Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees.
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| Title: | Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees. |
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| Authors: | Pickles, A., Starr, E., Kazak, S., Bolton, P., Papanikolaou, K., Bailey, A., Goodman, R., Rutter, M. |
| Source: | Journal of Child Psychology & Psychiatry. 2000, Vol. 41 Issue 4, p491-502. 12p. |
| Abstract: | Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed. [ABSTRACT FROM AUTHOR] |
| Copyright of Journal of Child Psychology & Psychiatry is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 90745806 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Pickles%2C+A%2E%22">Pickles, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Starr%2C+E%2E%22">Starr, E.</searchLink><br /><searchLink fieldCode="AR" term="%22Kazak%2C+S%2E%22">Kazak, S.</searchLink><br /><searchLink fieldCode="AR" term="%22Bolton%2C+P%2E%22">Bolton, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Papanikolaou%2C+K%2E%22">Papanikolaou, K.</searchLink><br /><searchLink fieldCode="AR" term="%22Bailey%2C+A%2E%22">Bailey, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Goodman%2C+R%2E%22">Goodman, R.</searchLink><br /><searchLink fieldCode="AR" term="%22Rutter%2C+M%2E%22">Rutter, M.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Journal+of+Child+Psychology+%26+Psychiatry%22">Journal of Child Psychology & Psychiatry</searchLink>. 2000, Vol. 41 Issue 4, p491-502. 12p. – Name: Abstract Label: Abstract Group: Ab Data: Factors influencing the rate, form, and severity of phenotypic expression among relatives of autistic probands are examined. Family history data on 3095 first- and second-degree relatives and cousins from 149 families with a child with autism and 36 families with a child with Down syndrome are studied. The results provide further evidence of an increased risk among autism relatives for the broadly defined autism phenotype. Of proband characteristics, severity of autism and obstetric optimality were confirmed as being related to familial loading for probands with speech. There was little variation in loading among probands lacking speech. The type of phenotypic profile reported in relatives appeared little influenced by characteristics of the relative or the proband, except for variation by degree of relative, parental status of relative, and perhaps proband's birth optimality score. Phenotypic rates among parents suggested reduced fitness for the severest and more communication-related forms of expression but not for the more mild and social forms of expression. Patterns of expression within the families did not support a simple X-linked nor an imprinted X-linked mode of inheritance. The basis for sex differences in rates of expression is discussed. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Journal of Child Psychology & Psychiatry is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1017/s0021963099005557 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 12 StartPage: 491 Titles: – TitleFull: Variable Expression of the Autism Broader Phenotype: Findings from Extended Pedigrees. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Pickles, A. – PersonEntity: Name: NameFull: Starr, E. – PersonEntity: Name: NameFull: Kazak, S. – PersonEntity: Name: NameFull: Bolton, P. – PersonEntity: Name: NameFull: Papanikolaou, K. – PersonEntity: Name: NameFull: Bailey, A. – PersonEntity: Name: NameFull: Goodman, R. – PersonEntity: Name: NameFull: Rutter, M. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2000 Type: published Y: 2000 Identifiers: – Type: issn-print Value: 00219630 Numbering: – Type: volume Value: 41 – Type: issue Value: 4 Titles: – TitleFull: Journal of Child Psychology & Psychiatry Type: main |
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