From the Research
Diagnosing hypermobile Ehlers-Danlos Syndrome (hEDS) in prepubertal children is challenging but possible, and the 2017 diagnostic criteria can be applied with careful consideration of age-appropriate manifestations. The diagnosis of hEDS in prepubertal children requires a comprehensive evaluation, taking into account the child's symptoms, medical history, and family history. According to the study by 1, hypermobile EDS is inherited in an autosomal dominant pattern, but it does not have a known genetic mutation to help with diagnosis. The 2017 diagnostic criteria for hEDS can be used to guide the diagnosis, but clinicians should be aware of the potential for overlap with other conditions, such as hypermobility spectrum disorder.
Some key features to consider when diagnosing hEDS in prepubertal children include:
- Joint hypermobility, which can be assessed using the Beighton criteria
- Skin hyperextensibility and easy bruising
- Chronic pain and musculoskeletal symptoms
- Family history of hEDS or other connective tissue disorders
- Presence of other systemic symptoms, such as gastrointestinal or autonomic dysfunction
It is essential to note that young children naturally have greater joint hypermobility, making it difficult to distinguish pathological hypermobility from normal developmental flexibility. Therefore, a provisional diagnosis or classification as "hypermobility spectrum disorder" may be more appropriate for very young children, with reevaluation after puberty when symptoms often become more pronounced. Early recognition and intervention can help minimize joint injuries and complications, and improve the child's quality of life, as suggested by 2.
In terms of management, the study by 3 highlights the importance of a multidisciplinary approach, including physical therapy, pain management, and lifestyle modifications. The study by 4 also emphasizes the need for coordinated physical therapy and patient education to improve outcomes. By prioritizing the child's symptoms and functional abilities, clinicians can develop an effective treatment plan that addresses their unique needs and promotes optimal health and well-being.