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The risk increased with labor epidural analgesia alone and labor epidural analgesia and oxytocin, compared with no exposure. HealthDay News — Maternal labor epidural analgesia (LEA) was associated with an increased risk for autism spectrum disorder (ASD) among offspring, according to a study published online July 21 in JAMA Network Open. Chunyuan Qiu, M.D., from Kaiser Permanente Baldwin Park Medical Center in California, and colleagues examined the independent associations of LEA and oxytocin during labor and delivery with ASD using data from 205,994 singleton births with vaginal deliveries in a single integrated health care system from 2008 to 2017. Children were followed through Dec. 31, 2021. Within the cohort, 153,880 and 117,808 children (74.7 and 57.2%, respectively) were exposed to maternal LEA and to oxytocin during labor and delivery. Researchers found that during follow-up, 5,146 (2.5%) had ASD diagnosed. Oxytocin exposure was higher among LEA-exposed than LEA-unexposed children (67.7 vs 26.1%). The risk for ASD associated with LEA was independent of oxytocin exposure (hazard ratio, 1.28; 95% confidence interval [CI], 1.18 to 1.38). After adjustment for LEA exposure, the risk for ASD associated with oxytocin was not significant (hazard ratio, 1.05; 95% CI, 0.99 to 1.12). There was a significant interaction observed for LEA and oxytocin on child ASD risk. Hazard ratios were 1.20 (95% CI, 1.09 to 1.32) for LEA alone and 1.30 (95% CI, 1.20 to 1.42) for LEA and oxytocin compared with no exposure, while the hazard ratio for oxytocin alone was not increased (0.90; 95% CI, 0.78 to 1.04). “Public benefit and risk need to be considered when selecting medical interventions given the benefits of LEA and oxytocin for labor and labor pain management and relatively low incidence and multifactorial risk factors for ASD,” the authors write. Full Article

Greater neighborhood disadvantage and lower household income were linked to microstructural differences, with link partly due to obesity and cognition. HealthDay News — Lower socioeconomic status (SES) is associated with children’s white matter microstructure, according to a study published online June 27 in JAMA Network Open. Zhaolong Adrian Li, from the Washington University School of Medicine in St. Louis, and colleagues conducted a cross-sectional study using baseline data from participants in the Adolescent Brain Cognitive Development (ABCD) study to examine whether and how neighborhood and household SES are independently associated with children’s white matter microstructure. A total of 8,842 children in the ABCD study were included in the analyses. Researchers found that greater neighborhood disadvantage was associated with lower restriction spectrum imaging restricted normalized directional (RSI-RND) diffusion in the left superior longitudinal fasciculus and forceps major. There was an association seen for lower parental education attainment with lower RSI-RND in the bilateral superior longitudinal fasciculus and bilateral corticospinal or pyramidal tract. The associations between SES and RSI-RND were partially explained by lower cognitive performance and greater obesity. In most tracts, lower household income was associated with higher RSI-restricted normalized isotropic (RNI) diffusion. Lower parental educational attainment was associated with higher RSI-RNI in the forceps major. These associations were partly explained by greater obesity. “In this large cross-sectional study, neighborhood and household socioeconomic adversity were independently associated with white matter microstructural differences in children,” the authors write. “These associations were partially explained by obesity and cognition.” Full Article

The Conversation — Anxiety disorders are common among Australian children, affecting nearly 7% of those aged 4–11 years. Children’s fears can focus on areas such as being alone, talking to strangers or going to sleep. In small amounts these fears can be helpful for survival; in large amounts they can become overwhelming and impairing. Childhood is the ideal time to treat these problems before they become severe, protracted or lead to other disorders. A variety of child anxiety treatments are on offer, yet not all treatments are the same or should be considered equal. So how do you face the daunting task of deciding which is best for your anxious child? First, Does My Child Need Help? The first step is to work out if your child needs treatment. It’s normal for children to experience irrational fears that pass with time. For example, many children and adults are more fearful of spiders than they should be, based on the level of danger. The main factor that determines whether a child has “clinical anxiety” is the extent to which the fear causes problems in their daily life. If a child who is fearful of spiders, for example, has ongoing trouble leaving home or sleeping because of their fear, they may need extra help. In younger children, anxiety can be seen as more cautious or avoidant behavior, which is especially visible when they are in unfamiliar situations. Keep in mind that anxious children often do not draw attention to themselves and can “go under the radar.” For example, anxious children are often quiet and well behaved at school, so teachers may not be aware they are struggling. Many anxious children also unfortunately experience other mental health problems, particularly depression, so it’s important to keep an eye out for other issues as well. What is the Best Treatment for My Anxious Child? Psychotherapy (talking therapy) for child anxiety can be highly effective. A therapist should empathize with your child and assess how their anxiety began and how it effects their life. Different health professionals may emphasize different ways to understand and treat a child’s anxiety, often using the approach they are more familiar with or trained in. Children can respond differently to these treatments, so you need to listen to what they find helpful. For example, a family systems therapist may focus on how family dynamics and communication impact on a child’s mental health. Some therapists focus on developing mindfulness skills, teaching children to observe and accept their anxious thoughts and feelings rather than responding to them. Different treatments have varying levels of evidence. Keep in mind that people often report some benefit from any treatment (like a “placebo effect”), so you need to work out what works best overall. With that said, treatments that teach children skills to manage their anxiety, such as cognitive behavior therapy (CBT), tend to be most effective. What is Cognitive Behavior Therapy? Cognitive behavior therapy (CBT) is a broad range of treatments based on the interaction between your child’s thoughts, feelings and behaviors. Therapists encourage children to alter the way they think, which can change how they behave and feel. CBT programs have been developed and tailored for anxious children and their families, such as the Cool Kids program. These treatments have been rigorously tested and are known to work for many children. CBT is also freely available online and this can be an easy way to access and try treatment for example, Fear-Less Triple P Online. These treatments teach the same CBT skills, however, they are delivered and assessed using an online platform, meaning treatment can take place at home. Does My Child