Clinical Trial: Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities

Brief Summary: 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 Summary: 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.
Sponsor: Nationwide Children's Hospital

Current Primary Outcome: Sleep disturbance [ Time Frame: one year ]

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


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Epilepsy onset [ Time Frame: one year ]
    Correlate the onset of sleep difficulties with history of epilepsy
  • Blindness [ Time Frame: one year ]
    Correlate the onset of sleep difficulties with loss of vision


Original Secondary Outcome: Same as current

Information By: Nationwide Children's Hospital

Dates:
Date Received: September 25, 2013
Date Started: July 2013
Date Completion:
Last Updated: July 25, 2016
Last Verified: July 2016