The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

In order to add to the knowledge on adult phenotypes of metabolic disorders associated with intellectual disability (ID) and to evaluate criteria for recommending metabolic testing of adolescents and adults with unexplained ID, the authors analyzed retrospectively the outcome of metabolic investigations performed during a 10-year period on 256…

Breast-cancer survival rates are lower among African American women compared to White women. Obesity may contribute to this disparity. More than 77% of African American women are overweight or obese. Adopting health behaviors that promote a healthy weight status may be beneficial because obesity increases risk for recurrence. Studies among White…

Reviews selected papers on fragile X syndrome, a chromosomal anomaly involving a fragile site on the terminal region of the long arm of the X chromosome. Prevalence, recurrence risks, associated developmental disorders, diagnostic screening, and treatment are discussed. (Author/BN)

Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

An understanding of the genetic concepts applicable to individual cases of deafness, as well as an appreciation of the complex nature of determinaton of recurrence risks in families, will facilitate the referral of individuals and families for genetic evaluation and counseling. (Author)

Research in the genetics of behavioral traits, undertaken by family studies, twin studies, and adoption studies, has revealed information on normal variation in cognitive abilities as well as specific learning disabilities (primarily dyslexia). Genetic evaluation of learning disabled students have implications for counseling and recurrence risk…

Negative cognitive structure (particularly for interpersonal content) has been shown in some research to persist past a current episode of depression and potentially to be a stable marker of vulnerability for depression (D. J. A. Dozois, 2007; D. J. A. Dozois & K. S. Dobson, 2001a). Given that cognitive therapy (CT) is highly effective for…

Background: This study is part of a larger UK-wide study investigating psychiatric illness in people with Prader-Willi syndrome (PWS), and describes the longitudinal aspect of psychiatric illness, in particular psychotic illness, and examines the use and role of psychotropic medication. Method: A total of 119 individuals with genetically confirmed…

The Cox proportional hazards model has been pervasively used in many social science areas to examine the effects of covariates on timing to an event. The standard Cox model is intended to study univariate survival data where there is a singular event of interest, which can only be experienced once. However, we may additionally wish to explore a…

Depression doubles the likelihood of comorbid depression, which presents as major depression in 11% and subsyndromal depression in 31% of patients with the medical illness. The course of depression is chronic, and afflicted patients suffer an average of one episode annually. Depression has unique importance in diabetes because of its association…

Objective: The purpose of this study was to (a) describe the timing of maltreatment recurrence and (b) measure associations between child demographics and characteristics of initial reports with recurrent maltreatment. Method: Using administrative data from the Florida Department of Children and Families, case histories of 189,375 children with an…

In this issue of "Autism," new evidence for the equivalency of symptom burden and structure among males and females affected by autism spectrum disorder (ASD) continues to move the spotlight from a notion that the sex ratio in ASD results from the condition being somehow different between the sexes, to the more likely scenario that males…

Taking fear as the core emotion in the experience of major disasters and echoing French historian Jean Delumeau's classic thesis on the social and cultural construction of coping strategies against it, this article outlines some lessons and prospects from the (complex but also distinctive) regime of experiences and behaviours historically…

Efficient visual exploration in infancy is essential for cognitive and language development. It allows infants to participate in social interactions by attending to faces and learning about objects of interest. Visual scanning of scenes depends on a number of factors, and early differences in efficiency are likely contributing to differences in…