Paola Colombo1, Maria Nobile2, Alessandra Tesei1, Federica Civati3, Sandra Gandossini3, Elisa Mani1, Massimo Molteni1, Nereo Bresolin4, Grazia D'Angelo3. 1. Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy. 2. Child Psychopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy. Electronic address: maria.nobile4@gmail.com. 3. Neuromuscular Unit, Department of Neurorehabilitation, Scientific Institute, IRCCS Eugenio Medea, Via Don Luigi Monza 20, Bosisio Parini, Lecco, Italy. 4. Department of Neurology, Fondazione Policlinico-Mangiagalli-Regina Elena, Istituto di Ricerca e Cura a Carattere Scientifico Ospedale Maggiore, University of Milan, Milan, Italy.
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. METHOD: 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. CONCLUSION: 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.
OBJECTIVE: To evaluate through a comprehensive protocol, the psychopathological profile of DMDboys. 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. METHOD: 47 DMDboys, 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. CONCLUSION: 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.
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