Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30%…

Background: People with 22q11.2 deletion syndrome (DS) are assumed to be especially vulnerable to developing mental illness such as psychosis. Aim: The study was established to contribute to knowledge about metyrosine medication in patients with 22q11.2 DS and psychosis. Methods: A case study was established including a woman with intellectual…

A growing evidence base supports early intensive behavioral intervention (EIBI) for young children with autism spectrum disorder. We have found only one study exploring the outcome of EIBI for children with Rett syndrome, which reported little effect. It suggested that future studies should employ more fine-grained outcome measures. We provided…

The practice of communicating research findings to participants has been identified as important in the research ethics literature, but little research has examined empirically how this occurs and what research participants' views are in this regard. We interviewed 21 adults with cystic fibrosis who had previously participated in research and 2…

Although social communication skills are commonly delayed in children with neurogenetic syndromes (NGS), skill profiles in very young children are largely under characterized, in part due to the lack of validated assessment measures appropriate for these populations. We addressed this gap by validating and applying a popular early social…

Children with neurogenetic syndromes (NGS) experience comorbid challenging behaviors and psychopathology. We examined challenging behaviors in 86 toddlers and preschoolers across three NGS [Angelman syndrome (AS), Prader--Willi syndrome (PWS), and Williams syndrome (WS)] and 43 low-risk controls (LRC), using the Child Behavior Checklist for Ages…

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…

Typically developing (TD) infants adapt to the social world in part by shifting the focus of their processing resources to the relevant aspects of a visual scene. Any impairment in visual orienting may therefore constrain learning and development in domains such as language. However, although something is known about visual orienting in infants at…

Truncating variants of the "MAGEL2" gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)--a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS…

William's Syndrome (WS) is a rare neurodevelopmental disorder caused by a genetic abnormality, affecting about 1 in 10,000 people worldwide. While there are some behavioral similarities between WS and other high incidence disabilities, such as autism, several unique physical, cognitive, and behavioral characteristics are expressed in individuals…

One of the overriding hopes of the Down syndrome (DS) research community is to arrive at a better understanding of how trisomy 21 affects brain development and function, and that doing so will improve quality of life and independence for people with DS. In searching for the underlying causes of intellectual disability in DS, researchers and…

Sickle Cell Disease (SCD) is an inherited blood disorder affecting approximately 1 in every 365 African American births. Students with SCD are likely to experience ongoing complications that will interfere with their attendance, functioning at school, and overall daily functioning throughout their lives. This article provides education about SCD…

Atypical sensory processing is prevalent across neurodevelopmental conditions and a key diagnostic criterion of autism spectrum disorder. It may have cascading effects on the development of adaptive functions. However, its unique contribution to adaptive functioning and the genetic/environmental influences on this link are unclear. In a clinically…

Although attention deficit hyperactivity disorder (ADHD) is among the most heritable psychiatric childhood disorders, social and gene-environment interactions seemingly play an important role in the etiology of ADHD. Consistent with this, this study finds that School-Wide Positive Behavioral Interventions and Supports (SWPBIS) reduced the…

The National Science Teaching Association (NSTA) and the "Next Generation Science Standards" ("NGSS") have attempted to make planning easier for teachers by creating a common resource bank, but there is no unit design process specifically created for science teachers in a project- and inquiry-based classroom. Without a common…