Children's Health Research Institute(CHRI), Stanford Lucile Packard Children Hospital (LPCH) Protocol on Myotonic Dystrophy
| Status: | Recruiting |
|---|---|
| Healthy: | No |
| Age Range: | 8 - 17 |
| Updated: | 4/2/2016 |
| Start Date: | December 2013 |
| End Date: | December 2016 |
| Contact: | John W Day, MD, PhD |
| Email: | jwday@stanford.edu |
| Phone: | 650-725-4341 |
Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy
Study to focus on the defining and managing the neuropsychological abnormalities of myotonic
dystrophy and to find out if the neuropsychological abnormalities have any correlation with
changes seen on Magnetic Resonance Imaging.
dystrophy and to find out if the neuropsychological abnormalities have any correlation with
changes seen on Magnetic Resonance Imaging.
Given the prevalence of DM, and assistance from The Myotonic Dystrophy Foundation (letter),
we anticipate full recruitment of 8-17 year old subjects with DM1. The genetic counselor
will help recruit 20 DM1 subjects, and 20 comparably aged controls, all of whom will
complete MRI and neuropsychological tests. We anticipate full participation in evoked
potential and blood tests, but estimate 30% will permit a lumbar puncture for CSF evaluation
- done at the LPCH Ambulatory Procedure Unit with sedation as necessary. In total 40 MRIs
will be done over 2 years, or 20 annually. Testing of Subjects
All neuropsychological evaluations will be performed in the morning in attempt to
standardize wakefulness and stamina. Dr. Day's assessment of clinical status (~45 min)
utilizes the Stanford myotonic dystrophy questionnaire, the University of Rochester MDHI,
and the muscular impairment rating scale (MIRS)57, and records vital signs, current
medications, spirometer, and disease history and progression. Given the frequency of sleep
disorders in DM, subjects will complete the Affiliated Sleep Questionnaire, an online
collection of extensive information in standardized format (see letter Dr. Mignot). After
the clinical and neuropsychological assessments the subject and family members will have
lunch prior to the MRI(75 min). In the mid-afternoon subjects will have evoked potentials in
the Electrodiagnostics Lab(~90 min) followed by a lumbar puncture (if consenting) and blood
draw in the LPCH APU(90 min). Subjects return home the same day, and Ms. Paulose contacts
them several days later for feedback.
we anticipate full recruitment of 8-17 year old subjects with DM1. The genetic counselor
will help recruit 20 DM1 subjects, and 20 comparably aged controls, all of whom will
complete MRI and neuropsychological tests. We anticipate full participation in evoked
potential and blood tests, but estimate 30% will permit a lumbar puncture for CSF evaluation
- done at the LPCH Ambulatory Procedure Unit with sedation as necessary. In total 40 MRIs
will be done over 2 years, or 20 annually. Testing of Subjects
All neuropsychological evaluations will be performed in the morning in attempt to
standardize wakefulness and stamina. Dr. Day's assessment of clinical status (~45 min)
utilizes the Stanford myotonic dystrophy questionnaire, the University of Rochester MDHI,
and the muscular impairment rating scale (MIRS)57, and records vital signs, current
medications, spirometer, and disease history and progression. Given the frequency of sleep
disorders in DM, subjects will complete the Affiliated Sleep Questionnaire, an online
collection of extensive information in standardized format (see letter Dr. Mignot). After
the clinical and neuropsychological assessments the subject and family members will have
lunch prior to the MRI(75 min). In the mid-afternoon subjects will have evoked potentials in
the Electrodiagnostics Lab(~90 min) followed by a lumbar puncture (if consenting) and blood
draw in the LPCH APU(90 min). Subjects return home the same day, and Ms. Paulose contacts
them several days later for feedback.
Inclusion Criteria:
- 20 subjects with Myotonic Dystrophy type 1 aged 8 to 17 years and 20 controls who are
healthy volunteers or siblings of affected subjects.
Exclusion Criteria:
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