Teleneuropsychology intervention in phonological awareness for children with specific learning disorder with reading and mathematical difficulties.

Specific learning disorder (SLD) is a neurodevelopmental disorder that affects 5-15% of school-aged children worldwide. Often, difficulties in reading (SLD-RD) and mathematics (SLD-MD) occur together. Deficits in phonological awareness (PA) have been identified as the common factor between the two difficulties. Intervention in PA has been shown to be effective in SLD-RD; however, it is not clear whether it is also effective in SLD-MD. Neuropsychological intervention is usually conducted face-to-face, but when the patient is in a remote location or during extraordinary situations such as the COVID-19 pandemic, tele neuropsychology (TeleNP) may be a suitable alternative. The objective of this study was to evaluate the efficacy of a telerehabilitation program for PA to improve math skills in children with SLD-RD/SLD-MD. The study had an N-of-1 SCED design, and included six children aged 10-12 years with SLD-RD/SLD-MD. After four baseline measurements with an arithmetic verification paradigm, they were treated with TeleNP-PA. The effect on each participant was evaluated using visual analysis and the reliable change index. After the intervention, all participants showed improvement in arithmetic tasks, suggesting that the PA intervention had a positive influence on these skills.

Teleneuropsychology during the COVID-19 pandemic in Mexico: the perspective from a middle-income country.

INTRODUCTION: The use of teleneuropsychology (TeleNP) increased as a result of the COVID-19 pandemic; however, there have been no studies of the benefits and difficulties with this modality in middle-income countries. This study aimed to assess the current use of TeleNP in Mexico. METHOD: Mexican neuropsychologists were invited to participate in an online survey regarding the use of TeleNP during the COVID-19 pandemic. The survey was based on issues from a literature review and consisted of 36 questions requiring yes/no, multiple choice, or ordinal answers. The survey was created using Google Forms and asked respondents to provide informed consent. A total of 107 clinical neuropsychologists completed the survey. RESULTS: 82% of participants currently use TeleNP, and most reported learning about TeleNP through personal experience, literature research, and colleagues. Brief evaluations, delivery of results, and intervention were the principal services provided, most frequently on a home-to-home basis. Almost 30% of clinicians reported not requiring informed consent for use of the modality. Consultations included children, adolescents, and adults in similar numbers; older adults were less frequent. Technological limitations were the most frequent reason for ruling out the modality with particular patients. Perceived benefits included the ability to continue consultations despite social distancing measures, lesser risk of COVID-19 infection, and the possibility of seeing patients with limited access to neuropsychological services. Reasons for not using TeleNP included a lack of standardized instruments, not feeling comfortable with the modality, and lack of technological resources and skills. CONCLUSIONS: Despite the socioeconomic differences between Mexico and high-income countries, most of our findings were similar to reports from those countries. However, technological limitations were common, and smartphones were commonly used, contrary to recommendations in the literature. The future use of TeleNP in Mexico should include formal training and ethical guidelines.

A Systematic Review and a Latin American Clinical Model for Teleneuropsychological Assessment.

OBJECTIVE: The objective of this study is to propose a TeleNP model for remote assessment and offer practical recommendations for clinical practice with patients in Mexico and Latin America, based on a systematic literature review and clinical experience. METHOD: A systematic review of studies from 2011 to 2021 in English and Spanish used TeleNP, teleneuropsychology, telepsychology, online, assessment, teleneuropsicología, and evaluación for the search; the databases examined included PubMed, BiDi UNAM, ScienceDirect, Google Scholar, and Wiley One Library; the Oxford Centre for Evidence-Based Medicine system was used to grade the levels of evidence. The experience of the last two years of students and faculty in the Master's and Doctoral Programs in Psychology, Clinical Neuropsychology Residency Program, was also used as a basis for this guide. RESULTS: We propose a clinical model for TeleNP assessment in Mexico and Latin America based on the review of 31 articles and the practice of professors and students of clinical neuropsychology. CONCLUSION: The proposed model describes a procedure and adaptations for home-to-home clinical practice in the neuropsychological assessment of Mexican patients that could also be used in other Latin American countries. Its reliability remains to be assessed, but this model and the suggestions proposed could be used in future studies and clinical trials for Mexican and Latin American populations.

Neuropsychological Genotype-Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review.

Williams syndrome (WS) is a neurodevelopmental disorder caused by a microdeletion in the q11.23 region of chromosome 7. Recent case series reports and clinical case studies have suggested that the cognitive, behavioral, emotional, and social profile in WS could depend on the genes involved in the deletion. The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypical deletion and its probable relationship with the affected genes. The medical subject headings searched were "Williams syndrome," "genotype," "phenotype," "cognitive profile," and "atypical deletion." The studies included were in English or Spanish, with children and adults, and published between January 2000 and October 2022. Twenty-three studies are reported. The characteristics of the participants, the genes involved, the neuropsychological domains and instruments, and the prevalence of the WS cognitive profile criteria were used for the genotype-phenotype analysis. The genes with a major impact on the cognitive profile of WS were (a) LIMK1 and those belonging to the GTF2I family, the former with a greater influence on visuospatial abilities; (b) GTF2IRD1 and GTF2I, which have an impact on intellectual capacity as well as on visuospatial and social skills; (c) FZD9, BAZ1B, STX1A, and CLIP2, which influence the cognitive profile if other genes are also effected; and (d) GTF2IRD2, which is related to the severity of the effect on visuospatial and social skills, producing a behavioral phenotype like that of the autism spectrum. The review revealed four neuropsychological phenotypes, depending on the genes involved, and established the need for more comprehensive study of the neuropsychological profile of these patients. Based on the results found, we propose a model for the investigation of and clinical approach to the WS neuropsychological phenotype.

Social Cognition in Patients with Early-Onset Parkinson's Disease.

Social cognition (SC) deficits have been linked to Parkinson's disease (PD) but have been less well researched than general cognitive processes, especially in early-onset PD (EOPD), despite this population often having greater social and family demands. Most studies focus on recognition of facial emotion, theory of mind (ToM), and decision-making domains, with limited research reporting on social reasoning. The main objective of this work was to compare SC ability across four domains: emotional processing, social reasoning, ToM, and decision-making between patients with EOPD and healthy controls. Twenty-five nondemented patients with EOPD and 25 controls matched for sex, age, and educational level were enrolled. A battery that included six SC tests was administered to all study participants; a decision-making scale was completed by participants' partners. Statistically significant differences were found between patients with EOPD and controls in all subtests across the four SC domains studied. The EOPD group demonstrated worse performance on all tasks, with large effect sizes. Differences remained significant after adjusting for Montreal Cognitive Assessment (MoCA) test scores for all SC subtests except the decision-making scale and the Iowa gambling task. No significant correlations between SC and other clinical PD variables were found. Our study shows that patients with EOPD perform significantly below controls in multiple SC domains affecting recognition of facial emotion, social reasoning, ToM, and decision-making. Only decision-making seems to be mediated by overall cognitive ability. The confounding or contributing effect of other clinical PD variables should be studied further.

An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome.

An explanation for the social dysfunction observed in Williams syndrome may be deficits in social cognition. This study explored aspects of social cognition in children with Williams syndrome with different genotypes. The 12 participants included one with a 1.1 Mb deletion that retained the GTF2IRD1, GTF2I, and GTF2IRD2 genes, seven with a 1.5 Mb deletion that preserved the GTF2IRD2 gene, and four with a 1.8 Mb deletion with loss of all three genes. The participant retaining all three genes was found to have better performance on social judgment and first-order theory of mind tasks than the group with loss of all three genes. These results may reflect the influence of the GTF2I gene family on social cognition in Williams syndrome.

Behavioral Disorders of Preschool Children With Non-Syndromic Craniosynostosis.

Craniosynostosis is the premature closure of one or more cranial sutures that results in an abnormal skull shape. This condition has been associated with cognitive problems of different levels of severity in all developmental stages in a substantial percentage of children. However, the study of behavioral problems related to this condition has been scarce. The objective of this study was to determine if a sample of Mexican preschoolers with non-syndromic craniosynostosis had more clinical and adaptive behavioral problems than those of their peers. We assessed the behavior of 24 participants between 3 and 5 years of age with non-syndromic craniosynostosis as well as those of 27 healthy children. We used the Behavioral Assessment System for Children (BASC) parent's questionnaire. There were no significant differences between groups for any of the BASC scales, although a small proportion of children from both groups had high, clinically significant, scores on some of the Clinical, Adaptive and Global scales. While the relationship between craniosynostosis and behavioral problems is not clear, it is important to continue to assess conduct at several ages to detect possible problems that could be overlooked by the developmental characteristics during the preschool stage.

Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2.

Williams syndrome (WS) is a neurodevelopmental disorder that results from a heterozygous microdeletion on chromosome 7q11.23. Most of the time, the affected region contains ~1.5 Mb of sequence encoding approximately 24 genes. Some 5-8% of patients with WS have a deletion exceeding 1.8 Mb, thereby affecting two additional genes, including GTF2IRD2. Currently, there is no consensus regarding the implications of GTF2IRD2 loss for the neuropsychological phenotype of WS patients. OBJECTIVES: The present study aimed to identify the role of GTF2IRD2 in the cognitive, behavioral, and adaptive profile of WS patients. METHODS: Twelve patients diagnosed with WS participated, four with GTF2IRD2 deletion (atypical WS group), and eight without this deletion (typical WS group). The age range of both groups was 7-18 years old. Each patient's 7q11.23 deletion scope was determined by chromosomal microarray analysis. Cognitive, behavioral, and adaptive abilities were assessed with a battery of neuropsychological tests. RESULTS: Compared with the typical WS group, the atypical WS patients with GTF2IRD2 deletion had more impaired visuospatial abilities and more significant behavioral problems, mainly related to the construct of social cognition. CONCLUSIONS: These findings provide new evidence regarding the influence of the GTF2IRD2 gene on the severity of behavioral symptoms of WS related to social cognition and certain visuospatial abilities. (JINS, 2018, 24, 896-904).