The neurological examination of the child must be adapted to the moment of neurodevelopment, and therefore different exploratory techniques must be performed depending on age. It is necessary to have a minimum of examination material in the consultation. University of Utah website with video tutorial on the neurological examination of the 0...
Category archives: Clinical guide
PredWES
PredWES is a tool for calculating the probability of positive results in exome sequencing studies based on clinical findings. It can be used for evidence-based decision making when requesting genetic studies. Indications for performing NGS sequencing:
Treatable-ID
Treatable ID is a website and mobile application aimed at healthcare professionals, with the aim of organizing and systematizing the different metabolic diseases that can present developmental delay and intellectual disability as a clinical manifestation, to allow selecting and directing the diagnostic study. It has a section oriented by symptoms, which allows you to adjust...
Vademecum Metabolicum
The Vademecum Metabolicum website contains all the necessary information for the study, diagnosis, and treatment of inborn errors of metabolism.
International Headache Classification-3
https://ichd-3.org/
Child Muscle Weakness
On the Child Muscle Weakness website, a detection algorithm and training videos for the identification of neuromuscular symptoms in the pediatric age can be found.
Epilepsioma. Genetics in epilepsy.
The ILAE commission for genetics in epilepsy has a blog called Beyond the Ion Channel, with reviews on the different genes involved in epilepsy: The Epilepsiome.
Epilepsy Diagnosis
The ILAE has a website called EpilepsyDiagnosis, with information on the different epilepsy syndromes and their diagnostic criteria, EEG features, neuroimaging, and genetics, as well as the pharmacological treatments indicated in each case. Registration is free, and once inside the user section, a video atlas is available to view the semiology of …
Human Phenotype Ontology
Currently, the use of computerized tools for information search makes it necessary to use standardized and coded nomenclature to refer to the dysmorphic signs that are part of the clinical phenotype. A significant effort has been made to systematize this nomenclature, adding an HPO code that can be searched on the Human … website.
Decipher Genome Browser
Method of use: In your comparative genomic hybridization array report, there will be a table with the CNVs identified in the patient. In each CNV, the chromosome on which it is located will be identified, as well as the start and end nucleotide positions (usually numbers on the order of a million …