Children’s of Alabama Expands Sensory Pathway For Patients With Sensory Sensitivities
When Sladen Fisher got a bad cut on his earlobe at school, his mother, Jennifer Fisher, worried the sights and sounds of Children’s of Alabama’s Emergency Department would be too stressful for her son. That’s because Sladen has attention deficit hyperactivity disorder (ADHD) and sensory processing disorder.
At the time of the Sladen’s visit, Children’s of Alabama had just launched its Sensory Pathway, designed for patients with conditions such as ADHD, autism and Down syndrome. In 2016, the pathway began as a pilot project in the Emergency Department; however, it has since expanded to One Day Surgery and several inpatient units at Children’s of Alabama, including the Pediatric Intensive Care Unit, Pulmonary Care Unit and Special Care Unit. Future plans include expansion to ancillary and outpatient services.
The pathway made a lasting impact on Sladen. Back at school a few weeks later, he presented a report about someone he considers a hero. He chose Children’s of Alabama Child Life Specialist Shelby Smith, who stayed by his side during his visit, explained his treatment in terms he understood and provided him with an iPad and fidget toys for distraction and comfort.
“In his mind, she was a hero, someone who went above and beyond to help him,” Jennifer said. She made what could have been an incredibly difficult situation so amazing. She really was our hero.”The pathway has been equally impactful on Children’s of Alabama, said Michele Kong, M.D. associate professor in pediatric critical care at the University of Alabama at Birmingham (UAB) Department of Pediatrics.
“The pathway has been so empowering for our providers,” said Kong, who serves on the Sensory Pathway Task Force, also comprised of nurses, informatics specialists and child life specialists. Unit by unit, the task force provides education and training and is developing an online training module. The task force is also working with information technology specialists to flag patients with sensory sensitivities from the point of admission.
“We tailor education and training to suit each unit’s needs because each unit’s workflow and culture is different,” Kong said. “The success of the pathway is a direct reflection of our providers’ passion to learn. There’s buy-in from our providers because they know it’s good for their patients.”
As a parent, Kong, too, knows how jarring a hospital visit can be for a child with sensory sensitivities. Her oldest son, Abram, was diagnosed with autism at age 4. The diagnosis inspired Kong and her husband, Julian Maha, M.D., to found KultureCity®, a nonprofit that works to “create acceptance and inclusion for all individuals with unique abilities,” according to its mission statement. In 2019, KultureCity was ranked fourth on Fast Company magazine’s list of the most innovative companies in the world. KultureCity not only partners with local organizations in Birmingham, but also with national organizations such as the NBA and NFL.
“We never imagined it would reach this scale,” Kong said. “It impressed on us that there’s a lot of power when a collective group of people have the same belief and passion for change.”
UCLA-led team compares DNA of children with the disorder to that of their siblings and parents
A UCLA-led research team has identified dozens of genes, including 16 new genes, that increase the risk of autism spectrum disorder. The findings, published in the journal Cell, were based on a study of families with at least two children with autism.
Researchers from UCLA, Stanford University and three other institutions used a technique called whole genome sequencing to map the DNA of 2,300 people from nearly 500 families. They found 69 genes that increase the risk for autism spectrum disorder; 16 of those genes were not previously suspected to be associated with a risk for autism.
Researchers also identified several hundred genes they suspect may increase the risk of autism based on their proximity to genes previously identified to carry an increased risk. The study analyses further revealed several new biological pathways not previously identified in studies of autism.
The findings shed light on how genetic variants or mutations — the differences that make each person’s genome unique — are passed from parents to children affected with autism, said the study’s co-lead author Elizabeth Ruzzo, a UCLA postdoctoral scholar. Former UCLA postdoctoral scholar Laura Pérez-Cano is the study’s other co-lead author.
“When we look at parents of autistic children and compare them to individuals without autism, we find that those parents carry significantly more, rare and highly damaging gene variants,” Ruzzo said. “Interestingly, these variants are frequently passed from the parents to all of the affected children but none of the unaffected children, which tells us that they are significantly increasing the risk of autism.”
Of the children in the study, 960 have autism and 217 children do not. That enabled researchers to analyze the genetic differences between children with and without autism across different families.
