Table 1.
Characteristics of the responders and the relative centers.
| Category | n (%) |
|---|---|
| Profession: | |
| Metabolic pediatrician | 41/63 (65.1) |
| Adult metabolic physician | 7/63 (11.1) |
| Clinical geneticist | 3/63 (4.8) |
| Other (neurologist, cardiologist, psychologist, genetic counselor, clinical biochemist, internal medicine/endocrinology/diabetes specialist) | 12/63 (19) |
| Metabolic conditions followed by the responder: | |
| LSD | 54/63 (87.1) |
| AOA | 52/63 (83.9) |
| C-FAO | 50/63 (80.7) |
| PM-MD | 44/63 (71) |
| CDG | 38/63 (61.3) |
| PD | 37/63 (59.7) |
| NOMS | 37/63 (59.7) |
| Center status: | |
| Adult and pediatric center | 53/63 (84.1) |
| Pediatric center only | 6/63 (9.5) |
| Adult center only | 4/63 (6.4) |
| Center following adult patients with IMDs: | |
| Yes | 59/63 (93.7) |
| No | 4/63 (6.4) |
| Center with separate adult metabolic team: | |
| Yes, for all kinds of metabolic conditions | 19/62 (30.7) |
| Yes, for the majority of metabolic conditions | 12/62 (19.4) |
| Yes, for selected groups of metabolic conditions | 12/62 (19.4) |
| No, pediatric team follows patients life-long | 5/62 (8.1) |
| Reasons for not having an adult metabolic team: | |
| Lack of interest in IMDs among adult physicians | 9/26 (34.6) |
| Patient/caregiver's preference to be followed by pediatric metabolic department | 8/26 (30.8) |
| Lack of special training for adult physicians in metabolic diseases in the country | 8/26 (30.8) |
| No existing position/vacancy for adult metabolic diseases at the center | 8/26 (30.8) |
| Lack of financial support | 5/26 (19.2) |
| Lack of extra reimbursement for adult complex metabolic patients | 5/26 (19.2) |
| Lack of adult physicians willing to be involved | 4/26 (15.4) |
| Other (historically, adult IMD patients have been taken care in the pediatric hospital; difficulties in getting more salaries for adult physicians; smooth transition by joint follow-up with both adult and pediatric physician until the patient agrees to be followed by the internist) | 14/26 (53.9) |
| Age at which transition process starts: | |
| 18 years of age | 33/63 (52.4) |
| 16 years of age | 12/63 (19) |
| 20 years of age | 2/63 (3.2) |
| Other (at 10 or 14 years of age; after 18 years of age or later; from 16 to 28 years of age, start discussion on transition from age 12; no transition process) | 16/63 (25.4) |
| Age at which transition process is finalized: | |
| >18 years of age | 32/56 (57.1) |
| 16–18 years of age | 12/56 (21.4) |
| Never, because the patient remains under pediatric care throughout his/her life | 6/56 (10.7) |
| 14–16 years of age | 0/56 (0) |
| 12–14 years of age | 0/56 (0) |
| Never, because the patient is transferred to an adult clinic without any preparation | 0/56 (0) |
| Other (for older patients the transition is finalizing now, regardless of age, while for Fabry and other patients it is finalized at 16 years of age; depends on the disease: some patients remain at least in part managed by pediatricians) | 6/56 (10.7) |
AOA, Amino and organic acids-related disorders; PM-MD, Disorder of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism; C-FAO, carbohydrate, fatty acid oxidation and ketone bodies disorders; LSD, lysosomal storage disorders; PD, peroxisomal disorders; CDG, congenital disorders of glycosylation and disorders of intracellular trafficking; NOMS, disorders of neuromodulators and other small molecules.