{
  "abstract": "Background Over the last few years, there has been increasing attention to the involvement of the central nervous system in Duchenne muscular dystrophy (DMD). The aim of this study was to assess the spectrum of neurodevelopmental and mental disorders and possible required intervention in our cohort of 264 boys and adults with DMD.Methods We retrospectively analysed clinical notes and psychological assessments, including routinely performed cognitive tests and clinical observations. Intelligence quotients and site of mutations were also noted.Results 103/264 individuals (39%) had symptoms compatible with one of the following diagnoses: attention deficit hyperactivity disorder (ADHD) (n=26), autism spectrum disorder (ASD) (n=11), depressive mood/disruptive mood dysregulation disorder (n=27), anxiety disorder (n=17), obsessive-compulsive disorder (n=2), psychosis risk syndrome (n=7), and 13 had a more complex phenotype. ADHD and ASD were more frequent in infancy, emotional dysregulation during early adolescence, and psychosis and more severe phobias in older boys and adults. The risk of developing these disorders did not increase with the concomitant involvement of the dystrophin isoforms Dp140 and Dp71. Pharmacological treatment was suggested for 48 individuals but was started only in 24, as it was refused by the remaining 24 families.Conclusions Our findings confirm that neurodevelopmental and mental disorders are common in DMD and are likely to have a multifactorial nature. These findings support the need for disease-specific assessments and the need to increase awareness of the possible behavioural and social difficulties among families and healthcare professionals.",
  "authors": [
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"
      ],
      "name": "Claudia Brogna"
    },
    {
      "affiliations": [
        "Clinical Psychology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"
      ],
      "name": "Federica Moriconi"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Anna Capasso"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Chiara Arpaia"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Gianpaolo Cicala"
    },
    {
      "affiliations": [
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Martina Ricci"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"
      ],
      "name": "Marianna Villa"
    },
    {
      "affiliations": [
        "Clinical Psychology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy"
      ],
      "name": "Monia Pellizzari"
    },
    {
      "affiliations": [
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Alessia De Gioia"
    },
    {
      "affiliations": [
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Marco Turano"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Giorgia Coratti"
    },
    {
      "affiliations": [
        "Department of Psychiatry, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Section of Psychiatry, Università Cattolica del Sacro Cuore, Rome, Italy"
      ],
      "name": "Delfina Janiri"
    },
    {
      "affiliations": [
        "Department of Psychiatry, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Section of Psychiatry, Università Cattolica del Sacro Cuore, Rome, Italy"
      ],
      "name": "Gabriele Sani"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Marika Pane"
    },
    {
      "affiliations": [
        "Clinical Psychology Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Daniela Pia Rosaria Chieffo"
    },
    {
      "affiliations": [
        "Child Neurology and Psychiatry Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy",
        "Pediatric Neurology, Catholic University of Sacred Heart, Rome, Italy"
      ],
      "name": "Eugenio Mercuri"
    }
  ],
  "title": "Identification and treatment of neurodevelopmental and mental disorders in boys and adults with Duchenne muscular dystrophy: a cohort study",
  "uid": "272eb412-6b42-5115-b941-83cb28402823"
}