title: Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy.
abstract: Myotonic dystrophy type 1 (DM1) is the most frequent inherited neuromuscular disorder. The juvenile form has been associated with cognitive and psychiatric dysfunction, but the phenotype remains unclear. We reviewed the literature to examine the psychiatric phenotype of juvenile DM1 and performed an admixture analysis of the IQ distribution of our own patients, as we hypothesised a bimodal distribution. Two-thirds of the patients had at least one DSM-IV diagnosis, mainly attention deficit/hyperactivity disorder and anxiety disorder. Two-thirds had learning disabilities comorbid with mental retardation on one hand, but also attention deficit, low cognitive speed and visual spatial impairment on the other. IQ showed a bi-modal distribution and was associated with parental transmission. The psychiatric phenotype in juvenile DM1 is complex. We distinguished two different phenotypic subtypes: one group characterised by mental retardation, severe developmental delay and maternal transmission; and another group characterised by borderline full scale IQ, subnormal development and paternal transmission.
authors: Département de Psychiatrie de l'Enfant et de l'Adolescent, Université Pierre et Marie Curie, AP-HP, Hôpital Pitié-Salpêtrière, 47-83, Boulevard de l'Hôpital, 75651 Paris Cedex 13, France. marie.douniol@psl.aphp.fr
authors: Marie
authors: M
authors: Douniol
authors: Aurélia
authors: A
authors: Jacquette
authors: Jean-Marc
authors: JM
authors: Guilé
authors: Marie-Laure
authors: ML
authors: Tanguy
authors: Nathalie
authors: N
authors: Angeard
authors: Delphine
authors: D
authors: Héron
authors: Monique
authors: M
authors: Plaza
authors: David
authors: D
authors: Cohen
mesh_terms: D000293:Adolescent; D001008:Anxiety Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics / Q000523:psychology*; D002648:Child; D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D002675:Child, Preschool; D015897:Comorbidity; D003866:Depressive Disorder / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D005260:Female; D006580:Genetic Carrier Screening; D005838:Genotype; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000523:psychology*; D007360:Intelligence / Q000235:genetics*; D007389:Internal-External Control; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics / Q000523:psychology*; D010641:Phenotype; D016728:Self-Injurious Behavior / Q000235:genetics / Q000523:psychology; D055815:Young Adult