Pulmonary |
Muenzer J, et al. |
Forced Expiratory Volume in the first |
Baseline and 53 weeks |
Prospective |
|
function |
|
Molecular Genetics and
|
|
second (FEV1), Forced vital |
|
posttreatment |
|
|
|
|
|
Metabolism.
|
|
capacity (FVC) |
|
|
|
|
|
|
|
2007;90:329-33717
|
|
|
|
|
|
|
|
|
Muenzer J, et al. Genetics
|
FVC
|
Baseline and 18, 36, and 53 weeks |
Prospective |
|
|
|
in Medicine August.
|
|
|
|
posttreatment |
|
|
|
|
|
2006;8(8)18
|
|
|
|
|
|
|
|
|
Sohn, et al. Orphanet
|
FVC
|
Baseline and 12 and 24 weeks |
Prospective |
|
|
|
Journal of Rare
|
|
|
|
posttreatment |
|
|
|
|
|
Diseases. 2013;8:4219
|
|
|
|
|
|
|
|
|
da Silva EMK, et al. |
FEV1, FVC
|
Baseline and 18, 36 and 53 weeks |
Retrospective |
|
|
|
Cochrane Database Syst
|
|
|
|
posttreatment |
|
|
|
|
|
Rev. 201120
|
|
|
|
|
|
|
|
|
Glamuzina E, et al. J.
|
FVC
|
Baseline and yearly thereafter |
Retrospective |
|
|
|
Inher. Metab. Dis. |
|
|
|
|
|
|
|
|
|
2011;34(3):749-75421
|
|
|
|
|
|
|
|
|
Wooten W, et al. The
|
FEV1, FVC; Total lung capacity
|
1 measurement time point
|
Prospective |
|
|
|
Journal of Paediatrics. |
|
(TLC), Ratio of residual volume to |
|
|
|
|
|
|
|
162(6):1210-12158
|
|
TLC (RV/TLC) |
|
|
|
|
|
|
NCT02663024 |
FVC
|
Baseline and 25 weeks |
Prospective |
|
|
|
|
|
|
|
posttreatment |
|
|
|
|
NCT03292887
|
FEV1, FVC, TLC
|
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Dyspnoea |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Chronic Cough |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Bronchitis |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Pneumonia |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Prevalence of |
NCT03292887
|
Occurrence of hospitalization due to |
At time of entry into HOS database. |
Prospective |
|
pulmonary- |
|
|
|
pulmonary symptoms |
|
No set points for data collection |
|
|
|
related |
|
|
|
|
|
thereafter |
|
|
|
hospitalizations |
|
|
|
|
|
|
|
|
Blood Gas |
Muenzer J, et al. |
O2 desaturation events
|
Baseline and 53 weeks |
Prospective |
|
|
|
Molecular Genetics and
|
|
|
|
posttreatment |
|
|
|
|
|
Metabolism. |
|
|
|
|
|
|
|
|
|
2007;90:329-33717
|
|
|
|
|
|
|
|
|
Wooten W, et al. The
|
Minimum SpO2, mean sleep SpO2, |
1 measurement time point
|
Prospective |
|
|
|
Journal of Paediatrics. |
|
Oxygen desaturation index, |
|
|
|
|
|
|
|
162(6):1210-1215 |
|
ETCO2
|
|
|
|
|
|
|
NCT03292887
|
Respiratory rate, SpO2
|
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Need for oxygen |
NCT03292887
|
Diagnosed Y/N |
At time of entry into HOS database. |
Prospective and |
|
therapy |
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Sleep apnoea |
Muenzer J, et al. |
Apnoea-hypopnoea index (AHI)ef
|
Baseline and 53 weeks |
Prospective |
|
|
|
Molecular Genetics and
|
|
|
|
posttreatment |
|
|
|
|
|
Metabolism.
|
|
|
|
|
|
|
|
|
|
2007;90:329-337 |
|
|
|
|
|
|
|
|
da Silva EMK, et al. |
Overnight AHI
|
Not reported |
Retrospective |
|
|
|
Cochrane Database Syst
|
|
|
|
|
|
|
|
|
|
Rev. 2011 |
|
|
|
|
|
|
|
|
Wooten W, et al. The
|
AHIef
|
1 measurement time point
|
Prospective |
|
|
|
Journal Of Paediatrics. |
|
|
|
|
|
|
|
|
|
162(6):1210-1215 |
|
|
|
|
|
|
|
|
NCT03292887
|
Diagnosed Y/N |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Exercise tolerance |
Muenzer J, et al. |
6-minute walk test (6MWT) |
Baseline and 53 weeks |
Prospective |
|
|
|
Molecular Genetics and
|
|
|
|
posttreatment |
|
|
|
|
|
Metabolism.
|
|
|
|
|
|
|
|
|
|
2007;90:329-337 |
|
|
|
|
|
|
|
|
Muenzer J, et al. Genetics
|
6MWT |
Baseline and 18, 36 and 53 weeks |
Prospective |
|
|
|
in Medicine. 2006;8(8) |
|
|
|
posttreatment |
|
|
|
|
Sohn, et al. Orphanet
|
6MWT |
Baseline and I2 and 24 weeks |
Prospective |
|
|
|
Journal of Rare
|
|
|
|
posttreatment |
|
|
|
|
|
Diseases. 2013;8:42 |
|
|
|
|
|
|
|
|
da Silva EMK, et al. |
6MWT |
Baseline and I8, 36 and 53 weeks |
Retrospective |
|
|
|
Cochrane Database Syst
|
|
|
|
posttreatment |
|
|
|
|
|
Rev. 2011 |
|
|
|
|
|
|
|
|
Glamuzina E, et al. J.
|
6MWT |
Baseline and yearly thereafter |
Retrospective |
|
|
|
Inher. Metab. Dis. |
|
|
|
|
|
|
|
|
|
2011;34(3):749-754 |
|
|
|
|
|
|
|
|
NCT02663024 |
6MWT |
Baseline and 25 weeks |
Prospective |
|
|
|
|
|
|
|
posttreatment |
|
|
|
|
NCT02455622 |
6MWT |
Baseline to minimum 5 years post |
Prospective |
|
|
|
|
|
|
|
enrolment |
|
|
|
|
NCT03292887
|
6MWT |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
|
|
NCT02044692 |
6MWT |
Baseline and every 6 months up to 5 |
Prospective |
|
|
|
|
|
|
|
years |
|
|
Hearing |
da Silva EMK, et al. |
Audiologic assessment, details not |
Not reported |
Retrospective |
|
|
|
Cochrane Database Syst
|
|
provided |
|
|
|
|
|
|
|
Rev. 2011 |
|
|
|
|
|
|
|
|
Vellodi A, et al. J. Inher.
|
Griffiths Mental Development Scales |
Pre (2 weeks to several months |
Prospective |
|
|
|
Metab. Dis.
|
|
(GMDS) |
|
prior) and posttransplant (6-12 |
|
|
|
|
|
1999;22:638-64822
|
|
|
|
months) |
|
|
|
|
Keilmann A, et al. J Inherit
|
Database review- Hunter Outcome |
From registration to the last follow- |
Retrospective |
|
|
|
Metab Dis. |
|
Survey (HOS): |
|
up |
|
|
|
|
|
2012;35:343-35311
|
|
1. PTA air conduction thresholds |
|
|
|
|
|
|
|
|
|
at 250, 500, I000, 2000, 4000, |
|
|
|
|
|
|
|
|
|
8000 Hz |
|
|
|
|
|
|
|
|
|
2. PTAs bone conduction 250, |
|
|
|
|
|
|
|
|
|
500, 1000, 2000, 4000 and 8000 |
|
|
|
|
|
|
|
|
|
Hz |
|
|
|
|
|
|
|
|
|
3. Auditory brainstem response |
|
|
|
|
|
|
|
|
|
(ABR)
|
|
|
|
|
|
|
Cho Y, et al. Audiol
|
|
Click-evoked ABR, Pure tone |
1 measurement time point
|
Prospective |
|
|
|
Neurotol. 2008;I3:206- |
|
audiogram (PTA) |
|
|
|
|
|
|
|
2I223
|
|
|
|
|
|
|
|
|
NCT03292887
|
|
Word recognition test, Bone |
From registration to the last follow- |
Prospective |
|
|
|
|
|
conductionα
|
|
up |
|
|
QOL |
da Silva EMK, et al. |
Not reported |
Not reported |
Retrospective |
|
|
|
Cochrane Database Syst
|
|
|
|
|
|
|
|
|
|
Rev. 2011 |
|
|
|
|
|
|
|
|
Raluy-Callado, et al. |
|
1. The Hunter Syndrome- |
At the time of enrolment to a |
Retrospective |
|
|
|
Orphanet Journal of
|
|
Functional Outcomes for |
|
clinical trial |
|
|
|
|
|
Rare Diseases.
|
|
Clinical |
|
|
|
|
|
|
|
2013;8:10124
|
|
2. Understanding Scale (HS- |
|
|
|
|
|
|
|
|
|
FOCUS) |
|
|
|
|
|
|
|
|
|
3. The Childhood Health |
|
|
|
|
|
|
|
|
|
Assessment Questionnaire |
|
|
|
|
|
|
|
|
|
(CHAQ) |
|
|
|
|
|
|
|
|
|
4. The Child Health Questionnaire |
|
|
|
|
|
|
|
|
|
(CHQ) |
|
|
|
|
|
|
|
|
|
5. The Health Utilities Index (HUI) |
|
|
|
|
|
|
NCT02455622 |
HS-FOCUS |
Baseline to minimum 5 years post |
Prospective |
|
|
|
|
|
|
|
enrolment |
|
|
|
|
NCT03292887
|
Hunter Syndrome on Health-related |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
Quality of Life HS-FOCUS |
|
No set points for data collection |
|
retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Intelligence |
Vellodi A, et al. J. Inher.
|
The Wechsler Intelligence Scale for |
Pre (2 weeks to several months |
Prospective |
|
|
|
Metab. Dis.
|
|
Children, Third Edition UK (W |
|
prior) and posttransplant (6-12 |
|
|
|
|
|
1999;22:638-648 |
|
PPSI-R) |
|
months) |
|
|
|
|
Cho Y, et al. Audiol
|
Korean Educational Development |
1 measurement time pointα
|
Prospective |
|
|
|
Neurotol 2008;13:206- |
|
Institute-Wechsler Intelligence Scale |
|
|
|
|
|
|
|
212 |
|
or Developmental Test of |
|
|
|
|
|
|
|
|
|
Visuomotor |
|
|
|
|
|
|
|
|
|
Integration and the Picture |
|
|
|
|
|
|
|
|
|
Vocabulary Test or Social |
|
|
|
|
|
|
|
|
|
Maturation Test |
|
|
|
|
|
|
NCT01870375 |
Depending on age: |
1 measurement time point
|
Prospective |
|
|
|
|
|
1. Mullen Scales of Early Learning |
|
|
|
|
|
|
|
|
|
2. Wechsler Preschool and |
|
|
|
|
|
|
|
|
|
Primary Scale of Intelligence III |
|
|
|
|
|
|
|
|
|
3. Wechsler Abbreviated Scale of |
|
|
|
|
|
|
|
|
|
Intelligence |
|
|
|
|
|
|
|
|
|
4. Wechsler Intelligence Scale for |
|
|
|
|
|
|
|
|
|
Children IV (controls) |
|
|
|
|
|
|
|
|
|
5. Wechsler Adult Intelligence |
|
|
|
|
|
|
|
|
|
Scale III (controls) |
|
|
|
|
Psycho-social |
Vellodi A, et al. J. Inher.
|
GMDS1
|
Pre- (2 weeks to several months |
Prospective |
|
development |
|
Metab. Dis.
|
|
|
|
prior) and posttransplant (6-12 |
|
|
|
|
|
1999;22:638-648 |
|
|
|
months) |
|
|
Need for surgical |
VellodiI A, et al. J. Inher.
|
Ventilation tubes insertion |
Any time after treatment |
Prospective |
|
intervention to |
|
Metab. Dis.
|
|
|
|
|
|
|
|
ears |
|
1999;22:638-648 |
|
|
|
|
|
|
|
|
Keilmann A, et al. J Inherit
|
Database review—Hunter Outcome |
From registration to the last follow |
Retrospective |
|
|
|
Metab Dis. |
|
Survey: Ventilation tubes insertion |
|
up |
|
|
|
|
|
2012;35:343-353 |
|
|
|
|
|
|
|
|
Cho Y, et al. Audiol
|
Ventilation tubes insertion |
1 measurement time point
|
Prospective |
|
|
|
Neurotol 2008;13:206- |
|
|
|
|
|
|
|
|
|
212 |
|
|
|
|
|
|
|
|
NCT03292887
|
Ventilation tubes insertion |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Chronic nasal |
Malik V, et al. Int J Pediatr
|
Instrument not reported/retrospective |
Any time during disease |
Retrospective |
|
discharge |
|
Otorhinolaryngol. |
|
case note review |
|
|
|
|
|
|
|
2013;77(7):1204-1208 |
|
|
|
|
|
|
Airway |
Malik V, et al. Int J Pediatr
|
Instrument not reported/retrospective |
Any time during disease |
Retrospective |
|
obstruction |
|
Otorhinolaryngol. |
|
case note review |
|
|
|
|
|
|
|
2013;77(7):1204-1208 |
|
|
|
|
|
|
Voice quality |
Malik V, et al. Int J Pediatr
|
Instrument not reported / |
Any time during disease |
Retrospective |
|
|
|
Otorhinolaryngol.
|
|
retrospective case note review |
|
|
|
|
|
|
|
20I3;77(7):I204-I208 |
|
|
|
|
|
|
Complication of |
Malik V, et al. Int J Pediatr
|
Instrument not reported /retrospective |
Any time after treatment |
Retrospective |
|
surgical |
|
Otorhinolaryngol.
|
|
case note review |
|
|
|
|
|
treatment |
|
2013;77(7):1204-1208 |
|
|
|
|
|
|
|
|
Jeong H, et al. Int J Pediatr
|
Review in clinic: complication present/ |
Up to 12 months following the |
Retrospective |
|
|
|
Otorhinolaryngol. |
|
absent |
|
procedure |
|
|
|
|
|
2006;70(10):1765- |
|
|
|
|
|
|
|
|
|
176925
|
|
|
|
|
|
|
Need for |
Malik V, et al. Int J Pediatr
|
Use of CPAP (prior to insertion of |
Any time during disease |
Retrospective |
|
noninvasive |
|
Otorhinolaryngol. |
|
tracheostomy tube) |
|
|
|
|
|
ventilatory |
|
2013;77(7):1204-1208 |
|
|
|
|
|
|
|
support |
Wooten W, et al. The
|
Use of CPAP |
Any time during disease |
Prospective |
|
|
|
journal of pediatrics.
|
|
|
|
|
|
|
|
|
|
162(6):1210-1215 |
|
|
|
|
|
|
|
|
Muenzer j, et al; |
Use of CPAP |
At baseline |
Prospective |
|
|
|
Molecular Genetics and
|
|
|
|
|
|
|
|
|
|
Metabolism.
|
|
|
|
|
|
|
|
|
|
2007;90:329-337I7
|
|
|
|
|
|
|
|
|
NCT03292887
|
Use of CPAP, BIPAP |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Enlarged tonsils |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
thereafter |
|
|
Tosillectomy |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Enlarged Adenoids |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Adenoidectomy |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
|
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
|
|
Swallowing |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
|
difficulties |
|
|
|
|
|
No set points for data collection |
|
Retrospective |
|
|
|
|
|
|
|
thereafter |
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|
Tracheotomy |
NCT03292887
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Present/absent |
At time of entry into HOS database. |
Prospective and |
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No set points for data collection |
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Retrospective |
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thereafter |
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Survival |
Malik V, et al. Int J Pediatr
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Age at death |
In the event |
Retrospective |
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Otorhinolaryngol. |
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2013;77(7):1204-1208 |
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NCT03292887
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Age at death |
In the event |
Prospective and |
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Retrospective |
Acute Otitis |
Keilmann A, et al. J Inherit
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Database review—HOS: present/ |
At time of entry into HOS database. |
Retrospective |
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Media (AOM) |
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Metab Dis.
