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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Molecular Autism

Aug 14, 2019

Arnold MunnichMoïse Assouline

Abstract

Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. To improve access to services, an ambulatory team has been established ...read more

Mentioned in this Paper

Microarray Analysis
Fragile X Syndrome
Genes
Health Services
Neurodevelopmental Disorders
Evaluation
DNA Resequencing
Massively-Parallel Sequencing
Autism Spectrum Disorders
Screening Generic
3
13
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Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Molecular Autism

Aug 14, 2019

Arnold MunnichMoïse Assouline

PMID: 31406558

DOI: 10.1186/s13229-019-0284-2

Abstract

Neurogenetics investigations and diagnostic yield in patients with autism spectrum disorder (ASD) have significantly improved over the last few years. Yet, many patients still fail to be systematically investigated. To improve access to services, an ambulatory team has been established ...read more

Mentioned in this Paper

Microarray Analysis
Fragile X Syndrome
Genes
Health Services
Neurodevelopmental Disorders
Evaluation
DNA Resequencing
Massively-Parallel Sequencing
Autism Spectrum Disorders
Screening Generic
3
13

Similar Papers Found In These Feeds

Fragile X Syndrome

Fragile X syndrome is caused by an expanded CGG repeat (> 200 repeats) in the 5' untranslated portion of the fragile mental retardation 1 gene (FMR1) within the X chromosome, leading to deficiency of fragile X mental retardation protein (FMRP). It is cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. Intellectual disability occurs in nearly all males and roughly 50% of females with the full mutation. Discover the latest research on Fragile X syndrome here.

Neurodevelopmental disorder

Neurodevelopmental disorders such as attention deficit hyperactivity disorder (adhd) and autism spectrum disorder, although most commonly considered in childhood, can be lifelong conditions. Here is the latest research.

Related Papers

The British Journal of Psychiatry : the Journal of Mental Science

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

The British Journal of Psychiatry : the Journal of Mental ScienceApril 26, 2018
Johan H ThygesenAnnick Vogels
Paper Details
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