Social cognition in children with neurofibromatosis type 1.

INTRODUCTION: Neurofibromatosis type 1 (NF1) is a genetic pathology that can lead to impaired social functioning that has a negative impact on patients' quality of life. To date, although the hypothesis of impaired social cognition has been proposed as a potential explanation for these difficulties, very few studies have focused on theory of mind in children with NF1. Furthermore, other complex sociocognitive abilities have never been investigated. The aim of the present study was to assess theory of mind, moral reasoning, and social information processing in children with NF1 compared with a control group. METHOD: We administered the Paediatric Evaluation of Emotions, Relationships and Socialization® to 38 children with NF1 aged between 8 years and 16 years 11 months (mean = 11.4, SD = 2.3) and 43 control children with comparable sociodemographic characteristics. RESULTS: Patients performed significantly worse than controls on moral reasoning and social information processing tests, but there was no significant difference on theory of mind. CONCLUSIONS: These results seem to confirm the presence of social cognition difficulties in NF1 that could explain, at least in part, their social difficulties, although not all dimensions are concerned. The differences between the processes we assessed are discussed in relation to the methodologies used to measure them, and raises questions about the complementarity of traditional tools and more ecological assessments.

Social cognition in adult survivors of brain tumors: studying the relationship between theory of mind and quality of life.

OBJECTIVE: The present study is the first to examine theory of mind (ToM) sequelae in a sample of adult survivors of primary brain tumors, and to investigate the assumed relationship between ToM and health-related quality of life (HRQoL). METHOD: Participants were 40 long-term adult survivors of primary brain tumors and 40 matched healthy controls. They completed ToM tests (Faux-Pas test and Advanced ToM task) and two questionnaires assessing HRQoL (36-Item Short-Form Health Survey and EORTC QLQ-C30/QLQ-BN20). Their relatives also completed an observer-rated version of the SF-36 questionnaire. RESULTS: Survivors performed worse than controls only on the Advanced ToM task. Overall, patients and caregivers reported more problems than healthy controls and their relatives regarding both global HRQoL and its social/emotional aspects. No relationship was found between ToM and HRQoL scores. CONCLUSION: Adult survivors of primary brain tumors may exhibit ToM deficits several years after treatment and report more problems on social/emotional HRQoL components. Our findings highlight the need to consider these late effects in survivors' long-term follow-up, even if the clinical involvement of ToM deficits still needs to be elucidated. The assessment of ToM deficits and their potential impact on survivors' everyday life is thoroughly discussed.

Perception and recognition of primary and secondary emotions by children with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a genetic disease that can lead to impaired social adaptation and functioning, thus affecting quality of life. To date, studies of these children's social cognition abilities have been scant and far from exhaustive. Therefore, the purpose of the present study was to assess the ability of children with NF1, compared with controls, to process facial expressions of emotions - not only including the usual primary emotions (happiness, anger, surprise, fear, sadness and disgust), but secondary emotions, too. To do so, the links between this ability and the characteristics of the disease (mode of transmission, visibility, and severity) were examined. A total of 38 children with NF1 aged 8-16 years 11 months (mean = 11.4, SD = 2.3) and 43 sociodemographically comparable control children performed the emotion perception and recognition tests of a social cognition battery. Results confirmed that the processing of primary and secondary emotions is impaired in children with NF1, but there were no significant links with either mode of transmission, severity, or visibility. These results encourage further comprehensive assessments of emotions in NF1, and suggest that investigations should be extended to higher level social cognition skills, such as theory of mind and moral judgments.

Comprehensive assessment of executive functioning following childhood severe traumatic brain injury: clinical utility of the child executive functions battery.

Objectives: To perform a detailed description of executive functioning following moderate-to-severe childhood traumatic brain injury (TBI), and to study demographic and severity factors influencing outcome. Methods: A convenience sample of children/adolescents aged 7-16 years, referred to a rehabilitation department after a TBI (n = 43), was compared to normative data using a newly developed neuropsychological test battery (Child Executive Functions Battery-CEF-B) and the BRIEF. Results: Performance in the TBI group was significantly impaired in most of the CEF-B subtests, with moderate to large effect sizes. Regarding everyday life, patients were significantly impaired in most BRIEF clinical scales, either in parent or in teacher reports. Univariate correlations in the TBI group did not yield significant correlations between the CEF-B and socio-economic status, TBI severity, age at injury, or time since injury. Conclusion: Executive functioning is severely altered following moderate-to-severe childhood TBI and is best assessed using a combination of developmentally appropriate neuropsychological tests and behavioral ratings to provide a comprehensive understanding of children's executive functions.

