Control Boys Research Articles

Alterations in Neural Activation During Facial Emotion Processing in Adolescent Male Participants With Klinefelter Syndrome.

Klinefelter syndrome (KS) is the most common sex-chromosome aneuploidy (47,XXY), affecting 1 in 500 male participants. The phenotype of male participants with KS includes both physical features, such as tall stature and testicular insufficiency, and behavioral alterations, including difficulties in social functioning, anxiety, and depression. Studies examining underlying neural alterations associated with the behavioral phenotype, however, are sparse. We aimed to address this gap in knowledge using functional magnetic resonance imaging in conjunction with an emotion processing paradigm. Functional magnetic resonance imaging was conducted on 38 children and adolescents with KS ( Mage = 12.85, SD = 2.45) and 47 typical developing (control) boys ( Mage = 12.04, SD = 1.82) as they completed a facial emotion processing task. Group differences in activation occurring during the processing of angry versus neutral faces were examined while controlling for age. The results indicated that relative to typically developing boys, boys with KS exhibited anomalous increases in activation of frontal, temporal, and occipital cortices. Within the KS group, secondary analyses indicated that greater activation in these regions was associated with more internalizing symptoms (e.g., anxiety, depression, withdrawn behaviors) and greater social impairments (e.g., social cognition, social communication, social motivation, social communication and interaction, functional communication). The findings from this study indicate a possible neural correlation for difficulties in social and emotional function in KS and add to a growing body of research aimed at increasing our understanding of neural biomarkers in this condition. Future studies that examine the influence of testosterone-replacement therapy on these differences are warranted.

Pengaruh Model PBL Terhadap Hasil Belajar dan Motivasi Belajar Siswa

This study aims to describe the effect of the PBL model on learning outcomes and student motivation in the flat-sided geometric material at SMPN 1 Jogoroto. Two classes of class VIII students were randomly selected to be divided into an experimental group and a control group to serve as research samples. The instruments used were tests and questionnaires. Inferential analysis will be used to test the data obtained from the control and experimental classes. The results showed that there was no significant effect of the PBL model on the learning outcomes and motivation of students at SMPN 1 Jogoroto in terms of gender, with the average learning outcomes and learning motivation of the experimental class students being higher than that of the control class students, both boys, and girls. This means that there is an influence of the PBL model on learning outcomes and student motivation. Keywords: PBL, learning outcomes, learning motivation

Cardiac Autonomic Balance Is Altered during the Acute Stress Response in Adolescent Major Depression-Effect of Sex.

Autonomic nervous system (ANS) abnormalities are associated with major depressive disorder (MDD) already at adolescent age. The majority of studies so far evaluated parasympathetic and sympathetic branches of ANS individually, although composite indices including cardiac autonomic balance (CAB) and cardiac autonomic regulation (CAR) seem to measure ANS functioning more comprehensively and thus could provide better psychopathologies' predictors. We aimed to study CAB and CAR derived from high-frequency bands of heart rate variability and left ventricular ejection time during complex stress response (rest-Go/NoGo task-recovery) in MDD adolescents with respect to sex. We examined 85 MDD adolescents (52 girls, age: 15.7 ± 0.14 yrs.) and 80 age- and sex-matched controls. The MDD group showed significantly reduced CAB compared to controls at rest, in response to the Go/NoGo task, and in the recovery phase. Moreover, while depressed boys showed significantly lower CAB at rest and in response to the Go/NoGo task compared to control boys, depressed girls showed no significant differences in evaluated parameters compared to control girls. This study for the first time evaluated CAB and CAR indices in drug-naïve first-episode diagnosed MDD adolescents during complex stress responses, indicating an altered cardiac autonomic pattern (i.e., reciprocal sympathetic dominance associated with parasympathetic underactivity), which was predominant for depressed boys.

Fingerprint patterns in relation to an altered neurodevelopment in patients with autism spectrum disorder

AbstractDermatoglyphic patterns are permanently established and matured before the 24th week of gestation. Their frequencies and localization might be a good indicator of developmental instability in individuals with an altered neurodevelopment and show potential as biomarkers of autism spectrum disorder (ASD). In this study, fingerprint pattern counts and fluctuating asymmetry in the distribution of patterns are compared between 67 boys diagnosed with ASD (aged 5.11 ± 2.51 years) and 83 control boys (aged 8.58 ± 3.14 years). Boys with ASD had a higher rate of discordance in their fingerprint patterns (p = .0026), showing more often bilateral differences in the occurrence of certain patterns. A chi‐square test revealed that the difference in pattern frequencies between boys with ASD and the control group is the most significant in frequencies of whorls, tented arches, and ulnar loops. Boys with ASD have significantly fewer ulnar loops, significantly more whorls, and tented arches in the right hand. The achieved results are in favor of the suggestion that prenatal influences, which play a role in the development of bilateral differences in fingerprint patterns up to the 24th week of gestation, may be a potential cause of an altered neurodevelopment in ASD individuals.