Need Medication? Antidepressant medications can be highly effective for childhood anxiety but can also cause side effects, so they are often used when psychological therapies have not been effective. Their use should be monitored by a doctor. What Else Can I Do? Doing simple things, such as improving your child’s diet, sleep and exercise can have a big effect on their mental health. It’s important to be supportive and listen to your child when they are distressed, while encouraging them to face their fears. Their fears may seem silly to you, but they are very real for them. You may also want to involve your child’s school in their treatment, so teachers and parents are on the same page. Like most services, you may need to shop around to find a mental health professional and treatment that suits you and your child. A psychologist with specific clinical training, experience in CBT and child anxiety can be a good place to start. Doing some research or seeking a referral is definitely worth the effort. Is My Child Getting Better? The main way to know if your child is getting better is if they are resuming their normal life. Remember the goal of treatment is not for your child to be completely free of anxiety; it’s to help them manage their anxiety so they still live a full life. Childhood anxiety is distressing for your child and for the whole family, however, there is reason to be hopeful: there are effective treatments and these problems often pass with time. It may be a journey, but work with your child and skilled health professionals and you will find the help your family needs.

Highest prevalence of 4 or more adverse childhood experiences identified among females, adults aged 25 to 34 years, and adults with less than a high school education. HealthDay News — The prevalence of individual and total adverse childhood experiences (ACEs), defined as preventable, potentially traumatic events, varies by jurisdiction and sociodemographic characteristics, according to research published in the June 30 issue of the U.S. Centers for Disease Control and Prevention Morbidity and Mortality Weekly Report. Elizabeth A. Swedo, M.D., from the CDC in Atlanta, and colleagues used 2011 to 2020 Behavioral Risk Factor Surveillance System data to provide estimates of ACEs prevalence among U.S. adults in all 50 states and the District of Columbia. The researchers found that 63.9 and 17.3 percent of U.S. adults reported at least one ACE and reported four or more ACEs, respectively. Experiencing four or more ACEs was most common among females and adults aged 25 to 34 years (19.2 and 25.2 percent, respectively), non-Hispanic American Indian or Alaska Native adults and non-Hispanic multiracial adults (32.4 and 31.5 percent, respectively), adults with less than a high school education (20.5 percent), and those who were unemployed or unable to work (25.8 and 28.8 percent, respectively). There was considerable variation observed in the prevalence of experiencing four or more ACEs across jurisdictions, from 11.9 to 22.7 percent in New Jersey and Oregon, respectively. “CDC has released prevention resources to help provide jurisdictions and communities with the best available strategies to prevent violence and other [adverse childhood experiences], and with guidance on how to implement those strategies for maximum impact,” the authors write. Full Article

Concerns about mental health and substance use remain elevated three years after the onset of the COVID-19 pandemic, with 90% of U.S. adults believing that the country is facing a mental health crisis, according to a recent KFF/CNN survey. The pandemic has affected the public’s mental health and well-being in a variety of ways, including through isolation and loneliness, job loss and financial instability, and illness and grief. Over the course of the pandemic, many adults reported symptoms consistent with anxiety and depression, with approximately four in ten adults reporting these symptoms by early 2021, before declining to approximately three in ten adults as the pandemic continued (Figure 1). Additionally, drug overdose deaths have sharply increased – largely due to fentanyl – and after a brief period of decline, suicide deaths are once again on the rise. These negative mental health and substance use outcomes have disproportionately affected some populations, particularly communities of color and youth. As the end of the declaration of the public health emergency nears – on May 11, 2023 – many people continue to grapple with worsened mental health and well-being and face barriers to care. Mental health and Substance use This brief explores mental health and substance use during, and prior to, the COVID-19 pandemic. We highlight populations that were more likely to experience worse mental health and substance use outcomes during the pandemic and discuss some innovations in the delivery of services. We analyze and present findings using the most recent data available at the time of this publication – including the Household Pulse Survey and the CDC WONDER database. Key takeaways include: Symptoms of anxiety and depression increased during the pandemic and are more pronounced among individuals experiencing household job loss, young adults, and women. Adolescent females have also experienced increased feelings of hopelessness and sadness compared to their male peers. Deaths due to drug overdose increased sharply across the total population coinciding with the pandemic – and more than doubled among adolescents. Drug overdose death rates are highest among American Indian and Alaska Native people and Black people. Alcohol-induced death rates increased substantially during the pandemic, with rates increasing the fastest among people of color and people living in rural areas. After briefly decreasing, suicide deaths are on the rise again as of 2021. From 2019 to 2021, many communities of color experienced a larger growth in suicide death rates compared to their White counterparts. Additionally, self-harm and suicidal ideation has increased faster among adolescent females compared to their male peers. Several changes have been implemented in the delivery of mental health and substance use services since the onset of the pandemic, including the utilization of telehealth, steps to improve access to treatment for opioid use disorders, expansion of school-based mental health care, and the rollout of the 988 crisis line. As the public health emergency declaration comes to an end, it is possible that some of these changes will be interrupted. Prevalence of Mental Illness and Substance Use During the Pandemic Anxiety and depression The pandemic was associated with a high prevalence of anxiety and depression symptoms in adults. Research suggests that these symptoms increased during the pandemic, but the extent of this increase is unclear.1 Throughout the pandemic, symptoms of anxiety and depression have been more pronounced among several populations. For example, individuals experiencing household job loss were more likely than their counterparts to report symptoms of anxiety and/or depression (53% vs. 30%) in February 2023 (Figure 2). Job loss and unemployment – which have long been associated with adverse mental health outcomes – increased substantially early on in the pandemic. Fifty percent of young adults (ages 18-24) reported anxiety and depression symptoms in 2023, making them more likely than older adults to experience mental health symptoms (Figure 