Dr. Emily Casanova and Rosie Head discuss research updates on Ehlers-Danlos Syndromes (EDS) and their overlap with autism. Casanova outlines ongoing research investigations into the genetic factors that contribute to the expression of EDS in individuals with Fragile X Spectrum Disorders (FXS). Head dives into overlapping symptomology of EDS and autism and draws from personal experiences to provide suggestions and insights on treatments and diagnosis. The presenters discuss further symptoms of EDS, EDS diagnosis and research, and share personal experiences with self-advocacy in the Q & A.
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In this webinar:
3:00 – What is EDS and HSD?
5:00 – Autism and EDS overlap
7:10 – Maternal susceptibility factors
9:30 – Fragile X Syndrome and premutation
12:30 – Nucleotide repeats
15:40 – Joint hypermobility and FXP
19:30 – FXP and EDS/HSD
21:35 – FXS model for EDS and autism
25:15 – Thanks and acknowledgments
27:00 – Shared symptoms
29:00 – Sensory and coordination issues
32:00 – Autonomic and immune system dysfunction
34:30 – Early sign of EDS
39:00 – Early interventions and gaps in care
43:00 – Q &A
Casanova explains that Ehlers-Danlos Syndromes (EDS) are hereditary connective tissue disorders (3:08), including joint hypermobility and musculoskeletal pain/instability. Hypermobility disorders (HSD), she continues, are those that do not meet full EDS criteria but have musculoskeletal pain and instability (4:00). The speaker notes the overlap of autism and hereditary connective tissue disorders, like EDS and HSD, highlighting that research in this area is still in its infancy (5:00). She explains that autism and EDS are both underdiagnosed, especially in women (6:00). The speaker outlines preliminary evidence showing that maternal EDS/HSD and immune system issues are significant susceptibility factors for autism and EDS/HSD (7:10)
Fragile X Spectrum Disorders and EDS
The presenter outlines ongoing research on Fragile X Spectrum Disorders (FXS), which are characterized by excess trinucleotide repeats in the FMR1 gene (9:10). Casanova and colleagues have found an EDS phenotype with excess trinucleotide repeats in the motor region of this gene. Individuals with between 55 and 200 repeats have the Fragile X premutation (FXP), while those above 200 present full-blown FXS (12:30). The premutation occurs in about 1:400 men and 1:200 women, making it a common variant. However, most people with the premutation go undiagnosed and generally do not have kids with EDS (14:15).
The speaker details another ongoing study on a phenotype of EDS women with FXP (16:15). Preliminary evidence shows a protective effect where women with more severe EDS have fewer trinucleotide repeats than individuals without EDS. Casanova underscores that this evidence is preliminary and considers what more data will be able to reveal (18:15). She asserts that research is starting to show that EDS is a generalizable complex and complicated condition, very much like autism (21:00). The FMR1 gene plays a critical role in brain development and has altered expression levels in fibroblasts which produce connective tissue for the body (21:35). Casanova hopes to use FXS as a syndromic model to study EDS and the relationship to autism in a broader sense. She aims to have these studies published within the next year.
Shared symptoms in EDS and autism
Head discusses shared symptoms across autism and EDS, including ADHD, psychiatric disorders, and seizures. Sensory and coordination issues like motor development delay, pain and C-fiber denervation, and other visual and auditory sensory difficulties are common in both conditions (29:00). The speaker outlines autonomic symptoms observed in EDS such as high heart rate, hypotension, GI dysfunction (such as gastroparesis and chronic constipation), and blunted sympathetic nervous system (fight, flight, freeze response) reactivity. Autistic individuals also exhibit signs of autonomic dysfunction, including high resting heart rate, hypertension, larger pupils, increased respiration rate, and GI and bladder difficulties (32:00). She highlights that anxiety and other mood disorders are significantly linked to the autonomic dysfunction present in both conditions (27:10). Head explains that immune dysfunction is seen in both autism and EDS. However, the underlying mechanisms appear to be different. She underscores the role of maternal immune activation as a contributor to both conditions, though more research is needed (33:30).
Early signs of EDS
Head explains the difference between standard and unusual flexibility in children and notes the long-term personal consequences of going undiagnosed. Easy bruising, being “double jointed,” velvety/stretchy skin, and chronic joint/growing pains during childhood are early signs of EDS (34:30). Specific joints to look for hypermobility in children include elbows, shoulders, hips, and fingers. The speaker highlights that EDS is a spectrum and that not everyone with EDS will have all these symptoms (36:30). Most importantly, she continues, if you expect your child to have EDS, consult with a physician to determine next steps and potential genetic testing. Head draws on what would have helped her as a child with EDS and suggests physical therapy to teach muscle strength, posture, and developmental coordination (39:00). She highlights the gap in accessible care, especially for people who present more severely with autism and EDS, and underscores the need for clinics and practitioners to familiarize themselves with both conditions (40:30). The presenter urges viewers to listen to their bodies and speak up for themselves in clinical settings (42:00).
Question and answer session
Dr. Casanova and Head discuss the best options for adult diagnosis and highlight genetics clinics as a good place to begin (44:00). Head suggests a combination of genetic testing and physical evaluations and reiterates the need to be a self-advocate (48:00). Casanova considers where viewers can participate in ongoing research and notes the dramatic underrepresentation of minority groups in research and data analysis (50:00). She recalls the power of the autism community in pushing research forward and urges viewers to get similarly involved in research on EDS (53:00). Casanova defines SPARK as the major autism genome database whose goal is to collect 50,000 genome specimens of autistic individuals and their families without autism. The data is highly protected, and there are centers for genome collection across the U.S. (56:00).
Head describes the presentation of stimming in EDS as a way to calm the nervous system. The speakers highlight that stimming is seen across EDS, autism, and ADHD and can present very differently (58:15). She also discusses spine issues common in EDS, such as kyphosis, scoliosis, and closing spondylitis. Such conditions can affect height and lead to shrinking over time. They recommend seeing an orthopedist, neurologist, or other practitioners who are knowledgeable on spinal issues (1:00:15). Casanova notes a series of case studies on the FXP that viewers can use to discuss an FXP diagnosis with their practitioners (1:03:00). The presenters discuss sleep problems that are common in both EDS and autism. Primary insomnia, pain-related sleep disturbances, autonomic dysregulation, and the constant state of fight or flight can all contribute to sleep difficulties (1:05:30). Both presenters speak about their experiences with self-advocacy and the best way to interact with clinicians. Head recommends support groups online and reminds viewers that they know their bodies best. The presenters note the importance of feeling heard and believing young children when they say they are in pain (1:07:00).
Learn about Ehlers-Danlos Syndromes (EDS), their relationship to autism, and hear about the current research in this area.