Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs
Introduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W),...
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MDPI AG
2025-01-01
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| author | Mateus Marino Lamari Neuseli Marino Lamari Michael Peres de Medeiros Gerardo Maria de Araújo Filho Adriana Barbosa Santos Matheus Gomes Giacomini Vitor Roberto Pugliesi Marques Eny Maria Goloni-Bertollo Érika Cristina Pavarino |
| author_facet | Mateus Marino Lamari Neuseli Marino Lamari Michael Peres de Medeiros Gerardo Maria de Araújo Filho Adriana Barbosa Santos Matheus Gomes Giacomini Vitor Roberto Pugliesi Marques Eny Maria Goloni-Bertollo Érika Cristina Pavarino |
| author_sort | Mateus Marino Lamari |
| collection | DOAJ |
| description | Introduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W), in a concave shape (C), episodes of dislocations, and subluxations, suggest impacts on body mechanics since childhood, with damage to the conformation of the joints. Objectives: Identify preclinical signs of JH, in addition to Beighton Score (BS), through signs that are easily recognized early by pediatricians and family members to avoid possible joint deformities in the future. Methods: The medical records of 124 children (59.7% girls) between one and nine years old were analyzed. JH was assessed using the BS, a history of luxations/subluxations, and the concave (C), “W”, “splits” (S), and foot (F) on head sitting positions. Results: The concave sitting position was the most common, followed by W, F, and S in decreasing order. A total of 52.4% of the children had BS > 6, with a higher prevalence among girls (60.8%) compared to boys (40.0%); a difference statistically significant (<i>p</i> = 0.024, Fisher’s exact test). Thirty-two patients (27.4%) had luxations/subluxations with the higher scores. Conclusions: Sitting in S, F, W, and C positions are preclinical phenotypic characteristics of JH, easily identified by pediatricians and family members to prevent possible joint deformities. BS ≥ 6 is more frequently observed in all positions. The majority of the total sample has BS > 6, with a significant female gender influence. Among those with a history of occasional joint dislocations and subluxations, half of them have the highest BS scores. |
| format | Article |
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| institution | Kabale University |
| issn | 2227-9067 |
| language | English |
| publishDate | 2025-01-01 |
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| series | Children |
| spelling | doaj-art-6d4d0f5a97f645fc924163adb757efec2025-01-24T13:27:20ZengMDPI AGChildren2227-90672025-01-0112110910.3390/children12010109Phenotypic Presentation of Children with Joint Hypermobility: Preclinical SignsMateus Marino Lamari0Neuseli Marino Lamari1Michael Peres de Medeiros2Gerardo Maria de Araújo Filho3Adriana Barbosa Santos4Matheus Gomes Giacomini5Vitor Roberto Pugliesi Marques6Eny Maria Goloni-Bertollo7Érika Cristina Pavarino8Department of Epidemiology and Public Health, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilDepartment of Neurological Sciences, Psychiatry and Medical Psychology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilDepartment of Neurological Sciences, Psychiatry and Medical Psychology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilDepartment of Neurological Sciences, Psychiatry and Medical Psychology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilDepartment of Computer Science and Statistics, São Paulo State University (UNESP), R. Cristóvão Colombo, 2265, Jardim Nazareth, São José do Rio Preto 15054-000, SP, BrazilFoundation of the Regional Medical School of São José do Rio Preto (FUNFARME), Av. Brigadeiro Faria Lima, 5544, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilEpilepsy Surgery Center (CECEP) of the Hospital de Base de São José do Rio Preto, São José do Rio Preto 15090-000, SP, BrazilGenetics and Molecular Biology Research Unit, Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilGenetics and Molecular Biology Research Unit, Department of Molecular Biology, Medical School of São José do Rio Preto (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto 15090-000, SP, BrazilIntroduction: Joint hypermobility (JH) is mobility beyond the normal range of motion. JH can be an isolated finding or a characteristic of a syndrome. Characteristics related to the sitting position with atypical body positions, such as sitting in splits (S), with the foot on the head (F), in W (W), in a concave shape (C), episodes of dislocations, and subluxations, suggest impacts on body mechanics since childhood, with damage to the conformation of the joints. Objectives: Identify preclinical signs of JH, in addition to Beighton Score (BS), through signs that are easily recognized early by pediatricians and family members to avoid possible joint deformities in the future. Methods: The medical records of 124 children (59.7% girls) between one and nine years old were analyzed. JH was assessed using the BS, a history of luxations/subluxations, and the concave (C), “W”, “splits” (S), and foot (F) on head sitting positions. Results: The concave sitting position was the most common, followed by W, F, and S in decreasing order. A total of 52.4% of the children had BS > 6, with a higher prevalence among girls (60.8%) compared to boys (40.0%); a difference statistically significant (<i>p</i> = 0.024, Fisher’s exact test). Thirty-two patients (27.4%) had luxations/subluxations with the higher scores. Conclusions: Sitting in S, F, W, and C positions are preclinical phenotypic characteristics of JH, easily identified by pediatricians and family members to prevent possible joint deformities. BS ≥ 6 is more frequently observed in all positions. The majority of the total sample has BS > 6, with a significant female gender influence. Among those with a history of occasional joint dislocations and subluxations, half of them have the highest BS scores.https://www.mdpi.com/2227-9067/12/1/109joint instabilityrange of motionjoint mobilityhypermobilitychildpediatrics |
| spellingShingle | Mateus Marino Lamari Neuseli Marino Lamari Michael Peres de Medeiros Gerardo Maria de Araújo Filho Adriana Barbosa Santos Matheus Gomes Giacomini Vitor Roberto Pugliesi Marques Eny Maria Goloni-Bertollo Érika Cristina Pavarino Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs Children joint instability range of motion joint mobility hypermobility child pediatrics |
| title | Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs |
| title_full | Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs |
| title_fullStr | Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs |
| title_full_unstemmed | Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs |
| title_short | Phenotypic Presentation of Children with Joint Hypermobility: Preclinical Signs |
| title_sort | phenotypic presentation of children with joint hypermobility preclinical signs |
| topic | joint instability range of motion joint mobility hypermobility child pediatrics |
| url | https://www.mdpi.com/2227-9067/12/1/109 |
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