2). Young adults have experienced a number of pandemic-related consequences – such as closures of universities, transitioning to remote work, and loss of income or employment – that may contribute to poor mental health. Additionally, young adults in college settings may encounter increased difficulty accessing treatment. Symptoms of anxiety and/or depression were also elevated among women (36%) compared to men (28%) in February 2023 (Figure 2). Even before the pandemic, women were more likely than men to report mental health disorders, including serious mental illness. Concerns about youth mental health further increased with the onset of the pandemic and the recent uptick in gun violence. In a recent KFF/CNN survey, roughly half of parents (47%) said the pandemic had a negative impact on their child’s mental health, including 17% who said it had a “major negative impact”. Poor mental health has been more pronounced among adolescent females in particular. As shown in Figure 3, the gap in the share of adolescent females and males reporting feelings of hopelessness and sadness – symptoms indicative of depressive disorder – widened from 2019 (47% vs. 27%, respectively) to 2021 (57% vs. 29%, respectively). Many female adolescents also reported adverse experiences in 2021, which can negatively impact mental health. Source: Kaiser Family Foundation (full article)

Peaks in suicidality were seen in April and October, and a nadir in July; seasonal patterns were disrupted coincident with school closures in spring 2020. HealthDay News — Seasonal patterns are seen in suicidality among children and adolescents, with peaks in April and October and a nadir in July, according to a study published online July 19 in JAMA Network Open. Youngran Kim, Ph.D., from the University of Texas Health Science Center at Houston, and colleagues examined recent trends in suicidality rates and quantified the seasonality in suicidality in a population-based, descriptive cross-sectional study using administrative claims data. Participants included children aged 10 to 12 years and adolescents aged 13 to 18 years. A total of 73,123 emergency department visits and hospitalizations for suicidality reported between 2016 and 2021 were included in the analysis. The researchers found that the mean annual incidence of emergency department visits and hospitalizations for suicidality was 964 per 100,000 children and adolescents, which increased from 760 to 1,006 per 100,000 from 2016 to 2019, then decreased to 942 per 100,000 in 2020 and increased to 1,160 per 100,000 in 2021. Peaks were seen in April and October compared with January (incidence rate ratios, 1.15 and 1.24, respectively), while there was a nadir in July during pre-COVID-19 years and in 2021 (incidence rate ratio, 0.63). Coincident with school closures, seasonal patterns were disrupted during the spring of 2020 and the lowest rates were exhibited in April and May. “We cautiously interpreted the unexpected decrease in suicidality rates during the school closures in spring 2020 as further support for the association between the school calendar and suicidality among children and adolescents,” the authors write. Full Article

HealthDay News — Lower maternal fiber intake during pregnancy is associated with an increased risk for neurodevelopmental delay in offspring, according to a study published online July 27 in Frontiers in Nutrition. Kunio Miyake, Ph.D., from the University of Yamanashi in Chuo, Japan, and colleagues examined the association between maternal dietary fiber intake during pregnancy and neurodevelopmental delay in offspring using data from 76,207 mother-infant pairs in a nationwide prospective cohort study. A food frequency questionnaire administered in midpregnancy was used to estimate maternal dietary fiber intake, which was classified into quintiles. The association between dietary fiber intake and developmental delay, measured in 5 domains at the age of 3 years, was assessed. Researchers found that compared with the highest intake group, the lowest intake group of total dietary fiber had a significantly increased risk for delayed communication, fine motor, problem-solving, and personal-social skills (adjusted odds ratios, 1.51, 1.45, 1.46, and 1.30, respectively). A similar trend was seen in an analysis that excluded the effects of insufficient folic acid intake during pregnancy. “Most pregnant women in Japan consume far less dietary fiber than what is the recommended intake; thereby, this maternal nutritional imbalance during pregnancy may adversely affect the neurodevelopment of their offspring,” the authors write. “Nutritional guidance for pregnant mothers is crucial to reduce the risk of future health problems for their children.” Full Article

Although research has demonstrated that physicians continue to be the most respected source of medical information for patients, they also frequently search the internet for information prior to an office visit.1 Ease of access to medical information websites and the significant growth in the amount of health information available means that patients can find information in a matter of seconds. However, not all of the information provided by medical information websites is reliable, which has the potential to significantly affect both patient care and public health. How Do Patients Seek Health Information? Once, physicians were the primary gatekeepers of reliable health information. Over time, this role has evolved to include such media as print, television, and radio, and now, the internet. Today, patients can access health information in a number of ways, including: Health care professionals (physicians, nurses, pharmacists, and other health care professionals) Friends and family Social media (eg, YouTube, Twitter, Facebook, and TikTok) Medical information websites (WebMD, Mayo Clinic, and Cleveland Clinic, among others) Health apps, including various fitness, nutrition, or mental health apps Television and radio As access to the internet has become more widespread over the past 20 years, researchers have documented the shift in patient health information-seeking behavior to include more online sources.2 More than two-thirds of people who use the internet use it to search for health information. Most of these users search using a general search engine, such as Google or Bing, instead of starting their search on a dedicated medical information website.3 Social media serves as a source of health information shared by not only friends and family, but also the pharmaceutical industry and news media, among others. In research conducted recently, social media was determined to be one of the top 10 ways online health information is spread. Why Do Patients Visit Medical Information Websites? Although searching for health information on the internet has been increasing over the past 20 years, the COVID-19 pandemic contributed to significant growth in this behavior. Without easy access to in-person medical advice, people turned to the internet for health information. A study conducted by researchers in Italy revealed that during the COVID-19 pandemic, the internet — not physicians — was the main source of health-related information. Additionally, one-third of people were found to have increased their health information-seeking behaviors during this time. Other factors that could contribute to this phenomenon include long wait times for in-person medical visits and the high cost of health care.

