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Establish of high-risk screening criteria to earlier identify possible childhood LOPD for early treatment and better prognosis. Therefore, validation of the high-risk screening criteria for childhood LOPD will be critical for identifying children of LOPD in Taiwan.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| suspect LOPD |
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| Measure | Description | Time Frame |
|---|---|---|
| clinical signs/symptoms surveyed - Weakness in neck (No.1) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| clinical signs/symptoms surveyed - Symptoms and signs of muscle weakness (No.2) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. Symptoms and signs of muscle weakness including Frequent fall, difficulty to climb stairs, poor performance in physical education classes, gait abnormalities or facial weakness. | 2 years |
| clinical signs/symptoms surveyed - Unable to speak clearly / keep slobbering (No.3) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| clinical signs/symptoms surveyed - Scoliosis (No.4) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects who are >1 year and < 18 year of age will be enrolled from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Wen-Chin Weng | Recruiting | Taipei | Taiwan |
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| ID | Term |
|---|---|
| D006009 | Glycogen Storage Disease Type II |
| ID | Term |
|---|---|
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
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| 2 years |
| clinical signs/symptoms surveyed - Motor developmental delay (No.5) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| clinical signs/symptoms surveyed - Persist diarrhea with unknown cause (No.6) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| clinical signs/symptoms surveyed - Frequent respiratory infections (No.7) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| clinical signs/symptoms surveyed - Morning headache (No.8) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| clinical signs/symptoms surveyed - Urinary / Fecal incontinence (No.9) | Children from outpatient clinics of pediatric neurology, pediatric orthopedics and pediatric rehabilitation in NTUH will be surveyed whether they have clinical signs/symptoms. Any patients who fulfill symptom No. 1 or 3 associated to the difficulty of flexing the neck from supine position or accumulated 3 findings from pediatric orthopedics and pediatric rehabilitation will be referred to pediatric neurology for double confirmation that patients meet the criteria. | 2 years |
| dry blood sample (DBS) - GAA activity analysis | Then we will use dry blood sample (DBS) or whole blood sample for screening the possibility of Pompe disease. | 2 years |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D006008 | Glycogen Storage Disease |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |