Conference proceedings: Inaugural meeting of the consortium for autism, genetic neurodevelopmental disorders, and digestive diseases

Objectives: Individuals with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), often experience a higher prevalence of gastrointestinal (GI) symptoms but have complex medical and behavioral comorbidities that make diagnosis and treatment difficult. A multi-stakeholder conference was convened to (a) determine patient and family experiences related to GI symptoms in NDDs, (b) review the clinicians’ and researchers’ perspectives, and (c) determine actionable steps for future research.

Methods: The Consortium for Autism, Neurodevelopmental Disorders and Digestive Diseases (CANDID; www.candidgi.com) virtually over 2 days in 2022 and consisted of four key activities: (1) an electronic family survey to assess underlying NDDs and GI symptoms, (2) a session focused on family perspectives, (3) review current clinical care and research, and (4) discussion to identify key next steps. Survey results were obtained electronically via the REDCap platform, and descriptive statistics were generated. The sessions were recorded, and themes were identified.

Results: The pre-conference survey ran for ~2 months and 739 families provided responses, with 634 completing all items. 83% had a child with an NDD under age 18, and most patients were White (85%) and non-Hispanic (87%). Constipation (80%), GI reflux disease (51%), and bloating (49%) were the most frequently reported symptoms. Families gave unstructured feedback that the measures used in the surveys were often difficult to answer for patients with NDDs or who were nonspeaking. Family and clinical/scientific sessions identified several common themes, including (1) the need for less invasive diagnostic modalities, (2) the need to validate or adapt existing diagnostic measures (e.g., the Rome IV criteria) and outcome assessments, and (3) the need for enhanced attention to parent and caregiver input in treatment plans.

Conclusions: Those providing care to children with NDDs, especially those with communication and cognitive challenges, should be aware of the differing needs in this community and consider family perspectives in managing, treating, and measuring GI issues. Future research should focus on adapting or creating diagnostic and research measures for those with NDDs, developing new diagnostic methods to account for diversity in neurodevelopment and communication, and improving methods for family and caregiver engagement in the care of GI disorders.

Are you the grandparent, cousin, aunt, uncle, sibling, or half-sibling of someone with autism and wondered “what is the likelihood of autism in families, and the likelihood of comorbid conditions if I have a family member with autism?” Listen to this week’s podcast. Researchers at the AJ Drexel Autism Research Institute and Aarhus University in Denmark collaborated to calculate probabilities between autism in a person and dozens of other comorbid conditions in family members. They not only made the paper open to the public for everyone to read it, but they also created a publicly available data visualization tool so anyone can go on and look at specific situations of particular family relationships relating to anything from autoimmune conditions to mental health and psychiatric diagnosis. Links below for reference:

https://pubmed.ncbi.nlm.nih.gov/39283002

Interactive graphs: https://public.tableau.com/app/profile/diana.schendel/viz/ASDPlots_16918786403110/e-Figure5

Ensuring children are safe during the night can be a major concern for autism families. Up to 80% of children with autism experience sleep disturbances, and caregivers express concern about elopement, self-injury, and other risks that may be incurred by a child who has difficulty sleeping through the night. Safeguarding against these risks can be challenging and lead to many sleepless nights for the parents as well as the child. This project will use data gathered through remote interviews and daily sleep diaries to adapt a newly formed questionnaire that can be validated and used as a quantitative measure of caregivers’ safety-related concerns. There will be a special focus on the concerns of underrepresented groups such as families of color, those from socioeconomically disadvantaged communities, and families supporting children with additional disabilities. Additionally, objectively measured sleep data from a larger existing study will be used to assess how caregiver safety concerns relate to the actual sleep patterns of both the child and caregiver. The ability to document and measure safety-related concerns in diverse communities and identify sleep patterns linked to these concerns will lead to better understanding and more effective targeting of the specific needs of families.

