Category archives: Clinical guide
PCI: Treatments with scientific evidence.
Neurocristopathies: Embryology and neurodevelopment.
Neuroichthyosis.
CDG roadmap.
https://pubmed.ncbi.nlm.nih.gov/32512173/
Risk factors for ASD.
The main identifiable risk factor in the clinical history is the presence of an older sibling with ASD, such that 1 in 5 children with older siblings with ASD will have an ASD diagnosis by age 3, being more frequent among males. Parental age is also a risk factor …
Cytomegalovirus congenital.
Indications for CMV PCR in urine within the first 2 weeks of life for the diagnosis of congenital CMV.
Criteria of realization of aCGH.
Comparative genomic hybridization array (aCGH) is the first-choice complementary genetic exploration in children with global developmental delay/intellectual disability and/or multiple congenital malformations, according to AAP, AAN, ISCA, and ACMG clinical guidelines. 1. Moeschler JB, Shevell M; Committee on Genetics Comprehensive evaluation of the child with intellectual disability …
Diagnosis comorbid ASD-DI and genetic diagnosis.
Neuro-ophthalmological examination.
Neuro-ophthalmology is a complex field and usually there is no formal training. It sits between several specialties, making it difficult to determine the responsibilities of each professional. On the Neuro-ophthalmology at your fingertips website, there are educational videos on the neuroscience underlying neuro-ophthalmology. On the website of …