This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural…

Autism spectrum disorder (ASD) represents a group of childhood-onset lifelong neuro-developmental disorders. However, the association between single nucleotide polymorphisms (SNPs) in the deleted in colorectal carcinoma (DCC) gene and ASD susceptibility remains unclear. We investigated the association between ASD susceptibility and seven SNPs in…

Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting from mutations of the MECP2 gene. Hyperactivity of the hypothalamic-pituitary-adrenal (HPA) axis and abnormal stress responses have been observed in animal models of RTT, but little is known about HPA axis function among individuals with RTT. Diurnal salivary cortisol patterns…

Background: Although language difficulties are one of the most distinctive characteristics of the neuropsychological profile of children with sex chromosome trisomies (SCT), the analysis of the maternal input addressed to them is a neglected topic. Aims: The present study aims to analyse the lexical, morphosyntactic, and functional features of the…

This work presents an experiment that seeks to simulate human color vision through electronic components in an attempt to build, together with the students, a cybernetic 'eye'. The limitation of the cybernetic eye developed here in relation to the standard human chromatic vision, which makes it a 'colorblind eye', is an argument to be explored by…

There is an abundance of literature on health-related outcomes for children and young people with Prader-Willi syndrome and on their lived experiences as well as on their caregivers'. However, little is known about the experiences of education practitioners when providing for them. This study gathered in-depth evidence of the lived experience of…

Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental…

Children with CHARGE syndrome, an extremely complex, highly variable genetic disorder, are significantly delayed in the onset of their motor milestones in comparison with children without disabilities due to sensory and motor deficits as well as lengthy hospitalizations and reduced physical activity. Currently, the role of parents' perceptions and…

Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a theory-informed qualitative…

Symptoms of autism spectrum disorder (ASD) are present in children with mucopolysaccharidosis type III (MPS III). Questionnaires measuring the two core domains of ASD (social responsiveness and repetitive behaviour) were completed by N = 17 parents of children with MPS III. Results indicated that scores consistent with ASD were reported by all…

Background: The 22q11.2 deletion syndrome (22q11DS) is characterised by a changing pattern of overlapping intellectual, physical, and mental disabilities along the course of one's life. However, the impact of overlapping disorders (multimorbidity) on educational challenges remains unclear. Method: A survey was conducted with 88 caregivers of…

Increased attention is arising on the delivery of remote cognitive interventions, which allow performing exercises in everyday settings, favouring rehabilitation continuity. The present study offers an overview of remote cognitive training programs for children with congenital brain malformation or genetic syndrome affecting the central nervous…

Background: Individuals with developmental language disorder or Williams syndrome are reported to use more gestures than individuals with typical development. However, these two groups differ considerably in visuospatial and language skills, two skills that are hypothesized to shape gesture rate. Aims: We first examined whether children with both…

Introduction: Albinism is a genetic condition caused by a lack of pigment in the eyes, with some forms of albinism also affecting pigmentation in the hair and skin. Individuals with albinism experience some degree of visual impairment as well as hypopigmentation. Both visual impairment and physical appearance may contribute to students with…

Vision problems can lead to negative developmental outcomes. Children with Williams syndrome and Down syndrome are at higher risk of vision problems, and these are less likely to be detected due to diagnostic overshadowing and difficulty accessing eye-care. Education, Health and Care (EHC) plans are statutory documents, introduced by the Children…