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 language | English |
|---|---|
| Pages (from-to) | 639-647 |
| Number of pages | 9 |
| Journal | European Journal of Paediatric Neurology |
| Volume | 21 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Jul 1 2017 |
Fingerprint
Keywords
- ADOS
- CBCL
- DAWBA
- Developmental psychopathology
- Duchenne muscular dystrophy (DMD)
- SDQ
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Assessing mental health in boys with Duchenne muscular dystrophy : Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample. / Colombo, Paola; Nobile, Maria; Tesei, Alessandra; Civati, Federica; Gandossini, Sandra; Mani, Elisa; Molteni, Massimo; Bresolin, Nereo; D'Angelo, Grazia.
In: European Journal of Paediatric Neurology, Vol. 21, No. 4, 01.07.2017, p. 639-647.Research output: Contribution to journal › Article
}
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
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
KW - Developmental psychopathology
KW - Duchenne muscular dystrophy (DMD)
KW - SDQ
UR - http://www.scopus.com/inward/record.url?scp=85017147612&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85017147612&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2017.02.007
DO - 10.1016/j.ejpn.2017.02.007
M3 - Article
AN - SCOPUS:85017147612
VL - 21
SP - 639
EP - 647
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 4
ER -