“Studying families with multiple children affected with autism increased our ability to detect inherited mutations in autism spectrum disorder,” said Dr. Daniel Geschwind, senior, corresponding author of the study and the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology and Psychiatry at the David Geffen School of Medicine of UCLA.
“We show a substantial difference between the types of mutations that occur in different types of families, such as those that have more than one affected child versus those having only one child with ASD,” said Geschwind, who also was the study’s co-principal investigator and director of the UCLA Center for Autism Research and Treatment and director of the Institute of Precision Health at UCLA.
The research also found that the 16 genes newly determined to be associated with an increased risk for autism form a network with previously identified ASD risk genes. The way they interact with one another further heightens the risk, said the study’s co-senior author and co-principal investigator Dennis Wall, a Stanford University School of Medicine associate professor of pediatrics and of biomedical data science.
“They associate with each other more tightly than we’d expect by chance,” he said. “These genes are talking to each other, and those interactions appear to be an important link to autism spectrum disorder.”
The nearly 600 genes researchers suspect as carrying an increased risk of autism were identified through “guilt by association,” or through their interactions with other genes that already have been shown to carry an increased autism risk, Ruzzo said.
“And although not all of those genes will be found to increase the risk for autism, our analysis indicates that future studies will provide support for many of these genes,” she said.
The families studied are part of the Autism Genetic Resource Exchange (AGRE), which was originally developed nearly two decades ago by researchers and the National Institutes of Health in collaboration with Cure Autism Now, which is now a program of Autism Speaks.
Autism is a spectrum of neurological disorders characterized by difficulties with communication and social interaction. Geschwind has been working to identify the genetic causes and biological mechanisms of the disorder for more than a decade, and led the original development of the AGRE resource that was used in this study in the late 1990s. In 2018, he and colleagues at UCLA received their second, five-year grant from the NIH to expand autism research by studying genetic causes of autism in African American families.
Autistic mothers are more likely to report post-natal depression compared to non-autistic mothers, according to a new study of mothers of autistic children carried out by researchers at the University of Cambridge
A better understanding of the experiences of autistic mothers during pregnancy and the post-natal period is critical to improving wellbeing. The results are published in Molecular Autism.
The team recruited an advisory panel of autistic mothers with whom they co-developed an anonymous, online survey. After matching, this was completed by 355 autistic and 132 non-autistic mothers, each of whom had at least one autistic child.
Sixty percent of autistic mothers in the study reported they had experienced post-natal depression. By comparison, only 12% of women in the general population experience post-natal depression. In addition, autistic mothers had more difficulties in multi-tasking, coping with domestic responsibilities, and creating social opportunities for their child.
The study also found that when autistic mothers disclosed their autism diagnosis to a professional, they were not believed the majority of the time. Autistic women felt misunderstood by professionals more frequently during pre- and post-natal appointments and found motherhood an isolating experience. Despite these challenges, autistic mothers reported they were able to act in the best interest of their child, putting their child’s needs first and seeking opportunities to boost their child’s self-confidence.
Dr Alexa Pohl, who led the study, said: “Autistic mothers face unique challenges during the perinatal period and parenthood. Despite these challenges, an overwhelming majority of autistic mothers reported that parenting overall was a rewarding experience. This research highlights the need for increased awareness of the experiences of motherhood for autistic women and the need for more tailored support.”
Professor Simon Baron-Cohen, Director of the Autism Research Centre at Cambridge, and part of the team, said: “This worryingly high number of autistic mothers who experience post-natal depression means we are failing them and their infants at a critical point in their lives. We now need more research into why the rates are so much higher, whether they are seeking help and not getting it, or if they are not seeking help and for what reasons. A new research priority is to develop autism-relevant screening tools and interventions for post-natal depression in these mothers.”
Monique Blakemore, an autistic advocate and member of the team, said: “This vital study was initiated by the autistic community, who collaborated as equal partners with researchers in the design, dissemination and interpretation of the survey. This is an excellent example of what can be achieved through such partnership.”
The study was supported by the National Institute of Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care (CLAHRC), East of England, at Cambridgeshire and Peterborough NHS Foundation Trust, the Autism Research Trust, the MRC, the NIHR Cambridge Biomedical Research Centre, and Autistica.
