Many doctors worldwide hesitate to diagnose hypermobility spectrum disorders (HSD) or Ehlers-Danlos syndromes (EDS) in children and adolescents, resulting in many undiagnosed and unmanaged cases.
Twelve of the thirteen classified types of EDS have known genetic causes and can be confirmed through genetic testing. The most common type — hypermobile Ehlers-Danlos syndrome (hEDS), which accounts for approximately 90% of EDS cases — and HSD, do not have identified genetic causes.
Diagnosing HSD involves ruling out other conditions, including EDS, and particularly hEDS, if joint hypermobility is causing issues. Diagnosis of hEDS relies on meeting the 2017 hEDS criteria, which were primarily designed for adults.
Pediatric Diagnostic Challenges
Diagnosing HSD or hEDS in very young children is particularly challenging due to the complexities involved in pediatric diagnoses.
Several factors contribute to these complexities:
- People are typically more flexible as children and become less flexible as they get older, regardless of whether they have a hypermobility disorder or not. This can make it difficult to tell the difference between individuals with a normal physical trait and those with an underlying disorder, especially because children often have greater joint flexibility.
- In this age group, symptoms can change quickly. For instance, some very young children may have few symptoms, while others may develop them during adolescence. There are also cases where young children with severe motor difficulties improve with rehabilitation and become more functional as their symptoms resolve.
- Children’s bodies undergo constant growth and changes in skeletal proportions. The 2017 hEDS criteria include features related to skeletal proportions such as finger length and arm span-to-height ratio. However, growth occurs unevenly, with arms and legs growing first during puberty, followed by the trunk. This uneven growth can lead to misinterpretation of longer limbs in young people, complicating the evaluation of their skeleton.
- Certain skin signs, such as scarring, may not be assessable in babies, as they typically lack scars.
- Some features of the 2017 hEDS criteria are exceptionally rare in children, such as vaginal prolapse, which would be highly concerning in very young children.
AHEAD – Action for Children & Young People with EDS & HSD Accurate Diagnosis
The AHEAD Coalition is formed of groups, organizations, and healthcare professionals involved in the welfare of children and young people, and their families, affected by EDS and HSD.
The Coalition was formed following an awareness event held by The Ehlers-Danlos Society which explored child abuse and the misdiagnosis of hypermobility spectrum disorders and Ehlers-Danlos syndromes.
The Ehlers-Danlos Society had been hearing from a growing number of families and individuals sharing their experiences of being diagnosed with a factitious disorder, either imposing ill health on self or, more typically, a parent on a child. We noted that Ehlers-Danlos syndromes were being listed as a condition to be concerned about, in situations where factitious injury or illness (FII) is suspected.
The Coalition brought from their members, communities, and patients a number of concerns relating to infancy, childhood, and younger people, and they determined there was a need to review existing evidence and address gaps.
These included:
- Medical complications of EDS and HSD
- Gaps in clinical and social service support
- The reasoning, cited evidence, and outcomes of clinical, social service, and court decisions in EDS and HSD-related child abuse cases
The Coalition determined that a priority was the review of the diagnostic criteria for children and young people. The Pediatric Working Group of the International Consortium on EDS and HSD, a member of the Coalition, sought to address these challenges. The group, consisting of clinicians and researchers who have treated over 5,000 pediatric patients in the past five years, focused on reviewing the difficulties associated with diagnosing children and adolescents using the 2017 hEDS diagnostic criteria.
As a result, the group has published a new diagnostic framework applicable to individuals aged five and above until biological maturity. Biological maturity is determined by the completion of puberty and bone growth or reaching eighteen years of age, whichever comes first.
The pediatric diagnostic framework allows for children to be classified into categories based on their symptoms. This provides a foundation of addressing each child’s individual needs and ensuring they have care and management to improve quality of life.
Recognizing the spectrum of experiences and symptoms allows for gradual monitoring of children and adolescents, and serves as a stepping stone towards diagnosis.
We appreciate the efforts of the Pediatric Working Group to improve care pathways for children and ensure their needs are met. Validating, investigating, and treating pain and symptoms is crucial, and there are ICD10/11 codes available for managing children’s symptoms. The Ehlers-Danlos Society has formally requested that the ICD committee include ‘hypermobility spectrum disorder’ as a code in its own right.
The current is inadequate and leaves thousands of children without support. Although challenges remain, the new diagnostic framework was developed to help get children the care they need. The diagnosis should not overshadow the importance of treating symptoms, but we acknowledge that it does, and we are committed to research and educational programs to change this reality. Our goal is to improve care pathways, enhance clinical services, and ensure better access to care for this demographic.
The diagnostic framework, ICD-10/11 codes, and resources for clinicians and parents can be found here.
