Ehlers-Danlos Syndromes (EDS) in Children: Understanding, Symptoms, Diagnosis, and Management

What is EDS syndrome in kids?

Ehlers-Danlos Syndromes (EDS) are a group of inherited connective tissue disorders that can profoundly affect children, primarily characterized by joint hypermobility, skin hyperextensibility, and tissue fragility, leading to a spectrum of symptoms ranging from mild to severe.

Understanding Ehlers-Danlos Syndromes (EDS)

Ehlers-Danlos Syndromes (EDS) represent a clinically and genetically diverse group of inherited disorders that primarily affect connective tissues. Connective tissue is the ubiquitous "glue" that provides strength, elasticity, and support to virtually all structures in the body, including skin, joints, blood vessels, bones, and organs. At the heart of EDS lies a genetic mutation that impacts the production or processing of collagen, a crucial protein that forms the structural framework of connective tissues, or related proteins. This fundamental defect results in tissues that are abnormally fragile, stretchy, or lax.

How EDS Affects Children

In children, the manifestations of EDS can be particularly impactful due to their ongoing growth and development. The compromised integrity of connective tissue can lead to a range of issues, including:

• Joint Hypermobility: Joints may have an unusually large range of motion, often described as being "double-jointed." While this might seem advantageous, it signifies instability, making joints prone to subluxations (partial dislocations) and full dislocations.
• Chronic Pain and Fatigue: The constant strain on ligaments, tendons, and muscles trying to stabilize hypermobile joints, combined with inflammation and autonomic dysfunction, frequently leads to persistent pain and debilitating fatigue.
• Skin Fragility: The skin may be unusually soft, velvety, stretchy, and prone to easy bruising, slow wound healing, and distinctive "cigarette paper" scars.
• Systemic Involvement: Beyond the musculoskeletal system, EDS can affect various other body systems, impacting gastrointestinal function, cardiovascular health, and the autonomic nervous system.

These issues can significantly influence a child's motor development, participation in physical activities, and overall quality of life.

Key Types of EDS Relevant to Children

While there are 13 recognized types of EDS, each with distinct genetic causes and clinical features, some are more commonly encountered in pediatric populations or have significant implications for movement and physical activity:

• Hypermobile EDS (hEDS): This is the most common type of EDS and is diagnosed clinically, as there is currently no specific genetic test. Its hallmark features are widespread joint hypermobility, chronic pain, fatigue, and frequently, autonomic dysfunction (e.g., Postural Orthostatic Tachycardia Syndrome - POTS) and gastrointestinal issues. Given its prevalence and musculoskeletal focus, hEDS is often the primary concern for fitness professionals.
• Classical EDS (cEDS): Characterized by significant skin hyperextensibility, velvety skin, fragile tissues, and abnormal wound healing with characteristic "cigarette paper" scars. Joint hypermobility is also common but usually less severe than in hEDS.
• Vascular EDS (vEDS): This is a more severe, albeit rarer, form. It affects blood vessels and internal organs, making them fragile and prone to rupture. Extreme caution is required with physical activity in children with vEDS due to the risk of life-threatening complications.

Common Signs and Symptoms in Children

Recognizing EDS in children can be challenging as symptoms can vary widely and overlap with other conditions. Common signs and symptoms include:

• Musculoskeletal System:
  • Extreme flexibility: "Double-jointed" knees, elbows, fingers, and spine.
  • Frequent joint dislocations or subluxations: Particularly in shoulders, knees, hips, fingers, and jaw.
  • Chronic joint and muscle pain: Often described as deep, aching, and widespread.
  • Fatigue: Disproportionate to activity levels, often debilitating.
  • Poor proprioception and coordination: Leading to clumsiness, frequent falls, and difficulty with fine motor skills.
  • Delayed motor milestones: Slower to crawl, walk, or achieve other physical milestones.
  • Foot abnormalities: Flat feet (pes planus) or bunions.
  • Scoliosis or kyphosis: Curvature of the spine due to ligamentous laxity.
• Skin:
  • Soft, velvety, and stretchy skin: Can be pulled out significantly and then snaps back.
  • Easy bruising: Often with minimal trauma.
  • Slow or poor wound healing: Leading to wide, atrophic (thin) scars.
  • Molluscoid pseudotumors: Fleshy lesions over pressure points.
• Other Systems:
  • Gastrointestinal issues: Reflux, abdominal pain, constipation, or diarrhea.
  • Autonomic dysfunction (Dysautonomia): Including POTS (dizziness, lightheadedness, rapid heart rate upon standing), fainting, and temperature dysregulation.
  • Dental issues: Crowded teeth, fragile gums, TMJ dysfunction.
  • Eye problems: Myopia, strabismus, fragile sclera.
  • Bladder dysfunction: Urinary urgency or frequency.
  • Neurodevelopmental comorbidities: Higher incidence of anxiety disorders, ADHD, and autism spectrum disorder.

