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.
Category archives: Clinical guide
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.
{332710:GSPGSS3E};{332710:HSPJSS3A};{332710:7QAVS6AS}
Spliceopathies.
Embedded from Autism spectrum disorder.
CSWS
Continuous spike-wave during sleep is an age-dependent epileptic encephalopathy characterized by the presence of status epilepticus during deep sleep, and significant cognitive-behavioral consequences. It is also known as Penelope syndrome. Landau-Kleffner syndrome (or epilepsy-aphasia spectrum) is a subtype of this disease, in which the neurological deficit is …
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.
Neuropediatric clinical history (template).
PERINATAL HISTORY: Child of a father of — and mother of — years. G-A0P-. Controlled pregnancy with normal ultrasounds and negative serologies. No illnesses during pregnancy. No medication or toxic substances during pregnancy. Delivery —. Term newborn of — weeks GA. Birth weight –g (z=). Birth length –cm (z=). Birth HC –cm (z=). …
Continue reading «Historia clínica neuropediátrica (plantilla).»