1. Introduction and Relevance of Neuroimaging Brain Magnetic Resonance (MRI) constitutes the first-line complementary test after the anamnesis and detailed neurological examination in all children with suspected Childhood Cerebral Palsy (CPI). It is estimated that MRI reveals pathogenic abnormalities in more than 80% of cases, providing guidance on the...
Continue reading «Parálisis cerebral infantil y RM. Cuando pedir estudios genéticos.»
Next-generation sequencing (NGS) studies present variable diagnostic yields depending on the clinical characteristics of the patient. Certain symptoms and phenotypic findings have been consistently associated with a higher likelihood of obtaining a definitive genetic diagnosis. These include intellectual disability, multiple congenital malformations, early-onset epilepsy, disorders...
Continue reading «Síntomas que incrementan la probabilidad de diagnóstico en NGS (yield).»
Facial Phenotypes in Cornelia de Lange Syndrome (CdLS) Cornelia de Lange syndrome (CdLS) is associated with a characteristic facial dysmorphic pattern that facilitates its clinical diagnosis: Synophridia: Very well-defined eyebrows, arched and united in the midline, along with unusually long eyelashes. Nasal anomalies: Short nose with depressed nasal bridge,…
SCNx Database: A Rigorous Clinical Guide SCN Portal is an online database developed by the Broad Institute that provides information on the genetics and biology of sleep. This tool is valuable to medical professionals, especially neuropediatricians, as it offers a detailed resource on the spectrum of disorders…
Clinical Indicators of PCI Genetics Table 2. Summary of Indicators for Cerebral Palliacy Genetics Moderate Strong Possible 1. Dyskinesia2. Absence of spasticity3. Consanguinity∗4. Positive family history∗ 1. Intellectual disability2. Absence of premature birth3. No unilateral symptoms 1. Absence of perinatal risk factors2. Altered vision3. Microcephalus ∗ Known genetic indicator; comparison with the reference population…
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...
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. These criteria are fundamental to ensure that treatment and follow-up decisions are based on…
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.