August 15, 2023 More than 50% of those with systemic autoimmune rheumatic diseases had never/rarely reported mental health symptoms to clinicians. HealthDay News — The prevalence of all self-reported neuropsychiatric symptoms is significantly higher in those with systemic autoimmune rheumatic diseases (SARDs) vs controls, according to a study published online July 27 in Rheumatology. Melanie Sloan, Ph.D., from the University of Cambridge in the United Kingdom, and colleagues examined a wider range of potential neuropsychiatric symptoms in SARDs than have been reported previously using data from 1,853 SARD patients, 463 controls, and 289 clinicians as part of the INSPIRE research project. A total of 113 in-depth interviews were analyzed thematically. The means of survey items were compared between patients and controls, 8 different SARD groups, and clinician specialties. Researchers found that compared with controls, SARDs had higher self-reported prevalence rates of all 30 neuropsychiatric symptoms investigated, including cognitive, sensorimotor, and psychiatric. Of SARD patients, validated instruments revealed that 55 and 57% currently had depression or anxiety, respectively. Limits to knowledge, guidelines, objective tests, and interspecialty cooperation; subjectivity, invisibility, and believability of symptoms; and under-eliciting, under-reporting, and under-documenting were barriers to identifying neuropsychiatric symptoms. The proportion of clinicians who reported never/rarely asking patients about mental health symptoms was much lower than the percentage of patients who reported never/rarely being asked in clinic (4 vs 74%). More than 50% of SARD patients had never/rarely reported their mental health symptoms to clinicians, which was underestimated by clinicians at less than 10%. “The low level of reporting we identified is a major concern as problems with mental health, fatigue, and cognition can be life-changing, and sometimes life-threatening,” Sloan said in a statement. Several authors disclosed ties to the pharmaceutical industry. Full Article

Brain A large brain imaging study of adults with six different psychiatric illnesses shows that heterogeneity in regional gray matter volume deviations is a general feature of psychiatric illness, but that these regionally heterogeneous areas are often embedded within common functional circuits and networks. The findings suggest that "targeting brain circuits, rather than specific brain regions, may be a more effective way of developing new treatments," study investigator Ashlea Segal told Medscape Medical News. The findings also suggest that it's "unlikely that a single cause or mechanism of a given disorder exists, and that a 'one-size-fits-all' approach to treatment is likely only appropriate for a small subset of individuals. In fact, one-size-doesn't-fit-all. It probably doesn't even fit most," said Segal, a PhD candidate with the Turner Institute for Brain and Mental Health's Neural Systems and Behaviour Lab at Monash University in Australia. "Focusing on brain alterations at an individual level allows us to develop more personally tailored treatments," Segal added. Regional heterogeneity, the authors write, "thus offers a plausible explanation for the well-described clinical heterogeneity observed in psychiatric disorders, while circuit- and network-level aggregation of deviations is a putative neural substrate for phenotypic similarities between patients assigned the same diagnosis." The study was published online August 14 in Nature Neuroscience. Beyond Group Averages For decades, researchers have mapped brain areas showing reduced gray matter volume (GMV) in people diagnosed with a variety of mental illnesses, but these maps have only been generated at the level of group averages, Sega l explained.

