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A connective tissue disorder may underlie ESSENCE problems in childhood
Carolina Baeza-Velasco1, Rodney Grahame2, Jaime F Bravo3
1Department of Psychology, Laboratory of Psychopathology and Health Process, University Paris Descartes - Sorbonne Paris Cité, Boulogne-Billancourt, France.
Children with Ehlers-Danlos syndrome hypermobility type (EDS-HT/JHS) often experience neurodevelopmental challenges, known as ESSENCE problems. These issues may be recognized before the underlying connective tissue disorder is diagnosed, highlighting the need for increased awareness.
Area of Science:
- Pediatric Rheumatology
- Neurodevelopmental Pediatrics
- Genetics
Background:
- Ehlers-Danlos syndrome hypermobility type (EDS-HT/JHS) is a common hereditary connective tissue disorder (HDCT) with varied symptoms.
- EDS-HT/JHS involves tissue fragility, joint hypermobility, and numerous other manifestations, often starting in infancy.
- The medical community has limited awareness of EDS-HT/JHS and the associated Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE) problems in children.
Purpose of the Study:
- To review the clinical and empirical evidence linking EDS-HT/JHS in children to ESSENCE difficulties.
- To synthesize current knowledge on the co-occurrence of neurodevelopmental issues and EDS-HT/JHS.
Main Methods:
- A narrative literature review was conducted.
- Searches encompassed scientific online databases and reference lists, including quantitative and qualitative research.
Main Results:
- Evidence suggests an association between EDS-HT/JHS and ESSENCE difficulties.
- These include motor abnormalities, hyperactivity/hypoactivity, inattention, speech/language issues, social interaction challenges, behavioral problems, sleep disturbances, feeding difficulties, and emotional problems.
Conclusions:
- Children with EDS-HT/JHS frequently present with ESSENCE problems, which are often identified before the HDCT diagnosis.
- Clinicians should consider EDS-HT/JHS in children with ESSENCE problems, as it may impact neurodevelopment.
- Recognizing these interconnected issues can improve early diagnosis and treatment of EDS-HT/JHS.
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