By adulthood, most males with fragile X syndrome (FXS) require support to navigate day-to-day settings. The present study cross-sectionally: (1) characterized the profile of daily living skills in males with FXS and (2) examined associated participant characteristics (i.e., fragile X mental retardation protein [FMRP] expression, nonverbal…

The development of an expressive language score for people with autism based on the ADOS-2 was recently reported by Mazurek et al. (2019). The current study examined the construct validity of the ADOS-2 expressive language score (ELS) in a sample of adolescents with fragile X syndrome (n = 45, 10 girls), a neurodevelopmental disorder with high…

Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in…

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…

Background: Although people with Williams syndrome (WS) are often characterized as friendly and sociable with relatively good general language abilities, there is emerging evidence of pragmatic difficulties and trouble comprehending aspects of non-literal language. Aims: The main aim was to investigate the comprehension of sarcasm, metaphor and…

Williams (WS) and Down (DS) syndromes are characterised by roughly opposing ability profiles. Relative verbal strengths and visuospatial difficulties have been reported in those with WS, while expressive language difficulties have been observed in individuals with DS. Few investigations into the executive function (EF) skills of these groups have…

Purpose: To gain a better understanding of language abilities, the expressive macrostructural narrative language abilities of verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) were examined. Method: The authors evaluated 24 adolescents and young adults with DS, 12 male adolescents and…

Background: Girls with fragile X syndrome (FXS) have a wide range of cognitive and language abilities. The range of language outcomes experienced by girls with FXS, however, has been relatively unexplored. The purpose of this exploratory study was to examine receptive and expressive language, with a focus on vocabulary and syntax, in a group of…

Background: Approximately one-quarter of individuals with fragile X syndrome (FXS) meet diagnostic criteria for autism; however, it is unclear whether individuals with comorbid FXS and autism are simply more severely affected than their peers with only FXS or whether they have qualitatively different profiles of behavioural impairments. To address…

Background: Little is known about trajectories of cognitive functioning as individuals with Williams syndrome (WS) move though adulthood. Method: The present study investigated cognitive, linguistic and adaptive functioning in adults with WS aged 19-55 years, using both cross-sectional and longitudinal approaches. Results: Data from the…

In recent years there has been much research interest in looking for behavioural phenotypes (or specific profiles of strengths and weaknesses) that are associated with specific conditions--particularly conditions with genetic origins such as Down syndrome. This kind of information may be very helpful in alerting parents and professionals to the…