Autism in the hEDS patient

Ross Hauser, MD

Many children and young adults suffer from a myriad of difficult symptoms, not only for the parents, but their care providers to understand. In this article, we will review research that suggests a link between Autism spectrum disorders (ASDs) and hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD). In brief, this connection is speculated to be caused by one of many challenges. There is speculation that collagen deficiencies that cause joint hypermobility may play a role in the underdevelopment of certain portions of the brain that may lead to autism-like symptoms. Also being explored are hyperactive immune symptoms and orthostatic intolerance (postural changes that worsen symptoms) such as a diagnosis of Postural tachycardia syndrome. The orthostatic intolerance would be more interested in a musculoskeletal clinic such as ours. In this scenario, we would examine possible impediments to blood flow into and out of the brain as well as cerebral fluid backups in the brain.

An email describes a patient with such problems: My 21-year-old daughter is autistic and although at the high end of the spectrum, she now suffers from brain fog that is causing her to be more disabled. She has had debilitating neck pain for about a year. It is crackling all the time and the sound makes her nauseous. She has had daily headaches for over five years. Her neurologist told her to exercise, get off her phone, sleep, and eat better. She has been diagnosed with Autism, Generalized Anxiety Disorder, Major Depressive Disorder, etc. She has been on tons of medications from various psychiatrists, GI doctors, cardiologists, etc… She is now homebound and in bed half the day. (The email has been edited for clarity).

Another email describes stability when standing: My 13-year-old son has difficulty staying stable while standing, he is pumping his ears, constantly clearing his throat, and twitching his mouth. Muscle tension and spasms all over the body. He has an autism diagnosis, focus, and learning difficulties. (The email has been edited for clarity).

Another 13-year-old son: My 13-year-old son is diagnosed with nonverbal autism. He has problems with emotions and pain, he is continuously moving/adjusting his neck, pumping ears, making sounds, and fidgeting with fingers. . . Has mouth ulcers all the time seem to be stress-related. We suspect there is nerve pinching in the neck and upper body. (The email has been edited for clarity).

Autism in the HEDS patient

There is growing evidence that the enteric nervous system (the part of the nervous system that helps control motor functions, blood flow, and immune and endocrine functions dysfunction) is involved at least in part in the development of autism spectrum disorders.

In February 2022, in the journal Frontiers in Psychiatry (1) researchers write: “Autism spectrum disorder (ASD) and generalized joint hypermobility (GJH) share several clinical manifestations including proprioceptive impairment (the sense of knowing whether you are standing on a hard surface or soft surface, the ability to stand on one leg), motor difficulties, sensory hypersensitivity, and autonomic dysfunction. Clinical observations suggest that generalized joint hypermobility (GJH) is overrepresented in Autism spectrum disorder (ASD). However, there are currently few systematic studies available.”

The researchers’ aim then was to evaluate the relationship between autism and generalized joint hypermobility (GJH) in adults. What they found was that there was a high prevalence of comorbid ADHD in the study sample impacting the findings among individuals with Autism without comorbid ADHD. They write: (Because of the prevalence of ADHD, (an additional ADHD phenotype is the primary driver of the association between autism and generalized joint hypermobility.)

An August 2022 paper in the journal Frontiers in Psychiatry (2) examined similarities between Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) as both diagnoses  share some clinical characteristics such as alexithymia (problems of feeling emotions), sensory sensitivity, and interoceptive (not understanding sensation in one’s own body, for instance, not understanding hunger)) issues. The authors write: “Recent evidence shows that both the disorders present symptoms compatible with a diagnosis of hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD) . . . (In this study they) compared the prevalence of Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD) -related symptoms in a group of patients with functional neurological disorders (FNDs), of people with Autism spectrum disorders without intellectual disabilities, and a non-clinical comparison group.”

Twenty patients with functional neurological disorders, 27 individuals with Autism spectrum disorders without intellectual disabilities, and 26 non-clinical control groups were enrolled in the study and completed the Self-reported screening questionnaire for the assessment of Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD)-related symptoms.

  • (The study found) found “both Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) individuals present hEDS/HSD-related symptoms in a higher number than the general population.
  • Linked mechanisms include:
    • overwhelming of executive functions with consequent motor competence impairment for ASDs individuals and
    • exacerbation of functional neurological disorders symptoms by physical injury and chronic pain due to abnormal range of joint mobility.
    • Moreover, the researchers speculated that the amygdala (the brain’s center for processing emotions) and the anterior cingulate cortex circuitry (for mood and emotion) might be responsible for the imbalances at the proprioceptive (sense of time, motion, and space in movement), interoceptive (sense of hunger, illness, pain), and emotional levels.

