Search

Procrastination behavior has been reportedly associated with the evening preference. This study aimed to evaluate its difference between patients with circadian rhythm sleep–wake disorders with phase delay (CRSWDswPD) and healthy controls in terms of evening preference and comorbid psychiatric disorders. Thirty patients with CRSWDswPD and 29 healthy participants were included. In both groups, the general procrastination scale (GPS), Beck Depression Inventory (BDI), and Morningness–Eveningness Questionnaire (MEQ) were administered. Additionally, Adult ADHD Self-Report Scale (ASRS) and autism spectrum quotient (AQ) were also assessed in the patient group. Unexpectedly, GPS was not statistically different between patients with CRSWDswPD and healthy controls. GPS was significantly higher with lower MEQ in the healthy group, whereas the opposite tendency was observed in the patient group. Higher AQ, ASRS, and BDI tended to be associated with higher GPS in the patient group, with the first two being statistically significant. The results suggest that general procrastination is not significantly associated with CRSWDswPD, although it is associated with evening preference in healthy participants. Procrastination in the patient group may be associated with developmental disorders or depression tendencies. Future studies should include simultaneous measurement of circadian markers, other behavioral assessments, a larger population, and untreated patients. [ABSTRACT FROM AUTHOR]

This article explores my personal experiences as a veterinary student diagnosed with attention deficit hyperactivity disorder (ADHD), focusing on how ChatGPT has figsignificantly helped me manage my symptoms and improve concentration, particularly during preparation for the IELTS exam. Despite my high cognitive abilities and early literacy, ADHD has posed challenges in sustaining focus during intensive study periods. As a high-functioning individual with ADHD, incorporating ChatGPT into my study routine has been instrumental in enhancing both focus and productivity. This study underscores the positive impact of ChatGPT as a digital tool for improving concentration and managing ADHD symptoms, demonstrating its potential as an effective supplement to traditional interventions. [ABSTRACT FROM AUTHOR]

Aya Sato,1 Shuntaro Itagaki,1 Takashi Ohnishi,2 Yusuke Osakabe,1 Hiroshi Hoshino,1 Kazuko Kanno,1 Ken Suzutani,1 Tomohiro Wada,1 Itaru Miura,1 Hirooki Yabe1 1Department of Neuropsychiatry, Fukushima Medical University, Fukushima, Japan; 2Medical Affairs Division, Janssen Pharmaceutical K.K, Tokyo, JapanCorrespondence: Aya Sato, Department of Neuropsychiatry, Fukushima Medical University, Hikarigaoka 1, Fukushima, 960-1295, Japan, Tel +81-24-547-1331, Fax +81-24-548-6735, Email ayasato12190629@gmail.comObjective: The mismatch negativity (MMN) reflects automatic cognitive function in response to auditory stimulation. The MMN to duration deviant (d-MMN) amplitude is known to be lower in children with autism spectrum disorder (ASD) than in healthy controls (HCs). Moreover, the d-MMN is known to be a trait maker of schizophrenia because it is unaffected by the duration of illness. This study aimed to identify robust tools to distinguish adults with ASD from HCs by measuring the d-MMN.Methods: Fifteen adults with ASD (age range, 20– 40 years) and 20 HCs were compared. After excluding patients with a low intelligence quotient, those using central nervous system stimulants, and those with excessive alcohol consumption, we conducted an auditory oddball task to measure the d-MMN.Results: Compared with HCs, the patients with ASD showed significantly shorter d-MMN latencies for Fz and Cz.Conclusion: The present findings suggest that the automatic cognitive function indicated by MMN amplitude might be improved by growth. Alternatively, the hypersensitivity indicated by d-MMN latencies suggests that it could persist into adulthood.Significance: The d-MMN latency was shortened in patients with ASD compared with HCs. We believe that this is the first report to reveal that hypersensitivity in ASD as reflected by a shortened d-MMN latency should be maintained, even in adults.Keywords: event-related potential, mismatch negativity, autism spectrum disorder, developmental disorder

Gingival cyst of adult (GCA) is a rare developmental cyst of odontogenic origin. It occurs in free or attached gingiva, usually near buccal canine and premolar mandibular region. It is commonly asymptomatic, slow-growing, single, and small, flesh-colored swelling. GCA is usually treated by excisional biopsy. The aim of the review was to summarize knowledge about the etiology, symptoms, diagnosis, and treatment of GCA available in scientific literature. PubMed and Google Scholar databases were used as sources, and key words and their combinations, such as “gingival cyst” and “odontogenic cysts” were applied to obtain the list of available references. The literature on GCA indicated that this relatively rare developmental odontogenic cyst is mostly prevalent in the 5th and 6th decade, most frequently in the mandible and canine-premolar sites, typically presenting as solitary lesion of 5 mm diameter, treated by excisional biopsy. Histology shows a very thin, uninflamed wall, lined with a squamous or cuboidal epithelium. Multiple cysts are very rare. The incidence of GCA has been reported to be less than 0.5%. It can cause pressure and bone resorption. Defini­tive treatment can be achieved with excisional biopsy. Despite being a rare lesion, GCA should be considered in clinical differential diagnosis of gingival lesions.

