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.

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.

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.

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.

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.

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.

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.

Face Scanning in Autism Spectrum Disorder and Attention Deficit/Hyperactivity Disorder: Human Versus Dog Face Scanning.

This study used eye tracking to explore attention allocation to human and dog faces in children and adolescents with autism spectrum disorder (ASD), attention deficit/hyperactivity disorder (ADHD), and typical development (TD). Significant differences were found among the three groups. TD participants looked longer at the eyes than ASD and ADHD ones, irrespective of the faces presented. In spite of this difference, groups were similar in that they looked more to the eyes than to the mouth areas of interest. The ADHD group gazed longer at the mouth region than the other groups. Furthermore, groups were also similar in that they looked more to the dog than to the human faces. The eye-tracking technology proved to be useful for behavioral investigation in different neurodevelopmental disorders.

Attentional Profiles and White Matter Correlates in Attention-Deficit/Hyperactivity Disorder Predominantly Inattentive Type.

Attention-deficit/hyperactivity disorder (ADHD) is a widely studied neurodevelopmental disorder. It is a highly heterogeneous condition, encompassing different types of expression. The predominantly inattentive type is the most prevalent and the most stable over the lifetime, yet it is the least-studied presentation. To increase understanding of its cognitive profile, 29 children with attention-deficit/hyperactivity disorder of predominantly inattentive type (ADHD-I) and 29 matched controls, aged 7-15 years, had their attentional abilities assessed through the Conners' continuous performance test. Diffusion tensor imaging data were collected for all of the participants using a 3.0-T MRI system. Fractional anisotropy (FA) values were obtained for 20 fiber tracts, and brain-behavior correlations were calculated for 42 of the children. The ADHD-I children differed significantly from the typically developing (TD) children with respect to attentional measures, such as the ability to maintain response-time consistency throughout the task (Hit RT SE and Variability), vigilance (Hit RT ISI and Hit RT ISI SE), processing speed (Hit RT), selective attention (Omissions), sustained attention (Hit RT Block Change), error profile (Response Style), and inhibitory control (Perseverations). Evidence of significant differences between the ADHD-I and the TD participants was not found with respect to the mean FA values in the fiber tracts analyzed. Moderate and strong correlations between performance on the attention indicators and the tract-average FA values were found for the ADHD-I group. Our results contribute to a better characterization of the attentional profile of ADHD-I individuals and suggest that in children and adolescents with ADHD-I, attentional performance is mainly associated with the white matter structure of the long associative fibers that connect anterior-posterior brain areas.

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.

Detailed molecular characterization of chromosomal rearrangements involving X-chromosome has been a key strategy in identifying X-linked intellectual disability-causing genes. We fine-mapped the breakpoints in four women with balanced X-autosome translocations and variable phenotypes, in order to investigate the corresponding genetic contribution to intellectual disability. We addressed the impact of the gene interruptions in transcription and discussed the consequences of their functional impairment in neurodevelopment. Three patients presented with cognitive impairment, reinforcing the association between the disrupted genes (TSPAN7-MRX58, KIAA2022-MRX98, and IL1RAPL1-MRX21/34) and intellectual disability. While gene expression analysis showed absence of TSPAN7 and KIAA2022 expression in the patients, the unexpected expression of IL1RAPL1 suggested a fusion transcript ZNF611-IL1RAPL1 under the control of the ZNF611 promoter, gene disrupted at the autosomal breakpoint. The X-chromosomal breakpoint definition in the fourth patient, a woman with normal intellectual abilities, revealed disruption of the ZDHHC15 gene (MRX91). The expression assays did not detect ZDHHC15 gene expression in the patient, thus questioning its involvement in intellectual disability. Revealing the disruption of an X-linked intellectual disability-related gene in patients with balanced X-autosome translocation is a useful tool for a better characterization of critical genes in neurodevelopment. © 2015 Wiley Periodicals, Inc.

Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

BACKGROUND: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype. CASE PRESENTATION: We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment delay, intellectual disability, who presents partial trisomy 1q32 and partial monosomy 11q25 inherited from a paternal balanced translocation identified by chromosome microarray and fluorescence in situ hybridization. CONCLUSION: Compared to patients from the literature, the patient's phenotype is more compatible to the 1q32 duplication's clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11. This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.

Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion.

The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.

Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement.

