Response to intervention as an identification strategy of the risk for dyslexia. / Resposta à intervenção como estratégia de identificação do risco para dislexia.

PURPOSE: To develop on intervention process to identify children at risk of dyslexia, based on the Response to Intervention model. Specifically, to identify the pattern of changes in post-intervention performance in tasks of phonological awareness, working memory, lexical access, reading and writing; and to analyze which cognitive functions had a significant effect on the discriminating students at risk of dyslexia. METHOD: Sample of 30 participants with Reading and writing difficulties, aged 8-11, from public/private schools, students from 3rd to 5th grade. Participants were submitted to a battery of cognitive-linguistic tests, before and after 12 intervention sessions. To monitor their performance, five reading and writing lists of words and pseudowords were applied. We qualitatively and quantitatively analyzed the differences in pre- and post-intervention performance of each participant; and among participants in the post-assessment, to understand the patterns of dyslexia vs non-dyslexia groups. RESULTS: There were statistically significant changes in: rapid automatized naming, narrative text comprehension, phonological awareness, rate and typology of hits/misses in reading and writing, and reading speed. Being the last three variables the most sensitive to discriminate the two groups, all with less post-intervention gains for the dyslexia group. CONCLUSIONS: The intervention focused on the stimulation of phonological skills and explicit and systematic teaching of graphophonemic correspondences contributed positively to the evolution of the group's participants. The intervention response approach favored the identification of children with a profile at risk for dyslexia, as distinct from children with other learning difficulties.

OBJETIVO: desenvolver um processo de intervenção para identificação de crianças em risco para dislexia, baseado no modelo de resposta à intervenção. Especificamente, identificar o perfil de mudança no desempenho pós-intervenção em tarefas de consciência fonológica, memória operacional, acesso lexical, leitura, escrita; e analisar quais funções cognitivas tiveram efeito significativo para discriminação de estudantes em risco para dislexia. MÉTODO: amostra composta por 30 participantes com dificuldades na leitura e escrita, entre 8 e 11 anos, de escola pública ou particular, estudantes do 3º ao 5º ano. Todos foram submetidos a uma bateria de testes cognitivo-linguísticos, antes e após a realização de 12 sessões de intervenção. Para monitoramento do desempenho foram aplicadas cinco listas de leitura e escrita de palavras/pseudopalavras. Foram realizadas análises, qualitativas e quantitativas, das diferenças de desempenho pré e pós-intervenção; e entre os participantes na pós avaliação, para compreensão de grupos perfil em risco para dislexia vs não-dislexia. RESULTADOS: ocorreram mudanças estatisticamente significativas em nomeação automática rápida, compreensão de texto, consciência fonológica, taxa e tipologia de acertos/erros na leitura/escrita e velocidade de leitura. Sendo essas três últimas variáveis as que se mostraram mais discriminativas dos grupos, todas com menos ganhos na pós-intervenção para o grupo com perfil em risco de dislexia. CONCLUSÃO: a intervenção com foco na estimulação das habilidades fonológicas e ensino explícito das correspondências grafofonêmicas contribuiu para a evolução dos participantes. A abordagem de resposta à intervenção favoreceu a identificação de crianças com perfil em risco para dislexia, as diferenciando de crianças com outras dificuldades de aprendizagem.

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables.

The 22q11.2 deletion syndrome (22q11.2DS) is associated with a heterogeneous neurocognitive phenotype, which includes psychiatric disorders. However, few studies have investigated the influence of socioeconomic variables on intellectual variability. The aim of this study was to investigate the cognitive profile of 25 patients, aged 7 to 32 years, with a typical ≈3 Mb 22q11.2 deletion, considering intellectual, adaptive, and neuropsychological functioning. Univariate linear regression analysis explored the influence of socioeconomic variables on intellectual quotient (IQ) and global adaptive behavior. Associations with relevant clinical conditions such as seizures, recurrent infections, and heart diseases were also considered. Results showed IQ scores ranging from 42 to 104. Communication, executive functions, attention, and visuoconstructive skills were the most impaired in the sample. The study found effects of access to quality education, family socioeconomic status (SES), and caregiver education level on IQ. Conversely, age at diagnosis and language delay were associated with outcomes in adaptive behavior. This characterization may be useful for better understanding the influence of social-environmental factors on the development of patients with 22q11.2 deletion syndrome, as well as for intervention processes aimed at improving their quality of life.

Changes in behavioral and cognitive abilities after rapid maxillary expansion in children affected by persistent snoring after long-term adenotonsillectomy: A noncontrolled study.

INTRODUCTION: The objective of this study was to verify changes in behavioral abilities and cognitive functions after rapid maxillary expansion (RME) in children with refractory sleep-disordered breathing (SDB) in the long term after adenotonsillectomy. METHODS: A prospective clinical trial study using RME therapy was conducted. Participant inclusion criteria were children who had adenotonsillectomy with maxillary transverse deficiency and persistent SDB (obstructive apnea-hypopnea index ≥1). The study included 24 children aged 5-12 years, and of these 24 children, 13 had primary snoring and 11 had obstructive sleep apnea. The patients underwent laryngeal nasofibroscopy and a complete polysomnography. In addition, patients completed the Obstructive Pediatric Sleep Questionnaire and Obstructive Sleep Apnea 18-Item Quality-of-Life Questionnaire. Behavioral and neurocognitive tests were also completed before and after RME. RESULTS: The Obstructive Pediatric Sleep Questionnaire and Obstructive Sleep Apnea 18-Item Quality-of-Life scores showed a statistically significant decrease in both groups (P <0.001) after RME. The results showed that neurocognitive and behavioral parameters (Child Behavior Checklist scale) were similar in primary snoring and obstructive sleep apnea (OSA) groups before RME. In the OSA group, the mean scores of the "Somatic" and "Aggressiveness" domains decreased significantly (P <0.05). The cognitive functions did not register significant differences pre- and post-RME in any of the cognitive functions, except for visuospatial function in the OSA group. CONCLUSIONS: The noncontrolled design was a major limitation of our study. The need for treatment for SDB should consider the association of symptoms and behavioral disturbances with the child's obstructive apnea-hypopnea index. RME might prove to be an alternative treatment for children with SDB refractory to adenotonsillectomy, improving quality of life and behavioral aspects. However, a larger sample size with a control group is needed to substantiate these claims.

Resposta à intervenção como estratégia de identificação do risco para dislexia / Response to intervention as an identification strategy of the risk for dyslexia

Resumo Objetivo desenvolver um processo de intervenção para identificação de crianças em risco para dislexia, baseado no modelo de resposta à intervenção. Especificamente, identificar o perfil de mudança no desempenho pós-intervenção em tarefas de consciência fonológica, memória operacional, acesso lexical, leitura, escrita; e analisar quais funções cognitivas tiveram efeito significativo para discriminação de estudantes em risco para dislexia. Método amostra composta por 30 participantes com dificuldades na leitura e escrita, entre 8 e 11 anos, de escola pública ou particular, estudantes do 3º ao 5º ano. Todos foram submetidos a uma bateria de testes cognitivo-linguísticos, antes e após a realização de 12 sessões de intervenção. Para monitoramento do desempenho foram aplicadas cinco listas de leitura e escrita de palavras/pseudopalavras. Foram realizadas análises, qualitativas e quantitativas, das diferenças de desempenho pré e pós-intervenção; e entre os participantes na pós avaliação, para compreensão de grupos perfil em risco para dislexia vs não-dislexia. Resultados ocorreram mudanças estatisticamente significativas em nomeação automática rápida, compreensão de texto, consciência fonológica, taxa e tipologia de acertos/erros na leitura/escrita e velocidade de leitura. Sendo essas três últimas variáveis as que se mostraram mais discriminativas dos grupos, todas com menos ganhos na pós-intervenção para o grupo com perfil em risco de dislexia. Conclusão a intervenção com foco na estimulação das habilidades fonológicas e ensino explícito das correspondências grafofonêmicas contribuiu para a evolução dos participantes. A abordagem de resposta à intervenção favoreceu a identificação de crianças com perfil em risco para dislexia, as diferenciando de crianças com outras dificuldades de aprendizagem.

ABSTRACT Purpose To develop on intervention process to identify children at risk of dyslexia, based on the Response to Intervention model. Specifically, to identify the pattern of changes in post-intervention performance in tasks of phonological awareness, working memory, lexical access, reading and writing; and to analyze which cognitive functions had a significant effect on the discriminating students at risk of dyslexia. Method Sample of 30 participants with Reading and writing difficulties, aged 8-11, from public/private schools, students from 3rd to 5th grade. Participants were submitted to a battery of cognitive-linguistic tests, before and after 12 intervention sessions. To monitor their performance, five reading and writing lists of words and pseudowords were applied. We qualitatively and quantitatively analyzed the differences in pre- and post-intervention performance of each participant; and among participants in the post-assessment, to understand the patterns of dyslexia vs non-dyslexia groups. Results There were statistically significant changes in: rapid automatized naming, narrative text comprehension, phonological awareness, rate and typology of hits/misses in reading and writing, and reading speed. Being the last three variables the most sensitive to discriminate the two groups, all with less post-intervention gains for the dyslexia group. Conclusions The intervention focused on the stimulation of phonological skills and explicit and systematic teaching of graphophonemic correspondences contributed positively to the evolution of the group's participants. The intervention response approach favored the identification of children with a profile at risk for dyslexia, as distinct from children with other learning difficulties.

The impact of inflammatory and metabolic markers on depression, anxiety, and cognition after COVID-19: A narrative review.

INTRODUCTION: There has been growing concern about the long-term effects of COVID-19 on mental health. The biological factors common to psychiatric conditions and COVID-19 are not yet fully understood. METHODOLOGY: We narratively reviewed prospective longitudinal studies that measured metabolic or inflammatory markers and assessed psychiatric sequalae and cognitive impairment in individuals with COVID-19 at least 3 months after the infection. A literature search identified three relevant cohort studies. RESULTS: Overall, depressive symptomatology and cognitive deficits persisted for up to one year after COVID-19; depression and cognitive changes were predicted by acute inflammatory markers, and changes in these markers correlated with changes in depressive symptomatology; female sex, obesity, and the presence of inflammatory markers were associated with more severe clusters of physical and mental health status in patients' self-perceived recovery; and plasma metabolic profiles of patients continued to differ from those of healthy controls three months after hospital discharge, which were associated with widespread alterations in neuroimaging, reflecting issues with white matter integrity. This is a non-systematic review and cautions should be made while interpreting the conclusions. CONCLUSION: In individuals affected by the COVID-19, prolonged exposure to stress and alterations in metabolic and inflammatory markers plays a central role in psychiatric sequalae and cognitive deficits in the long term.

Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria.

OBJECTIVE: To investigate the performance of 27 children with phenylketonuria (PKU) in tests of Executive Functions (EF) and Social Cognition (SC), and their associations with metabolic control inferred by phenylalanine (Phe) levels. METHODS: The PKU group was dichotomized according to baseline Phe-levels into; "classical PKU"(n = 14), with Phe-levels above 1200 µmol/L (> 20 mg/dL); and "mild PKU" (n = 13) with Phe-between 360 and 1200 µmol/L (6-20 mg/dL). The neuropsychological assessment focused on the EF and SC subtests of the NEPSY-II battery and intellectual performance. Children were compared to age-matched healthy participants. RESULTS: Participants with PKU presented significantly lower Intellectual Quotient (IQ) compared to controls (p = 0.001). Regarding EF analysis adjusted by age and IQ, significant differences between groups were observed only in the executive attention subtests (p = 0.029). The SC set of variables was significantly different between groups (p = 0.003), as in the affective recognition task (p < 0.001). In the PKU group, the relative variation of Phe-achieved 32.1 ± 21.0%. Relative Phe-variation was correlated only with measures of Working Memory (p < 0.001), Verbal Fluency (p = 0.004), Inhibitory Control (p = 0.035) and Theory of Mind (p = 0.003). CONCLUSIONS: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.

