Care Issues in Patients with Rett Syndrome: A Parental Perspective
Abstract
:1. Introduction
1.1. Background
1.2. Methods
1.2.1. Survey Instrument
1.2.2. Data Analysis and Statistics
2. Results
3. Discussion
4. Limitations of the Study
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Appendix A
Child’s initials | |
Current age/ Date of birth | |
Age at diagnosis | |
Genetics | MECP2 yes no If no, specify the mutation |
Referral center | |
Therapy |
Professional Figures | Yes/No | If Yes, How Often | |
---|---|---|---|
Neurologist/neuropsychiatrist | yes no | Regularly | Occasionally |
Family pediatrician/General practitioners | yes no | Regularly | Occasionally |
Physiatrist | yes no | Regularly | Occasionally |
Respiratory physiotherapist | yes no | Regularly | Occasionally |
Pulmonologist | yes no | Regularly | Occasionally |
Orthopedist | yes no | Regularly | Occasionally |
Nutritionist | yes no | Regularly | Occasionally |
Gastroenterologist | yes no | Regularly | Occasionally |
Swallow specialist | yes no | Regularly | Occasionally |
Other: (specify) | yes no | Regularly | Occasionally |
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Patients | Range | |
---|---|---|
Gender (n; %) | ||
Male | 0 (0.0%) | |
Female | 52 (100.0%) | |
Age at the time of the survey(years; median IQR) * | 15 (7–22) | 2–44 |
Age at diagnosis (years, median IQR) | 2 (1.5–3.8) | 1–13 |
Classic Rett syndrome (n/N; %) | 43/52 (82.7%) | |
Congenital variant (n/N; %) | 6/52 (11.5%) | |
Preserved language variant (n/N; %) | 3/52 (5.8%) |
Specialist | Occasionally (n/N; %) | Regularly (n/N; %) | On Demand (n/N; %) | TOTAL (n/N; %) |
---|---|---|---|---|
Neurologist/ neuropsychiatrist | 9/48 (18.7%) | 28/48 (58.3%) | 10/48 (20.8%) | 48/52 (92.3%) |
Family pediatrician/ General practitioners | 4/51 (7.8%) | 11/51 (21.5%) | 31/51 (60.7%) | 51/52 (98.0%) |
Physiatrist | 12/37 (32.4%) | 16/37 (43.2%) | 9/37 (24.3%) | 37/52 (71.1%) |
Respiratory physiotherapist | 1/6 (16.6%) | 4/6 (66.6%) | 1/6 (16.6%) | 6/52 (11.5%) |
Pulmonologist | 1/8 (12.5%) | 3/8 (37.5%) | 4/8 (50.0%) | 8/52 (15.3%) |
Orthopedist | 2/13 (15.3%) | 3/13 (23.0%) | 8/13 (61.5%) | 13/52 (25.0%) |
Nutritionist | 2/15 (13.3%) | 4/15 (26.6%) | 9/15 (60.0%) | 15/52 (28.8%) |
Gastroenterologist | 3/17 (17.6%) | 5/17 (29.4%) | 9/17 (52.9%) | 17/52 (32.6%) |
Swallow specialist | 3/10 (30.0%) | 1/10 (10.0%) | 6/10 (60.0%) | 10/52 (19.2%) |
Speech therapist | 0/2 (0.0%) | 2/2 (100.0%) | 0/2 (0.0%) | 2/52 (3.8%) |
Symptoms | Classic Form (n/N; %) | Congenital Variant (n/N; %) | Preserved Language Variant (n/N; %) | Total (n/N; %) |
---|---|---|---|---|
Autonomous walking | 10/43 (23.2%) | 1/6 (16.6%) | 0/3 (0.0%) | 11/52 (21.1%) |
Walking with aids | 22/43 (51.1%) | 2/6 (33.3%) | 3/3 (100.0%) | 28/52 (53.8%) |
Non-ambulatory status | 10/43 (23.2%) | 3/52 (5.7%) | 0/3 (0.0%) | 13/52 (25.0%) |
Epilepsy | 14/43 (32.5%) | 3/6 (50.0%) | 1/3 (33.3%) | 30/52 (57.6%) |
Apneas | 34/43 (79.0%) | 5/6 (83.3%) | 3/3 (100.0%) | 42/52 (80.7%) |
Polypneas | 10/43 (23.2%) | 1/6 (16.6%) | 1/3 (33.3%) | 12/52 (23.0%) |
Gastrointestinal issues | 27/43 (62.7%) | 4/6 (66.6%) | 2/3 (66.6%) | 33/52 (63.5%) |
Dysphagia | 15/43 (34.8%) | 3/6 (50.0%) | 2/3 (66.6%) | 20/52 (38.4%) |
Scoliosis | 34/43 (79.0%) | 4/6 (66.6%) | 3/3 (100.0%) | 41/52 (78.8%) |
Tracheostomy | 0/43 (0.0%) | 1/6 (16.6%) | 0/3 (0.0%) | 1/52 (1.9%) |
Percutaneous endoscopic gastrostomy (PEG) | 0/43 (0.0%) | 1/6 (16.6%) | 0/3 (0.0%) | 1/52 (1.9%) |
Invasive mechanical ventilation | 0/43 (0.0%) | 1/6 (16.6%) | 0/3 (0.0%) | 1/52 (1.9%) |
Intensive care unit admissions | 7/43(16.2% | 1/6 (16.6%) | 0/3 (0.0%) | 8/52 (15.3%) |
Immunizations | 9/43 (20.9%) | 3/6 (50.0%) | 0/3 (0.0%) | 23/52 (44.2%) |
Influenza vaccination | 10/43 (23.2%) | 1/6 (16.6%) | 2/3 (66.6%) | 13/52 (25.0%) |
Chest physio- therapy | 4/43 (9.3%) | 2/6 (33.3%) | 0/3 (0.0%) | 6/52 (11.5%) |
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Cherchi, C.; Chiappini, E.; Chiarini Testa, M.B.; Banfi, P.; Veneselli, E.; Cutrera, R. Care Issues in Patients with Rett Syndrome: A Parental Perspective. Children 2023, 10, 1713. https://doi.org/10.3390/children10101713
Cherchi C, Chiappini E, Chiarini Testa MB, Banfi P, Veneselli E, Cutrera R. Care Issues in Patients with Rett Syndrome: A Parental Perspective. Children. 2023; 10(10):1713. https://doi.org/10.3390/children10101713
Chicago/Turabian StyleCherchi, Claudio, Elena Chiappini, Maria Beatrice Chiarini Testa, Paolo Banfi, Edvige Veneselli, and Renato Cutrera. 2023. "Care Issues in Patients with Rett Syndrome: A Parental Perspective" Children 10, no. 10: 1713. https://doi.org/10.3390/children10101713