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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

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Minerva Pediatrica 2003 June;55(3):267-76


language: English, Italian

Psychopathological assessment in children affected by Duchenne de Boulogne muscular dystrophy

Roccella M., Pace R., De Gregorio M. T.


Background. Several studies on the intelligence of children suffering from Duchenne muscular dystrophy (DMD) found impairments in linguistic functions, memory and affective development. Memory deficit mainly involves long-term memory; short-term memory impairment was also present, even if less frequently. Some studies tried to establish a correlation between the distal deletion of the dystrophin gene and low intelligence levels.
Methods. The present study investigated the cognitive, emotional and relational states in a group of DMD children. The patients were selected on the basis of physical examination, muscle biopsy, histochemical analysis, genetic testing, regular schooling. Molecular genetic testing detected a deletion in 2 high frequency deletion regions in all subjects. The following psychodiagnostic tests were used for assessment: WISC-R, Spontaneous Drawing, Draw-A-Person test, Family Drawing, Thematic Apperception test and Rorschach test.
Results. No impairment of the intellectual function was detected in the group of children we examined; only 2 subjects had a total IQ below average. Instead, psychic disorders were detected such as proneness to isolation, self-depreciation, past experiences of marginalization, minor depressive symptoms, insecurity signs, hypochondriac worries and high level of anxiety. In addition children exhibited poor adaptation to the environment and labile affectivity, scarcely controlled by the higher conscious levels.
Conclusions. These disorders are often a dynamic prolongation of a psychological process starting when the diagnosis is made and continuing in a slow and latent fashion throughout the evolution of the disease.

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