Autism and Genetics

Smalley, Susan L.

doi:10.1001/archpsyc.1988.01800340081013

Cited by 310 publications

(38 citation statements)

References 61 publications

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“…2,5,6 Reported sib risks are consistent with DZ twin concordance rates ranging from 2.8 to 7.0% whereas rates in control families are much lower. [7][8][9] In contrast, the rate of autism in relatives more distant than sibs is extremely low. 10 This risk pattern is consistent with autism susceptibility resulting from the presence of elevated-risk alleles at several genes.…”

Section: Introductionmentioning

confidence: 98%

Evidence for multiple loci from a genome scan of autism kindreds

et al. 2006

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We performed a genome-wide linkage scan using highly polymorphic microsatellite markers. To minimize genetic heterogeneity, we focused on sibpairs meeting the strict diagnosis of autism. In our primary analyses, we observed a strong linkage signal (P = 0.0006, 133.16 cM) on chromosome 7q at a location coincident with other linkage studies. When a more relaxed diagnostic criteria was used, linkage evidence at this location was weaker (P = 0.01). The sample was stratified into families with only male affected subjects (MO) and families with at least one female affected subject (FC). The strongest signal unique to the MO group was on chromosome 11 (P = 0.0009, 83.82 cM), and for the FC group on chromosome 4 (P = 0.002, 111.41 cM). We also divided the sample into regression positive and regression negative families. The regression-positive group showed modest linkage signals on chromosomes 10 (P = 0.003, 0 cM) and 14 (P = 0.005, 104.2 cM). More significant peaks were seen in the regression negative group on chromosomes 3 (P = 0.0002, 140.06 cM) and 4 (P = 0.0005, 111.41 cM). Finally, we used language acquisition data as a quantitative trait in our linkage analysis and observed a chromosome 9 signal (149.01 cM) of P = 0.00006 and an empirical P-value of 0.0008 at the same location. Our work provides strong conformation for an autism locus on 7q and suggestive evidence for several other chromosomal locations. Diagnostic specificity and detailed analysis of the autism phenotype is critical for identifying autism loci.

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Section: Introductionmentioning

confidence: 98%

Evidence for multiple loci from a genome scan of autism kindreds

et al. 2006

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“…Most AD cases do not fit a simple Mendelian pattern of inheritance. Carriers of susceptibility genes for non-Mendelian disorders often do not develop the disorders, and environmental factors may determine which gene carriers become ill (e.g., Smalley et al 1988). …”

Section: Introductionmentioning

confidence: 99%

Autism Prevalence Following Prenatal Exposure to Hurricanes and Tropical Storms in Louisiana

Kinney

Miller

Crowley

et al. 2007

J Autism Dev Disord

250

177

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Hurricanes and tropical storms served as natural experiments for investigating whether autism is associated with exposure to stressful events during sensitive periods of gestation. Weather service data identified severe storms in Louisiana from 1980 to 1995 and parishes hit by storm centers during this period. Autism prevalences in different cohorts were calculated using anonymous data on birth dates and parishes of children diagnosed with autism in the state mental health system, together with corresponding census data on all live births in Louisiana. Prevalence increased in dose-response fashion with severity of prenatal storm exposure, especially for cohorts exposed near the middle or end of gestation (p < 0.001). Results complement other evidence that factors disrupting development during sensitive gestational periods may contribute to autism.

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“…Autism is highly heritable disorder and, as such, siblings of children with autism have a risk of developing autism of 2.8-7% (August et al 1981;Bailey et al 1996;Smalley et al 1988;Veenstra-Vanderwheele and Cook 2003), while the general population has approximately a 0.6% prevalence of ASD (Fombonne 2005). Delays in language, social impairment and use of gestures are also present in siblings of children with autism, even in siblings who do not have an autism diagnosis (Piven et al 1990;Toth et al 2007;Mitchell et al 2006;Cassel et al 2007).…”

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confidence: 99%

Head Circumference as an Early Predictor of Autism Symptoms in Younger Siblings of Children with Autism Spectrum Disorder

Elder

Dawson

Toth

et al. 2007

J Autism Dev Disord

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Siblings of children with autism have an increased risk for autism spectrum disorders (ASD). As children with autism often exhibit an atypical trajectory of head circumference (HC) growth, HC may be an indicator of vulnerability to autism. This study investigated whether infant siblings of children with ASD (n = 77) with an atypical trajectory of HC growth were more likely than those without an atypical HC trajectory to develop autism symptoms. Results showed that infants who had larger HC at 12 months, and whose HC growth rate decelerated more rapidly between 12 and 24 months were more likely to exhibit autism symptoms than infants with more typical HC trajectories. Among infant siblings of children with autism, atypical HC growth might alert pediatricians to provide screening and/or referral for further evaluation.

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Autism and Genetics

Cited by 310 publications

References 61 publications

Evidence for multiple loci from a genome scan of autism kindreds

Evidence for multiple loci from a genome scan of autism kindreds

Autism Prevalence Following Prenatal Exposure to Hurricanes and Tropical Storms in Louisiana

Head Circumference as an Early Predictor of Autism Symptoms in Younger Siblings of Children with Autism Spectrum Disorder

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