Psychostimulants The off-label prescribing of psychostimulants for patients with stimulant use disorder could reduce harms that result from the use of illegal stimulants, according to a new commentary. Unregulated drugs are contributing to an ongoing crisis of poisonings in Canada, write the authors. Although many of the poisonings are related to synthetic opioids, such as fentanyl, the use of stimulants is increasing, too. In nearly half of all opioid deaths in Canada in 2022, a stimulant was also detected. "Prescribed psychostimulants like methylphenidate and dextroamphetamine have been shown to reduce craving for and use of cocaine and methamphetamine," Heather Palis, PhD, one of the authors of the commentary, told Medscape Medical News. "For people using these drugs for energy, to stay awake, for focus, concentration, or attention, the prescribed stimulant can offer a similar effect and reduce the need to seek out cocaine or methamphetamine for these effects." Palis is a postdoctoral fellow in psychiatry at the University of British Columbia in Vancouver. No Approved Treatments Accumulating evidence from clinical trials in Europe, Australia, and the United States supports the treatment of stimulant use disorder with prescription psychostimulants. No pharmacologic treatments for stimulant use disorder are currently approved in Canada, however, according to the authors. Despite a federal directive to promote increased access to pharmaceutical-grade alternatives to the contaminated drug supply, British Columbia (BC) is the only province to implement a Safer Supply Policy Directive and risk mitigation guidance for prescribing psychostimulants to people at risk of overdose. Even so, "in the first year of implementation in BC, prescribed psychostimulant medications reportedly reached 1220 people, reflecting less than 3% of people estimated to have stimulant use disorder," write the authors. The failure to prescribe psychostimulants more widely may be explained partly by safety concerns and the fact that "the evidence base for pharmacologic treatment of stimulant use disorder is newer than for pharmacologic treatments of other substance use disorders," suggest the authors. Nevertheless, there is still adequate evidence to support this approach, Palis told Medscape. "Clinical trials have demonstrated the safety and effectiveness of prescription psychostimulants for people who use cocaine and for people who use methamphetamine. These trials have included a number of drugs, including modafinil, methylphenidate, and amphetamine drugs, including mixed amphetamine salts, lisdexamphetamine, and dextroamphetamine," she said. "People have differing preferences for medication effects and duration of action, and a range of medications will be needed to meet these diverse patient needs." Palis also emphasized the need for a continuum of care and services. "There is no one-size-fits-all approach. Prescribing psychostimulants is just one option across a continuum of interventions that could be offered. This practice could play a role in helping the growing number of patients who are seeking to reduce their reliance on the illegal stimulant supply during the ongoing unregulated drug poisoning crisis." Breaking Barriers Commenting on the authors' suggestions for Medscape, Elaine Hyshka, PhD, Canada research chair in health systems innovation at the University of Alberta's School of Public Health, in Edmonton, said, "I strongly agree with the need to expand prescribed psychostimulants as a harm reduction measure and think that the authors provide reasonable recommendations for a path forward." Hyshka, who until recently served as co-chair of Health Canada's Expert Advisory Group on Safer Supply, said that barriers must be addressed to scale up access to prescription psychostimulants. For example, the long-standing policy of limiting prescriptions of psychoactive medications (which was intended to prevent iatrogenic addiction) does not reflect the highly toxic, illegal drug market and the increasing mortality from drug poisoning. "Developing expert clinical guidance for prescribing psychostimulants will help regulators align their oversight with the best available evidence," she said. "I would also like to see more national collaboration amongst regulators, clinical experts, and provincial, territorial, and federal governments to facilitate expanded access to safer supply for those at risk of fatal drug poisoning, monitor outcomes, and adapt practice, as needed." In addition, current programs that demonstrate positive patient outcomes do not have stable operational funding. "While prescribers' services may be covered by provincial health plans, there is often a need to pay for uninsured medication costs, as well as nurses, outreach workers, and other staff that can help ensure care continuity and work towards addressing patients' other unmet health and social needs," said Hyshka. Alternate routes of medication administration also should be developed, she added. "Oral medications are unlikely to meet the needs of all people who are currently using illegal psychostimulants, and we should be developing and evaluating pharmaceutical-grade drugs that can be safely consumed via inhalation, and potentially other routes of administration."

Prenatal Screening Autism is highly heritable—but is it a disease? Should it be cured? Could screening for it lead to eugenics? We explore the complicated landscape. In 2021, the Autism Research Centre at the University of Cambridge announced Spectrum 10K, a plan to collect and analyze the genomes of 10,000 autistic people. The stated aim was to understand diversity among autistic people, including why some have conditions like epilepsy and ADHD, and to develop more personalized ways to help each autistic individual. Wary of potential criticism, members of the study wrote on their website, “The Spectrum 10K team views autism as an example of neurodiversity and is opposed to eugenics or looking for a cure for preventing or eradicating autism itself.” Nevertheless, criticism came. . David Gray-Hammond, an autistic consultant and the author of The New Normal, heard about the project and helped assemble a group called Boycott Spectrum 10K. Together they wrote a statement outlining their concerns, including fears that the research could lead to prenatal testing and abortions. They gathered signatures and sent it to the Health Research Authority, the U.K.’s regulator for medical studies. They also demonstrated outside the Autism Research Centre, holding signs that said, “AUTISTIC PRIDE” and “HANDS OFF OUR DNA.” “The atmosphere was definitely one of anger that we were being ignored, but solidarity that we were there together defending ourselves and our community,” Gray-Hammond says. Amid the outcries, including from activists within the community known as “autistic self-advocates,” the Autism Research Centre stopped recruitment and data collection. Less than three weeks after announcing the initiative, its director posted an apologetic letter to the study’s site announcing a pause. When does parental choice