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Pediatrics

Finding the Signal in the Noise on Pediatric Gender-Affirming Care – The Hastings Center

Bioethics Forum Essay

The Cass Review of gender identity services for children and young people, a recent report in the U.K., has spurred many headlines and much debate, most of which tout the finding of weak evidence for gender-affirming care for children and teenagers. Advocates of such care reject the report as anti-trans, while critics hail it for finally outing such care as pseudoscience. However, much of the noise around gender-affirming care in pediatrics, and this report, is misleading and takes away from the substantive improvements needed to provide the best care for transgender youth, something noted in the reports thoughtful foreword.

The Cass report was commissioned by the U.K.s National Health Service to make recommendations on improving care for children and young people who are questioning their gender identity or experiencing gender dysphoria. The report made eight recommendations on treatment, two of them on medications: puberty blockers and hormones.

While gender-affirming care is not reducible to medications alone, they are the treatments most often singled out by critics. The report determined that the scientific evidence for puberty-blocking medications in youths needs improvement, expressing concern about the potential risks and questioning the benefits for most children. The report didnt say that puberty blockers should not be prescribed to children, but it concluded that they should only be prescribed as part of a clinical trial. The report said that masculinizing or feminizing hormones could be given to people starting at age 16, but it advised extreme caution.

I cant think of any other situation where we give life-altering treatments and dont have enough understanding about whats happening to those young people in adulthood, said Hillary Cass, the pediatrician who produced the report. This statement, and concerns raised in the report about lack of evidence, are misleading for two reasons.

First of all, most medications used in pediatrics lack long-term and pediatric-specific data, and so medicines for gender-affirming care are not exceptional in that regard. In fact, up to 38% of drugs used in pediatrics and 90% of those used for newborns are prescribed off-label and have had few studies performed on children. These off-label medications include antipsychotics, endocrine medications, and even some antibiotics.

Second, there is safety data on puberty blockers. They have been given to children for decades to treat conditions such as precocious puberty, in some cases for the indication of social distress related to early puberty. These drugs have been shown to be safe in prospective observational studies.

In looking for evidence Cass placed the greatest value on randomized controlled trials. In these studies, participants are randomly assigned to receive either an experimental treatment or a control treatment and then their outcomes are compared. RCTs are great when they are feasible and ethical. But they are not feasible for studying puberty blockers because the participants and researchers would know which group the participants were in when they either did or did not show pubertal changes. This knowledge could interfere with an unbiased scientific comparison of the outcomes.

Without RCTs on puberty blockers, Cass had to review other studies whose evidence she considered weak. But this does not mean a lack of benefit. Rather, it should prompt shared decision-making with clinicians, patients, and families discussing the proportionality of benefits and burdens.

Weighing the proportionality of benefit to burden from an intervention is a foundational calculus in ethical decision-making. It goes on every day in pediatrics without apparent controversy. Some arguments appeal to patient autonomythe rights and interests of the patient who wants a treatmentrather than to the treatments ability to reduce morbidity and mortality, as was discussed in an article in the current issue of the Hastings Center Report. Other arguments focus on what is in the best interest of the patient. But for many decisions in adolescent health, it is not a matter of choosing either/or but rather considering both the patients autonomy and best interest that is necessary. For example, life-and-death decisions involving serious illness in adolescents require respecting the adolescents autonomy and considering the medical teams and the parents assessments of the benefits and burdens, or beneficence and nonmaleficence, of those decisions.

Interestingly, in contrast to gender-affirming care, there seems to be relatively little public controversy over cosmetic surgery for teenagers. And yet in 2022 there were 23,527 cosmetic surgeries performed on teenagers in the U.S., including breast augmentation for both biologic cis males and females. These surgeries require the same decision-making process as other interventions for teenagers. But as far as we can tell, they receive less public scrutiny than gender-affirming care. There are no court cases against these surgeries or attempts by state governments to ban them despite legitimate questions about their benefits and burdens to adolescents and the fact that, unlike most gender-affirming interventions in youth, cosmetic surgeries are not reversible.

Issues around evidence in pediatrics are abundant, but gender-affirming care receives a disproportionate amount of public criticism. Resources are lacking for research that would provide more evidence on the safety and effectiveness of care in pediatrics, including gender-affirming care. The Cass report recognizes this problem and provides important guidance. The report does not support bans and criminalization of gender-affirming care, which has been the response by more than 20 U.S. states and is under review by the Supreme Court. On the contrary it calls for investment in and expansion of gender-affirming care: improved access, workforce education, and collaborative and coordinated services, along with infrastructure to ensure improved data collection and ongoing quality improvement to strengthen the evidence for various treatment options. While we disagree with the Cass reports assessment of the evidence for puberty blockers and hormone treatments, its overall recommendations should be heeded by critics of gender-affirming care if the goal of their critiques is truly to provide improved and beneficial care for young people.

Ian D. Wolfe, PhD, MA, RN, HEC-C, is director of ethics at Childrens Minnesota and affiliate faculty in the University of Minnesotas Center for Bioethics.

Justin M Penny, DO, MA, HEC-C, is an assistant professor in the Department of Family Medicine and Community Health at the University of Minnesota and a clinical ethics assistant professor in the Center for Bioethics.

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Finding the Signal in the Noise on Pediatric Gender-Affirming Care - The Hastings Center

Pediatrics

Should You Put Sunscreen on Infants? Not Usually – FDA.gov

Espaol

When you go outdoors with your infant, whether for a quick stroll in the park or a day at the beach, its important to keep your little one out of the sun. But should you put sunscreen on your baby to protect them from the suns bright rays? Not usually.

