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Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms

Ekstrom, Anne-Berit; Hakenas-Plate, Louise; Samuelsson, Lena; Tulinius, Mar and Wentz, Elisabet LU (2008) In American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B(6). p.918-926
Abstract
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene. The aims of the present study were to classify a cohort of children with DM1, to describe their neuropsychiatric problems and cognitive level, to estimate the size of the CTG expansion, and to correlate the molecular findings with the neuropsychiatric problems. Fifty-seven children and adolescents (26 females; 31 males) with DM1 (CTG repeats > 40) were included in the study. The following instruments were used: Autism Diagnostic Interview-Revised (ADI-R), 5-15, Griffiths Mental Development Scales, and the Wechsler Scales. Based on age at onset and presenting symptoms, the children were divided into four DM1... (More)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene. The aims of the present study were to classify a cohort of children with DM1, to describe their neuropsychiatric problems and cognitive level, to estimate the size of the CTG expansion, and to correlate the molecular findings with the neuropsychiatric problems. Fifty-seven children and adolescents (26 females; 31 males) with DM1 (CTG repeats > 40) were included in the study. The following instruments were used: Autism Diagnostic Interview-Revised (ADI-R), 5-15, Griffiths Mental Development Scales, and the Wechsler Scales. Based on age at onset and presenting symptoms, the children were divided into four DM1 groups; severe congenital (n = 19), mild congenital (n = 18), childhood (n = 18), and classical DM1 (n = 2). Forty-nine percent had an autism spectrum disorder (ASD) and autistic disorder was the most common diagnosis present in 35% of the subjects. Eighty-six percent of the individuals with DM1 had mental retardation (MR), most of them moderate or severe MR. ASD was significantly correlated with the DM1 form; the more severe the form of DM1, the higher the frequency of ASD. The frequency of ASD increased with increasing CTG repeat expansions. ASD and/or other neuropsychiatric disorders such as attention deficit hyperactivity disorder, and Tourette's disorder were found in 54% of the total DM1. group. In conclusion, awareness of ASD comorbidity in DM1. is essential. Further studies are warranted to elucidate the molecular etiology causing neurodevelopmental symptoms such as ASD and MR in DM1. (c) 2008 Wiley-Liss, Inc. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
ADI-R, neuropsychiatry, mental retardation, genetics, adolescence
in
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
volume
147B
issue
6
pages
918 - 926
publisher
International Society of Psychiatric Genetics
external identifiers
  • wos:000259050100034
  • scopus:51449093262
ISSN
1552-4841
DOI
10.1002/ajmg.b.30698
language
English
LU publication?
yes
id
660d4cb9-d8a6-4a80-9732-0fd31d71877e (old id 1247132)
date added to LUP
2008-11-12 11:43:27
date last changed
2017-08-27 04:13:58
@article{660d4cb9-d8a6-4a80-9732-0fd31d71877e,
  abstract     = {Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene. The aims of the present study were to classify a cohort of children with DM1, to describe their neuropsychiatric problems and cognitive level, to estimate the size of the CTG expansion, and to correlate the molecular findings with the neuropsychiatric problems. Fifty-seven children and adolescents (26 females; 31 males) with DM1 (CTG repeats > 40) were included in the study. The following instruments were used: Autism Diagnostic Interview-Revised (ADI-R), 5-15, Griffiths Mental Development Scales, and the Wechsler Scales. Based on age at onset and presenting symptoms, the children were divided into four DM1 groups; severe congenital (n = 19), mild congenital (n = 18), childhood (n = 18), and classical DM1 (n = 2). Forty-nine percent had an autism spectrum disorder (ASD) and autistic disorder was the most common diagnosis present in 35% of the subjects. Eighty-six percent of the individuals with DM1 had mental retardation (MR), most of them moderate or severe MR. ASD was significantly correlated with the DM1 form; the more severe the form of DM1, the higher the frequency of ASD. The frequency of ASD increased with increasing CTG repeat expansions. ASD and/or other neuropsychiatric disorders such as attention deficit hyperactivity disorder, and Tourette's disorder were found in 54% of the total DM1. group. In conclusion, awareness of ASD comorbidity in DM1. is essential. Further studies are warranted to elucidate the molecular etiology causing neurodevelopmental symptoms such as ASD and MR in DM1. (c) 2008 Wiley-Liss, Inc.},
  author       = {Ekstrom, Anne-Berit and Hakenas-Plate, Louise and Samuelsson, Lena and Tulinius, Mar and Wentz, Elisabet},
  issn         = {1552-4841},
  keyword      = {ADI-R,neuropsychiatry,mental retardation,genetics,adolescence},
  language     = {eng},
  number       = {6},
  pages        = {918--926},
  publisher    = {International Society of Psychiatric Genetics},
  series       = {American Journal of Medical Genetics Part B: Neuropsychiatric Genetics},
  title        = {Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms},
  url          = {http://dx.doi.org/10.1002/ajmg.b.30698},
  volume       = {147B},
  year         = {2008},
}