become eugenics? That does not mean research into the genetics of autism has stopped completely, or that universities and companies are no longer developing prenatal tests for autism. Both efforts are progressing apace. And as new services enter the market and the clinic, new questions will arise. They will join pressing ones already asked: What is a disease? When does parental choice become eugenics? How can autism researchers and autism self-advocates best work together? The power to decide who gets to be born and who doesn’t will always seem like a technological gift to some but a cruel curse to others. And if you make that choice, are you playing God or simply being a responsible parent? No single “autism gene” or profile Autism is often used by the public as an “umbrella term” covering many types of developmental delays, learning disorders, and intellectual disabilities, says Robert Green, a medical geneticist at Mass General Brigham in Boston. The two most defining characteristics of autism spectrum disorder (ASD) are repetitive behaviors and problems with communication. Special education professor Stephen Shore famously said, “If you’ve met one person with autism, you’ve met one person with autism.” There is no objective diagnosis; a clinician must use judgment to evaluate each individual’s behavior and context, and autism is highly variable. Some autistic people require full-time care into adulthood while others live independently. Some have learning disabilities while others don’t. Some are savants and wildly successful tech entrepreneurs. Many suffer from things like digestive disorders or epilepsy while others don’t. ASD is highly genetically heritable—90 percent genetic by some accounts—but the picture is messy. Researchers have found hundreds of associated genes that control neurogenesis, synaptic function, cell structure, metabolism, and other functions, but even when combined they can account for only a small percent of all cases of autism. There are a number of challenges to studying the genetics of autism, including the wide range of behaviors, the complexity of the brain, the huge number of genes that contribute, and the lack of a perfect animal model. Environmental factors—including pollution, pesticides, and maternal inflammation, obesity, or infection—also have the potential to play a smaller role in autism through gene-environment interactions. For example, a paper last year found that the NHIP gene, which protects the brain against oxidative stress, was less active in fetuses who developed into children diagnosed with ASD. Autism rates are climbing quickly in the United States, increasing roughly 5-fold since 2000, from one in 150 8-year-olds to about 1 in about 30 today. Much of that is due to increased awareness and screening, but some may be attributable to gene-environment interactions, researchers say. In some cases, clinicians can predict whether a pregnancy has a high probability of leading to an autistic child. (In medical parlance, they’re high-risk pregnancies, but some autistic self-advocates object to the negative connotations of the term “high-risk” as applied to autism.) Prenatal genetic screening for conditions other than autism has become fairly routine. U.S. ob-gyns might do a genetic screening if a parent or sibling has a genetic condition, the mother is over 35, or something looks odd on an ultrasound. They might insert a needle into the abdomen or a catheter through the cervix to sample the amniotic fluid (in amniocentesis) or placenta (in chorionic villus sampling, or CVS). Fetal DNA is contained in both. They might then sequence the DNA and look for any of hundreds of single-gene mutations that can cause disorders such as cystic fibrosis, Tay-Sachs disease, and sickle-cell anemia. They might also do a chromosomal microarray analysis (CMA) to look for copy number variants (CNVs), in which a section of DNA is duplicated or deleted. John Pappas, a clinical geneticist and pediatrician at New York University, says that among children he sees who develop autism, he finds a genetic predisposition—including gene mutations, duplications, and deletions—in thirty to forty percent. It’s not always clear what to make of genetic predispositions before traits develop, though. Some structural variations in chromosomes reliably cause problems. “If it’s a really obvious one that’s well recognized, that’s one thing,” Green says. “If you have a deletion or duplication that overlaps with a known region but hasn’t been seen before in that exact configuration, you’re not often sure what to tell the mother.” “I wouldn’t trust it at this moment. I certainly wouldn’t terminate a pregnancy based on it.” According to Stephen Chasen, the director of obstetrical ultrasound at New York Weill Cornell Medical Center, “There’s no genotype that’s implicated in many, if not most, individuals who have ASD. And there’s not one single genotype. There are many, many different things that have been found.” Some clinics raise hope about autism detection, but “commercial labs have been overpromising a lot of things for many years,” Chasen says. Fetal DNA also circulates in the mother’s blood, which can be sampled for noninvasive prenatal testing (NIPT). Labs have used it to detect extra copies of chromosome 21, which can lead to Down syndrome. “They are starting to do screening for deletions or duplications of much smaller quantities of DNA, for conditions like DiGeorge syndrome, cri du chat, Wolf-Hirschhorn, Williams syndrome,” Chasen says. Noninvasive prenatal testing could someday play a role in screening for autism, but collecting DNA that’s clean enough to sequence is still a technical challenge, Green says. “I wouldn’t trust it at this moment. I certainly wouldn’t terminate a pregnancy based on it.” Other noninvasive tests could be on the horizon. A study published in Brain last year found that 29 percent of children diagnosed with autism had shown “ultrasonography fetal anomalies,” versus 16 percent of their closest-age siblings and 9 percent of the rest of the population. Anomalies associated with autism occurred in the brain, head, heart, and urinary system. Another study published last year looked at MRIs of fetuses. The development of autism was associated with enlargements in several brain regions: the amygdala, hippocampal commissure, and insula. While these studies are preliminary, they suggest that even if we have no genetic tests for autism in utero, it may be possible to develop a screen during pregnancy based on imaging biomarkers. Detection might happen even earlier in development. Some fertility companies do pre-implantation genetic testing of IVF embryos to provide polygenic risk scores—combinations of many mutations, duplications, and deletions associated with developmental outcomes. Companies include Genomic Prediction, Orchid, and MyOme. These tests can detect predisposition to diseases like cystic fibrosis or traits like deafness and dwarfism, or risk of developing cancer, cardiovascular disease, or mental illness. (Based on draft materials, MyOme also appears to have considered offering