Your infants sensitive skin is vulnerable to serious burns. But sunscreen isnt the answer, according to the U.S. Food and Drug Administration. Thats because infants are at greater risk than adults of sunscreen side effects, such as a rash.

The FDA and the American Academy of Pediatrics (AAP) recommend keeping newborns and babies younger than 6 months out of direct sunlight. The best sun protection for these infants is to stay in the shade. Look for natural shade, such as under a tree. Or create your own shade under a beach umbrella, a pop-up tent, or a stroller canopy.

Its especially important to keep your baby out of the sun between 10 a.m. and 2 p.m., when the sun is at its strongest and ultraviolet (UV) rays are most intense. If you do need to be outside in the sun during those times, be sure to take extra precautions. And check with your pediatrician before applying sunscreen to children younger than 6 months.

The AAP suggests dressing infants in lightweight clothing, such as long pants and long-sleeve shirts. Babies should wear a hat with a brim that shades the neck to prevent sunburn. Not baseball caps, which dont shade the neck or ears, both of which are sensitive areas for a baby. And for fabrics, tight weaves are better than loose ones.

Summers heat presents other challenges for babies. Our sweat naturally cools us down when were hot. But younger babies dont sweat like adults do. Their bodies havent fully developed that built-in heating-and-cooling system, so they can become easily overheated and have a greater risk of becoming dehydrated.

Here are some things to keep in mind this summer when outside with infants younger than 6 months:

05/09/2024

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Should You Put Sunscreen on Infants? Not Usually - FDA.gov

Pediatrics

Researchers Show Injury Prevention Program Reduces Injuries in Young Children | Newsroom – UNC Health and UNC School of Medicine

The University of North Carolina at Chapel Hill was one of four academic medical centers on the study, which shows that an intervention program developed by the American Academy of Pediatrics can dramatically reduce injuries in young children.

CHAPEL HILL, N.C. Unintentional injuries are a leading cause of pain and death among young children. While injuries can range in severity from cuts and burns to drownings and poisonings clinicians agree that many are preventable.

A new study, led by researchers at Johns Hopkins Childrens Center and done in coordination with colleagues at four academic medical centers in the United States, shows that an intervention program developed by the American Academy of Pediatrics (AAP) can dramatically reduce injuries in young children. The findings were published April 1 in the journal Pediatrics.

This study shows that prevention counseling during regular checkups can play an important part in keeping young children safe and healthy, said Kori Flower, MD, MS, MPH, Division Chief and professor of general pediatrics and adolescent medicine at the UNC School of Medicine and a lead investigator at the research site at the University of North Carolina at Chapel Hill.

The Injury Prevention Program (TIPP) was developed by the AAP in 1983 and is used throughout the United States. The program provides pediatricians with guidelines on how to advise and educate parents about injury prevention, such as installing safety gates before children learn to walk to prevent falls.

While studies have shown that injury prevention programs can help parents gain knowledge and adopt safety practices, few studies have looked at whether this and other similar programs actually reduce injuries, as well as the type of injuries children experience or whether parents seek medical care.

To study TIPPs effectiveness, a research team led by Eliana Perrin, MD, MPH, the Bloomberg Distinguished Professor of Primary Care in the Department of Pediatrics at the Johns Hopkins University School of Medicine and School of Nursing, conducted a trial at four academic medical centers in the United States, including University of North Carolina at Chapel Hill, New York University/Bellevue Hospital Center, Vanderbilt University/Vanderbilt University Medical Center, and University of Miami/Jackson Memorial Medical Center.

At two of the centers, pediatrics residents were trained on TIPP and used the TIPP screening and counseling materials at all well-child checkups for patients from 2 to 24 months old. The two other centers did not use TIPP and instead implemented a separate, unrelated intervention program called the Greenlight Study. A total of 781 parent and infant pairs were enrolled in the study.

The majority of parents were Hispanic (51%) or Black (28%), and most were insured by Medicaid (87%).

Michael Steiner, MD, MPH, the Michael F. Durfee Distinguished Professor of Pediatrics and the Pediatrician in Chief at the UNC Childrens Hospital, made substantial contributions to the studys conception and design.

Researchers found that as children aged from 2 months to 24 months, the number of injuries reported also increased. For example, 9% of parents reported injuries since the last well-child check when their child was 6 months old, compared with 40% who reported injuries at 24 months.

The most common injuries reported were falls, other miscellaneous injuries, such as scratches, and burns. Injuries requiring medical attention also increased over the two years of life, but were only 16% of all reported injuries.

The findings also show that sites using TIPP reported significantly fewer injuries in young children with an estimated risk of reporting injuries across each of the well-child checkups of only 14% in the participants in the academic medical centers that used TIPP as opposed to more than double that (30%) in the control group. Researchers say their findings show that TIPP was able to significantly prevent injuries in young children, and that the benefits of TIPP improved as children got older.

From this large study, we learned that a relatively simple intervention in pediatric offices really helps parents keep their children safe, said Perrin, who was the first and corresponding author of the study. TIPP uses what we know about how children develop to tailor the advice we give to parents at each stage, and it works.

For media inquiries, contact Eliana Perrin, MD, MPH at (919) 593-2100.

Media contact:Kendall Daniels, Communications Specialist, UNC Health | UNC School of Medicine

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Researchers Show Injury Prevention Program Reduces Injuries in Young Children | Newsroom - UNC Health and UNC School of Medicine

Pediatrics

Discussing software that helps track progress after an autism … – Contemporary Pediatrics

Contemporary Pediatrics:

Can you explain what types of software are helping families after their child has been diagnosed with autism?

