Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample

Paola Colombo, Maria Nobile, Alessandra Tesei, Federica Civati, Sandra Gandossini, Elisa Mani, Massimo Molteni, Nereo Bresolin, Grazia D'Angelo

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)639-647
Number of pages9
JournalEuropean Journal of Paediatric Neurology
Volume21
Issue number4
DOIs
Publication statusPublished - Jul 1 2017

Fingerprint

Duchenne Muscular Dystrophy
Mental Health
Intelligence
Wechsler Scales
Dystrophin
Mutation
Aptitude
Child Behavior
Autistic Disorder
Psychopathology
Self Report
Genes
Observational Studies
Appointments and Schedules
Genotype
Observation
Interviews

Keywords

  • ADOS
  • CBCL
  • DAWBA
  • Developmental psychopathology
  • Duchenne muscular dystrophy (DMD)
  • SDQ

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

@article{53b52725638b42db8d47569ee024882e,
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. 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.",
keywords = "ADOS, CBCL, DAWBA, Developmental psychopathology, Duchenne muscular dystrophy (DMD), SDQ",
author = "Paola Colombo and Maria Nobile and Alessandra Tesei and Federica Civati and Sandra Gandossini and Elisa Mani and Massimo Molteni and Nereo Bresolin and Grazia D'Angelo",
year = "2017",
month = "7",
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doi = "10.1016/j.ejpn.2017.02.007",
language = "English",
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T1 - Assessing mental health in boys with Duchenne muscular dystrophy

T2 - Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample

AU - Colombo, Paola

AU - Nobile, Maria

AU - Tesei, Alessandra

AU - Civati, Federica

AU - Gandossini, Sandra

AU - Mani, Elisa

AU - Molteni, Massimo

AU - Bresolin, Nereo

AU - D'Angelo, Grazia

PY - 2017/7/1

Y1 - 2017/7/1

N2 - 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.

AB - 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.

KW - ADOS

KW - CBCL

KW - DAWBA

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KW - Duchenne muscular dystrophy (DMD)

KW - SDQ

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