Learning cardiac morphology largely involves spatial abilities and studies indicate benefits from innovative 3D visualization technologies that speed up and increase the learning output. Studies comparing these teaching tools and their educational output are rare and few studies include complex congenital heart defects. This study compared the…

Background: Speech in individuals with cleft lip and/or palate (CLP) is a complex myriad of presenting symptoms. It is uniquely associated with the structural difference of velopharyngeal insufficiency (VPI), together with a wide and heterogeneous range of other aetiologies which often co-occur. The nature of the speech sound disorder (SSD)…

Purpose: Cluttering is a fluency disorder that has been noted clinically in individuals with fragile X syndrome (FXS). Yet, cluttering has not been systematically characterized in this population, hindering identification and intervention efforts. This study examined the rates of cluttering in male young adults with FXS using expert clinical…

Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously…

Nowadays, the problem of prevention and correction of various diseases in preschool children has become particularly relevant. This is due, first of all, the presence of a large number of preschoolers (84.9%) with different deviations in the state of health and with pathologies in the development of the musculoskeletal system in particular. The…

Background: Retrospective parental reports have often been used to identify the early characteristics of children later diagnosed with a developmental disorder. Method: We applied this methodology to document 13 parents' initial concerns about the development of their 17 children later diagnosed with fragile X syndrome (FXS). Parents were…

The aim of this retrospective study, with prospective data collection, was to correlate congenital cytomegalovirus (CMV) infection with autism spectrum disorder (ASD) and to define its prevalence. Seventy proven congenitally-infected infants, born between 2007 and 2012, were referred to our centre for CMV diagnosis and follow-up, which consisted…

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;…

Objectives: To describe children with congenital bleeding disorders that present in a manner that may be concerning for non-accidental trauma (NAT), and to evaluate associations with disease and demographic characteristics. Methods: Ten year retrospective charts of subjects were reviewed at a Hemophilia Treatment Center. Demographic, historical,…

This article presents a review of the literature on orofacial clefting in children. The authors review the etiology, prevalence, and variations of clefting as well as issues related to neuropsychological, social, academic, emotional, and behavioral functioning of children with clefts. Finally, the authors discuss the implications for school…

The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

Background: Recently researchers have suggested that non-medical information may impact the decision to continue or terminate a pregnancy after a prenatal diagnosis. This study is an investigation of what type of information prospective parents need for this decision-making in the case of a condition predisposing to intellectual disability.…

In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

Available observational tools used in the identification of social communication difficulties and diagnosis of autism spectrum disorder (ASD) rely partly on visual behaviours and therefore may not be valid in children with visual impairment. A pilot observational instrument, the Visual Impairment and Social Communication Schedule (VISS), was…

The neurosurgical goal when treating children with spina bifida (predominantly myelomeningocele) is to maintain stable neurological functioning throughout the patient's life time. Unfortunately, few long-term outcome studies are available to help direct the neurosurgical care of a child born with myelomeningocele and often treatment relies more…