Influence of blood phenylalanine level variations on the development of executive functions and social cognition in children with phenylketonuria

Abstract Objective: To investigate the performance of 27 children with phenylketonuria (PKU) in tests of Executive Functions (EF) and Social Cognition (SC), and their associations with metabolic control inferred by phenylalanine (Phe) levels. Methods: The PKU group was dichotomized according to baseline Phe-levels into; "classical PKU"(n = 14), with Phe-levels above 1200 µmol/L (> 20 mg/dL); and "mild PKU" (n = 13) with Phe-between 360 and 1200 µmol/L (6-20 mg/dL). The neuropsychological assessment focused on the EF and SC subtests of the NEPSY-II battery and intellectual performance. Children were compared to age-matched healthy participants. Results: Participants with PKU presented significantly lower Intellectual Quotient (IQ) compared to controls (p = 0.001). Regarding EF analysis adjusted by age and IQ, significant differences between groups were observed only in the executive attention subtests (p = 0.029). The SC set of variables was significantly different between groups (p = 0.003), as in the affective recognition task (p < 0.001). In the PKU group, the relative variation of Phe-achieved 32.1 ± 21.0%. Relative Phe-variation was correlated only with measures of Working Memory (p < 0.001), Verbal Fluency (p = 0.004), Inhibitory Control (p = 0.035) and Theory of Mind (p = 0.003). Conclusions: Phonological Verbal Fluency, Working Memory, Inhibitory Control, and Theory of Mind were shown to be most vulnerable when there is non-ideal metabolic control. Variations in the level of Phe-may have a selective negative effect on Executive Functions and Social Cognition, but not on intellectual performance.

Educational status, testosterone replacement, and intelligence outcomes in Klinefelter syndrome.

Most male hypergonadotropic hypogonadism associated with infertility can be attributed to a single genetic condition such as Klinefelter syndrome (KS). This disease's wide phenotypic variability is frequently associated with mosaic 47,XXY lineages and testosterone replacement. Early diagnosis and treatment have been associated with better cognitive and intellectual outcomes, but the scope of this influence requires further investigation. Objective: This study aimed to investigate the intelligence profile of a cohort of patients with KS, considering the influence of educational level and clinical variables. Methods: Twenty-nine (9-65 years) individuals were submitted to the measures of intelligence quotient (IQ) (Wechsler's Scales) and adaptive behavior (Vineland-II). Linear regression analysis included the participants' educational level and clinical variables (i.e., comorbidities and use of testosterone) as predictors and intellectual performance and adaptive behavior as outcomes. Results: Scores varied from intellectual deficiency to average ranges (82.5+15.8). There were significant differences between adult's and children's IQ and between verbal and nonverbal indexes. The level of education predicted both IQ and adaptive behavior. Testosterone replacement therapy and absence of seizures predicted only adaptive behavior. Conclusions: The level of education and hormonal therapy can be selectively implicated in the intellectual variability in KS.

A maioria dos casos de hipogonadismo hipergonadotrófico masculino associado à infertilidade pode ser atribuída a uma única condição genética ­ a síndrome de Klinefelter (KS). A ampla variabilidade fenotípica dessa doença está frequentemente associada a linhagens de mosaico 47,XXY e também à reposição de testosterona. O diagnóstico e o tratamento precoces têm sido associados a melhores desfechos em termos de cognição e inteligência, mas o escopo dessa influência requer maior investigação. Objetivo: Este estudo investigou o perfil de inteligência de uma coorte de pacientes com KS, considerando a influência do nível educacional e das variáveis clínicas. Métodos: Vinte e nove indivíduos (9­65 anos) foram submetidos a medidas de quociente de inteligência (escalas Wechsler) e de comportamento adaptativo (escala Vineland-II). A análise de regressão linear considerou o nível educacional dos participantes e variáveis clínicas (comorbidades, uso de testosterona) como preditores e desempenho intelectual e comportamento adaptativo como desfechos. Resultados: Os resultados mostraram escores que variaram de deficiência intelectual à faixa média (82,5+15,8). Houve diferenças significativas entre os quocientes de inteligência de adultos e crianças e entre os índices verbais e não verbais. O nível educacional influenciou tanto o quociente de inteligência quanto o comportamento adaptativo. A terapia de reposição de testosterona e a ausência de convulsões influenciaram apenas o comportamento adaptativo. . Conclusões: Sendo assim, nível educacional e terapia hormonal podem estar seletivamente implicados na variabilidade intelectual na KS.

