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…

This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data derived from the Fragile X Online Registry With Accessible Research Database (FORWARD), a natural…

Smith-Magenis syndrome (SMS) is a rare genetic syndrome. Students with SMS have a neurobehavioural phenotype which has been characterised as challenging for both parents and teachers. Challenging behaviour often has a negative impact on the person's learning ability and is a hindrance in the learning environment. Challenging behaviour also impacts…

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 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…

The experience of having a rare disorder was summarised in a large study as 'falling outside the vast field of knowledge of the professionals'. Parents (31 mothers and 17 fathers) of 32 persons with Smith-Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes…

Children with fragile X syndrome (FXS) display wide-ranging intellectual and behavioral abilities that affect daily life. We describe the educational setting of students with FXS and assess the relationships between school setting, co-occurring conditions, and functional ability using a national survey sample (n = 982). The majority of students…

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,…

Background: Challenging behaviour, such as self-injury and physical aggression, is an issue of concern regarding a high proportion of individuals with fragile X syndrome. The aim of this review was to provide a comprehensive overview of the topographies and operant functions of challenging behaviours within the syndrome. Method: Five electronic…

Purpose: Pragmatic language skills are often impaired above and beyond general language delays in individuals with neurodevelopmental disabilities. This study used a multimethod approach to language sample analysis to characterize syndrome- and sex-specific profiles across different neurodevelopmental disabilities and to examine the congruency of…

Literature on the level of adaptive functioning and relative strengths and weaknesses in functioning of individuals with Williams syndrome (WS) was reviewed. The electronic databases PsycINFO, PubMed, Expanded Academic, Web of Science, Scopus and ProQuest were searched electronically for relevant articles and dissertations using the search terms…

Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions,…

We used survey methodology to assess parent-reported autism symptomology in 758 individuals (639 males; 119 females) with fragile X syndrome (FXS). Caregivers reported whether their child with FXS had been diagnosed with an autism spectrum disorder (ASD) and endorsed symptoms based on a list of observable behaviors related to ASD diagnoses.…

The present study examined trajectories of adaptive behavior, behavior problems, psychological symptoms, and autism symptoms in adolescents and adults with fragile X syndrome (n = 147) over a three-year period. Adaptive behavior significantly increased over time, particularly for adolescents, and the severity of behavior problems decreased over…

While there is a strong sex bias in the presentation of autism, it is unknown whether this bias is also present in subclinical manifestations of autism among relatives, or the broad autism phenotype. This study examined this question and investigated patterns of co-occurrence of broad autism phenotype traits within families of individuals with…