Optokinetic nystagmus is a maneuver that allows the assessment of the visual system as a whole, especially in non-cooperative patients. The SmartOptometry app can be used to get an optokinetic drum.
Category archives: Clinical guide
Clinical indicators of genetic PCI.
Table 2. Overview of Indicators for Genetic Cerebral Palsy Strong Moderate Possible 1.Dyskinesia2.Absence of spasticity3.Consanguinity∗4.Positive family history∗ 1. Intellectual disability2. Absence of preterm birth3. No unilateral symptoms 1. Absence of perinatal risk factors2. Visual impairment3. Microcephaly ∗ Well-known genetic indicator; comparison with reference population was not possible because it was not reported in cerebral palsy literature.
Nirsevimab in pediatric neurology.
Indications for treatment with nirsevimab beyond universal immunization of the newborn (replaces the indications for palivizumab). Hasta los 24 meses (2 campañas vacunales).
GMFCS E&R.
BFMF fine motor scale PCI
SARA scale ataxias
Clinical exome, first tier?
Technological evolution in genomics has a very fast speed and clinical guidelines become obsolete with respect to usual clinical practice, so that professionals frequently find themselves with questions that are difficult to answer. Much has happened since the 2003 AAN guidelines, in which it was proposed as the first step...
Do animals have autism?
The diagnosis of autism is based on the presence of 2 dimensions of symptoms: Rómulo is the oldest male white rhinoceros (Ceratotherium simum) of the four specimens that lived in the park and the most endearing for Valencians, who have been able to see him first in Viveros and later in Bioparc. He was born in 1979 in England. …
ACMG pathogenicity criteria.
ACMG (American College of Medical Genetics and Genomics) Pathogenicity Criteria The criteria established by the ACMG and the AMP (Association for Molecular Pathology) guide the classification and clinical interpretation of genetic variants identified in molecular studies: Pathogenic: Overwhelming scientific evidence demonstrating that the variant causes the disease. Probably Pathogenic: High probability…
Indication of cosegregation.
Carrying out cosegregation studies has 2 main uses: Example: Variant classified as probably pathogenic, which after applying the PS2 criterion is reclassified as pathogenic. Example 2: Probably pathogenic variant that is reclassified as pathogenic.