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…

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…

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 aim of this study was to support the growing evidence suggesting that Prader-Willi Syndrome (PWS) might present with an impairment of executive functions (EFs) and to investigate whether this impairment is specific to patients with PWS or due to their intellectual disability (ID). Six tasks were administered to assess EFs (inhibition,…

This study aimed to characterize social cognition, executive functions (EFs), and everyday social functioning in adolescent girls with fragile X syndrome, and identify relationships among these variables. Participants were 20 girls with FXS and 20 age-matched typically developing peers. Results showed significant between-groups differences in…

"Kcnt1" encoded sodium-activated potassium channels (Slack channels) are highly expressed throughout the brain where they modulate the firing patterns and general excitability of many types of neurons. Increasing evidence suggests that Slack channels may be important for higher brain functions such as cognition and normal intellectual…

Background: Prior research suggests that 60-74% of males and 16-45% of females with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD) in research settings. However, relatively little is known about the rates of clinical diagnoses in FXS and whether such diagnoses are consistent with those performed in a research setting…

Cognitive problems are common in children with neurofibromatosis type 1 and they can often complicate treatment. The current literature review examines cognitive functioning in neurofibromatosis type 1, with a specific focus on executive functioning. This includes exploration of how deficits in executive functioning are expressed in children with…

Williams (WS) and Down (DS) syndromes are characterised by roughly opposing ability profiles. Relative verbal strengths and visuospatial difficulties have been reported in those with WS, while expressive language difficulties have been observed in individuals with DS. Few investigations into the executive function (EF) skills of these groups have…