The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…

Purpose: Cluttering is a fluency disorder that has been noted clinically in individuals with fragile X syndrome (FXS). Yet, cluttering has not been systematically characterized in this population, hindering identification and intervention efforts. This study examined the rates of cluttering in male young adults with FXS using expert clinical…

Classroom noise impairs students' cognition and learning. At a first glance, it seems useful to prevent the negative effects of noise on academic learning by wearing noise-cancelling (NC) headphones during class. The literature and guidelines emphasize the academic benefits of wearing NC headphones (decreased auditory distraction, increased…

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of…

The treatment and care of persons with a disability should and must be all encompassing. With the expansion of the knowledge that proper dieting can make a difference in the individual's development and quality of life, attention must be focused on using proper food intake to remediate the negative impact of a disability. Food is related to proper…