Assessing of executive functions in daily life in preterm children aged 3-4 years old from the "Behavior Rating Inventory of Executive Function-Preschool version" questionnaire.

Background: Executive functions (EFs) are a set of neuropsychological skills permitting solving problems in a new situation by regulating action, behavior, and emotional response. As cerebral maturation remains vulnerable in preterm children, a higher risk of developing cognitive disorders including EFs exist compared to term children. Aims: The aim of this study was to estimate the incidence of preschool EF impairments through proxy reports in children born preterm before 34 weeks of gestational age using the Behavior Rating Inventory of Executive Function-Preschool (BRIEF-P) version. Secondary aims were to report neonatal, child, or socioeconomic factors associated with EF disorders. Results: Parents of 357 children born preterm aged 3-4 years old completed the BRIEF-P version. Impairment in EFs was clinically significant for 13.5% of preterm children (n = 47; 95% CI = 0.10-0.18) compared to 5.1% in term children. A low parental socioeconomic level was significantly associated with impaired parent-rated EF (19.1% vs. 5.3%, p = 0.003). Conclusions: Proxy reports of EF impairment are about twice as frequent as in term children. EF difficulties are not related to neonatal or child severity factors in contrast with the parental socioeconomic level. Using a parent-rated questionnaire may be a useful and easy tool to identify early the daily life impact of EF disorders on clinical follow-up of preterm children.This study was recorded in the Clinical Trials Register under identifier NCT03700463.

Executive functions in preschool children with moderate hyperphenylalaninemia and phenylketonuria: a prospective study.

BACKGROUND: The risk of neuropsychological disorders appears to be high in hyperphenylalaninemia (HPA). The hypothesis of executive function impairment is prominent in accounting for the neuropsychological phenotype in phenylketonuria (PKU) and is suspected in moderate hyperphenylalaninemia (MHP). However, the issue of early onset of executive disorders remains. The aim of this study was to explore the hypothesis of early executive dysfunction in HPA patients and the possible links with certain metabolic variables according to the new international classifications for patients with PKU and MHP. A group of 23 HPA children (12 PKU, 11 MHP) aged 3 to 5 years was included and compared to 50 control children. The two groups were comparable in terms of socio-demographics (age, sex, parental education level). Executive functions were assessed using performance-based tests and daily life questionnaires (parents and teachers). RESULTS: Preschool HPA patients have comparable executive scores to control subjects. In contrast, PKU patients score significantly worse than MHP patients on 3 executive tests (verbal working memory, visual working memory and cognitive inhibition. There is no executive complaints in daily life (parents and teachers) for the 2 groups of patients. In addition, 3 correlations were identified between executive scores and Phe levels at inclusion, mean Phe level and variability of Phe levels throughout life. CONCLUSIONS: Thus, there appears to be evidence of early executive dysfunction in PKU preschool-children, but not in MHP children. Occasionally, certain metabolic indicators can predict executive difficulties in young children with PKU.

Associations between Adult Primary Brain Tumor Survivors' Behavioral Executive Functions, Health Related Quality of Life and their Caregivers' Health Related Quality : A cross-sectional study.

The present study focused on adult primary brain tumor (PBT) survivors' caregivers. The main objective was to study associations between PBT survivors' health-related quality of life (HRQOL), their behavioral executive functions (EF) and their caregivers' HRQOL. Forty PBT survivors of PBT and 37 caregivers (mostly patient's spouses 81.08%; n = 30) participated in the study. PBT survivors completed a cancer related Quality of Life (QOL) questionnaire. Caregivers completed informant rated HRQOL and behavioral EF reports relating to PBT survivors and a self-rated HRQOL questionnaire relating to themselves. Correlational and multiple regression analyses were conducted. No associations were found between caregivers' physical HRQOL and PBT survivors' HRQOL nor behavioral EF. Analyses yielded several significant correlations between caregivers' mental HRQOL and variables pertaining to PBT survivors' HRQOL and behavioral EF. Multiple regression analyses showed that caregivers' mental HRQOL is predicted by PBT survivors' mental HRQOL, global cancer-related QOL scores and global behavioral EF scores. This study provides evidence suggesting that during the survivorship phase, at an average of 3.67 (SD = 2.31) years following treatment for a PBT, caregivers mental HRQOL is linked to PBT survivors' long-term effects. These findings shed some light regarding post-cancer care for both PBT survivors and their caregivers.

Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.

Background: Mitochondrial disorders (MD) are metabolic diseases related to genetic mutations in mitochondrial DNA and nuclear DNA that cause dysfunction of the mitochondrial respiratory chain. Cognitive impairment and psychiatric symptoms are frequently associated with MD in the adult population. The aim of this study is to describe the neuropsychological profile in children and adolescents with MD. Methods: We prospectively recruited a sample of 12 children and adolescents between February 2019 and February 2020 in the Reference Center for Mitochondrial Disorders of Angers (France). Participants and their parents completed an anamnestic form describing socio-demographic data and completed the WISC-V (Wechsler Intelligence Scale for Children, 5th edition) and the Parent and Teacher forms of the BRIEF (Behavior Rating Inventory of Executive Function). Results: In our sample, the mean IQ (Intellectual Quotient) score was 87.3 ± 25.3. The score ranged from 52 to 120. Concerning executive functions, a significant global clinical complaint was found for parents (six times more than normal) and to a lesser extent, for teachers (among 3 to 4 times more). Levels of intelligence and executive functioning were globally linked in our cohort but dissociation remains a possibility. Conclusion: The results of this study show that MD can be associated to neuropsychological disorders in children and adolescents, especially regarding the intelligence quotient and the executive function. Our study also highlights the need for regular neuropsychological assessments in individuals with MD and developing brains, such as children and adolescents.

Development of inhibition and working memory in school-age Moroccan children.

Studies regarding executive functions (EFs) in children rarely focus on populations of North Africa countries. In this context, this research aimed to adapt EFs tests to the Moroccan context and provide preliminary normative data on the development of inhibitory control and working memory (WM). In addition, the executive performance of school-age Moroccan children was examined, as well as the effects of gender, parents' education level and multilingualism. The sample included 115 children at age 7 to 12 from Fes city. Results showed that the translation and adaptation steps were sufficient for the cross-cultural adaptation of the tasks. In addition, an overall effect of age on inhibition and WM performances was found, whereas gender and parents' education level showed non-significant effects. Multilingualism effects had a partial positive influence on EFs, with improved scores on a few executive tasks for multilingual children compared to their bilingual peers. Overall, results suggest that EFs in school-age Moroccan children operate on relatively homogeneous development trajectories, marked by improvements that differ according to tasks. As neuropsychological tools and normative data are still lacking in Morocco, this study helps better understand EFs development of children in this country.

Assessing executive functions in Brazilian children: A critical review of available tools.

The goal of this review is to perform a critical analysis of the instruments used to assess executive functions (EFs) in preschool and school-age children in Brazil. We identified 37 assessment measures through a systematic review. Some performance-based tests for assessing working memory and inhibition were identified. However, there is a lack of rating measures and instruments to assess flexibility and planning in clinical practice. We observed regional differences in the performance of EFs measures. One possible explanation may be the use of normative samples from more highly-developed regions to characterize performance in less-developed regions. However, there may be alternative explanations, such as variations in the exposure to testing and the adequacy of test materials in different regions. Joint efforts among research groups should be encouraged in order to obtain normative references that are more representative of the socio-cultural diversity of the country. This improvement is essential to better understand the typical and atypical development of EFs and how the peculiarities of each country's context and culture can impact its trajectory.

Neuropsychological Profile of Intellectually Gifted Children: A Systematic Review.

