Table 4 Assessments, statements and consensus data
Statement | Responders | Evidence level | Consensus |
|---|---|---|---|
In order to monitor the disease progression, it is recommended that a patient receives baseline assessment to track disease progression, a series of tests where possible including EEG, Visual Exam, Epilepsy Record and Medication Utilisations, a record of MRI scans and cognitive testing. These exams focusing on physical and neurological manifestations should be repeated on an interval agreed to by the MDT (6Â months or annually) | 41 | C | 84 |
Currently, two tools are used for disease progression, namely the Hamburg Scale and the Unified Batten Disease Rating Scale, which are most widely used and accepted within the CLN2 Community | 38 | B | 85 |
A comprehensive medical history and multi-system evaluation should be conducted following diagnosis and at parent and care providers discretion to set a baseline for ongoing assessments and evaluate the physical and neurological manifestations of disease, functional ability and disease burden | 40 | C | 90 |
Ongoing and regular multi-system monitoring and assessments are recommended to track the natural history of CLN2, monitor the impact of treatment and assess the need for treatment interventions to manage the symptoms of CLN2. These should be conducted at every clinic visit, annually or in some cases as clinically indicated | 41 | D | 90 |
A physical examination should be performed during every visit to assess general health, growth, vital signs, visual performance, frequency of seizures, developmental assessment and new significant medical events | 41 | NA | 90 |
MRI of the brain is recommended at diagnosis if not already performed in patients with CLN2 and should be repeated as needed | 40 | D | 89 |
Age-appropriate evaluations by an ophthalmologist are recommended every 6Â months if possible, or at least annually | 39 | NA | 92 |
Annual or more frequently if needed patient-reported outcomes is recommended to capture disease impact on patients and their families | 40 | NA | 90 |
Regular therapy and assessments should be provided in a comfortable local setting agreed with the family by physiotherapists and speech therapists and anticipatory/timely provision of supportive devices, as well as regular therapy such as music therapy and other activities that reflect the interest of the patient | 37 | NA | 95 |