Balkan Journal of Medical Genetics

INTELLECTUAL ABILITY IN THE DUCHENNE MUSCULAR DYSTROPHY AND DYSTROPHIN GENE MUTATION LOCATION
Milic Rasic V1,2,*, Vojinovic D1, Pesovic J3, Mijalkovic G1, Lukic V1, Mladenovic J1, Kosac A1, Novakovic I4, Maksimovic N4, Romac S3, Todorovic S1, Savic Pavicevic D3
*Corresponding Author: Vedrana Milic Rasic, M.D., Ph.D., Clinic for Neurology and Psychiatry for Children and Youth, Dr. Subotica 6A, 11000 Belgrade, Serbia. Tel: +381-11-265-8355. Fax: +381-11-264-5064. E-mail: vedrana.milic.npk@gmail.com
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RESULTS

Clinical and Genetic Characteristics. Fortyone patients with genetically confirmed deletion or duplication in the DMD gene and cognitive status assessment were recruited at the Clinic for Neurology and Psychiatry for Children and Youth in Belgrade, Serbia. All affected patients were males, aged 3 to 16 (8.34 ± 2.56) years. Deletions were confirmed in 37 patients (90.24%), while duplications were identified in four patients (9.75%). The identified deletions and duplications, description of the mutations at cDNA and protein level, mutation effect on reading frame, as well as dystrophin isoforms impaired by mutation, the age at the onset of disease, the age at psychological testing and data of the psychological exploration are shown in Table 1. Although patients with in-frame mutations could express milder phenotypes, all our patients with in-frame mutations developed a DMD phenotype: one patient showed delayed psychomotor development and was wheelchair-bound at the age of 10 (ID 28), the second had the onset of the disease at the age of 3.5 years and developed positive Gowers sign at the age of 7 (ID 5), and two boys, the youngest one (IDs 2 and 38), expressed initial signs of motor decline at the age of 6. The FSIQ was estimated for 37 participants, DQ was estimated for two patients, while SQ was assessed for two patients. The patients with estimated DQ and SQ were excluded from statistical analysis and they are described separately (Table 2). General intelligence evaluation of the analyzed population demonstrated statistically significant difference from population normative values (t = –4.024, p = 0.00015). The FSIQ with mean of 87.57 (SD 18.79) had a broad range of values between 44.0 and 118.0. Thirteen patients (35.14%) had FSIQ lower than 85, of whom six patients (16.22%) had borderline intelligence levels (70

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