Guideline Recommendations for Diagnosis and Clinical Management of Ring14 Syndrome-First Report of an Ad Hoc Task Force
Orphanet Journal of Rare Diseases
Rinaldi, B., Vaisfeld, A., et al. (2017).
Orphanet Journal of Rare Diseases, 12, Article: 69.
This guideline provides recommendations for the diagnosis and management of individuals with ring chromosome 14 syndrome, a rare chromosomal disorder.
Ring14 International (Italy)
"Regular assessment of speech and language function by a trained therapist is recommended" (Grade B; p. 8).
"Children with dysphagia should be referred to a speech therapist" (Grade A; p. 7).
The initial clinical evaluation should include an audiologic evaluation (Grade C).
<div>"Communication support systems (e.g., pointing boards with figures or words) should be used with individuals with severe communicative impairment; individualized training should be guaranteed to affected people and appropriate support provided to their caregivers" (Grade C; p. 8).</div>
"Multidisciplinary care at a major clinical facility should be available for patients and their relatives to reduce medical complications and improve quality of life" (p. 5). General practitioners may consult with various specialists, including speech-language pathologists (Grade C).
Rehabilitation therapists should generally see children affected with ring 14 syndrome every week, if needed (Grade C).
"Further studies to evaluate communication disorders and their treatment in [ring chromosome 14] r(14) syndrome are needed" (Grade B; p. 8).
"Full psychomotor and neuropsychological testing is useful from the first 2 years to detect early communication and language disorders" (Grade A; p. 8).
