Category archives: Clinical guide
ASD. Should I refer to USMIA or neuropediatrics?. Similar but not the same.
There is a lot of confusion about the referral indication in the case of autism spectrum disorder, as the role each professional plays (USMIA and neuropediatrics) is not well known.
Pica in neurodevelopmental disorders.
Analysis protocol: Stool culture and parasites. Complete blood count and biochemistry with iron metabolism and zinc. Serology of extraintestinal parasites (especially toxocariasis, if there is geophagia*).
Inheritance patterns.
Mendelian: Autosomal dominant. Autosomal recessive. X-linked. Non-mendelian: Imprinting. Mosaicism. Dynamic mutations (Short tandem repeats).
Follow-up of the biological high-risk newborn.
Health program for the late preterm (32-36 GW).
X-linked inheritance with female susceptibility.
In X-linked inheritance, it has classically been considered that the transmission pattern occurs from carrier females to affected males, and that therefore, a carrier female would have a 50% probability of conceiving affected males and a 50% probability of conceiving carrier females. However, this assumption is only met in …
Continue reading «Herencia ligada al X con susceptibilidad femenina.»
Neurodevelopmental assessment.
By neurodevelopment we mean the process of acquiring skills and abilities carried out by the central nervous system throughout childhood. It is a hierarchical, sequential and stereotyped process, genetically encoded but modulated by the environment. We can classify neurodevelopment into different domains, depending on the skills that are ...
Diseases do not diagnosticables by sequencing.
Limitations of exome sequencing:
Protocol for reevaluation and reclassification of variants of uncertain significance (VUS).
The results of a genetic study are not definitive, and in the case of variants of uncertain significance, it is necessary to continue investigations to clarify their meaning.