The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, with few patients described with molecular techniques. These patients present distinctive clinical findings including developmental delay and intellectual disability, minor dysmorphic facial features, epilepsy, and autistic behavior. Here we describe an interstitial rearrangement of chromosome 15 composed of a triplication -6.9 Mb from 15q11.2 to 15q13.2 followed by a duplication of -2.4 Mb from 15q13.2 to 15q13.3, defined using different approaches as MLPA, qPCR, array and FISH. FISH revealed that the middle part of the triplicated segment was in inverted position. The parental origin of the rearrangement was assessed using methylation assay and SNP array that revealed the maternal origin of the additional material. The patient presents most of the clinical features associated to 15q11.2 triplication: minor dysmorphic facial features, generalized epilepsy, absence seizures, intellectual disability, and autistic behavior. In conclusion, the use of more accurate molecular tools enabled a detailed investigation, providing the identification of intrachromosome duplication/triplication and bringing new light to the study of genetic causes of autistic disorders.

A model for pediatric and neuropsychological screening assessment of children with learning disabilities.

OBJECTIVES: The high frequency of learning difficulties, attention disorders or developmental delay in children in the early years of schooling has resulted in a greater demand for pediatric services. Such services generally include assessments covering various specialties, are lengthy and often inaccessible to families due to prohibitively high cost. This paper presents an economically efficient model of interdisciplinary diagnosis. METHODS: A group of 109 Brazilian students from public schools aged between 5 and 14 years old, referred by teachers for a history of learning disabilities, behavioral changes or language problems, was evaluated at the NANI (Nucleo de Atendimento Neuropsicologico Infantil). Assessments were performed simultaneously during a single day's attendance and comprised clinical-genetic examination, behavioral assessment and neuropsychological screening, specially developed for the process. The multiaxial system of DSM-IV was adopted for diagnostic description. RESULTS: The results revealed heterogeneity in diagnoses which included specific learning disorders (25.7%), mild intellectual disabilities (17.43%), as well as suspected dysmorphic features (11.93%). Logistic regression showed good sensitivity of neuropsychological screening in the detection of predictive factors for specific developmental disorders, while working memory (p=0.05) and language (p=0.02) problems were found to be higher risk. CONCLUSIONS: The model adopted proved to be useful for defining the diagnosis of several conditions in infancy, and can be incorporated into specialized clinics such as psychiatric or developmental pediatric services.

OBJETIVOS: A alta frequência de dificuldades de aprendizagem, distúrbios atencionais ou atraso no desenvolvimento cognitivo, em crianças nos primeiros anos de escolaridade, vem acarretando grande demanda por serviços de saúde. Tais serviços em geral abrangem avaliações em diversas especialidades, realizadas em períodos de tempo prolongados, frequentemente de pouca acessibilidade para as famílias devido ao alto custo. Neste trabalho apresenta-se um modelo de diagnóstico interdisciplinar economicamente viável. MÉTODOS: Foram avaliados os dados de um grupo de 109 alunos da rede pública de ensino entre 5 e 14 anos de idade, encaminhadas ao NANI (Nucleo de Atendimento Neuropsicológico Infantil) pelas professoras por apresentarem história de dificuldades de aprendizagem, alterações comportamentais ou problemas de linguagem oral. As avaliações foram realizadas conjuntamente em um único dia de atendimento e abrangeram exame clínico-genético, avaliação comportamental e uma triagem neuropsicológica qualitativa, especialmente desenvolvida para o processo. Adotou-se o sistema multiaxial do DSM-IV na descrição diagnóstica. RESULTADOS: Os resultados revelaram uma heterogeneidade de diagnósticos, incluindo transtornos específicos de aprendizagem (25,7%), deficiência intelectual leve (17,43%) e presença de dismorfias a esclarecer (11,93%). Análises de regressão logística evidenciaram boa sensibilidade da triagem neuropsicológica na detecção de fatores preditivos para transtornos específicos do desenvolvimento, sendo que problemas de memória operacional (p=0,05) e de linguagem (p=0.02) se evidenciaram como de maior risco. CONCLUSÕES: O modelo adotado mostrou-se útil, assim, na delimitação diagnóstica de queixas de diversas condições na infância, podendo ser incorporado em clínicas especializadas tais como psiquiátricas ou pediátricas.

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14.

We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture.