Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force

摘要: Ring chromosome 14 syndrome is a rare chromosomal disorder characterized by early onset refractory epilepsy, intellectual disability, autism spectrum and number of diverse health issues. The aim this work to provide recommendations for the diagnosis management persons affected ring based on evidence from literature experience professionals different medical backgrounds who have followed several years subjects syndrome. search was performed in 2016. Original papers, meta-analyses, reviews, books guidelines were reviewed final reached consensus. Conventional cytogenetics primary tool identify chromosome. Children with terminal deletion 14q ascertained molecular karyotyping (CGH/SNP array) should be tested secondarily conventional presence Early pursued order social assistance multidisciplinary team. Clinical investigations, including neurophysiology at within follow-up. Following diagnosis, patients relatives/caregivers receive regular care Epilepsy treated anticonvulsive therapy. Likewise, feeding difficulties according need. Nutritional assessment recommended all nutritional support malnourishment can include gastrostomy selected cases. Presence autistic traits carefully evaluated. Many are nonverbal thus maintaining their ability communicate always essential; every effort made preserve autonomy.