In part 1 of a 3 part series on Profound Autism, ASF interviews Emily Ferguson, PhD from @Stanford shares what she learned by asking parents and caregivers of Profound Autism “what do you need?” The short answer was: “There is No Help“. The responses were overwhelmingly focused on inclusion in any program or service, since they are normally excluded from traditional programs. They also call for better multidisciplinary medical management. Needs were associated with a number of factors. Why talk to caregivers? Their perspectives help identify both research and service priorities in the future.

https://pubmed.ncbi.nlm.nih.gov/38963473

In case you missed it, listen to Alison Singer with Gina Kavali on her podcast @LifeWiththeSpectrum. Alison talks about the importance of autism research and science in general, and how families can get involved.

In recognition of Father’s Day on the 16th, today’s podcast includes the latest research on fathers. Fathers may often be the “secondary caregiver” but should hardly be dismissed as inconsequential. Father’s sensitivity and insightfulness plays an important part in development, psychiatric diagnoses (including autism) change the the chance of having a child with autism, and more understanding is being done on the heritable factors associated with chemical exposures in the father.

https://www.tandfonline.com/doi/full/10.1080/14616734.2024.2326416

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11059471/pdf/main.pdf

While NDBIs are generally considered beneficial, they still face controversies – do they actually work and does that translate to an improved quality of life for the family? This week’s #ASF podcast interviews Molly Reilly and Jinwei Song of @UConn to dive into these issues, as well as the role of the caregiver in the intervention and how their influence affects the outcome. References below.

https://pubmed.ncbi.nlm.nih.gov/38719439

https://journals.sagepub.com/doi/epub/10.1177/13623613241227516

https://link.springer.com/article/10.1007/s10803-023-06198-x

Studies using wearable devices suggest that severe behaviors like aggression and self-injury are often preceded by physiological signs that may reflect emotional dysregulation and stress, such as increased heart rate and sudden movements. In order to best manage these situations and support children with profound autism in school settings, researchers at the University of Pennsylvania developed the KeepCalm app. This app works with a wearable device and allows educators to monitor their students in real-time. The app’s interactive learning feature helps train teachers to identify early signs of distress and use appropriate de-escalation strategies before injurious behavior occurs. This information can also be shared with parents, so that they can use the same strategies at home. This project will assess the KeepCalm system in educational teams and modify the application and training to specifically accommodate students with profound autism.

Large gaps exist in healthcare for Black autistic children, yet the lived experiences of these families are rarely investigated or considered when designing research studies. This student will collect data from families, including information about their diagnostic experience and the factors that matter most to them. The results will help researchers and healthcare providers develop culturally competent interventions for Black families across the world.

Many autism referrals in low-resource settings originate from community mental health care clinics. Unfortunately, many mental health care providers are not trained in autism interventions and do not have the appropriate resources to provide support to parents or provide parent training for early developmental interventions. This fellow will work directly with ABA agencies that contract with Medicaid to determine how clinicians can better support parents participating in parent- mediated interventions.

A recent publication in the Lancet was dedicated to clinical recommendations to support autistic females at birth. Because more males than females are diagnosed with autism, their needs are often misunderstood, misinterpreted, or just ignored. Researchers, clinicians, scientists, parents and self-advocates from around the world joined together to identify those needs and propose solutions that can be implemented in everyday care. Listen to this week’s podcast episode to learn more, or read the article in its entirety at the link below.

https://authors.elsevier.com/c/1i5LV8Mut2Mzvb

On this week’s ASF podcast: there are dozens of good reasons why scientists need to study the brains of people with autism. One is to understand what happens in the brain as people with autism get older and see how the brain changes over time. Another is to identify mechanisms of autism to help all neuroscientists figure out how the brain works. A third is improve medicine by determining what helps what people at what age. Scientists @UCDavis, @Penn and @UCLA examined the individual brain cells of people with autism to address these three questions, revealing that the autistic brain shows some similarities to brains of people with Alzheimer’s Disease. In addition, inflammation seen in the brain may be caused by too much activity of cells talking to each other. Studying the brains of people with autism is essential to better understanding and is made possible by families who are committed to research. 

www.autismbrainnet.org.

https://pubmed.ncbi.nlm.nih.gov/36862688/