Weak central coherence in adults with ASD: Evidence from eye-tracking and thematic content analysis of social scenes.

Central Coherence Weakness has been defined as a tendency for local rather than global processing that may underlie core deficits in Autism Spectrum Disorder (ASD). In social contexts it may be expressed in difficulties to integrate social cues arising from the recognition of emotions in faces or from the environment in order to understand people's interactions. A sample of 28 adults diagnosed with ASD Level 1 and 25 controls was submitted to a cartoon-like task with the instruction to describe social scenes and to Navon letter stimuli. Both quantitative measures and qualitative (thematic content analysis) procedures were used to assess performance. Heatmap and fixation preferences according to the stimuli quadrants were used to investigate eye-tracking patterns. A tendency to local processing, independently of the stimuli type, in the ASD participants was observed. Data from visual tracking by quadrants and from verbal reports suggest loss of social cues important for understanding context. Their reaction time and response duration were increased in relation to controls. The findings corroborate the idea that weak central coherence may be part of the cognitive phenotype in ASD.

Autistic adults often report difficulties in interpreting social situations. These difficulties are commonly associated with a tendency to visually focus on specific parts of the situation (known as local processing) to the detriment of the whole situation. This way of looking at things has been given the name "weak central coherence," and may result in difficulties in understanding a situation or other people's behaviors. A group of ASD and controls were asked to describe two different types of image, one showing a common social situation, the other Navon figure. Eye-tracking technology was used to analyze how the participants looked at the images (which part of the image and for how long) and asked about what they had seen. The results showed that in the group of autistic participants there was a tendency to focus on the details in both types of images. The analysis of the verbal reports revealed that the interpretation of the social contexts by those with ASD was not what was expected, associated with a specific focus on details. These findings may be useful for a better understanding of some difficulties experienced by ASD in social contexts and contribute to therapeutic treatments.

Preserved executive functioning and low stress symptoms in children treated for acute lymphoblastic leukemia.

Pediatric cancer treatment can negatively impact cognitive and psychosocial development, although it has been suggested that these adverse effects may be minimized when children have higher resilience and better executive functioning. We aimed to evaluate the impact of pediatric Acute Lymphoblastic Leukemia (ALL) treatment on executive function, resilience and stress in survivors and to investigate correlations between executive functioning and resilience and between executive functioning and stress. The neuropsychological assessment was performed in 32 ALL survivors aged 7-17 years and 28 age-, sex- and socioeconomic status matched controls. Executive functioning was assessed by inhibitory control, mental flexibility and working memory tasks. Children's self-report scales were used to assess stress symptoms and resilience. Results revealed no executive function impairment nor stress symptom differences between ALL survivors and control group. In the ALL group, executive function and resilience were positively correlated, whereas executive function and stress were negatively correlated. We concluded that ALL treatment was not associated with impairment in executive functioning nor to increased stress symptoms in our sample. ALL survivors with better performance in mental flexibility and inhibition tasks reported fewer stress symptoms and more resilience, indicating a possible relationship between these variables.

Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern.

Klinefelter syndrome (KS) displays a broad dysmorphological, endocrinological, and neuropsychological clinical spectrum. We hypothesized that the neurocognitive dysfunction present in KS relies on an imbalance in X-chromosome gene expression. Thus, the X-chromosome inactivation (XCI) pattern and neurocognitive X-linked gene expression were tested and correlated with intelligence quotient (IQ) scores. We evaluated 11 KS patients by (a) IQ assessment, (b) analyzing the XCI patterns using both HUMARA and ZDHHC15 gene assays, and (c) blood RT-qPCR to investigate seven X-linked genes related to neurocognitive development (GTPBP6, EIF2S3, ITM2A, HUWE1, KDM5C, GDI1, and VAMP7) and XIST in comparison with 14 (male and female) controls. Considering IQ 80 as the standard minimum reference, we verified that the variability in IQ scores in KS patients seemed to be associated with the XCI pattern. Seven individuals in the KS group presented a random X-inactivation (RXI) and lower average IQ than the four individuals who presented a skewed X-inactivation (SXI) pattern. The evaluation of gene expression showed higher GTPBP6 expression in KS patients with RXI than in controls (p = 0.0059). Interestingly, the expression of GTPBP6 in KS patients with SXI did not differ from that observed in controls. Therefore, our data suggest for the first time that GTPBP6 expression is negatively associated with full-scale IQ under the regulation of the type of XCI pattern. The SXI pattern may regulate GTPBP6 expression, thereby dampening the impairment in cognitive performance and playing a role in intelligence variability in individuals with KS, which warrants further mechanistic investigations.

Psicoterapia online para idosos com sintomas depressivos em distanciamento físico: relato de uma experiência / Online psychotherapy for elderly people with depressive symptoms in physical distancing: report of an experience

O presente relato de experiência apresenta resultados preliminares de viabilidade e potencial de eficácia de um programa de psicoterapia breve online baseado em estratégias cognitivo-comportamentais para idosos com sintomas depressivos. Foram obtidos indicadores de boa adesão e observadas mudanças positivas em medidas de funcionamento cognitivo e de humor ao final das atividades, como hipotetizado. Nossos resultados se somam assim a evidências prévias de que intervenções psicoterapêuticas baseadas em Terapia Cognitivo Comportamental e realizadas por via remota são adequadas na abordagem clínica de indivíduos com sintomas de depressão. A população idosa pode ser especialmente beneficiada, uma vez que uma parcela significativa pode apresentar dificuldades para acessar serviços de saúde, em função de restrições físicas ou médicas, ou distância geográfica.

Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.

We aim to characterize patients with Gomez-López-Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single-nucleotide polymorphism (SNP) array and whole-exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high-resolution, heavily T2-weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid-face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non-scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid-face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology.

Assessment of Executive Functions after Treatment of Childhood Acute Lymphoid Leukemia: a Systematic Review.

Individuals treated for childhood acute lymphoblastic leukemia (ALL) have a high survival rate. This fact, however, may lead to neurocognitive impairments in survivors, as shown in some studies. The prefrontal cortex and executive functions seem to be particularly vulnerable due to the late maturation in the development process. Executive impairments have been associated with poorer quality of life in childhood cancer survivors. A systematic review was carried out with studies that assessed executive functions in childhood ALL survivors.\ Studies were collected from five electronic databases: MEDLINE (PubMed); PsycInfo; WebOfScience; LILACS and IBECS. Eighty-four studies were retrieved from the database search, of which 50 were read in full and 26 met the inclusion criteria. The studies were heterogeneous as to the instruments used to assess executive function, the skills assessed and the comparison methods. Despite some discrepancies, ALL survivors seem to exhibit poorer executive functioning than typical controls, but this result did not hold true when subjects were compared to normative mean. Changes in brain structure and dynamics resulting from the disease itself, the toxicity of the treatment and difficulties in coping with the stress during treatment may be related to executive impairments in ALL survivors. Discussion proposed standardized methods and measures for assessing executive functioning in children during and after ALL treatment.

Gomez-López-Hernández syndrome: A case report with clinical and molecular evaluation and literature review.

Gomez-López-Hernández syndrome (GLHS) is characterized by rhombencephalosynapsis (RES), alopecia, trigeminal anesthesia and a distinctive phenotype, including brachyturricephaly. It has been suggested that GLHS should be considered as part of the spectrum of RES-associated conditions that include alopecia, trigeminal anesthesia, and craniofacial anomalies, rather than a distinct entity. To the best of our knowledge, 57 patients with GLHS have been described. Despite its first description in 1979, the etiology of this syndrome remains unknown. Here, we describe, to our knowledge, the first case of a patient with GLHS who was molecularly evaluated and had been prenatally exposed to misoprostol. We also reviewed the clinical and morphological features of the patients described to date to better delineate the phenotype and focus on any evidence for adverse pregnancy outcomes or exposure, including teratogens.

