(Jan 2021)
Mikhail VysotskiyXue ZhongTyne W. Miller-FlemingDan ZhouAutism Working Group of the Psychiatric Genomics ConsortiumBipolar Disorder Working Group of the Psychiatric Genomics ConsortiumSchizophrenia Working Group of the Psychiatric Genomics ConsortiumNancy J. CoxLauren A Weiss


Deletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variants (CNVs) are associated with brain-related disorders including schizophrenia, intellectual disability, obesity, bipolar disorder, and autism spectrum disorder (ASD). The contribution of individual CNV genes to each of these phenotypes is unknown, as is the contribution of CNV genes to subtler health impacts. Hypothesizing that DNA copy number acts via RNA expression, we attempted a novel in silico fine-mapping approach in non-carriers using both GWAS and biobank data. We first asked whether expression level of a CNV gene impacts risk for a known brain-related phenotype(s). Using transcriptomic imputation, we tested for association within GWAS for schizophrenia, IQ, BMI, bipolar disorder, and ASD. We found individual genes in 16p11.2 associated with schizophrenia, BMI, and IQ (SPN), using conditional analysis to identify INO80E as the driver of schizophrenia, and SPN and INO80E as drivers of BMI. Second, we used a biobank containing electronic health data to compare the medical phenome of CNV carriers to controls within 700,000 individuals to investigate a spectrum of health effects, identifying novel and previously observed traits. Third, we used genotypes for over 48,000 biobank individuals to perform phenome-wide association studies between imputed expressions of 16p11.2 and 22q11.2 genes and over 1,500 health traits, finding seventeen significant gene-trait pairs, including psychosis (NPIPB11, SLX1B) and mood disorders (SCARF2), and overall enrichment of mental traits. Our results demonstrate how integration of genetic and clinical data aids in understanding CNV gene function, and implicate pleiotropy and multigenicity in CNV biology.

(Nov 2020)

Psychoneuroendocrinology — Autism spectrum disorder (ASD) has been associated with imbalance between excitatory and inhibitory (E/I) neurotransmission systems, as well as with neuroinflammation. Sitting at the crossroads between E/I imbalance and neuroinflammation is a class of endogenous hormones known as neurosteroids. Current literature points to dysregulated steroid metabolism and atypical neurosteroid levels in ASD as early as in utero. However, due to the complexity of neurosteroid metabolomics, including possible sex differences, the impact of neurosteroids on ASD symptomatology remains unclear. In this study, we assessed neurosteroid levels and ASD symptom severity of 21 males with ASD and 20 full-scale-IQ-matched typically developing (TD) males, all aged 18-39. Using liquid chromatography-tandem mass spectrometry, concentrations of allopregnanolone, cortisol, dehydroepiandrosterone, progesterone, and testosterone were measured in saliva and serum. With the exception of cortisol's, all neurosteroids' concentrations were found to have ASD vs. TD group differences in distribution, where one group was normally distributed and the other non-normally distributed. Serum allopregnanolone levels in males with ASD were found to negatively correlate with clinician-rated measures of restricted and repetitive behavior measures (ADOS-2 RRB and ADI-R RRSB domain scores). Additionally, lower serum allopregnanolone levels were found to predict more negative camouflaging scores, which represent greater differences in self- and clinician-rated symptom severity, of both ASD symptomatology overall and repetitive behaviors in particular. Taken together, our findings demonstrate that in adult males with ASD, decreased serum allopregnanolone levels are associated with more severe restricted and repetitive behaviors and with less insight into the severity of these behaviors.

( 2020)

Healthcare service utilization and cost among transition-age youth with autism spectrum disorder and other special healthcare needs — Youth with autism spectrum disorder often have complex medical needs. Disruptions of healthcare during the transition from pediatric to adult healthcare may put youth with autism spectrum disorder at higher risk of medical emergencies and high medical costs. We conducted a study among transition-age youth (14–25 years old) receiving healthcare at Kaiser Permanente Northern California during 2014–2015. We examined the differences in healthcare utilization and costs among youth with autism spectrum disorder (n = 4123), attention deficit and hyperactivity disorder (n = 20,6015), diabetes mellitus (n = 2156), and general population controls (n = 20,615). Analyses were also stratified by age and sex. Youth with autism spectrum disorder had the highest utilization of outpatient primary care, mental health, and psychotropic medications and the lowest utilization of obstetrics/gynecology and urgent care. Costs for youth with autism spectrum disorder were higher than those for attention deficit and hyperactivity disorder and general population peers and lower than for diabetes mellitus. Utilization patterns varied by age. Transition-age youth with autism spectrum disorder generally utilize healthcare at higher rates relative to attention deficit and hyperactivity disorder and general population peers but at similar or lower rates than diabetes mellitus peers, indicating this group’s complex combination of psychiatric and medical healthcare needs. The relatively high utilization of psychiatric services and low utilization of women’s health services in transition-age youth with autism spectrum disorder may have implications for long-term health and warrants additional research.