A comparative study of autistic and nonautistic women’s experience of motherhood by Alexa Pohl, Sarah Crockford, Monique Blakemore, Carrie Allison and Simon Baron-Cohen. Molecular Autism. DOI: 10.1186/s13229-019-0304-2
An Autism Intervention Research Network on Physical Health grant supports the research
The Center for Autism & Neurodevelopmental Disorders will begin a research study using physical exercise to reduce anxiety in children with Autism Spectrum Disorder (ASD) among underserved populations.
This initiative is made possible through a grant from the Autism Intervention Research Network on Physical Health (AIR-P). Jean Gehricke, Ph.D., associate professor of pediatrics at UC Irvine and a licensed clinical psychologist with The Center for Autism & Neurodevelopmental Disorders, is the principal investigator of the study. The four-year study is receiving $103,125 for its initial year, with the potential overall total of $790,625. Gehricke expects to enroll participants by early fall.
“We are excited to be chosen as the only site nationwide to receive this AIR-P grant to study the impact of exercise on anxiety, which is very common and can lead to poor outcomes in children with autism,” Gehricke said. “The grant will allow us to collect valuable data that could significantly improve long-term physical and mental health, particularly in underserved communities.”
A growing international body of research is confirming the wide-ranging benefits of exercise in reducing stress and improving the long-term health of children and adults alike. This study will determine the potential benefits of exercise in underserved children with ASD.
“We often tell our families to encourage their children with autism to get out and exercise,” said Kelly McKinnon, M.A., BCBA, co-investigator on the project. “It’s exciting to be able to study its impact and share the results with our families.”
The physical exercise research program is being designed to incorporate comprehensive new guidelines for physical exercise in children developed by the Centers for Disease Control and Prevention. Researchers will measure impact based on several key factors, including compliance, anxiety and salivary cortisol levels measured before and after completion of the exercise and control group interventions. Cortisol is a frequently used biomarker for stress, Gehricke explained.
Collecting this data will aid in the development of an evidence-based physical exercise intervention toolkit for the treatment of anxiety as well as other behaviors and improvement of physical health in children with ASD from underserved populations.
“Research is one of the core pillars of our mission,” said Catherine Brock, M.A., executive director of The Center for Autism & Neurodevelopmental Disorders. “With this grant and Jean Gehricke’s pioneering research efforts, we will be better able to help parents and families overcome obstacles they face and assist children in reaching their optimal potential.”
About The Center for Autism & Neurodevelopmental DisordersFounded in 2001 (originally as For OC Kids), The Center is home to a team of experts in the field of autism and neurodevelopmental disorders. Since its opening, The Center has been a leader in clinical services, research, education, and outreach, serving clients from birth through 22 years old.
In late 2012, a catalytic investment by the Thompson Family Foundation and the Children and Families Commission of Orange County provided $14.8 million to expand The Center for Autism & Neurodevelopmental Disorders.
The Center was established to provide help and hope to children, adolescents, young adults and their families challenged by autism spectrum and other neurodevelopmental disorders through excellent clinical care, innovative research, quality education, and community engagement. For more information, please visit http://www.thecenter4autism.org.
Paula Ong will chat away about her childhood, dropping out of college and the 13 jobs she has held in the past two decades. But ask how she “feels” about living with Asperger’s syndrome and she will give you a lengthy pause.
“Feels” is not a concept she can verbalize clearly.
“Feeling is abstract and at times broad,” she explains. “Many people with Asperger’s syndrome have a hard time grasping and verbalizing abstractness.”
Asperger’s syndrome is a developmental disorder on the autism spectrum that causes impairment in social and communication skills. It is sometimes thought of as being a high functioning form of autism because “Aspies,” as they call themselves, are people of average or higher intellectual level.
Symptoms include repetitive routines or rituals; peculiarities in speech and language; socially and emotionally inappropriate behavior; difficulty interacting successfully with peers; problems with non-verbal communication; and uncoordinated motor movements. They also may have limited interests or an unusual preoccupation with a particular subject to the exclusion of other activities.
