title: Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1.
abstract: OBJECTIVE
  To investigate the psychiatric and cognitive phenotype in young individuals with the childhood form of myotonic dystrophy type 1 (DM1).
  
  
  METHODS
  Twenty-eight individuals (15 females, 13 males) with childhood DM1 (mean age 17y, SD 4.6, range 7-24y) were assessed using standardized instruments and cognitive testing of general intelligence, visual attention, and visual-spatial construction abilities.
  
  
  RESULTS
  Nineteen patients had repeated a school grade. The mean (SD) Full-scale IQ was 73.6 (17.5) and mean Verbal IQ was significantly higher than the mean Performance IQ: 80.2 (19.22) versus 72.95 (15.58), p=0.01. Fifteen patients had one or more diagnoses on the DSM-IV axis 1, including internalizing disorders (phobia, n=7; mood disorder, n=6; other anxiety disorders, n=5) and attention-deficit-hyperactivity disorder, inattentive subtype (n=8). Twelve out of 22 patients had alexithymia (inability to express feelings with words and to recognize and share emotional states). Cognitive testing found severe impairments in visual attention and visual-spatial construction abilities in four out of 18, and 14 out of 24 patients respectively. No diagnosis was correlated with the transmitting parent's sex or with cytosine-thymine-guanine (CTG) repeat numbers. Patients with severe visual-spatial construction disabilities had a significantly longer CTG expansion size than those with normal visual-spatial abilities (p=0.04).
  
  
  CONCLUSIONS
  Children and adolescents with childhood DM1 have frequent diagnoses on DSM-IV axis 1, with internalizing disorders being the most common type of disorder. They also have borderline low intelligence and frequent impairments in attention and visual-spatial construction abilities.
authors.affiliation: Department of Child and Adolescent Psychiatry, Groupe-Hospitalier Pitié-Salpêtrièr, Paris, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Douniol
authors.forename: Aurélia
authors.initials: A
authors.lastname: Jacquette
authors.forename: David
authors.initials: D
authors.lastname: Cohen
authors.forename: Nicolas
authors.initials: N
authors.lastname: Bodeau
authors.forename: Linda
authors.initials: L
authors.lastname: Rachidi
authors.forename: Nathalie
authors.initials: N
authors.lastname: Angeard
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Louis
authors.initials: L
authors.lastname: Vallée
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Monique
authors.initials: M
authors.lastname: Plaza
authors.forename: Delphine
authors.initials: D
authors.lastname: Héron
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Guilé
mesh_terms: D000293:Adolescent; D001288:Attention; D002648:Child; D003072:Cognition Disorders / Q000175:diagnosis* / Q000235:genetics*; D015897:Comorbidity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis* / Q000235:genetics*; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000235:genetics*; D010364:Pattern Recognition, Visual; D010641:Phenotype; D011597:Psychomotor Performance; D019680:Trinucleotide Repeat Expansion / Q000235:genetics; D055815:Young Adult