In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive…

Purpose: Language studies on populations with rare genetic disorders are limited. Hence, there is little data on commonly found or expected developmental linguistic traits and cognitive mechanisms that may be impaired. Based on the hypothesis that there is a close connection between language and cognition and the relevance of specific genetic…

Objective: We leveraged common genetic variation underlying ADHD, educational attainment (EA) and cognition (COG) to understand the nature of the Behavior Rating Inventory for Executive Functions (BRIEF) and its relationship to academic functioning. Method: Participants were 991 youth, ages 7 to 17, consecutively referred for neuropsychiatric…

This study aimed to characterize the relationship between insistence on sameness (IS), executive functioning (EF) and anxiety among individuals with "PTEN" mutations and individuals with macrocephalic ASD. The sample included 38 individuals with "PTEN" mutation and ASD diagnosis ("PTEN"-ASD; M[subscript age] =…

Unlike with the typically developing population, non-typically developing individuals, especially those with intellectual disabilities, have usually been recommended to learn and use only one language, despite perhaps coming from bilingual families or living in multilingual environments. This common practice, however, is not backed by empirical…

Background: The present study investigated decision-making in patients with Prader-Willi syndrome (PWS) using the Soochow Gambling Task (SGT). The objective was to assess whether adults with PWS have impaired hot executive functions and whether the deficit is specific to PWS or linked to intellectual disabilities. Method: The SGT performance of 26…

3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were…

The block design task (BDT) is a visuospatial measure that individuals with Williams syndrome (WS) perform poorly on. However, it is unclear what underlies their impaired performance. This study investigated whether poorer performance is a result of visuospatial difficulties, executive function (EF) difficulties, atypical looking strategies, or a…

A subset of mothers who carry the "FMR1" premutation may express a unique phenotype. The relationship between the "FMR1" phenotype and mother-child interaction in families with fragile X-associated disorders has not been well characterized, despite the importance of high-quality mother-child interaction for child development.…

Background and aims: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by language impairment, and challenges with social interaction, communication, and repetitive behaviors. Although genetics are a primary cause of ASD, the exact genes and molecular mechanisms involved in its pathogenesis are not completely clear. The…

Students with sex chromosome aneuploidies (SCAs) are at increased risk for learning disabilities and often require individualized supports in the school setting. Parents of students with rare disorders such as SCAs possess a unique understanding of their child's educational experiences and play a crucial role in the development of successful…

Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links…

Multiple sclerosis is an inflammatory autoimmune disease that attacks the central nervous system through the destruction of myelin. Frequently cited symptoms include cognitive impairment as a hallmark repercussion, neuropsychological executive dysfunction, and psychosocial disturbances, such as affective disorders and fatigue. Other symptomatology…

Spina bifida (SB) refers to a subgroup of congenital defects where the neural tube fails to fuse, often resulting in a protruding spinal cord. This is often due to a defect or absence of vertebral arches resulting from a failure of the mesoderm to organize over the region of the defect. SB occurs during gestation between the third and sixth week…

The present investigation explored long-term relationships of behavioral symptoms of adolescents and adults with developmental disabilities with the mental health of their mothers. Fragile X premutation carrier mothers of an adolescent or adult child with fragile X syndrome (n = 95), and mothers of a grown child with autism (n = 213) were…