Abstract Purpose of Review Elevated prevalence of autism characteristics is reported in
genetic syndromes associated with intellectual disability. This review summarises recent …

RagGTPases (Rags) play an essential role in the regulation of cell metabolism by controlling
the activities of both mechanistic target of rapamycin complex 1 (mTORC1) and …

Purpose Genetic studies in sudden infant death syndrome (SIDS) and sudden unexplained
death (SUD) cohorts have indicated that cardiovascular diseases might have contributed to …

The article presents a review of the relationships between melatonin and
neurodevelopmental disorders. First, the antioxidant properties of melatonin and its …

Syndromic obesity refers to obesity occurring with additional clinical findings, such as
intellectual disability/developmental delay, dysmorphic features, and congenital …

Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder
caused by a 17p11. 2 deletion or pathogenic variant in the RAI1 gene. SMS is associated …

Perceptual and statistical evidence has highlighted voice characteristics of individuals
affected by genetic syndromes that differ from those of normophonic subjects. In this paper …

Aspartate–glutamate carrier isoform 1 (AGC1) is a carrier responsible for the export of
mitochondrial aspartate in exchange for cytosolic glutamate and is part of the malate …

Los trastornos del sueño son altamente prevalentes en la población pediátrica con
trastornos del neurodesarrollo, con consecuencias relevantes en el paciente y su familia. En …

Smith–Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual
disability (ID), behavioral impairments, and sleep disturbances, as well as multiple organ …