Diagnosis of EDS in Children

Diagnosis of EDS, especially hEDS, is primarily clinical, relying on a thorough physical examination, detailed medical history, and assessment against established diagnostic criteria (e.g., the 2017 International Classification for hEDS). This often involves:

• Physical Examination: Assessing joint hypermobility using tools like the Beighton Score, evaluating skin characteristics, and looking for other systemic signs.
• Medical and Family History: Inquiring about a family history of EDS, hypermobility, chronic pain, or unexplained symptoms.
• Exclusion of Other Conditions: Ruling out other connective tissue disorders or conditions that might present with similar symptoms.
• Genetic Testing: While essential for confirming many types of EDS (e.g., cEDS, vEDS), it is not currently available for hEDS. Genetic counseling is often recommended for families.

Management and Exercise Considerations for Children with EDS

Managing EDS in children requires a multidisciplinary approach, focusing on symptom management, prevention of complications, and optimizing functional abilities. For fitness professionals, understanding the unique biomechanical challenges and implementing appropriate exercise strategies is paramount.

• Multidisciplinary Care: Children with EDS often benefit from a team including pediatricians, geneticists, physical therapists, occupational therapists, pain specialists, cardiologists, and gastroenterologists.
• Role of Exercise: Targeted exercise is one of the most crucial interventions for children with EDS. It aims to improve joint stability, strengthen supporting musculature, enhance proprioception, and manage pain and fatigue.
• Key Exercise Principles:
  • Focus on Stability, Not Flexibility: While children with EDS are often naturally flexible, further stretching can be detrimental. The emphasis should be on strengthening the muscles surrounding joints to provide stability and support.
  • Low-Impact Activities: Activities that minimize stress on joints are preferred. Examples include swimming, cycling (stationary or outdoor on smooth terrain), elliptical training, and walking on soft surfaces.
  • Proprioceptive Training: Exercises that improve body awareness and balance are vital. Examples include balance board exercises, single-leg stands, uneven surface walking, and activities like Tai Chi or Pilates (modified).
  • Core Strength: A strong core (abdominal and back muscles) is fundamental for spinal stability and can reduce strain on peripheral joints.
  • Gradual Progression: Exercise intensity and duration should be increased very slowly and cautiously to avoid overexertion, injury, and post-exertional malaise.
  • Pain Management: Children should be taught to listen to their bodies and stop or modify exercises if pain occurs. Exercise should not push through pain.
  • Avoid Hyperextension: Conscious effort is needed to prevent joints from moving beyond their normal anatomical limits during exercises. Education on proper joint alignment is key.
  • Appropriate Footwear and Support: Supportive shoes, orthotics, or braces (when prescribed by a medical professional) can provide crucial stability.
• Activities to Approach with Caution:
  • High-Impact Sports: Running on hard surfaces, jumping, gymnastics, or sports involving sudden stops and starts can exacerbate joint pain and increase injury risk.
  • Contact Sports: Football, rugby, or wrestling pose a significant risk of dislocation, injury, and internal organ damage.
  • Extreme Stretching or Yoga Poses: While some gentle, controlled movement is beneficial, deep stretches that push joints into hyperextension should be avoided.
  • Activities with Repetitive Joint Stress: Certain weightlifting exercises with poor form, or sports like baseball pitching, can lead to overuse injuries.

Prognosis and Living with EDS in Childhood

EDS is a lifelong condition, and there is no cure. However, with early diagnosis and appropriate management, children with EDS can significantly improve their quality of life and functional abilities. The prognosis varies widely depending on the specific type of EDS and the severity of symptoms.

For children with EDS, the focus is on:

• Empowerment through Education: Teaching children and their families about their condition, how to manage symptoms, and how to protect their joints.
• Symptom Management: Addressing pain, fatigue, and autonomic dysfunction through medication, therapies, and lifestyle adjustments.
• Functional Improvement: Maximizing physical capabilities through targeted exercise and physical therapy.
• Emotional and Psychological Support: Addressing the potential for anxiety, depression, or social challenges associated with chronic illness.

Conclusion

Ehlers-Danlos Syndromes in children represent a complex set of conditions requiring a nuanced understanding and a holistic approach to care. For fitness professionals, recognizing the signs, understanding the biomechanical implications, and implementing safe, effective, and tailored exercise programs are critical to empowering these children to build strength, stability, and confidence, fostering a foundation for lifelong health and well-being despite their unique challenges.