We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with…

Background: Marijuana as an alternative treatment for chronic illnesses has gained popularity over the past several years, and researchers continue to report positive outcomes for a growing number of disorders. Objective: To address the increasing number of individuals with disabilities using medicinal marijuana, this study sought to ascertain how…

Early parent-child interactions (PCI) impact social cognitive development. Relatedly, children with various developmental disorders exhibit abnormal parental attachment relationships. Parental characteristics and behaviors can impact PCI and socioemotional development as well. No research has examined the parent-child dynamic in Prader-Willi…

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…

Classroom noise impairs students' cognition and learning. At a first glance, it seems useful to prevent the negative effects of noise on academic learning by wearing noise-cancelling (NC) headphones during class. The literature and guidelines emphasize the academic benefits of wearing NC headphones (decreased auditory distraction, increased…

Rhyme awareness is a typical component of preschool curricula, yet research evidence does not support a direct link between rhyming ability in typically developing preschoolers and later literacy acquisition. Since the evidence base on literacy development among typically developing children is often used to guide intervention among children with…

Deletion or duplication of the short arm of chromosome 9 may lead to a variety of clinical conditions including craniofacial and limb abnormalities, skeletal malformations, mental retardation, and autism spectrum disorder. Here, we present a case report of 5-year-old boy with 9p deletion syndrome and autism spectrum disorder.

An infant's vocal capacity develops significantly during the first year of life. Research suggests early measures of pre-speech development, such as canonical babbling and volubility, can differentiate typical versus disordered development. This study offers a new contribution by comparing early vocal development in 10 infants with Fragile X…

Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS,…

Objective: Familial hypercholesterolaemia (FH), an autosomal dominant disorder causing elevated low-density lipoprotein (LDL) cholesterol from birth resulting in premature cardiovascular disease, is only diagnosed in 10% of affected patients. This study involved partnering with patients with FH and with primary care providers (PCPs) to understand…

DNA analysis is a common diagnostic tool in healthcare: ranging from microbial typing (e.g. DNA strands of viral, bacterial and even fungal pathogens), oncological screen (e.g. Breast cancer detection via DNA analysis of any BRCA gene mutations), genetic amniocentesis test (a medical technique used in determining chromosomal conditions such as…

Noonan syndrome (NS) is a common genetic disorder that can cause a vast array of health conditions. Characteristics of NS include specific facial features as well as a higher chance of developing congenital heart disease, failure to thrive, and vision abnormalities. These deficits may manifest as behavioral and emotional difficulties, leaving…

Introduction: The purpose of this study was to gain information from parents in the United States about their children with albinism. The article focuses on information and services related to medical care and low vision care. Methods: An online questionnaire was used to collect data, and parents had opportunities to submit additional information.…

New skills may be learned by active experience (experiential learning or learning by doing) or by observation of others' experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and…

Shared reading is an engaging activity that can be used to facilitate communication between parents and their children. This is true for children with and without disabilities. The current study describes the communication that mothers used during shared reading with their daughters with Rett syndrome when reading unfamiliar books before and after…