A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.

Chromosomal microarray (CMA) is the reference in evaluation of copy number variations (CNVs) in individuals with neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and/or autism spectrum disorder (ASD), which affect around 3-4% of the world's population. Modern platforms for CMA, also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH). These regions result from complete or segmental chromosomal homozygosis and may be indicative of uniparental disomy (UPD), inbreeding, population characteristics, as well as replicative DNA repair events. In this retrospective study, we analyzed CMA reading files requested by geneticists and neurologists for diagnostic purposes along with available clinical data. Our objectives were interpreting CNVs and assess the frequencies and implications of LCSH detected by Affymetrix CytoScan HD (41%) or 750K (59%) platforms in 1012 patients from the south of Brazil. The patients were mainly children with NDDs and/or congenital anomalies (CAs). A total of 206 CNVs, comprising 132 deletions and 74 duplications, interpreted as pathogenic, were found in 17% of the patients in the cohort and across all chromosomes. Additionally, 12% presented rare variants of uncertain clinical significance, including LPCNVs, as the only clinically relevant CNV. Within the realm of NDDs, ASD carries a particular importance, owing to its escalating prevalence and its growing repercussions for individuals, families, and communities. ASD was one clinical phenotype, if not the main reason for referral to testing, for about one-third of the cohort, and these patients were further analyzed as a sub-cohort. Considering only the patients with ASD, the diagnostic rate was 10%, within the range reported in the literature (8-21%). It was higher (16%) when associated with dysmorphic features and lower (7%) for "isolated" ASD (without ID and without dysmorphic features). In 953 CMAs of the whole cohort, LCSH (≥ 3 Mbp) were analyzed not only for their potential pathogenic significance but were also explored to identify common LCSH in the South Brazilians population. CMA revealed at least one LCSH in 91% of the patients. For about 11.5% of patients, the LCSH suggested consanguinity from the first to the fifth degree, with a greater probability of clinical impact, and in 2.8%, they revealed a putative UPD. LCSH found at a frequency of 5% or more were considered common LCSH in the general population, allowing us to delineate 10 regions as potentially representing ancestral haplotypes of neglectable clinical significance. The main referrals for CMA were developmental delay (56%), ID (33%), ASD (33%) and syndromic features (56%). Some phenotypes in this population may be predictive of a higher probability of indicating a carrier of a pathogenic CNV. Here, we present the largest report of CMA data in a cohort with NDDs and/or CAs from the South of Brazil. We characterize the rare CNVs found along with the main phenotypes presented by each patient and show the importance and usefulness of LCSH interpretation in CMA results that incorporate SNPs, as well as we illustrate the value of CMA to investigate CNV in ASD.

The role of the GABAergic cells of the median raphe region in reinforcement-based learning.

Learning and memory are important in everyday life as well as in pathological conditions. The median raphe region (MRR) contributes to memory formation; however, its precise role and the neurotransmitters involved have yet to be elucidated. To address this issue, we stimulated the MRR neurons of mice by chemogenetic technique and studied them in the operant conditioning and active avoidance tests. The virus carrier infected a variety of neuron types including both GABAergic and glutamatergic ones. Behavior was not influenced by stimulation. We hypothesize that the lack of effect was due to opposing effects exerted via GABAergic and glutamatergic neurons. Therefore, next we used VGAT-Cre mice that allowed the specific manipulation of MRR-GABAergic neurons. The stimulation did not affect behavior in the learning phase of the operant conditioning task, but increased reward preference and total responses when operant contingencies were reversed. The enhanced responsiveness might be a proclivity to impulsive behavior. Stimulation facilitated learning in the active avoidance test but did not affect reversal learning in this paradigm. Our findings suggest that MRR-GABAergic neurons are involved in both learning and reversal learning, but the type of learning that is affected depends on the task.

Temporal Appearance of Enhanced Innate Anxiety in Alzheimer Model Mice.