OBJECTIVE: The term intellectually gifted (IG) refers to children of high intelligence, which is classically measured by the intelligence quotient (IQ). Some researchers assume that the cognitive profiles of these children are characterized by both strengths and weaknesses, compared with those of their typically developing (TD) peers of average IQ. The aim of the present systematic review was to verify this assumption, by compiling data from empirical studies of cognitive functions (language, motor skills, visuospatial processing, memory, attention and executive functions, social and emotional cognition) and academic performances. METHOD: The literature search yielded 658 articles, 15 of which met the selection criteria taken from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses model. We undertook a qualitative summary, to highlight any discrepancies between cognitive functions. RESULTS: IG children exhibited better skills than TD children in a number of domains, including attention, language, mathematics, verbal working memory, shifting, and social problem solving. However, the two groups had comparable skills in visuospatial processing, memory, planning, inhibition, and visual working memory, or facial recognition. CONCLUSION: Although IG children may have some strengths, many studies have failed to find differences between this population and their TD peers on many other cognitive measures. Just like any other children, they can display learning disabilities, which can be responsible for academic underachievement. Further studies are needed to better understand this heterogeneity. The present review provides pointers for overcoming methodological problems and opens up new avenues for giftedness research.

Age-related changes of cognitive flexibility and planning skills in school-age Moroccan children.

North African countries such as Morocco are scarcely the focus of neuropsychological studies, although the role of culture in cognition processes is widely recognized. Currently, studies on flexibility and planning skills in the Moroccan context are still lacking and there are no adapted tools to assess these functions in the country. In this scenario, this study aimed to adapt the Child Executive Functions Battery (CEF-B) tasks and the playing cards task of the Behavioral Assessment of the Dysexecutive Syndrome for Children (BADS-C) to Morocco and provide preliminary normative data on the development of flexibility and planning. In addition, this study proposed to examine the effects of gender, parents' education level and multilingualism on executive development. To this end, six tasks of the CEF-B were adapted through a translation and back-translation process and administered to 115 children aged 7-12 years. Results showed that the adopted procedure was sufficient for the cross-cultural adaptation of the tasks. Analyses showed a continuous increase with age on executive performance in most of the variables. However, gender and parents' level of education showed mostly non-significant effects. On the other hand, a significant effect of multilingualism was found on the two analyzed functions, with better results for multilingual children if compared to their bilingual peers. In general, results suggest that the identified pattern of development is consistent with international studies. Although normative data on executive functions are still lacking in Morocco, this unprecedented study will help better understand their development in this context.

Adolescent School Bullying and Life Skills: A Systematic Review of the Recent Literature.

The health consequences of being involved in bullying and cyberbullying are well described for adolescents, but many questions related to the role played by their life skills remain unanswered. Accordingly, this systematic review aims to provide a clear overview of research on the relationships between bullying involvement as a bully, victim, bully-victim or bystander, and adolescents' life skills. This article systematically reviewed 71 relevant empirical studies that met the inclusion criteria, extracted from the PubMed, PsycINFO, Scopus, Sage, Wiley, and SpringerLink databases. Their main findings were categorized according to the three types of life skills described by the World Health Organization: decision-making/problem-solving skills, interpersonal and communication skills, and self-management skills. Results showed relatively consensual outcomes for communication and interpersonal skills (empathy, moral disengagement) and skills for managing stress (coping strategies). Other decision-making or interpersonal skills, such as executive function or theory of mind, were poorly explored, and require further research, if we are to understand how life skills may be involved in bullying. Taken together, our findings highlight methodological heterogeneity and measurement problems in bullying studies that make their results difficult to interpret. Recommendations for prevention/education health researchers and professionals are provided, emphasizing the importance of considering the sociocognitive development of adolescents in bullying prevention.

Executive functions and quality of life in children with neurofibromatosis type 1.

BACKGROUND: To examine the impact of executive function disorders on health-related quality of life (QoL) in children with neurofibromatosis type 1 (NF1), we conducted a prospective single-center study among 40 children with NF1 aged 8-12 years (mean = 9.7, SD = 1.4) and their parents, comparing them with 56 healthy control children matched for age, sex, parental education level, and handedness. We collected children's self-reports and parents' proxy reports of QoL with the Kidscreen-52 questionnaire, and measured executive functions by combining seven performance-based tests and a daily life questionnaire completed by parents and teachers. RESULTS: Several QoL domains were significantly impaired in the children with NF1, compared with healthy controls, mainly according to their parents' reports (3 out of 9 scales; Cohen's d: 0.57-0.76), with particularly low scores in the social support and peers and school environment domains. Executive function difficulties (Cohen's d: 0.64-1.72) significantly predicted the impairment of QoL domains as perceived by the children or their parents, regardless of the indirect indicators of learning disabilities. CONCLUSIONS: Both performance-based executive function scores and behavioral ratings of executive functions in daily life by parents and teachers were associated with low QoL levels in the children with NF1. The school environment and social integration appear to be particularly affected and should therefore be targeted in the management of the disease.

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series.

Background: Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain. Cognitive impairment is a common feature in adults with MD and psychiatric symptoms are associated with MD in up to 70% of the adult population. The aim of this study is to describe the psychiatric profile in children and adolescents with MD by focusing on the description of psychiatric symptoms. Methods: A cohort of 12 children and adolescents was prospectively recruited between February 2019 and February 2020 in the Reference Center for Mitochondrial Disorders of Angers (France). Participants and their parents completed an anamnestic form to provide socio-demographic data and completed the Global Assessment of Functioning scale, the Brief Psychiatric Rating Scale, the Child Depression Inventory, the Revised Children's Manifest Anxiety Scale, and the Conner's Rating Scale to evaluate the inattention/hyperactivity symptoms as well as the Quality of Life scale. Results: Four children (33.3%) were diagnosed with depressive symptoms. With regarding to anxiety, 6 children (50%) reported anxiety issues during the psychiatric interview and 3 children (25%) were suffering from anxiety according to the RCMAS scale. Compared to other children with chronic illnesses, the individuals in our cohort reported a lower overall quality of life score and lower scores in physical and social subscales. Conclusion: Our study shows that MD can lead to psychiatric disorders in children and adolescents, in particular anxiety and depression, as well as poor quality of life. This highlights the need for regular psychiatric assessments in individuals with developing brains, such as children and adolescents. We do not, however, have data regarding the neuropsychological profile of this population.

Executive functions in preschool-aged children with neurofibromatosis type 1: Value for early assessment.

Introduction: Executive functions (EFs) impairment is common in children with neurofibromatosis type 1 (NF1), and could be a significant vulnerability associated with this medical disorder. However, we still know little about EFs in preschool NF1. Our study assessed EFs in NF1 children using performance-based tests and daily life questionnaires, which combined the views of parents and teachers.Method: Seven classic experimental tasks were used to evaluate EFs in 33 NF1 children aged 3 to 5 years old, and BRIEF-P questionnaires were completed by their parents and teachers. These children's performance was compared with a control group of 52 healthy children matched in age, gender and socio-cultural status.Results: NF1 children have significantly lower scores for 5 out of 7 executive tasks than control children and significantly higher levels of EF concerns in the parent and teacher BRIEF-P ratings. The correlations between performance-based tests and questionnaires are weak.Conclusions: Our results support an early executive dysfunction in NF1 children and call for early and systematic assessment of EFs. Both performance-based tests and questionnaires are complementary tools to investigate early EFs dysfunction in children with NF1.

Development of executive functions in Lebanese children.

The current study focused on adapting EF tests for children to the Arabic language and examine the developmental trajectories of a sample of school-aged Lebanese children in four domains of EF (inhibition, flexibility, working memory, and planning). It also focused on examining the effects of gender and parental education level on EF performance. The study population included 100 Lebanese children aged from 6 to 12-years old who were grouped and comparable for age, gender, and parental level of education. Results revealed a main effect of age and level of education of parents while the effect of gender was non-significant.

Pieces of evidences of reliability of the Brazilian version of the Child Executive Functions Battery (CEF-B).

