Podcast: How IQ impacts the “will do” of skills: adaptive behaviors

On this week’s podcast, Dr. Elaine Clarke from @RutgersU discusses the role of adaptive behavior. This refers to the wide range of skills that a person with autism can exhibit. Can they hold a conversation? Dress themselves? Prepare a meal? These sets of skills are strongly influenced by cognitive ability. Dr. Clarke will talk about the link between cognitive ability and adaptive behaviors and while there may be differences in the abilities across the spectrum, it means clinicians and families need to aim for what works best for their individual child. Read more below:

https://pubmed.ncbi.nlm.nih.gov/38317766

https://pubmed.ncbi.nlm.nih.gov/39679971

https://pubmed.ncbi.nlm.nih.gov/39056304

It happens every year – this one belonged in the 2024 year end highlights but was published late in the year. Researchers at UCSD, UCLA and CHLA followed families with autism whose genetic test revealed a rare variant. Did it make a difference in care? Understanding? Referrals? Listen to this week’s podcast episode to learn all about it. If you are in need of a genetic test, here are some things to know: https://www.alliancegenda.org/genetic-testing

Reference here: https://www.sciencedirect.com/science/article/pii/S1098360024002673

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.

Profound autism refers to a subset of individuals with autism spectrum disorder who have an intellectual disability with an intelligence quotient less than 50 and minimal-to-no language and require 24-hour supervision and assistance with activities of daily living. The general pediatrician will invariably work with autistic children across the spectrum and will likely encounter youth with profound autism. Awareness of profound autism as a real entity describing autistic children with concomitant intellectual disability and language impairment who require 24-hour care is the first step in developing a solid pediatric home for these youth.

Objectives: Autism spectrum disorder (ASD) is estimated to be ∼10 times higher in children with versus without an autistic sibling in population-based studies. Prospective studies of infant siblings have revealed even higher familial recurrence rates. In the current prospective longitudinal study, we provide updated estimates of familial ASD recurrence using a multinational database of infants with older autistic siblings.

Methods: Data were collated across 18 sites of the Baby Siblings Research Consortium, an international network studying the earliest manifestations of ASD. A total of 1605 infants with an older autistic sibling were followed from early in life to 3 years, when they were classified as ASD or non-ASD. Hierarchical generalized linear modeling, with site as a random effect, was used to examine predictors of recurrence in families and calculate likelihood ratios.

Results: A total of 20.2% of siblings developed ASD, which is not significantly higher than the previously reported rate of 18.7%. Male infant sex and >1 older affected sibling were significant predictors of familial recurrence. Proband sex also influenced recurrence rates, with siblings of female probands significantly more likely to develop ASD than siblings of male probands. Race and maternal education were also associated with recurrence in families.

Conclusions: The familial recurrence rate of ASD, as measured in infant sibling studies, has not changed appreciably since previous estimates were made in 2011. Younger siblings of autistic children, particularly those who are male, have an affected female sibling, multiple affected siblings, or are impacted by social inequities, should be closely monitored and promptly referred for diagnostic evaluation.

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

Despite many years fighting it, families with autism still experience societal stigma. The experiences depend on many factors, summarized in the October 21st podcast. This week, Mia Kotikovski explores cultural factors involved in stigma. As examples, she explores the literature from Asia, the Middle East and the United Kingdom, how they are different, and how families cope with that stigma in different areas of the world.

https://link.springer.com/article/10.1007/s40489-023-00373-7

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9330163

https://link.springer.com/article/10.1007/s10803-019-04218-3

https://www.nature.com/articles/s41598-022-23978-0

https://molecularautism.biomedcentral.com/articles/10.1186/s13229-023-00579-w

https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0261774

https://onlinelibrary.wiley.com/doi/full/10.1002/aur.2652

In this week’s podcast episode, part 1 in cultural stigma around autism with Mia Kotikovski provides an overview of stigma, where it can come from across cultures and provides some examples of stigma in different countries. Different areas of the world are in different places in terms of their perceptions of autism, their needs for autism families, and what they perceive as their greatest difficulties. The topic is so important we broke it down into two sections. Please listen to both, it will explain a lot about autism services and supports around the world.

https://journals.sagepub.com/doi/10.1177/1362361318823550

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8992913

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11303671

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11303671

https://pubmed.ncbi.nlm.nih.gov/30248583

https://pubmed.ncbi.nlm.nih.gov/38507392

https://www.researchgate.net/publication/277816405_A_Cross-Cultural_Comparison_of_Knowledge_and_Stigma_Associated_with_Autism_Spectrum_Disorder_Among_College_Students_in_Lebanon_and_the_United_States?enrichId=rgreq-97b7d5f50aac4d5b124ea8295b42fdb0-XXX&enrichSource=Y292ZXJQYWdlOzI3NzgxNjQwNTtBUzoyNDI4NTI2Mzk4NDIzMDRAMTQzNDkxMTk4OTI3MA%3D%3D&el=1_x_3&_esc=publicationCoverPdf

This project will expand an existing longitudinal study that tracked children from infancy and recently reported that a high proportion of those who were later diagnosed with autism showed an excess volume of cerebrospinal fluid in their brains when they were 6 months old. To date, assessment of these infants stopped at a diagnosis. This student will administer additional assessments to these families to determine whether this increase in cerebrospinal fluid persists as the children age, whether it’s associated with any behavioral features including attention difficulties, executive function and ADHD, and whether it predicts differences in autism severity.

Many parents of older autistic children look back and recall that their children experienced eating and feeding problems during infancy. These challenges negatively impacted their child’s quality of life resulting in issues from stomach pain to malnutrition. This study will examine feeding and eating behaviors in infants as early as 6 months old with a family history of either autism or ADHD. These infants will be followed to toddlerhood to determine if eating and feeding problems can contribute to early prediction of autism. The goals of this research are to determine if early eating difficulties are a sign of autism and if they are specific to autism, as well as how best to treat these issues early in children likely to be diagnosed with autism.

On this week’s podcast episode, special correspondent Mia Kotikovski discusses challenges in getting emergency care for those with autism, what doctors and hospitals can do to ease the stressors associated with places like the ER. This is a huge issue for families as many “simple” ER visits for their autistic family members can cause such stress it provokes severe reactions, especially in those with sensory issues, intellectual disability or those who cannot express their pain.

https://publications.aap.org/pediatrics/article/137/Supplement_2/S205/34011/Toward-Practice-Advancement-in-Emergency-Care-for

Instead of grouping together people with autism based on traditional severity scores, what if groupings were done based on functional outcome? Would this help better understand the broad spectrum of autism and why some people with autism are so different than others? Researchers at the University of Minnesota led by Kyle Sterrett, together with UCLA and UNC utilized a study that followed children with autism in the early 1990’s into their adulthood, in the 2020’s. They created and asked these families a set of questions (included in the manuscript below) to help identify levels of functioning in people with autism. This was done to help them and their families get the right support at right time. They found that these questions could differentiate people with Profound Autism based on things like level of independence and safety concerns. Dr. Sterrett talks with us on this week’s podcast to explain what they did and why it is so important.

https://pubmed.ncbi.nlm.nih.gov/39031157