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absent |
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No set points for data collection |
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2012;35:343-353 |
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thereafter |
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Tinnitus |
Keilmann A, et al. J Inherit
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Database review—HOS: present/ |
At time of entry into HOS database. |
Retrospective |
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Metab Dis. |
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absent |
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No set points for data collection |
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2012;35:343-353 |
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thereafter |
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Tympanic |
Keilmann A, et al. J Inherit
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Database review—HOS: present/ |
At time of entry into HOS database. |
Retrospective |
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membrane |
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Metab Dis. |
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absent |
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No set points for data collection |
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perforation |
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2012;35:343-353 |
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thereafter |
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Cho Y, et al. Audiol
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Otoscopy |
1 measurement time point
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Prospective |
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Neurotol. 2008;13:206- |
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2I2 |
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Vertigo |
Keilmann A, et al. J Inherit
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Database review—HOS: present/ |
At time of entry into HOS database. |
Retrospective |
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Metab Dis. |
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absent |
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No set points for data collection |
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2012;35:343-353 |
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thereafter |
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Chronic Otitis |
Keilmann A, et al. J Inherit
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Database review—HOS: present/ |
At time of entry into HOS database. |
Retrospective |
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Media (COM) |
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Metab Dis.
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absent |
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No set points for data collection |
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2012;35:343-353 |
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thereafter |
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Turbulent Ear |
NCT03292887
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Present/absent |
At time of entry into HOS database. |
Prospective and |
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Discharge |
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No set points for data collection |
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Retrospective |
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thereafter |
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Middle ear |
Cho Y, et al. Audiol
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Impedance audiometry |
I measurement time point
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Prospective |
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function |
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Neurotol 2008;I3:206- |
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212 |
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Language |
Cho Y, et al. Audiol
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1. Preschool Language Scale, |
I measurement time point
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Prospective |
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development |
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Neurotol. 2008;13:206- |
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Picture Vocabulary Test, Test of |
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and |
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2I2 |
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Language Development |
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communication |
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- Primary |
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skills |
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2. Evaluating Acquired Skills in |
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Communication |
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- Revised |
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NCT02455622 |
Vineland Adaptive Behaviour Scales |
Baseline to minimum 5 years post |
Prospective |
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(domain: communication) |
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enrolment |
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NCT03333200 |
No details available on ClinicalTrials. |
15 years total: 3 months the first |
Prospective |
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gov |
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year, every 6 months the second |
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year and once a year thereafter |
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Nonsurgical |
Cho Y, et al. Audiol
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Hearing aid: present/absent |
I measurement time point
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Prospective |
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intervention to |
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Neurotol. 2008;13:206- |
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ears |
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2I2 |
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NCT03292887
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Hearing aid: present/absent |
At time of entry into HOS database. |
Prospective and |
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No set points for data collection |
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Retrospective |
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thereafter |
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Temporal Bone |
Cho Y, et al. Audiol
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CT |
I measurement time point
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Prospective |
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status |
|
Neurotol. 2008;13:206- |
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2I2 |
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Nasal congestion/ |
NCT03292887
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Present/absent |
At time of entry into HOS database. |
Prospective and |
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obstruction |
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No set points for data collection |
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Retrospective |
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thereafter |
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Rhinorrhea |
NCT03292887
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Present/absent |
At time of entry into HOS database. |
Prospective and |
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No set points for data collection |
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Retrospective |
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thereafter |
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Nasal polyps |
NCT03292887
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Present/absent |
At time of entry into HOS database. |
Prospective and |
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No set points for data collection |
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Retrospective |
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thereafter |
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Sinus involvement |
NCT03292887
|
Present/absent |
At time of entry into HOS database. |
Prospective and |
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No set points for data collection |
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Retrospective |
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thereafter |
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