Lauren Lanzon, MSW, MA, BCBA:

Software and technology have come a long way since I first started in the field about 10 years ago. Back then, paper and pen data collection and graphing through Microsoft Exel was more the standard for Applied Behavior Analysis (ABA). Now, platforms like CentralReach are able to do all of this and more through their system.

This allows us to streamline multiple processes, and now, with CR Care Coordinator, even parent education and training can take place through an online system. Whats so helpful about this is that parents can access specific ABA training and learn how to potentially manage behaviors, teach skills, and navigate daily routines and changes with their children who carry an autism spectrum disorder (ASD) diagnosis.

So, in this sense, technology is not only evolving and helping providers, but is now taking a step further to be a great resource for families as well.

Contemporary Pediatrics:

What questions can parents or caregivers ask their general pediatrician when it comes to this software?

Lanzon:

Receiving a diagnosis of ASD can be a daunting and challenging experience for some families. Then, even once a diagnosis is obtained, getting access to evidence-based and effective treatment like Applied Behavior Analysis can sometimes take a significant amount of time.

Families have to navigate insurance policies, waiting lists, and sometimes years of time between a diagnosis and treatment. In this interim, valuable skill development opportunities are often missed, and families are left on their own to manage sometimes significant challenging behaviors like aggression or self-injurious behaviors.

What parents need to ask, or even better yet, what a pediatrician should share with families, is that tools like CR Care Coordinator are out there and available to help them during this time.

Here at Carolina Behavioral Innovations (CBI), we believe parents are the best advocates for their children and asking questions about online resources and training materials to their pediatricians can help them gain access to this kind of technology to assist them in navigating their daily lives before, during and after ABA treatment.

Contemporary Pediatrics:

How important is it (or how helpful can it be) for families to have a tool like this when it comes to autism?

Lanzon:

Extremely helpful! Applied behavior analysis is a science; it can be technical, confusing, and not always intuitive to a parent or caregiver. However, it is evidence based and when implemented correctly, can be extremely effective in teaching skills and managing challenging behaviors.

At CBI, we really emphasize parent training because empowering and giving our parents skills to teach promotes consistency and generalization of skills. Tools like CR Coordinator help to train parents, at the core, to be able to implement ABA strategies independently. Its lessons can help parents understand the function a challenging behavior may be serving for their child so they can respond to it.

It can help them teach their child how to communicate effectively, through various modalities, to get their wants and needs met. It can help explain to them how to teach their child daily living skills like handwashing or getting ready for school or crossing the street safely.

It can even help them navigate other logistical challenges like understanding their rights as consumers, how to manage stress, or simply to understand the ASD diagnosis.

I would consider all of these to be critical and necessary skills for any family who has a child with an ASD diagnosis.

Contemporary Pediatrics:

Can you explain the market for software like this, or other similar tools? Should the use of these types of tools be discussed with the pediatrician, or what do you recommend to the parents looking into this?

Lanzon:

To be transparent, Im not super familiar with other options that are similar to CR Care Coordinator. I believe there may be perhaps 1 other system out there that may offer this kind of support, but as far as I know, the options for specific parent training and education software are somewhat limited.

While there are countless autism-focused books on parenting along with websites available on the topic, they are often not evidence based, meaning that there is not always research to back up what these resources are directing parents to do.

Trying to sift through all of these resources can often be overwhelming as well, and often parents are pulling from a hundred different sources and spending hours of their time to try and find an answer to their one question.

Parents need to ask pediatricians about evidence-based resources that are cohesive, understandable and individualized to them. Unlike having to read an entire book on ABA or autism which is not individualized to that family, in CR Care Coordinator, parents can jump right to lessons that apply directly to them and their individual challenges and questions.

And those that designed the platform at CentralReach, have already done the painstaking hours of analysis to present material that is grounded in research and proven to be effective, unique to each patient and their family.

Every parent should ask about this and they all deserve access to this kind of training and support.

Contemporary Pediatrics:

Can you talk about the training the software offers? How can the training avoid pauses or setbacks when it comes to care?

Lanzon:

The setup of CR Care Coordinator is fantastic! Its organized into lessons on various topics and each lesson presents the pertinent information for the parent by having them click through a narrated presentation.

After the lesson, it proves the parent with homework to actually apply the material and there is even a Rubric test so the parent can make sure they really understand the material.

Many of the topics are on specific ABA interventions; understanding and identifying functions of behavior, positive versus negative reinforcement, prompting procedures, and so on. CR Care Coordinator even offers topics related to vocational skills, community safety, understanding treatment options, and even data collection.

This can help to create seamless transitions from treatment to daily living for families, ensuring consistency with what occurs during session time and what occurs outside of it. Providers are not in the home 24/7 and parents now have a tool that is with them all the time to help them navigate challenges and questions at all times.

That accessibility also allows for continuity of care for when there may be a pause in care. For example, staffing shortages, insurance changes, sicknesses, and so on can all result in a potential pause in services, but with access to CR Care Coordinator, the resource doesnt just go away when the provider does - it is with them to be that support when a provider may not be able to.

Here at CBI, we really value the individual, not the diagnosis, and I feel that CR Care Coordinator really aligns with this mentality, in that they provide a really unique way for parents to individualize their experience, which is through the integration of values and relationship building with their child.

These lessons walk parents through establishing, integrating, and understanding their values and how those values impact their everyday lives. It can teach them how to connect with their child, how to be present, how to play, how to prioritize and this whole other set of processes that not only focuses on treatment, but the child and family as a whole.

For us here at CBI, we feel that CR Care Coordinator helps share the message to families that they are the biggest part of their childs treatment and that their thoughts, concerns and feelings about treatment decisions and care are valid and extremely valued.

