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In approximately half of individuals with Down syndrome, an higher than normal number of vessels cross the optic disc margin. Investigator hypothesize that early retinal vessel branching occurs due to inhibition of angiogenesis by triplet overexpression of endostatin, an angiogenesis inhibitor encoded on chromosome 21. Since angiogenesis is critical in the development of eyes and other organs angiogenesis depended (specially kidney, brain, and recently described lungs and heart), early branching of retinal vessels at the level of the optic disc would also likely result in abnormal renal and other organs development in these individuals. Investigator wish to determine whether observation of optic disc vessels may serve as an indicator of elevated endostatin levels and other angiogenesis-dependent organs anomalies.
Investigator will measure the serum levels of endostatin as well as others angiogenetic factors in Down syndrome children versus control group 1 constituted by the patient mothers.
Investigator will also perform renal and low urinary tract Doppler ultrasound with measurement of renal dimension in order to determine if the kidneys of patients with high level of serum of endostatin are smaller than those of patients with normal level of endostatin. Data observed in Down syndrome children will be compared to control group 2age constituted by sex and age matched healthy children Urine microalbuminuria and urine microalbuminuria/creatinuria from the first urine in the morning will be evaluated.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Study group | Other | Down Syndrome children |
|
| Control group n°1 | Other | Down Syndrome children's mothers |
|
| Control group n°2 | Other | Age and sex matched healthy children |
|
| Control group n°3 | Other | Down syndrome children's healthy siblings |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Funduscopic examination and retinal photography | Diagnostic Test | A standardized funduscopic examination and retinal photography will be performed by an ophthalmologist focusing on optic nerve. |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation between the number of retinal vessels crossing the optic disc and serum level of endostatin | correlation coefficent | 18 months |
| Measure | Description | Time Frame |
|---|---|---|
| Correlation between the number of retinal vessels crossing the optic disc and serum level of other angiogenic factors | correlation coefficent | 18 months |
| Correlation between serum level of endostatin and serum level of other angiogenic factors |
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Inclusion Criteria:
Exclusion Criteria:
• Inability to cooperate with study related examination
For "Study Group" subjects
For "Control Group n°2":
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lavina Postolache, MD | Contact | 0032 2 477 21 92 | lavina.postolache@huderf.be |
| Name | Affiliation | Role |
|---|---|---|
| Lavina Postolache, MD | Queen Fabiola Children's University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Universitaire Des Enfants Reine Fabiola | Recruiting | Brussels | 1020 | Belgium |
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Interventional controlled cross-sectional study
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| Serum levels of endostatin and angiogenesis factors | Diagnostic Test | Serum levels of endostatin, angiopoietin and vaso endothelial growth factor will be analyzed |
|
| Renal and low urinary tract Doppler ultrasound | Diagnostic Test | Measurements of each kidney will include maximum renal bipolar length in a sagittal plane, renal width and thickness in an axial plane perpendicular to each other at the level of renal hilum and cortical thickness. Intensity of corticomedullary differentiation will estimated. Doppler ultrasound examination will assess renal arterial resistivity indexes |
|
| Urinalysis | Diagnostic Test | Urinalysis assessments will include assessments of microalbuminuria and microalbuminuria to creatinuria ratio. A spot urine sample will be collected from first morning void. |
|
| Anthropometric measures and vitals signs | Diagnostic Test | weight, height and blood pressure will be assessed |
|
correlation coefficient
| 18 months |
| Description of renal anomalies in Down syndrome. | absolute number and type of renal anomalies | 18 months |
| Comparison of prevalence of renal anomalies between Down syndrome and healthy subjects | Proportion and type of disease | 18 months |
| Correlation between the number of optic nerve vessels and the presence of organs pathologies | correlation coefficient | 18 months |
| Correlation between serum level of angiogenesis factors and the presence of organs pathologies | correlation coefficient | 18 months |
| ID | Term |
|---|---|
| D004314 | Down Syndrome |
| ID | Term |
|---|---|
| D008607 | Intellectual Disability |
| D019954 | Neurobehavioral Manifestations |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D025063 | Chromosome Disorders |
| D030342 | Genetic Diseases, Inborn |
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| ID | Term |
|---|---|
| D016482 | Urinalysis |
| ID | Term |
|---|---|
| D019963 | Clinical Chemistry Tests |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D003950 | Diagnostic Techniques, Urological |
| D008919 | Investigative Techniques |
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