Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities
| Status: | Completed |
|---|---|
| Conditions: | Neurology, Women's Studies |
| Therapuetic Areas: | Neurology, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 7/27/2016 |
| Start Date: | July 2013 |
| End Date: | July 2016 |
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.
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.
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.
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.
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
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