The relationship between the broader autism phenotype, child severity, and stress and depression in parents of children with autism spectrum disorders

2011 ◽  
Vol 5 (1) ◽  
pp. 337-344 ◽  
Author(s):  
Brooke Ingersoll ◽  
David Z. Hambrick
2013 ◽  
Vol 18 (3) ◽  
pp. 672-680 ◽  
Author(s):  
Janet E. Farmer ◽  
Mary J. Clark ◽  
Wayne A. Mayfield ◽  
Nancy Cheak-Zamora ◽  
Alison R. Marvin ◽  
...  

2020 ◽  
Vol 21 (21) ◽  
pp. 7965
Author(s):  
Krysta J. Trevis ◽  
Natasha J. Brown ◽  
Cherie C. Green ◽  
Paul J. Lockhart ◽  
Tarishi Desai ◽  
...  

Families comprising many individuals with Autism Spectrum Disorders (ASD) may carry a dominant predisposing mutation. We implemented rigorous phenotyping of the “Broader Autism Phenotype” (BAP) in large multiplex ASD families using a novel endophenotype approach for the identification and characterisation of distinct BAP endophenotypes. We evaluated ASD/BAP features using standardised tests and a semi-structured interview to assess social, intellectual, executive and adaptive functioning in 110 individuals, including two large multiplex families (Family A: 30; Family B: 35) and an independent sample of small families (n = 45). Our protocol identified four distinct psychological endophenotypes of the BAP that were evident across these independent samples, and showed high sensitivity (97%) and specificity (82%) for individuals classified with the BAP. Patterns of inheritance of identified endophenotypes varied between the two large multiplex families, supporting their utility for identifying genes in ASD.


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