Variable expression of the autism broader phenotype: Findings from extended pedigrees

Pickles, A
Starr, E
Kazak Berument, Sibel
Bolton, P
Papanikolaou, K
Bailey, A
Goodman, R
Rutter, M
Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed.


KENCE, M; Kence, Aykut (1992-10-01)
The pattern of inheritance of genes conferring resistance to malathion and genetic consequences of linkage between an autosomal male-determining factor and resistance genes on the second chromosome were investigated in a strain of house fly, Musca domestica L., selected for malathion resistance. The second and fifth chromosomes contribute significantly to malathion resistance. The presence of a male-determining factor linked with the resistance genes on the second chromosome resulted in a strong sexual dimo...
Evaluation of Whole Genome Association Study Data in Bipolar Disorders: Potential Novel SNPs and Genes
CENGİZ HAN, Açıkel; Aydın Son, Yeşim; ÇELİK, Cemil; RECEP, Tütüncü (2015-03-01)
Objective: As a result of studies of multifactorial conditions, genetic, physiological and environmental factors, the overall heritability of bipolar disorders has been estimated to be up to 70%. In this study, an analysis of genome-wide association study data using data mining algorithms has revealed single-nucleotide polymorphisms that may be the basis for the molecular etiology of bipolar disorders.
Brief report: Autism in individuals with Down syndrome
Starr, EM; Kazak Berument, Sibel; Tomlins, M; Papanikolaou, K; Rutter, M (Springer Science and Business Media LLC, 2005-10-01)
As an off-shoot of a study examining the reliability and validity of an adapted version of the Pre-Linguistic Autism Diagnostic Observation Schedule (A-PL-ADOS), 13 individuals with Down syndrome with IQs ranging between 24 and 48 were administered the Autism Diagnostic Interview-Revised (ADI-R) and the A-PL-ADOS, which are well-validated interview and observational diagnostic measures. Three out of 13 met lifetime criteria on the ADI-R, but none of these three showed behavior that met the criterion for aut...
Prevalence of traumatic events and determinants of posttraumatic growth in university students
Arıkan, Gizem; Karancı, Ayşe Nuray; Department of Psychology (2007)
This study aims to examine the prevalence of traumatic events among university students and to evaluate the predictive values of socio-demographic variables, trauma characteristics, attachment styles and coping styles in posttraumatic growth. 321 students from the Middle East Technical University and Hacettepe University participated in the study. A trauma checklist, Posttraumatic Growth Inventory, Relationship Scales Questionnaire, Attachment Style Questionnaire and Ways of Coping Inventory were administer...
Predictive values of social support,coping styles and stress level in posttraumatic growth and burnout levels among the parents of children with autism
Elçi, Özcan; Karancı, Ayşe Nuray; Department of Psychology (2004)
The purpose of the present study was to examine the predictive power of some demographic variables and ways of coping, social support and perceived stress level in predicting burnout and posttraumatic growth levels of parents who have a child with autism. Data was collected by administering a socio-demographic form and four self-report questionnaires. These were the Questionnaire on Resources and Stress Short Form (QRS), Posttraumatic Growth Inventory (PTGI), Multidimensional Scale of Perceived Social Suppo...
Citation Formats
A. Pickles et al., “Variable expression of the autism broader phenotype: Findings from extended pedigrees,” JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES, pp. 491–502, 2000, Accessed: 00, 2020. [Online]. Available: