A Family Genetic Study of Autism Associated with Profound Mental Retardation

Elizabeth Starr; Sibel Kazak Berument; Andrew Pickles; Megan Tomlins; Anthony Bailey; Katerina Papanikolaou; Michael Rutter

doi:10.1023/A:1005669915105

A Family Genetic Study of Autism Associated with Profound Mental Retardation

Elizabeth Starr, Sibel Kazak Berument, Andrew Pickles, Megan Tomlins, Anthony Bailey, Katerina Papanikolaou, Michael Rutter

Research output: Contribution to journal › Article › peer-review

Abstract

We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.

Original language	English
Pages (from-to)	89-96
Number of pages	7
Journal	Journal of Autism and Developmental Disorders
Volume	31
Issue number	1
DOIs	https://doi.org/10.1023/A:1005669915105
Publication status	Published - Feb 2001

Keywords

Autism
Genetics
Mental retardation

Access to Document

10.1023/A:1005669915105

Cite this

@article{957f4f0a2a4641f3af16508e1d2a8404,

title = "A Family Genetic Study of Autism Associated with Profound Mental Retardation",

abstract = "We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.",

keywords = "Autism, Genetics, Mental retardation",

author = "Elizabeth Starr and Berument, {Sibel Kazak} and Andrew Pickles and Megan Tomlins and Anthony Bailey and Katerina Papanikolaou and Michael Rutter",

note = "UI - 21333839DA - 20010706IS - 0162-3257LA - engPT - Journal ArticleSB - IM",

year = "2001",

month = feb,

doi = "10.1023/A:1005669915105",

language = "English",

volume = "31",

pages = "89--96",

journal = "Journal of Autism and Developmental Disorders",

issn = "0162-3257",

publisher = "Springer New York",

number = "1",

}

TY - JOUR

T1 - A Family Genetic Study of Autism Associated with Profound Mental Retardation

AU - Starr, Elizabeth

AU - Berument, Sibel Kazak

AU - Pickles, Andrew

AU - Tomlins, Megan

AU - Bailey, Anthony

AU - Papanikolaou, Katerina

AU - Rutter, Michael

N1 - UI - 21333839DA - 20010706IS - 0162-3257LA - engPT - Journal ArticleSB - IM

PY - 2001/2

Y1 - 2001/2

N2 - We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.

AB - We sought to determine if the family loading for either the broader autism phenotype or for cognitive impairment differed according to whether or not autism was accompanied by severe mental retardation. The sample comprised 47 probands with autism meeting ICD-10 criteria, as assessed by the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule. Family history interview and findings were compared with those for the higher IQ autism and Down syndrome samples in the Bolton et al. (1994) study. The familial loading for autism and for the broader phenotype was closely comparable to that in the study of higher IQ autism, and different from that for Down syndrome. The family loading for scholastic achievement difficulties was slightly, but significantly, higher when autism was accompanied by severe retardation.

KW - Autism

KW - Genetics

KW - Mental retardation

U2 - 10.1023/A:1005669915105

DO - 10.1023/A:1005669915105

M3 - Article

SN - 0162-3257

VL - 31

SP - 89

EP - 96

JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

IS - 1

ER -

A Family Genetic Study of Autism Associated with Profound Mental Retardation

Abstract

Keywords

Access to Document

Fingerprint

Cite this