Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force
Abstract Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is to provide recommendations for the diagnosis and m...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2017-04-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-017-0606-4 |
| _version_ | 1818484002354364416 |
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| author | Berardo Rinaldi Alessandro Vaisfeld Sergio Amarri Chiara Baldo Giuseppe Gobbi Pamela Magini Erto Melli Giovanni Neri Francesca Novara Tommaso Pippucci Romana Rizzi Annarosa Soresina Laura Zampini Orsetta Zuffardi Marco Crimi |
| author_facet | Berardo Rinaldi Alessandro Vaisfeld Sergio Amarri Chiara Baldo Giuseppe Gobbi Pamela Magini Erto Melli Giovanni Neri Francesca Novara Tommaso Pippucci Romana Rizzi Annarosa Soresina Laura Zampini Orsetta Zuffardi Marco Crimi |
| author_sort | Berardo Rinaldi |
| collection | DOAJ |
| description | Abstract Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy. |
| first_indexed | 2024-12-10T15:49:29Z |
| format | Article |
| id | doaj.art-53a9c144620f4daf9ef46f3a65eb4e27 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-10T15:49:29Z |
| publishDate | 2017-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-53a9c144620f4daf9ef46f3a65eb4e272022-12-22T01:42:50ZengBMCOrphanet Journal of Rare Diseases1750-11722017-04-0112111110.1186/s13023-017-0606-4Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task forceBerardo Rinaldi0Alessandro Vaisfeld1Sergio Amarri2Chiara Baldo3Giuseppe Gobbi4Pamela Magini5Erto Melli6Giovanni Neri7Francesca Novara8Tommaso Pippucci9Romana Rizzi10Annarosa Soresina11Laura Zampini12Orsetta Zuffardi13Marco Crimi14Department of Molecular Medicine, University of PaviaInstitute of Genomic Medicine, Catholic University School of MedicinePediatrics Unit, Department of Women’s and Children’s Health, IRCCS Arcispedale Santa Maria NuovaLaboratory of Human Genetics, Galliera HospitalChild Neurology Unit, IRCCS Istituto delle Scienze NeurologicheMedical Genetics Unit, Department of Medical and Surgical Sciences, S. Orsola-Malpighi University HospitalOspedale S. Anna, Ambulatorio Oculistica, AUSL di Reggio EmiliaInstitute of Genomic Medicine, Catholic University School of MedicineDepartment of Molecular Medicine, University of PaviaMedical Genetics Unit, Department of Woman, Child and Urologic Diseases, S. Orsola-Malpighi University HospitalNeurology Unit, Department of Neuro-Motor Diseases, IRCCS Arcispedale Santa Maria NuovaUnit of Pediatric Immunology, Department of Pediatrics, University of Brescia, ASST Spedali Civili di BresciaDepartment of Psychology, University of Milano-BicoccaDepartment of Molecular Medicine, University of PaviaRing14 International, Scientific officeAbstract Background Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum disorder and a number of diverse health issues. Results The aim of this work is to provide recommendations for the diagnosis and management of persons affected by ring chromosome 14 syndrome based on evidence from literature and experience of health professionals from different medical backgrounds who have followed for several years subjects affected by ring chromosome 14 syndrome. The literature search was performed in 2016. Original papers, meta-analyses, reviews, books and guidelines were reviewed and final recommendations were reached by consensus. Conclusion Conventional cytogenetics is the primary tool to identify a ring chromosome. Children with a terminal deletion of chromosome 14q ascertained by molecular karyotyping (CGH/SNP array) should be tested secondarily by conventional cytogenetics for the presence of a ring chromosome. Early diagnosis should be pursued in order to provide medical and social assistance by a multidisciplinary team. Clinical investigations, including neurophysiology for epilepsy, should be performed at the diagnosis and within the follow-up. Following the diagnosis, patients and relatives/caregivers should receive regular care for health and social issues. Epilepsy should be treated from the onset with anticonvulsive therapy. Likewise, feeding difficulties should be treated according to need. Nutritional assessment is recommended for all patients and nutritional support for malnourishment can include gastrostomy feeding in selected cases. Presence of autistic traits should be carefully evaluated. Many patients with ring chromosome 14 syndrome are nonverbal and thus maintaining their ability to communicate is always essential; every effort should be made to preserve their autonomy.http://link.springer.com/article/10.1186/s13023-017-0606-4Ring14 syndromeRecommendationsCaregiversBest practices |
| spellingShingle | Berardo Rinaldi Alessandro Vaisfeld Sergio Amarri Chiara Baldo Giuseppe Gobbi Pamela Magini Erto Melli Giovanni Neri Francesca Novara Tommaso Pippucci Romana Rizzi Annarosa Soresina Laura Zampini Orsetta Zuffardi Marco Crimi Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force Orphanet Journal of Rare Diseases Ring14 syndrome Recommendations Caregivers Best practices |
| title | Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force |
| title_full | Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force |
| title_fullStr | Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force |
| title_full_unstemmed | Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force |
| title_short | Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force |
| title_sort | guideline recommendations for diagnosis and clinical management of ring14 syndrome first report of an ad hoc task force |
| topic | Ring14 syndrome Recommendations Caregivers Best practices |
| url | http://link.springer.com/article/10.1186/s13023-017-0606-4 |
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