Hair trace element concentrations in autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD)

BackgroundThe existing data demonstrate that alteration of trace element and mineral status in children with neurodevelopmental disorders including ASD and ADHD. However, comparative analysis of the specific patterns of trace element and mineral metabolism in children with ASD and ADHD was not performed. Therefore, the primary objective of the present study was to assess hair trace element and mineral levels in boys with ADHD, ASD, as well as ADHD with ASD.MethodsBoys with ADHD (n = 52), ASD (n = 53), both ADHD and ASD (n = 52), as well as neurotypical controls (n = 52) were examined. Hair analysis was performed using inductively-coupled plasma mass-spectrometry.ResultsThe obtained data demonstrate that hair Co, Mg, Mn, and V levels were significantly reduced in children with ADHD and ASD, and especially in boys with ADHD + ASD. Hair Zn was found to be reduced by 20% (p = 0.009) only in children with ADHD + ASD as compared to healthy controls. Factor analysis demonstrated that ASD was associated with significant alteration of hair Co, Fe, Mg, Mn, and V levels, whereas impaired hair Mg, Mn, and Zn content was also significantly associated with ADHD. In regression models hair Zn and Mg were negatively associated with severity of neurodevelopmental disorders. The revealed similarity of trace element and mineral disturbances in ASD and ADHD may be indicative of certain similar pathogenetic features.ConclusionThe obtained data support the hypothesis that trace elements and minerals, namely Mg, Mn, and Zn, may play a significant role in development of both ADHD and ASD. Improvement of Mg, Mn, and Zn status in children with ASD and ADHD may be considered as a nutritional strategy for improvement of neurodevelopmental disturbances, although clinical trials and experimental studies are highly required to support this hypothesis.     

Iodine in autism spectrum disorders

ObjectiveThe aim of our study was to assess the iodine status of Polish boys with severe autism compared to their healthy peers and evaluate the relationship between urinary iodine, thyroid hormones, body mass index and Autism Spectrum Disorder (ASD) symptomatology.Subjects and methodsTests were performed in 40 boys with ASD and 40 healthy boys, aged 2–17 from the same geographic region in Poland. Urinary iodine (UI), free triiodothyronine (fT3), free thyroxine (fT4), thyroid stimulating hormone (TSH), BMI, and individual symptoms measured by the Childhood Autism Rating Scale (CARS) were correlated.Validated ion chromatography method with pulsed amperometric detection was applied for the determination of urinary iodine after optimized alkaline digestion in a closed system assisted with microwaves.Results19 out of 40 children with ASD had mild to moderate iodine deficiency. Statistically significant lower levels of UI, fT3 and fT4 and higher levels of TSH were found in the autistic group when compared with the control group. Concentration of iodine in urine was negatively associated with clinician’s general impression for children between 11 and 17 years. Emotional response, adaptation to environmental change, near receptor responsiveness, verbal communication, activity level, and intellectual functioning are more associated with UI than other symptoms listed in CARS.ConclusionThe severity of certain symptoms in autism is associated with iodine status in maturing boys. Thyroid hormones were within normal reference ranges in both groups while urinary iodine was significantly lower in autistic boys suggesting that further studies into the nonhormonal role of iodine in autism are required.     

Level of Trace Elements (Copper,Zinc, Magnesium and Selenium) and Toxic Elements (Lead and Mercury) in the Hair and Nail of Children with Autism

Autism is a multi-factorial pathology observed in children with altered levels of essential and elevated levels of toxic elements. There are also studies reporting a decrease in nutritional trace elements in the hair and nail of autistic children with healthy controls; moreover, bioelements have been shown to play an important role in the central nervous system. Therefore, the purpose of the present study was to assess the levels of trace elements like copper (Cu), zinc (Zn), magnesium (Mg), and selenium (Se) and toxic elements like mercury (Hg), and lead (Pb) in the hair and nail samples of autistic children and to evaluate whether the level of these elements could be correlated with the severity of autism. The subjects of the study were 45 autistic children with different grades of severity (low (LFA), medium (MFA), and high (HFA) functioning autism) according to Childhood Autism Rating Scale, n = 15 children in each group and 50 healthy children (age and sex matched). The boys and girls ratio involved in this study was 4:1, and they were 4-12 years of age. The study observed a valid indication of Cu body burden in the autistic children. The children with different grades of autism showed high significance (p < 0.001) in the level of copper in their hair and nail samples when compared to healthy controls. The level of Cu in the autistic children could be correlated with their degree of severity (more the Cu burden severe is autism). The study showed a significant elevation (p < 0.001) in the levels of toxic metals Pb and Hg in both hair and nail samples of autistic children when compared to healthy control group. The elevation was much pronounced in LFA group subjects when compared among autistic groups MFA and HFA. The levels of trace elements Mg and Se were significantly decreased (p < 0.001) in autistic children when compared to control. The trace element Zn showed significant variation in both hair and nails of LFA group children when compared to control group and other study groups. The significant elevation in the concentration of Cu, Pb, and Hg and significant decrease in the concentration of Mg and Se observed in the hair and nail samples of autistic subjects could be well correlated with their degrees of severity.     

BMI and levels of zinc,copper in hair,serum and urine of Turkish male patients with androgenetic alopecia

ObjectiveMale pattern androgenetic alopecia is characterized by progressive hair loss from the scalp. It is known that imbalances of some trace elements play a role in the pathomechanism of many forms of alopecia. The aim of this study was to evaluate the levels of zinc and copper in hair, serum and urine samples of Turkish males with male pattern androgenetic alopecia and to compare with healthy controls.Material and methods116 males with male pattern androgenetic alopecia and 100 controls were involved in this study.ResultsLevels of zinc and copper in hair were decreased significantly in the patients (p < 0.05), although zinc and copper levels of serum and urine were not different between patients and controls (p > 0.05). Body mass index of patients were higher than control group. In addition, in the group with body mass index of 25 and lower zinc level in hair and urine, copper level in serum were significantly higher (p < 0.05). Body mass index was negatively correlated with hair zinc levels.ConclusionWe thought that decreased zinc and copper levels in hair may play a role in the etiology of male pattern androgenetic alopecia. In addition, obesity by making changes in the balance of the trace elements in hair, serum and urine may play a role in male pattern androgenetic alopecia. Hence, assessing the levels of trace elements in hair of male pattern androgenetic alopecia patients may be more valuable compared to serum and urine for treatment planning.     

25OH维生素D水平检测与自闭症评定量表（CARS）评分的相关性及预测模型研究

摘要 目的：探究25OH维生素D（25(OH) D）水平检测与自闭症评定量表（CARS）评分的相关性及其评估自闭症严重程度的价值。方法：选取2020年4月~2022年3月在我院确诊的自闭症谱系障碍（ASD）患儿67例作为ASD组,并按照病情严重程度将所有患儿分为轻中度组46例,重度组36例。另募集来我科就诊无精神病史及家族史的健康查体儿童93例作为对照组。对比ASD组与对照组、ASD患儿轻中度组与重度组25(OH) D水平差异,分析ASD组患儿25(OH)D水平的影响因素,比较ASD组不同25(OH)D水平患儿CARS评分差异性,分析ASD患儿血清25(OH)D水平与CARS评分的相关性,并采用ROC曲线评估血清25(OH)D水平预估ASD严重程度的效能。结果：ASD组患儿血清25(OH) D水平显著低于于对照组（P<0.05）。相较于轻中度组,重度孤独症组患儿血清25(OH) D水平显著降低（P<0.05）。25(OH) D异常组患儿中母乳喂养、偏食及腹泻发生率显著高于25(OH) D正常组（P<0.05）。25(OH) D异常组患儿中CARS评分中的人际关系、模仿、情感反应、肢体动作、使用物体、对变化的适应、视觉反应、听觉反应及总分显著高于25(OH) D正常组（P<0.05）。CARS总分分与血清25(OH)D水平的成负相关性（r=-0.367,P=0.004）。血清25(OH)D水平预估ASD严重程度的AUC为0.716,敏感度为72.48%,特异度为78.65%。结论：血清25(OH)D在ASD患儿中成低表达,而且不同严重程度患儿血清25(OH)D差异表达,而且血清25(OH)D水平与CARS总分成负相关性,其作为评估ASD严重程度的生物标志物具有一定价值。     

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.     

Trace elements in children with autism spectrum disorder: A meta-analysis based on case-control studies

Autism spectrum disorder (ASD) is a common childhood neurodevelopmental disorder that may be related to trace elements. However, reports on the relationship between them are still inconsistent. In this article, we conducted a meta-analysis on this issue. We searched the PubMed, EMBASE, and Cochrane databases as of November 15, 2019. A random-effects model was used, and subgroups of studies were analyzed using samples of different measurements. Twenty-two original articles were identified (18 trace elements, including a total of 1014 children with ASD and 999 healthy controls). In autistic children, the overall levels of barium (Ba), mercury (Hg), lithium (Li), and lead (Pb) were higher. There were significant differences in the levels of copper (Cu) in the hair and serum between autistic children and the control group. The levels of Hg, Li, Pb and selenium (Se) in the hair of autistic children were higher than those of healthy children, while the levels of zinc (Zn) in the blood were lower. Excessive exposure to toxic heavy metals and inadequate intake of essential metal elements may be associated with ASD. Preventing excessive exposure to toxic metals and correcting poor dietary behaviors may be beneficial for the prevention and treatment of the disease.     

Intelligence May Moderate the Cognitive Profile of Patients with ASD

BackgroundThe intelligence of individuals with Autism Spectrum Disorder (ASD) varies considerably. The pattern of cognitive deficits associated with ASD may differ depending on intelligence. We aimed to study the absolute and relative severity of cognitive deficits in participants with ASD in relation to IQ.MethodsA total of 274 children (M age = 12.1, 68.6% boys) participated: 30 ASD and 22 controls in the below average Intelligence Quotient (IQ) group (IQ<85), 57 ASD and 54 controls in the average IQ group (85<IQ<115) and 41 ASD and 70 controls in the above average IQ group (IQ>115). Matching for age, sex, Full Scale IQ (FSIQ), Verbal IQ (VIQ), Performance IQ (PIQ) and VIQ-PIQ difference was performed. Speed and accuracy of social cognition, executive functioning, visual pattern recognition and basic processing speed were examined per domain and as a composite score.ResultsThe composite score revealed a trend significant IQ by ASD interaction (significant when excluding the average IQ group). In absolute terms, participants with below average IQs performed poorest (regardless of diagnosis). However, in relative terms, above average intelligent participants with ASD showed the most substantial cognitive problems (particularly for social cognition, visual pattern recognition and verbal working memory) since this group differed significantly from the IQ-matched control group (p < .001), whereas this was not the case for below-average intelligence participants with ASD (p = .57).ConclusionsIn relative terms, cognitive deficits appear somewhat more severe in individuals with ASD and above average IQs compared to the below average IQ patients with ASD. Even though high IQ ASD individuals enjoy a certain protection from their higher IQ, they clearly demonstrate cognitive impairments that may be targeted in clinical assessment and treatment. Conversely, even though in absolute terms ASD patients with below average IQs were clearly more impaired than ASD patients with average to above average IQs, the differences in cognitive functioning between participants with and without ASD on the lower end of the IQ spectrum were less pronounced. Clinically this may imply that cognitive assessment and training of cognitive skills in below average intelligent children with ASD may be a less fruitful endeavour. These findings tentatively suggest that intelligence may act as a moderator in the cognitive presentation of ASD, with qualitatively different cognitive processes affected in patients at the high and low end of the IQ spectrum.     

Hair levels of heavy metals and essential elements in Chinese children with autism spectrum disorder

BackgroundDisproportional heavy metals and essential elements were reported in children with autism spectrum disorder (ASD) that is obscure in etiology. Inevitably, the association is biased by diet and environmental factors.MethodsFifty pairs, one with ASD and the other living together from the same special school with cerebral palsy (CP), were recruited in Hangzhou (China), aged from 2 to 11 years old (74.0 % male). All samples were divided into two subgroups: preschool-aged (2–5 years old) and school-aged (6–10 years old). Heavy metals (As, Hg, Pb) and essential elements (Al, Ca, Cu, Mg, Mn, Zn) in hair were quantified by inductively coupled plasma mass spectrometry analysis and flame atomic absorption spectroscopy.ResultsThe children with ASD generally had lower hair levels of Mn (ASD 0.124 μg/g, CP 0.332 μg/g, P = 0.001) compared to the children with CP. After stratification for age, there were no significant differences detected in preschool-aged group. In school-aged group, the results exhibited the children with ASD had higher hair Pb (1.485 μg/g, 0.690 μg/g, P = 0.007) and Cu/Zn ratio (0.092, 0.060, P = 0.003), while hair Hg (0.254 μg/g, 0.353 μg/g, P = 0.016)、Mn (0.089 μg/g, 0.385 μg/g, P = 0.002)、Mg (17.81 μg/g, 24.53 μg/g, P = 0.014) and Zn (100.15 μg/g, 135.83 μg/g, P = 0.007) showed an opposite pattern.ConclusionsThese results suggest an imbalance of Mn in Chinese children with ASD.     

Testosterone and Androgen Receptor Sensitivity in Relation to Hyperactivity Symptoms in Boys with Autism Spectrum Disorders

Introduction

Autism spectrum disorders (ASD) and hyperactivity symptoms exhibit an incidence that is male-biased. Thus androgen activity can be considered a plausible biological risk factor for these disorders. However, there is insufficient information about the association between increased androgen activity and hyperactivity symptoms in children with ASD.

Methods

In the present study, the relationship between parameters of androgenicity (plasmatic testosterone levels and androgen receptor sensitivity) and hyperactivity in 60 boys (age 3–15) with ASD is investigated. Given well documented differences in parent and trained examiners ratings of symptom severity, we employed a standardized parent`s questionnaire (Nisonger Child Behavior Rating Form) as well as a direct examiner`s rating (Autism diagnostic observation schedule) for assessment of hyperactivity symptoms.

Results

Although it was found there was no significant association between actual plasmatic testosterone levels and hyperactivity symptoms, the number of CAG triplets was significantly negatively correlated with hyperactivity symptoms (R² = 0.118, p = 0.007) in the sample, indicating increased androgen receptor sensitivity in association with hyperactivity symptoms. Direct trained examiner´s assessment appeared to be a relevant method for evaluating of behavioral problems in the investigation of biological underpinnings of these problems in our study.

Conclusions

A potential ASD subtype characterized by increased rates of hyperactivity symptoms might have distinct etiopathogenesis and require a specific behavioral and pharmacological approach. We propose an increase of androgen receptor sensitivity as a biomarker for a specific ASD subtype accompanied with hyperactivity symptoms. Findings are discussed in terms of their implications for practice and future research.     

Risk factors in autism spectrum disorder: A Tunisian case-control study

BackgroundAutism spectrum disorder (ASD) is a neurodevelopmental condition that causes disability in social interaction, communication, and restrictive and repetitive behaviors. Common environmental factors like prenatal, perinatal, and/or postnatal factors play a key role in ASD etiologies. Moreover, specific metabolic disorders can be associated with ASD.Subjects and methodsWe performed a retrospective case-control study in child psychiatry clinics, involving 51 children with ASD and 40 typical development controls (TDC).ResultsWe found a correlation between children being breastfed for less than 6 months, having fathers more than 40 years old at childbirth in ASD compared to TDC group. Our study also associated low blood cholesterol and low erythrocyte magnesium levels with increased risk for ASD.ConclusionFindings support the implication of total cholesterol (TC) and erythrocyte magnesium level in defining autism outcome.     

Time Domain Analysis of Heart Rate Variability Signals in Valence Recognition for Children with Autism Spectrum Disorder (ASD)

BackgroundAutism Spectrum Disorder (ASD) is a neurodevelopmental condition that is characterized by various social impairments. Children with ASD have major difficulties in expressing themselves, resulting in stress and meltdowns. Understanding their hidden feelings and needs may help in tackling and avoiding such strenuous behaviors.ObjectiveThis research aims to aid the parents and caretakers of children with ASD to understand the hidden and unexpressed emotional state by using physiological signals obtained from wearable devices.MethodsHere, electrocardiogram (ECG) signals pertaining to two valence states (‘like’ and ‘dislike’) were recorded from twenty children (10 Control and 10 children with ASD). The heart rate variability (HRV) signals were then obtained from the ECG signals using the Pan-Tompkins's algorithm. The statistical, higher order statistics (HOS) and geometrical features which were statistically significant were trained using the K Nearest Neighbor (KNN) and Ensemble Classifier algorithms.ResultsThe findings of our analysis indicate that the integration of major statistical features resulted in an overall average accuracy of 84.8% and 75.3% using HRV data for the control and test population, respectively. Similarly, geometrical features resulted in a maximum average accuracy of 84.8% and 74.2% for control and test population respectively. The decreased HRV in the test population indicates the presence of autonomic dysregulation in children with ASD when compared to their control peers.     

Analysis of Hair Trace Elements in Children with Autism Spectrum Disorders and Communication Disorders

The primary objective of the present study is analysis of hair trace elements content in children with communication disorder (CD) and autism spectrum disorder (ASD). A total of 99 children from control, CD, and ASD groups (n = 33) were examined. All children were additionally divided into two subgroups according to age. Hair levels of trace elements were assessed using inductively coupled plasma mass spectrometry. The difference was considered significant at p < 0.01. The obtained data demonstrate that children with CD are characterized by significantly increased hair lithium (Li) (96 %; p = 0.008), selenium (Se) (66 %; p < 0.001), arsenic (As) (96 %; p = 0.005), beryllium (Be) (150 %; p < 0.001), and cadmium (Cd) (72 %; p = 0.007) content, being higher than the respective control values. In the ASD group, hair copper (Cu), iodine (I), and Be levels tended to be lower than the control values. In turn, the scalp hair content of Se significantly exceeded the control values (33 %; p = 0.004), whereas the level of iron (Fe) and aluminum (Al) tended to increase. After gradation for age, the most prominent differences in children with CD were detected in the elder group (5–8 years), whereas in the case of ASD—in the younger group (3–4 years old). Taking into account the role of hair as excretory mechanism for certain elements including the toxic ones, it can be proposed that children suffering from ASD are characterized by more profound alteration of metal handling and excretion in comparison to CD.     

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

IntroductionClinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD.MethodsWe identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents.ResultsThree male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon ({"type":"entrez-nucleotide","attrs":{"text":"NM_033517","term_id":"380748962","term_text":"NM_033517"}}NM_033517:c.3259_3259delC, p.Ser1088Profs*6).ConclusionsWe reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.     

Levels of Heavy Metals and Essential Minerals in Hair Samples of Children with Autism in Oman: a Case–Control Study

Toxic levels of heavy metals and low levels of essential minerals have been suggested to play a critical role in the pathogenesis of autism spectrum disorders (ASD). This study documents the levels of heavy metals and essential minerals in hair samples of children with ASD in Muscat, the urbanized capital of Oman, Muscat. The study included 27 children with ASD and 27 matched non-ASD controls. Parental interviews were held and dietary intake questionnaires completed in conjunction with the collection of hair samples. Analysis of heavy metals and essential minerals was carried out by inductively coupled plasma mass spectrometry. Chi-square analysis and non-parametric Fisher’s exact tests were used to assess statistical significance. Children with ASD had significantly higher levels of all 11 analyzed heavy metals in their hair samples (P?<?0.05), ranging from 150 to 365 % of control levels. ASD children also had significantly higher levels of essential minerals sulfur, sodium, magnesium, potassium, zinc, and iron, but lower levels of calcium and copper in their hair samples. This study corroborates data from previous studies in different parts of the world indicating the presence of elevated levels of heavy metals and selective depletion of essential minerals in the hair of children with ASD.     

Relative and combined effects of ethanol and protein deficiency on some hair trace elements

This study was performed in order to analyze the relative and combined effects of ethanol and protein deficiency on hair copper, zinc, manganese, and iron content in four groups of seven animals each which were pair-fed during 8 wk with (1) a nutritionally adequate diet, (2) a 36% (as energy) ethanol-containing isocaloric diet, (3) a 2% protein, isocaloric diet, and (4) a 36% ethanol, 2% protein isocaloric diet, respectively, following the Lieber-DeCarli model, and to analyze the relationship between hair copper, zinc, manganese, and iron content, and the liver and muscle content of these elements. Although there was a trend to higher levels of all the elements analyzed in the the hair of the low-protein fed animals, differences were statistically significant regarding copper and manganese, effects being solely attributable to the low protein diet, not to ethanol. Moreover, hair copper was significantly, inversely related with final weight and weight loss. There were significant relationship between liver zinc and muscle zinc (r=0.57, p=0.002), but not between liver or muscle zinc and hair zinc; no correlations were observed between muscle copper and hair copper, nor between liver manganese and hair manganese. An inverse, statistically significant correlation was observed between liver copper and hair copper (r=−0.39, p<0.05).     

Assessment of X-ray fluorescence capabilities for nail and hair matrices through zinc measurement in keratin reference materials

BackgroundNovel and emerging biomarkers of zinc status are being developed to help study and address zinc deficiency around the world. Two potential biomarkers, nail and hair, involve the measurement of zinc from easily accessible keratin-based components of the body. Portable X-ray fluorescence (XRF) is a relatively new approach to the assessment of zinc in nail or hair, and has a number of compelling advantages compared with other techniques. The aim of the current study was to test the ability of XRF to measure zinc in keratinized reference materials (RMs) designed to simulate nail and hair.MethodsFour Keratin Matrix RMs were prepared and characterized for numerous trace elements by the New York State Department of Health’s Wadsworth Center. The Keratin Matrix RMs consisted of powdered samples of caprine (goat) horns pooled from several animals. Concentrations of zinc, as assessed by inductively coupled plasma mass spectrometry (ICP-MS), were similar to what would be expected from human nail or hair tissues. Repeat measurements of the RMs were made using a portable XRF system. The XRF zinc results were compared with the ICP-MS zinc concentrations. Three different approaches to quantifying the zinc content by XRF were performed: (1) zinc signal to total signal ratio, (2) zinc signal to sulfur signal ratio, and (3) system output zinc concentration.ResultsThe portable XRF results from a given RM were found to be consistent across repeat trials under all three approaches to XRF quantitation. Precision, calculated as the relative standard deviation of repeat measurements ranged from an average result of 0.8 % (using the system output zinc concentration method) to 6.1 % (using the zinc signal to sulfur signal ratio method). Measurement of the RMs provided XRF zinc results which scaled well with ICP-MS zinc concentration, particularly when using the XRF zinc to total and system zinc concentration methods. A Bland-Altman plot showed that the XRF system zinc concentration output exceeded the ICP-MS zinc concentration by, on average, 10.2 % ± 1.2 %.ConclusionOverall, both accuracy and precision of measurement were found to be promising for portable XRF, provided appropriate conversions to concentration are introduced. The results of this study indicate that portable XRF is an effective and dependable method of assessing zinc concentration in keratinized tissue RMs. This will have implications for the future use of portable XRF to monitor zinc status in humans through measurements of nail and hair.     

Genetically meaningful phenotypic subgroups in autism spectrum disorders

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong evidence for genetic susceptibility. However, the effect sizes for implicated chromosomal loci are small, hard to replicate and current evidence does not explain the majority of the estimated heritability. Phenotypic heterogeneity could be one phenomenon complicating identification of genetic factors. We used data from the Autism Diagnostic Interview‐Revised, Autism Diagnostic Observation Schedule, Vineland Adaptive Behavior Scales, head circumferences, and ages at exams as classifying variables to identify more clinically similar subgroups of individuals with ASD. We identified two distinct subgroups of cases within the Autism Genetic Resource Exchange dataset, primarily defined by the overall severity of evaluated traits. In addition, there was significant familial clustering within subgroups (odds ratio, OR ≈ 1.38–1.42, P < 0.00001), and genotypes were more similar within subgroups compared to the unsubgrouped dataset (Fst = 0.17 ± 0.0.0009). These results suggest that the subgroups recapitulate genetic etiology. Using the same approach in an independent dataset from the Autism Genome Project, we similarly identified two distinct subgroups of cases and confirmed this severity‐based dichotomy. We also observed evidence for genetic contributions to subgroups identified in the replication dataset. Our results provide more effective methods of phenotype definition that should increase power to detect genetic factors influencing risk for ASD .     

Role of trace elements in pityriasis Alba

BackgroundPityriasis Alba (PA) is a common skin disorder affecting the children and it has multiple risk factors.ObjectivesTo assess the serum levels of trace elements (copper, zinc, and magnesium) and hemoglobin (Hb) level in patients with PA.MethodThis is a case control study; 110 participants (55 cases and 55 controls) were recruited from pediatric dermatology and family medicine clinics, Cairo university hospitals. Patients were allocated into two groups, PA group (randomly selected male and female children age group (6–16) with PA lesions) and a matched control group. Full history was taken including sociodemographic data, present history of the lesions. Full general and dermatological examination was done. Blood samples were taken to asses iron and trace elements levels. The gained measures were analyzed by (SPSS) program version 22.ResultsThis study showed that Hb levels, serum ferritin, copper, zinc and magnesium were significantly lower in PA group. There was statistically significant difference between both cases and controls regarding trace elements (copper, zinc, and magnesium) with (p value was 0.000, 0.000 and 0.003) respectively. Zinc deficiency increased the risk by more than 15 folds. Also, there was statistically significant difference between both groups regarding Hb levels and serum ferritin (p value was 0.000). The reduced Hb level increases the risk of PA by more than nine folds (OR 9.6)ConclusionPA is associated with reduced levels of Hb, serum zinc, ferritin, copper and magnesium; sun exposure, skin phototype were found to be important risk factors for PA.     

Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy

Objectives

To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD) and to determine the demographic and clinical characteristics of children with ASD and epilepsy in a large patient population.

Methods

Cross-sectional study using four samples of children with ASD for a total of 5,815 participants with ASD. The prevalence of epilepsy was estimated from a population-based sample. Children with and without epilepsy were compared on demographic and clinical characteristics. Multivariate logistic regression was used to examine the association between demographic and clinical characteristics and epilepsy.

Results

The average prevalence of epilepsy in children with ASD 2–17 years was 12.5%; among children aged 13 years and older, 26% had epilepsy. Epilepsy was associated with older age, lower cognitive ability, poorer adaptive and language functioning, a history of developmental regression and more severe ASD symptoms. The association between epilepsy and the majority of these characteristics appears to be driven by the lower IQ of participants with epilepsy. In a multivariate regression model, only age and cognitive ability were independently associated with epilepsy. Children age 10 or older had 2.35 times the odds of being diagnosed with epilepsy (p<.001) and for a one standard deviation increase in IQ, the odds of having epilepsy decreased by 47% (p<.001).

Conclusion

This is among the largest studies to date of patients with ASD and co-occurring epilepsy. Based on a representative sample of children with ASD, the average prevalence of epilepsy is approximately 12% and reaches 26% by adolescence. Independent associations were found between epilepsy and older age and lower cognitive ability. Other risk factors, such as poor language and developmental regression, are not associated with epilepsy after controlling for IQ. These findings can help guide prognosis and alert clinicians to patients with ASD who are at increased risk for epilepsy.