This study aimed to identify profiles of autistic youths' sibling relations and examined if social-ecological variables (i.e., youth characteristics, family and caregiver functioning, peer relations, Show more
This study aimed to identify profiles of autistic youths' sibling relations and examined if social-ecological variables (i.e., youth characteristics, family and caregiver functioning, peer relations, academic performance) were associated with these profiles. Caregivers (N = 2,142; 88.1% mothers) of autistic youths aged 6-17 years (M = 11.07 years; SD = 3.17; 80.1% male) completed electronic measures assessing social-ecological variables and youths' sibling relations. We used a latent profile analysis (LPA) to define sibling relation profiles based on the qualities (emotional support, companionship, conflict, and criticism) of relations between autistic youths and their closest-in-age siblings. We performed ANOVAs to compare sibling profiles on social-ecological variables. The LPA yielded a 3-profile solution: a positive group (18.2%), a negative group (17.2%), and a low engagement group (64.5%). ANOVAs and χ Most sibling relations among autistic youth fit a low engagement profile based on caregiver report. Positive sibling relations were linked with positive functioning in other social-ecological domains. The nature of these linkages warrants further investigation, particularly using longitudinal, multi-informant, and mixed-method designs. Show less
Alok S Shah, Sara L Farmen, Thomas O Moninger+9 more · 2008 · Proceedings of the National Academy of Sciences of the United States of America · National Academy of Sciences · added 2026-04-24
Mutations in a group of genes that contribute to ciliary function cause Bardet-Biedl syndrome (BBS). Most studies of BBS have focused on primary, sensory cilia. Here, we asked whether loss of BBS prot Show more
Mutations in a group of genes that contribute to ciliary function cause Bardet-Biedl syndrome (BBS). Most studies of BBS have focused on primary, sensory cilia. Here, we asked whether loss of BBS proteins would also affect motile cilia lining the respiratory tract. We found that BBS genes were expressed in human airway epithelia, and BBS2 and BBS4 localized to cellular structures associated with motile cilia. Although BBS proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia. The most common abnormality was bulges filled with vesicles near the tips of cilia. We discovered this same misshapen appearance in airway cilia from Bbs1, Bbs2, Bbs4, and Bbs6 mutant mice. The structural abnormalities were accompanied by functional defects; ciliary beat frequency was reduced in Bbs mutant mice. Previous reports suggested BBS might increase the incidence of asthma. However, compared with wild-type controls, neither airway hyperresponsiveness nor inflammation increased in Bbs2(-/-) or Bbs4(-/-) mice immunized with ovalbumin. Instead, these animals were partially protected from airway hyperresponsiveness. These results emphasize the role of BBS proteins in both the structure and function of motile cilia. They also invite additional scrutiny of motile cilia dysfunction in patients with this disease. Show less