Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Nationwide Children's Hospital

Status: Completed

Conditions: Neuronal Ceroid Lipofuscinosis; Batten's Disease

Study type: Observational

Funder types: Other

Identifiers

NCT01966757

IRB13-00376

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 57 patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

57 participants in 1 patient group

Neuronal ceroid lipofuscinosis patients

Description:

Caregiver of patient with NCL to provide information regarding patient's sleep habits