Evaluation of development with ages and stages questionnarie in children with duchenne muscular dystrophy aged 12-60 months

AIM: Duchenne Muscular Dystrophy is a neuromuscular disease that develops due to mutations in the dystrophin gene, is inherited as an X-linked recessive, progresses with progressive muscle weakness and can cause death due to heart and respiratory failure at an early age. It has been shown that this disease can also cause many neuropsychiatric disorders. Our aim in this study is to evaluate whether the developmental disorders in these patients are related to their genotypes. Materials and Methods: In this study, Ages and Stages Questionnarie, a developmental screening test that has been validated in Turkey, was used to evaluate patients for developmental disorders. This inventory consists of 5 main headings with 6-7 questions in each section, where communication, gross motor, fine motor, problem solving and personal-social development are evaluated. The patients were scored according to the answers received from their caregivers, and their development was evaluated as normal or retarded according to the separate cut-off score of each section. Mean, standard deviation, median, lowest, highest, frequency and ratio values were used in the descriptive statistics of the data. The distribution of variables was measured with the Kolmogorov Simirnov test. Mann-Whitney u test was used to analyze quantitative independent data. Chi-square test was used in the analysis of qualitative independent data, and Fischer test was used when chi-square test conditions were not met. SPSS 28.0 program was used in the analysis. Results: 59 male DMD patients were included in our study. The average age of the patients participating in the study was 40.6 ± 12.5 (12-60 months) months. The parents of 94.9% of the patients were not related. When we look at genetic tests, 88.1% were diagnosed with the Multiplex Ligation-Based Probe Amplification (MLPA) method, 8.5% were diagnosed with Next Generation Sequencing, and 3.4% were diagnosed with Sanger Sequence Analysis. While deletion was detected in 76.3% of these patients, duplication was detected in 10.2%, missense point mutation was detected in 10.2%, and nonsense point mutation was detected in 3.4%. Among all patients, it was observed that 33.9% of the patients failed the test in the communication area, 54.2% in the gross motor area, 33.9% in the fine motor area, 32.2% in the problem solving area, and 27.1% in the personal-social area. It was observed that the rate of patients with pre-exon 45 mutations was 26.9% in the communication domain, 46.2% in the gross motor domain, 26.9% in the fine motor domain, 26.9% in the problem solving domain, and 30.8% in the personal-social domain. It was observed that the rate of patients with exon 45 and later mutations was 39.4% in the communication area, 60.6% in the gross motor area, 39.4% in the fine motor area, 36.4% in the problem solving area, and 24.2% in the personal-social area. When we compared the patients with pre-Exon 45 and post-Exon 45 mutations in terms of development, there was no statistically significant difference. Conclusion: DMD patients are in a more developmentally risky position than the normal population. The development of all DMD patients should be monitored more closely, regardless of the location of the mutation in the dystrophin gene. At the same time, DMD disease should definitely be considered in children who are behind in their developmental stages. Key Words: Duchenne, Development, Dystrophin, Mutation