Thirty-three children treated for congenital hyperinsulinism (CHI) (13 boys; 13 with focal forms of CHI, median age 10 months) entered the study. The mothers were requested to fill-in the Ages and Stages Questionnaire to estimate communication, gross motor, fine motor, problem solving and personal-social skills. Children with focal forms had…

To describe and analyze the changes in anthropometric parameters in children with congenital Zika syndrome (CZS) from birth to four years of age. This prospective study evaluated 117 children diagnosed with CZS. Anthropometric indices evaluated annually were classified with respect to presence of microcephaly and adequacy of weight-for-age,…

A presumed setback in development between 16 and 27 months of age was studied by reviewing the literature on setback in development and longitudinal studies of children with blindness or visual impairment. The results showed that the period around the second year of life is a vulnerable period for these children, in which about 25-33% of the…

There is limited research on the trajectory of restricted and repetitive behaviors (RRBs) in fragile X syndrome (FXS), with previous studies only examining males and/or examining RRBs as a unitary construct rather than delineating subtypes of RRBs. Thus, we described the trajectory of five subtypes of RRBs in 153 males and females with FXS (aged…

Associative word learning, i.e., associating a word with an object, is an important building block of early word learning for TD infants. This study investigated the development of word-I object associations by TD infants and infants and toddlers with Williams syndrome (WS), a rare genetic disorder associated with delayed language and cognitive…

Purpose: Past research shows that parentally responsive behavior toward the child positively influences language development in both neurotypical children and children with intellectual and developmental disabilities, including those with fragile X syndrome (FXS); however, most studies have focused exclusively on the mother--child relationship.…

Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental…

Effortful control, or the ability to suppress a dominant response to perform a subdominant response, is an early-emerging temperament trait that is linked with positive social-emotional development. Fragile X syndrome (FXS) is a single-gene disorder characterized by hallmark regulatory impairments, suggesting diminished effortful control. This…

Purpose: Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health…

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…

Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn…

Experience engenders learning, but not all learning involves representational change. In this paper, we provide a dramatic case study of the distinction between learning and representational change. Specifically, we examined long- and short-term changes in representations of numeric magnitudes by asking individuals with Williams syndrome (WS) and…

The current study investigated whether contrasting face recognition abilities in autism and Williams syndrome could be explained by different spatial frequency biases over developmental time. Typically-developing children and groups with Williams syndrome and autism were asked to recognise faces in which low, middle and high spatial frequency…

Basic attentional processes and their impact on developmental trajectories in fragile X syndrome were assessed in a 3-year prospective study. Although fragile X syndrome is a monogenic X-linked disorder, there is striking variability in outcomes even in young boys with the condition. Attention is a key factor constraining interactions with the…

Background: Children with cleft lip and palate are at risk for psychological problems. Difficulties in mother-child interactions may be relevant, and could be affected by the timing of lip repair. Method: We assessed cognitive development, behaviour problems, and attachment in 94 infants with cleft lip (with and without cleft palate) and 96…