Symptom complaints and impact on functioning in youth with hypermobile Ehlers–Danlos syndrome

Abstract

Hypermobile Ehlers–Danlos syndrome (hEDS), a genetic connective tissue disorder, involves several body systems which makes symptom management and functioning difficult. The aim of this study was to understand pediatric hEDS patients’ symptoms and primary complaints. Additionally, we examined the cumulative impact of symptoms on physical and psychological functioning. Thirty-four youth with hEDS were recruited from a genetics clinic and reported the hardest thing about having hEDS, their pain, fatigue, physical symptoms, functional disability, anxiety, and depression. Physical symptoms (pain and fatigue) and limitations (keeping up with friends) were reported as the most difficult parts of having hEDS. A higher number of somatic symptoms was the strongest predictor of disability, anxiety, and depression. Physical symptoms are subjectively distressing and significantly related to impairments in physical and psychological functioning. Thus, addressing these varied symptoms in treatment may yield better functioning in youth with hEDS.

Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

“…As previously mentioned, pediatric EDS and JHS populations report greater pain intensity than healthy age-matched controls [21] as well as numerous locations of pain [30,33]. Recently, a study of youth (aged 8-17 years old) with hEDS reported on the intensity and extent of pain [33]. On a valid and reliable assessment of children's pain intensity [34], with an 11 point numeric rating scale, ranging from "no pain" (0) to "worst pain I can imagine" (10), respondents indicated an average pain intensity of 5.53 (SD = 2.6), indicating on average moderate pain.…”

“…As previously mentioned, pediatric EDS and JHS populations report greater pain intensity than healthy age-matched controls [21] as well as numerous locations of pain [30,33]. Recently, a study of youth (aged 8-17 years old) with hEDS reported on the intensity and extent of pain [33].…”

“…On a valid and reliable assessment of children's pain intensity [34], with an 11 point numeric rating scale, ranging from "no pain" (0) to "worst pain I can imagine" (10), respondents indicated an average pain intensity of 5.53 (SD = 2.6), indicating on average moderate pain. Similarly, on the Widespread Pain Index (WPI) a 19-item inventory indicating the occurrence of pain in 19 defined body locations, youth indicated pain in an average of 7.06 locations (SD = 5.07) [33]. The widespread nature of this pain is notable, as a WPI score greater than 7 (coupled with a Symptom Severity Score greater than 5, also endorsed by the aforementioned sample) is considered clinically indicative of a diagnosis of fibromyalgia [35].…”

“…Musculoskeletal pain sites in JHS and EDS have been well reported on, with several studies describing the joints reported as most impacted by pain in pediatric populations. In a recent study of children and adolescents with hEDS [33], the most commonly reported pain locations were the lower back, neck and shoulders, with over half the sample reporting pain in each of the aforementioned sites. Similarly, findings from a retrospective medical record review of youth (ages 6 through 19) with a variety of types of EDS (55.6% hEDS) indicated that the most common sites of presenting pain were the knee (43.4%), back (32.2%) and shoulder (31.2%) [36].…”

“…Headaches present with relative frequency among hypermobile pediatric patients, with 40% of children with JHS presenting with headaches [33,37]. Additionally, headaches are described in several case studies of children with classical EDS.…”