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

Research output: Contribution to journalArticle

6 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 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

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Genotype
  • Humans
  • Intelligence Tests
  • Male
  • Mental Health
  • Muscular Dystrophy, Duchenne
  • Mutation
  • Neurodevelopmental Disorders
  • Wechsler Scales
  • Journal Article

Cite this

@article{81085829ab8549ba85104b21ffbf5711,
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 = "Adolescent, Child, Child, Preschool, Female, Genotype, Humans, Intelligence Tests, Male, Mental Health, Muscular Dystrophy, Duchenne, Mutation, Neurodevelopmental Disorders, Wechsler Scales, Journal Article",
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",
note = "Copyright {\circledC} 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.",
year = "2017",
month = "7",
doi = "10.1016/j.ejpn.2017.02.007",
language = "English",
volume = "21",
pages = "639--647",
journal = "European Journal of Paediatric Neurology",
issn = "1090-3798",
publisher = "W.B. Saunders Ltd",
number = "4",

}

TY - JOUR

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

N1 - Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

PY - 2017/7

Y1 - 2017/7

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 - Adolescent

KW - Child

KW - Child, Preschool

KW - Female

KW - Genotype

KW - Humans

KW - Intelligence Tests

KW - Male

KW - Mental Health

KW - Muscular Dystrophy, Duchenne

KW - Mutation

KW - Neurodevelopmental Disorders

KW - Wechsler Scales

KW - Journal Article

U2 - 10.1016/j.ejpn.2017.02.007

DO - 10.1016/j.ejpn.2017.02.007

M3 - Article

C2 - 28392227

VL - 21

SP - 639

EP - 647

JO - European Journal of Paediatric Neurology

JF - European Journal of Paediatric Neurology

SN - 1090-3798

IS - 4

ER -