The association of neurofibromatosis and autism symptomatology is confounded by behavioral problems

AbstractAimto evaluate if autism symptoms and diagnoses are raised in children with neurofibromatosis type 1 (NF1), to which levels, and to determine if co-occurring symptomatology accounts for this elevation.MethodWe interrogated our hospital electronic medical records. We collected parental reports of autism symptomatology, adaptive behavior, and co-occurring behavioral and emotional problems on a subsample of 45 children (9 years 2 months, 49% male). Age- and sex-matched controls with (N=180) or without ASD (N=180) were drawn from the Simons Simplex Collection and compared cross-sectionally to participants with NF1.ResultsDiagnoses of ADHD (8.8%), not of ASD (2.1%), were raised among 968 children with NF1 identified through electronic search. Mean Social Responsiveness Score (55.9) was below the cut-off of 60 for significant autism symptoms. Participants with NF1 had significantly more autism and behavioral symptoms than typically developing (TD) controls, and significantly less than controls with autism, with one exception: ADHD symptom levels were similar to those of autistic controls. When emotional, ADHD, and communication scores were covaried, the difference between participants with NF1 and TD controls disappeared almost entirely.InterpretationOur results do not support an association between NF1 and autism, both at the symptom and disorder levels.What this paper addsDiagnoses of ADHD, not of ASD, were raised among children with NF1.Increases in autism symptoms did not reach clinically significant thresholds.Co-occurring ADHD symptoms accounted for increased autism questionnaire scores.Adaptive behavior in NF1 participants showed normal socialization but lower communication proficiency.

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Penggunaan Social Stories untuk Menurunkan Perilaku Nonadaptif Saat Berada dalam Kendaraan Bagi Autisme Dewasa

PHILANTHROPY Journal of Psychology ◽

10.26623/philanthropy.v1i2.1066 ◽

2020 ◽

Vol 1 (2) ◽

pp. 103

Author(s):

Markus Nanang Irawan ◽

Sri Widyawati

Keyword(s):

Social Interaction ◽

Behavior Problems ◽

Adaptive Behavior ◽

Behavioral Problems ◽

Research Method ◽

Social Stories ◽

Steering Wheel ◽

Graph Analysis ◽

Adult Autism ◽

The Individual

<pre>Individuals autism often have non-adaptive behavioral problems because of their barriers in communication and social interaction. The problem of non-adaptive behavior is often a nuisance to others because its appearance is not appropriate and not in accordance with the environment, age, and expectations of responsibility. One case of non-adaptive behavior that arises is the behavior while in a vehicle where the individual shows the behavior of singing loudly, knocking windows, pinching the driver, even holding the steering wheel. Based on these problems, this study aims to reduce non-adaptive behavior while in a vehicle. Participant is an adult autism. The research method is experiment by giving Social Stories to participants before riding the vehicle then recording to the possibility appearance of non adaptive behavior. The results of graph analysis showed a decrease in non adaptive behavior of adult autism adults while in a vehicle. This study became one of the important studies because it tries to understand the dynamics of behavior problems of individual autisme in adulthood.</pre><pre> </pre>

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The bowel and beyond: extracolonic findings from CT colonography

Irish Journal of Medical Science (1971 -) ◽

10.1007/s11845-021-02595-2 ◽

2021 ◽

Author(s):

Gerard Lambe ◽

Peter Hughes ◽

Louise Rice ◽

Caoimhe McDonnell ◽

Mark Murphy ◽

...

Keyword(s):

Ct Colonography ◽

Surgical Intervention ◽

Potential Significance ◽

Age And Gender ◽

Abdominal Aortic ◽

Life Threatening ◽

Extracolonic Findings ◽

The Difference ◽

Clinically Significant ◽

And Gender

AbstractCT colonography has emerged as the investigation of choice for suspected colorectal cancer in patients when a colonoscopy in incomplete, is deemed high risk or is declined because of patient preference. Unlike a traditional colonoscopy, it frequently reveals extracolonic as well as colonic findings. Our study aimed to determine the prevalence, characteristics and potential significance of extracolonic findings on CT colonography within our own institution. A retrospective review was performed of 502 patients who underwent CT colonography in our institution between January 1, 2010 and January 4, 2015. Of 502 patients, 60.63% had at least one extracolonic finding. This was close to other similar-sized studies (Kumar et al. Radiology 236(2):519–526, 2005). However, our rate of E4 findings was significantly higher than that reported in larger studies at 5.3%(Pooler et al. AJR 206:313–318, 2016). The difference may be explained by our combination of symptomatic/screening patients or by the age and gender distribution of our population. Our study lends support to the hypothesis that CT colonography may be particularly useful in identifying clinically significant extracolonic findings in symptomatic patients. CT colonography may allow early identification of extracolonic malignancies and life-threatening conditions such as an abdominal aortic aneurysm at a preclinical stage when they are amenable to medical or surgical intervention. However, extracolonic findings may also result in unnecessary investigations for subsequently benign findings.

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4971Blood viscosity and its relevance to the diagnosis and management of pulmonary hypertension: a new elephant in the cathlab

European Heart Journal ◽

10.1093/eurheartj/ehz746.0030 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

A Kempny ◽

K Dimopoulos ◽

A E Fraisse ◽

G P Diller ◽

L C Price ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Cardiac Catheterization ◽

Clinical Decision Making ◽

Clinical Decision ◽

Pulmonary Vasculature ◽

Pulmonary Vascular Disease ◽

Significant Difference ◽

The Difference ◽

Clinically Significant ◽

The Relationship

Abstract Background Pulmonary vascular resistance (PVR) is an essential parameter assessed during cardiac catheterization. It is used to confirm pulmonary vascular disease, to assess response to targeted pulmonary hypertension (PH) therapy and to determine the possibility of surgery, such as closure of intra-cardiac shunt or transplantation. While PVR is believed to mainly reflect the properties of the pulmonary vasculature, it is also related to blood viscosity (BV). Objectives We aimed to assess the relationship between measured (mPVR) and viscosity-corrected PVR (cPVR) and its impact on clinical decision-making. Methods We assessed consecutive PH patients undergoing cardiac catheterization. BV was assessed using the Hutton method. Results We included 465 patients (56.6% female, median age 63y). The difference between mPVR and cPVR was highest in patients with abnormal Hb levels (anemic patients: 5.6 [3.4–8.0] vs 7.8Wood Units (WU) [5.1–11.9], P<0.001; patients with raised Hb: 10.8 [6.9–15.4] vs. 7.6WU [4.6–10.8], P<0.001, respectively). Overall, 33.3% patients had a clinically significant (>2.0WU) difference between mPVR and cPVR, and this was more pronounced in those with anemia (52.9%) or raised Hb (77.6%). In patients in the upper quartile for this difference, mPVR and cPVR differed by 4.0WU [3.4–5.2]. Adjustment of PVR required Conclusions We report, herewith, a clinically significant difference between mPVR and cPVR in a third of contemporary patients assessed for PH. This difference is most pronounced in patients with anemia, in whom mPVR significantly underestimates PVR, whereas in most patients with raised Hb, mPVR overestimates it. Our data suggest that routine adjustment for BV is necessary.

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Attention Deficit Hyperactivity Disorder, Creativity, and the Effects of Methylphenidate

PEDIATRICS ◽

10.1542/peds.91.4.816 ◽

1993 ◽

Vol 91 (4) ◽

pp. 816-819

Author(s):

Jeanne B. Funk ◽

John B. Chessare ◽

Michael T. Weaver ◽

Anita R. Exley

Keyword(s):

Attention Deficit Hyperactivity Disorder ◽

Attention Deficit ◽

Repeated Measures ◽

Creative Thinking ◽

Adhd Group ◽

Hyperactivity Disorder ◽

Significant Difference ◽

Quasi Experimental ◽

The Difference ◽

Clinically Significant

Given that children with attention deficit hyperactivity disorder (ADHD) are more impulsive than peers, this study explored whether they are correspondingly more creative, and whether creativity declines when impulsivity is decreased through methylphenidate (Ritalin) therapy. A repeated-measures quasi-experimental design was used to compare the performance of 19 boys with previously diagnosed ADHD and 21 comparison boys aged 8 through 11 on two administrations of alternate forms of the Torrance Tests of Creative Thinking-Figural (nonverbal). Boys with ADHD received prescribed methylphenidate only for the first session. Overall, mean Torrance summary scores for comparison boys (mean = 115.1, SD = 16.1) were higher than for boys with ADHD (mean = 107.6, SD = 12.7). However, the difference between means was small (7%) and did not meet the 25% criterion for a clinically significant difference. No changes in performance over time (comparison group) or medication state (ADHD group) were observed. These data suggest that, when measured nonverbally, the creative thinking performance of boys with ADHD is not superior to that of peers who do not have ADHD. Regarding the effects of methylphenidate, prescribed therapy did not influence performance on this measure of creative thinking.

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Mother’s PCOS Diagnosis Is Not Associated With Behavioral Symptoms in Offspring at 4-5 years

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.1509 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A742-A742

Author(s):

Kathleen M Hoeger ◽

Donald Harrington ◽

Sally Thurston ◽

Nicole R Bush ◽

Sheela Sathyanarayana ◽

...

Keyword(s):

Behavioral Problems ◽

Maternal Age ◽

Polycystic Ovary ◽

Assessment System ◽

Composite Score ◽

Social Impairment ◽

Behavioral Symptoms ◽

Social Responsiveness ◽

Linear Regression Models ◽

History Of

Abstract Introduction: Variation in prenatal sex steroid concentrations has been linked to child behavioral problems, with higher maternal total and free testosterone associated with child internalizing and externalizing symptoms. Polycystic Ovary Syndrome (PCOS) is a hyperandrogenic disorder that results in elevated testosterone levels during pregnancy among affected women. Population-based analyses suggest a higher risk of depression and anxiety diagnosis in children of women with PCOS. Animal models of prenatal hyperandrogenism further support an association with increased anxiety in offspring. Within the context of a multi-center U.S. pregnancy cohort, we examined early childhood behavioral and social responsiveness in children born to mothers with and without PCOS. Methods: Pregnant women were recruited in their first trimester for The Infant Development and Environment Study (TIDES). PCOS status was determined by maternal reports of PCOS diagnosis or history of hirsutism/oligomenorrhea. Women who reported neither a history of PCOS or symptoms of hirsutism or oligomenorrhea served as a comparison group. When participating children were age 4, mothers completed the Behavioral Assessment System for Children, 2nd Edition (BASC-2), a measure of child behavior problems, and the Social Responsiveness Scale, 2nd Edition (SRS-2), a measure of social impairment consistent with autistic traits. We fit linear regression models considering three outcomes: (1) BASC-2 externalizing composite score (e.g., hyperactivity, aggression); (2) BASC internalizing composite score (e.g., anxiety, depression, somatization); and (3) SRS-2 total score, adjusting for covariates, maternal age, child age, race, study center, income, education, alcohol and tobacco use, child sex, maternal depression. For all outcomes, higher scores indicate more problematic behaviors. Results: A total of 360 mother/child pairs completed the 4-year assessment and were included in this analysis. This included 81 mothers with PCOS (37 male, 44 female) and 279 comparison mothers (132 male, 147 female). Mean maternal age at delivery was 30.7 years (±4.7) for PCOS cases and 31.9 years (±5.4) for comparison mothers. Interaction terms indicated no effect modification by child sex. In analyses combining both sexes, maternal PCOS was not associated with externalizing behaviors (β=1.81; 95% CI: -2.37, 6.0; p=0.40), internalizing behaviors (β=2.20; 95% CI: -2.14, 6.53; p=0.32), or social impairment (β=-0.34; 95% CI: -3.34, 2.65; p=0.82). Conclusions: In this prospective evaluation, we observed no association between maternal PCOS and neurobehavioral symptoms in children at age 4. Given that prior literature using population databases suggested increased behavioral symptoms in school-aged and older children of PCOS mothers, these symptoms may become more apparent with development and continued assessment is warranted.

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A Comparison Between Two Types of Radiographic Film for Accuracy of Measurements of Approximal Osseous Defects

The Journal of Contemporary Dental Practice ◽

10.5005/jcdp-7-3-22 ◽

2006 ◽

Vol 7 (3) ◽

pp. 22-29

Author(s):

Farah Masood ◽

Christos Angelopoulos ◽

Alan Glaros

Keyword(s):

Bone Loss ◽

Ground Truth ◽

Radiographic Film ◽

Radiographic Images ◽

Accuracy Of Measurements ◽

Significant Difference ◽

Molar Teeth ◽

The Difference ◽

Clinically Significant ◽

Osseous Defects

Abstract Aim The purpose of this study was to compare two types of conventional radiographic film: Ekta-speed plus and Insight (Eastman Kodak Co, Rochester NY, USA) for accuracy of measurements of approximal bone loss. Methods and Materials Four dried human mandibles with complete dentition were selected. Radiographic images were made with a standardized technique. Mesial and distal bone levels on the mandibular premolar and molar teeth were measured on the two types of radiographs (Ekta-speed plus and Insight) by nine observers. The data obtained by the observers were compared with the primary investigators’ corresponding measurements, which served as “the ground truth” for this study. Results The results of the analysis of variance (ANOVA) demonstrated a significant difference for the Ektaspeed plus film (p = .001), but the difference was not clinically significant. The level of intra-rater reliability was high for the observers (0.969 to 0.990). Conclusion Performance of Ekta-speed plus and Insight films was found to be similar. Citation Masood F, Angelopoulos C, Glaros A. A Comparison Between Two Types of Radiographic Film for Accuracy of Measurements of Approximal Osseous Defects. J Contemp Dent Pract 2006 July;(7)3:022-029.

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Sex differences in brain structure: An autism twin study on restricted and repetitive behaviors

10.1101/334367 ◽

2018 ◽

Cited By ~ 3

Author(s):

Annelies van’t Westeinde ◽

Élodie Cauvet ◽

Roberto Toro ◽

Ralf Kuja-Halkola ◽

Janina Neufeld ◽

...

Keyword(s):

Autism Spectrum Disorder ◽

Sex Differences ◽

Autism Spectrum ◽

Repetitive Behaviors ◽

Spectrum Disorder ◽

Brain Anatomy ◽

Social Responsiveness ◽

Autism Symptoms ◽

Twin Design ◽

Restricted And Repetitive Behaviors

AbstractFemales with autism spectrum disorder have been reported to exhibit fewer and less severe restricted and repetitive behaviors and interests compared to males. This difference might indicate sex specific alterations of brain networks involved in autism symptom domains, especially within cortico-striatal and sensory integration networks. This study used a well-controlled twin design to examine sex differences in brain anatomy in relation to repetitive behaviors. In 75 twin pairs (n=150, 62 females, 88 males) enriched for autism spectrum disorder (n=32), and other neurodevelopmental disorders (n =32), we explored the association of restricted and repetitive behaviors and interests – operationalized by the Autism Diagnostic Interview-Revised (C domain) and the Social Responsiveness Scale-2 (Restricted Interests and Repetitive Behavior subscale), with cortical volume, surface area and thickness of neocortical, sub-cortical and cerebellar networks. Cotwin control analyses revealed within-pair associations between RRBI symptoms and the right intraparietal sulcus and right orbital gyrus in females only. These findings endorse the importance of investigating sex differences in the neurobiology of autism symptoms, and indicate different etiological pathways underlying restricted and repetitive behaviors and interests in females and males.

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Effects of long-term closed environment on human saliva microbiota and salivary cytokines

10.1101/2020.10.12.336750 ◽

2020 ◽

Author(s):

Yinzhen Zhu ◽

Zikai Hao ◽

Yuming Fu ◽

Jianlou Yang ◽

Chen Dong ◽

...

Keyword(s):

Human Saliva ◽

Mucosal Barrier ◽

Future Research ◽

Controlled Environment ◽

List Type ◽

Tnf Α ◽

Normal Environment ◽

The Difference ◽

Sharing Space ◽

The Impact

AbstractCompared with the normal environment, the microbiota in controlled closed cabins such as space capsules, Lunar/Mars bases have changed. To ensure the health of crewmembers, it’s necessary to understand the effects of these changes on human symbiotic microorganisms and immunity. In this study, the experimental platform “Lunar Palace 1” with a similar closed and controlled environment was used to research the effects of changed microbial exposure on human saliva microbiota and salivary cytokines. This paper studied on four crewmembers who participated in the third phase of the “Lunar Palace 365” experiment, analyzing the dynamic changes of saliva microbiota and salivary cytokines, and further studying the correlation between salivary cytokines and highly abundant genera. According to our data, the crewmembers’ saliva microbiota and salivary cytokines fluctuated smoothly throughout the whole experiment. Although a part of microbes increased or decreased some times, they recovered quickly after leaving the controlled environment. The level of IL-6, IL-10 and TNF-α in crewmembers’ saliva decreased from normal environment to the controlled environment, showing reduced levels of oral inflammatory response in crewmembers. In addition, although there were significant individual differences in crewmembers’ saliva microbiota, sharing living space reduced the difference. Furthermore, the level of TNF-α showed a consistent positive correlation with the abundance of Actinomyces and Rothia in the controlled environment, indicating healthy individuals’ oral mucosal barrier may be sensitive to changes in saliva microbiota. According to the result, semi-sterile environments in controlled closed cabins didn’t cause persistent changes in human saliva microbiota and oral immunity. Besides, it provides a new idea for future research on the impact of the controlled environment on crewmembers health, and provides guidance for studying the effect of semi-sterile environments on human immunity based on saliva microbiota.Key pointsSaliva microbes kept stable for individual but got convergent when sharing space;The level of salivary cytokines reduced after entering the controlled environment;There were complex correlations between salivary cytokines and saliva microbes;The crewmembers adapt well to the controlled environment.

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Czech and Slovak Society

Government and Opposition ◽

10.1111/j.1477-7053.1993.tb01383.x ◽

1993 ◽

Vol 28 (4) ◽

pp. 479-495 ◽

Cited By ~ 9

Author(s):

Jiří Musil

Keyword(s):

Structural Analysis ◽

List Type ◽

Cultural Institutions ◽

Definition Of The Situation ◽

Czechoslovak Society ◽

Slovak Society ◽

The Difference ◽

Definition Of ◽

Czech Lands ◽

Political Economic

THIS STUDY IS ONE OF COMPARATIVE STRUCTURAL ANALYSIS deliberately avoiding a sociological definition of the situation. It is assumed that two societies had existed in Czechoslovakia for some time and the difference between them, and possible analogies, are examined. There is also an assumption that the division of Czechoslovakia occurred especially because ‘Czechoslovak society’ as such had not yet been established; this was in spite of the fact that the two societies, at the time of the split, had substantially more in common than they had had at the time of Czechoslovakia's formation. There exists the view, which we want to verify, that during the decline of the federation the following factors were significant:1. The differences in economic, social, cultural and dispositional structures;2. The asynchronous and differing processes of modernization in both societies;3. The different consequences of the formation of societies of Soviet type in the Czech Lands in Slovakia;4. The differing processes for rectification of political, economic and cultural institutions in both republics after November 1989.

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EPCO-01. MOLECULAR PROFILING OF SPINAL CORD EPENDYMOMA

Neuro-Oncology ◽

10.1093/neuonc/noab196.000 ◽

2021 ◽

Vol 23 (Supplement_6) ◽

pp. vi1-vi1

Author(s):

Erika Yamazawa ◽

Shota Tanaka ◽

Genta Nagae ◽

Takayoshi Umeda ◽

Taijun Hana ◽

...

Keyword(s):

Spinal Cord ◽

Dna Methylation ◽

Methylation Status ◽

Neurofibromatosis Type ◽

Methylation Pattern ◽

Who Grade ◽

Spinal Ependymoma ◽

Fresh Frozen ◽

Spinal Cord Ependymoma ◽

The Difference

Abstract BACKGROUND Ependymomas are currently classified into 9 subgroups by DNA methylation profiles. Although spinal cord ependymoma (SP-EPN) is distinct from other tumors, diversity within SP-EPN is still unclear. Here, we used transcriptomic and epigenomic profiles to investigate the diversity among Japanese SP-EPN cases. MATERIALS AND METHODS We analyzed 57 SP-EPN patients (32 males and 25 females, aged from 18 to 78 years, median: 52), including two cases of neurofibromatosis type 2, five cases of grade 3 (WHO grade). We obtained transcriptome (RNA-seq) and DNA methylation (Infinium Methylation EPIC array) data from fresh frozen specimens of SP-EPN resected at the University of Tokyo Hospital and our collaborative groups. RESULTS Three cases had a previous intracranial ependymoma operation. Hierarchical clustering of the DNA methylation data showed that these three cases of intracranial origin as a different cluster from spinal origin. The 45 grade 2 spinal ependymoma showed a relatively homogenous methylation pattern. However, the methylation status of HOX gene cluster regions is compatible with the segment of origin, which reflects the cells of origins are derived after the determination of segment identity. RNA sequencing of 57 cases revealed two subgroups within grade 2. Gene ontology analysis of differentially expressed genes suggested the difference in metabolic state such as rRNA translation and mitochondrial respiration between the two expression subgroups. CONCLUSION Epigenetic analysis indicated the accurate body segment origin of SP-EPN. We observed that metabolic states could divide grade 2 spinal cord ependymoma into 2 subgroups and will present the relationship to clinicopathological information.

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