ABSTRACT
The associations between serum vitamin D levels and the severity of attention-deficit/hyperactivity disorder (ADHD) symptoms were assessed among Iranian hospitalized children (50 ADHD cases and 50 healthy (non-ADHD) controls) during 2014-2015. Levels of ADHD severity and serum 25-hydroxyvitamin D (25OHD) were determined by the Conners' Parent Rating Scale (CPRS) test and an ELISA kit, respectively. The serum 25OHD concentrations of <10, 10-29, and >30 ng/mL were respectively considered as deficient (severe deficiency), insufficient (mild deficiency), and sufficient levels of vitamin D. The association of nutrient bioavailability with ADHD was evaluated by statistical and regression analyses.There was no significant difference in the mean of socio-demographic variables (e.g., gender, age, weight, BMI, daily intake of dairy products, and daily sunlight exposure) between ADHD and non-ADHD subjects. The mean serum 25OHD concentration (16.57 ± 9.09 ng/mL) was found to be significantly lower in ADHD children with more parathyroid hormone (PTH) levels as compared to controls (22.01 ± 12.67ng/mL). The sufficient 25OHD concentration was more predominant in the controls than the cases (p = 0.002). A severe deficiency of vitamin D was more found in children with ADHD (3.36 times). There was a negative and significant association between the participants' age and their serum 25OHD levels. Although 25OHD levels in boys were significantly more than those in girls, the reduction of serum 25OHD concentration among boys with ADHD was more severe compared to the patient girls(p = 0.014). The results support the importance of vitamins D role in ADHD patients through the regular monitoring of serum 25OHD levels.
Subject(s)
Attention Deficit Disorder with Hyperactivity/blood , Vitamin D Deficiency/blood , Attention Deficit Disorder with Hyperactivity/complications , Case-Control Studies , Child , Female , Humans , Iran , MaleABSTRACT
BACKGROUND: Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recurrent ID or multiple congenital anomalies, this study was designed to evaluate whether it was justified to investigate such aberrations in familial ID patients. Three hundred and twenty eight patients from 101 unrelated Iranian families with more than two ID patients in the first-degree relatives, have been investigated. Assessment of a panel of 21 common Microdeletion and Microduplication syndromes (CMMS) was carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. RESULTS: Among the families studied, 27.7% had 4-12, 35.6% had 3 and 36.6% had 2 affected individuals in the first-degree relatives. An autosomal dominant inheritance of Williams-Beuren syndrome (WBS) was detected in a family with no clinical suspicion of WBS. The prevalence of CMMS was therefore,0.99%. CONCLUSION: This is the first investigation of a panel of CMMS in a large sample set of "familial ID patients". The findings of this study showed the low prevalence of CMMSs in "familial ID" patients in spite of the significant contribution of such aberrations in "sporadic ID" which has a very useful practical impact by avoiding unnecessary diagnostic tests in "familial ID" patients.
ABSTRACT
BACKGROUND: Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the contribution of subtelomeric aberrations in familial ID would be much more than the sporadic ones. Three hundred and twenty two patients from 102 unrelated families with more than two ID patients in the first degree relatives have been investigated. Assessment of subtelomeric rearrangements were carried out using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique. Detected aberrations were then confirmed by Fluorescence in Situ Hybridization (FISH) method. RESULTS: Among the families studied, 27.4% had 4-12, 36.3% had 3 and 36.3% had 2 affected individuals in the first degree relatives. One unbalanced translocation and 4 polymorphic changes were detected. The prevalence of clinically significant subtelomeric rearrangements was 0.98%. CONCLUSION: This is the first investigation of subtelomeric aberrations in a large sample set of familial ID patients. Our results show that the contribution of subtelomeric rearrangements to familial ID is not as much as what had been determined for sporadic ones in the literature. Moreover, this study shows that the positive family history by alone, cannot be the most important and determining indicator of subtelomeric aberrations while it would be a good predicting factor when associated with dysmorphism or congenital malformations. These findings propose that other cryptic chromosomal abnormalities or even single gene disorders may be the main cause of familial ID rather than subtelomeric aberrations.
