Genetic Evaluation of Autism
Section snippets
Conclusion
The past several years have yielded mounting evidence of the strong genetic basis of autism. Advances in genetic technology have increased the diagnostic yield for autism spectrum disorders. Every person (family) with an ASD should be offered a genetic evaluation to determine the etiology of the condition. Before the evaluation the clinician should discuss all of the pertinent parameters of testing including cost, patient investment, diagnostic yield, and possible implications of a confirmed
References (47)
- et al.
Obsessive-compulsive behaviors in parents of multiplex autism families
Psychiatry Res
(2003) The genetics of autism
Semin Pediatr Neurol
(2004)- et al.
Diagnostic yield of the neurologic assessment of the developmentally delayed child
J Pediatr
(1995) - et al.
The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders
Genet Med
(2006) - et al.
Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders
Genet Med
(2006) - et al.
Genetic testing in autism: how much is enough?
Genet Med
(2007) - et al.
MDIGenetics evaluation for the etiologic diagnosis of autism spectrum disorders.
Genet Med
(2008) - et al.
The teratology of autism
Int J Dev Neurosci
(2005) - et al.
Identification of MeCP2 mutations in a series of females with autistic disorder
Pediatr Neurol
(2003) - et al.
Macrocephaly in children and adults with autism
J Am Acad Child Adolesc Psychiatry
(1997)
Autistic disturbances of affective contact
Nerv Child
Diagnostic and Statistical Manual of Mental Disorders Fourth Edition (DSM- IV)
Trajectory of development in adolescents and adults with autism
Ment Retard Dev Disabil Res Rev
Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
J Autism Dev Disord
The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism
J Autism Dev Disord
Mental Health in the United States: Parental report of diagnosed autism in children aged 4-17 years–United States, 2003-2004
Morb Mortal Wkly Rep
Epidemiological surveys of autism and other pervasive developmental disorders: An update
J Autism Dev Disord
Etiologic yield of autistic spectrum disorders: A prospective study
Am J Med Genet C Semin Med Genet
The yield of the medical evaluation of children with pervasive developmental disorders
J Autism Dev Disord
Outcomes of genetic evaluation in children with pervasive developmental disorder
J Dev Behav Pediatr
The yield of laboratory investigations in children with infantile autism
J Neural Transm
Etiologic yield of autistic spectrum disorders: A prospective study
J Child Neurol
On the selection of patients with developmental delay/mental retardation and autism spectrum disorders for genetic studies
Am J Med Genet A
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2021, Neural Engineering Techniques for Autism Spectrum Disorder: Volume 1: Imaging and Signal AnalysisAssociation between MTHFR gene polymorphism and susceptibility to autism spectrum disorders: Systematic review and meta-analysis
2020, Research in Autism Spectrum DisordersCitation Excerpt :ASD as a childhood disorder, is characterized by two major symptoms including restricted/repetitive behaviors, and social communication deficits which is combination of social and communication problems (Devlin & Scherer, 2012; Szatmari et al., 2012). During recent years, a significant increase in the reported incidence of ASD has attracted much more attention in the world (Mendelsohn & Schaefer, 2008). The global prevalence of the ASD has been estimated to be approximately 1/80–100 (Liu et al., 2011; Mendelsohn & Schaefer, 2008).
Artificial intelligence analysis of newborn leucocyte epigenomic markers for the prediction of autism
2019, Brain ResearchCitation Excerpt :ASD is known to be highly heterogeneous in both clinical presentation and etiology. There is evidence of a strong genetic component (Mendelsohn and Schaefer, 2008; Betancur, 2011). Classic genetic changes, such as gene mutations, translocations, inversions, and copy number variations play a major role in the genetic etiology of ASD (Mefford et al., 2012; Reddy, 2005).
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2018, Patient Education and CounselingUrinary organophosphate insecticide metabolite concentrations during pregnancy and children's interpersonal, communication, repetitive, and stereotypic behaviors at 8 years of age: The home study
2017, Environmental ResearchCitation Excerpt :While the autistic phenotype develops and manifests in early childhood, the abnormal neural circuitry behind ASDs most likely develops in utero (London et al., 2007). Gestational exposures play an important role in ASD risk (Mendelsohn and Schaefer, 2008; Chomiak et al., 2013), but few genetic or environmental risk factors have been found to contribute definitively to ASD risk (Kalkbrenner et al., 2014). An in utero environmental exposure that may increase the risk of ASDs is the class of insecticides known as organophosphates (OP).
Stem cells and modeling of autism spectrum disorders
2014, Experimental NeurologyCitation Excerpt :Consequently, gene discovery promises to help elucidate the underlying pathophysiology of these syndromes and directed to eventually improve diagnosis, treatment, and prognosis of ASD. This strategy is highly motivated because less than 15% of diagnosed cases of autism have an underlying cause identified (Mendelsohn and Schaefer, 2008). The advent of high-throughput sequencing (HTS) of genetic data created the possibility to explore, with high precision and thorough coverage, a large volume of genetic information at one time.