1. Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force
- Author
-
Sergio Amarri, Annarosa Soresina, Alessandro Vaisfeld, Giuseppe Gobbi, Giovanni Neri, Chiara Baldo, Tommaso Pippucci, Marco Crimi, Laura Zampini, Francesca Novara, Erto Melli, Pamela Magini, Berardo Rinaldi, Orsetta Zuffardi, Romana Rizzi, Rinaldi, B, Vaisfeld, A, Amarri, S, Baldo, C, Gobbi, G, Magini, P, Melli, E, Neri, G, Novara, F, Pippucci, T, Rizzi, R, Soresina, A, Zampini, L, Zuffardi, O, and Crimi, M
- Subjects
Myoclonus ,Abnormality of skin pigmentation ,Brain atrophy ,Autism Spectrum Disorder ,Ring chromosome ,Chromosome Disorders ,Autoimmunity ,Review ,Recommendations ,030105 genetics & heredity ,Optic neuropathy ,0302 clinical medicine ,Ring Chromosomes ,Pharmacology (medical) ,Pallor ,Feeding difficultie ,Diaphragmatic weakness ,Status epilepticus ,Retinal degeneration ,Abnormality of the immune system ,Dehydration ,Focal seizure ,General Medicine ,Dysphagia ,Recurrent infection ,Abnormality of the eye ,Autism spectrum disorder ,Cafe-au-lait spot ,Diaphragmatic weakne ,Focal seizures with impairment of consciousness or awarene ,Underdeveloped supraorbital ridge ,Feeding difficulties ,Downslanted palpebral fissures ,Arthriti ,Large forehead ,medicine.medical_specialty ,Best practices ,Epicanthus ,Cataract ,Autistic behavior ,Recurrent upper respiratory tract infection ,Ring14 syndrome ,Cytogenetics ,03 medical and health sciences ,Microphthalmia ,Humans ,Scoliosi ,Arthritis ,lcsh:R ,Absent speech ,Aggressive behavior ,Full cheek ,Glaucoma ,Guideline ,Pneumonia ,Recommendation ,medicine.disease ,Strabismus ,Short stature ,Ventriculomegaly ,Osteoporosis ,Stereotypy ,Focal seizures with impairment of consciousness or awareness ,Abnormality of the face ,030217 neurology & neurosurgery ,Recurrent pneumonia ,0301 basic medicine ,Pediatrics ,Autism ,Global developmental delay ,Intellectual disability ,lcsh:Medicine ,Best practice ,Encephalopathy ,Respiratory failure ,Epilepsy ,Blepharophimosi ,Behavioral abnormality ,Myopia ,Full cheeks ,Celiac disease ,Flexion contracture ,Facial asymmetry ,Genetics (clinical) ,Hypertelorism ,Status epilepticu ,Muscular hypotonia ,Seizure ,Anorexia ,Coloboma ,Caregivers ,Ring chromosome 14 syndrome ,Microcephaly ,Respiratory insufficiency ,Fever ,Milia ,Respiratory tract infection ,Underdeveloped supraorbital ridges ,Pain ,Blepharophimosis ,Hearing impairment ,Focal seizures ,Seizures ,Strabismu ,Scoliosis, Recurrent infections ,medicine ,Epicanthu ,Thin vermilion border ,Chromosomes, Human, Pair 14 ,Abnormality of retinal pigmentation ,Growth delay ,Increased body weight ,business.industry ,Osteopenia ,Malnutrition ,Osteoporosi ,Abnormality of the corpus callosum ,Astigmatism ,Caregiver ,Horizontal eyebrow ,Abnormality of vision ,Hyperactivity ,Recurrent upper respiratory tract infections ,Aspiration ,Downslanted palpebral fissure ,Abnormality of the retina ,business ,Constipation ,Myoclonu - 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.
- Published
- 2017