Table 3 Clinical recommendations and management of CLN2, statements and consensus data
Statement | Responders | Evidence level | Consensus |
|---|---|---|---|
All patients with suspected CLN2 disease should be referred to a centre with expertise in managing patients with NCL disorders | 41 | NA | 95 |
The first consultation should be conducted by a physician with experience of treating CLN2, when possible, as soon as possible after diagnosis. This should include a full discussion of disease pathology, progression, treatment options and management. Ongoing information should be provided to optimise patient outcomes | 41 | NA | 95 |
A paediatric neurologist, rare disease specialist with clinical experience in CLN2 disease supported by a local multidisciplinary team, should lead the patient’s care | 41 | NA | 89 |
Holistic care is critical for CLN2 management and a multidisciplinary team (MDT) is advised where possible to manage the diverse range of disease manifestations | 41 | B | 96 |
Emotional and psychological family support should be recommended and offered by an appropriate health care provider to the patient, caregiver and full family | 41 | D | 97 |
Psychological support or counselling should be offered/made available, where available to families following diagnosis and should be informed of relevant patient organisation contacts when deemed appropriate | 41 | NA | 95 |