Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive allelic muscle diseases caused by dystrophin gene mutations. Eight hundred thirty-seven patients admitted between 1997 and 2022 were included in the study. Two hundred twenty patients were analyzed by multiplex PCR (mPCR) alone. Five hundred ninety-five patients were investigated by multiplex ligation-dependent probe amplification (MLPA), and 54 patients were examined by sequencing. Deletion was detected in 60% (132/220) of the cases in the mPCR group only and in 58.3% (347/595) of the cases with MLPA analysis. The rates of deletion and duplication were 87.7% and 12.3%, respectively, in the MLPA analysis. Single exon deletions were the most common mutation type. The introns 43-55 (81.8%) and exons 2-21 (13.1%) regions were detected as hot spots in deletions. It was determined that 89% of the mutations were suitable for exon skipping therapy. The reading frame rule did not hold in 7.6% of D/BMD cases (17/224). We detected twenty-five pathogenic/likely pathogenic variants in sequencing, five of which were novel variants. Nonsense mutation was the most common small mutation (44%). 21% of DMD patients were familial. We detected germline mosaicism in four families (4.3%) in the large rearrangement group and one gonosomal mosaicism in a family with a nonsense mutation. This is the largest study examining genotype and phenotype data in Turkish D/BMD families investigated by MLPA analysis. The reading frame hypothesis is not valid in all cases. Sharing the genotype and phenotype characteristics of these cases in the literature will shed light on the molecular structure of DMD and guide gene therapy research. In genetic counseling, carrier screening in the family and possible gonadal mosaicism should be emphasized.

Comparisons of clinical subtypes, symptom severity, global functioning, emotional and behavior problems, and CPT test profiles in children and adolescents with ADHD with and without co-occurring internet gaming disorder.

OBJECTIVES: This study aims to assess whether the presence of Internet Gaming Disorder (IGD) is associated with disease severity, Attention Deficit Hyperactivity Disorder(ADHD) presentation, emotional problems, behavioral problems, and CPT profile in patients with ADHD. METHOD: Forty children with IGD and sixty-four patients without IGD were included in the study, all of whom had a diagnosis of ADHD. Comorbid psychiatric disorders were determined using The Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS). Conners's Parent Rating Scale-Revised Short form (CPRS-RS), The Strengths and Difficulties Questionnaire (SDQ), Internet Gaming Disorder Questionnaire (IGD-20), and MOXO Continuous Performance Test (MOXO d-CPT) were performed on the children, and Clinical Global Impression (CGI), Children's Global Assessment Scale (CGAS), comorbidities and ADHD presentations were evaluated. RESULTS: The IGD group was found to have the combined presentation of ADHD more commonly, and their CGI, CGAS, SDQ behavior problems subscale, cognitive problems, attention problems, and ADHD index in the CPRS-RS questionnaire were found to be higher (p < 0.05). No differences were found in attention, timing, impulsiveness, and hyperactivity scores in CPT between groups (p > 0.05). CONCLUSION: Our study has shown that children with both ADHD and IGD had more severe symptoms, more behavioral problems, and differences regarding the prevalence of the ADHD presentations when compared to children having ADHD without IGD. Longitudinal studies with higher sample sizes are required to investigate this possible connection in the context of a cause-effect relationship and draw a conclusion.

Maternal reactions to a child with epilepsy: Depression, anxiety, parental attitudes and family functions.

OBJECTIVE: The goal of this study was to investigate how the disease and treatment of epilepsy affected the psychological profile (depression and anxiety) of mothers whose children had epilepsy, as well as these mothers' attitudes towards their children and their family relationships. METHODS: Both the case and control groups consisted of 50 children and their mothers. All mothers were asked to complete the Beck Depression Inventory, State-Trait Anxiety Inventory, Parental Attitude Research Instrument and Family Assessment Device. RESULTS: Mothers whose children had epilepsy scored significantly higher in depression and state anxiety compared to the mothers of the control group. The mothers of children diagnosed with epilepsy also failed to develop supportive and friendly relationships with their children. In addition, these mothers scored significantly higher in the Attitude of Hostility and Rejection, Marital Discordance and Authoritarian Attitude as compared to the mothers of the control group. CONCLUSION: This cross-sectional study demonstrated that, for the mothers of children who had epilepsy, the illness might have an adverse effect on their lives and their family relationships.