Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder
نویسندگان
چکیده
منابع مشابه
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder
BACKGROUND Fragile X syndrome is the most common genetic disorder of intellectual developmental disorder/mental retardation (IDD/MR). The prevalence of FXS in a Chinese IDD children seeking diagnosis/treatment in mainland China is unknown. METHODS Patients with unknown moderate to severe IDD were recruited from two children's hospitals. Informed consent was obtained from the children's parent...
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Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...
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Fragile X testing is a priority in the evaluation of autism spectrum disorders (ASD) cases because identification of the FMR1 mutation leads to new treatment options. This study is focused on determining the prevalence of the FMR1 gene mutation among ASD cases in Indonesia. DSM-IV-TR criteria were administered to diagnose ASD; symptom severity was classified using the Childhood Autism Rating Sc...
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BACKGROUND In this study, we investigated the developmental functions and autistic profiles in children with Fragile X syndrome (FXS). In addition, we established the relationships between developmental and autistic profiles in these children. METHODS The medical records of 12 children with FXS, aged 2 to 7 years, were collected. Fifteen children with autism, without FXS, who were age- and se...
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Fragile X syndrome (FXS), caused by a trinucleotide expansion (>200 CGG repeats) in the fragile X mental retardation gene (FMR1), is currently not included in newborn screening (NBS) panels in the United States as it does not meet the standards for recommendation. Although in the past few years FXS has met many of the criteria for population screening and studies have shown that NBS for FXS ...
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ژورنال
عنوان ژورنال: BMC Pediatrics
سال: 2015
ISSN: 1471-2431
DOI: 10.1186/s12887-015-0394-8