title: Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.
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.
authors.affiliation: Department of Pediatrics, Northern Alvsborg County Hospital, Trollhättan, Sweden. anne-berit.ekstrom@vgregion.se
authors.forename: Anne-Berit
authors.initials: AB
authors.lastname: Ekström
authors.forename: Louise
authors.initials: L
authors.lastname: Hakenäs-Plate
authors.forename: Lena
authors.initials: L
authors.lastname: Samuelsson
authors.forename: Már
authors.initials: M
authors.lastname: Tulinius
authors.forename: Elisabet
authors.initials: E
authors.lastname: Wentz
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000465:Algorithms; D001321:Autistic Disorder / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D005260:Female; D006801:Humans; D040582:Inheritance Patterns; D007360:Intelligence / Q000235:genetics / Q000502:physiology; D008297:Male; D001523:Mental Disorders / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D008606:Mental Processes / Q000502:physiology; D020967:Myotonic Disorders / Q000151:congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000502:physiology
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases