Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders

Steiner, Carlos Eduardo; Guerreiro, Marilisa M.; Marques-de-Faria, Antônia Paula

doi:10.1590/s0004-282x2003000200003

Cited by 26 publications

(10 citation statements)

References 21 publications

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“…[16][17][18][19][20] This range is applicable even for evaluations of patients with pervasive developmental disorder not otherwise specified, atypical autism, Asperger syndrome, or autistic features who did not necessarily meet the criteria of the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders criteria for pervasive developmental disorder. 21 Many factors seem to influence the diagnostic yield.…”

Section: Reported Approaches and Yieldsmentioning

confidence: 99%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer

Mendelsohn

2013

Genetics in Medicine

417

381

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Autism spectrum disorders (ASDs), also known as pervasive developmental disorders, are a behaviorally defined group of neurodevelopmental disorders that are usually diagnosed in early childhood. They are characterized by varying degrees of limitations in communication and social interaction and by atypical, repetitive behaviors with an onset before 3 years of age. The phenotype of ASDs is extremely heterogeneous, with differences from person to person in a wide range of symptoms and severity as well as differences between the various subtypes of ASDs (e.g., autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified).Multiple lines of epidemiologic evidence support the strong role of genetics in the etiology of ASDs. 1-3 Results of population studies of unselected cases of autism are most consistent with multifactorial inheritance. Until quite recently, the accepted recurrence risk for full siblings of a child with autism has been in the range of 3-10%. [4][5][6] Overall, only 2-3% of families have more than one affected child (possibly because of voluntary avoidance of pregnancy after a child is diagnosed). Most studies have reported a sex bias in the recurrence risk in keeping with the presumption of a "multifactorial" mode of inheritance (higher risk if the affected person is of the less commonly affected sex). As such, the reported risk is 7% of another affected child if the first affected child is female and 4% if the first affected child is male. 7 If multiple children (two or more) have autism, the recurrence risk is on the order of 33-50% for any future pregnancy. 7 Two recent studies 8,9 have reported even higher recurrence risks of 11 and 19% with single-sibling involvement. The first 8 was a retrospective self-enrolled/self-identified study using an interactive website. The diagnosis was confirmed, but the identification of second siblings may be a source of ascertainment bias. The second 9 was an international multisite prospective study in 664 families with a calculated 19% recurrence risk. Interestingly, the typically reported sex bias was not noted in one of these studies. 8 Both were single studies that bear replication.The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. The primary roles of the geneticist in this process are to define etiology when possible, to provide genetic counseling, and to contribute to case management. In deciding on the appropriate evaluation for a particular patient, the geneticist will consider a host of factors: (i) ensuring an accurate diagnosis of autism befor...

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Section: Reported Approaches and Yieldsmentioning

confidence: 99%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions

Schaefer

Mendelsohn

2013

Genetics in Medicine

417

381

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“…The molecular tools that can now be utilized in the medical workup of children diagnosed with autism have expanded remarkably in the past few years. Whereas in the past decade we could identify approximately 10-15% of the underlying causes of autism [16,17], more recent studies have increased this percentage to 20-41% in those instances where a thorough genetic workup includes sophisticated metabolic and molecular studies [15,[18][19][20].…”

Section: Overview Of Autismmentioning

confidence: 99%

The Fragile X Family of Disorders: A Model for Autism and Targeted Treatments

Hagerman¹,

Rivera²,

Hagerman³

2008

CPR

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CGG-repeat expansion mutations of the fragile X mental retardation 1 (FMR1) gene are the leading known cause of autism and autism spectrum disorders (ASD). Full mutation expansions (>200 CGG repeats) of the gene are generally silenced, resulting in absence of the FMR1 protein and fragile X syndrome. By contrast, smaller expansions in the premutation range (55-200 CGG repeats) result in excess gene activity and RNA toxicity, which is responsible for the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), and likely additional cases of developmental delay and autism. Thus, the FMR1 gene is causative of a common (autism) phenotype via two entirely different pathogenic mechanisms, RNA toxicity and gene silencing. The study of this gene and its pathogenic mechanisms therefore represents a paradigm for understanding gene-brain relationships and the means by which diverse genetic mechanisms can give rise to a common behavioral phenotype.

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“…They felt that a full metabolic and neuroimaging work up for screening are not justified based on current knowledge. On the other hand, Steiner et al [47] applied a protocol of clinical and laboratory evaluations to 103 outpatients with PDD. The protocol included chromosomal analysis, screening for inborn errors of metabolism, EEG, SPECT and MRI.…”

Section: Conclusion and Recommendationsmentioning

confidence: 99%