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis

Although 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) deficiency is diagnosed when a testosterone/androstenedione (T/A-dione) ratio after human chorionic gonadotropin (hCG) stimulation is below 0.8, this cut-off value is primarily based on hormonal data measured by conventional immunoassay (IA) in patients with feminized or ambiguous genitalia. We examined two 46,XY Japanese patients with undermasculinized genitalia including hypospadias (patient 1 and patient 2). Endocrine studies by IA showed well increased serum T value after hCG stimulation (2.91 ng/mL) and a high T/A-dione ratio (4.04) in patient 1 at 2 weeks of age and sufficiently elevated basal serum T value (2.60 ng/mL) in patient 2 at 1.5 months of age. Despite such partial androgen insensitivity syndrome-like findings, whole exome sequencing identified biallelic ″pathogenic″ or ″likely pathogenic″ variants in HSD17B3 (c .188 C>T:p.(Ala63Val) and c .194 C>T:p.(Ser65Leu) in patient 1, and c.139 A>G:p.(Met47Val) and c.672 + 1 G>A in patient 2) (NM_000197.2), and functional analysis revealed reduced HSD17B3 activities of the missense variants (∼ 43% for p.Met47Val, ∼ 14% for p.Ala63Val, and ∼ 0% for p.Ser65Leu). Thus, we investigated hCG-stimulated serum steroid metabolite profiles by liquid chromatography-tandem mass spectrometry (LC-MS/MS) in patient 1 at 7 months of age and in patient 2 at 11 months of age as well as in five control males with idiopathic micropenis aged 1 – 8 years, and found markedly high T/A-dione ratios (12.3 in patient 1 and 5.4 in patient 2) which were, however, obviously lower than those in the control boys (25.3 – 56.1) and sufficiently increased T values comparable to those of control males. The elevated T/A-dione ratios are considered be due to the residual HSD17B3 function and the measurement by LC-MS/MS. Thus, it is recommended to establish the cut-off value for the T/A-dione ratio according to the phenotypic sex reflecting the residual function and the measurement method.

White matter connectivity in uncinate fasciculus accounts for visual attention span in developmental dyslexia

The present study aimed to investigate the role of connectivity disruptions in two fiber pathways, the uncinate fasciculus (UF) and the frontal aslant tract (FAT), in developmental dyslexia and determine the relationship between the connectivity of these pathways and behavioral performance in children with dyslexia. A total of 26 French children with dyslexia and 31 age-matched control children were included. Spherical deconvolution tractography was used to reconstruct the two fiber pathways. Hindrance-modulated oriented anisotropy (HMOA) was used to measure the connectivity of each fiber pathway in both hemispheres. Only boys with dyslexia showed reduced HMOA in the UF compared to control boys. Furthermore, HMOA of the UF correlated with individual differences in the visual attention span in participants with dyslexia. All significant results found in HMOA of the UF were verified in fractional anisotropy (FA) of the UF using standard diffusion imaging model. This study suggests a differential sex effect on the connectivity disruption in the UF in developmental dyslexia. It also indicates that the UF may play an essential role in the visual attention span deficit in developmental dyslexia.

Vaccination of household chickens results in a shift in young children’s diet and improves child growth in rural Kenya

Childhood growth faltering remains unacceptably high in sub-Saharan Africa. Rural communities dependent on household food production with limited off-farm income or liquid assets to bridge seasonal food availability are especially vulnerable. A cross-sectional survey in Siaya County, Kenya identified 23.5 and 4.8% of children under 5 y of age as stunted and wasted, respectively, using height-for-age Z (HAZ) scores to detect stunting and weight-for-height Z (WHZ) scores for wasting. Although these households are classified as living in poverty or extreme poverty with very limited off-farm income, households commonly have on-farm resources that could be developed to improve nutrition. While 95% of these households have chickens and consumption of eggs was shown to increase childhood growth by an average of 5%, the average flock size is small and constrained by high mortality due to infectious disease. We hypothesized that interventions to relieve this constraint would translate into household decisions influencing the diets and growth of children. Here, we show that vaccination of chickens against Newcastle disease has a causal impact on children’s consumption of animal source foods rich in protein and micronutrients relative to a high-carbohydrate, grain-based diet. Children in treatment households (chicken vaccination) showed overall increases in scores for both HAZ and WHZ relative to control households, benefiting both girls and boys. The findings demonstrate the impact of directing interventions at common on-farm assets managed by women in rural communities and support programs to enhance productivity at the household level.

Volleyball practice increases bone mass in prepubescent boys during growth: A 1-yr longitudinal study.

The aim of this longitudinal study was to examine the effects of 1-yr of volleyball practice on the bone mass development in the growing skeleton among prepubescent children. Twenty volleyball players and nine teen matched control boys (Tanner stage 1, at the start of the study) were followed over a 1-yr period. Bone mineral density (BMD, g/cm2), bone mineral content (BMC, g) were measured by dual-energy X-ray absorptiometry on the whole body, lumbar spine (L2–L4), legs, arms, femoral necks, hips and radii. At follow-up, in comparison with controls, volleyball players gained more BMD in whole body (4.5% vs 1.7%; p = 0.014), both nondominant and dominant arms (5.8% vs 1.1% p = 0.005, and 6% vs 2.1%; p = 0.003, respectively), both nondmoninat and dominant legs (9% vs 4.8%; p = 0.005 and 10.7% vs 6% p = 0.0025; respectively), dominant ultradistal radius (10.4% vs 0.9%; p = 0.005), dominant third distal radius (9.6% vs 3.71%; p = 0.023), dominant whole radius (7.4% vs 3.1%; p = 0.017), lumbar spine L2-L4 (9.9% vs 2.8%; p = 0.004), femoral neck (4.7% vs 1.6%; p = 0.034), trochanter (6% vs 1.5%; p<0.001) and total hip (6.1% vs 2.6%; p = 0.006). Volleyball players gained more BMC in both nondominant and dominant arms (25.1% vs 13.4%; p = 0.003, and 26.1% vs 15.6%; p<0.001 respectively), both nondominant and dominant legs (20.2% vs 14.5%; p = 0.004 and 23% vs 16%; p = 0.004, respectively), dominant ultradistal radius (22.4% vs 8.7%; p = 0.002), dominant third distal radius (20.9% vs 5.9%; p = 0.001), dominant whole radius (20% vs 13%), nondominant third distal radius (14.5% vs 5.9%; p = 0.001), nondominant whole radius (21.1% vs 12%; p = 0.002), lumbar spine L2-L4 (21.1% vs 13.7%; p = 0.007), femoral neck (25.9% vs 8.7%; p = 0.007), trochanter (23.5% vs 17.1%; p = 0.006), and total hip (16.3% vs 11.3%; p = 0.009) than controls. A close correlation was observed between the increment (Δ) of whole body lean mass and increased (Δ) BMD and BMC in whole body (r = 0.43, p<0.01, r = 0.73, p<0.001; respectively), lumbar spine (r = 0.54, r = 0.61, p<0.001; respectively), trochanter (r = 0.46, p<0.01, r = 0.35, p<0.05; respectively), and total hip (r = 0.53, p<0.01, r = 0.6, p<0.0001; respectively). In summary, 1-yr of volleyball practice has an osteogenic effect on bone mass in loaded sites in prepubescent boys.

Sex differences across developmental domains among children with a familial risk of severe mental disorders.

Sex differences in brain structure and neurodevelopment occur in non-clinical populations. We investigated whether sex had a similar effect on developmental domains amongst boys and girls with a familial risk of schizophrenia (FHR-SZ), bipolar disorder (FHR-BP), and controls. Through Danish registries, we identified 522 7-year-old children (242 girls) with FHR-SZ, FHR-BP, and controls. We assessed their performance within the domains of neurocognition, motor function, language, social cognition, social behavior, psychopathology, and home environment. FHR-SZ boys compared with FHR-SZ girls had a higher proportion of disruptive behavior and attention-deficit hyperactivity disorder (ADHD) and exhibited lower performance in manual dexterity, balance, and emotion recognition. No sex differences were found between boys and girls within FHR-BP group. Compared with controls, both FHR-SZ boys and FHR-SZ girls showed impaired processing speed and working memory, had lower levels of global functioning, and were more likely to live in an inadequate home environment. Compared with control boys, FHR-SZ boys showed impaired manual dexterity, social behavior, and social responsiveness, and had a higher proportion of ADHD and disruptive behavior disorder diagnoses. Stress and adjustment disorders were more common in FHR-BP boys compared with control boys. We found no differences between FHR-BP girls and control girls. Impairment within neurodevelopmental domains associated within FHR-SZ boys v. FHR-SZ girls was most evident among boys, whereas no sex differences were found within the FHR-BP group (FHR-BP boys v. FHR-BP girls). FHR-SZ boys exhibited the highest proportion of early developmental impairments.

