotional disorder per 100 children with ASD (Simonoff et al, 2008).…”

Section: Resultsmentioning

confidence: 99%

A Review of the Differences in Developmental, Psychiatric, and Medical Endophenotypes Between Males and Females with Autism Spectrum Disorder

2014

View full text Add to dashboard Cite

Autism spectrum disorder (ASD) is over four times more prevalent in males compared to females. Increased understanding of sex differences in ASD endophenotypes could add insight into possible etiologies and the assessment and management of the disorder. Consequently, the purpose of this review is to describe current literature regarding sex differences in the developmental, psychiatric, and medical endophenotypes of ASD in order to illustrate current knowledge and areas in need of further research. Our review found that repetitive behaviors and restricted interests are more common in males than females with ASD. Intellectual disability is more common in females than males with ASD. Attention to detail may be more common in males than females with ASD and epilepsy may be more common in females than males with ASD, although limited research in these areas prevent definitive conclusions from being drawn. There does not appear to be a sex difference in other developmental, psychiatric, and medical symptoms associated with ASD, or the research was contradictory or too sparse to establish a sex difference. Our review is unique in that it offers detailed discussion of sex differences in three major endophenotypes of ASD. Further research is needed to better understand why sex differences exist in certain ASD traits and to evaluate whether phenotypic sex differences are related to different pathways of development, assessment, and treatment of the disorder.

show abstract

“…Whether these conditions arise independently of ASDs as a consequence of the core ASD deficits or as an endophenotype that predisposes a child to have an ASD or can be attributed to the underlying neuropathologic abnormalities is not clear. Individuals with an ASD are more likely than the general population to have major congenital anomalies, especially those individuals with a co-occurring intellectual or other disability (Hultman et al 2002; Schendel et al 2009; Wier et al 2006). Children with autism who have dysmorphic features also are more likely to have a known genetic syndrome or a structurally abnormal brain, compared with children with autism who do not have dysmorphic features (Miles and Hillman 2000).…”

Section: Seed Scientific Background and Aimsmentioning

confidence: 99%

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

Schendel

Guiseppi

Croen

et al. 2012

J Autism Dev Disord

128

176

View full text Add to dashboard Cite

The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case–control design with population-based ascertainment of children aged 2–5 years with an autism spectrum disorder (ASD) and children in two control groups—one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes.

show abstract

The co‐occurrence of autism and birth defects: prevalence and risk in a population‐based cohort

Cited by 35 publications

References 33 publications

Prospective assessment of autism traits in children exposed to antiepileptic drugs during pregnancy

Prospective assessment of autism traits in children exposed to antiepileptic drugs during pregnancy

A Review of the Differences in Developmental, Psychiatric, and Medical Endophenotypes Between Males and Females with Autism Spectrum Disorder

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

Contact Info

Product

Resources

About