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Category archives: Neurodevelopmental disorders
CdL facial phenotypes.
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,…
Angelman-like syndrome.
Do animals have autism?
The diagnosis of autism is based on the presence of 2 dimensions of symptoms: Rómulo is the oldest male white rhinoceros (Ceratotherium simum) of the four specimens that lived in the park and the most endearing for Valencians, who have been able to see him first in Viveros and later in Bioparc. He was born in 1979 in England. …
Semiology of pediatric movement disorders.
To interpret the semiology of motor disorders, it is necessary to know the hierarchy of control of the motor system.
"De novo" mutations.
In recent years, "de novo" mutations, those not inherited from either parent, have gained special relevance in pediatric neurology, for several reasons:
Developmental disorders of the visual pathway (and optic chiasm).
Oculocutaneous albinism is a genetic disorder that conditions not only a retinopathy, but other alterations in the embryological development of the visual pathway, and therefore of neurodevelopment. The main consequence is a loss of stereopsia. There are other neurodevelopmental disorders that also share characteristics with oculocutaneous albinism, such as the syndrome ...
Continue reading «Trastornos del desarrollo de la via visual (y el quiasma óptico).»
Non-pharmacological treatment of ADHD.
Syndromic neurodevelopmental disorders. Keys to diagnosis.
Warning symptoms of ASD.
Warning Signs and Red Flags of ASD in Childhood Early detection of Autism Spectrum Disorder (ASD) is key to implementing effective early interventions. The following warning signs should be closely monitored: At 6 months: Absence of social smiling, limited facial expression, or lack of constant eye contact. At…