Contemporary Pediatrics:

How can providers navigate patient expectations with a tool like this? Lanzon:

With CR Care Coordinator, as with ABA, or any other therapeutic treatment, there is no quick fix to challenges like maladaptive behaviors or learning communication. Utilizing a platform like this requires work, consistency, and dedication from a family to really see the impacts on their daily lives. Providers need to be transparent about this and let families know that challenges and questions will arise, but that families can focus on progress, not perfection. However, with access to a tool like CR Care Coordinator, families can have gaps filled in for them, where previously there were just voids of information. While waiting for services, during services and after discharge from services, CR Care Coordinator gives families an incredible opportunity to access quality, evidence-based skills and lessons that they can implement to help them, and their child feel empowered, unique and supported, which every family and child deserves to feel!

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Discussing software that helps track progress after an autism ... - Contemporary Pediatrics

Pediatrics

Ask the Pediatrician: Why is it important to teach children about body … – Union Democrat

The statistics reported by the Rape, Abuse & Incest National Network are sobering: 1 in 3 girls and 1 in 20 boys will experience sexual abuse or sexual assault by the time they reach age 17.

The idea that anyone would sexually abuse a child is terrifying, especially for parents and caregivers. But like with any risk our children might face, we need to be able to empower them with information that will help them recognize unsafe situations.

Children and teens who feel in control of their bodies are less likely to fall prey to sexual abusers. And if they do suffer abuse, they are more likely to tell a trusted adult which can make all the difference in stopping the events and subsequently helping them recover from this painful experience.

Here are some tips to help parents teach their children about body boundaries and safety:

Use appropriate language. Teach children proper names for all body parts, including their genitals: penis, vagina, breasts and buttocks. Making up names for body parts may give the impression that they are bad or a secret and cannot be talked about. Also teach your child which parts are private. This includes the parts of their body that are covered by their swimsuit, as well as their mouth. These places should not be touched or looked at without their permission.

Evaluate your family's respect for modesty. Modesty isn't a concept most young children can fully grasp. But you can still lay a foundation for future discussions and model good social boundaries. If you have kids of various ages, for example, teach your younger children to give older siblings their privacy if they request it.

Don't force affection. Do not force or guilt your children to give hugs or kisses. It is OK for them to tell even grandma or grandpa that they do not want to give them a kiss or a hug goodbye. Teach your child alternate ways to show affection and respect without close physical touch (high-fives, thumbs-up, etc.) Reinforce that their body is theirs to control, a concept called body autonomy.

Explain OK vs. not-OK touches. An "OK touch" is a way for people to show they care for and help each other, like when caregivers help with bathing or toileting, or when doctors check to make sure their body is healthy. A "not OK touch" is one they don't like, hurts them, makes them feel uncomfortable, confused, scared or one that has anything to do with private parts.

Reinforce that people should respect each other. Discuss how it is never OK for anyone to look at or touch their private parts without their permission. At the same time, they should not look at or touch other people's bodies without their permission.

Give your children a solid rule about inappropriate touches. This will make it easier for them to recognize a not-OK touch if one happens and empower them to say no to these.

Remind your child to always tell you or another trusted grown-up if anyone ever touches their private parts or makes them feel uncomfortable in any way. Inappropriate touching especially by a trusted adult can be very confusing to a child. Reassure your children that you will listen to and believe them if they tell you about not-OK touches.

Control media exposure. Make a family media plan. Get to know the rating systems of video games, movies and television shows, and make use of parental controls available through many cellular, internet, cable and satellite providers. Providing appropriate alternatives is an important part of avoiding exposure to sexual content in the media. Be aware that children may see adult sexual behaviors in person or on screens and may not tell you that this has occurred.

Review this information regularly with your children. Some good times to talk to your children about personal safety are during bath time, bedtime, doctor visits and before any new situation. Children meet and interact with many different adults and children every day: at child care, sports practices, dance classes, camps and after-school programs, to name a few. Giving them tools to recognize and respond to uncomfortable situations is key.

Expect questions. The questions your child asks and the answers that are appropriate to give will depend on your child's age and ability to understand. It is always important to tell the truth.

Always let your child know you believe in them and will do everything you can to protect them from harm. Help them understand that they will not be in trouble for telling you about information that should not be kept secret. Empower them to tell another trusted adult if they are too uncomfortable telling you.

If you have any questions about ways to keep your child safe from harm, including sexual abuse, talk with your pediatrician.

More information is available at HealthyChildren.org.

ABOUT THE WRITER

Shalon Nienow, MD, FAAP, is a member of the American Academy of Pediatrics Council on Child Abuse and Neglect Executive Committee. She is division director of child abuse pediatrics at Rady Children's Hospital in San Diego. She also serves as medical director at the Chadwick Center for Children and Families and clinical director of child abuse pediatrics at UC San Diego School of Medicine. As a child abuse pediatrician, she provides medical evaluations for children who may have experienced any form of abuse or neglect.

2023 Tribune Content Agency, LLC.

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Ask the Pediatrician: Why is it important to teach children about body ... - Union Democrat

Family Medicine

Future physicians to begin their next chapter at Match Day Ceremony – University of Arizona

At this years Match Day ceremony, to be held Friday, March 17, on the west side of the Old Main Building on the University of Arizona campus, 110 medical students from the University of Arizona College of Medicine Tucson will learn where they will complete the next phase of their medical training.