Executive dysfunctions are central symptoms in different neurological, developmental, and context-related conditions. The assessment of these functions is then essential in neuropsychological pediatric clinical practice. Given the need for reliable and valid evaluation batteries for clinical practice in Brazil, this study aimed to present the pieces of evidences of reliability of the Child Executive Functions Battery (CEF-B). A total of 230 Brazilian children with typical development aged between 7 and 12 years participated in the study. Internal consistency was determined by the split-half method, Cronbach's α, and Ω. In addition, measurements of test-retest reliability and intraclass coefficient were also performed. Retest indicators were mostly weak and moderate (between .43 and .75). Overvall, coefficients show a satisfactory internal consistency reliability for planning and inhibition measures (between .72 and .92). Considering the measures of WM, results were also satisfactory for both α and Ω indexes. This study revealed that the CEF-B has satisfactory internal consistency reliability coefficients. However, several tests have shown low reliability assessed through the test-retest method. In general, findings reveal interesting pieces of initial evidence of reliability of the Brazilian version. The methodological approach could be improved in future studies by including children with executive disorders.

Relationships between executive functioning and health-related quality of life in adult survivors of brain tumor and matched healthy controls.

INTRODUCTION: Few studies have considered health-related quality of life (HRQOL) as a primary outcome measure in adult survivors of primary brain tumor (PBT), and fewer still have studied the cognitive factors that may influence it. Research suggests that executive functions (EFs) are associated with HRQOL, but there is scant evidence to support this. The present study was conducted to (1) extend prior findings about HRQOL limitations in a sample of stable, long-term adult survivors of PBT, (2) investigate the associations between objective/reported EFs and HRQOL, and (3) identify the EFs that contribute most to HRQOL. METHOD: We recruited 40 survivors of PBT (> 2 years post-treatment) and 40 matched healthy controls. Participants completed an objective EF assessment (inhibition, working memory, shifting, and rule detection) and two self-report questionnaires probing EFs (Behavior Rating Inventory of Executive Function-Adult) and HRQOL (Medical Outcomes Study Short-Form 36). Participants' relatives completed observer-rated versions of these questionnaires. RESULTS: Patients' objective EF performances were relatively intact. However, patients and caregivers reported significantly more problems than healthy controls and their relatives, for both EFs and HRQOL. There were only negligible links between objective EFs and HRQOL, whereas numerous associations were found between reported EFs and HRQOL components. ANCOVA models revealed that specific reported EF processes contributed to both the physical and mental components of HRQOL, regardless of group. CONCLUSIONS: From a clinical point of view, this study demonstrates that even several years after end of treatment, adult PBT survivors experience substantial problems across different HRQOL domains. HRQOL assessment should therefore be part of the long-term follow-up of PBT survivors, and clinicians should consider EF limitations when designing appropriate survivorship care plans. These findings indicate that cognitive interventions targeting EFs could improve HRQOL.

Patient-reported functional executive challenges and caregiver confirmation in adult brain tumor survivors.

PURPOSE: The main objective of this study was to provide further information concerning the validity of patient-reported executive function (EF) in survivors of primary brain tumor (PBT) compared with a report provided by each patient's caregiver. METHODS: Forty survivors of PBT, 40 non-cancer controls and their proxies completed an assessment of functional executive disorders (e.g., planning, inhibition, shifting, action initiation). Comparisons of self and informant EF reports were examined, for both patients and non-cancer controls. The extent of the concordance between patients' reports and their caregivers' reports was also determined. RESULTS: PBT survivors and their caregivers reported more problems related to EF in contrast with the non-cancer comparison group (significant differences). There was a high level of agreement between patients' and caregivers' ratings within the patient group. CONCLUSIONS: This study provides evidence suggesting that at an average of 3.67 (SD = 2.31) years following treatment for a PBT, EF difficulties are reported by patients and their caregivers. This study establishes a consistency between what is reported by survivors and what is reported by those who frequently interact with them. Further research investigating the link between these ratings and quality of life as well as other functions is encouraged. IMPLICATIONS FOR CANCER SURVIVORS: This study's results demonstrate the importance of listening to PBT survivors' perception of EF difficulties. While not confirmed by neuropsychological evaluations, the functional executive challenges reported by these survivors' close relatives reflect what PBT survivors themselves report. Specialists should pay close attention to these difficulties to guarantee optimal post-cancer care.