Turner syndrome and neuropsychological abnormalities: a review and case series / Síndrome de Turner e alterações neuropsicológicas: uma revisão e série de casos

ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose-effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments.

RESUMO Objetivo: O objetivo deste estudo foi realizar a correlação genótipo-fenótipo entre os resultados de cariótipos e as alterações neurológicas e psiquiátricas apresentadas em pacientes com síndrome de Turner (ST). Métodos: Um estudo retrospectivo foi conduzido nos registros médicos de 10/140 pacientes com ST e deficiências neuropsicológicas atendidos pelo Serviço de Genética Clínica de um hospital do sul do Brasil. Ademais, uma revisão foi realizada pelas plataformas científicas PubMed e Biblioteca Virtual em Saúde (BVS) de artigos publicados entre 1o de janeiro de 2012 e 1o de janeiro de 2023. Foram selecionados 14 artigos em uma análise em duas etapas. Resultados: Nossa pesquisa mostrou potencial correlação entre alterações neurológicas e psiquiátricas em pacientes com ST. Esses achados corroboram os descritos por outros autores — como a elevada prevalência de dificuldades de aprendizagem ou intelectuais. Entretanto, nossa amostra encontrou mais episódios convulsivos do que os descritos em outros estudos. Conclusões: A correlação estabelecida pode ser devida ao efeito dose-dependente do cromossomo X, visto que nossa revisão sugere que o número de cromossomos sexuais ou o desenvolvimento hormonal está associado a habilidades ou deficiências verbais, sociais e cognitivas.

Comparison of Brain Function Between Medication-Naïve ADHD with and without Comorbidity in Chinese Children Using Resting-State fNIRS.

Background: This study used functional near-infrared spectroscopy (fNIRS) to investigate brain activation patterns in children with attention deficit hyperactivity disorder (ADHD) with and without additional comorbidities to identify disease-related biomarkers by the neuroimaging that will facilitate to make a diagnosis decision. Methods: In this study, 165 medication-naive children aged 7 to 15 years were recruited and categorized into four groups: ADHD, ADHD with learning disabilities (ADHD&LD), ADHD with oppositional defiant disorder (ADHD&ODD), and healthy controls. A multichannel fNIRS system was used to monitor hemodynamic changes at rest state in the prefrontal and temporal lobes of the brain. The amplitude of a low-frequency fluctuation (ALFF) matrix was calculated by summation and averaging of the square root of the signal power spectrum. One-way analysis of variance was used to identify statistical differences between channels. Results: All ADHD children presented significantly higher ALFF values in different brain regions when compared with the healthy controls. Patients with ADHD&LD exhibited higher ALFF values in the medial prefrontal cortex (P Ch38 = .01, P Ch48 = .01), temporal cortex (P Ch22 = .04, P Ch41 = .002, P Ch51 = .001), and the left ventrolateral prefrontal cortex (P Ch39 = .0009, P Ch50 = .001), whereas ADHD&ODD children were not significantly different to those diagnosed with ADHD. Conclusions: ADHD with learning disabilities (LD) possessed a different pathogenesis from ADHD, manifested as lower functional brain activity in the medial prefrontal cortex, temporal cortex, and the left ventrolateral prefrontal cortex, while ADHD&ODD did not present significant changes compared with ADHD. ODD-related symptoms may be part of ADHD symptoms rather than being an independent disorder.

Do gifted children without specific learning disabilities read more efficiently than typically developing children?

Introduction: There are no published data on the written language skills of gifted children (GC). The objective of the present study was to evaluate reading abilities of GC vs. normative data from typically developing French children (TDC). Like English, French is considered to be an opaque language. Method: GC completed the Wechsler Intelligence Scales and a battery of language tests. Only children with a score two standard deviations (SD) above the norm were included. GC with current or past academic difficulties or specific learning disorders were excluded. The GC's scores were compared with TDC's normative scores for language tests in a chi-square-test and corrected for multiple comparisons. Results: Forty-five GC were included. The highest GC's mean scores were for the WISC's Verbal Comprehension Index (VCI) and the lowest for the Processing Speed Index (from more than two SDs to one SD higher above the TDC's normative scores). GC were between 1.3 and 4.7 times more likely than TDC to achieve a high score. After correction, the distributions of the GC's and TDC's scores differed significantly with regard to spoonerism, phoneme deletion, and rapid automatic naming (p < 0.001), word and sentence repetition (p ≤ 0.007), and the reading of meaningful text (p = 0.03). GC and TDC did not differ significantly for reading meaningless texts and spelling accuracy. Discussion: As described in the literature, the GC in the present study had heterogeneous scores on the Wechsler Intelligence Scales. The GC performed better than TDC in assessments of the underlying skills of reading and when reading of meaningful texts. This advantage was lost in the absence of context, as shown by the lack of significant GC vs. TDC differences for reading meaningless texts and for spelling accuracy. Hence, GC presented a heterogeneous profile with regard to the underlying skills of reading and reading abilities. The present data should help to improve our understanding of GC's reading skills. In particular, it is now essential to determine which written language tests and which score thresholds are appropriate for identifying specific learning disorders in GC.

Technology-assisted instruction with teacher prompts on fraction multiplication word problems: A single-case design with visual analysis and Bayesian multilevel modeling.

This study examines the effects of technology-assisted instruction with teacher prompts on the ability to visualize and solve fraction multiplication word problems for four middle school students with learning disabilities. A multiple-probe design across participants, a type of single-case design, showed a functional relationship between the intervention and the targeted mathematical outcomes. Although there were some fluctuations over time, students demonstrated improvements from the baseline to intervention phases (Tau ranged from 0.76 to 1.00 for visualization and was 1.00 for problem-solving). Researchers employed Bayesian cumulative link mixed effects models to examine the moderating effects of word problem question types. Students showed greater maintenance effects on problem-solving than on visualization tasks, as reflected in changes in level (logit coefficient = 2.6) and trend (logit coefficient = 0.22). Students and teachers perceived vocabulary and multiplication fact practices, as well as the cognitive and metacognitive features embedded in the technology-assisted intervention, to be useful in learning targeted mathematics concepts. This study underscores the role of technology integration in enhancing teachers' instructional approach and in aiding students' acquisition and retention of mathematical concepts and skills.

Bullying Involvement and Subtypes of Disabilities: Who is Likely to be Affected by What?

The current study uses latent class analysis (LCA) and binary logistic regression analysis to explore profiles of bullying and how they might be associated with the types of disabilities. LCA was used to determine a categorization of involvement in bullying among youth with various types of disabilities. Binary logistic regression analysis was conducted to explore how profiles of bullying involvement might be associated with types of disabilities. The study uses the 2016 National Survey of Children's Health, a large-scale survey completed on children's health, ages 0-17, in the United States. A total of 139,923 households were screened for eligibility. The study participants consisted of 50,212 caregivers of a child who completed the survey. Findings revealed that among caregivers of children without disabilities, 79.5% reported that their child was uninvolved, and 20.5% reported that their child was a victim of bullying. Children in the developmental disabilities, speech and/or language disorders, and learning disabilities groups, showed significant odds of being in the bullying victim group compared to those without any disabilities. The study did not find that children in any disability groups were likely to be in the perpetrator group.

Where do neurodevelopmental conditions fit in transdiagnostic psychiatric frameworks? Incorporating a new neurodevelopmental spectrum.

Features of autism spectrum disorder, attention-deficit/hyperactivity disorder, learning disorders, intellectual disabilities, and communication and motor disorders usually emerge early in life and are associated with atypical neurodevelopment. These "neurodevelopmental conditions" are grouped together in the DSM-5 and ICD-11 to reflect their shared characteristics. Yet, reliance on categorical diagnoses poses significant challenges in both research and clinical settings (e.g., high co-occurrence, arbitrary diagnostic boundaries, high within-disorder heterogeneity). Taking a transdiagnostic dimensional approach provides a useful alternative for addressing these limitations, accounting for shared underpinnings across neurodevelopmental conditions, and characterizing their common co-occurrence and developmental continuity with other psychiatric conditions. Neurodevelopmental features have not been adequately considered in transdiagnostic psychiatric frameworks, although this would have fundamental implications for research and clinical practices. Growing evidence from studies on the structure of neurodevelopmental and other psychiatric conditions indicates that features of neurodevelopmental conditions cluster together, delineating a "neurodevelopmental spectrum" ranging from normative to impairing profiles. Studies on shared genetic underpinnings, overlapping cognitive and neural profiles, and similar developmental course and efficacy of support/treatment strategies indicate the validity of this neurodevelopmental spectrum. Further, characterizing this spectrum alongside other psychiatric dimensions has clinical utility, as it provides a fuller view of an individual's needs and strengths, and greater prognostic utility than diagnostic categories. Based on this compelling body of evidence, we argue that incorporating a new neurodevelopmental spectrum into transdiagnostic frameworks has considerable potential for transforming our understanding, classification, assessment, and clinical practices around neurodevelopmental and other psychiatric conditions.

Joint effect of docosahexaenoic acid intake and tobacco smoke exposure on learning disability in children and adolescents: a cross-sectional study from the NHANES database.

BACKGROUND: Docosahexaenoic acid (DHA) has been reported to be associated with the children's neurodevelopment, who may be exposed to tobacco smoke simultaneously. The evidence about joint effect of DHA intake and tobacco smoke exposure on children and adolescents' learning disabilities (LD) was limited. The objective of this study was to assess the joint effect of DHA intake and tobacco smoke exposure on children and adolescents' LD. METHODS: A cross-sectional analysis of the NHANES 1999-2004 was performed. Children and adolescents aged 6-15 years old were included. The outcome was diagnosed by parental report of ever health professionals or school representative-identified LD. Dietary DHA intake data were obtained by food frequency questionnaire and tobacco smoke exposure levels were evaluated by serum cotinine levels. Weighted univariable and multivariate logistic regression analyses were conducted to determine the joint effect of DHA intake and tobacco smoke exposure on LD in children and adolescents, with odds ratios (ORs) and 95% confidence intervals (CIs). This joint association was further assessed after stratification by age, gender, body mass index, the history of attention deficit disorder and seen mental health professional. RESULTS: We identified 5,247 children and adolescents in present study, of whom 593 (11.30%) had LD. After adjusting covariates, we observed children and adolescents with DHA intake (OR = 0.76, 95%CI: 0.61-0.96) was related to lower incidence of LD; children who exposure to tobacco smoke was related to higher incidence of LD (OR = 1.54, 95%CI: 1.07-2.23); children and adolescents who exposure to tobacco smoke and without DHA intake were related to highest odds of LD (OR = 2.08, 95%CI: 1.37-3.17, P for trend = 0.042), that was, DHA and tobacco smoke exposure may have a joint effect on the odds of LD in children and adolescents. Subgroup analyses suggested this joint effect was robust especially among children and adolescents with normal & underweight BMI and without the history of attention deficit disorder and seen mental health professional. CONCLUSION: Increasing the DHA intake and reducing tobacco smoke exposure may have a potential role in the prevention of LD in children and adolescents. This joint effect warrants further investigation by large-scale prospective study.

Specific learning disabilities and associated emotional-motivational profiles: a study in Italian university students.

In this study, we analyzed the emotional and motivational aspects characterizing the profile of university students with Specific Learning Disorders (SLD). We assessed 61 university students, 32 with SLD (age = 23.6) and 29 in the control group (age = 23.00). The results highlighted that individuals with SLD exhibit higher levels of anxiety and depression and lower resilience compared to the control group. The Multidimensional Perfectionism Scale - Short Form, which explores perfectionism, did not reveal differences between the groups. Conversely, lower scores emerged in SLD students for the intrinsic motivation sub-scales of the Academic Motivation Scale. This indicates less engagement in studying out of personal cognitive curiosity. The Self-Regulated Knowledge Scale - University, which measures various cognitive strategies, showed significantly lower scores in the SLD group for knowledge linking, knowledge training, and knowledge critique. This suggests a lower frequency with which SLD students attempt to connect new knowledge with what they already possess, apply their knowledge, ask questions, and critically analyze what they have learned. Therefore, psychological and motivational consequences are evident in this population and can impact well-being and quality of life.

Stress, resilience, and emotional well-being in children and adolescents with specific learning disabilities.

This article reviews the prevalence of stress and explores resilience factors in children and adolescents with specific learning disabilities (SLDs). We show that the increased stress and emotional challenges faced by this group are likely due to societal pressures and stigma. Recent findings on neuroendocrine changes in this population are discussed, suggesting a predisposition to psychiatric disorders. This review advocates for a societal shift towards the neurodiversity paradigm, which recognizes SLDs as natural variations in brain function, emphasizing individual strengths and promoting a more inclusive approach that values cognitive diversity. Such advocacy is likely important to combat stress and stigma in those with SLDs. This article also reviews recent work identifying resilience-promoting factors, such as perception of self and peer/teacher relationships, for enhancing emotional well-being and mental health for children and adolescents with SLD.

Investigating the Maintained Motor Skill Achievements in a Visual Praxis Based Occupational Therapy Program: Single Blind Randomized Follow up Study.

To examine the long-term effects of Visual Praxis Based Occupational Therapy Program on the motor skills of children with Specific Learning Disabilities. Ninety-six boys and girls were divided into two groups: Experimental (n = 48) and Control (n = 48). The Experimental group received Visual Praxis Based Occupational Therapy Program in two weekly sessions for 8 weeks. All participants were assessed with the Bruininks-Oseretsky Motor Proficiency Test-2 Brief Form at three-time points; pre-test, post-test, and follow-up. The experimental group showed superior results, Bruininks-Oseretsky Motor Proficiency Test-2 Brief Form's Fine Motor Precision, Fine Motor Integration, Bilateral Coordination, Balance, Speed and Dexterity, Upper Extremity Coordination and Total Score significantly increased after the intervention (p ≤ 0 0.05) and the scores were maintained at the follow-up (p > 0.05). The Visual Praxis Based Occupational Therapy Program intervention provided a retained positive effect in the development of motor skills in children with Specific Learning Disabilities.

Improving persuasive writing skills of high school students with specific learning disabilities: STOP and DARE strategy.

Writing skills, crucial for various forms of expression, depend on effective planning and self-regulation. Competent writers emphasise pre-writing activities and self-regulation nevertheless students with Specific Learning Disabilities (SLD) often struggle with writing, impacting their academic achievement. This study explored the efficacy of the STOP and DARE strategy, grounded in the Self-Regulated Strategy Development (SRSD) model, for teaching persuasive writing to four high school students diagnosed with SLD. The study employed a multiple probe across subjects design to assess the impact of STOP and DARE on various persuasive writing skills. The intervention involved rigorous implementation of the strategy over 12-21 sessions, occurring 3 days a week for 80-90 min each day. The results indicated a functional relation between the strategy's implementation and improvements in persuasive essay elements, text length, use of linking words and holistic quality. Moreover, participants expressed a high level of satisfaction with the intervention. Future research could consider investigating functional text elements in addition to basic persuasive text elements. Furthermore, the adaptability of the STOP and DARE strategy to different languages and its applicability in diverse writing types, as well as its effectiveness in varied linguistic and cultural contexts, should be explored.

[Anxiety disorders as comorbid conditions in neuropsychiatric diseases in children]. / Trevozhnye rasstroistva kak komorbidnye sostoyaniya pri psikhonevrologicheskikh zabolevaniyakh u detei.

The variants of heterotypic comorbidity of anxiety disorders (AD) with attention deficit hyperactivity disorder, autism spectrum disorders, speech and language development disorders, specific learning disabilities (dyslexia, dysgraphia, dyscalculia), migraine, tension type headache in children and adolescents are discussed. In cases of heterotypic comorbidity the patients with AD referrals to specialists may be primarily associated with their emotional problems. Meanwhile, the comorbidity of AD with these diseases leads to a deterioration of their clinical manifestations and a worsening of the prognosis, and anxiety symptoms often not only persist, but also increase with age. It should be borne in mind that AD in children with neurodevelopmental disorders contribute to a decrease in the quality of life, academic failure, have a negative impact on peer relationships and the family environment, and in young adulthood, patients have an increased risk of depression and substance abuse. Therefore, early intervention and a comprehensive therapeutic approach with a dynamic assessment of the patient's condition are becoming important. When choosing pharmacotherapy, it is advisable to choose medictions that have a complex effect on the pathogenetic mechanisms of the underlying disease and concomitant AD, which include Tenoten for children.

Examining Texting in the Classroom Between Adolescents Without and With Learning Disabilities: Do Classroom Climate and Academic Boredom Matter?

