Prevalence of ADHD and Autism Spectrum Disorder in Children with HSDs or hEDS: A Retrospective Study (2021)

ADHD & Autism are way overrepresented in hEDS/HSD patients

Authors: Erik Kindgren, Antonia Quiñones Perez, Rajna Knez

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. Neuropsychiatr Dis Treat. 2021;17:379-388 https://doi.org/10.2147/NDT.S290494

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Introduction

Introduction points:

• there have been several studies showing a positive association between Ehlers Danlos Syndrome/Hypermobility Spectrum Disorders (EDS/HSD) and ADHD &/or Autism (->¹²³ <-)

• Science still doesn’t fully understand the etiology/causes of most instances of ADHD or Autism.

They also summarize Baeza-Velasco et al’s⁴ explanatory model which had 4 possible (and not mutually exclusive) ways that ADHD & hypermobility might be related. (our current authors’ words, but paragraph breaks added by me):

1. impaired proprioception and, consequently, situations where maintaining motor competences may overload executive functions and attention;

2. musculoskeletal pain that may directly affect attention and concentration;

3. a link between dysautonomia (which is overrepresented in HSD and hEDS) and cognitive difficulties; and

4. ADHD and hypermobility having different expressions with a common genetic background.

(See end of this post for the Methods section to understand how they did this study.)

The Study

“The results show that 16% of children with HSD or hEDS also have a verified ADHD diagnosis, which is more than three times higher than the expected rate (about 5%).

The rate of ASD among children with HSD or hEDS was also higher, approximately twice the expected rate.”

The children who had ADHD/Autism/Neuropsych diagnoses/symptoms also showed

• a higher rate of fatigue, sleep disorders, and urinary tract problems,

• but not higher rates of pain, interestingly.

They also observed that the older kids had ADHD diagnoses at significantly higher rates than the younger kids. This makes sense, as people get diagnosed at any age, and the harder the school/life gets, the more frequently folks notice there’s an issue. But it raises the important point that just because a study has a “does not have ADHD(/Autism/EDS/HSD)” group.. doesn’t mean those numbers are actually correct. Lots of people with lots of conditions just haven’t been diagnosed yet.

Very notably, 15% of local 17-18 year olds without EDS/HSD had an ADHD diagnosis. Whereas almost half of the 17-18 year olds with EDS/HSD had an ADHD diagnosis. (!!)

The authors point out that other studies have found different rates (however, their subjects were not children/teens. Younger folks are more likely to have an ADHD diagnosis than folks who went through school/parental observation years before ADHD was even a recognized diagnosis, or back when they thought only boys had it, etc etc):

Castori et al⁵ found ADHD in 34.8% (8 out of 23) of Joint Hypermobility Syndrome/EDS Hypermobile Type (adult) patients.

Cederlöf et al⁶ used the Swedish Patient Register, and including all ages and all types of EDS, and found that:

• 4.3% of EDS patients had an ADHD diagnosis (but only 0.8% of controls did).

• Siblings of EDS patients also had increased rates of ADHD compared to controls’ siblings.

• The same study showed that 3.0% of Swedes with Hypermobility Syndrome had ADHD compared to 0.5% in the control group… though they’re just summarizing and so i’m not clear on why those two control group numbers are different.

• 2.9% of EDS patients had an autism diagnosis (vs 0.4% of controls),

• and 1.6% of HSD patients had an autism diagnosis (v. 1.2% of controls [i repeat my confusion with these numbers tho])

And the authors pointed out that while other studies have shown higher rates of ADHD in HSD rather than EDS, their current study showed significantly higher ADHD rates in EDS vs HSD.

Nerdy Note: Considering the lack of science behind the hEDS diagnostic criteria⁷ (and the lack of HSD criteria at all), I have never seen any reason to really pay attention to any differences between hEDS/HSD, and most research i’ve seen also does not even find it worth making a distinction.⁸ That might be why the data conflicts, because it’s not a scientifically solid marker.