Effect of gender, diabetes duration, inflammatory cytokines, and vitamin D level on bone mineral density among Thai children and adolescents with type 1 diabetes.

Type 1 diabetes mellitus (T1DM) is considered a risk factor for osteoporosis in adults; however, studies in bone mineral density (BMD) in children with T1DM reported conflicting results. The aim of this study was to compare BMD between T1DM youth and healthy controls, and to identify factors that affect BMD in T1DM youth. One hundred T1DM youths and 100 healthy controls (both groups aged 5-20 years) were recruited. BMD of total body, lumbar (L2-4), femoral neck, and total hip were assessed using dual energy X-ray absorptiometry. Blood investigations, including hemoglobin A1c (HbA1c), 25-hydroxyvitamin D, and inflammatory cytokines, were performed. Forty-four boys and 56 girls with T1DM were enrolled [mean age 14.5 ± 2.7 years, median (IQR) duration of T1DM 5.80 (2.97-9.07) years, and mean HbA1c entire duration 9.2 ± 1.4%]. T1DM girls had a lower height Z-score than control girls (p < 0.05), and 25-hydroxyvitamin D level was higher in T1DM youth than in controls (p < 0.001). After adjusting for pubertal status, height Z-score, and 25-hydroxyvitamin D, T1DM youth had a significantly lower lumbar BMD Z-score and femoral neck BMD than controls (p = 0.027 and p = 0.025, respectively). We also found that T1DM boys had a significantly lower lumbar BMD Z-score (p = 0.028), femoral neck BMD (p = 0.004), and total hip BMD (p = 0.016) than control boys. In contrast, these significant differences were not found in T1DM girls. Factors affecting BMD were different between T1DM boys and girls, and among different BMD sites. IL-13 was positively correlated with BMD in the total cohort and among girls. In boys - IL-2 and 25-hydroxyvitamin D were positively associated with BMD, and duration of diabetes was found to negatively affect BMD. Deleterious effect of T1DM on BMD is gender specific. The longer the duration of T1DM, the greater the deficit in BMD found among boys with T1DM.

Effect of androgens on Sertoli cell maturation in human testis from birth to puberty

BackgroundAndrogens are well known to be necessary for spermatogenesis. The purpose of this study was to determine Sertoli cell responsiveness to androgens according to age from birth to puberty.ResultsTesticular tissue samples were studied in a population of 84 control boys classified into seven groups according to age: group 1 (1–30 days), group 2 (1–3 months), group 3 (3–6 months), group 4 (0.5–3 years), group 5 (3–6 years), group 6 (6–12 years), and group 7 (12–16 years). We compared these data with those of 2 situations of pathology linked to androgens: 1/premature secretion of testosterone: 4 cases of Leydig cell tumor (LCT) in childhood; and 2 /defect of androgen receptors (AR): 4 cases of complete form of insensitivity to androgen syndrome (CAIS). In control boys, AR immunoreactivity (ir) in Sertoli cells appeared between 4.6 and 10.8 years of age, Anti-Mullerian Hormone (AMH) ir in Sertoli cells disappeared between 9.2 and 10.2 years of age. Connexin 43 (Cx43) ir in Sertoli cells and histological features of the onset of spermatogenesis appeared between 10.8 and 13,8 years of age. Cx43 ir was significantly higher in 12–16 year-olds than in younger boys. In case of CAIS, no spermatogenesis was observed, both AR and Cx43 ir were undetectable and AMH ir was elevated in Sertoli cells even at pubertal age. In the vicinity of LCTs, spermatogenesis occurred and both AR and Cx43 ir were strongly positive and AMH ir in Sertoli cells was low for age.ConclusionsAndrogen action on Sertoli cells is required for onset of spermatogenesis and premature androgen secretion by LCT can induce spermatogenesis in the vicinity of the tumor. AR ir appeared earlier than onset of spermatogenesis, with large interindividual variability. The timing and mechanisms of Sertoli cell responsiveness to androgens are important issues for understanding the induction of spermatogenesis at puberty.