The present study investigated texting in the classroom through written (SMS) and instant (social media) messages comparatively between adolescents without and with LD. Also, applying the Social Cognitive Theory, the role of perceived classroom climate and academic boredom in texting in the classroom was co-examined through an explanatory mediation model. Overall, 439 students (59% girls) without LD and 408 students (47% girls) with LD, who both attended randomly selected Greek junior high schools of Mainstream Education and used a mobile phone, completed self-reported scales about the variables involved with reference to the Modern Greek language course. The results showed that texting in the classroom (through written/instant messages) was above average for both student subgroups, regardless of their gender. However, within a comparative perspective, texting in the classroom through instant (social media) messages was higher for students with LD. Furthermore, in the relationship between perceived classroom climate and texting in the classroom (through written/instant messages) academic boredom proved a full mediator for students without LD and a partial mediator for students with LD. The findings imply the need for psychoeducational interventions in the context of specific school courses, to strengthen differentiated dimensions of psychosocial classroom climate for adolescents without and with LD. Thus, positive academic emotions and minimized disruptive texting in the classroom could be achieved.

AI-Enhanced Dyscalculia Screening: A Survey of Methods and Applications for Children.

New forms of interaction made possible by developments in special educational technologies can now help students with dyscalculia. Artificial intelligence (AI) has emerged as a promising tool in recent decades, particularly between 2001 and 2010, offering avenues to enhance the quality of education for individuals with dyscalculia. Therefore, the implementation of AI becomes crucial in addressing the needs of students with dyscalculia. Content analysis techniques were used to examine the literature covering the influence of AI on dyscalculia and its potential to assist instructors in promoting education for individuals with dyscalculia. The study sought to create a foundation for a more inclusive dyscalculia education in the future through in-depth studies. AI integration has had a big impact on educational institutions as well as people who struggle with dyscalculia. This paper highlights the importance of AI in improving the educational outcomes of students affected by dyscalculia.

Reducing parenting stress in Chinese parents of children with learning disabilities with a mindful parenting program: A randomized controlled trial.

BACKGROUND: Parents raising children with Learning Disabilities (LDs) often face multiple challenges and high levels of parenting stress, especially in societies with intense academic competitions. Mindful parenting (MP) is an emerging approach that brings mindful awareness to parent-child interactions and is found effective in reducing parenting stress in various parent populations. AIMS: This study examined the effectivenesss of an 8-week online MP program on Chinese parents of children with LDs. METHODS AND PROCEDURES: A MP program was adapted and implemented in an online format with 69 parents of children with LDs. A randomized controlled trial design was used to examine the efficacy of the mindful parenting group compared with a wait-list control group. Parenting stress, mindful parenting and self-compassion were assessed pre- and post-intervention. OUTCOMES AND RESULTS: Compared with the wait-list control group, the MP group participants showed decreased parenting stress (d = 0.62, p < 0.05), improved mindful parenting (d = 0.63, p < 0.05), and increased self-compassion (d = 0.61, p < 0.05). CONCLUSIONS AND IMPLICATIONS: These findings support the effectiveness of an online MP intervention in reducing parenting stress and increasing mindful parenting and self-compassion among Chinese parents of children with LDs. The behavioral and intrapersonal aspects of MP are more amenable to improvement, whereas the attitudinal and interpersonal aspects, particularly non-judgmental acceptance and compassion towards the child, are resistant to change. Future studies should explore strategies to enhance these attitudinal aspects and interpersonal processes of MP.

Mental health services use among learning disabilities: data from a population-based study.

PURPOSE: People with learning disabilities have complex challenges and needs that differ from people without these conditions. Accessing needed health and mental health care may be affected by level of independence and severity of learning challenges. Our study examined factors and associations which impact help seeking and satisfaction with mental health care in a Canadian nationally representative sample. METHODS: Logistic regression and multinomial logistic regression was used to analyze the 2012 Canadian Community Health Survey- Mental Health (CCHS 2012) cross-sectional survey. We investigated the odds of distressed individuals (1) perceiving a need for mental health care, (2) seeking out professional mental health care, and (3) if their needs were met by mental health services. The presence of a learning disability was assessed as a moderator variable in all models. RESULTS: Distressed adults with learning disabilities did not perceive a need for mental health care as often as distressed adults without a learning disability (OR = 3.82;95%CI:1.64,8.93 vs. OR = 12.00;95%CI:9.19,15.67). Distressed adults with a learning disability weren't as likely to seek out mental health services, but were more satisfied with the mental health care they received as compared to adults without a learning disability. CONCLUSION: The findings suggest that adults with learning disabilities have unmet needs. They are less likely to perceive a need for treatment, or to seek treatment, when they are distressed. Future investigation is necessary to understand the factors that influence perceived need and treatment seeking in this under-served population.