EDS/HSD, ADHD, & various symptoms

“The degree of hypermobility (according to the Beighton scale) showed no relation to the degree of associated symptoms, which suggests that hypermobility is only a subsymptom; this has recently been confirmed by McGillis et al.⁹ "

👆 This is what i’ve been saying for years now. Happy to see fancy people saying it! 👆

→ The authors found that over half of the EDS/HSD had at least one gastrointestinal tract issue, with constipation being the most common (in over 2/5ths of patients).

• Kids with HSD + ADHD had gastritis & reflux at significantly higher rates, which is in line with other research showing an ADHD + reflux connection.¹⁰
  

→ Urinary Incontinence was seen in 1 out of 8 children in this study, and the kids with an ADHD diagnosis had a significantly higher rate of urinary tract problems, which is also backed up by previous research showing an ADHD + overactive bladder connection.¹¹

→ The authors expected to find higher rates of pain in those children with concurrent ADHD diagnosis, as previous studies have suggested that ADHDers may have increased pain sensitivity (which can be reduced with methylphenidate (Ritalin/Concerta)),¹² but this study didn’t find a difference in reported pain, nor in frequency of pain reported in ADHDers who are on methylphenidate.

→ Almost half of the 201 subjects in this study had reported sleep problems, and sleep problems and fatigue were over-represented in the ADHD and/or Autistic kids. Sleep problems + ADHD/Autism is already a well known thing¹³¹⁴¹⁵ so the authors mention that

”The central symptom of fatigue in HSD and hEDS may be associated with sleep problems and coexisting neurodevelopmental disorders.”

🤔 🤔

Interestingly, fewer sleep problems were found in ADHD kids who were being treated with stimulants (Ritalin, Adderall, etc), though it didn’t reach statistical significance, but it was enough of a pattern that they called it out for being worthy of further study.

Also, more than 9 in 10 autistic EDS/HSDers in this study had sleep problems! That’s so many! 😮

Conclusions

This study points out how important it is for doctors to “actively and systematically ask[] children & their caregivers about associated symptoms” of EDS/HSD. We know that certain symptoms/conditions are commonly found in EDS/HSD, and physicians need to make sure a patient isn’t missing out on treatment for any of them just because they may not have thought to mention these seemingly unrelated symptoms.

“In summary, this study showed an unexpectedly large association between neuropsychiatric symptoms and HSD or hEDS.

The frequency of sleep disorders was also unexpectedly high.

The results of this study indicate that children with these diagnoses [EDS/HSD] may need to be screened for neuropsychiatric symptoms and preferably also for sleep disorders.”

How they did this study (Methods):

This retrospective study involved looking at existing medical records. The authors searched the digital medical records of patients at the pediatric and youth medicine clinic at Skaraborg Hospital, Sweden digital medical record system for:

• 6-18 year olds

• with a recorded diagnosis of Q79.6 Ehlers-Danlos syndrome or M35.7 Hypermobility syndrome (ICD-10)

• between the years 2012-2018

They found 113 kids with HSD and 88 with EDS (201 all together). They then looked at the records for all 201 of them, and recorded the following info:

“gender, age, place of residence, diagnosis, age at diagnosis, Beighton hypermobility score, fatigue, pain, sleep problems, snoring, sleep apnea, continuous positive airway pressure (CPAP) treatment, abdominal pain, constipation, diarrhea, reflux, gastritis, nausea, nutritional problems in childhood, urinary tract problems, ADHD, age at ADHD diagnosis, pharmacological treatment for ADHD, suspected ADHD, autism, Asperger’s syndrome, fulfilment of the old Villefranche criteria for EDS hypermobility type (EDS-ht) from 1997, and fulfilment of the new criteria for hEDS from 2017.

They said that they chose the symptoms to focus on (“fatigue, pain, sleep problems, gastrointestinal symptoms, urinary tract problems, and neuropsychiatric symptoms”) was “based on clinical experience with the patient group in the study.”

“Our results are dependent on what questions the doctor posed at the time of the examination and whether the answer was recorded. We can thus expect our figures to be somewhat low, compared to systematically asking each patient about all these associated symptoms.”