scores for educational attainment, household income, cognitive ability, and subjective wellbeing.) But polygenic testing for embryo selection faces difficulties and criticism. There might not be much variance among embryos from two parents, for one thing. Increasing the chance of a desired trait may increase the chance of an undesired one. The studies on which scores are based might not translate well to different patient populations. And they might not translate from adults to fetuses. Further, Green says, cells can repair mutations or abandon clones with mutations. “Let’s say you find a mutation in a cell from an embryo. You can’t be sure that that mutation is going to persist throughout the life of that fetus.” Testing might occur even before the embryonic stage. A 2021 study identified DNA methylation regions—places where genes had been switched on or off—that were more prevalent in the sperm of fathers with autistic children than in other men. A startup called Inherent Biosciences is building on the work to develop sperm tests. On the maternal side, Judy Van de Water, an immunologist at the University of California, Davis, has identified a set of eight antibodies in mothers that increase the risk of maternal autoantibody related autism (MARA) in offspring, a form of autism that tends to come with intellectual disability. She founded a startup called MARAbio to bring clinical tests to market. Difficult decisions What does such information enable hopeful parents to do? One outcome of prenatal screening could be to help parents prepare for an autistic child, and to meet their needs early, which can lead to better outcomes. A study published last year reported that of children diagnosed with autism before the age of 2.5, two in three showed reduced autism traits over the following year or two, while only one in four children diagnosed later showed such improvement. Other parents might decide to terminate their pregnancies if a prenatal test showed a high chance of autism. And this is where the genetics of autism become hugely controversial. Autism self-advocates have taken to calling examples of research aiming to cure autism eugenics, in reference to the long-discredited early 20th century notions of “genetic hygiene" and the heinous public health practices it informed like forced sterilization—or worse—largely associated with the Nazis but also practiced in the United States and throughout Europe in the 1920s. They also worry that uncovering ways to detect autism in utero or in an IVF embryo will lead to widespread screening, abandoned embryos, and terminated pregnancies. Those worries are not unfounded. 6 out of 31 who said they’d consider prenatal genetic testing for autism also said they would abort a fetus destined to develop ASD. In the case of Down syndrome, which is easier than autism to detect prenatally, parents abort nearly 100 percent of the time in Iceland and Denmark, as well as 90 percent of the time in the United Kingdom and an estimated 65 percent of the time in the United States. Would they handle certain autism diagnoses the same way? In one study of parents raising autistic children, 6 out of 31 who said they’d consider prenatal genetic testing for autism also said they would abort a fetus destined to develop ASD. (One of those was a mother who said her autistic son had punched out one of her molars when he was three.) In a study of 333 Taiwanese mothers of autistic children, half said they’d have an abortion if a test said they “might have a fetus with ASD.” NYU’s Pappas says that when it looks like a fetus will develop into a child with strong autistic traits, the parents he works with choose abortion about half the time, though that’s often because of other severe medical problems the child is also likely to have. He says parents wrestle with the decision. “I don’t know how good we are, but we strive to be nondirective and just provide information.” Chasen, of Weill Cornell, says that if parents already have one autistic child, he can look for genetic signatures in that child and see if they’re in the fetus. If they are, he says, most parents he sees typically end the pregnancy. “It’s not my business what the decision is,” he adds, “but it’s my business whether or not the decision is informed.” Uncertainty makes the decision more difficult. Parents can rarely know for sure if their child will have autism, what the traits will be, or how strongly the child will be affected. “We’re really operating, if not blindly, then in the dark here,” Chasen says. In his practice, people tend to decide based on the worst-case scenario. “They’ll never know whether it was the right decision or not, but what I’ve had pregnant individuals tell me is, ‘Well, that’s true, but if I continue the pregnancy, and it’s the wrong decision, I’m going to know that and I’m going to know it forever,’” he says. “That’s something that they and the family are going to have to live with.” One small study found that some women had lingering discomfort after receiving uncertain information. “‘Watchful waiting’ became the norm,” the researchers reported, “and concerns weren’t totally alleviated by normal sonograms or by delivering a child who appeared normal at birth and during infancy.” Abortion isn’t the only possible intervention. Chasen says that if he finds genetic markers of autism in a parent’s existing child, the parents sometimes use IVF and select an embryo without that genotype. Or if no marker is found, the parent might simply select a female embryo, as autism diagnosis is 3.8 times as prevalent in males. Andy Olson, the CEO and co-founder of Inherent Biosciences, says that diet, exercise, stress, and toxin exposure can affect sperm quality, so if one batch of sperm from a father shows differential DNA methylation in regions associated with autism, Olson might recommend that the father change his lifestyle for at least a few months before procreating. Michael Paul, the CEO of MARAbio, says that if a mother has maternal-autoantibody-related-autism antibodies but no known genetic markers of autism, the parents might decide to use a gestational surrogate, or begin therapy with their child as early as possible. The company hopes eventually to offer treatments that selectively degrade the MARA antibodies or prevent them from crossing the placenta. Research may lead to not only prevention of autism but targeted therapies. “Since autism is multifactorial,” Green says, “there will likely be specific treatments and possibly even cures for some forms, which you would not be able to differentiate without testing, including genetic testing.” Abortion, murder, and genocide In 2005, CNBC published an article titled “Autism research focuses on early intervention,” in which a researcher said that a prenatal test could be available within a decade. Meg Evans, an autism self-advocate, saw the article and wrote a blog post critiquing the motivation for such a test. She added a ten-year timer to the page and called it the “The Autistic Genocide Clock.” Six years later, she took it down, relieved that prenatal tests seemed more than