Otorhinolaryngological, Audiovestibular and swallowing manifestations of patients with Niemann-Pick disease Type C
adolescent; hearing; dysphagia; priority journal; school child; preschool child; prospective study; human; article; child; female; male; controlled study; clinical article; auditory response; Balance disorders; body equilibrium; endoscopy; Flexible endoscopy; hearing impairment; Hearing problems; Niemann Pick disease/di [Diagnosis]; Niemann-Pick disease; otorhinolaryngology; pure tone audiometry; stabilography; swallowing; Swallowing disorders; vestibular system; feeding difficulties; tone and motor problems; NPC; penetration; aspiration scale; trajectory; characteristics; postural imbalance; dysphagia
Objectives: The aim of this study is to evaluate audiovestibular and swallowing impairment of patients with NPC. Methods: Audiovestibular and swallowing evaluation were performed on patients with Niemann-Pick disease type C (NPC) at Hacettepe University between 20013 and 2015 prospectively. Pure-tone audiometry (PTA), Auditory Brain stem response (ABR), Flexible endoscopic evaluation of swallowing (FEES) test and posturography were done. Hearing, swallowing and balance states were measured. Results: There were 16 patients (5 male and 11 female, with a median age of 6.5 years old). The most common ABR abnormalities observed were absent waves I and III (%70 absent I waves, %43.75 absent III waves). Twelve of sixteen patients (%75) had an ABR abnormality in at least one ear, of these, four patients had normal hearing and three of them had periferal hearing loss. 12 (75%) patients had complaint of postural imbalance. 11(69%) of patients had peripheral and one (6%) patient had central impairment. Nine of sixteen patients (56.25%) show some degree of dysphagia (either penetration or aspiration). Two patients (12.5%) showed aspiration both liquid and viscous nutrition. Three patients (18.75%) showed aspiration primarily in liquids and two of them had penetration with viscous nutrition. Three patients (18.75%) had penetration with no aspiration neither liquid nor viscous nutrition (PEN-ASP score was 3, 3, 5, respectively). Conclusion: There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset form of disease.
Senirli R T; Kuscu O; Akyol U; Topcu M; Yigit O; Aksoy S; Demir N
International Journal of Pediatric Otorhinolaryngology
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.ijporl.2015.11.009" target="_blank" rel="noreferrer noopener">10.1016/j.ijporl.2015.11.009</a>
Use of electronic media in a pediatric palliative aquatics program: Legacy, teaching, research and caveats
awareness; brother; California; child; conference abstract; documentation; face; female; grief; hearing; heat; hot water; human; literature; male; memory; motion; palliative therapy; pediatrics; photography; physician; sound; teacher; teaching; touch; videorecording; voice
Program Goals: Appropriate use of electronic media in a pediatric palliative care setting enhances a family's experience of care given to their child over time and assists in the grieving process. Here we explore multiple uses of electronic media in a pediatric palliative aquatics program operating within a pediatric palliative care facility in California. Evaluation: Electronic media has changed many facets of daily life, including providing palliative care to medically fragile children. Its use provides families with an "electronic biography" of their child and offers siblings a connection to a brother or sister who might have died before their birth. Oral histories are further supported with video data, thereby providing families with an enduring legacy. Loved ones unable to be present at events in "real time" can enjoy the electronic version of the child's experience. The legacy created in this manner exists beyond the grief of the present moment, extending into a time when painful memories become muted, allowing families to remember joyful events in the child's life. Families can photograph and video the child's responses to aquatic sessions, documenting movements and abilities virtually impossible for the child on land. Information can be shared with pediatric care practitioners using electronic media, providing them with detailed documentation of the patient's responses and enhanced abilities during warm water sessions. Consent is always obtained prior to facility use. As always, precautions against inappropriate use of electronic media during aquatics sessions must be assured. Public use of specific photos and film are sensitively screened for appropriateness. In researching program outcomes, the child ultimately becomes both subject and teacher during palliative aquatic sessions. Individual patient responses to sessions can be documented over time, allowing researchers opportunities to observe in slow motion subtle reactions of the patient to movement and touch. The aquatic practitioner-trainees' sense of touch, sight and hearing becomes more acute as s/he observes a child's facial and body reactions to movement, warmth, water pressure and sound. In our ongoing work of training new practitioners, appropriate use of electronic media and careful documentation of sessions has become one of our most valuable teaching tools.
Pyatt S; Fisher J M
Pediatrics
2018
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).