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If you’re in any ADHD/Autism/EDS-HSD groups online, you probably see a lot of posts about the other things, so anecdotally it very, very much seems that these things are related. So this study is handy to show that it’s not just anecdotal! The EDS/HSD kids in this study were 3x more likely to have ADHD & 2x more likely to be Autistic than non-EDS/HSD kids! That’s kinda huge, tbh..

Who else out there is part of the ADHD &/or Autistic EDS/HSDer club? ✋ 👋

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Comments are open for discussion, as well as if you have a correction or clarification of anything in this post!

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Citations:

1. Wasim S, Suddaby JS, Parikh M, et al. Pain and gastrointestinal dysfunction are significant associations with psychiatric disorders in patients with Ehlers–Danlos syndrome and hypermobility spectrum disorders: a retrospective study. Rheumatol Int. 2019;39 (7):1241–1248. doi:10.1007/s00296-019-04293-w

2. Baeza-Velasco C, Cohen D, Hamonet C, et al. Autism, joint hypermobility-related disorders and pain. Front Psychiatry. 2018;9:656.

3. Cederlof M, Larsson H, Lichtenstein P, Almqvist C, Serlachius E, Ludvigsson JF. Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry. 2016;16:207. doi:10.1186/s12888-016-0922-6

4. Baeza-Velasco, Autism, joint-hypermobility-related..

5. Castori M, Dordoni C, Valiante M, et al. Nosology and inheritance pattern (s) of joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type: a study of intrafamilial and interfamilial variability in 23 Italian pedigrees. Am J Med Genet A. 2014;164 (12):3010–3020. doi:10.1002/ajmg.a.36805

6. Cederlof M, Larsson H, Lichtenstein P, Almqvist C, Serlachius E, Ludvigsson JF. Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers-Danlos syndrome or hypermobility syndrome and their siblings. BMC Psychiatry. 2016;16:207. doi:10.1186/s12888-016-0922-6

7. Malek, S., Reinhold, E.J. & Pearce, G.S. The Beighton Score as a measure of generalised joint hypermobility. Rheumatol Int41, 1707–1716 (2021). https://doi.org/10.1007/s00296-021-04832-4

8. Tinkle BT, Bird HA, Grahame R, et al. The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A. 2009; 149A(11):2368–2370

9. McGillis L, Mittal N, Santa Mina D, et al. Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers– Danlos syndrome clinic: a retrospective review. Am J Med Genet A. 2020;182(3):484–492. doi:10.1002/ajmg.a.61459

10. Effatpanah M, Motamed F, Najafi M, et al. Prevalence of attention deficit hyperactivity disorder in pediatrics patients newly diagnosed with gastroesophageal reflux disease. Int J Pediatr. 2017;5 (9):5609–5616

11. Yousefichaijan P, Sharafkhah M, Rafiei M, Salehi B. Attention-deficit /hyperactivity disorder in children with overactive bladder; a case-control study. J Ren Inj Prev. 2016;5(4):193. doi:10.15171/ jrip.2016.41

12. Wolff N, Rubia K, Knopf H, et al. Reduced pain perception in children and adolescents with ADHD is normalized by methylphenidate. Child Adolesc Psychiatry Ment Health. 2016;10:24. doi:10.1186/s13034-016-0112-9

13. Miano S, Ferri R. Epidemiology and management of insomnia in children with autistic spectrum disorders. Paediatr Drugs. 2010;12 (2):75–84. doi:10.2165/11316140-000000000-00000

14. Eyuboglu M, Eyuboglu D. Behavioural sleep problems in previously untreated children with attention deficit hyperactivity disorder. Psychiat Clin Psych. 2018;28(1):19–24

15. Mazzone L, Postorino V, Siracusano M, Riccioni A, Curatolo P. The relationship between sleep problems, neurobiological alterations, core symptoms of autism spectrum disorder, and psychiatric comorbidities. J Clin Med. 2018;7(5):102. doi:10.3390/jcm7050102