Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Study Overview
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Brief Summary
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Neuronal Ceroid Lipofuscinosis (NCL) also known at Batten's disease is the most common neurodegenerative disorder in children. Families often report the patient has a sleep disturbance. This is a questionnaire to be completed by the family to better understand the sleep pattern and sleep difficulties experienced by individuals who have been diagnosed with NCL.

Detailed Description
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Neuronal Ceroid Lipofuscinosis (NCL) is the most common neurodegenerative disorder in children characterized by seizures, blindness, ataxia, myoclonia and loss of cognition. There are 12 clinical types identified with a concurrent genetic abnormality. The diagnosis is determined by gene testing and skin biopsy findings although genetic testing has supplanted skin biopsy in most cases. Numberous studies have confirmed the presence of sleep disorder in patients with NCL but these cases were documented over a decade ago. The investigators would like to study the prevalence of sleep disorders in this group of patients. The investigators will distribute a Children's Sleep Habits Questionnaire (CSHQ) to the family of the patient to complete and provide a information regarding the patient's sleep. In addition to the validated sleep questionnaire a separate demographic questionnaire will be given to the family to identify the type of NCL, presence or absence of blindness, presence or absence of seizures, interventions tried to treat sleep disturbance. The last questions of the study are asking for the presence or absence of Restless Leg Syndrome symptoms.

Official Title
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Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Conditions
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Neuronal Ceroid Lipofuscinosis, Batten's Disease

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: patient with a known diagnosis of Neuronal Ceroid Lipofuscinosis (NCL) by DNA or electron microscopy studies Family member completing study must be able to read and understand the Children's Sleep Habits Questionnaire (CSHQ) and Demographic questions Exclusion Criteria: patient without a confirmed diagnosis of NCL Family member completing the study is unable to read and understand the questionnaires
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Neuronal ceroid lipofuscinosis patients<br>Caregiver of patient with NCL to provide information regarding patient's sleep habits | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Sleep disturbance | Identify the presence of sleep disturbance in children with Neuronal Ceroid Lipofuscinosis using the Children's Sleep Habits Questionnaire (CSHQ) and using the 8 subscales further identify specific areas of difficulty | one year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Epilepsy onset | Correlate the onset of sleep difficulties with history of epilepsy | one year | 
| Blindness | Correlate the onset of sleep difficulties with loss of vision | one year | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Neuronal Ceroid Lipofuscinosis, NCL, Batten's Disease, Children's Sleep Habits Questionnaire, Restless Leg Syndrome