Endophenotypes are neurobiological markers cosegregating and associated with illness. These biomarkers represent a promising strategy to dissect ADHD biological causes. This study was aimed at contrasting the genetics of neuropsychological tasks for intelligence, attention, memory, visual-motor skills, and executive function in children from multigenerational and extended pedigrees that cluster ADHD in a genetic isolate. In a sample of 288 children and adolescents, 194 (67.4%) ADHD affected and 94 (32.6%) unaffected, a battery of neuropsychological tests was utilized to assess the association between genetic transmission and the ADHD phenotype. We found significant differences between affected and unaffected children in the WISC block design, PIQ and FSIQ, continuous vigilance, and visual-motor skills, and these variables exhibited a significant heritability. Given the association between these neuropsychological variables and ADHD, and also the high genetic component underlying their transmission in the studied pedigrees, we suggest that these variables be considered as potential cognitive endophenotypes suitable as quantitative trait loci (QTLs) in future studies of linkage and association.

INTRODUCCIÓN El trastorno específico del desarrollo del lenguaje (TEDL) se ha descrito con mayor rigor en los últimos 10 años. Autores como Bishop [1], Leonard [2], Narbona [3], Rapin [4], Allen [4] y Comti-Rasden [5] han contribuido de forma importante a la comprensión del tema y a su definición, así como a su clasificación para fines de agrupamiento, partiendo del análisis clínico de los síntomas.

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The PSEN1-E280A or Paisa mutation is responsible for most of Early-Onset Alzheimer's (EOA) disease cases in Colombia. It affects a large kindred of over 5000 members that present the same phenotype. The most common symptoms are related to language disorders, where speech fluency is also affected due to the difficulty to access semantic information intentionally. This study proposes the use of acoustic and linguistic methods to extract features from speech recordings and their transcriptions to discriminate people with conditions related to the Paisa mutation. We consider state-of-the-art word-embedding methods like Word2Vec and Bidirectional Encoder Representations from Transformer to process the transcripts. The speech signals are modeled by using traditional acoustic features and speaker embeddings. To the best of our knowledge, this is the first study focused on evaluating genetic Alzheimer's and EOA using acoustics and linguistics.

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