title: Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
abstract: 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.
  
  
  
  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.
  
  
  
  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.
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Berardo
authors.initials: B
authors.lastname: Rinaldi
authors.affiliation: Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Vaisfeld
authors.affiliation: Pediatrics Unit, Department of Women's and Children's Health, IRCCS Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Amarri
authors.affiliation: Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Baldo
authors.affiliation: Child Neurology Unit, IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Gobbi
authors.affiliation: Medical Genetics Unit, Department of Medical and Surgical Sciences, S. Orsola-Malpighi University Hospital, Bologna, Italy.
authors.forename: Pamela
authors.initials: P
authors.lastname: Magini
authors.affiliation: Ospedale S. Anna, Ambulatorio Oculistica, AUSL di Reggio Emilia, Reggio Emilia, Italy.
authors.forename: Erto
authors.initials: E
authors.lastname: Melli
authors.affiliation: Institute of Genomic Medicine, Catholic University School of Medicine, Rome, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.affiliation: Medical Genetics Unit, Department of Woman, Child and Urologic Diseases, S. Orsola-Malpighi University Hospital, Bologna, Italy.
authors.forename: Tommaso
authors.initials: T
authors.lastname: Pippucci
authors.affiliation: Neurology Unit, Department of Neuro-Motor Diseases, IRCCS Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.
authors.forename: Romana
authors.initials: R
authors.lastname: Rizzi
authors.affiliation: Unit of Pediatric Immunology, Department of Pediatrics, University of Brescia, ASST Spedali Civili di Brescia, Brescia, Italy.
authors.forename: Annarosa
authors.initials: A
authors.lastname: Soresina
authors.affiliation: Department of Psychology, University of Milano-Bicocca, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Zampini
authors.affiliation: Department of Molecular Medicine, University of Pavia, Pavia, Italy.
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.affiliation: Ring14 International, Scientific office, Via Flavio Gioia, 5-42124, Reggio Emilia, Italy. crimi.marco@ring14.org.
authors.forename: Marco
authors.initials: M
authors.lastname: Crimi
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics; D017028:Caregivers; D025063:Chromosome Disorders / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D003582:Cytogenetics; D006801:Humans; D012303:Ring Chromosomes
keywords: Best practices; Caregivers; Recommendations; Ring14 syndrome