Table 1.
Clinical follow up in NBS and no-NBS patients.
| Defect |
Number of patients |
Mean age at diagnosis (years) |
Mean follow up duration |
Symptoms or complications at diagnosis (n. of pts) |
Complications during follow up (n. of pts) |
Mean number of emergency treatments |
Mean number of admissions to hospital |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| (years) |
(months) |
|||||||||||||
| NBS or not | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS | No-NBS | NBS |
| CUD | 2 | 3 | 18,5(20.5) | 0 | 8(1.4) | 18(18.6) | 2 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| CPTIID | 2 | – | 4.25(1.1) | – | 5.5(3.5) | – | 2 | – | 0 | – | 2(2.8) | – | 1.5(2.1) | – |
| SCADD | – | 6 | – | 0 | – | 37(22.0) | – | 0 | – | 0 | – | 0 | – | 0,3(0.5) |
| MCADD | – | 5 | – | 0 | – | 35(9.6) | – | 0 | – | 0 | – | 3.6(4.3) | – | 3(3.4) |
| VLCADD | 1 | 4 | 20 | 0 | 23 | 25(16.0) | 1 | 0 | 0 | 0 | 1 | 0.75(1.0) | 1 | 0.75(1) |
| MADD | 5 | 2 | 45.4(27.5) | 0 | 8(10.2) | 58(6.4) | 5 | 0 | 0 | 0 | 0.2(0.4) | 4.5(0.7) | 0.2(0.4) | 3.5(0.7) |
| MCADD/MADD | 1 | 2 | 44 | 0 | 1 | 32(18.4) | 1 | 0 | 1 | 0 | 0 | 0 | 0 | 0 |
| VLCADD/LCHADD | – | 1 | – | 0 | – | 15 | – | 0 | – | 0 | – | 0 | – | 0 |
| Total count | 11 | 23 | 30.6(25.5) | 0 | 8.3(8.5) | 32(18.1) | 11 | 0 | 1 | 0 | ||||
The number of newborn screening and no-screening patients, the average age at diagnosis (in years) and the average follow-up duration (in months for NBS patients and in years for no-NBS patients) are described for each defect and expressed as mean (deviation standard). Numbers in the columns of symptoms and/or complications at diagnosis and during follow-up refer to the number of patients presenting symptoms or complications. For emergency treatment column, the number refers to the mean number of emergency protocol use for each group and column for admissions to hospital refer to the mean number of admissions for acute decompensation or to prevent acute decompensation during intercurrent diseases for each group, expressed as mean (deviation standard).