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Alternating Hemiplegia of Childhood (AHC) is a very rare neurological disorder of genetic origin, combining paroxysmal episodes and neurodevelopmental impairment. The disease is generally sporadic, and its incidence has been estimated at 1 in 100,000 births, with around 500 cases published worldwide. The true prevalence of AHC may be underestimated due to a lack of understanding of the disease and a high degree of phenotypic heterogeneity.
It should be noted that, to date, it is difficult to assess the clinical characteristics of AHC patients in a homogeneous way. The lack of disease-specific clinical outcome measures therefore constitutes a critical node for advancing AHC research. In addition, recognition of the pattern of movement disorders and the ability to classify their severity are very important and useful for the clinician. Homogeneous disease assessment will help plan rehabilitative and pharmacological interventions, facilitate monitoring of treatment outcomes, and predict prognosis.
This is why an AHC assessment scale have been developed in collaboration with clinical teams from the IAHCRC consortium.
The scale has already been tested and validated on Italian and Spanish patients. The aim of this study is therefore to validate the use of this same scale on our French population of AHC patients. The hypothesis of the study is that the practical use of this scale specific to alternating hemiplegia is reproducible. To this end, all the items on the scale will be scored independently for each patient by 4 neuropediatricians with expertise in the disease, in order to observe the reproducibility of the results obtained with this scale. The scale will be used for twenty AHC patients of all ages.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with alternating hemiplegia | Patients with alternating hemiplegia, from 0 to 99 years old |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| interview with neurologist | Other | interview with neurologist |
|
| Measure | Description | Time Frame |
|---|---|---|
| Composite primary endpoint : - missing data from the scale <5 - mean scores compared between the 4 neurologists are close to the scale's mid-point, i.e. floor and ceiling effects are < 20%, and skewness statistics are between 21 and 11 | All statistical tests will be performed using SPSS version 24.0 statistical software, and P < 0.05 will be considered significant. Validation of the use of the scale based on the results obtained independently by the 4 expert neurologists using a composite primary endpoint consisting of three criteria:
| At inclusion |
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Inclusion Criteria:
Adult patients :
Minor patients :
Exclusion Criteria:
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Patients likely to participate in the study will be identified within the ESEFNP Department - Clinical Epileptology, Sleep Disorders, Functional Child Neurology, Hôpital Femme Mère Enfant, (HCL) as part of their regular medical follow-up. 20 AHC patients will be included in this study.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Service d'Epileptologie Clinique, des Troubles du Sommeil et de Neurologie Fonctionnelle de l'Enfant | Bron | Rhone | 69500 | France |
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| ID | Term |
|---|---|
| C536589 | Alternating hemiplegia of childhood |
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| ID | Term |
|---|---|
| D007407 | Interviews as Topic |
| D000072141 | Neurologists |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D010820 | Physicians |
| D006282 | Health Personnel |
| D005159 | Health Care Facilities Workforce and Services |