Introduction
Multiligament laxity in children and adolescents results from underlying joint hypermobility. Joint hypermobility (JH) is defined as the “capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.” Joint hypermobility that is localized to a less than five joints is called as localized joint hypermobility (LJH). Whereas joint laxity at five or more joints is called generalized joint hypermobility (GJH) and typically genetic in nature, but may be acquired secondary to other conditions such as endocrine disorders, widespread inflammation, or malnutrition. The most common form of inherited GJH is Ehlers–Danlos syndrome (EDS). Throughout this chapter, we will refer to the phenomenon of multiligament laxity as JH.
The prevalence of JH among school-aged children has been reported to range from 16% to 35% when diagnosed using the Beighton scale ( Table 16.1 ). Although the prevalence of joint hypermobility is similar between prepubescent females and males, following puberty females demonstrate increased joint laxity while the prevalence is unchanged in males. Joint hypermobility may be present, but unrecognized until the time of injury or onset of joint pain.
| Left | Right | |
|---|---|---|
| 1. Passive dorsiflexion and hyperextension of the fifth MCP joint beyond 90 degrees | 1 | 1 |
| 2. Passive apposition of the thumb to the flexor aspect of the forearm | 1 | 1 |
| 3. Passive hyperextension of the elbow beyond 10 degrees | 1 | 1 |
| 4. Passive hyperextension of the knee beyond 10 degrees | 1 | 1 |
| 5. Active forward flexion of the trunk with the knees fully extended so that the palms of the hands rest flat on the floor | 1 | 1 |
| TOTAL | /9 | |
GJH in children is associated with symptoms of joint pain and fatigue, and GJH in children is associated with a greater risk of joint pain in adolescence. The symptoms of joint pain, fatigue, and stress incontinence have been found to negatively impact quality of life in children with JH. Poor activity tolerance is common, as is exercise tolerance. Eighty-one percent of children receiving care in a rheumatology practice report pain exacerbation with exercise participation. Recurrent joint dislocations and soft tissue injury can lead to chronic joint pain and instability. Additionally, children may demonstrate altered proprioception and impaired coordination.
Children/adolescents with JH may present with comorbidities including functional gastrointestinal disorders, neurogenic bladder sphincter dysfunction (more frequently manifested as constipation in males and urinary incontinence in females), headaches, sleep disturbance, and/or postural orthostatic tachycardia syndrome. Children and adults with joint hypermobility exhibit a low pain pressure threshold and increased incidence of hyperalgesia as compared to healthy controls. Adults with joint hypermobility have a higher incidence of anxiety and depression as compared to individuals without joint hypermobility. Kinesiophobia (irrational and debilitating fear of physical movement and activity resulting from a feeling of vulnerability to painful injury or reinjury) is also common in adults with JH. Psychological comorbidities have not been studied in children and adolescents, but have been noted to be a common finding in our clinical experience.
In a 3-year longitudinal cohort study evaluating the natural history of hypermobility and JH in children, those children who presented with more multisystemic comorbidities, poor postural control, and higher levels of pain and fatigue at baseline were most likely to have progressive worsening of symptoms and disability. In children who present with multisystemic comorbidities, coordinated multidisciplinary care is recommended.
When individuals with multiligamentous laxity have underlying JH, the diagnosis of the JH is often delayed. With delayed diagnosis, the child/adolescent may have developed chronic pain, making treatment of the condition more complex. Additionally, children and adolescents may have experienced prior unsuccessful attempts of therapy. Yet, physical therapy is considered the standard treatment for JH. Occupational therapy and physical therapy that is holistic in addressing JH is the most effective technique. This allows the therapeutic exercises to be focused on addressing the patient’s goals and aimed at addressing the condition’s chronicity rather than only the acute symptoms.
Classification
Initial classification of JH was based on phenotypical variants noted to have characteristic physical examination findings. Advancements in genetic testing, combined with the clinical recognition of additional subtypes, have refined and expanded the classification into 13 separate subtypes ( Table 16.2 ). The hypermobile subtype of EDS does not have an associated gene defect and is thought to be genetically heterogenous. This subtype is inherited in an autosomal dominant fashion, and the diagnosis is made on the basis of rigidly applied physical examination findings including a Beighton score <SPAN role=presentation tabIndex=0 id=MathJax-Element-1-Frame class=MathJax style="POSITION: relative" data-mathml='≥5′>≥5≥5
≥ 5
.
| Clinical EDS Subtype | Abbreviation | IP | Genetic Basis | Protein | |
|---|---|---|---|---|---|
| 1 | Classical EDS | cEDS | AD | Major: COL5A1, COL5A1 | Type V collagen |
| Rare: COL1A1 | Type I collagen | ||||
| c.934C>T, p.(Arg312Cys) | |||||
| 2 | Classical-like EDS | clEDS | AR | TNXB | Tenascin XB |
| 3 | Cardiac-valvular | cvEDS | AR | COL1A2 (biallelic mutations that lead to COL1A2 NMD and absence of pro α2(I) collagen chains) | Type I collagen |
| 4 | Vascular EDS | vEDS | AD | Major: COL3A1 | Type III collagen |
| Rare: COL1A1 | Type I collagen | ||||
| c.934C>T, p.(Arg312Cys) | |||||
| c.1720C>T, p.(Arg574Cys) | |||||
| c.3227C>T, p.(Arg1093Cys) | |||||
| 5 | Hypermobile EDS | hEDS | AD | Unknown | Unknown |
| 6 | Arthrochalasia EDS | aEDS | AD | COL1A1, COL1A2 | Type I collagen |
| 7 | Dermatosparaxis EDS | dEDS | AR | ADAMTS2 | ADAMTS-2 |
| 8 | Kyphoscoliotic EDS | kEDS | AR | PLOD1 | LH1 |
| FKBP14 | FKBP22 | ||||
| 9 | Brittle cornea syndrome | BCS | AR | ZNF469 | ZNF469 |
| PRDM5 | PRDM5 | ||||
| 10 | Spondylodysplastic EDS | spEDS | AR | B4GALT7 | β4GalT7 |
| B3GALT6 | β3GalT6 | ||||
| SLC39A13 | ZIP13 | ||||
| 11 | Musculocontractural EDS | mcEDS | AR | CHST14 | D4ST1 |
| DSE | DSE | ||||
| 12 | Myopathic EDS | mEDS | AD or AR | COL12A1 | Type XII collagen |
| 13 | Periodontal EDS | pEDS | AD | C1R | C1r |
| C1S | C1s |
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