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) is a highly prevalent childhood and adult behavioral disorder. Internet searches for ADHD information are rising, particularly for diagnosis and treatment. Despite effective ADHD treatments, research suggests that there are delays in seeking help for ADHD. Identifying ways to shorten delays is important for minimizing morbidity associated with ADHD. One way to shorten these delays is to improve internet health information resources. Research shows that parents of children with ADHD feel that much of the information available is technical and not tailored for their childs needs and verbal instructions given by health care providers were too pharmacologically focused with limited information about how to manage and support ADHD symptoms in daily living. A majority of parents search the internet for general and pharmacological information for ADHD and prefer web-based resources for learning about ADHD, but web-based resources may be inaccurate and of low quality. Ensuring accurate information through the internet is an important step in assisting parents and adults in making informed decisions about the diagnosis and treatment of ADHD. OBJECTIVE: Although a great deal of information regarding ADHD is available on the internet, some information is not based on scientific evidence or is difficult for stakeholders to understand. Determining gaps in access to accurate ADHD information and stakeholder interest in the type of information desired is important in improving patient engagement with the health care system, but minimal research addresses these needs. This study aims to determine the information needs and formatting needs of web-based content for adults with ADHD and parents of children with ADHD in order to improve user experience and engagement. METHODS: This was a 3-phase study consisting of in-depth phone interviews about experiences with ADHD and barriers searching for ADHD-related information, focus groups where participants were instructed to consider the pathways by which they made decisions using web-based resources, and observing participants interacting with a newly developed website tailored for adults with potential ADHD and caregivers of children who had or might have ADHD. Phase 1 individual interviews and phase 2 focus groups identified the needs of the ADHD stakeholders related to website content and format. Interview and focus group findings were used to develop a website. Phase 3 used think-aloud interviews to evaluate website usability to inform the tailoring of the website based on user feedback. RESULTS: Interviews and focus group findings revealed preferences for ADHD website information and content, website layout, and information sources. Themes included a preference for destigmatizing information about ADHD, information specific to patient demographics, and evidence-based information tailored to lay audiences. CONCLUSIONS: ADHD stakeholders are specifically seeking positive information about ADHD presented in a user-friendly format.

Sensory processing challenges are crucial yet often neglected aspects in the care of children with neurodevelopmental disorders and genetic conditions. They represent a key area of interest in neuroscience, as they significantly impact children’s daily functioning and quality of life. This observational study examines these challenges in a group of 614 children, aged 3 to 14 years and 11 months, divided into three groups: 183 with neurodevelopmental disorders (autism spectrum disorder, attention deficit hyperactivity disorder, developmental delays, and learning disorders), 89 with genetic conditions (22q11.2 deletion syndrome, Williams syndrome, and pseudohypoparathyroidism), and 342 controls. Sensory processing was assessed using Sensory Profile 2 (SP2). Results indicated that children with neurodevelopmental disorders and genetic conditions exhibited significant sensory processing difficulties compared to controls. SP2 identified distinct sensory challenges across different sensory systems, varying by diagnosis. Notably, genetic conditions appeared to have a more generalised impact across multiple sensory systems, while neurodevelopmental disorders tended to affect specific systems more narrowly. These findings highlight the importance of early identification and tailored evidence-based interventions to address these specific sensory processing issues. Further research should explore the long-term impact of these interventions in these different populations and their integration into broader therapeutic programmes.

本研究は、採用後に発達障害が把握された従業員の人事担当者からみた職場適応上の問題や発達障害 を把握した上で採用した従業員との雇用管理上の違いを明らかにすることを目的とした。障害者雇用状 況報告の対象企業3,456社 (回収率23.2%) から得られた回答を基に、職場適応上の問題の構造を探索的 因子分析により明らかにした。職場適応上の問題は、職務遂行上の困難さ、対人関係やルールの理解の 困難さ、基礎学力や生活習慣の困難さの３因子で構成された。また自由記述で得られた結果から、発達 障害を把握した上で採用した従業員との雇用管理上の違いとして、当該従業員の職務遂行能力と担当職 務のミスマッチの調整困難、当該従業員を理解し配慮を講じることができる体制づくりの困難さ、当該 従業員の課題への対処困難、雇用形態や待遇等での他の従業員との平等性の確保の困難さが示された。 得られた結果から、当該従業員に対する合理的配慮提供の必要性について論じた。 [ABSTRACT FROM AUTHOR]

• Levetiracetam (LEV) is a 1st line anti-seizure medication (ASM) in the UK. • There is no high-quality evidence comparing PwID to those without ID prescribed LEV. • Concerns exist regarding LEV's behavioural & psychological side-effects in PwID. • This is the largest study of PwID trialled on LEV & compared to non-ID controls. • Findings largely support prescribing of LEV for PwID as a first line ASM. People with Intellectual Disabilities (PwID) are twenty times more likely than general population to have epilepsy. Guidance for prescribing antiseizure medication (ASM) to PwID is driven by trials excluding them. Levetiracetam (LEV) is a first-line ASM in the UK. Concerns exist regarding LEV's behavioural and psychological adverse effects, particularly in PwID. There is no high-quality evidence comparing effectiveness and adverse effects in PwID to those without, prescribed LEV. Pooled casenote data for patients prescribed LEV (2000–2020) at 18 UK NHS Trusts were analysed. Demographics, starting and maximum dose, adverse effects, dropouts and seizure frequency between ID (mild vs. moderate-profound (M/P)) and general population for a 12-month period were compared. Descriptive analysis, Mann-Whitney, Fisher's exact and logistic regression methods were employed. 173 PwID (mild 53 M/P 120) were compared to 200 without ID. Mean start and maximum dose were similar across all groups. PwID (Mild & M/P) were less likely to withdraw from treatment (P = 0.036). No difference was found between ID and non-ID or between ID groups (Mild vs M/P) in LEV's efficacy i.e. >50 % seizure reduction. Significant association emerged between ID severity and psychiatric adverse effects (P = 0.035). More irritability (14.2 %) and aggression (10.8 %) were reported in M/P PwID. PwID and epilepsy have high rates of premature mortality, comorbidities, treatment resistance and polypharmacy but remain poorly researched for ASM use. This is the largest studied cohort of PwID trialled on LEV compared to general population controls. Findings support prescribing of LEV for PwID as a first-line ASM. [ABSTRACT FROM AUTHOR]

Copyright of Anales de Investigación en Arquitectura is the property of Universidad ORT Uruguay, Facultad de Arquitectura and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Magyar Radiológia Online is the property of Society of Hungarian Radiologists and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Estimates of the prevalence of intellectual disability or autism spectrum disorder (ASD) may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme (NDIS) in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability. Methods: Its recent inclusion as a source of ascertainment in the populationbased Intellectual Disability Exploring Answers (IDEA) database in Western Australia has allowed comparisons of the prevalence of intellectual disability and ASD before and after its introduction. Results: Prevalence of intellectual disability in 2020 was 22.5 per 1,000 (/1,000) live births compared with previous estimates in 2010 of 17/1,000, and for ASD, the estimate was 20.7/1,000 in 2020 compared with 5.1/1,000 in 2010. Whilst the prevalence of ASD in Aboriginal individuals was about two-thirds that of non-Aboriginals, there was an increased prevalence of ASD in Aboriginal children under 10 years compared with non-Aboriginal children. Discussion: The concurrent relaxation of ASD diagnostic practice standards in Western Australia associated with the administration of access to the NDIS and the release of the National Guidelines empowering single diagnosticians to determine the appropriateness of engaging additional diagnosticians to form a multidisciplinary team on ASD diagnosis, appear to be important factors associated with the increase in ASD diagnoses both with and without intellectual disability. [ABSTRACT FROM AUTHOR]

Numerous anatomical variants are described around the knee, many of which look like bony lesions, so it is important to know them to avoid unnecessary complementary tests and inadequate management. Likewise, several alterations in relation to normal development can also simulate bone lesions. However, numerous pathologic processes frequently affect the knee, including traumatic, inflammatory, infectious, and tumor pathology. Many of these entities show typical radiologic features that facilitate their diagnosis. In other cases, a correct differential diagnosis is necessary for proper clinical management. Despite the availability of increasingly advanced imaging techniques, plain radiography is still the technique of choice in the initial study of many of these pathologies. This article reviews the radiologic characteristics of tumor and nontumor lesions that may appear around the knee to make a correct diagnosis and avoid unnecessary complementary radiologic examinations and inadequate clinical management. [ABSTRACT FROM AUTHOR]

Perceiving biological motion (BM) is crucial for human survival and social interaction. Many studies have reported impaired BM perception in autism spectrum disorder, which is characterised by deficits in social interaction. Children with attention deficit hyperactivity disorder (ADHD) often exhibit similar difficulties in social interaction. However, few studies have investigated BM perception in children with ADHD. Here, we compared differences in the ability to process local kinematic and global configurational cues, two fundamental abilities of BM perception, between typically developing and ADHD children. We further investigated the relationship between BM perception and social interaction skills measured using the Social Responsiveness Scale and examined the contributions of latent factors (e.g. sex, age, attention, and intelligence) to BM perception. The results revealed that children with ADHD exhibited atypical BM perception. Local and global BM processing showed distinct features. Local BM processing ability was related to social interaction skills, whereas global BM processing ability significantly improved with age. Critically, general BM perception (i.e. both local and global BM processing) may be affected by sustained attentional ability in children with ADHD. This relationship was primarily mediated by reasoning intelligence. These findings elucidate atypical BM perception in ADHD and the latent factors related to BM perception. Moreover, this study provides new evidence that BM perception is a hallmark of social cognition and advances our understanding of the potential roles of local and global processing in BM perception and social cognitive disorders.

This study compares two parent reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS). The ATEC consists of four subscales, as follows: (1) expressive language, (2) sociability, (3) sensory awareness, and (4) health. The MSEC is complementary to the ATEC in measuring complex language comprehension. The parents of 143 autistic children, from 2 to 22 years of age (mean 6.7 ± 5.1 years), completed the MSEC and the ATEC questionnaires and a clinician assessed their CARS score. The CARS score correlated strongly with all parent reports, the complex language comprehension MSEC (r = 0.60, p < 0.0001), expressive language (r = 0.66, p < 0.0001), sociability (r = 0.58, p < 0.0001), sensory awareness (r = 0.71, p < 0.0001), and health (r = 0.53, p < 0.0001), as well as the total ATEC score (r = 0.75, p < 0.0001). The strongest correlation was between the CARS score and the composite of all five parent-reported scores (total ATEC + MSEC, r = 0.77, p < 0.0001). These results suggest a high fidelity of the MSEC and ATEC parent reports and especially of their composite score, total ATEC + MSEC.

(1) Background: The stress experienced by parents with children with developmental disorders who present temporary or permanent needs, makes them experience a series of daily situations that may be linked to coping strategies. Resilient attributes are considered one of the factors that have a decisive influence on the behavior of parents related to raising their children and that affect greater well-being and life satisfaction. The objective of this research is to study the mediating effect of resilient attributes between parental stress and life satisfaction; (2) Methods: In this study, mothers and fathers of boys and girls from 0 to 6 years old with developmental disorders from different Early Childhood Care Centers (CAIT) in the Province of Jaén (Andalusia) [Spain]. Of them, 96 are mothers (78.0%) and 27 are fathers (22.0%), with a mean age of 37.85 years (±5.043). The Parenting Stress Index-Short Form (PSI-SF), Resilience Scale (RS-14), and Satisfaction with Life Scale (SWLS) were used. The structural equations model (PLS-SEM) was applied to estimate the proposed theoretical model, from an explanatory-predictive perspective; (3) Results: The results showed the coefficients of determination Parental distress [(Q2 = 0.144); (R2 = 0.329)]; Personal competence [(Q2 = 0.106); (R2 = 0.246)]; Acceptance of self and life [(Q2 = 0.094); (R2 = 0.172)] and Life satisfaction [(Q2 = 0.182); (R2 = 0.563)], in the estimation of the reflective model, indicating a moderate fit; (4) Conclusions: The present investigation is not conclusive; however, the implications of these findings are discussed and suggestions for future research are considered.