Surrounded by loved ones and in coordination with fourth-year medical students attending similar events across the country, students in their final semester of medical school will simultaneously tear open envelopes at 9 a.m. The contents will reveal where they will begin their residency, a three-to-seven-year stage of graduate medical education where new doctors practice medicine in their chosen specialty under the supervision of a senior medical clinician. Match Day represents a culmination of four years of intense study, volunteering, research, clerkships, sub-internships and clinical rotations for UArizona College of Medicine Tucson students.

During their last year of medical school, students interview for residency slots at institutions where they hope to receive further training. Students later rank their residency location preferences, while institutions rank the students they would like to have as trainees. The match process is completed by the National Residency Matching Program, and medical students are obligated to serve where they matched.

Match Day is the most anticipated event for medical students and for COM-T administration and faculty as we all find out where our students will be pursuing their graduate medical education during the next phase in their journey to become an independently practicing physician, said Kevin Moynahan, MD, vice dean for education at the College of Medicine Tucson. This day is the cumulation of four or more years of hard work, resiliency and professional identity formation. The college is proud to send our well-trained graduates to prestigious graduate medical education programs around the country and to welcome a significant number into our own residency programs.

Registration and breakfast begin at 7:30 a.m., with programming starting at 8:15 a.m. At 9 a.m., students will individually gather with their supporters to open their Match Day envelopes, and at 9:30 a.m., they will announce their matches publicly. Closing remarks begin at 11 a.m.

Parking is available ($8 per car) at the Tyndall Garage, located on Tyndall Avenue south of University Boulevard. There is an accessible drop-off area for people with disabilities on University Boulevard at the flagpole west of Old Main.

Those wishing to attend the event virtually can view the livestream at satyrlivestream.com/stream/match-day-2023/. For more information and to RSVP, visit the College of Medicine Tucson Match Day website.

College of Medicine Tucson medical students participating in Match Day include:

Ike Royal Chinyere, PhD, received his bachelors degree from the College of Medicine Tucson before enrolling as a dual MD/PhD student. As a doctoral student, Dr. Chinyere performed preclinical studies of an engineered biomaterial that could be implanted onto the hearts surface to help restore its electrical stability after a heart attack. The experience solidified his interest in helping patients through entrepreneurship.

Entrepreneurship fits into how I approach my goals as a physician-scientist in training. Utilizing both degrees is my main goal, he said. I believe it is my calling to simultaneously employ all of these skillsets to make a difference in patients lives.

Dr. Chinyere has applied for a select number of residency programs that will further develop him as a physician-scientist, and will pursue a career in cardiac electrophysiology, focusing on the electrical properties of the heart. He is looking forward to celebrating Match Day with his wife and young son.

I enjoyed my time here and met a lot of amazing people, and there are a lot of good memories, he said. I feel very excited that medical school is coming to an end, and very motivated for the next chapter.

Gabrielle Milillo has applied to residency programs in pediatrics, fulfilling a lifelong dream to be a pediatrician.

I really idolized my pediatrician. I valued the partnership she made with my family and her commitment to helping me grow as a person and as a patient at the same time, she said. What I love about pediatrics is the ability to work with patients at the most transformative moments of their life, being able to contribute to their development in a positive way.

Milillo is participating in the couples match to receive training in the same region as her partner, who is also completing his medical degree.

I met my partner at the beginning of medical school, she said. To end it all with the opening of the envelope and to continue our life together is incredible. I dont know what city well end up in, but Im excited to explore with him.

The couple will celebrate Match Day with their families.

Opening up that envelope at the same time, knowing that were all bonded in that moment, is really special, she said.

Kaloni Peleketi Philipp received her bachelors degree from the College of Medicine Tucson and was accepted to medical school through Pre-Medical Admissions Pathway, an intensive medical school preparation program for promising students who have faced considerable obstacles.

Initially interested in obstetrics and gynecology, Philipp pivoted to family medicine.

I loved OB, but I wanted to know about the other parts of their life. Its important to me to build long-term relationships, she said.

With those deeper connections, her goal is to improve care for underserved people: I want to explore ways to get them into doctors offices to prevent a lot of the chronic conditions and complications were seeing in that population.

As a medical student, Philipp developed leadership skills as co-chair of the Student Diversity Committee and the Asylum Clinic. She co-founded Polynesians in Medicine, a nationwide organization that supports Pacific Islander pre-med students as they work through the pipeline toward medical careers.

She will celebrate Match Day with her husband, along with family members from the Phoenix area.

Its the culmination of years and years of work, she said. Im excited to see where I end up.

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Future physicians to begin their next chapter at Match Day Ceremony - University of Arizona

Genetics

Common brain malformation traced to its genetic roots: Study – Hindustan Times

In new research, scientists at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation (common brain disorder) can be caused by variations in two genes involved in brain development.

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms.

In some cases, the disorder may run in families, but scientists have understood little about the genetic alterations that contribute to the condition.

The condition occurs when the lowest parts of the brain are found below the base of the skull. The study also revealed that children with unusually large heads are four times more likely to be diagnosed with Chiari 1 malformation than their peers with the normal head circumference.

The findings, published in the American Journal of Human Genetics, could lead to new ways to identify people at risk of developing Chiari 1 malformation before the most serious symptoms arise. It also sheds light on the development of the common but poorly understood condition.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, Haller said. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

If people start experiencing severe symptoms like chronic headaches, pain, abnormal sensations or loss of sensation, or weakness, the malformation is treated with surgery to decompress the Chiari malformation.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, said senior author Gabriel Haller, PhD, an assistant professor of neurosurgery, of neurology and of genetics. We were able to identify two causal genes, and we also discovered that people with Chiari have larger head circumference than expected. Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician.