The prevalence of Alzheimer's disorder (AD) is increasing worldwide, and the co-morbid anxiety is an important, albeit often neglected problem, which might appear early during disease development. Animal models can be used to study this question. Mice, as prey animals, show an innate defensive response against a predator odor, providing a valuable tool for anxiety research. Our aim was to test whether the triple-transgenic mice model of AD shows signs of innate anxiety, with specific focus on the temporal appearance of the symptoms. We compared 3xTg-AD mice bearing human mutations of amyloid precursor protein, presenilin 1, and tau with age-matched controls. First, separate age-groups (between 2 and 18 months) were tested for the avoidance of 2-methyl-2-thiazoline, a fox odor component. To test whether hypolocomotion is a general sign of innate anxiety, open-field behavior was subsequently followed monthly in both sexes. The 3xTg-AD mice showed more immobility, approached the fox odor container less often, and spent more time in the avoidance zone. This effect was detectable already in two-month-old animals irrespective of sex, not visible around six months of age, and was more pronounced in aged females than males. The 3xTg-AD animals moved generally less. They also spent less time in the center of the open-field, which was detectable mainly in females older than five months. In contrast to controls, the aged 3xTg-AD was not able to habituate to the arena during a 30-min observation period irrespective of their sex. Amyloid beta and phospho-Tau accumulated gradually in the hippocampus, amygdala, olfactory bulb, and piriform cortex. In conclusion, the early appearance of predator odor- and open space-induced innate anxiety detected already in two-month-old 3xTg-AD mice make this genetically predisposed strain a good model for testing anxiety both before the onset of AD-related symptoms as well as during the later phase. Synaptic dysfunction by protein deposits might contribute to these disturbances.

Ovariectomy-induced hormone deprivation aggravates Aß1-42 deposition in the basolateral amygdala and cholinergic fiber loss in the cortex but not cognitive behavioral symptoms in a triple transgenic mouse model of Alzheimer's disease.

Alzheimer's disease is the most common type of dementia, being highly prevalent in elderly women. The advanced progression may be due to decreased hormone synthesis during post-menopause as estradiol and progesterone both have neuroprotective potentials. We aimed to confirm that female hormone depletion aggravates the progression of dementia in a triple transgenic mouse model of Alzheimer's disease (3xTg-AD). As pathological hallmarks are known to appear in 6-month-old animals, we expected to see disease-like changes in the 4-month-old 3xTg-AD mice only after hormone depletion. Three-month-old female 3xTg-AD mice were compared with their age-matched controls. As a menopause model, ovaries were removed (OVX or Sham surgery). After 1-month recovery, the body composition of the animals was measured by an MRI scan. The cognitive and anxiety parameters were evaluated by different behavioral tests, modeling different aspects (Y-maze, Morris water maze, open-field, social discrimination, elevated plus maze, light-dark box, fox odor, operant conditioning, and conditioned fear test). At the end of the experiment, uterus was collected, amyloid-ß accumulation, and the cholinergic system in the brain was examined by immunohistochemistry. The uterus weight decreased, and the body weight increased significantly in the OVX animals. The MRI data showed that the body weight change can be due to fat accumulation. Moreover, OVX increased anxiety in control, but decreased in 3xTg-AD animals, the later genotype being more anxious by default based on the anxiety z-score. In general, 3xTg-AD mice moved less. In relation to cognition, neither the 3xTg-AD genotype nor OVX surgery impaired learning and memory in general. Despite no progression of dementia-like behavior after OVX, at the histological level, OVX aggravated the amyloid-ß plaque deposition in the basolateral amygdala and induced early cholinergic neuronal fiber loss in the somatosensory cortex of the transgenic animals. We confirmed that OVX induced menopausal symptoms. Removal of the sexual steroids aggravated the appearance of AD-related alterations in the brain without significantly affecting the behavior. Thus, the OVX in young, 3-month-old 3xTg-AD mice might be a suitable model for testing the effect of new treatment options on structural changes; however, to reveal any beneficial effect on behavior, a later time point might be needed.

Investigation of Anxiety- and Depressive-like Symptoms in 4- and 8-Month-Old Male Triple Transgenic Mouse Models of Alzheimer's Disease.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most common form of dementia. Approximately 50% of AD patients show anxiety and depressive symptoms, which may contribute to cognitive decline. We aimed to investigate whether the triple-transgenic mouse (3xTg-AD) is a good preclinical model of this co-morbidity. The characteristic histological hallmarks are known to appear around 6-month; thus, 4- and 8-month-old male mice were compared with age-matched controls. A behavioral test battery was used to examine anxiety- (open field (OF), elevated plus maze, light-dark box, novelty suppressed feeding, and social interaction (SI) tests), and depression-like symptoms (forced swim test, tail suspension test, sucrose preference test, splash test, and learned helplessness) as well as the cognitive decline (Morris water maze (MWM) and social discrimination (SD) tests). Acetylcholinesterase histochemistry visualized cholinergic fibers in the cortex. Dexamethasone-test evaluated the glucocorticoid non-suppression. In the MWM, the 3xTg-AD mice found the platform later than controls in the 8-month-old cohort. The SD abilities of the 3xTg-AD mice were missing at both ages. In OF, both age groups of 3xTg-AD mice moved significantly less than the controls. During SI, 8-month-old 3xTg-AD animals spent less time with friendly social behavior than the controls. In the splash test, 3xTg-AD mice groomed themselves significantly less than controls of both ages. Cortical fiber density was lower in 8-month-old 3xTg-AD mice compared to the control. Dexamethasone non-suppression was detectable in the 4-month-old group. All in all, some anxiety- and depressive-like symptoms were present in 3xTg-AD mice. Although this strain was not generally more anxious or depressed, some aspects of comorbidity might be studied in selected tests, which may help to develop new possible treatments.

A New Player in the Hippocampus: A Review on VGLUT3+ Neurons and Their Role in the Regulation of Hippocampal Activity and Behaviour.

Glutamate is the most abundant excitatory amino acid in the central nervous system. Neurons using glutamate as a neurotransmitter can be characterised by vesicular glutamate transporters (VGLUTs). Among the three subtypes, VGLUT3 is unique, co-localising with other "classical" neurotransmitters, such as the inhibitory GABA. Glutamate, manipulated by VGLUT3, can modulate the packaging as well as the release of other neurotransmitters and serve as a retrograde signal through its release from the somata and dendrites. Its contribution to sensory processes (including seeing, hearing, and mechanosensation) is well characterised. However, its involvement in learning and memory can only be assumed based on its prominent hippocampal presence. Although VGLUT3-expressing neurons are detectable in the hippocampus, most of the hippocampal VGLUT3 positivity can be found on nerve terminals, presumably coming from the median raphe. This hippocampal glutamatergic network plays a pivotal role in several important processes (e.g., learning and memory, emotions, epilepsy, cardiovascular regulation). Indirect information from anatomical studies and KO mice strains suggests the contribution of local VGLUT3-positive hippocampal neurons as well as afferentations in these events. However, further studies making use of more specific tools (e.g., Cre-mice, opto- and chemogenetics) are needed to confirm these assumptions.

Median raphe region GABAergic neurons contribute to social interest in mouse.

Gamma-aminobutyric acid (GABA) is a well-known inhibitory neurotransmitter implicated in numerous physiological and pathological behaviors including social interest. Dysregulation of the median raphe region (MRR), a main serotoninergic nucleus, is also characterized by increased social problems. As the majority of MRR cells are GABAergic, we aimed to reveal the social role of these cells. Chemogenetic techniques were used in vesicular GABA transporter Cre mice and with the help of adeno-associated virus vectors artificial receptors (DREADDs, stimulatory, inhibitory or control, containing only a fluorophore) were expressed in MRR GABAergic cells confirmed by immunohistochemistry. Four weeks after viral injection a behavioral test battery (sociability; social interaction; resident-intruder) was conducted. The artificial ligand (clozapine-N-oxide, 1 mg/10 ml/kg) was administrated 30 min before the tests. As possible confounding factors, locomotion (open field/OF), anxiety-like behavior (elevated plus maze/EPM), and short-term memory (Y-maze) were also evaluated. Stimulation of the GABAergic cells in MRR had no effect on locomotion or working and social memory; however, it increased social interest during sociability and social interaction but not in resident-intruder tests. Accordingly, c-Fos elevation in MRR-GABAergic cells was detected after sociability, but not resident-intruder tests. In the EPM test, the inhibitory group entered into the open arms later, suggesting an anxiogenic-like tendency. We confirmed the role of MRR-GABAergic cells in promoting social interest. However, different subpopulations (e.g. long vs short projecting, various neuropeptide containing) might have divergent roles, which might remain hidden and requires further studies.

Stress Adaptation and the Brainstem with Focus on Corticotropin-Releasing Hormone.

Stress adaptation is of utmost importance for the maintenance of homeostasis and, therefore, of life itself. The prevalence of stress-related disorders is increasing, emphasizing the importance of exploratory research on stress adaptation. Two major regulatory pathways exist: the hypothalamic-pituitary-adrenocortical axis and the sympathetic adrenomedullary axis. They act in unison, ensured by the enormous bidirectional connection between their centers, the paraventricular nucleus of the hypothalamus (PVN), and the brainstem monoaminergic cell groups, respectively. PVN and especially their corticotropin-releasing hormone (CRH) producing neurons are considered to be the centrum of stress regulation. However, the brainstem seems to be equally important. Therefore, we aimed to summarize the present knowledge on the role of classical neurotransmitters of the brainstem (GABA, glutamate as well as serotonin, noradrenaline, adrenaline, and dopamine) in stress adaptation. Neuropeptides, including CRH, might be co-localized in the brainstem nuclei. Here we focused on CRH as its role in stress regulation is well-known and widely accepted and other CRH neurons scattered along the brain may also complement the function of the PVN. Although CRH-positive cells are present on some parts of the brainstem, sometimes even in comparable amounts as in the PVN, not much is known about their contribution to stress adaptation. Based on the role of the Barrington's nucleus in micturition and the inferior olivary complex in the regulation of fine motoric-as the main CRH-containing brainstem areas-we might assume that these areas regulate stress-induced urination and locomotion, respectively. Further studies are necessary for the field.

