Category archives: Clinical guide
Sinaptopatías.
The comorbid diagnosis of ASD and ID requires that social communication be below what is expected for the general developmental level (Criterion E of DSM-5). The clinical differentiation between both entities in young children or those with severe disability is particularly complex, requiring a multidisciplinary approach and systematic phenotypic refinement.
SLC, solute carriers
The prevalence of ASD in individuals with ID is higher than in the general population, and its precise identification is fundamental for designing a specific therapeutic plan.
In cis.
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Spliceopathies.
Embedded from Autism spectrum disorder.
CSWS
POCS: Puntilla Ondalosa Continua del Sueño La puntilla ondalosa continua del sueño (POCS) es una encefalopatía epiléptica edad-dependiente caracterizada por la presencia de estatus epiléptico durante el sueño profundo, con repercusiones cognitiva-conductuales importantes. También se le conoce como síndrome de Penelope. El síndrome de Landau-Kleffner (o espectro epilepsia-afasia) es un subtipo de esta enfermedad, en …
Consanguinity
Consanguinity is the degree of blood relationship between two people (kinship). There are various degrees of consanguinity. It is a risk factor for genetic diseases, particularly autosomal recessive ones (when to suspect a metabolopathy, especially those that have curative treatment?).
Newborn Screening in other countries
Parental age and neurodevelopment.
Neuroplacentology.
Placental disease has consequences on the fetal brain and the newborn, and it is necessary to understand some of the placental pathologies that may be responsible for future neurological problems.