Sleep Instability Correlates with Attentional Impairment in Boys with Attention Deficit Hyperactivity Disorder.

Theoretical models of sleep and attention deficit hyperactivity disorder (ADHD) suggest that symptoms of ADHD are associated with daytime sleepiness, but it has received little support. The present study aimed at testing an alternative model involving the association of attentional instability with sleep instability, i.e., sleep stage transitions and arousals. Twelve ADHD and 15 healthy control (HC) boys aged between 8 and 12 years old underwent polysomnography recording and attentional testing. The microarousal index, the number of awakenings, and the number of stage shifts between stages 1, 2, 3, 4 and REM sleep throughout the night were computed as sleep stability parameters. Attentional functioning was assessed using the Continuous Performance Test-II. We found significantly higher sleep instability in ADHD compared to HC. Sleep arousals and stage transitions (micro arousal index, stage 4/3 and 2/4 transitions) in ADHD significantly correlated with lower attentional scores. No association whatsoever was found between sleep instability and attentional functioning in HC. The results show that sleep instability is associated with lower attentional performance in boys with ADHD, but not in HC. This could be compatible with a model according to which attention and sleep stability share a common neural substrate in ADHD.

Executive functions, self-control and juvenile delinquency

ABSTRACT Both self-control and executive dysfunctions have gained theoretical and empirical support in their relation to juvenile delinquency. However, the precise nature of executive dysfunctions is unclear, and recent models suggest a new conceptualization of self-control, in which executive functions play a supporting role. This research attempts to clarify the role of executive dysfunctions in juvenile delinquency and explicitly integrate executive functioning with self-control in predicting juvenile offending. About 34 boys in the juvenile justice system and 36 age- and education-matched control boys participated in this research. Computerized tasks were used to measure executive functions. Self-control and background variables were measured through a survey. No significant differences emerged from group comparisons. A logistic regression model revealed cool executive functioning to be a significant predictor of group. Hot executive functions or self-control were not predictive. Finally, executive functions were not significantly related to self-control scores. These results indicate a potential role of cool executive functioning in the explanation of juvenile delinquency, independent of self-control.

Gender Differences in Attention Adaptation after an 8-Week FIFA 11+ for Kids Training Program in Elementary School Children.

School-based exercise intervention is recognized as an optimal tool for enhancing attentional performance in healthy school children. However, gender differences in the training adaptation regarding attentional capacities have not been elucidated clearly in the current literature. This study aimed to investigate the effects of an 8-week Fédération Internationale de Football Association (FIFA) 11+ for Kids training program on attentional performance in schoolboys and girls. Based on a quasi-experimental design, fifty-two children registered in year five of elementary school were assigned into the following groups: training boys (n = 13), training girls (n = 13), control boys (n = 13), and control girls (n = 13). The training groups undertook an 8-week FIFA 11+ Kids intervention with a training frequency of five times per week, whereas the control groups were deprived of any exercise during the study period. All the participants maintained their regular physical activity and weekly physical education (PE) lessons (two 50-min lessons per week of school curriculum) during the training period. The Chinese version of the Attention Scale for Elementary School Children (ASESC) test was used for attentional assessment at the baseline and one week after the interventional period. The Kruskal–Wallis H test was used for between-group comparison, whereas the Wilcoxon signed-rank test was used for within-group comparison. Significant differences in total scale, focused attention, selective attention, and alternating attention were found in group comparisons (p < 0.001). Furthermore, the training children significantly increased their values in relation to total scale, focused attention, sustained attention, and selective attention (p < 0.05). Only training girls significantly improved their divided attention after the training period (p < 0.001, MD = −0.77, ES = −0.12). In conclusion, the FIFA 11+ for Kids is an effective school-based exercise intervention for attentional improvement in school children. The schoolgirls demonstrated a positive outcome regarding divided attention after the interventional period.

