@article {2188, title = {Discovery of genomic loci of the human cerebral cortex using genetically informed brain atlases.}, journal = {Science}, volume = {375}, year = {2022}, month = {2022 02 04}, pages = {522-528}, abstract = {

To determine the impact of genetic variants on the brain, we used genetically informed brain atlases in genome-wide association studies of regional cortical surface area and thickness in 39,898 adults and 9136 children. We uncovered 440 genome-wide significant loci in the discovery cohort and 800 from a post hoc combined meta-analysis. Loci in adulthood were largely captured in childhood, showing signatures of negative selection, and were linked to early neurodevelopment and pathways associated with neuropsychiatric risk. Opposing gradations of decreased surface area and increased thickness were associated with common inversion polymorphisms. Inferior frontal regions, encompassing Broca{\textquoteright}s area, which is important for speech, were enriched for human-specific genomic elements. Thus, a mixed genetic landscape of conserved and human-specific features is concordant with brain hierarchy and morphogenetic gradients.

}, keywords = {Adult, Aged, Aged, 80 and over, Cerebral Cortex, Child, Chromatin, Cohort Studies, Female, Gene Ontology, Genetic Association Studies, Genetic Loci, Genetic Variation, Genome, Human, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Male, Mental Disorders, Middle Aged, Molecular Sequence Annotation, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Regulatory Sequences, Nucleic Acid}, issn = {1095-9203}, doi = {10.1126/science.abe8457}, author = {Makowski, Carolina and van der Meer, Dennis and Dong, Weixiu and Wang, Hao and Wu, Yan and Zou, Jingjing and Liu, Cin and Rosenthal, Sara B and Hagler, Donald J and Fan, Chun Chieh and Kremen, William S and Andreassen, Ole A and Jernigan, Terry L and Dale, Anders M and Zhang, Kun and Visscher, Peter M and Yang, Jian and Chen, Chi-Hua} } @article {181, title = {Atypical social referencing in infant siblings of children with autism spectrum disorders.}, journal = {J Autism Dev Disord}, volume = {42}, year = {2012}, month = {2012 Dec}, pages = {2611-21}, abstract = {

Social referencing was investigated in 18-month-old siblings of children with autism spectrum disorders (ASD; "high-risk infants"). Infants were exposed to novel toys, which were emotionally tagged via adults{\textquoteright} facial and vocal signals. Infants{\textquoteright} information seeking (initiation of joint attention with an adult) and their approach/withdrawal behavior toward the toys before versus after the adults{\textquoteright} emotional signals was measured. Compared to both typically developing infants and high-risk infants without ASD, infants later diagnosed with ASD engaged in slower information seeking, suggesting that this aspect of referencing may be an early indicator of ASD. High-risk infants, both those who were and those who were not later diagnosed with ASD, exhibited impairments in regulating their behavior based on the adults{\textquoteright} emotional signals, suggesting that this aspect of social referencing may reflect an endophenotype for ASD.

}, keywords = {Attention, Child, Child Development, Child Development Disorders, Pervasive, Child, Preschool, Emotions, Endophenotypes, Female, Humans, Infant, Infant Behavior, Male, Risk Factors, Siblings, Social Behavior}, issn = {1573-3432}, doi = {10.1007/s10803-012-1518-8}, author = {Cornew, Lauren and Dobkins, Karen R and Akshoomoff, Natacha and McCleery, Joseph P and Carver, Leslie J} } @article {194, title = {Atypical face versus object processing and hemispheric asymmetries in 10-month-old infants at risk for autism.}, journal = {Biol Psychiatry}, volume = {66}, year = {2009}, month = {2009 Nov 15}, pages = {950-7}, abstract = {

BACKGROUND: Previous studies have documented atypicalities in face/object processing in children and adults with autism spectrum disorders (ASDs). To investigate whether such atypicalities may reflect a genetically mediated risk factor present early in development, we measured face/object processing in 10-month-old high-risk infants who carry some of the genes associated with ASD because they have an older sibling diagnosed with the disorder.

METHODS: We employed event-related potentials (ERPs) to measure cortical responses to pictures of faces and objects, the objects being toys. Latencies and amplitudes of four ERP components (P100, N290, P400, and Nc) were compared between 20 high-risk infants and 20 low-risk control subjects (infants with no family history of ASD).

RESULTS: Responses to faces versus objects differed between high- and low-risk infants for the latencies of the N290 and P400. Differences were driven by faster responses to faces than objects in low-risk, but not high-risk, infants (P400) and, conversely, faster responses to objects than faces in high-risk, but not low-risk, infants (N290). Object responses were also faster in high-risk than low-risk infants (both N290 and P400). Left versus right hemisphere responses also differed between high- and low-risk infants for the amplitudes of the P100, N290, and P400; collapsed across faces/objects, low-risk, but not high-risk, infants exhibited hemisphere asymmetries.

CONCLUSIONS: Genetic risk for ASD is associated with atypical face versus object processing and an atypical lack of hemispheric asymmetry early in life. These atypicalities might contribute to development of the disorder.

}, keywords = {Analysis of Variance, Autistic Disorder, Brain, Brain Mapping, Cerebral Cortex, Child, Child, Preschool, Electroencephalography, Evoked Potentials, Face, Female, Fourier Analysis, Functional Laterality, Humans, Infant, Male, Neuropsychological Tests, Pattern Recognition, Visual, Photic Stimulation, Reaction Time, Risk}, issn = {1873-2402}, doi = {10.1016/j.biopsych.2009.07.031}, author = {McCleery, Joseph P and Akshoomoff, Natacha and Dobkins, Karen R and Carver, Leslie J} }