There are several resources to facilitate the interpretation of psychometric tests. The main difficulty they present is knowing which standardized scores each one uses, what its mean and standard deviation are, in order to transform them into the scoring system that is most comfortable or to which we are most accustomed (z, for …
Author archives: Alberto Alcantud
Nutritional strategies in PCI
https://www.nestlehealthscience.es/vivirconlaparalisiscerebralinfantil/hcp/nutricion/estrategias-de-nutricion
Pathogenicity of a variant.
To establish the causality of a genetic variant with respect to a phenotype, sufficient scientific evidence must be obtained. The pathogenicity classification proposed by the ACMG establishes 5 classification categories: Benign, likely benign, variant of uncertain significance, likely pathogenic, and pathogenic. These categories are defined based on the probability that a … exists.
Radiopaedia
Radiopaedia is a free, collaborative online resource containing high-quality radiological information and images.
Gene Reviews
GeneReviews is a resource from the United States National Institutes of Health, which compiles updated and high-quality information on genetic diseases, including examinations that should be performed at diagnosis and the health program recommended for follow-up.
Rarechromo
Rarechromo is the website of the Unique association, a UK NGO dedicated to creating quality information on genomic and chromosomal disorders.
Neurological examination of the child.
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...
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.