Chronic illness requires frequent medical treatments and lifestyle restrictions that increase academic and socioemotional stressors for families. This paper presents academic intervention recommendations based on a hospital's approach to improving educational outcomes for children with chronic illness. A case study on an intervention for a girl…

Purpose: This study used a prospective longitudinal design to evaluate the trajectory and predictors of noncomprehension signaling in male and female youth with fragile X syndrome (FXS). Method: A direction-following task in which some of the directions were inadequate was administered. Participants were 52 youth (36 boys, 16 girls) with FXS. Upon…

Social skills are critical for academic, social, and psychological success of children with both typical and atypical development. Boys with fragile X syndrome (FXS) are at high risk for social skill impairments, given intellectual impairments and secondary conditions. The present study examines the impact of adaptive behavior, autism symptoms,…

Rubinstein-Taybi syndrome (RTS) is a rare genetic disease that associates intellectual disability with somatic characteristics. We have conducted a study of the overall motor abilities of RTS participants. Static postural performance as well as gait parameters were somewhat decreased, although not significantly compared to typically developing…

Previous work has noted that some children with autism spectrum disorder (ASD) display weaknesses in receptive vocabulary relative to expressive vocabulary abilities. The current study extended previous work by examining the receptive-expressive vocabulary profile in boys with idiopathic ASD and boys with concomitant ASD and fragile X syndrome…

Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and "CHRNA7" implicated as a candidate gene. However, the pathogenicity of duplications of…

Purpose: One aspect of morphosyntax, finiteness marking, was compared in children with fragile X syndrome (FXS), specific language impairment (SLI), and typical development matched on mean length of utterance (MLU). Method: Nineteen children with typical development (mean age = 3.3 years), 20 children with SLI (mean age = 4.9 years), and 17 boys…

Anorexia nervosa is a complex behavioral disorder with the highest risk of death of any psychological disorder. Between 15% and 20% of those suffering from anorexia die from complications that are attributed either directly or indirectly to self-starvation. Heritability for anorexia is around 0.5, meaning about 50% of the risk for anorexia is…

Purpose: The ability to repair breakdowns in communication is an important pragmatic language skill that helps to maintain clear and meaningful interactions. Examining this ability in genetically based neurodevelopmental disabilities in which pragmatics are affected can provide important information about the precise pragmatic skills impacted…

Background: Phelan-McDermid syndrome is caused by a deletion at chromosome 22q13.3, and results in a phenotype characterised by intellectual disability, features of autism, physical and mental health conditions. It is becoming increasingly recognised that bipolar disorder represents part of this phenotype. Materials and methods: This case study…

The purpose of this article is to describe changes in problematic eating symptoms across 6 months in children seen in an outpatient feeding clinic and explore child characteristics associated with symptom changes. Participants were 58 parents of children aged 6 months to 7 years of age who were seen in an outpatient feeding clinic. Parents…

Individuals with fragile X syndrome (FXS) present with significant deficits in reading skills, but scant research exists to understand the characteristics of the reading delays or best practices for reading instruction with this population. Study 1 examined the relationship between phonological awareness and reading skills in individuals with FXS.…

School psychologists are asked to provide a number of different services in schools, including evaluating and providing recommendations to educators and parents on children and adolescents with rare genetic conditions. One genetic disorder with physical, cognitive, and behavioral features is Prader-Willi syndrome (PWS). PWS is a unique genetic…

Purpose: To date, no studies have imaged the velopharynx in children with 22q11.2 deletion syndrome (22q11.2 DS) without the use of sedation. Dysmorphology in velopharyngeal structures has been shown to have significant negative implications on speech among these individuals. This single case study was designed to assess the feasibility of a…

Background: Down syndrome (DS) and Fragile X syndrome (FXS) are the major genetic causes of intellectual disabilities. Here, we present a case of a 32-year-old woman with the diagnosis of both FXS and DS. She is the daughter of a 47-year-old pre-mutation woman who also has three sons with FXS. Methods: Cytogenetic testing detected the presence of…