Boys but Not Girls Exposed to Maternal Gestational Diabetes Mellitus Have Unfavorable Fat Distribution

Background: Maternal gestational diabetes mellitus (GDM) and overweight are associated with an increased risk of obesity and the metabolic syndrome in the adult offspring. We studied the influence of maternal GDM on prepubertal children’s body composition and bone mineral biochemistry. Methods: A total of 134 prepubertal Caucasian children (age range 4.4–9.7 years) were studied in a controlled cross-sectional study. Seventy-six children had been exposed to maternal GDM and 58 children born after a normal pregnancy served as controls. The outcome variables were body fat %, android fat %, gynoid fat %, android/gynoid fat ratio, bone mineral density (BMD), bone mineral content (BMC), muscle mass, lean mass (LM) and serum 25-hydroxyvitamin D, ionized calcium, phosphate, and alkaline phosphatase concentrations. Results: There were no differences in body fat %, android fat %, BMD, BMC, muscle mass, or LM between the study groups. Gynoid fat % was higher in the GDM than control children (p = 0.03). Android fat %, gynoid fat %, and android/gynoid fat ratio were higher in the GDM boys than control boys (p = 0.046, 0.037, and 0.038) respectively, but no differences were found between the GDM and control girls. Conclusions: Boys exposed to maternal GDM presented with more unfavorable fat distribution than their controls, whereas no difference was found between the girls. Otherwise, the differences in body composition were minimal between prepubertal GDM and control children.

Comparison of the Metabolic Profiles in the Plasma and Urine Samples Between Autistic and Typically Developing Boys: A Preliminary Study.

Background: Autism spectrum disorder (ASD) is defined as a pervasive developmental disorder which is caused by genetic and environmental risk factors. Besides the core behavioral symptoms, accumulated results indicate children with ASD also share some metabolic abnormalities.Objectives: To analyze the comprehensive metabolic profiles in both of the first-morning urine and plasma samples collected from the same cohort of autistic boys.Methods: In this study, 30 autistic boys and 30 tightly matched healthy control (HC) boys (age range: 2.4~6.7 years) were recruited. First-morning urine and plasma samples were collected and the liquid chromatography–mass spectrometry (LC-MS) was applied to obtain the untargeted metabolic profiles. The acquired data were processed by multivariate analysis and the screened metabolites were grouped by metabolic pathway.Results: Different discriminating metabolites were found in plasma and urine samples. Notably, taurine and catechol levels were decreased in urine but increased in plasma in the same cohort of ASD children. Enriched pathway analysis revealed that perturbations in taurine and hypotaurine metabolism, phenylalanine metabolism, and arginine and proline metabolism could be found in both of the plasma and urine samples.Conclusion: These preliminary results suggest that a series of common metabolic perturbations exist in children with ASD, and confirmed the importance to have a comprehensive analysis of the metabolites in different biological samples to reveal the full picture of the complex metabolic patterns associated with ASD. Further targeted analyses are needed to validate these results in a larger cohort.

Heavy metals and trace elements in scalp hair samples of children with severe autism spectrum disorder: A case-control study on Jordanian children

BackgroundElemental analysis has been increasingly used for biomonitoring heavy metals and trace elements. MethodsThis study monitored the levels of two heavy metals (Al and Pb), and seven trace elements (Macroelements Mg, K, P and Ca; Microelements Zn, Cu, Fe) in scalp hair of 57 children with severe autism spectrum disorder (ASD) and 50 age-matched controls, using Inductively Coupled Plasma Atomic Emission Spectrophotometry (ICP-AES). ResultsCompared to controls, significantly higher levels of Al (p = 0.001), Pb (p = 0.001) and K (p = 0.021), with lower levels of Mg and Zn (p = 0.038) were observed for the ASD group. ASD boys had higher levels of Al (p = 0.001), Pb (p = 0.001) and K (p = 0.017) than control boys, while ASD girls had higher Pb levels (p = 0.005) than control girls. The ASD subgroup exposed to passive smokers had higher levels of Al (p = 0.033) and Pb (p = 0.001, and the ASD subgroup not exposed to passive smoke had higher levels of Al (p = 0.011), Pb (p = 0.001), K (p = 0.003); and lower levels of Mg (p = 0.011) than their controls. Other confounding factors and the correlation between these elements were also investigated. ConclusionThis data suggests that exposure to Al and Pb, increase intake of K, and decreased intake of magnesium and zinc, may contribute to ASD etiology.

Decreased levels of γ-aminobutyric acid in temporal lobe of children with 47,XYY syndrome.

47,XYY syndrome (XYY) is a male sex chromosome disorder where subjects have one X chromosome and two copies of the Y chromosome. XYY is associated with a physical phenotype and carries increased risk of neurodevelopmental disorders such as autism spectrum disorder (ASD). Imbalance of excitation and inhibition has been proposed as a putative biological basis of disorders such as ASD [1-3] and several studies have reported atypical brain γ-aminobutyric acid (GABA) levels in this population. Given the male preponderance in the prevalence of ASD, the unique presence of the Y chromosome in males leads to the intriguing possibility of investigating boys with XYY syndrome as a model of excess Y-chromosome genes. In this study, we investigated the associations of genotype and clinical phenotype with levels of GABA, estimated by regionally localized edited magnetic resonance spectroscopy in boys with 47, XYY syndrome compared to age-matched typically developing (XY) peers. Overall, we observed a decrease in GABA levels in XYY vs. XY, which appeared more significant in the left compared to the right hemisphere. There was no additional significant modulation of GABA levels in XYY according to presence/absence of ASD diagnosis. Interestingly, a positive correlation between bilateral GABA levels and testosterone levels was observed in pubescent XY boys that was not observed in XYY. The inhibitory neurotransmitter GABA appears to be reduced in boys with 47,XYY, especially in the left hemisphere. Further, the typical association between GABA and testosterone levels, observed in older typically developing control boys was not evident in boys with 47,XYY.

Cortical gray matter structure in boys with Klinefelter syndrome

Klinefelter syndrome (KS, 47,XXY) is a common sex chromosome aneuploidy in males that is associated with a wide range of cognitive, social and emotional characteristics. The neural bases of these symptoms, however, are unclear. Brain structure in 19 pre- or early-pubertal boys with KS (11.5 ± 1.8 years) and 22 typically developing (control) boys (8.1 ± 2.3 years) was examined using surface-based analyses of cortical gray matter volume, thickness and surface area. Boys in the KS group were treatment-naïve with respect to testosterone replacement therapy. Reduced volume in the insula and dorsomedial prefrontal cortex was observed in the KS relative to the TD group, as well as increased volume in the parietal, occipital and motor regions. Further inspection of surface-based metrics indicated that whereas KS-associated increases in volume were driven by differences in thickness, KS-associated reductions in volume were associated with decreases in surface area. Exploratory analyses additionally indicated several correlations between brain structure and behavior, providing initial support for a neural basis of cognitive and emotional symptoms of this condition. Taken together, these data add support for a neuroanatomical phenotype of KS and extend previous studies through clarifying the precise neuroanatomical structural characteristics of that give rise to volumetric alterations.

Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment.

The aim was to define the true incidence of gynaecomastia in adolescent boys with Klinefelter syndrome (KS) and to observe testosterone treatment effects on its duration by examination of the prospectively collected data from a specialist referral clinic for boys with KS, with comparison being made with KS boys identified by a historical newborn chromosome screening programme, together with chromosomally normal controls. Fifty-nine boys over age 13 years were referred to a specialist KS clinic; 21 developed gynaecomastia. The comparator was 14 KS boys identified at birth and 94 chromosomally normal control boys. Testosterone was routinely started at the onset of puberty if gynaecomastia, a manifestation of clinical hypogonadism, was present. Oral or transdermal testosterone was administered in the morning, in a reverse physiological rhythm, and doses were increased according to standard pubertal regimens. The incidence of gynaecomastia was not increased in both the KS cohorts compared with controls. The incidence and age of onset of gynaecomastia was 35.6%, at 12.3 (1.8) years in the KS clinic group; 36.0%, at 13.7 (0.6) years in the newborn survey group; and 34.0%, at 13.6 (0.8) years in the controls. Full resolution of the gynaecomastia occurred in the 12/14 KS clinic boys on testosterone treatment who had completed puberty and as long as adherence was maintained.Conclusion: The incidence of gynaecomastia in KS boys (overall 35.6%) is not increased over typically developing boys. Commencing testosterone when gynaecomastia develops with physiological dose escalation and full adherence can result in the resolution of the gynaecomastia. What is Known: • Gynaecomastia is a common feature in Klinefelter syndrome men. • Hypogonadism occurs from mid-puberty onwards with the absence of the usual rise in testosterone levels. What is New: • The incidence of pubertal gynaecomastia in Klinefelter syndrome is not different from typically developing boys. • Early and prompt starting of testosterone gel treatment and increasing the dose physiologically may help to resolve the gynaecomastia without the need for surgery.