Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and…

Background: Despite work on the self-identities of people with intellectual disabilities, research has yet to describe the self-perceptions of people with Prader-Willi syndrome (PWS). The perspectives of those with PWS are also important for rapidly evolving clinical trials aimed at treating symptoms of PWS. Method: Twenty-one young people with…

Autism spectrum disorder is a neurodevelopmental disorder in which genetic factors play key roles. Limited research has been conducted on genetic testing of children with autism spectrum disorder in low middle-income countries. This prospective cross-sectional study was conducted at the pediatric neurology clinics of three university hospitals in…

Objective: This study aimed to assess the quality and readability of web-based information on familial hypercholesterolaemia. Design, setting and methods: Internet searches using the terms 'familial hypercholesterolemia', 'hypercholesterolemia', 'inherited high cholesterol', 'hereditary high cholesterol' and 'inherited high LDL' were conducted…

The objective of this study was to assess the correlation of the Per3 gene VNTR polymorphism to insomnia patients in Bermuda. Buccal swabs were taken, and DNA was extracted, after which the genotypes of volunteers were characterised by using polymerase chain reaction. There were 25 total volunteers (21 females, 4 males, aged 20-79) that…

Albinism is typically misunderstood, resulting in myths and misconceptions about the condition in different parts of the world. This study explores the misconceptions about albinism in Ghana through the lens of lived experiences of persons living with albinism (PLWA) and other relevant stakeholders to ascertain the level of socio-cultural…

3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were…

Congenital adrenal hyperplasia (CAH) encompasses a range of autosomal recessive inherited enzyme deficiencies that impact cortisol biosynthesis pathways. Although reported as a rare and lifelong disorder, it holds chronic health risks for individuals that can influence menstruation. The purpose of this environmental scan and integrative literature…

Motor skills, an important foundation for language and communication, are considerably delayed in children with Down syndrome (DS) and fragile X syndrome (FXS). However, the impact of these impairments on expressive and receptive communication and the phenotypic specificity of these associations remains unknown. Participants included 37 with DS…

To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT)--a naturalistic social cognition task--and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared…

Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a rare genetic disorder affecting at least 2,000 people worldwide (Phelan-McDermid Syndrome Foundation, 2019, How rare is Phelan-McDermid?). PMS has many distinguishing characteristics and many medical specialties have been recommended to treat the clinical features. While…

We examined potential phenotypic differences in eye gaze avoidance exhibited by boys with autism spectrum disorder (ASD) and boys with fragile X syndrome (FXS). In Study 1, the Eye Contact Avoidance Scale (ECAS) was administered to caregivers of boys aged 7-18 years with FXS (n = 148), ASD (n = 168), and mixed developmental disabilities (MDD; n =…

The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the…

Persons with rare, epilepsy-related disorders often have intellectual disability and need long-term care. Informal and formal caregivers need information in order to care for the persons in a safe way. Aims: The aims of this review were: (1) to obtain an overview of caregiver-reported information needs; and (2) to investigate if there are…

Empirical evidence suggests a phonological loop deficit associated with Down syndrome. A trisomy 21 may be associated with a narrowing of visual attention to fewer than four objects at a time too. In a study with computer tachistoscopy, the hypothesis was confirmed in all 194 persons with trisomy 21. The subitising limit of persons with trisomy 21…