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: The role of vision in speech representation was investigated in congenitally blind speakers and sighted speakers by studying the correlates of contrastive focus, a prosodic condition in which phonemic contrasts are enhanced. It has been reported that the lips (visible articulators) are less involved in implementing the rounding feature…

This study examined the effects of a 20-week intervention to foster affective involvement during interaction and communication between an adult with congenital deafblindness (CDB) and his caregivers in a group home and a daytime activities center. Using a single-subject design, we examined whether the intervention increased affective involvement…

There are many reports that identify the communication of persons with deafblindness. These reports are descriptive in nature, highlighting comprehension, gesture development, communication actions (that is, forms) and purposes (that is, functions), and the collection of verbal skills. This report extends the literature with an in-depth…

Background: The 22q11.2 deletion syndrome (22q11DS; velo-cardio-facial syndrome) is associated with an increased risk of various disorders, including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). With this study, we aimed to investigate the relation between intellectual functioning and severity of ASD and ADHD…

A cross-sectional analysis was used to examine age-related differences in ASD symptoms and corresponding differences in disruptive behavior and social skills in 281 adult men with fragile X syndrome. Four age groups were created: 18-21, 22-29, 30-39, and 40-49 years. The 18-21 year-old group was reported to have more impairments in verbal…

The challenges of social inclusion and access to the curriculum facing students with visual impairment in schools are well documented. The refreshed UK Vision Strategy (2013) seeks to improve education for students with vision impairment. In order to do this, it is important to understand how students with visual impairment experience education.…

Velocardiofacial syndrome (VCFS), the most common microdeletion syndrome, is increasingly diagnosed in young children because of advances in diagnostic testing. The result is an increase in the number of young children with VCFS referred for early intervention (EI) services. We describe early development of children with VCFS and strategies to…

Sleep EEG alterations are emerging features of several developmental disabilities, but detailed quantitative EEG data on the sleep phenotype of patients with Williams syndrome (WS, 7q11.23 microdeletion) is still lacking. Based on laboratory (Study I) and home sleep records (Study II) here we report WS-related features of the patterns of…

Holistic processing of upright, but not inverted, faces is a marker of perceptual expertise for faces. This pattern is shown by typically developing individuals beginning at age 7 months. Williams syndrome (WS) is a rare neurogenetic developmental disorder characterized by extreme interest in faces from a very young age. Research on the effects of…

Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

The peroxisome biogenesis disorders (PBD) are a heterogeneous group of autosomal recessive disorders in which peroxisome assembly is impaired, leading to multiple peroxisome enzyme deficiencies, complex developmental sequelae and progressive disabilities. Mammalian peroxisome assembly involves the protein products of 16 "PEX" genes;…

Research on joint attention and language learning has focused primarily on cues requiring visual access. However, this narrow focus cannot account for the emergence of language among some congenitally blind children who develop language on the same developmental timescale as their sighted peers. Findings from this longitudinal, retrospective study…

Introduction: In this study, we applied the Intervention Model for Affective Involvement (IMAI) to four participants who are congenitally deafblind and their 16 communication partners in 3 different settings (school, a daytime activities center, and a group home). We examined whether the intervention increased affective involvement between the…

Purpose: This research explored whether sustained maternal responsivity (a parent-child interaction style characterized by warmth, nurturance, and stability as well as specific behaviors, such as contingent positive responses to child initiations) was a significant variable predicting vocabulary development of children with fragile X syndrome…