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Ring‐14 Chromosomal Syndrome: A Statistical Analysis and Comparison of Signs and Symptoms
Author(s) -
Ivanoff Athena E.,
Tulp Orien Lee,
Einstein George P.
Publication year - 2020
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.2020.34.s1.07591
Subject(s) - medicine , ring chromosome , pediatrics , signs and symptoms , comprehension , informed consent , audiology , dermatology , surgery , pathology , chromosome , karyotype , alternative medicine , genetics , linguistics , philosophy , gene , biology
The parent(s) and/or guardian(s) of Ring‐14 patients all signed appropriate consent form(s) prior to the study. OBJECTIVE The purpose of this extensive study was to investigate the manifestations and challenges faced by subjects suffering from the rare, genetic condition known as Ring‐14 Chromosomal Syndrome, caused by an abnormal ring formation of chromosome fourteen (14), by comparing signs and symptoms exhibited, including, but not limited to the following: phenotypic similarities; physical appearances and properties; abnormal oral manifestations (such as delayed development and eruption of teeth, excessive swelling of the oral mucosa (periodontitis and gingivitis), and presence of any atypical oral lesions and /or sores), maxillofacial characteristics; specific types of seizures most commonly experienced; onset, duration and frequency of seizures; most common race(s) affected; comprehension capabilities (such as the ability to speak, read, or write, and IQ/intelligence quotient), gender; age, presence of lymphedema; mobility characteristics; and existence and range of decreased muscle tone. The parent(s) and/or guardian(s) of Ring‐14 patients all signed appropriate consent form(s) prior to the study, which was also approved by the Human Subjects Committee of the University. The information gathered and analyzed from this study is intended to raise an awareness of this extremely rare, yet highly complex genetic condition and allow health professionals to gain familiarity with the signs and symptoms exhibited by these patients to encourage genetic testing early on, upon suspicion of it's potential presence; thus, limiting the occurrence of a late, or misdiagnosis. In addition to educating health professionals and those in training to appropriately examine these patients, as many of them are prone to seizures, behavioral outbursts, and are unable to speak; and finally, to challenge the current belief that this syndrome is limited to pediatric patients, by documenting and introducing current statistics of those affected by Ring‐14 Syndrome, as several cases remain diagnosed, yet undocumented in the current medical literature. Support or Funding Information Support provided by the University of Science Arts and Technology, Montserrat, British West Indies.