Diagnosing Neurodevelopmental, Behavioral, and Mental Disorders Associated with Fragile X Syndrome with the ICD-11Full mutations within the Fragile X Messenger Ribonu-cleoprotein 1 gene (FMR1) give rise to a diverse array of neuropsychiatric and neurodevelopmental phenotypes across various age groups, ...
We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory. Methods Data was analyzed from 433 patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH) and/or ...
Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked ...
fragile X syndrome testing | WEINSTEIN et al ORIGINAL RESEARCH ARTICLE Female (4829) Genetic patients 10,757 Sex Male 5928 No (5611) ICD9: 299.0 for ASD (no trisomies, neurofibromatosis, metabolic or mitochondrial disorders) Yes 317 Remove duplicate patients 270 CMA Tested with CMA Yes and/or...
(2002). Psy- chopathology and familial stress: Comparison of boys with fragile X syndrome and spinal muscular atrophy. Journal of Child Psychology and Psychiatry, 43, 949-957.von Gontard A, Backes M, Laufersweiler-Plass C, et al. Psychopathology and familial stress-comparison of boys with ...
Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (F
Recently Xq27.3 region has been cloned and the mutation causing f r a g i l e X syndrome has been uncovered at molecular level. We prepared the diagnostic DNA probes by direct enzymatic amplification of human chromosomal DNA. The probe was applied for the analyses of f r a g i l e X...
We tested whether empathy is impaired and associated with anxiety in girls with fragile X syndrome (FXS). We measured parent-reported empathy and self-reported anxiety in young girls with FXS and in a developmentally-matched comparison group. Girls with FXS received higher parent-reported scores on...
Premutations have also been found in men over 50 with a progressive ataxia and tremor syndrome (Fragile X-associated tremor-ataxia syndrome; FXTAS). In this case, the risk shows a linear correlation with repeat size and an age-related penetrance rising from 17% at age 50 to 75% at age ...