To identify genes that cause Chiari 1 malformation, Haller and colleagues sequenced all the genes of 668 people with the condition, as well as 232 of their relatives. Of these relatives, 76 also had Chiari 1 malformation and 156 were unaffected. The research team included first author Brooke Sadler, PhD, an instructor in pediatrics, and co-authors David D. Limbrick, Jr., MD, PhD, a professor of neurosurgery and director of the Division of Pediatric Neurosurgery, and Christina Gurnett, MD, PhD, a professor of neurology and director of the Division of Pediatric and Developmental Neurology, among others.

Sequencing revealed that people with Chiari 1 malformation were significantly more likely to carry mutations in a family of genes known as chromodomain genes. Several of the mutations were de novo, meaning the mutation had occurred in the affected person during fetal development and was not present in his or her relatives. In particular, the chromodomain genes CHD3 and CHD8 included numerous variants associated with the malformation.

Further experiments in tiny, transparent zebrafish showed that the gene CHD8 is involved in regulating brain size. When the researchers inactivated one copy of the fishs chd8 gene, the animals developed unusually large brains, with no change in their overall body size.

Chromodomain genes help control access to long stretches of DNA, thereby regulating expression of whole sets of genes. Since appropriate gene expression is crucial for normal brain development, variations in chromodomain genes have been linked to neurodevelopmental conditions such as autism spectrum disorders, developmental delays, and unusually large or small heads.

Its not well known how chromodomain genes function since they have such a wide scope of activity and they are affecting so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms. Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

The association between chromodomain genes and head size inspired Haller and colleagues to measure the heads of children with Chiari malformations, comparing them to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention. Children with Chiari tended to have larger than average heads. Those children with the largest heads - bigger than 95% of children of the same age - were four times more likely to be diagnosed with the malformation.

The findings suggest that children with larger heads or people with other neurodevelopmental disorders linked to chromodomain genes may benefit from screening for Chiari malformation.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

(This story has been published from a wire agency feed without modifications to the text.)

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Common brain malformation traced to its genetic roots: Study - Hindustan Times

Human Behavior

How To Stay Resilient And Mentally Healthy During The Coronavirus Outbreak – WYSO

Editors Note:This hour discusses anxiety and other mental health issues.If you or someone you know may be considering suicide, contact theNational Suicide Prevention Lifelineat 1-800-273-8255 (En Espaol: 1-888-628-9454; Deaf and Hard of Hearing: 1-800-799-4889) or theCrisis Text Lineby texting 741741.

Coronavirus and collective stress around the world. Why is this moment so anxiety-producing and how can we stay resilient in the face of it?

Jonathan Kanter, director of the Center for the Science of Social Connection at the University of Washington. (@UWPsychology)

Elissa Epel, stress scientist and psychiatry professor at the University of California, San Francisco. (@Dr_Epel)

Shutdowns. Social and physical isolation. Quarantines.

Were living in stressful and unprecedented times, forced to change our daily lives in isolating and anxiety-producing ways.

Many different fears right now are converging all at once on people in a way that is really overwhelming, and confusing and hard to sort out,Jonathan Kanter,director of the Center for the Science of Social Connection at the University of Washington, told On Points Meghna Chakrabarti.

And its not just the coronavirus were afraid of. Its also the changes the coronavirus is causing, Kanter says.

The fears of being confined, being isolated, of being alone, of losing our routines, of losing our normal sources of social contact, he says.

Its a lot. But there are ways for us to deal with our stressors. Dr. Elissa Epel has some tips.

On staying positive

Dr. Elissa Epel:I think its so important for us to see our faces and see when we smile. Im on the phone every day about COVID coping calls for our university, our psychiatry department. And its very serious. And when someone makes a joke, its such a relief to see their face on Zoom, laughing. It makes me laugh. Its just instant relief. So the quick answer is use this science for good. Spread smiles when you can, spread calm when you can.

On going outside

Dr. Elissa Epel:My dog walk has become one of my most sacred times of the day. To get into green areas and just see dogs play. Luckily, we think dogs dont transmit it. And so, you know, seeing children play, really brings this joy and makes us laugh. So right now, Im really using puppy play.

On adapting to changes

Dr. Elissa Epel:Health behaviors, and amp them up if you can. Sleep will be disturbed for a bit. Try to not panic about that. We are all going through this together.

On breathing and meditation

Dr. Elissa Epel:You always have your breaths. And you can be with it. You can slow it. And it changes your mental state immediately. At UCSF, were going to be distributing links to these meditations apps. Many of these companies are making them free to us and they really do give our bodies a break. So I recommend that people try one.

And one last note of encouragement from Jonathan Kanter

Jonathan Kanter:We can find ways to notice our tendency to distrust others, sort of breathe into that gently and then instead do the opposite. Try to connect with people.

The San Francisco Chronicle: How to turn the coronavirus anxiety into something positive Most of us alive today are novices to experiencing global pandemics, so we could benefit from some insight through a science lens of human behavior under threat.

Theres a lot of controversy about just how much we should be anxious and panicking. Science has an answer. Anxiety is helpful, panic is damning: Anxiety drives us to mobilize together, stay clearheaded, and do what is needed for the common good.

Panic is highly contagious, throws us into irrational and catastrophic thinking, and drives us to toward lousy human behaviors that can exacerbate our crisis greed, excessive hoarding, stampeding. Panic is highly contagious and infects those around us. The difference between anxiety and panic is critical to understand, so we can strike the right balance.

The Conversation: Social distancing comes with social side effects heres how to stay connected To fight the spread of coronavirus, government officials have asked Americans to swallow a hard pill: Stay away from each other.

