Baeza-Velasco Carolina, Grahame Rodney, Bravo Jaime F
Department of Psychology, Laboratory of Psychopathology and Health Process, University Paris Descartes - Sorbonne Paris Cité, Boulogne-Billancourt, France.
Division of Medicine, University College London, London, UK.
Res Dev Disabil. 2017 Jan;60:232-242. doi: 10.1016/j.ridd.2016.10.011. Epub 2016 Oct 29.
Ehlers-Danlos syndrome hypermobility type, also known as Joint Hypermobility Syndrome (EDS-HT/JHS), is the most common hereditary disorder of the connective tissue (HDCT). It is characterized by tissue fragility, joint hypermobility and a wide range of articular and non-articular manifestations, which often appear in infancy. The clinical picture of EDS-HT/JHS is poorly known by the medical community, as is the presence of "ESSENCE" (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) problems in affected children.
The present work reviews the clinical and empirical evidence for ESSENCE difficulties in children with EDS-HT/JHS.
A narrative review of the literature was undertaken following a comprehensive search of scientific online databases and reference lists. This included publications of quantitative and qualitative research.
Motor abnormality, hyperactivity/hypoactivity, inattention, speech/language, social interaction, behavioral, sleep, feeding and emotional problems are ESSENCE difficulties for which there is some evidence of an association with EDS-HT/JHS.
Children with EDS-HT/JHS present ESSENCE problems that often coexist and tend to be recognized before the HDCT. Clinicians encountering children with ESSENCE problems should consider the possibility of an underlying HDCT such as EDS-HT/JHS, probably influencing neurodevelopmental attributes in a subgroup of children. Awareness of these interconnected clinical problems might help improve early referral, diagnosis and treatment of EDS-HT/JHS.
埃勒斯-当洛综合征高活动型，也称为关节过度活动综合征（EDS-HT/JHS），是最常见的遗传性结缔组织疾病（HDCT）。其特征为组织脆弱、关节过度活动以及广泛的关节和非关节表现，这些表现常在婴儿期出现。医学界对EDS-HT/JHS的临床表现了解甚少，受影响儿童中存在的“本质”（引发神经发育临床检查的早期症状综合征）问题也是如此。
本研究综述了EDS-HT/JHS患儿存在“本质”问题的临床和实证证据。
在全面检索科学在线数据库和参考文献列表后，对文献进行了叙述性综述。这包括定量和定性研究的出版物。
运动异常、多动/少动、注意力不集中、言语/语言、社交互动、行为、睡眠、喂养和情绪问题是“本质”问题，有一些证据表明它们与EDS-HT/JHS有关联。
EDS-HT/JHS患儿存在“本质”问题，这些问题往往并存，且往往在HDCT之前就被发现。遇到有“本质”问题患儿的临床医生应考虑潜在的HDCT，如EDS-HT/JHS的可能性，这可能在一部分儿童中影响神经发育特征。认识到这些相互关联的临床问题可能有助于改善EDS-HT/JHS的早期转诊、诊断和治疗。
