Genetic Testing for Developmental Delay and Autism Spectrum Disorder

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder and Congenital Anomalies

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

UNLABELLED Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unn...

Genetic Testing, Including Chromosomal Microarray Analysis and Next-Generation Sequencing Panels, for the Evaluation of Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and/or Congenital Anomalies - 8/1/16

Chromosomal microarray analysis (CMA) testing has been proposed for detection of genetic imbalances in infants or children with characteristics of developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), and/or congenital anomalies. CMA increases the diagnostic yield over karyotyping in this population and may impact clinical management decisions. Next-generation seq...

Comparison of Developmental Family Functioning, Personality Traits, and Parenting Stress in Mothers with Autism Spectrum Disorder and Peers with Normal Counterparts

Introduction: Neurodevelopmental disorders cause a wide range of problems for the child that directly or indirectly lead to a decrease in the quality of life of the family. Considering that mothers have the most responsibility for the development of their children, this study aimed to compare family developmental function, personality characteristics and parenting stress of mothers of children ...