The investigators propose a study to assess cognitive and developmental outcomes of patients with CLN2 that are untreated and receiving cerliponase alfa. This study aims to validate standardized assessment measures to establish a standard of care. The secondary aim is to compare cognitive and developmental outcomes of patients with CLN2 that are receiving celiponase alfa to a natural history cohort. To accomplish specific aims of the study, the investigators will use a multi-method approach to collect retrospective data collected as standard of care and prospective developmental data in children with CLN2 disease. The investigators will use a combination of standardized measures that include direct assessment and parent report of child development. The investigators focus will also include multiple measures of development including language, motor, social-emotional, and adaptive functioning.
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Changes in Visual Reception Skills on the Mullen Scales of Early Learning
Timeframe: up to 4 years
Changes in Fine Motor Skills on the Mullen Scales of Early Learning
Timeframe: up to 4 years
Changes in Receptive Language Skills on the Mullen Scales of Early Learning
Timeframe: up to 4 years
Changes in Expressive Language Skills on the Mullen Scales of Early Learning
Timeframe: up to 4 years
Motor and Language Changes on the CLN2 disease rating scale
Timeframe: up to 4 years