Genomic diagnosis for children with intellectual disability and/or developmental delay
نویسندگان
چکیده
منابع مشابه
Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.
INTRODUCTION Global developmental delay (GDD) and intellectual disability (ID) are common reasons for consultation in paediatric neurology. Results from aetiological evaluations of children with GDD/ID vary greatly, and consequently, there is no universal consensus regarding which studies should be performed. MATERIAL AND METHOD We review our experience with determining aetiological diagnoses...
متن کاملDevelopmental Defects of Enamel in Children with Intellectual Disability.
OBJECTIVES To investigate the frequency of developmental defects of enamel (DDE) in children with intellectual disability. SUBJECTS AND METHODS Children aged 5-18 years (72 children with intellectual disabilities and 72 controls) were included in the study. All the teeth were screened for developmental defects of enamel using the modified Developmental defects of enamel (mDDE) index. RESULT...
متن کاملThe co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder.
PURPOSE OF REVIEW The study summarizes supportive epidemiological data regarding the true co-occurrence (comorbidity) and course of mental disorders in children with intellectual disability/intellectual developmental disorders (ID/IDD) across the lifespan. RECENT FINDINGS Published studies involving representative populations of children and adolescents with ID/IDD have demonstrated a three t...
متن کاملPrevalence of Feeding Problems in Children with Intellectual Disability
Objectives: Feeding is an essential function which affects quality of life of the intellectually disabled (ID) persons. Approximately 80% of the severe and profound mentally retarded population have some feeding difficulties. This study aimed to determine the prevalence of feeding problems in children with ID. Methods: In this cross-sectional descriptive study, 144 individuals with Intellect...
متن کاملReanalysis of Whole Exome and Genome Data Leads to New Diagnoses in Children with Intellectual Disability and Developmental Delay
Truncating mutations including frameshift mutations and nonsense mutations contribute to ~45% of all mutations leading to NF1. However, the extent to which specific mechanisms are involved in causing these mutations has not been well explored yet. Here, we analyzed the frequency and characteristics of 1,924 and 1,731 NF1 individuals carrying frameshift and nonsense mutations respectively out of...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genome Medicine
سال: 2017
ISSN: 1756-994X
DOI: 10.1186/s13073-017-0433-1