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Table 2 Diagnostic statements and consensus data

From: Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients

Statement Responders Evidence level Consensus %
Diagnosis of CLN2 during infancy is critical to optimise patient outcomes which would benefit by newborn screening 41 D 85
Patients with the existence of a significant speech delay or decline, clumsiness and undiagnosed/unattributed epilepsy before the age of 4 should be tested for CLN2 Disease 40 D 92
The diagnosis of CLN2 can be confirmed by low levels of TPP1 enzyme activity and should be double confirmed by detecting two disease-causing mutations in the CLN2 gene 40 C 91
Early diagnosis as soon as possible after or before symptom onset is crucial and is done by biochemical testing following unprovoked seizures and or unsteadiness in children who may also present delay/decline in psychomotor development, including speech delay 40 B 88