“They are high on systemizing and low on empathizing,” says Katherine Loveland, PhD, professor of psychiatry and behavioral sciences at The University of Texas Health Science Center at Houston (UTHealth) Medical School, which has just opened a new clinic for patients with Asperger’s. Changing Lives through Autism Spectrum Services (CLASS) will serve intellectually able people age 16 and older with Asperger’s or another autism spectrum disorder. “Systemizing is the kind of thinking we do when we organize things, solve concrete problems and think in terms of how things work as opposed to empathizing, where we are attuned to and concerned with the feelings of other people.”
It wasn’t until 1992 that Asperger’s was recognized as a distinct disorder by the World Health Organization and not until 1994 that it was included in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), the American Psychiatric Association’s diagnostic reference book.
So like many people who have Asperger’s syndrome, Ong’s ability to put a name to her idiosyncrasies didn’t come until she was well into adulthood. Ong, 41, was diagnosed with Asperger’s in 2006 during treatment for a mood disorder and attention deficit hyperactivity disorder (ADHD). Although current DSM criteria do not permit the diagnosis of ADHD together with an autism spectrum disorder, recent research including a major study at UTHealth has revealed that a majority of people with autism spectrum disorders have some form of ADHD as well.
“We’re only now getting good at detecting Asperger’s in young people and there is a cohort of adults from when we were not so good at detecting it,” says Loveland, director of the CLASS Clinic.
“Either it’s never been diagnosed or it’s been misdiagnosed,” Loveland says. “One of the reasons it might be missed is because they are intellectually able. They are bright and verbal and good at school work, but they have continuing social problems, such as forming relationships with peers, being accepted, and dealing with emotions.”
Ong is a good example. She is sharp with a keen sense of humor. She made As and Bs in school and excelled in history and science, the subjects that most interested her. She admits she wasn’t as good in math, which led to her decision to drop out of college, a decision her parents weren’t happy about. Her mother has degrees in journalism and business; her father is an aerospace engineer.
“My mom always suspected that I had something like autism despite what the schools told her when I was growing up,” says Ong, whose good grades disguised the severity of her disorder.
As she grew older, Asperger’s syndrome affected Ong’s ability to sustain a career. The longest job she held was from 1997 to 2006. She began the position working in a parking booth and the limited contact with customers played to her advantage. But when parking tickets went electronic and the booths went away, she had to interact more with customers and sometimes it didn’t go well. She was written up after chasing down a car and banging on its rear window because the driver followed another car through the gate arm without paying.
“Some Asperger’s people don’t think and feel at the same time,” she says. “With some Aspies, you think and then you feel or you feel and then you think. My thinking is visual. I’m impulsive. Customer service is not my thing despite the fact I’ve been doing it for more than 20 years. The only time my experience in customer relations comes in handy is when I’m ‘translating’ for other people with Asperger’s. I have to know body language and stuff and I think I have a good idea of what others are expressing.”
Ong has been under a doctor’s care since she was in her mid-20s for stress management and mood disorders, which includes depression.
“There are emotional issues… if people think you are odd, it affects how they treat you, and so you have a lot of stress,” Loveland says. “People on the autism spectrum have more trouble regulating their emotions. Their resources for coping with stress are less developed and they can become upset very easily. Over time, the stress and the emotional upset can lead to anxiety and depression. That’s not good for the developing brain and as a result, they often develop secondary psychopathologies.”
Specialists such as those at the UTHealth psychiatry CLASS Clinic can determine whether the problems an individual is experiencing are related to Asperger’s syndrome. Co-existing conditions such as depression and anxiety can be treated with medication or psychotherapy.
“I really feel there is an unmet need in the community. There are people out there who are struggling and need a place to go. We want people to access the support they need,” Loveland says. “They will be able to meet people on a similar journey and know they are not alone. Group and individual training will help them develop skills that they need to feel successful in stressful situations.”
Ong has learned many skills, including using her favorite stuffed animal, Boo, to help her through stressful situations.
“I had to make presentations about Asperger’s in Corpus Christi and Fort Worth and Boo came. I didn’t know any of these people or what they would think of us. Boo takes away my fears. He handles my emotional burden,” Ong says.
Borderline personality disorder is a mental health disorder that impacts the way you think and feel about yourself and others, causing problems functioning in everyday life. It includes self-image issues, difficulty managing emotions and behavior, and a pattern of unstable relationships.