Dyslexia is a genetic and heritable disorder that has yet to discover the treatment of it, especially at the molecular and drug intervention levels. This review provides an overview of the current findings on the environmental and genetic factors involved in developmental dyslexia. The latest techniques used in diagnosing the disease and macromolecular factors findings may contribute to a higher degree of development in detangling the proper management and treatment for dyslexic individuals. Furthermore, this review tried to put together all the models used in the current dyslexia research for references in future studies that include animal models as well as in vitro models and how the previous research has provided consistent data across many years and regions. Thus, we suggest furthering the studies using an organoid model based on the existing gene polymorphism, pathways, and neuronal function input.

IntroductionEstimates of the prevalence of intellectual disability or autism spectrum disorder (ASD) may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme (NDIS) in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.MethodsIts recent inclusion as a source of ascertainment in the population-based Intellectual Disability Exploring Answers (IDEA) database in Western Australia has allowed comparisons of the prevalence of intellectual disability and ASD before and after its introduction.ResultsPrevalence of intellectual disability in 2020 was 22.5 per 1,000 (/1,000) live births compared with previous estimates in 2010 of 17/1,000, and for ASD, the estimate was 20.7/1,000 in 2020 compared with 5.1 /1,000 in 2010. Whilst the prevalence of ASD in Aboriginal individuals was about two-thirds that of non-Aboriginals, there was an increased prevalence of ASD in Aboriginal children under 10 years compared with non-Aboriginal children.DiscussionThe concurrent relaxation of ASD diagnostic practice standards in Western Australia associated with the administration of access to the NDIS and the release of the National Guidelines empowering single diagnosticians to determine the appropriateness of engaging additional diagnosticians to form a multidisciplinary team on ASD diagnosis, appear to be important factors associated with the increase in ASD diagnoses both with and without intellectual disability.

Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and severity. Additionally, there are prominent behavioral disturbances, including hyperactivity, aggression, and features of autism spectrum disorder. The most frequently identified recurrent variant is KCNB1-p.R306C, a missense variant located within the S4 voltage-sensing transmembrane domain. Individuals with the R306C variant exhibit mild to severe developmental delays, behavioral disorders, and a diverse spectrum of seizures. Previous in vitro characterization of R306C described altered sensitivity and cooperativity of the voltage sensor and impaired capacity for repetitive firing of neurons. Existing Kcnb1 mouse models include dominant negative missense variants, as well as knockout and frameshifts alleles. While all models recapitulate key features of KCNB1 encephalopathy, mice with dominant negative alleles were more severely affected. In contrast to existing loss-of-function and dominant-negative variants, KCNB1-p.R306C does not affect channel expression, but rather affects voltage-sensing. Thus, modeling R306C in mice provides a novel opportunity to explore impacts of a voltage-sensing mutation in Kcnb1. Using CRISPR/Cas9 genome editing, we generated the Kcnb1R306C mouse model and characterized the molecular and phenotypic effects. Consistent with the in vitro studies, neurons from Kcnb1R306C mice showed altered excitability. Heterozygous and homozygous R306C mice exhibited hyperactivity, altered susceptibility to chemoconvulsant-induced seizures, and frequent, long runs of slow spike wave discharges on EEG, reminiscent of the slow spike and wave activity characteristic of Lennox Gastaut syndrome. This novel model of channel dysfunction in Kcnb1 provides an additional, valuable tool to study KCNB1 encephalopathies. Furthermore, this allelic series of Kcnb1 mouse models will provide a unique platform to evaluate targeted therapies.

As the contribution of de novo mutations (DNMs) to human genetic diseases has been gradually uncovered, analyzing the global research landscape over the past 20 years is essential. Because of the large and rapidly increasing number of publications in this field, understanding the current landscape of the contribution of DNMs in the human genome to genetic diseases remains a challenge. Bibliometric analysis provides an approach for visualizing these studies using information in published records in a specific field. This study aimed to illustrate the current global research status and explore trends in the field of DNMs underlying genetic diseases. Bibliometric analyses were performed using the Bibliometrix Package based on the R language version 4.1.3 and CiteSpace version 6.1.R2 software for publications from 2000 to 2021 indexed under the Web of Science Core Collection (WoSCC) about DNMs underlying genetic diseases on 17 September 2022. We identified 3435 records, which were published in 731 journals by 26,538 authors from 6052 institutes in 66 countries. There was an upward trend in the number of publications since 2013. The USA, China, and Germany contributed the majority of the records included. The University of Washington, Columbia University, and Baylor College of Medicine were the top-producing institutions. Evan E Eichler of the University of Washington, Stephan J Sanders of the Yale University School of Medicine, and Ingrid E Scheffer of the University of Melbourne were the most high-ranked authors. Keyword co-occurrence analysis suggested that DNMs in neurodevelopmental disorders and intellectual disabilities were research hotspots and trends. In conclusion, our data show that DNMs have a significant effect on human genetic diseases, with a noticeable increase in annual publications over the last 5 years. Furthermore, potential hotspots are shifting toward understanding the causative role and clinical interpretation of newly identified or low-frequency DNMs observed in patients. [ABSTRACT FROM AUTHOR]