In times of societal stress, such a demand runs counter to what evolution has hard-wired people to do: Seek out and support each other as families, friends and communities. We yearn to huddle together. The warmth of our breath and bodies, of holding hands and hugging, of talking and listening, is a primary source of soothing. These connections are pivotal for responding to and maximizing our survival in times of stress.

Priority number one is to follow the recommended social distancing guidelines to control the virus. The cure is definitely not worse than the disease experts projections of disease spread and mortality without strong intervention make this clear.

Wired: Dont Go Down a Coronavirus Anxiety Spiral The past few days have made clear how serious the escalating coronavirus pandemic is for many people in the United States. Schools and workplaces across the country closed, major events were canceled, and testing delays made it impossible to confirm how many people were infected.

The stock market had its biggest decline in decades, Sarah Palin rapped to Baby Got Back dressed in a bear suitit feels like the world is unraveling. There is so much going on, and so much uncertainty, it is all too easy to get trapped watching cable news or scrolling through Twitter all day.

If all this news is making you feel stressed, youre far from alone. Many people are sharing their worries online; theres a whole subreddit devoted to coping with these feelings. Experts say overloading on information about events like the coronavirus outbreak can make you particularly anxious, especially if youre stuck inside with little to do but keep scrolling on Twitter and Facebook.

Seattle Times: A cough, and our hearts stop: Coping with coronavirus anxiety and fear We are you. We are mothers, daughters, students and teachers. Yet we are also clinical psychologists who spend our days researching and treating pathological anxiety and fear. With the near constant news of the spreading coronavirus and fatalities, our personal and professional identities have dramatically collided, forcing us to consciously live consistent with the scientific principles we know well.

This became very real for one of us on March 1, as two young children developed sudden, unexplained fevers. As they lay uncharacteristically quiet on the couch complaining of sore throats and headaches, fear set in. What followed was 24 hours of worry, internet searching, repeated calls to the pediatrician, and constant self-reassurance kids are unlikely to develop severe symptoms, coughing and breathing difficulties are primary symptoms but anxiety persisted.

In the end, the two kids were diagnosed with strep infections, and anxiety subsided. In Seattles elevated threat environment, anxiety processes are playing out in our daily lives.

This article was originally published on WBUR.org.

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How To Stay Resilient And Mentally Healthy During The Coronavirus Outbreak - WYSO

Human Behavior

How To Stay Resilient And Mentally Healthy During The Coronavirus Outbreak – WBUR

Editor's Note:This hour discusses anxiety and other mental health issues.If you or someone you know may be considering suicide, contact theNational Suicide Prevention Lifelineat 1-800-273-8255 (En Espaol: 1-888-628-9454; Deaf and Hard of Hearing: 1-800-799-4889) or theCrisis Text Lineby texting 741741.Coronavirus anxiety resources:Coronavirus Anxiety Helpful Expert Tips and Resources (ADAA),Manage Anxiety & Stress (CDC), Pandemics General Resources (APA)Other Resources:Anxiety and Depression Association of America,Association for Behavioral and Cognitive Therapies,The Jed Foundation,National Alliance on Mental Illness

Coronavirus and collective stress around the world. Why is this moment so anxiety-producing and how can we stay resilient in the face of it?

Jonathan Kanter, director of the Center for the Science of Social Connection at the University of Washington. (@UWPsychology)

Elissa Epel, stress scientist and psychiatry professor at the University of California, San Francisco. (@Dr_Epel)

The San Francisco Chronicle: "How to turn the coronavirus anxiety into something positive" "Most of us alive today are novices to experiencing global pandemics, so we could benefit from some insight through a science lens of human behavior under threat.

"Theres a lot of controversy about just how much we should be anxious and panicking. Science has an answer. Anxiety is helpful, panic is damning: Anxiety drives us to mobilize together, stay clearheaded, and do what is needed for the common good.

"Panic is highly contagious, throws us into irrational and catastrophic thinking, and drives us to toward lousy human behaviors that can exacerbate our crisis greed, excessive hoarding, stampeding. Panic is highly contagious and infects those around us. The difference between anxiety and panic is critical to understand, so we can strike the right balance."

The Conversation: "Social distancing comes with social side effects heres how to stay connected" "To fight the spread of coronavirus, government officials have asked Americans to swallow a hard pill: Stay away from each other.

"In times of societal stress, such a demand runs counter to what evolution has hard-wired people to do: Seek out and support each other as families, friends and communities. We yearn to huddle together. The warmth of our breath and bodies, of holding hands and hugging, of talking and listening, is a primary source of soothing. These connections are pivotal for responding to and maximizing our survival in times of stress.

"Priority number one is to follow the recommended social distancing guidelines to control the virus. The cure is definitely not worse than the disease experts projections of disease spread and mortality without strong intervention make this clear."

Wired: "Dont Go Down a Coronavirus Anxiety Spiral" "The past few days have made clear how serious the escalating coronavirus pandemic is for many people in the United States. Schools and workplaces across the country closed, major events were canceled, and testing delays made it impossible to confirm how many people were infected.

"The stock market had its biggest decline in decades, Sarah Palin rapped to Baby Got Back dressed in a bear suitit feels like the world is unraveling. There is so much going on, and so much uncertainty, it is all too easy to get trapped watching cable news or scrolling through Twitter all day.

"If all this news is making you feel stressed, youre far from alone. Many people are sharing their worries online; theres a whole subreddit devoted to coping with these feelings. Experts say overloading on information about events like the coronavirus outbreak can make you particularly anxious, especially if youre stuck inside with little to do but keep scrolling on Twitter and Facebook."

