Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

McGillis, Laura; Mittal, Nimish; Mina, Daniel Santa; So, Joyce; Soowamber, Medha; Weinrib, Aliza; Soever, Leslie; Rozenberg, Dmitry; Liu, Louis; Tse, Yvonne; Katz, Joel; Charames, George S.; Murphy, Kieran J.; Vadas, Peter; Slepian, Maxwell; Walsh, Scott; Wilson, Lindsay; Adler, Arnon; Franzese, Alyssa; Hussey, Laura; Nevay, Dayna‐Lynn; Guzmán, Juan C.; Clarke, Hance

doi:10.1002/ajmg.a.61459

Cited by 23 publications

(33 citation statements)

References 29 publications

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“…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 15 Most of the key observed symptoms were somewhat more common in the hEDS group than the HSD group, although only fatigue and a diagnosis of ADHD were significantly more common; this is what we expected because these are criteriabased diagnoses, and more criteria are required for a hEDS diagnosis than for HSD. However, none of these associated symptoms are included in the hEDS or HSD criteria.…”

Section: Discussionmentioning

confidence: 77%

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Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study

Kindgren¹,

Pérez²,

Knez³

2021

NDT

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Introduction Hypermobility spectrum disorders (HSD) and hypermobile Ehlers-Danlos syndrome (hEDS) are both characterized by generalized hypermobility, in combination with pain, affected proprioception, and pronounced fatigue. Clinical observation indicates that behavioral problems, hyperactivity, and autistic traits are overrepresented in children with those conditions. The purpose of this retrospective study was to establish the prevalence of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) among children with HSD and hEDS treated in our clinic since 2012. Subjects and Methods Since Ehlers-Danlos syndrome (EDS) diagnostic criteria and international classification were changed in 2017, we equate the older diagnosis EDS hypermobility type with the newer hEDS and the older hypermobility syndrome with HSD. A registry search from the computerized medical record system found 201 children (88 boys, 113 girls) aged 6–18 years who were treated at our 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 diagnosis of ADHD/ASD, were recorded. Results All EDS cases could be classified as hEDS. Of the entire study cohort, 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 (p=0.02). 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.

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Section: Discussionmentioning

confidence: 77%

“…Neuropsychiatric Disease and Treatment 2021:17 380 our retrospective study can be relevant to future clinical work because, for example, one study found a similar frequency of comorbidities of hEDS (such as gastrointestinal dysfunction and psychological comorbidities) in those patients who met the new criteria and those who did not. 15…”

Section: Dovepressmentioning

confidence: 99%

Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study

Kindgren¹,

Pérez²,

Knez³

2021

NDT

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“…Patients who do not meet enough criteria for hEDS are often diagnosed with HSD or may lose a previous diagnosis after the new 2017 criteria, despite hEDS/HSD being indistinguishable in regard to severity of symptoms. 95,96 Because of this, the 2017 diagnostic criteria have received much criticism. 95…”

Section: Col1a1mentioning

confidence: 99%

“…It is essential that physicians recognize signs of hypermobility and ligament laxity early on and make necessary recommendations and referrals to prevent chronic joint damage and complications of the disease. Patients who do not meet enough criteria for hEDS are often diagnosed with HSD or may lose a previous diagnosis after the new 2017 criteria, despite hEDS/HSD being indistinguishable in regard to severity of symptoms 95,96 . Because of this, the 2017 diagnostic criteria have received much criticism 95 …”

Section: Diagnostic Criteriamentioning

confidence: 99%

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

Gensemer

Burks

Kautz

et al. 2020

Developmental Dynamics

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The Ehlers-Danlos syndromes (EDS) are a group of heritable, connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. There is phenotypic and genetic variation among the 13 subtypes. The initial genetic findings on EDS were related to alterations in fibrillar collagen, but the elucidation of the molecular basis of many of the subtypes revealed several genes not involved in collagen biosynthesis or structure. However, the genetic basis of the hypermobile type of EDS (hEDS) is still unknown. hEDS is the most common type of EDS and involves generalized joint hypermobility, musculoskeletal manifestations, and mild skin involvement along with the presence of several comorbid conditions. Variability in the spectrum and severity of symptoms and progression of patient phenotype likely depend on age, gender, lifestyle, and expression domains of the EDS genes during development and postnatal life. In this review, we summarize the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS with a focus on the hypermobile type.

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“…That may not matter, because the new criteria have been criticized for being too restrictive. McGillis et al 18 reported that the 2017 diagnostic criteria leave many highly symptomatic patients without a diagnosis. Further, the newest diagnostic criteria have not been validated and, thus, require refi nement to improve their diagnostic accuracy.…”

Section: Date Of Her Diagnosis Importantmentioning

confidence: 99%

A 21-year-old woman with Ehlers-Danlos syndrome and persistent lightheadedness

Qarajeh

Derbas

Abdallah

et al. 2021

CCJM

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Utilization of the 2017 diagnostic criteria for hEDS by the Toronto GoodHope Ehlers–Danlos syndrome clinic: A retrospective review

Cited by 23 publications

References 29 publications

Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study

Prevalence of ADHD and Autism Spectrum Disorder in Children with Hypermobility Spectrum Disorders or Hypermobile Ehlers-Danlos Syndrome: A Retrospective Study

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

A 21-year-old woman with Ehlers-Danlos syndrome and persistent lightheadedness

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