title: Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.
abstract: OBJECTIVE
  To evaluate through a comprehensive protocol, the psychopathological profile of DMD boys. The primary aim of this observational study was to describe the emotional and behavioural profile and the neurodevelopmental problems of Italian boys with Duchenne Muscular Dystrophy (DMD); the secondary aim was to explore the relation between psychopathological profile and DMD genotype.
  
  
  METHODS
  47 DMD boys, aged 2-18, were included in the study and assessed through structured and validated tools including Wechsler scales or Griffiths for cognitive ability, Child Behavior Check List (CBCL), Youth Self Report (YSR) and Strengths and Difficulties Questionnaire (SDQ) for emotional and behavioural features. Patients "at risk" based on questionnaires scores were evaluated by a clinical structured interview using Development and Well Being Assessment (DAWBA) or Autism Diagnostic Observation Schedule (ADOS), as required.
  
  
  RESULTS
  The 47 enrolled patients, defined with a Full Scale Intelligence Quotient (FSIQ) of 80.38 (one SD below average), and presenting a large and significant difference in FSIQ in relation to the site of mutation along the dystrophin gene (distal mutations associated with a more severe cognitive deficit), were showing Internalizing Problems (23.4%) and Autism Spectrum Disorders (14.8%). Interestingly, an association of internalizing problems with distal deletion of the DMD gene is documented.
  
  
  CONCLUSIONS
  Even though preliminary, these data show that the use of validated clinical instruments, that focus on the impact of emotional/behaviour problems on everyday life, allows to carefully identify clinically significant psychopathology.
authors.affiliation: Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Colombo
authors.affiliation: Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy. Electronic address: maria.nobile4@gmail.com.
authors.forename: Maria
authors.initials: M
authors.lastname: Nobile
authors.affiliation: Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tesei
authors.affiliation: Neuromuscular Unit, Department of Neurorehabilitation, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Civati
authors.affiliation: Neuromuscular Unit, Department of Neurorehabilitation, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Sandra
authors.initials: S
authors.lastname: Gandossini
authors.affiliation: Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Mani
authors.affiliation: Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Massimo
authors.initials: M
authors.lastname: Molteni
authors.affiliation: Department of Neurology, Fondazione Policlinico-Mangiagalli-Regina Elena, Istituto di Ricerca e Cura a Carattere Scientifico Ospedale Maggiore, University of Milan, Milan, Italy.
authors.forename: Nereo
authors.initials: N
authors.lastname: Bresolin
authors.affiliation: Neuromuscular Unit, Department of Neurorehabilitation, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy.
authors.forename: Grazia
authors.initials: G
authors.lastname: D'Angelo
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007361:Intelligence Tests; D008297:Male; D008603:Mental Health; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000235:genetics / Q000523:psychology*; D009154:Mutation; D065886:Neurodevelopmental Disorders / Q000453:epidemiology* / Q000209:etiology*; D014888:Wechsler Scales
keywords: ADOS; CBCL; DAWBA; Developmental psychopathology; Duchenne muscular dystrophy (DMD); SDQ