Pediatric and Adolescent Considerations in hEDS

See below for Caregiving and Parental Advocacy

In pediatric and adolescent populations, hypermobile Ehlers-Danlos (hEDS) presents unique diagnostic and clinical challenges due to developmental variability, age-dependent symptom expression, and a high burden of comorbidities. Children and adolescents with hEDS often face significant musculoskeletal symptoms, fatigue, neuropsychiatric comorbidities, and functional limitations—often without a clear path to diagnosis or coordinated care. This review synthesizes current evidence and consensus across clinical domains, aiming to inform best practices and guide future research.

Age-Specific Clinical Features

• Generalized Joint Hypermobility (GJH)

  • More prevalent and physiologically normal in children.

  • Beighton score should be adjusted so that children have to obtain a score of 6 or greater for diagnoses vs. 5 or greater for adults due to the greater general flexibility of children.

  • Common symptoms: joint pain, frequent sprains, subluxations, and instability.

• Pain

  • Episodic or chronic pain, especially in knees, back, shoulders.

  • Scoliosis and spinal asymmetry are more frequent in pediatric cases.

  • Chronic pain can arise without joint damage, potentially due to early central sensitization.

• Skin Involvement

  • Usually mild: soft/hyperextensible skin, easy bruising, mild scarring.

  • May become more apparent with age and cumulative trauma.

• Fatigue

  • Common, potentially severe.

  • Major contributor to reduced quality of life and function.

• Autonomic Dysfunction

  • Orthostatic intolerance, dizziness, palpitations, Postural Orthostatic Tachycardia Syndrome (POTS) increasingly recognized in youth. The diagnostic criteria for POTS are different in children and adults, primarily because children and adolescents normally have higher heart rates than adults.

• Gastrointestinal

  • Abdominal pain, constipation (infrequent or difficult bowel movements), reflux (when stomach acid flows backward into the esophagus, causing heartburn), and dysmotility (abnormal movement of the digestive tract muscles, such as in gastroparesis, where the stomach empties too slowly) are common.Symptoms often worsen with age.

Comorbidity Profile in Pediatric hEDS

Diagnostic Considerations in Youth

• Challenges

  • Phenotypes (observable traits or characteristics) evolve with age; diagnostic features may emerge gradually.

  • No molecular marker—clinical diagnosis only.

  • 2017 diagnostic criteria that is currently used may under-identify younger patients.

  • Must exclude alternative diagnoses (e.g., Marfan, Loeys-Dietz, syndromic forms).

• Beighton Score

  • Age-adjusted thresholds critical.

  • Pediatric-specific tools and reevaluation during puberty recommended.

• Role of Genetics

  • Inheritance is autosomal dominant with variable expressivity.

  • Gene unknown—testing rules out other EDS types but doesn’t confirm hEDS.

  • Family history essential for clinical assessment and counseling.

Pathophysiology (how a disease disrupts normal body function) in Youth

• Connective Tissue Dysfunction

  • Abnormal extracellular matrix (ECM) remodeling, myofibroblast activation.

  • Fascia: altered gliding, stiffness, and proprioceptive disruption.

• Pain Mechanisms

  • Generalized hyperalgesia (increased sensitivity to pain throughout the body) and reduced pain inhibition (a decreased ability of the nervous system to suppress pain signals) suggest central sensitization (a condition in which the nervous system becomes hypersensitive, amplifying pain responses even to mild stimuli).Small fiber neuropathy implicated: reduced intraepidermal nerve fibers.

• Autonomic and GI Involvement

  • Likely linked to nerve dysfunction, ECM fragility (weakness in the extracellular matrix—the supportive network of proteins and molecules surrounding cells), and immune dysregulation (an abnormal or imbalanced immune response).

• Immune and Mast Cell Involvement

  • Immune irregularities and MCAS symptoms increasingly recognized in youth.

Prevalence and Diagnostic Trends in Pediatric and Adolescent hEDS

• The estimated prevalence of hypermobile Ehlers-Danlos syndrome (hEDS) in both pediatric and adult populations is approximately 1 in 3,100, based on population-based data from Wales and the United States.

• These figures are likely significant underestimates, especially in children, due to

  • Age-related variability in joint hypermobility.

  • Evolving or incomplete phenotypes (observable characteristics of an individual) in youth.

  • Diagnostic limitations of the current 2017 hEDS criteria.

  • Absence of a molecular or genetic biomarker.

• In practice, formal hEDS diagnosis is often reserved for biologically mature adolescents who meet the full 2017 criteria.

• Younger children with generalized joint hypermobility and symptoms are typically classified under

  • Generalized Joint Hypermobility (GJH)

  • Generalized Hypermobility Spectrum Disorder (G-HSD)

• Many children diagnosed with GJH or G-HSD may later meet criteria for hEDS as they develop additional diagnostic features with age (e.g., chronic pain, skin changes, autonomic symptoms).

• Clinical experience and emerging evidence suggest that hEDS, G-HSD, and GJH exist on a continuum, rather than as entirely separate disorders.

• The 2017 hEDS criteria that are currently in use are often considered too rigid for pediatric populations, prompting calls for pediatric-specific adaptations or more flexible diagnostic models.

• The International Consortium on EDS and HSD has convened a Pediatric Working Group to refine pediatric diagnostic criteria and improve recognition of evolving phenotypes.

• In the future, it is likely that G-HSD and hEDS may be merged or reclassified within a broader, age-adaptive diagnostic spectrum.

Management and Treatment

• Physical Therapy

  • Core intervention to promote joint stability and prevent deconditioning.

  • Focus on proprioception, strength, and safe movement.

• Occupational Therapy

  • Environmental adaptations, school accommodations, assistive devices.

• Pain Management

  • First-line: NSAIDs, acetaminophen.

  • Limited evidence for neuropathic agents (gabapentin, duloxetine).

  • Opioids only for refractory, severe pain.

• Psychological Support

  • Cognitive Behavioral Therapy (CBT), Dialectical Behavior Therapy (DBT), Acceptance and Commitment Therapy (ACT), and psychoeducation are promising.

• Comorbidity-Specific Management

  • Autonomic: hydration, salt, compression, graded exercise.

  • GI: dietary adjustments, motility agents, GI referral.

  • MCAS: antihistamines, avoidance of triggers, mast cell stabilizers.

Preventive and Supportive Strategies

• Early Intervention

  • Prevent secondary disability through early therapy referral.

  • Educate families on joint protection, pacing, symptom monitoring.

• School Accommodations

  • IEP/504 plans (special needs plans), flexible attendance, ergonomic seating.

  • Collaboration with educators critical.

• Self-Management Tools

  • Empower youth and caregivers with symptom tracking and planning tools.

Novel and Emerging Therapies

• Prolotherapy: Injectable treatment to improve joint stability—promising but understudied.

• Monoclonal Biologics: For severe MCAS—limited evidence in youth.

• Hormonal Therapy: Used off-label for gynecologic symptoms in adolescents.

• Digital Health & Apps: Emerging tools for symptom tracking and pain management.

Long-Term Outcomes and Transition to Adult Care

• hEDS tends to follow a chronic, relapsing-remitting course.

• Pain, fatigue, and multisystem symptoms may persist into adulthood.

• Early diagnosis and proactive management improve outcomes.

• Transition programs are vital to prevent care gaps and deterioration.

Health Disparities

• Minoritized and low-income children face

  • Delays in diagnosis

  • Reduced access to specialists

  • Higher care fragmentation

  • Increased risk of poor outcomes

• Provider bias and systemic inequities likely contribute.

Psychosocial Impacts

• School Challenges

  • Frequent absences, missed assignments, and fatigue impair learning.

• Social Impacts

  • Isolation, misunderstanding, and bullying are common.

• Supportive Measures

  • Individualized education plans, social skills interventions, psychological support.

Summary

Pediatric and adolescent hEDS is a complex, systemic condition marked by significant medical and psychosocial burdens. While children often present with joint hypermobility and pain, their full clinical picture evolves over time, frequently revealing a broader array of comorbidities. Early recognition, multidisciplinary care, and proactive support are essential to prevent long-term disability and psychosocial harm. Further research into pediatric-specific diagnostic frameworks, therapeutic approaches, and social supports is urgently needed to improve outcomes for affected youth and their families.

Caregiving and Parental Advocacy in Pediatric hEDS

Caring for a child with hypermobile Ehlers-Danlos syndrome (hEDS) is both complex and deeply personal. Because hEDS affects multiple systems, changes over time, and has no molecular test or cure, parents often take on the roles of case manager, educator, medical historian, and advocate. This article outlines the responsibilities, challenges, and strategies of parental caregiving, highlighting both evidence-based practices and the real-world demands that families face.

The Parent as Medical Coordinator

In the absence of a clear diagnostic or treatment path, parents frequently become the central coordinator of their child’s care. Responsibilities often include:

• Tracking symptoms over time, such as pain episodes, fatigue, dislocations, dizziness, gastrointestinal issues, or sensory sensitivities.

• Communicating with multiple specialists across disciplines (e.g., primary care, physical therapy, gastroenterology, cardiology, psychology).

• Maintaining detailed medical records, including emergency room visits, imaging, specialist letters, and previous evaluations to reduce repetition and fragmentation in care.

• Preparing for appointments by organizing questions and goals in advance, especially when facing limited visit times.

Many parents report that their child’s symptoms were initially dismissed or misattributed to anxiety, growing pains, or attention-seeking behavior. Persistence and detailed documentation often play a key role in getting appropriate referrals and recognition.

Advocacy in Schools and Community Settings

School is often where the most visible consequences of hEDS arise—frequent absences, fatigue, difficulty sitting for long periods, slow writing, or pain during gym class. Parents are typically the primary advocates for ensuring academic access and accommodations. This includes

• Securing 504 Plans or Individualized Education Programs (IEPs) when physical, cognitive, or emotional symptoms interfere with learning or participation.

  • Section 504 of the Rehabilitation Act of 1973 ensures that students with disabilities have equal access to education through reasonable accommodations. It applies when a child’s condition substantially limits one or more major life activities (like walking, concentrating, or attending school).

  • The Individuals with Disabilities Education Act (IDEA) is a federal law that provides special education and related services to eligible children whose disabilities interfere with their ability to learn in a general education setting. It requires a formal evaluation and development of an Individualized Education Program (IEP).

• Coordinating with school nurses, counselors, and teachers to ensure appropriate supports such as rest breaks, modified PE, ergonomic seating, or flexible attendance.

• Educating school staff about hEDS, which is often unfamiliar or misunderstood, especially when the child “looks healthy.”

Parents also navigate extracurricular activities, social opportunities, and transportation with an eye toward inclusion, energy conservation, and injury prevention.

Managing Daily Life at Home

Caregiving involves day-to-day decisions that affect the child’s physical comfort, psychological well-being, and sense of autonomy. At home, this may include

• Adjusting routines to match the child’s energy levels and physical limitations.

• Facilitating home exercises recommended by therapists, often adapting them to fit attention spans or daily rhythms.

• Monitoring hydration, nutrition, and sleep hygiene, particularly for children with comorbid dysautonomia or gastrointestinal symptoms.

• Making environmental modifications, such as using ergonomic chairs, stair aids, or grab bars, to reduce strain and risk of injury.

Parents often report that flexibility, creativity, and close observation are key to balancing activity and recovery in everyday routines.

Supporting Emotional and Social Development

Children with hEDS may face social isolation, anxiety, and frustration related to missed activities or misunderstood symptoms. Parents help mediate these challenges by

• Normalizing the child’s experience and offering age-appropriate explanations of the condition.

• Helping children manage emotions, especially around unpredictability, pain, or feeling “different.”

• Encouraging friendships and social participation, even if modifications are needed (e.g., shorter playdates, seated games, reduced sensory input).

• Seeking peer support—for both the child and the family—through online communities, support groups, or mentorship.

Building a sense of agency and self-understanding can reduce internalized stigma and strengthen resilience over time.

Navigating Medical Uncertainty

The lack of a known genetic cause and the evolving nature of symptoms contribute to diagnostic and prognostic uncertainty. Parents must often manage

• Decisions about labeling and diagnosis, particularly when children are too young to meet full criteria or when symptoms are mild but concerning.

• Balancing hope and realism, especially during setbacks or when new comorbidities emerge.

• Conversations about the future, including potential impact on independence, sports, schooling, or work.

For many caregivers, the emotional toll includes periods of grief, worry, guilt, and fatigue. Validating these experiences and accessing mental health support is an important part of long-term caregiving sustainability.

Preparing for Transition to Adult Care

Starting in early adolescence, parents begin shifting responsibilities to their child in age-appropriate ways. This transition involves:

• Coaching the child to describe their symptoms and needs during appointments.

• Introducing concepts of self-management, such as tracking symptoms, using pacing strategies, and understanding their diagnoses.

• Planning for adult care providers—especially in areas like pain management, reproductive health, and mental health—where continuity can be difficult to secure.

Parents remain essential allies during transition, offering guidance while empowering autonomy.

Systemic Barriers and the Burden of Advocacy

Caregivers frequently encounter fragmented services, uncoordinated records, provider disbelief, and limited resources—especially in under-resourced areas or marginalized communities. Advocacy often means

• Learning legal rights under Section 504 and IDEA to secure accommodations and services in schools.

• Fighting insurance denials for therapies, mobility devices, or specialist referrals.

• Explaining the diagnosis repeatedly, especially when records are incomplete or unfamiliar to new providers.

• Seeking culturally appropriate resources, which are often limited or regionally unavailable.

These responsibilities are time-consuming and emotionally demanding, and many parents describe them as a “second job.”

Supporting the Caregiver

Parents of children with hEDS are at increased risk for burnout, anxiety, and depressive symptoms. Supportive strategies include

• Joining caregiver peer groups, both local and virtual.

• Accessing therapy or counseling, especially when trauma, grief, or marital strain is present.

• Using respite care when available, or creating shared care routines with other adults.

• Practicing flexible expectations, recognizing that perfection is neither necessary nor sustainable.

Evidence supports the use of problem-solving skills training (PSST) and family-centered behavioral health models to improve both parent and child outcomes.

Summary

Caregivers of children with hEDS take on critical roles in medical coordination, education advocacy, emotional support, and long-term planning. These roles are made more difficult by diagnostic uncertainty, systemic gaps, and the invisible nature of many symptoms. Yet with knowledge, tools, and support, parents can become powerful advocates and effective caregivers—helping children build adaptive skills, self-advocacy, and resilience. Healthcare professionals can support these efforts by recognizing the caregiving burden, partnering with families, and providing access to interdisciplinary, developmentally informed care.