( 2020)

Transitioning youth with autism spectrum disorders and other special health care needs into adult primary care: A provider surveyHealth care continuity during the transition from pediatric to adult care is critical to helping individuals with autism spectrum disorders manage complex medical and psychiatric co-morbidities that start in childhood and evolve with age. We conducted a brief online survey of pediatric and adult providers at Kaiser Permanente Northern California, a large integrated health care delivery system, to assess departmental policies and personal approaches to transitioning patients with special health care needs, including autism spectrum disorders. A total of 354 pediatric (43% response rate) and 715 adult providers (30% response rate) completed the survey. A large majority of departments did not have transition policies in place. Many providers in both primary care and mental health did not provide transition resources, review legal changes, use standardized assessment tools, or communicate with the next/previous provider. Transition planning was usually delayed until age 17 or later. Most providers did not have consistent approaches to the transition of care for youth with special health care needs and may be inadequately prepared to handle the process for patients with autism spectrum disorders. As the population of transition-age youth with autism spectrum disorders continues to grow, there is urgent need to understand how to best implement transition policies that promote early communication between providers and families and track outcomes among transitioning patients with special health care needs.

(Jun; Vol. 173(6) 2019)

(May; Vol. 173(5) 2019)

(Apr; Vol. 76(4) 2019)

(March; Vol.125 2017)

Environmental Health PerspectivesConclusions suggesting assoication of higher levels of some organochlorine compounds during pregnancy with Autism Spectrum Disorders and Intellectual Disabilities.

(March; Vol. 38 2017)

Annual Review of Public Health — Discussion of future challenges and goals for ASD epidemiology as well as public health implications.

( 2016)

KQED Radio — One BAAC Member shares her a short perspective and has also recently published a book titled, Beyond Rain Man: What One Psychologist Learned Raising a Son on the Autism Spectrum.
Anne K. Ross is the pen name for an award-winning writer and school psychologist with three decades of experience working in public schools in Northern California. She holds a master’s degree in educational psychology, a Ph.D. in clinical psychology, and an MFA in creative writing. She is a past winner of an American Psychological Association dissertation research award, and she has published in professional and literary journals. Her creative writing has been nominated for a Pushcart Prize and a Lambda Literary Award. She is the mother of two young adult sons.

(January 2016)

UCSF News Center — A team of scientists including BAAC Member, Matt State, MD, PhD, have discovered that estrogens reverse a striking behavioral abnormality in zebrafish carrying mutations in a gene known to cause autism in humans which may also help explain lower autism susceptibility in girls. Read more.

(November 2015)

Spectrum — California Department of Public Health Epidemiolgist and BAAC Member, Gayle Windham, Ph.D. discusses prenatal hormone exposure among children with autism.

(September 2015)

Molecular Autism — Stanford researchers, Kaustubh Supekar and Vinod Menon, attempt to characterize neuroanatomical differences underlying the distinct behavioral profiles observed in girls and boys with ASD.

(February 2015)

Molecular Psychiatry — A wonderful example of a Bay Area collaborative project involving 3 BAAC members examining whether maternal copy number variants (CNVs) contribute to autism spectrum disorders.

(January 2015)

Epidemiology — BAAC Member, Gayle Windham investigates the relation between traffic-related air pollution and autism.

(September 2014)

Autism Research and Treatment — BAAC Member Jennifer Yu helps explore disability identification and self-efficacy.  These two subjective factors are critical for the developmental and logistical tasks associated with emerging adulthood. This study uses data from the National Longitudinal Transition Study 2 to examine the prevalence and correlates of disability identification and self-efficacy among college students on the autism spectrum

(June 2014)

UCSF Website — Article discussing implications of a collaborative research project between researchers at the Universtity of California, San Francisco and the California Department of Public Health studying the genetic basis and risk of Autism Spectrum Disorder.

(June 2014)

UCSF NewsletterBAAC Member, Stephen Bent and other UCSF researchers have completed the first Internet-based clinical trial for children with autism, establishing it as a viable and cost effective method of conducting high-quality and rapid clinical trials in this population.

(February 2014)

Science Daily — By CHORI researchers, Rhonda Patrick, Ph.D.& Bruce Ames, Ph.D. 

(October 2013)

Video — Lisa Croen, Ph.D., from the Northern CA Kaiser Permanente Division of Research, presents, "The Epidemiology of Autism: Genetic and Environmental Interplay" at the Inaugural Symposium for the Wendy Klag Center for Autism & Developmental Disabilities.

(August 2013)

San Jose Mercury News — Story featuring Stanford researcher Dr. Teresa Iuculano.

(June 2013)

Los Angeles TimesScience Now story featuring Stanford researcher Dr. Lucina Uddin.

(June 2013)

NPR broadcast — Featuring Stanford researcher Dr. Vinod Menon.

(June 2013)

Time Magazine — Story featuring Stanford researcher Dr. Vinod Menon.

(Spring 2012)

Stanford Medicine Newletter — Special Report

(April 2012)

Youtube — Video featuring Lisa Croen, PhD.

(July 2011)

NPR broadcast — Featuring Stanford researcher, Dr. Joachim Hallmayer.