Introduction: Fragile X syndrome (FXS) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. The present study was undertaken to investigate FXS and its prevalence in moderate mentally retarded people in patients. Materials and methods: Nineteen people with moderate mental retardation (MR) who wer...

We investigated the early socio-communicative development of individuals with fragile X syndrome (FXS) by undertaking a retrospective analysis family videos. Videos were analyzed to identify existing communicative forms and functions. Analyses undertaken on seven children who later diagnosed FXS. The filmed when they 9–12 months old before being diagnosed. Fourteen different six functions obser...

introduction: fragile x syndrome (fxs) is one of the most prevalent genetic causes of developmental disability, representing the most frequent form of inherited severe cognitive deficit. the present study was undertaken to investigate fxs and its prevalence in moderate mentally retarded people in patients. materials and methods: nineteen people with moderate mental retardation (mr) who were cli...

Abstract Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and best-described monogenic cause autism. CGG-repeat expansion in FMR1 gene leads to silencing, loss-of-expression Mental Retardation Protein (FMRP), a common FXS. Missense mutations were also identified FXS patients, including recurrent FMRP-R138Q mutation. To investigate mechanisms underlying cau...

BACKGROUND It is not known whether those with co-morbid fragile X syndrome (FXS) and autism represent a distinct subtype of FXS; whether the especially severe cognitive delays seen in studies of young children with co-morbid FXS and autism compared with those with only FXS continue into adolescence and young adulthood; and whether autism in those with FXS is 'true autism', i.e. reflects the sam...

Fragile X syndrome (FXS) is the most prevalent inherited cause of intellectual disability (ID) and autism spectrum disorder (ASD). Many studies have been conducted over years, however, in Indonesia there relatively less knowledge on prevalence FXS. We reviewed all involving FXS screening cascade testing high-risk population for two decades, to elucidate prevalence, as well explore presence gene...

Prepulse inhibition (PPI) may useful for exploring the proposed shared neurobiology between idiopathic autism and autism caused by FXS. We compared PPI in four groups: typically developing controls (n = 18), FXS and autism (FXS+A; n = 15), FXS without autism spectrum disorder (FXS-A; n = 17), and idiopathic autism (IA; n = 15). Relative to controls, the FXS+A (p < 0.002) and FXS-A (p < 0.003) g...

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 this issue, variation in the FXS linguistic phen...

This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS + ASD) or FXS alone. Ninety males (3-25 years) with FXS or FXS + ASD were evaluated for secondary medical diagnoses by medical history and examination. A sig...

Fragile X syndrome (FXS) is caused by the absence of the fragile X mental retardation protein (FMRP). We have previously generated FXS-induced pluripotent stem cells (iPSCs) from patients' fibroblasts. In this study, we aimed at unraveling the molecular phenotype of the disease. Our data revealed aberrant regulation of neural differentiation and axon guidance genes in FXS-derived neurons, which...