A family genetic study of autism associated with profound mental retardation

Starr E., Berument S., Pickles A., Tomlins M., Bailey A., Papanikolaou K., ...Daha Fazla

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, cilt.31, sa.1, ss.89-96, 2001 (SSCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 31 Sayı: 1
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1023/a:1005669915105
  • Dergi Adı: JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
  • Derginin Tarandığı İndeksler: Social Sciences Citation Index (SSCI), Scopus
  • Sayfa Sayıları: ss.89-96
  • Anahtar Kelimeler: autism, mental retardation, genetics, DIAGNOSTIC OBSERVATION SCHEDULE, COGNITIVE DISABILITIES, RELATIVES, CHILDREN, PHENOTYPE, HISTORY, TWINS
  • Orta Doğu Teknik Üniversitesi Adresli: Evet

Özet

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-IO 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.