four years away and that society had become more accepting of autism. In 2005, “most people knew very little about autism, and the media were full of sensational horror stories,” Evans says. “That has changed, thankfully.” Not as much as she and others would like, however. In 2012, a mother in Sunnyvale, California, shot and killed her 22-year-old autistic son and then herself. Media reports appeared to show sympathy for the mother’s struggles to care for her son. “I felt the voice of people with disabilities was really missing from this conversation,” says Zoe Gross, director of operations at the Autistic Self Advocacy Network (ASAN), “because to us, it’s very obvious that the tragedy isn’t that George was born autistic,” she says, referring to the murdered 22-year-old by his first name. “The tragedy is that he was murdered.” She started the Day of Mourning, an annual vigil to remember people with disabilities murdered by caregivers. “ASAN is opposed to the development of genetic tests for autism. We think that they’re unethical.” Last year, ASAN released a statement on genetic research and autism. “ASAN thinks that finding a ‘cure’ for autism is bad and probably impossible,” it reads. It notes concern about genetics research, saying, “We think this ‘cause research’ is just another kind of ‘cure’ research.” It goes on: “Instead of prenatal testing, we want to get rid of ableism.” It does not distinguish between people distant on the spectrum: “We do not believe that any autistic person needs to be ‘cured.’ This includes autistic people with the highest support needs.” The statement makes clear that “We support the legal right of any person to have an abortion for any reason,” but it warns against societal pressure to abort. “ASAN is opposed to the development of genetic tests for autism,” Gross says. “We think that they’re unethical. We think that the focus should be on helping autistic people live better lives.” In addition to difficulties with flexibility and social interaction, autism may co-occur with intellectual disabilities, mental health issues, neurological disorders, gastrointestinal problems, inability to communicate verbally or take care of oneself, and even violence toward oneself or others. (In high school, I worked with autistic people who wore bite guards on their arms.) Over a lifetime, caring for an autistic person can cost millions of dollars, which many families can’t afford. Yet some people take issue with calling autism a disease, disability, or disorder, instead calling it a healthy neurotype among humanity’s diversity. “In the autistic community, there’s a big push to have it recognized through the social model of disability,” Gray-Hammond, the autistic consultant, says. “Society presents obstacles that are difficult to circumvent.” According to Sam Farmer, a neurodiversity self-advocate and the author of A Long Walk Down a Winding Road, “We feel as though the rules in society that govern how we’re supposed to behave were not written with us in mind.” Advocates point out many strengths associated with autism, such as attention to detail and comfort with repetition. Farmer notes creativity, loyalty, analytical skills, honesty, hyper-focus, and empathy, and he names celebrities on the spectrum—Dan Aykroyd, David Byrne, Greta Thunberg—and others believed to have been—Albert Einstein, Isaac Newton, Ludwig van Beethoven. In 2021, Elon Musk famously revealed in front of a live television audience while hosting Saturday Night Live that he has ASD. “What kind of world would we live in without diversity in all of its forms?” Farmer says. Gray-Hammond notes autistic people’s strong sense of justice and their contributions to science and art. And even those who don’t achieve greatness, he says, “have just as much right to exist as the rest of us do.” Autism researchers have gone out of their way to allay advocates’ concerns, or at least to not aggravate them. When I asked a spokesperson at MyOme if she thought prenatal autism detection might be possible in the next few years, she replied, “No comment.” Spectrum 10K declined to comment on their work as they continued to consult with the autistic community. The organization Autism Speaks, which had previously merged with a group called Cure Autism Now, last year clarified on their site that “Autism Speaks does not support eugenics.” They did not reply to emails. “Information is valuable, no matter what,” Van de Water of MARAbio says, but still they won’t offer test rest results to currently pregnant women, at least until there’s a way to remove the effects of the MARA antibodies. Many proudly autistic people are on edge due to the trauma they’ve experienced through stigma. “When we look at a study like the one Harvard Medical School embarked on,” Farmer says, referring to the fetal MRI paper, “we get scared. Where is this headed? What’s the scientific community’s agenda? Is it an agenda of eugenics?” According to Gray-Hammond, “Knowing the genetic causes of autism almost always seems to segue into talks about prenatal testing. And we know what happened with prenatal testing for Down syndrome.” The advocates I spoke with are pro-choice, which puts them in a tricky spot. They support a woman’s right to choose, but seem to oppose science that informs that choice. Gray-Hammond acknowledges the conflict. “I think the contradiction comes from the fact that we’re a group of people who have spent our lives being told there is something wrong with us,” he says, “and so talk of prenatal testing—I think we internalize that. It almost feels like, Well, would we be here if our parents had the opportunity to abort us? It becomes personal.” “This puts me into an interesting dilemma,” Farmer admits. “As a pro-choice autistic, where do I go with this? What I see ahead is a struggle for neurodiversity-community advocates like me to make the argument to society.” He ponders a toned-down approach. Instead of telling society to stop studying the genetics of autism, maybe his aim should be merely to cultivate acceptance of autism. “Don’t be so quick to rush to judgment that this is a baby not worth having,” he says. Gray-Hammond strikes a similar pose. “I would ask anyone considering aborting a child purely because they might be autistic to think about whether that child has a right to exist based on disability,” he says. As for researchers, he’d ask them to think about their motivations. Do they want to reduce humanity’s diversity? But moral tensions remain. According to Gray-Hammond, “It’s a very complicated field that I feel will be debated in ethics probably for a much longer time than I am alive.” Editor’s note: This story was updated on 7/10/23 to correct the list of companies that provide polygenic risk scores of IVF embryos. __________________________________________________________________________________ Matthew Hutson is a freelance science writer in New York City who covers psychology, artificial intelligence, and other topics. He writes for The New Yorker, Science, Scientific American, and other publications, and is the author of The 7 Laws of Magical Thinking.