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Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects

Johansson, Maria; Gillberg, Christopher and Råstam, Maria LU (2010) In Research in Developmental Disabilities 31(1). p.9-24
Abstract
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of... (More)
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Autism spectrum conditions, Möbius, Diagnostics, OAV, CHARGE
in
Research in Developmental Disabilities
volume
31
issue
1
pages
9 - 24
publisher
Elsevier
external identifiers
  • wos:000272272500002
  • scopus:70350719241
ISSN
1873-3379
DOI
10.1016/j.ridd.2009.07.011
language
English
LU publication?
yes
id
59e607d3-6aaa-4a9a-bd22-1b55f0eb9d85 (old id 1464216)
date added to LUP
2012-01-19 11:31:32
date last changed
2018-05-29 12:04:54
@article{59e607d3-6aaa-4a9a-bd22-1b55f0eb9d85,
  abstract     = {As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Möbius sequence (Möbius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Möbius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.},
  author       = {Johansson, Maria and Gillberg, Christopher and Råstam, Maria},
  issn         = {1873-3379},
  keyword      = {Autism spectrum conditions,Möbius,Diagnostics,OAV,CHARGE},
  language     = {eng},
  number       = {1},
  pages        = {9--24},
  publisher    = {Elsevier},
  series       = {Research in Developmental Disabilities},
  title        = {Autism spectrum conditions in individuals with Möbius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: diagnostic aspects},
  url          = {http://dx.doi.org/10.1016/j.ridd.2009.07.011},
  volume       = {31},
  year         = {2010},
}