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| Clinical scenarios | Agreement on level of priority |
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| Neonatal period and 3-OMD screening |
| Statement 14. Considering the easiness of AADCd screening with 3-OMD dosing, I would consider its inclusion in neonatal screening programs as useful | Weighted average score: 4.59 |
| Statement 13. I would consider implementing a clinical score to support patients’ selection for 3-OMD screening in at-risk populations as useful | Weighted average score: 4.34 |
| Pediatric age | |
| Statement 1. Regarding the identification of pediatric patients to be offered 3-OMD screening for at-risk populations, hypotonia, developmental delay, movement disorders, and oculogyric crises should be considered as the most common symptoms and signs | Weighted average score: 4.86 |
| Statement 2. Regarding the identification of pediatric patients to undergo 3-OMD testing, I would rate it as important considering the following clusters of symptoms and signs as the most common: developmental delay and movement disorder with or without extraneurological symptoms | Weighted average score: 3.76 |
| Statement 3. Regarding the identification of pediatric patients to undergo 3-OMD testing, I would rate it as important to consider the following clusters of symptoms and signs as the most common: developmental delay, neurovegetative symptoms, and pseudomyasthenic features | Weighted average score: 3.62 |
| Statement 4. Regarding the identification of pediatric patients to undergo 3-OMD testing, I would rate it as important to consider the following clusters of symptoms and signs as the most common: intellectual disability, movement disorder, gastroenteric symptoms, and/or hypoglycemic episodes | Weighted average score: 3.59 |
| Teenage years—adulthood |
| Statement 12. In adolescent and adult patients with intellectual disability and movement disorder, among the following clinical or laboratory criteria I would consider as useful in order to identify patients to undergo 3-OMD testing: gastroenteric symptoms and neurovegetative symptoms | Weighted average score: 3.31 |
| Statement 10. In adolescent and adult patients with intellectual disability and movement disorder, among the following clinical or laboratory criteria I would consider as useful in order to identify patients to undergo 3-OMD testing: fatigability and eyelid ptosis | Weighted average score: 3.24 |
| Statements 9 and 11. In adolescent and adult patients with intellectual disability and movement disorder, among the following clinical or laboratory criteria I would consider as useful in order to identify patients to undergo 3-OMD testing: hyperprolactinemia and hypoglycemic episodes | Weighted average score in both cases: 3.1 |
| Atypical phenotypes |
| Statement 7. Based on the clinical characteristics of patients so far identified in Italy, I would consider other clinical phenotypes (among those proposed) to be viewed as indicative in the choice to test a patient with 3-OMD screening for AADCd: intellectual disability and parkinsonism-dystonia | Weighted average score: 3.9 |
| Statement 8. Based on the clinical characteristics of patients so far identified in Italy, I would consider other clinical phenotypes (among those proposed) to be viewed as indicative in the choice to test an at-risk patient with 3-OMD screening for AADCd: neurovegetative symptoms, hypoglycemic episodes, psychiatric symptoms, and sleep disorder | Weighted average score: 3.48 |
| Statement 5. Based on the clinical characteristics of patients so far identified in Italy, I would consider other clinical phenotypes (among those proposed) to be viewed as indicative in the choice to test a patient with 3-OMD for AADCd: intellectual disability and pseudomyasthenic features | Weighted average score: 3.28 |
| Statement 6. Based on the clinical characteristics of patients so far identified in Italy, I would consider other clinical phenotypes (among those proposed) to be viewed as indicative in the choice to test a patient with 3-OMD testing for AADCd: syndromic intellectual disability (dysmorphisms, marfanoid habitus) and neurovegetative symptoms | Weighted average score: 3.03 |
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