Children with Coloboma, Heart defects, Atresia choanae, Restricted growth, Genital hypoplasia, and Ear abnormalities (CHARGE) syndrome have many sensory impairments that can cause delays in motor development impacting physical activity, health, and quality of life. However, only one limited study has investigated motor competence in children with…

Self-injurious behaviors (SIB) are elevated in autism spectrum disorder (ASD) and related genetic disorders, but the genetic and biological mechanisms that contribute to SIB in ASD are poorly understood. This study examined rates and predictors of SIB in 112 individuals with disruptive mutations to ASD-risk genes. Current SIB were reported in 30%…

Objectives: This paper explores the relationship between speech therapy intensity and parent satisfaction with speech therapy (ST) in children with Phelan-McDermid Syndrome (P-MS), a rare genetic disorder. Methods: ST intensity ("ST Dose [minutes per session]") × ("ST Dose Frequency") × ("ST Length [years]") and…

Studying anxiety in neurogenetic syndromes may inform the intersection of biological and developmental risks, facilitating effective and targeted interventions. We longitudinally examined stranger fear in infants and toddlers with fragile X syndrome (FXS; n = 46) and typical controls (n = 33), as well as associations between observed stranger fear…

Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…

According to the Multiple Deficit Model, comorbidity results when the genetic and environmental risk factors that increase the liability for a disorder are domain-general. In order to explore the role of domain-general etiological risk factors in the co-occurrence of learning-related difficulties, the current meta-analysis compiled 38 studies of…

The present study examined the relationship between salivary cortisol and maternal responsiveness in mothers of boys with fragile X syndrome (FXS). Maternal responsivity is strongly associated with child outcomes, and children with FXS are at risk for compromised development due to intellectual disability and problem behavior. Increased…

We describe the performance of 292 4- to 17-year-olds with Williams syndrome (WS) on the Kaufman Brief Intelligence Test-2 (KBIT-2; Kaufman & Kaufman, 2004). Mean IQ Composite, Verbal standard score (SS), and Nonverbal SS were in the borderline range relative to the general population, with variability similar to the general population.…

Background: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. Aim: The aim of the present study was to investigate whether…

Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33%) met clinical cut-off…

This study aimed to examine family history of functional articulation disorders (FAD) among Jordanian patients who present with FAD, as well as to investigate the relation of other factors related to the disorder (age, gender, genetic connection between parents, sounds affected, and type of disorder). A convenience sample of 45 patients (ages…

Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a…

We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n = 48), adolescents (n = 85), and adults (n = 34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth…

Objective: Autism spectrum disorder (ASD) is a heritable but highly heterogeneous neuropsychiatric syndrome, which poses challenges for research relying solely on behavioral symptoms or diagnosis. Examining biomarkers may give us ways to identify individuals who demonstrate specific developmental trajectories and etiological factors related to…

Prader-Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a lack of genetically confirmed diagnosis of PWS and inconsistent assessment of behavior. The aim of…