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The aim of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and agenesis of corpus callosum might be present SOD but associated to other features / structural and functional anomalies.
Included patients and their caregivers will be asked to compile standardize sleep questionnaires and a sleep screening through an interview will be scheduled. Patients will be asked to wear an actigraph on their non-dominant hand wrist for 7 days.
The primary objective of this study is to evaluate sleep of patients with septo-optic dysplasia compared to patients with an isolated disorder of peripheral visual system and patients with corpus callosum agenesis since both visus defict and agenesis of corpus callosum might be present SOD but associated to other features / structural and functional anomalies.
The secondary aims of this study are the following:
Three groups of patients will be included:
This is an observational monocentric study. The procedures in the study that are not included in current clinical practice in the follow-up pathway of the included patients are the following:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with Septo-optic dysplasia, visual deficit and agenesis of corpus callosum |
|
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Actigraphy, blood and salivary sample, and sleep evaluation | Diagnostic Test |
|
| Measure | Description | Time Frame |
|---|---|---|
| Sleep profile ( Sleep quality, sleep efficiency) of patients with SOD | SLEEP QUALITY will be assessed through standardized questionnaires :Pittsburgh Sleep Quality Index: self-completed questionnaire ;Epworth Sleepiness Scale: self-completed questionnaire assessing daytime sleepiness; Children sleep habits questionnaire . Sleep quality and sleep-wake cycle will be evaluated, namely Child's inability to go to bed, the delay in falling asleep, sleep duration, overnight awakenings, anxiety related to sleep, parasomnia, respiratory disorders, and daytime sleepiness. SLEEP EFFICIENCY will be measured by actigraphic assessment of sleep efficiency (the ratio of total sleep time to sleep period), total nighttime sleep duration, rest activity and number of awakenings. | 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| melatonin profile of patients with SOD | For each subject, blood and and saliva samples will be collected and Serum and salivary concentrations of melatonin and of its main metabolite 6-hydroxymelatonin will be measured in samples collected from all patients by using a validated LC-MS method with minor modifications (Magliocco et al 2021). | 12 months |
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Inclusion criteria group A:
Inclusion criteria group B:
Inclusion criteria group C
Exclusion criteria group A:
Exclusion criteria group B:
Exclusion criteria group C
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Three groups of patients will be included:
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS Casimiro Mondino Foundation | Recruiting | Pavia | PV | 27100 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39819934 | Derived | Pasca L, Morelli F, Catalano G, Quaranta CA, Vitali H, Ballante E, Dattrino F, Crema F, Rota P, Varesio C, De Giorgis V, Romaniello R, Signorini S, Franco V. Sleep profile in patients with septo-optic-pituitary dysplasia: protocol for a prospective cohort study. BMJ Open. 2025 Jan 15;15(1):e090675. doi: 10.1136/bmjopen-2024-090675. |
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| ID | Term |
|---|---|
| D025962 | Septo-Optic Dysplasia |
| D061085 | Agenesis of Corpus Callosum |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| ID | Term |
|---|---|
| D000093922 | Congenital Cranial Dysinnervation Disorders |
| D015840 | Oculomotor Nerve Diseases |
| D015835 | Ocular Motility Disorders |
| D003389 | Cranial Nerve Diseases |
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| ID | Term |
|---|---|
| D056044 | Actigraphy |
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D008991 | Monitoring, Physiologic |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D061725 | Accelerometry |
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Blood; saliva
|
| Sleep EEG description of patients with SOD | A Sleep EEG recording will also be scheduled at the time of study inclusion/evaluation. Previously performed EEG will be revised. EEG assessment will include the analysis of background activity, presence/absence of physiological sleep elements, interictal discharges, sleep macrostructure and microstructure ( spindle characteristics). | 12 months |
| D009422 | Nervous System Diseases |
| D009421 | Nervous System Malformations |
| D000080344 | Optic Nerve Hypoplasia |
| D005128 | Eye Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D020763 | Pathological Conditions, Anatomical |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D012816 | Signs and Symptoms |
| D008919 |
| Investigative Techniques |
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |