Effects of familial risk factors and place of birth on the risk of autism: a nationwide register‐based study

Lauritsen, Marlene Briciet; Pedersen, Carsten Bøcker; Mortensen, Preben Bo

doi:10.1111/j.1469-7610.2004.00391.x

Cited by 303 publications

(270 citation statements)

References 47 publications

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“…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).…”

mentioning

confidence: 99%

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

Schaefer

Mendelsohn

2013

Genetics in Medicine

438

393

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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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mentioning

confidence: 99%

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

Schaefer

Mendelsohn

2013

Genetics in Medicine

438

393

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“…Strikingly, across all four studies, the frequency of de novo mutation was equal between ASD and control participants. Another commonality across studies was the correlation between older fathers and increased number of de novo point mutations, which could help explain the paternal-age-dependent risk for ASD [60-63]. In addition, two studies report an increase in gene-disrupting SNVs in ASD individuals versus unaffected siblings, although the overall SNV mutation rate is equal between probands and siblings [23,25].…”

Section: The Current State Of Autism Geneticsmentioning

confidence: 99%

Autism genetics: searching for specificity and convergence

2012

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“…Several studies report a strong association (6)(7)(8)(9)(10), yet others do not (11)(12)(13). The association may be unclear due to methodological limitations.…”

Section: Introductionmentioning

confidence: 99%

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

et al. 2010

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Effects of familial risk factors and place of birth on the risk of autism: a nationwide register‐based study

Abstract: The highest risk of autism was found in families with a history of autism, or Asperger's syndrome and other PDDs in siblings, supporting the commonly accepted knowledge that genetic factors are involved in the etiology of autism.

Cited by 303 publications

References 47 publications

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

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

Autism genetics: searching for specificity and convergence

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

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