The results of our study indicate that associated psychiatric disorders are frequent with specific learning disorder. Specific learning disorder should not be considered as a single disorder, but should be assessed and treated with comorbid psychiatric disorders.
OBJECTIVES:To evaluate the satisfaction with life among mothers of pediatric cochlear implant candidates regarding implant surgery and sociodemographic factors. MATERIALS and METHODS:Mothers of 160 pediatric patients with profound sensorineural hearing loss who underwent unilateral cochlear implant surgery were included. A questionnaire form with items on sociodemographic-familial characteristics and Satisfaction with Life Scale (SWLS) was employed via face-to-face interview method before and 12 months after the implant surgery. RESULTS:The SWLS scores significantly improved after the implant surgery [from 19.1 (7.0) to 28.9 (4.0), p<0.000]. Being unemployed vs. employed [17.9 (6.9) vs. 24.0 (5.3), p=0.000], having another child with hearing disability [13.5 (5.7) vs. 19.7 (6.9), p=0.001], younger (12-24 months) vs. older (>24 months) age of the child at the time of implant surgery [7.1 (0.4) vs. 19.7 (6.6), p=0.001], absence vs. presence of regular follow-up visits [13.0 (0.0) vs. 19.4 (7.1), p=0.002], and presence vs. absence of change in social life after the diagnosis of disease [17.3 (6.5) vs. 20.9 (7.1), p=0.001] were associated with significantly lower SWLS scores among mothers. SWLS scores were positively correlated with patient's age at the time of implant surgery (r=0.206, p=0.009), whereas negatively correlated with the number of household members (r=−0.406, p=0.000) and number of children (r=−0.310, p=0.000). CONCLUSION:In conclusion, our findings revealed the association of cochlear implantation with a significant increase in mother's life satisfaction, despite the unemployment, presence of another child with hearing disability, and crowded household. Our findings emphasize on the consideration of family systems with special attention to mother's emotional experiences and occupational competence in the intervention programs.
The development of whole-genome screening methodologies for the detection of copy number variations (CNVs), such as array-based comparative genomic hybridization (aCHG), provides a much higher resolution than karyotyping leading to the identification of novel microdeletion and microduplication syndromes often associated with an autism spectrum disease (ASD) phenotype. The aim of the study was to determine CNVs of patients with ASD by using array-based comparative genomic hybridization.Methods: Fifty-three patients diagnosed with ASD between 20.01.2014 and 14.01.2015 were included in the study. Chromosome analysis of the patients was performed from peripheral blood cultures and analysed as normal. All patients were evaluated with P064C1 and P096A2 MLPA probes in terms of 16 mental retardation related syndromes. For aCGH method, SurePrint G3 Human microarrays 8x60K were used with genomic DNA isolated from peripheral blood.Results: According to results of 53 patients who were included in and performed with arrayCGH, 8 (15%) patients had CNVs classified as pathogenic or variant of unknown significance (VOUS) in the study. We detected a pathogenic NRXN1 gene partial CNV deletion (2p16.3) in two patients. Also we identified a 900 kb duplication of 4p15.31 including SLIT2 gene, and a 245 kb duplication of 15q11.2 including PWRN1 gene in one patient. Our other findings are considered to be a variant of unknown significance (VOUS). Conclusion:The results of the study support the literature knowledge, where the copy number variations that cannot be detected with conventional cytogenetics methods in terms of size may happen in patients with ASD.
Attention-deficit hyperactivity disorder (ADHD) is common neuropsychiatric disorder in children and adults. Sleep disorders and restless legs are related to the presence of ADHD.Wynchank et al. 1 have recently reported in the Journal of Clinical Sleep Medicine the results of a large survey of adults. The authors found that within the group with clinically relevant ADHD symptoms, 43% reported significant insomnia symptoms and 41% reported short sleep duration. A consensus group recently implicated arousal dysregulation in the pathological mechanism of attention in ADHD. 2 In this context, this letter is a plea to investigators in this journal to evaluate the association between enhanced lowgrade inflammation, sleep disorders, and ADHD. This mechanism has been proposed by the investigators of the Turkish Adult Risk Factor (TARF) study to underlie diverse chronic diseases, 3 including type 2 diabetes, coronary heart disease, chronic kidney disease, and rheumatic diseases. It postulates that in individuals with proinflammatory state due to obesity or circulating excess oxidized phospholipid content of lipoprotein [Lp](a), 4 protective plasma proteins such as adiponectin 5 become converted to an inflammatory protein, with concomitant slower clearance of the protein from plasma. Some support for this notion having a potential relevance for ADHD may be derived from Li et al.'s study that reported nondiabetic men with restless legs syndrome (RLS) have a higher risk of early death. 6 Li et al. emphasized that the elevated mortality risk was not associated with the usual known risk factors but rather with endocrine, nutritional/metabolic, and immunological disorders. RLS may be another manifestation of the basic process of enhanced proinflammatory state and autoimmune activation. The TARF cohort revealed that metabolic syndrome, a constellation of proinflammatory state, was associated significantly with obstructive sleep apnea in nondiabetic individuals. 7 In summary, we believe that investigations directed to proinflammatory state may be fruitful to identify mechanisms underlying sleep disorders and ADHD.
AIM:To investigate whether maternal intravenous beta-mimetic tocolytic therapy increases the risk of autistic spectrum disorders (ASD) and poorer behavioural and developmental outcomes.METHOD:Our study is a prospective case-control study among 90 children between 1.5 and three years old. Cases (n = 46) were toddlers with betamimetic tocolytic exposure; control group toddlers (n = 44) were tocolytic untreated. Treated and untreated groups were also divided into subgroups: term and preterm delivered. The gestational age of tocolytic treatment start, the dose and duration of exposure in hours were obtained from obstetric medical records. The Brief Infant-Toddler Social and Emotional Assessment (BITSEA), the Modified Checklist for Autism in Toddlers (M-CHAT) and the Denver Developmental Screening Test (DDST) tests were applied for evaluation of social, emotional problems, autism and developmental disorders.RESULTS:Term and preterm born toddlers treated tocolytically in utero didn’t demonstrate a higher risk of autistic disorders or poorer behavioural and developmental results than controls. In the preterm group, the earliest start of tocolytic treatment was correlated with toddlers lower score of the Competencies Scale (p = 0.009) and a higher score of the Problems Scale (p = 0.048). Also, we concluded that preterm membrane rupture was associated with higher ASD risk in the untreated group (p = 0.043).CONCLUSION:Exposure to betamimetics during pregnancy was not associated with an increased risk of autism, behavioural and developmental disorders.
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