Seattle Times: "A cough, and our hearts stop: Coping with coronavirus anxiety and fear" "We are you. We are mothers, daughters, students and teachers. Yet we are also clinical psychologists who spend our days researching and treating pathological anxiety and fear. With the near constant news of the spreading coronavirus and fatalities, our personal and professional identities have dramatically collided, forcing us to consciously live consistent with the scientific principles we know well.

"This became very real for one of us on March 1, as two young children developed sudden, unexplained fevers. As they lay uncharacteristically quiet on the couch complaining of sore throats and headaches, fear set in. What followed was 24 hours of worry, internet searching, repeated calls to the pediatrician, and constant self-reassurance kids are unlikely to develop severe symptoms, coughing and breathing difficulties are primary symptoms but anxiety persisted.

"In the end, the two kids were diagnosed with strep infections, and anxiety subsided. In Seattles elevated threat environment, anxiety processes are playing out in our daily lives."

View post:
How To Stay Resilient And Mentally Healthy During The Coronavirus Outbreak - WBUR

Genetics

What Causes Autism? Researchers ID 102 Genes Linked to Condition – Healthline

In the largest genetics study of its kind to date, scientists have identified 102 genes associated with the risk for autism spectrum disorder (ASD).

Researchers also gained further insight into which of these genes are associated with both ASD and other disorders that cause intellectual disability and developmental delay.

For the study, an international team of researchers analyzed more than 35,000 participant samples, including almost 12,000 from people with ASD.

Researchers used a genetic technique called exome sequencing, which looks at all the regions of a persons genetic information or genome that are translated into proteins. This testing can pick up rare genetic mutations that might not show up with other methods.

Dr. Lonnie Zwaigenbaum, a professor in the Department of Pediatrics and the Stollery Childrens Hospital Foundation Chair in Autism at the University of Alberta, called this an exciting study, both for the sophisticated methods used and the large sample size.

These enabled researchers to identify a larger number of genes than ever before, which gives insight into how those genes operate and how they might increase the risk of ASD, said Zwaigenbaum, who wasnt involved in the research.

The study results were published January 23 in the journal Cell.

ASD is a group of neurological and developmental conditions that affect communication and behavior. Theres wide variation in the type and severity of symptoms in people with ASD.

Scientists believe that both genes and environment are involved in the development of ASD, with genetics playing a big part.

We know that inherited and unique mutations in the genome are a major source of risk for developing ASD, but specific causes of ASD are not yet well understood, said Lori J. Warner, PhD, director of the Center for Human Development and Ted Lindsay Foundation HOPE Center at Beaumont Childrens Hospital in Royal Oak, Michigan, who wasnt involved in the study.

Although environmental factors play some role in ASD, scientific studies have found that theres no link between receiving vaccines and developing ASD.

The new study marks an important step forward in scientists understanding of the genetic basis of ASD.

Researchers identified both inherited genetic mutations and de novo mutations ones that occur spontaneously when an egg or sperm form.

They also found that the ASD genes identified in the study can affect brain development or brain function. And they showed that two major types of nerve cells can be affected in ASD.

Of the 102 genes identified in the study, 49 were associated with other developmental delays.

Some genes appear connected to the development of ASD, whereas others may increase risk for ASD plus severe neurodevelopmental disorder, said Warner. We dont yet understand fully this process, but differentiating ASD from other disorders is important for effective treatment.

Zwaigenbaum said the overlap between ASD and other neurodevelopmental disorders fits with previous research.

This study reinforces that there are many genes that may have some role in autism vulnerability, but that also have a broader role in early brain development, said Zwaigenbaum.

These genes have a broader expression in terms of developmental abilities and challenges of the affected individual.

While scientists now understand ASD better as a result of this study, this kind of research also points toward better ways to help children with ASD.

The greatest benefit of studies of this type is helping researchers, families, and interventionists better understand how genetic factors actually function in the developing brain and body of the individual, said Warner, so that treatments can be developed to ameliorate or completely block the disruptive changes that lead to disorders such as ASD.

But Zwaigenbaum cautions that the results of the study will not lead to clinical benefits right away.

Theres a lot of translational work that would still need to happen in order to assess whether the findings from this study will directly inform assessment, diagnosis, or treatment, he said.

Still, he said the results provide direction for future research into potential biological treatments, as well as genetic tests that could allow earlier diagnosis of ASD.

Warner said there are medications currently approved for use in children with ASD, but they address symptoms like agitation or anxiety, rather than the core social or behavioral deficits of ASD.

Early diagnosis is another goal of ASD research, because the sooner children are identified and appropriately assessed, the sooner families can receive needed supports, said Warner.

But ASD is a complex condition, so genetic diagnosis isnt always straightforward.

Although studies like this continue to expand our appreciation for the increasing number of genes associated with ASD, the reality is that a genetic cause is seldom identified in most children with ASD even with the most sophisticated genetic testing, said Andrew Adesman, MD, chief of Developmental & Behavioral Pediatrics at Cohen Childrens Medical Center in Queens, New York, who wasnt involved in the study.

But he said theres still value in parents of a child with ASD seeking out genetic testing, especially as genetic technologies advance.

There have been steady gains in terms of the diagnostic yield of genetic testing, said Adesman. For this reason, parents of children with ASD may wish to discuss with their pediatrician whether their child should have the newer genetic tests done.

In the absence of a simple test for ASD, there are still things parents can do for their children.

The single most important things families and healthcare providers can do is to be aware of the risk factors and early signs and symptoms of autism, and get connected with needed services as soon as possible, said Warner.

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What Causes Autism? Researchers ID 102 Genes Linked to Condition - Healthline