Lydia Lichtenberger-Geslin

Centre Hospitalier d'Albi

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T. Van Den Abbeele

Assistance Publique – Hôpitaux de Paris

EÉ

Emmanuel Écosse

Université Paris Cité

Juliane Léger

Inserm

Candace Bensignor

Centre Hospitalier Universitaire Dijon Bourgogne

Anya Rothenbühler

Swiss Federal Institute of Sport Magglingen SFISM

Sophie Dos Santos

Assistance Publique – Hôpitaux de Paris

Y. Hassani

Erasmus Hospital

S. Dos Santos

Hôpital Lariboisière

Sylvie Rossignol

Université de Strasbourg

Iva Gueorguieva

Université de Lille

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Assistance Publique – Hôpitaux de Paris

Inserm

Hôpital Robert-Debré

Université Paris Cité

Bicêtre Hospital

Centre Hospitalier Universitaire de Toulouse

Université Paris-Saclay

Physiologie et Physiopathlogie Endocriniennes

Hôpital des Enfants

Université Paris-Sud

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Factors Associated With Hearing Impairment in Patients With Congenital Hypothyroidism Treated Since the Neonatal Period: A National Population-Based Study

The Journal of Clinical Endocrinology & Metabolism (2013)

Lydia Lichtenberger-Geslin Sophie Dos Santos Yasmine Hassani Emmanuel Écosse T. Van Den Abbeele

Context: Untreated hypothyroidism is known to impair hearing, but little is known about the long-term hearing of patients treated for congenital hypothyroidism (CH) since the neonatal period. Objective: The purpose of this study was to assess hearing and its determinants in a population-based registry of young adult patients with CH. Design, Setting, and Participants: Self-declared hearing loss was evaluated in 1202 of the 1748 eligible patients with CH who completed a questionnaire on health status at a median age of 23.4 years. Audiograms were obtained for one third of the patients declaring hearing loss (37 of 107). Main Outcome Measures: Self-declared hearing loss and audiogram characteristics for patients reporting hearing impairment were measured. Results: These patients had a risk of self-declared hearing loss more than 3 times higher than that for the reference population (relative risk [RR] = 3.7; 95% confidence interval [CI], 2.9–4.7). Hearing impairment was diagnosed at a median age of 7.0 (25th–75th percentiles, 3.4–19.0) years, and 17% of affected patients required hearing support in early adulthood. Hearing loss was associated with the type of CH (patients with athyreosis and gland in situ were more frequently affected than those with an ectopic gland [RR = 2.61; 95% CI, 1.77–3.88]), with disease severity, as assessed by bone maturation delay at the time of diagnosis, with at least one knee epiphyseal ossification center absent in the most severe form (RR = 2.29; 95% CI, 1.39–3.79), and with other associated chronic diseases (RR = 3.64; 95% CI, 2.35–5.62). A trend for association with serum free T4 concentration at diagnosis was also observed (RR = 1.47; 95% CI, 0.96–2.23). Hearing loss was mostly bilateral (90%), mild to moderate (96%), of the sensorineural type (76%), and concerned high or very high frequencies. Conclusion: Despite major improvements in prognosis, hearing loss remains a significant problem, particularly in patients with severe CH. Parents and primary care providers should be aware of this risk, because early diagnosis and intervention could improve the long-term prognosis in these patients.

Audiogram

10.1210/jc.2013-1645

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Facteurs associés à la baisse de l’audition chez les patients avec une hypothyroïdie congénitale traitée depuis la période néonatale : étude nationale de population

Annales d Endocrinologie (2013)

Lydia Lichtenberger-Geslin S. Dos Santos Y. Hassani Emmanuel Écosse T. Van Den Abbeele

10.1016/j.ando.2013.07.112

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Young XLH Patients-Reported Experience with a Supportive Care Program

Patient Preference and Adherence (2023)

Anya Rothenbühler Iva Gueorguieva Lydia Lichtenberger-Geslin Christelle Audrain S. Soskin

X-linked hypophosphatemia (XLH) is a rare, chronic, genetic condition characterized by renal phosphate wasting and abnormal bone and teeth mineralization. It represents a challenging and multifaceted disease that causes wide-ranging impacts on patients' lives. In this context, a scientific committee has designed a support initiative for patients treated for XLH: the aXess program. We sought to determine if a patient support program (PSP) could help XLH patients cope with their condition.During the 12 months of participation in the aXess program, XLH patients were contacted by phone by a nurse to coordinate their treatment, ensure treatment adherence, and provide motivational interviews. A Pediatric QOL inventory was conducted on all participants at enrollment (D0), at month 6, and month 12.Altogether, a total of 59 patients were enrolled in the program. Most patients reported an improvement in QOL in all examined dimensions by month 12 (physical, emotional, social, and school, 85.4 ± 0.2 at month 12 versus 75.6 ± 0.3 at enrollment, p<0.05). Patients were very satisfied with the program, with a mean overall satisfaction score of 9.8 ± 0.6 (on a scale from 0 to 10) at month 6 and 9.2 ± 1.5 at month 12.Our findings indicate that this program might improve the QOL for patients with chronic conditions such as XLH through patient education, therapy adherence, motivational interviews, and frequent follow-up. It links the home environment and overall illness management, bringing patients, families, and caregivers together.

10.2147/ppa.s391025

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