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Background: Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the first and only approved treatment for CLN2 disease and the first approved enzyme replacement therapy administered via intracerebroventricular infusion.Methods: A meeting of health care professionals from US institutions with experience in cerliponase alfa treatment of children with CLN2 disease was held in November 2018. Key common practices were identified, and later refined during the drafting of this article, that facilitate safe chronic administration of cerliponase alfa.Results: Key practices include developing a multidisciplinary team of clinicians, pharmacists, and coordinators, and institution-specific processes. Infection risk may be reduced through strict aseptic techniques and minimizing connections and disconnections during infusion. The impact of intracerebroventricular device design on port needle stability during extended intracerebroventricular infusion is a critical consideration in device selection. Monitoring for central nervous system infection is performed at each patient contact, but with flexibility in the degree of monitoring. Although few institutions had experienced positive cerebrospinal fluid test results, the response to a positive cerebrospinal fluid culture should be determined on a case-by-case basis, and the intracerebroventricular device should be removed if cerebrospinal fluid infection is confirmed.Conclusions: The key common practices and flexible practices used by institutions with cerliponase alfa experience may assist other institutions in process development. Continued sharing of experiences will be essential for developing standards and patient care guidelines. [ABSTRACT FROM AUTHOR]

Objective: The objective was to identify unique features of the photoparoxysmal response seen in patients with neuronal ceroid lipofuscinosis type 2 as compared to patients with a photoparoxysmal response associated with other epilepsy syndromes. Methods: Electroencephalograms from patients with neuronal ceroid lipofuscinosis type 2 seen at the authors’ institution in the past 10 years as well as electroencephalograms (EEGs) reported to have a photoparoxysmal response during a single year were reviewed. Results: A photoparoxysmal response was seen in 60% of the patients with neuronal ceroid lipofuscinosis type 2. This was most commonly seen with low frequency intermittent photic stimulation (76%) which often occurred in a time-locked fashion (63%) and was seen on the patient’s initial EEG (78%). A unique pattern the authors called “sentinel” discharge was identified in 30% of EEGs in patients with neuronal ceroid lipofuscinosis. Conclusions: Photoparoxysmal responses in patients with neuronal ceroid lipofuscinosis type 2 have features which are distinguishing from photoparoxysmal responses seen in other epilepsies. [ABSTRACT FROM AUTHOR]

Batten disease is a rare, progressive neurogenetic disorder composed of 13 genotypes that often presents in childhood. Children present with seizures, vision loss, and developmental regression. Neurorehabilitation services (i.e., physical therapy, occupational therapy, and speech-language therapy) can help improve the quality of life for children and their families. Owing to the rarity of Batten disease, there are no standardized clinical recommendations or outcome assessments. To describe developmental profiles, current dose of neurorehabilitation, and outcome assessments used clinically for children diagnosed with Batten disease. Electronic medical records of 70 children with Batten disease (subtypes n = 5 CLN1; n = 25 CLN2; n = 23 CLN3; n = 17 CLN6) were reviewed (7.0 ± 3.4 years). Descriptive statistics were used to describe clinical features, developmental skills, dose of neurorehabilitation, and outcome assessment use. Across CLN subtypes, most children experienced vision impairments (61%) and seizures (68%). Most children demonstrated delays in fine motor (65%), gross motor (80%), cognitive (63%), and language skills (83%). The most common frequency of neurorehabilitation was weekly (42% to 43%). Two standardized outcome assessments were used to track developmental outcomes: Peabody Developmental Motor Scales, second edition (30% of children completed this assessment) and Preschool Language Scales, fifth edition (27.4% of children completed this assessment). Neurorehabilitation professionals should understand the clinical features and prognosis for children with Batten disease. The child's clinical features and family preferences should guide the rehabilitation plan of care. Future work needs to be completed to define dosing parameters and validate outcome assessments for neurorehabilitation services. [ABSTRACT FROM AUTHOR]

Purpose: The aims of this study were to evaluate sleep difficulties in children with neuronal ceroid lipofuscinosis and to determine the association between the sleep difficulties and the onset of seizures and loss of vision.Method: We recruited individuals with a confirmed diagnosis of neuronal ceroid lipofuscinosis. We obtained information from the caregiver using the validated Children's Sleep Habits Questionnaire which is a sleep instrument for both behaviorally and medically based problems. Additional information was collected including onset of symptoms, treatment trials, and screen for restless leg syndrome symptoms.Results: In our cohort of 54 individuals, 96.3% had sleep scores consistent with a sleep disturbance. Sleep subscale analysis provided additional insight into the characteristics of the sleep disturbance. Fifty two of the 54 patients had at least one abnormal sleep subscale. The onset of sleep disturbance was associated with the onset of both seizures (ρ = 0.5834, P < 0.0001) and loss of vision (ρ = 0.3840, P = 0.0084). Restless leg syndrome symptoms were reported in 35.2%.Conclusion: Children with neuronal ceroid lipofuscinosis have a high burden of sleep disturbances. Using the results of a sleep disturbance screening tool can help to identify the most disturbing symptoms. Targeted treatment of sleep disturbance may improve the quality of life for the patient and family. [ABSTRACT FROM AUTHOR]