Background: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no screening or testing protocols established for the diagnosis of FXS. In this study, we aimed to describe the diagnostic trends of FXS in Colombia. Methods: Data were included on 1322…

Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age,…

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were…

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…

It has been reported that approximate number sense (ANS) task performance is impaired in individuals with Williams syndrome (WS) and Down syndrome (DS). Research with infants has suggested this impairment is caused by sticky fixation in WS and sustained attention deficits for those with DS. This study examined looking patterns of older children…

Challenging behaviors involving food are common for individuals with Prader-Willi syndrome (PWS) and often lead to obesity and other chronic health conditions. Efforts to decrease these behaviors, such as isolation during meals and strict monitoring of food consumption, can be stigmatizing. To decrease the food stealing of a 7 year-old girl with…

Current definitions of specific learning disability (SLD) identify a heterogeneous population that includes individuals with weaknesses in reading, math, or writing, and these academic difficulties often co-occur in many of the same individuals. The Colorado Learning Disabilities Research Center (CLDRC) is an interdisciplinary, multisite research…

Parents of toddlers with an older sibling with autism spectrum disorder (ASD; high risk, HR) and parents of low risk (LR) toddlers with typically-developing older siblings read a wordless picture book to their child at 22 and 28 months. Parents' and toddlers' internal state language (ISL) was coded; parents reported on toddlers' use of ISL.…

Early identification of behavioral risk markers for anxiety is essential to optimize long-term outcomes in children with neurodevelopmental disorders. This study analyzed attentional avoidance and its relation to anxiety and autism spectrum disorder (ASD) symptomatology during social and nonsocial fear conditions in toddlers with fragile X…

For this study, the researchers used a grounded theory approach to explore the perspectives of parents with children who have CHARGE syndrome regarding their children's physical education experiences. Participants included 10 mothers of children with CHARGE syndrome ages 6 to 23 years old. The parents completed a demographic survey and…

CHARGE syndrome is a rare genetic disorder which can impact every sensory system and is often associated with significant medical, communicative, developmental, and behavioral difficulties. Due to the rarity and complexity of CHARGE syndrome, educators often lack the expertise required to effectively understand and accommodate the needs of these…

Purpose: The primary aim of this study was to investigate the extent to which individuals with facial and/or speech differences secondary to a craniofacial anomaly experienced bullying through social media platforms during late school age and adolescence. Method: Using an online survey platform, a questionnaire was distributed via several public…

This study examined trajectories of daily living skills, behavior problems, body mass index (BMI), and health conditions spanning nearly a decade in adolescents and adults with fragile X syndrome (N = 134; age range at study end = 19-49 years), examining influences of sex and autism spectrum disorder (ASD) symptoms. Hierarchical linear modeling…

Limited information is available concerning the specificity of the forms and functions of aggressive behavior exhibited by boys with fragile X syndrome (FXS). To investigate these relationships, we conducted indirect functional assessments of aggressive behavior exhibited by 41 adolescent boys with FXS and 59 age and symptom-matched controls with…

We examined the cognitive, language, and instructional factors associated with reading ability in Williams syndrome (WS). Seventy 9-year-olds with WS completed standardized measures of real-word reading, pseudoword decoding, reading comprehension, phonological skills, listening comprehension, nonverbal reasoning, visual-spatial ability, verbal…