In a February 2021 paper, researchers in Sweden wrote in the journal Neuropsychiatric Disease and Treatment (3) “Clinical observation indicates that behavioral problems, hyperactivity, and autistic traits are overrepresented (occurs with frequency) in children with Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS). . . ” The purpose of their study then was to “establish the prevalence of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) among children with Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD). . . ”

The researchers examined the medical records of pediatric patients treated at their clinic at the Department of Pediatrics, Skaraborg Hospital, in Sweden since 2012.

  • In all 201 children (88 boys, 113 girls) aged 6-18 years were treated at their pediatrics department with the diagnoses HSD or EDS.
  • All medical records (113 with HSD, 88 with EDS) were reviewed, and key symptoms such as fatigue and pain, as well as a diagnosis of ADHD/ASD, were recorded.

The researchers summarized their findings: “Of the entire study (group), 16% had a verified ADHD diagnosis and a further 7% were undergoing ADHD diagnostic investigation. Significantly more children with hEDS had ADHD compared to children with HSD.”

  • In the age group 15-16 years, 35% of those with hEDS had ADHD and, among those aged 17-18 years, ADHD was present in 46%.
  • Children with coexisting ADHD showed a significantly higher proportion of associated symptoms such as fatigue, sleep problems, and urinary tract problems.
  • ASD had been verified in 6% of the children. Of those with ASD, 92% had sleep problems.

Conclusion: “This study shows a strong association between HSD or hEDS and ADHD or ASD. Therefore, children with HSD or hEDS may need to be routinely screened for neuropsychiatric symptoms.”

An umbrella diagnosis of Autism? Is there a connection to the Vagus nerve?

Here is an email, (it has been edited for clarity). I am inquiring about my 11-year-old son. He has suffered from motor and vocal tics, OCD, anxiety, brain fog, ADD, depression, and now ear pain. He was diagnosed with PDD (pervasive developmental disorder) which is now grouped into Autism however several psychiatrists have stated that he does not display classic ASD symptoms such as repetitive and rigid behavior, and lacks nonverbal receptive communication. He is actually the opposite, he’s very empathetic, connects with people easily, gets bored easily, and can read tons of nonverbal cues. He complains of feeling a lot of pressure in his head. His Craniosacral therapist has told me that his issue is his vagus nerve.  

Please see my article: Vagus nerve compression in the neck: Symptoms and treatments.

Looking at adult patients and possible connections between Autism and Hypermobility spectrum disorder

These are the symptoms told to us via email by an adult patient: “Hypermobility spectrum disorder, POTS/orthostatic hypotension, severely unstable head and neck position, multiple daily subluxations from C1-8 and into T-spine, collapsed posture while sitting and standing, gait and muscle activation problems, myofascial pain disorder, TMJ, mast cell activation syndrome (numerous dietary, environmental, and sensory triggers) and various neuropsych presentations such as autism spectrum disorder, sensory processing disorder, focus issues, and brain fog. (Long-term and secondary symptoms) include peripheral neuralgia in hands, arms, feet due to stresses of supporting head, upper body, and gait problems.”

Cervical Spine Instability in the hEDS patient A video explanation with Ross Hauser, MD.

Video summary and learning points:

When a person comes to our center with hEDS or any genetic hyperextensible condition where a person has joint instability, a history of dislocating joints, or their joints are hyper-flexible is to assess the amount of neck instability the person has.

  • If a person with hEDS has neck instability that neck instability can cause things such as postural orthostatic tachycardia syndrome, Mast Cell Activation Syndrome, and digestive problems, besides other symptoms such as migraine headaches, dizziness, ringing in the ears, concentration difficulties, and terrible fatigue among other symptoms.

References

1 Glans MR, Thelin N, Humble MB, Elwin M, Bejerot S. The Relationship Between Generalised Joint Hypermobility and Autism Spectrum Disorder in Adults: A Large, Cross-Sectional, Case Control Comparison. Frontiers in psychiatry. 2021;12. [Google Scholar]
2 Nisticò V, Iacono A, Goeta D, Tedesco R, Giordano B, Faggioli R, Priori A, Gambini O, Demartini B. Hypermobile spectrum disorders symptoms in patients with functional neurological disorders and autism spectrum disorders: A preliminary study. Frontiers in Psychiatry. 2022 Aug 24;13:943098. [Google Scholar]
3 Kindgren E, Quiñones Perez A, Knez R. Prevalence of ADHD and autism spectrum disorder in children with hypermobility spectrum disorders or hypermobile Ehlers-Danlos syndrome: a retrospective study. Neuropsychiatric disease and treatment. 2021 Feb 10:379-88. [Google Scholar]

This article was updated November 24, 2023

 

Get Help Now!

You deserve the best possible results from your treatment. Let’s make this happen! Talk to our team about your case to find out if you are a good candidate.