Autism is among the most clearly genetically determined of all cognitive-developmental disorders, with males affected more often than females. We have analyzed autism risk in multiplex families from the Autism Genetic Resource Exchange (AGRE) and find strong evidence for dominant transmission to male offspring. By incorporating generally accepted rates of autism and sibling recurrence, we find good fit for a simple genetic model in which most families fall into two types: a small minority for whom the risk of autism in male offspring is near 50%, and the vast majority for whom male offspring have a low risk. We propose an explanation that links these two types of families: sporadic autism in the low-risk families is mainly caused by spontaneous mutation with high penetrance in males and relatively poor penetrance in females; and high-risk families are from those offspring, most often females, who carry a new causative mutation but are unaffected and in turn transmit the mutation in dominant fashion to their offspring.human genetics ͉ neurodevelopmental disorders ͉ population genetics A utism Spectrum Disorder (ASD) (Online Mendelian Inheritance in Man accession no. 209850) is characterized by language impairments, social deficits, and repetitive behaviors; can occur either sporadically (simplex) or in a familial (multiplex) pattern; occurs far more commonly in males; and has an overall incidence of Ϸ1 in 150 births (1). Monozygotic (MZ) twins show Ͼ70% concordance (2), higher with broader diagnostic criteria, and much higher than observed in dizygotic (DZ) twins, strongly suggesting that autism is genetically determined. Children with affected siblings have a higher risk than the general population, suggesting that autism can be inherited at least partially from preexisting genetic variants in parents.Autism is likely to involve many genes. Linkage studies find no single locus of major effect but rather a very minor increase in allele sharing over the entire genome among concordant sibs (3-9). Cytogenetic studies (10), and more recently copy number analyses (9,11,12), support the idea that many loci may contribute to the disease.Sibling and DZ concordance rates are perhaps one-tenth of MZ concordance rates, and this discrepancy, plus the suggestion of a large number of risk loci, has led many to expect that autism is attributable to complex multigenic interactions rather than simple dominant or recessive mutations. However, our current knowledge of genetic factors in autism suggests otherwise. Most of what we know about heritable risk factors comes from monogenic disorders, including fragile X syndrome (13-15), Rett syndrome (16), and tuberous sclerosis (17). Furthermore, cytogenetic findings and, more recently, copy number analysis point to a higher incidence of spontaneous mutation in children with sporadic autism (11), presumably occurring in a parental germ line.An alternate to the multigenic interaction hypothesis is worth considering; most cases of autism are due to de novo mutation in the parental germ li...

Objectives: To examine patterns of autism spectrum disorder (ASD) inheritance and other features in twin pairs by zygosity, sex, and specific ASD diagnosis.

The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD.

The impact of the 2019 coronavirus pandemic (COVID-19) in the United States is unprecedented, with unknown implications for the autism community. We surveyed 3502 parents/caregivers of individuals with an autism spectrum disorder (ASD) enrolled in Simons Powering Autism Research for Knowledge (SPARK) and found that most individuals with ASD experienced significant, ongoing disruptions to therapies. While some services were adapted to telehealth format, most participants were not receiving such services at follow-up, and those who were reported minimal benefit. Children under age five had the most severely disrupted services and lowest reported benefit of telehealth adaptation. Caregivers also reported worsening ASD symptoms and moderate family distress. Strategies to support the ASD community should be immediately developed and implemented.

Patterns of current psychotropic medication use among 5,181 children with autism spectrum disorders (ASD) enrolled in a Web-based registry were examined. Overall, 35% used at least one psychotropic medication, most commonly stimulants, neuroleptics, and/or antidepressants. Those who were uninsured or exclusively privately insured were less likely to use >or=3 medications than were those insured by Medicaid. Psychiatrists and neurologists prescribed the majority of psychotropic medications. In multivariate analysis, older age, presence of intellectual disability or psychiatric comorbidity, and residing in a poorer county or in the South or Midwest regions of the United States increased the odds of psychotropic medication use. Factors external to clinical presentation likely affect odds of psychotropic medication use among children with ASD.