The block design task (BDT) is a visuospatial measure that individuals with Williams syndrome (WS) perform poorly on. However, it is unclear what underlies their impaired performance. This study investigated whether poorer performance is a result of visuospatial difficulties, executive function (EF) difficulties, atypical looking strategies, or a…

Diminished response to name, a potential early marker of autism spectrum disorder (ASD), may also indicate risk for other disorders characterized by attention problems, including attention-deficit/hyperactivity disorder (ADHD). Using a familial risk design, we examined whether response to name ability at 6, 12, 18, 24, and 36 months of age…

Although few studies have established significant associations between cancer risk perception and smoking status, the evidence remains inconclusive. Therefore, the current study aimed to examine the association between risk perception for developing cancer and smoking status, controlling for sociodemographic factors. Data from the National Cancer…

Phenotypic elements of autism spectrum disorder can be masked by attention-deficit/hyperactivity disorder symptoms, potentially leading to a misdiagnosis or delaying an autism spectrum disorder diagnosis. This study explored differences in the age of autism spectrum disorder diagnosis between participants with previously diagnosed…

Age-related behavioural change in Cornelia de Lange syndrome is poorly understood. We report a 7 year follow-up study of adaptive behaviour, autism spectrum disorder symptomatology, language skills and behavioural characteristics in 30 individuals with Cornelia de Lange syndrome, compared with 18 individuals with Cri du Chat syndrome. The…

Outstanding skills, including special isolated skills (SIS) and perceptual peaks (PP) are frequent features of autism. However, their reported prevalence varies between studies and their co-occurrence is unknown. We determined the prevalence of SIS in a large group of 254 autistic individuals and searched for PP in 46 of these autistic individuals…

Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual disability; Down syndrome, Rett syndrome and the CDKL5 disorder. Data were sourced from the Western Australian Down Syndrome (n = 291), Australian Rett Syndrome (n…

Purpose: This study was to investigate whether there is an age dependent effect on the association between ADIPPOR1 SNP and hypertriglyceridemia for each gender. Materials and Methods: 116 individuals aged 20 and above who claimed to be healthy were enrolled and grouped into male and female populations. Blood samples were taken to determine…

Studying anxiety in neurogenetic syndromes may inform the intersection of biological and developmental risks, facilitating effective and targeted interventions. We longitudinally examined stranger fear in infants and toddlers with fragile X syndrome (FXS; n = 46) and typical controls (n = 33), as well as associations between observed stranger fear…

Background: People with Prader-Willi syndrome (PWS) typically have mild to moderate intellectual deficits, compulsivity, hyperphagia, obesity, and growth hormone deficiencies. Growth hormone treatment (GHT) in PWS has well-established salutatory effects on linear growth and body composition, yet cognitive benefits of GHT, seen in other patient…

Although males with fragile X syndrome (FXS) are frequently described as demonstrating autism symptomatology, there is much debate regarding whether the behavioral symptoms representing the core domains of autism are the result of the same or different underlying neurological/psychological mechanisms. The present study used a cross-sectional…

Research Findings: Evolution by natural selection is often relegated to the high school curriculum on the assumption that younger students cannot grasp its complexity. We sought to test that assumption by teaching children ages 4-12 (n = 96) a selection-based explanation for biological adaptation and comparing their success to that of adults…

Background: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. Aim: The aim of the present study was to investigate whether…

All numerate humans have access to two systems of number representation: an exact system that is argued to be based on language and that supports formal mathematics, and an Approximate Number System (ANS) that is present at birth and appears independent of language. Here we examine the interaction between these two systems by comparing the…

Purpose: This study examined use of a speaker's direction of gaze during word learning by boys with fragile X syndrome (FXS), boys with nonsyndromic autism spectrum disorder (ASD), and typically developing (TD) boys. Method: A fast-mapping task with follow-in and discrepant labeling conditions was administered. We expected that the use of speaker…