Background: People with intellectual disabilities (ID) die on an average 20 years earlier to the general population. They have higher rates of multimorbidity and polypharmacy. Around 25% of people with ID report chronic constipation. The England Learning Disabilities Mortality Review found that nearly 25% of deaths identified constipation as a long‐term health problem. However, the likely risk factors for constipation related harm are poorly enumerated. We sought to identify possible specific high‐risk factors by examining the clinical characteristics of people with ID admitted to hospital with constipation. Methods: Data of people with ID admitted with constipation in two general hospitals covering a population of 1.3 million from 2017 to 2022 were reported using the STROBE guideline for cohort studies. Collected data included age, gender, intellectual disability severity, recorded medication, presenting complaint and co‐morbidities. The medication anticholinergic burden was calculated using the anticholinergic burden scale. Continuous variables were summarised by mean and standard deviation if normally distributed, with categorical variables summarised by the number and percentage in each category. Results: Of 46 admissions (males 52%), 57% had moderate to profound ID, 37% had epilepsy, 41% prescribed antiseizure medication (ASM) and 45% were on laxatives. Average age was 46 years. The anticholinergic burden score mean was 2.3 and median, one. Conclusions: We can hypothesise that people with more severe ID, suffering from epilepsy and on ASM may be more at risk of developing severe constipation. Some admissions may be avoided with earlier use of laxatives in the community. [ABSTRACT FROM AUTHOR]

(1) Background: The stress experienced by parents with children with developmental disorders who present temporary or permanent needs, makes them experience a series of daily situations that may be linked to coping strategies. Resilient attributes are considered one of the factors that have a decisive influence on the behavior of parents related to raising their children and that affect greater well-being and life satisfaction. The objective of this research is to study the mediating effect of resilient attributes between parental stress and life satisfaction; (2) Methods: In this study, mothers and fathers of boys and girls from 0 to 6 years old with developmental disorders from different Early Childhood Care Centers (CAIT) in the Province of Jaén (Andalusia) [Spain]. Of them, 96 are mothers (78.0%) and 27 are fathers (22.0%), with a mean age of 37.85 years (±5.043). The Parenting Stress Index-Short Form (PSI-SF), Resilience Scale (RS-14), and Satisfaction with Life Scale (SWLS) were used. The structural equations model (PLS-SEM) was applied to estimate the proposed theoretical model, from an explanatory-predictive perspective; (3) Results: The results showed the coefficients of determination Parental distress [(Q2 = 0.144); (R2 = 0.329)]; Personal competence [(Q2 = 0.106); (R2 = 0.246)]; Acceptance of self and life [(Q2 = 0.094); (R2 = 0.172)] and Life satisfaction [(Q2 = 0.182); (R2 = 0.563)], in the estimation of the reflective model, indicating a moderate fit; (4) Conclusions: The present investigation is not conclusive; however, the implications of these findings are discussed and suggestions for future research are considered. [ABSTRACT FROM AUTHOR]

This study compares two parent reports, the Mental Synthesis Evaluation Checklist (MSEC) and the Autism Treatment Evaluation Checklist (ATEC), with the Childhood Autism Rating Scale (CARS). The ATEC consists of four subscales, as follows: (1) expressive language, (2) sociability, (3) sensory awareness, and (4) health. The MSEC is complementary to the ATEC in measuring complex language comprehension. The parents of 143 autistic children, from 2 to 22 years of age (mean 6.7 ± 5.1 years), completed the MSEC and the ATEC questionnaires and a clinician assessed their CARS score. The CARS score correlated strongly with all parent reports, the complex language comprehension MSEC (r = 0.60, p < 0.0001), expressive language (r = 0.66, p < 0.0001), sociability (r = 0.58, p < 0.0001), sensory awareness (r = 0.71, p < 0.0001), and health (r = 0.53, p < 0.0001), as well as the total ATEC score (r = 0.75, p < 0.0001). The strongest correlation was between the CARS score and the composite of all five parent-reported scores (total ATEC + MSEC, r = 0.77, p < 0.0001). These results suggest a high fidelity of the MSEC and ATEC parent reports and especially of their composite score, total ATEC + MSEC. [ABSTRACT FROM AUTHOR]

Purpose: The TRAK1 gene is mapped to chromosome 3p22.1 and encodes trafficking protein kinesin binding 1. The aim of this study was to investigate the genotype--phenotype of TRAK1-associated epilepsy. Methods: Trio-based whole-exome sequencing was performed on a cohort of 98 patients with epilepsy of unknown etiologies. Protein modeling and the VarCards database were used to predict the damaging effects of the variants. Detailed neurological phenotypes of all patients with epilepsy having TRAK1 variants were analyzed to assess the genotype--phenotype correlations. Results: A novel TRAK1 compound heterozygous variant comprising variant c.835C > T, p.Arg279Cys and variant c.2560A > C, p.Lys854Gln was identified in one pediatric patient. Protein modeling and VarCards database analyses revealed that the variants were damaging. The patient received a diagnosis of early infantile epileptic spasms with a developmental disorder; he became seizurefree through valproate and adrenocorticotropic hormone treatment. Further results for six variants in 12 patients with epilepsy indicated that biallelic TRAK1 variants (including homozygous or compound heterozygous variants) were associated with epilepsy with developmental disorders. Among these patients, eight (67%) had epileptic spasms and seven (58%) were intractable to anti-seizure medicines. Moreover, eight patients experienced refractory status epilepticus, of which seven (88%) died in early life. To our knowledge, this is the first reported case of epilepsy caused by TRAK1 compound heterozygous variants. Conclusion: Biallelic TRAK1 variants can cause epilepsy and developmental disorders. In these patients, seizures progress to status epilepticus, suggesting a high risk for poor outcomes and the requirement of early treatment. [ABSTRACT FROM AUTHOR]

