Autism spectrum disorder (ASD) is characterized by multifactorial etiology and high heritability but can be challenging to be diagnosed, especially in cases presenting subthreshold symptoms with no cognitive or language impairment, which may not be identified until adulthood but may occur in family members of subjects with ASD. This study explores the possible correlation between a genomic imbalance and clinical phenotypes in a family case of a proband with ASD, with subjects presenting full-blown or subthreshold ASD and/or mood disorders. Clinical assessments were carried out by means of the Structured Clinical Interview for DSM-5 (SCID-5) disorders, Autism Spectrum Quotient (AQ), Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule Module 2 (ADOS-2), and Adult Autism Subthreshold Spectrum (AdAS Spectrum). The genetic evaluation included array comparative genomic hybridization (array-CGH). The proband was diagnosed with ASD and bipolar disorder type I (BD-I), her twin brothers with ASD and intellectual disability (ID), and her father and sister with BD type II (BD-II) and autism traits. The proband, her father, twin brothers, and older sister showed a microduplication of 350 kb in 20q11.21. In contrast, the proband's mother did not present the microduplication or any mental disorder. This study reports a microduplication that segregates with family members affected by ASD or autistic traits comorbid in some cases with bipolar disorder, and that has never been reported in healthy subjects. Among the genes harbored in this region, the gene has been recently implicated in risk for ASD.
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http://dx.doi.org/10.3389/fpsyt.2023.1240663 | DOI Listing |
Augment Altern Commun
December 2024
Department of Special Education, College of Education, King Saud University, Riyadh, Saudi Arabia.
Request training can produce highly repetitive requests unless the setting is organized to encourage request diversity, particularly for individuals who depend on speech-generating devices (SGDs). Previous studies have shown that request training utilizing a lag schedule and progressive-time delay led to an increase in variability among children diagnosed with autism spectrum disorder (ASD). The impact of lag schedules on augmented requesting remains to be seen.
View Article and Find Full Text PDFPsychol Res
December 2024
Department of Psychology, University of Almería, Almería, Spain.
Previous research highlights impairments in the recognition of facial expression of emotion in individuals diagnosed with Autism Spectrum Disorder (ASD). Relatives of people with ASD may exhibit similar, albeit subtler, impairments, referred to as the Broad Autism Phenotype (BAP). Recently, the Differential outcomes procedure (DOP) has been shown to enhance this ability in young adults using dynamic stimuli, with fewer intensity levels required to identify fear and surprise.
View Article and Find Full Text PDFJ Neuroeng Rehabil
December 2024
Section of Physiology, Laboratory of Neuro-Biomechanics, Department of Biomedical and Biotechnological Sciences, School of Medicine, University of Catania, 95123, Catania, Italy.
Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder, characterized by impairments in social interaction and communication with restricted and repetitive behavior. Postural and motor disturbances occur more often in ASD, in comparison to typically developing subjects, affecting the quality of life. Linear and non-linear indexes derived from the trajectory of the center of pressure (COP) while subjects stand on force platforms are commonly used to assess postural stability.
View Article and Find Full Text PDFBMC Psychiatry
December 2024
Suzhou Guangji Hospital, Suzhou, Jiangsu Province, Affiliated Guangji Hospital of Soochow University, Suzhou, 215137, Jiangsu Province, China.
Background: In observational studies, frailty has been strongly associated with mental disorders. However, the mechanisms underlying the association between frailty and mental disorders remain unclear.
Methods: We conducted a two-sample Mendelian randomization (MR) study to assess the causal relationship between frailty, as measured by the frailty index (FI), and ten common mental disorders.
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