Many people with intellectual disabilities (ID) depend on caregivers for pain identification and pain management decisions. Therefore, the aim was to explore caregivers' experience with pain in Prader-Willi syndrome (PWS), Williams syndrome (WS), and Fragile-X syndrome (FXS). A questionnaire was developed to gather third-party reporting of mainly…

Rhyme awareness is a typical component of preschool curricula, yet research evidence does not support a direct link between rhyming ability in typically developing preschoolers and later literacy acquisition. Since the evidence base on literacy development among typically developing children is often used to guide intervention among children with…

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…

Background: There is limited research documenting the health and/or psychological services accessed by adults with rare genetic syndromes who engage in challenging behaviour. The study documented service receipt and associations with person characteristics. Method: Thirty-two parents of adults with rare genetic syndromes completed an adapted…

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…

Clinical Question: Would a child with fragile X syndrome benefit more from phonemic awareness and phonics instruction or whole-word training to increase reading skills? Method: Systematic review. Study Sources: PsycINFO. Search Terms: fragile X OR Down syndrome OR cognitive impairment OR cognitive deficit OR cognitive disability OR intellectual…

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…

Purpose: In this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period). Method: Participants were 28 children with FXS (24 boys, four girls) and their…