A family genetic study of autism associated with profound mental retardation

Starr, E
Kazak Berument, Sibel
Pickles, A
Tomlins, M
Bailey, A
Papanikolaou, K
Rutter, M
We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-IO criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.


Khalaji, Erfan; Yesilada Yilmaz, Yeliz; Eraslan, Sukru; Computer Engineering (2021-7-14)
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder that causes social, communication and behavioral challenges with different severity levels. Studies report a considerable increase in ASD prevalence during the past two decades, and clinical psychologists face difficulties identifying individuals with ASD. Researchers have been using different techniques such as eye-tracking to help address ASD diagnosis. A previous study shows that training a logistic regression model with eye-tr...
A replication study of JTC bias, genetic liability for psychosis and delusional ideation
Henquet, Cécile; et. al. (2022-07-13)
This study attempted to replicate whether a bias in probabilistic reasoning, or 'jumping to conclusions'(JTC) bias is associated with being a sibling of a patient with schizophrenia spectrum disorder; and if so, whether this association is contingent on subthreshold delusional ideation. Methods Data were derived from the EUGEI project, a 25-centre, 15-country effort to study psychosis spectrum disorder. The current analyses included 1261 patients with schizophrenia spectrum disorder, 1282 siblings of patie...
Combining Trending Scan Paths with Arousal to Model Visual Behaviour on the Web: A Case Study of Neurotypical People vs People with Autism
Matthews, Oludamilare; Eraslan, Sukru; Yaneva, Victoria; Davies, Alan; Yesilada, Yeliz; Vigo, Markel; Harper, Simon (2019-01-01)
People with autism often exhibit different visual behaviours from neurotypical users. To explore how these differences are exhibited on the Web, we model visual behaviour by combining pupillary response, which is an unobtrusive measure of physiological arousal, with eye-tracking scan paths that indicate visual attention. We evaluated our approach with two populations: 19 neurotypical users and 19 users with autism. We observe differences in their visual behaviours as, in certain instances, individuals with ...
Can young people with autism refer to knowledge states? Evidence from their understanding of "know" and "guess"
Kazak Berument, Sibel; Lewis, V (1997-11-01)
A number of studies have reported that most individuals with autism have difficulty in attributing mental states. The primary aim of the present study was to compare the ability of children with autism to refer to knowledge states with that of mainstream school children and children with Down's syndrome. The second aim was to investigate the role of verbal mental age in referring to knowledge states. The third aim was to compare the ease with which the children referred to their own mental state and to that...
Replicated evidence that endophenotypic expression of schizophrenia polygenic risk is greater in healthy siblings of patients compared to controls, suggesting gene-environment interaction. The EUGEI study
van Os, Jim; et. al. (Cambridge University Press (CUP), 2020-08-01)
Background First-degree relatives of patients with psychotic disorder have higher levels of polygenic risk (PRS) for schizophrenia and higher levels of intermediate phenotypes. Methods We conducted, using two different samples for discovery (n= 336 controls and 649 siblings of patients with psychotic disorder) and replication (n= 1208 controls and 1106 siblings), an analysis of association between PRS on the one hand and psychopathological and cognitive intermediate phenotypes of schizophrenia on the other ...
Citation Formats
E. Starr et al., “A family genetic study of autism associated with profound mental retardation,” JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, pp. 89–96, 2001, Accessed: 00, 2020. [Online]. Available: https://hdl.handle.net/11511/35747.