In this study, we sought to objectively and quantitatively characterize the prosodic features of autism spectrum disorder (ASD) via the characteristics of prosody in a newly developed structured speech experiment. Male adults with high‐functioning ASD and age/intelligence‐matched men with typical development (TD) were asked to read 29 brief scripts aloud in response to preceding auditory stimuli. To investigate whether (1) highly structured acting‐out tasks can uncover the prosodic of difference between those with ASD and TD, and (2) the prosodic stableness and flexibleness can be used for objective automatic assessment of ASD, we compared prosodic features such as fundamental frequency, intensity, and mora duration. The results indicate that individuals with ASD exhibit stable pitch registers or volume levels in some affective vocal‐expression scenarios, such as those involving anger or sadness, compared with TD and those with TD. However, unstable prosody was observed in some timing control or emphasis tasks in the participants with ASD. Automatic classification of the ASD and TD groups using a support vector machine (SVM) with speech features exhibited an accuracy of 90.4%. A machine learning‐based assessment of the degree of ASD core symptoms using support vector regression (SVR) also had good performance. These results may inform the development of a new easy‐to‐use assessment tool for ASD core symptoms using recorded audio signals. Lay Summary: This paper describes an experiment with a new acting‐out reading task in various social situations to investigate the speech prosody, such as pitch, voice volume, and speech rate, pausing affected by the traits of autism spectrum disorders (ASD). The results indicate that the stability and variability of prosody in reacting to different speakers' auditory stimuli in the same sentence can be utilized for automatic diagnosis or assessment of ASD. [ABSTRACT FROM AUTHOR]

Prefrontal synthesis (PFS) is a component of constructive imagination. It is defined as the process of mentally juxtaposing objects into novel combinations. For example, to comprehend the instruction "put the cat under the dog and above the monkey," it is necessary to use PFS in order to correctly determine the spatial arrangement of the cat, dog, and monkey with relation to one another. The acquisition of PFS hinges on the use of combinatorial language during early childhood development. Accordingly, children with developmental delays exhibit a deficit in PFS, and frequent assessments are recommended for such individuals. In 2018, we developed the Mental Synthesis Evaluation Checklist (MSEC), a parent-reported evaluation designed to assess PFS and combinatorial language comprehension. In this manuscript we use MSEC to identify differences in combinatorial language acquisition between ASD (N = 29,138) and neurotypical (N = 111) children. Results emphasize the utility of the MSEC in distinguishing language deficits in ASD from typical development as early as 2 years of age (p < 0.0001). [ABSTRACT FROM AUTHOR]

Background: Parents of children with developmental disorders (DD) or disabilities report greater parenting stress than parents of typically developing children. To minimise this stress, stressful factors need to be known and stress needs to be recognised early. The present cross‐sectional study aims to systematically assess and compare parenting stress in families of children with various types of disabilities. In addition, the assessment of parenting stress by attending paediatricians will be evaluated. Methods: We surveyed 611 parents about their parenting stress at the Children's Development Center (CDC). Three questionnaires, including the German versions of the Parenting Stress Index (PSI) and Impact on Family Scale (IOFS), were used to evaluate parenting stress. Furthermore, attending paediatricians assessed of the child's type of disability and their perception of parenting stress in a separate questionnaire. Results: Fifty‐five percent of all parents reported stress at a clinically relevant level, 65% in the child domain and 39% in the parent domain of the PSI. Parenting stress differed significantly across diagnostic categories (p < 0.01) and was associated with childhood disability related issues of behaviour, sleep or feeding issues. Parenting stress was often underestimated by the paediatricians, especially when the children had disabilities perceived as less severe. In one‐third of parents with clinically relevant total stress, paediatricians reported low stress levels. Parent‐reported financial problems, social isolation, and partnership conflicts were not suspected by paediatricians in ≥85% of cases. Conclusions: Clinically relevant parenting stress was found more often than in comparable studies. An assessment of parenting stress by paediatricians may be complicated by time constraints in medical appointments, the mainly child‐centred consultation, or restricted expression of parents' stress. Paediatricians should move from a purely child‐centred to a holistic, family‐centred approach to treatment. Routine screening of parenting stress using standardised questionnaires could be helpful to identify affected families. [ABSTRACT FROM AUTHOR]

Objective: Examine the effect of CNTNAP2 gene polymorphism on behavioral therapy response in Iraqi children with autism spectrum disorder using ABLLS-r. Methods: In this study, 150 samples for autism spectrum disorder were obtained from AL-SIBTEIN ACADEMY, however owing to many challenges, the final number of samples was 50 patients. Polymerase Chain Reaction-Restriction refers to a technique that combines the use of polymerase chain reaction (PCR) with restriction enzymes to amplify and analyze certain DNA sequences. Fragment Length Polymorphism (PCR-RFLP) was used to genotype the CNTNAP2 gene at rs7794745. All 25 ABLLS-R repertoires and all four primary components had their dependent parameters determined by aggregating and converting the ABLLS data to a percentage. This provided us with the proportion of finished assignments from each repertoire. Results: After correlating the genotype data (AA/AT/TT) with the behavioral therapy response as indicated by ABLLS-R, we only discovered a statistically significant difference between the frequency of AA/TT genotypes in the rs7794745 variant in patients and the social interaction domain. Conversely, the remaining 24 subdomains exhibited no discernible correlation. Conclusion: This research topic could provide significant information on targeting and categorizing which skill areas need to be developed based on genetic models' influence. [ABSTRACT FROM AUTHOR]

Membrane-less organelles (MLOs) formed through liquid-liquid phase separation (LLPS) are associated with numerous important biological functions, but the abnormal phase separation will also dysregulate the physiological processes. Emerging evidence points to the importance of LLPS in human health and diseases. Nevertheless, despite recent advancements, our knowledge of the molecular relationship between LLPS and diseases is frequently incomplete. In this review, we outline our current understanding about how aberrant LLPS affects developmental disorders, tandem repeat disorders, cancers and viral infection. We also examine disease mechanisms driven by aberrant condensates, and highlight potential treatment approaches. This study seeks to expand our understanding of LLPS by providing a valuable new paradigm for understanding phase separation and human disorders, as well as to further translate our current knowledge regarding LLPS into therapeutic discoveries.