Executive functions in children with dyslexia.

INTRODUCTION: This study aimed to verify whether children with dyslexia have difficulties in executive functions (shifting, working memory, inhibition). METHODS: A sample of 47 children (ages 8-13 years) participated in the study: 24 who were dyslexic and 23 controls with typical development. A battery of neuropsychological tests was used. RESULTS: Results revealed executive function difficulties among the dyslexic children when compared with controls, encompassing selective attention modulation processes, shifting, and inhibitory control. These difficulties appeared to be affected by phonological working memory deficits, typically associated with dyslexia. CONCLUSION: Our findings support the consensus among scholars regarding the central involvement of phonological skill dysfunctions in dyslexia.

Executive functions in children with dyslexia / Funções executivas em crianças com dislexia

ABSTRACT This study aimed to verify whether children with dyslexia have difficulties in executive functions (shifting, working memory, inhibition). Methods: A sample of 47 children (ages 8-13 years) participated in the study: 24 who were dyslexic and 23 controls with typical development. A battery of neuropsychological tests was used. Results: Results revealed executive function difficulties among the dyslexic children when compared with controls, encompassing selective attention modulation processes, shifting, and inhibitory control. These difficulties appeared to be affected by phonological working memory deficits, typically associated with dyslexia. Conclusion: Our findings support the consensus among scholars regarding the central involvement of phonological skill dysfunctions in dyslexia.

RESUMO O objetivo deste estudo foi verificar se crianças com dislexia têm dificuldades nas habilidades de funções executivas (shifting, memória operacional e inibição). Métodos: Uma amostra de 47 crianças (idades entre 8 e 13 anos) participaram do estudo: 24 crianças disléxicas e 23 crianças com desenvolvimento típico. Uma bateria de avaliação neuropsicológica foi usada. Results: Os resultados revelaram dificuldades nas funções executivas nas crianças disléxicas quando comparadas com as controle, envolvendo processos de modulação de atenção seletiva, shifting e controle inibitório. Essas dificuldades parecem ser afetadas pelos déficits na memória operacional fonológica, tipicamente associada à dislexia. Conclusion: Assim, nossos achados suportam o consenso de que a disfunção central da dislexia está nas habilidades fonológicas.

Downregulation of genes outside the deleted region in individuals with 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome (22q11.2DS) is caused by recurrent hemizygous deletions of chromosome 22q11.2. The phenotype of the syndrome is complex and varies widely among individuals. Little is known about the role of the different genes located in 22q11.2, and we hypothesized that genetic risk factors lying elsewhere in the genome might contribute to the phenotype. Here, we present the whole-genome gene expression data of 11 patients with approximately 3 Mb deletions. Apart from the hemizygous genes mapped to the 22q11.2 region, the TUBA8 and GNAZ genes, neighboring the deleted interval but in normal copy number, showed altered expression. When genes mapped to other chromosomes were considered in the gene expression analysis, a genome-wide dysregulation was observed, with increased or decreased expression levels. The enriched pathways of these genes were related to immune response, a deficiency that is frequently observed in 22q11.2DS patients. We also used the hypothesis-free weighted gene co-expression network analysis (WGCNA), which revealed the co-expression gene network modules with clear connection to mechanisms associated with 22q11.2DS such as immune response and schizophrenia. These findings, combined with the traditional gene expression profile, can be used for the identification of potential pathways and genes not previously considered to be related to the 22q11.2 deletion syndrome.

Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11. 2 Deletion Syndrome (22q11. 2DS) based on the Wechsler Scale / Perfil de desempenho intelectual de uma amostra brasileira de crianças e adolescentes com Síndrome da Deleção 22q11. 2 (22q11. 2DS)com base na Escala Wechsler

The 22q11.2 Deletion Syndrome (22q11.2DS), the most common human chromosome microdeletion syndrome, is associated with a very heterogeneous neurocognitive phenotype. One of the main characteristics of the syndrome spectrum is the intellectual variability, which encompasses average performance and intellectual disability and discrepancies between Verbal Intelligence Quotient and Performance Verbal Intelligence Quotient, with greater impairment in nonverbal tasks. The present study aimed at investigating the intellectual performance aspects of a 21children and adolescents sample from Brazil who had been diagnosed with 22q11.2DS, based on the Wechsler Intelligence Scale for Children - 4th edition. The samples were reviewed considering the differences between indices. The results revealed an Full Scale Intelligence Quotient predominant in the borderline range (42 to 104) and a significant discrepancy between the indices of Verbal Comprehension and Perceptual Reasoning in 42% of the sample. With regard to the performance in the subtests alone, a better performance was found in Similarities, whereas block design, matrix reasoning, digit span and letter-number sequencing subtests were the most challenging. These findings indicate that a comprehensive assessment of intellectual performance aspects covering the different measures of the Wechsler Intelligence Scale may contribute to a broader understanding of the neurocognitive phenotype associated with 22q11.2DS.

A Síndrome da Deleção 22q11.2 (SD22q11.2), microdeleção cromossômica mais frequente em humanos, é associada a um fenótipo neurocognitivo muito heterogêneo. Uma das principais características do espectro da síndrome é a variabilidade intelectual, que abrange de desempenho médio a deficiência intelectual, bem como discrepâncias entre Quociente de Inteligência Verbal e de Quociente de Inteligência de Execução, com maior prejuízo nas tarefas não verbais. O presente estudo teve por objetivo investigar aspectos do desempenho intelectual de uma amostra brasileira de 21 crianças e adolescentes diagnosticados com SD22q11.2, com base nos indicadores da Wechsler Intelligence Scale for Children - 4th edition. As amostras foram analisadas considerando diferenças entre os índices. Os resultados revelaram predomínio de Quociente de Inteligência Total na faixa limítrofe, entre 42 e 104, assim como discrepância significativa entre os índices de compreensão verbal e organização perceptual em 42% da amostra. No que concerne ao desempenho nos subtestes de forma isolada, um melhor resultado foi verificado em semelhanças, ao passo que cubos, raciocínio matricial, dígitos e sequência de números e letras foram os mais desafiadores. Esses achados indicam que uma avaliação abrangente de aspectos do desempenho intelectual contemplando as diversas medidas da Escala Wechsler de Inteligência pode contribuir para uma compreensão mais ampla do fenótipo neurocognitivo associado à SD22q11.2.

Brazilian Normative Data on Letter and Category Fluency Tasks: Effects of Gender, Age, and Geopolitical Region.

Verbal fluency is a basic function of language that refers to the ability to produce fluent speech. Despite being an essentially linguistic function, its measurements are also used to evaluate executive aspects of verbal behavior. Performance in verbal fluency (VF) tasks varies according to age, education, and cognitive development. Neurodevelopmental disorders that affect the functioning of frontal areas tend to cause lower performance in VF tasks. Despite the relative consensus that has been reached in terms of the use of VF tasks for the diagnosis of dyslexia and attention-deficit/hyperactivity disorder, few studies have considered regional variations in Brazil. The present study sought to provide normative data on VF tasks in children by considering gender, age, education, and geopolitical region of origin with auxiliary purposes in neuropsychological diagnosis of disorders that occur with executive changes The study included 298 participants, 7-10 years of age of both genders, who performed three letter fluency tasks and three category fluency tasks. The data were subjected to correlational and variance analyses, with age and gender as factors. No effect of gender on the children's performance was found. However, significant differences between age groups were observed, with better performance in letter tasks in older children and better performance in letter tasks compared with category tasks. Significant regional differences in performance on the letter VF task were observed. These results reinforce the importance of regional normative data in countries with high regional cultural variations, such as Brazil.