Medical Genetics for Paediatric Neurologists
Study Course Implementer
Residency Speciality
-
About Study Course
Objective
Learning Outcomes
Knowledge
1.To acquire knowledge about the principles of paediatric medical genetics, clinical manifestations of genetic diseases, diagnostic possibilities and differential diagnosis, genetic causes of paediatric neurological diseases.
Skills
1.Able to use theoretical knowledge and practical skills to prescribe genetic laboratory examinations and interpret results thereof, diagnose the most common genetic diseases, prescribe examinations to find out the genetic causes of paediatric nervous diseases.
Competences
1.Independently plans and organises the improvement and development of one’s professional competence. Formulates the choice of a genetic examination method for the diagnosis of genetic causes of paediatric nervous system diseases, critically analyses examination method results, integrates the knowledge of medical genetics in the development and expansion of the competence of the paediatric neurologist specialty.
Assessment
Individual work
|
Title
|
% from total grade
|
Grade
|
|---|---|---|
|
1.
Individual work |
-
|
-
|
|
Getting acquainted with medical literature relevant to the course, analysis thereof, independent preparation for seminars, preparation of presentations on topics covered in seminars, current clinical cases.
|
||
Examination
|
Title
|
% from total grade
|
Grade
|
|---|---|---|
|
1.
Examination |
-
|
-
|
|
Oral exam – analysis of a clinical case.
|
||
Study Course Theme Plan
-
Seminar
|
Modality
|
Location
|
|
|---|---|---|
|
On site
|
Specialized room
|
Topics
|
Diagnostic methods in genetics
|
-
Seminar
|
Modality
|
Location
|
|
|---|---|---|
|
On site
|
Specialized room
|
Topics
|
Neurological diseases caused by metabolic disorders
|
-
Seminar
|
Modality
|
Location
|
|
|---|---|---|
|
On site
|
Specialized room
|
Topics
|
Neurological syndromes associated with chromosomal pathology
|
-
Seminar
|
Modality
|
Location
|
|
|---|---|---|
|
On site
|
Specialized room
|
Topics
|
Neurological syndromes associated with mitochondrial pathology
|
Bibliography
Required Reading
Swaiman's Pediatric Neurology. 6th Edition, Kenneth Swaiman. 5th May 2017, Elsevier, 1432 lpp
Fenichel's Clinical Pediatric Neurology. 7th Edition, A Signs and Symptoms Approach. By J Eric Piña-Garza 412 pages, 2013
Thomas T. Warner, and Simon R. Hammans. Practical Guide to Neurogenetics. 2009, Elsevier
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 6th Edition, Academic Press, July 7, 2020