Abstract Aim This study aimed to clarify the abnormalities in dopamine transporter (DAT) availability in drug‐naive adult patients with attention‐deficit/hyperactivity disorder (ADHD) and the relationship between ADHD symptoms and abnormalities in DAT availability. Methods Single‐photon emission tomography (SPECT) was performed using iodine‐123‐β‐carbomethoxy‐3β‐(4‐iodophenyltropane) (I‐123 β CIT) as a tracer to measure in vivo DAT availability in 20 drug‐naive patients with ADHD [mean age ± standard deviation (SD)]: 25 ± 3.44 years; male:female = 11:9] and 20 age‐ and sex‐matched healthy controls (HCs) (mean age ± SD: 23.9 ± 2.27 years). Comparisons of DAT availability between HCs and adult patients with ADHD and the association between symptom severity and DAT availability within the ADHD group were analyzed using Statistical Parametric Mapping 12. Results Drug‐naive adults with ADHD showed significantly reduced DAT availability in the bilateral nucleus accumbens compared with HCs. Correlation analyses revealed a negative correlation between the severity of inattentive symptoms in adult patients with ADHD and DAT availability in the bilateral heads of the caudate nucleus, indicating the association between severe inattentive symptoms and lower DAT availability in the caudate nucleus. Conclusion In drug‐naive adult patients with ADHD, DAT availability was reduced in the nucleus accumbens, an important part of the reward system. This finding indicates the importance of the DAT in the reward system in the pathogenesis of ADHD. Inattentiveness was associated with DAT availability in the caudate nucleus, suggesting involvement of the cortico‐striato‐thalamo‐cortical circuit.

Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually present with intractable seizures, developmental delay, and often have elevated risk for premature mortality. Numerous genes have been identified as a monogenic cause of DEE, including KCNB1. The voltage-gated potassium channel KV2.1, encoded by KCNB1, is primarily responsible for delayed rectifier potassium currents that are important regulators of excitability in electrically excitable cells, including neurons. In addition to its canonical role as a voltage-gated potassium conductance, KV2.1 also serves a highly conserved structural function organizing endoplasmic reticulum-plasma membrane junctions clustered in the soma and proximal dendrites of neurons. The de novo pathogenic variant KCNB1-p.G379R was identified in an infant with epileptic spasms, and atonic, focal and tonic-clonic seizures that were refractory to treatment with standard antiepileptic drugs. Previous work demonstrated deficits in potassium conductance, but did not assess non-conducting functions. To determine if the G379R variant affected KV2.1 clustering at endoplasmic reticulum-plasma membrane junctions, KV2.1-G379R was expressed in HEK293T cells. KV2.1-G379R expression did not induce formation of endoplasmic reticulum-plasma membrane junctions, and co-expression of KV2.1-G379R with KV2.1-wild-type lowered induction of these structures relative to KV2.1-WT alone, consistent with a dominant negative effect. To model this variant in vivo, we introduced Kcnb1G379R into mice using CRISPR/Cas9 genome editing. We characterized neuronal expression, neurological and neurobehavioral phenotypes of Kcnb1G379R/+ (Kcnb1R/+) and Kcnb1G379R/G379R (Kcnb1R/R) mice. Immunohistochemistry studies on brains from Kcnb1+/+, Kcnb1R/+ and Kcnb1R/R mice revealed genotype-dependent differences in the expression levels of KV2.1 protein, as well as associated KV2.2 and AMIGO-1 proteins. Kcnb1R/+ and Kcnb1R/R mice displayed profound hyperactivity, repetitive behaviors, impulsivity and reduced anxiety. Spontaneous seizures were observed in Kcnb1R/R mice, as well as seizures induced by exposure to novel environments and/or handling. Both Kcnb1R/+ and Kcnb1R/R mutants were more susceptible to proconvulsant-induced seizures. In addition, both Kcnb1R/+ and Kcnb1R/R mice exhibited abnormal interictal EEG activity, including isolated spike and slow waves. Overall, the Kcnb1G379R mice recapitulate many features observed in individuals with DEE due to pathogenic variants in KCNB1. This new mouse model of KCNB1-associated DEE will be valuable for improving the understanding of the underlying pathophysiology and will provide a valuable tool for the development of therapies to treat this pharmacoresistant DEE.

A conceptual summary of recent trends in the use of electroconvulsive therapy (ECT) for treatment-resistant behavioral problems associated with developmental disorders was provided in the previous review, and this review offers information needed for clinical practice. As it is essentially impossible to obtain evidence-based data in this regard, we have attempted to present a review of practical issues related to the implementation of ECT, such as the public perception by the media, and ethical issues where the target population may include children and adolescents. In addition, we described the assessment tools required for the symptom identification to be treated and the evaluation of symptom changes in response to treatment, which are necessary for determining whether ECT is valid even in treatment-resistant conditions. In order to complement the direct clinical experience of ECT practitioners needed to assess the appropriateness of the currently administered treatment, case reports from other countries were introduced to illustrate the ECT course in each case. To this end, the issues related to the practical process of safe and effective ECT have been summarized in relatively specific detail. [ABSTRACT FROM AUTHOR]

PUF60‐related developmental disorder (also referred to as Verheij syndrome), resulting from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting a wide range of body systems. These anomalies include ophthalmic coloboma, and congenital anomalies of the heart, kidney, and musculoskeletal system. Behavioral and intellectual difficulties are also observed. While less common than other features associated with PUF60‐related developmental disorder, for instance hearing impairment and short stature, identification of specific anomalies such as ophthalmic coloboma can aid with diagnostic identification given the limited spectrum of genes linked with this feature. We describe 10 patients with PUF60 gene variants, bringing the total number reported in the literature, to varying levels of details, to 56 patients. Patients were recruited both via locally based exome sequencing from international sites and from the DDD study in the United Kingdom. Eight of the variants reported were novel PUF60 variants. The addition of a further patient with a reported c449‐457del variant to the existing literature highlights this as a recurrent variant. One variant was inherited from an affected parent. This is the first example in the literature of an inherited variant resulting in PUF60‐related developmental disorder. Two patients (20%) were reported to have a renal anomaly consistent with 22% of cases in previously reported literature. Two patients received specialist endocrine treatment. More commonly observed were clinical features such as: cardiac anomalies (40%), ocular abnormalities (70%), intellectual disability (60%), and skeletal abnormalities (80%). Facial features did not demonstrate a recognizable gestalt. Of note, but remaining of unclear causality, we describe a single pediatric patient with pineoblastoma. We recommend that stature and pubertal progress should be monitored in PUF60‐related developmental disorder with a low threshold for endocrine investigations as hormone therapy may be indicated. Our study reports an inherited case with PUF60‐related developmental disorder which has important genetic counseling implications for families. [ABSTRACT FROM AUTHOR]

Background: Studies evaluating the association between prenatal ultrasounds and autism spectrum disorder (ASD) have largely produced negative results. Concern remains due to the rising identification of children with ASD and ultrasound use. Objective: To evaluate the association between prenatal ultrasound use and ASD. Methods: We used data from the Study to Explore Early Development, a multisite case‐control study of preschool‐aged children with ASD implemented during 2007–2012. We recruited cases from children receiving developmental disability services and randomly selected population controls from birth records. ASD case status was based on in‐person standardised assessments. We stratified analyses by pre‐existing maternal medical conditions and pregnancy complications associated with increased ultrasound use (ultrasound indications) and used logistic regression to model case status by increasing ultrasound counts. For pregnancies with medical record data on ultrasound timing, we conducted supplementary tests to model associations by trimester of exposure. Results: Among 1524 singleton pregnancies, ultrasound indications were more common for ASD cases than controls; respectively, for each group, no indications were reported for 45.1% and 54.2% of pregnancies, while ≥2 indications were reported for 26.1% and 18.4% of pregnancies. The percentage of pregnancies with multiple ultrasounds varied by case status and the presence of ultrasound indications. However, stratified regression models showed no association between increasing ultrasound counts and case status, either for pregnancies without (aOR 1.01, 95% CI 0.92, 1.11) or with ultrasound indications (aOR 1.01, 95% CI 0.95, 1.08). Trimester‐specific analyses using medical record data showed no association in any individual trimester. Conclusions: We found no evidence that prenatal ultrasound use increases ASD risk. Study strengths included gold‐standard assessments for ASD case classification, comparison of cases with controls, and a stratified sample to account for conditions associated both with increased prenatal ultrasound use and ASD. [ABSTRACT FROM AUTHOR]

Background: The family represents the most essential and supportive environment for children with cerebral palsy (CP). To improve children's outcomes, it is crucial to consider the needs of families in order to offer family-centered care, which tailors services to these needs. Objective: We conducted a needs assessment to identify the family needs of patients with CP attending two hospitals in Accra. Methods: The study was a cross-sectional study involving primary caregivers of children with CP attending neurodevelopmental clinics. Structured questionnaires were used to collect data spanning an 8-month period. The data were summarized, and statistical inference was made. Results: Service needs identified were childcare, counseling, support groups, financial assistance, and recreational facilities. Information needs included adult education, job training/employment opportunities, education, health and social programs, knowledge about child development, and management of behavioral and feeding/nutrition problems. Reducing extensive travel time was desirable to improve access to healthcare. With the increasing severity of symptoms came the need for improved accessibility in the home to reduce the child's hardship, as well as assistive devices, recreational facilities, and respite for the caregiver(s). Conclusion: Families of children with CP have information, service, and access needs related to their disease severity and family context. [ABSTRACT FROM AUTHOR]

A 43-year-old female patient presented to private dental clinic with a chief complaint of accumulated dirt and stains on teeth for the past two years. The patient expressed aesthetic discomfort and reported experiencing bad breath for approximately six months. No relevant medical, surgical, or habitual history was disclosed. During the general examination, the patient appeared well-oriented, co-operative, moderately built, and overall normal. Intraoral examination revealed generalised extrinsic stains, plaque, and calculus. No evidence of gingival pockets or recession was observed, leading to a diagnosis of generalised chronic gingivitis. The lingual surface of the tongue exhibited the absence of a lingual frenulum, resulting in an “abnormally moving tongue.” The dorsal surface of the tongue appeared depapillated and coated with food debris. Consequently, a scaling procedure was recommended. During scaling, the patient was instructed to retract her tongue to clean the lingual surface of the lower incisors. Unexpectedly, the patient folded her tongue back and placed it behind the uvula region. When asked to protrude the tongue forward, it extended beyond the chin.