Etiology of intellectual disability in individuals from special education schools in the south of Brazil.

BACKGROUND: Intellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which directly interfere with interpersonal relationships and the environment. In Western countries, individuals with ID are overrepresented in the health system, often due to associated comorbidities, and its life-time cost places ID as one of the most expensive conditions of all diagnoses in the International Classification of Diseases. Most of the people affected (75%) live in low-income countries, suffer from malnutrition, lack health care, and do not have access to adequate treatment. The aim of this study was to obtain an estimate of the diagnostic status as well as the prevalence of familial ID among individuals with serious (moderate or severe) ID in a region of the State of Santa Catarina, investigating attendees of special education schools of the Florianópolis Macroregion. METHODS: This was a cross-sectional study conducted between August 2011 and August 2014, through a semi-structured screening questionnaire for the collection of relevant developmental, clinical, familial and educational data, applied in an interview to guardians of students of special education schools of the macroregion of Florianópolis. RESULTS: The participant special schools enrolled close to 1700 students during the study period and the questionnaire was applied to 849 (50.5%). The male to female ratio of the participants was 1.39:1. Clear etiologic explanations were relatively scarce (24%); most diagnoses referring only to the type and the degree of impairment and for the majority (61.4%) the cause was unknown. About half were sporadic cases within their families (considering three generations). For 44.2% at least one other case of an ID-related condition in the extended family was mentioned, with 293 (34.5%) representing potential familial cases. CONCLUSION: Here we describe the epidemiological profile, the available diagnostics, etiology, family history and possible parental consanguinity of participants with ID of special education schools in the South of Brazil. The main results show the need for etiological diagnosis and uncover the relevance of potential hereditary cases in a population where consanguineous unions have a relatively low frequency (0,6%) and highlight the need for public health actions.

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil.

Chromosomal microarray (CMA) is now recommended as first tier for the evaluation in individuals with unexplained neurodevelopmental disorders (ND). However, in developing countries such as Brazil, classical cytogenetic tests are still the most used in clinical practice, as reflected by the scarcity of publications of microarray investigation in larger cohorts. This is a retrospective study which analyses the reading files of CMA and available clinical data from 420 patients from the south of Brazil, mostly children, with neurodevelopmental disorders requested by medical geneticists and neurologists for diagnostic purpose. Previous karyotyping was reported for 138 and includes 17 with abnormal results. The platforms used for CMA were CYTOSCAN 750K (75%) and CYTOSCAN HD (25%). The sex ratio of the patients was 1.625 males :1 female and the mean age was 9.5 years. A total of 96 pathogenic copy number variations (CNVs), 58 deletions and 38 duplications, were found in 18% of the patients and in all chromosomes, except chromosome 11. For 12% of the patients only variants of uncertain clinical significance were found. No clinically relevant CNV was found in 70%. The main referrals for chromosomal microarrays (CMA) were developmental delay (DD), intellectual disability (ID), facial dysmorphism and autism spectrum disorder (ASD). DD/ID were present in 80%, facial dysmorphism in 52% and ASD in 32%. Some phenotypes in this population could be predictive of a higher probability to carry a pathogenic CNV, as follows: dysmorphic facial features (p-value = < 0.0001, OR = 0.32), obesity (p-value = 0.006, OR = 0.20), short stature (p-value = 0.032, OR = 0.44), genitourinary anomalies (p-value = 0.032, OR = 0.63) and ASD (p-value = 0.039, OR = 1.94). The diagnostic rate for CMA in this study was 18%. We present the largest report of CMA data in a cohort with ND in Brazil. We characterize the rare CNVs found together with the main phenotypes presented by each patient, list phenotypes which could predict a higher diagnostic probability by CMA in patients with a neurodevelopmental disorder and show how CMA and classical karyotyping results are complementary.

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil.

BACKGROUND: Currently, chromosomal microarrays (CMA) are recommended as first-tier test in the investigation of developmental disorders to examine copy number variations. The modern platforms also include probes for single nucleotide polymorphisms (SNPs) that detect homozygous regions in the genome, such as long contiguous stretches of homozygosity (LCSH) also named runs of homozygosity (ROH). LCHS are chromosomal segments resulting from complete or segmental chromosomal homozygosity, which may be indicative of uniparental disomy (UPD), consanguinity, as well as replicative DNA repair events, however also are common findings in normal populations. Knowing common LCSH of a population, which probably represent ancestral haplotypes of low-recombination regions in the genome, facilitates the interpretation of LCSH found in patients, allowing to prioritize those with possible clinical significance. However, population records of ancestral haplotype derived LCSH by SNP arrays are still scarce, particularly for countries such as Brazil where even for the clinic, microarrays that include SNPs are difficult to request due to their high cost. METHODS: In this study, we evaluate the frequencies and implications of LCSH detected by Affymetrix CytoScan® HD or 750 K platforms in 430 patients with neurodevelopmental disorders in southern Brazil. LCSH were analyzed in the context of pathogenic significance and also explored to identify ancestral haplotype derived LCSH. The criteria for considering a region as LCSH was homozygosis ≥3 Mbp on an autosome. RESULTS: In 95% of the patients, at least one LCSH was detected, a total of 1478 LCSH in 407 patients. In 2.6%, the findings were suggestive of UPD. For about 8.5% LCSH suggest offspring from first to fifth grade, more likely to have a clinical impact. Considering recurrent LCSH found at a frequency of 5% or more, we outline 11 regions as potentially representing ancestral haplotypes in our population. The region most involved with homozygosity was 16p11.2p11.1 (49%), followed by 1q21.2q21.3 (21%), 11p11.2p11.12 (19%), 3p21.31p21.2 (16%), 15q15 1q33p32.3 (12%), 2q11.1q12.1 (9%), 1p33p32.3 (6%), 20q11.21q11.23 (6%), 10q22.1q23.31 (5%), 6p22.2p22 (5%), and 7q11.22q11.23 (5%). CONCLUSIONS: In this work, we show the importance and usefulness of interpreting LCSH in the results of CMA wich incorporate SNPs.

Análise comparativa de fórmulas preditivas de avaliação da capacidade funcional com o teste cardiopulmonar de jogadoras de futebol profissional / Análisis comparativo de fórmulas predictivas de evaluación de la capacidad funcional con la prueba cardiopulmonar de jugadoras de fútbol profesional / Comparative analysis of predictive formulas for the evaluation of functional capacity with cardiopulmonary test in professional female soccer players

RESUMO Comparar a validade de duas fórmulas de predição do consumo de oxigênio (VO2) com os valores obtidos no teste cardiopulmonar (TCP) em esteira ergométrica de jogadoras de futebol profissional. Dezoito jogadoras de futebol profissional foram submetidas ao TCP em esteira em um protocolo de carga incremental. Na sequência, foi determinado o VO2 da potência do limiar anaeróbio ventilatório (LAV) e no pico do exercício físico. Posteriormente, as fórmulas de predição de VO2 - i) VO2 = (0,2 x velocidade) + (0,9 x velocidade x inclinação) + 3,5 - velocidade em mph e inclinação %); e ii) MET (equivalente metabólica) = 6xHRI-5, onde HRI = frequência cardíaca máxima/frequência cardíaca de repouso - foram aplicadas nas mesmas potências para comparação. Para a primeira fórmula foi observado que tanto no LAV como no pico do TCP, os dados obtidos ficaram abaixo do previsto, sugerindo que a fórmula superestima o VO2 e, consequentemente, a capacidade e a potência aeróbicas. Na segunda fórmula foi observado que os valores ficaram abaixo do obtido, sugerindo que a fórmula subestimou o VO2 e, consequentemente a potência aeróbica, e mais uma vez a capacidade funcional. Diante disso, as fórmulas de predição não mostraram similaridade na determinação da capacidade funcional (CF) de jogadoras de futebol profissional, sugerindo não serem recomendadas para essa população.

RESUMEN Comparar la validez de dos fórmulas para predecir el consumo de oxígeno (VO2) con los valores obtenidos en la prueba cardiopulmonar (PCP) en una cinta de correr de jugadoras de fútbol profesionales. Dieciocho jugadoras de fútbol profesional se sometieron al PCP en cinta de correr en un protocolo de carga incremental. En la secuencia, se determinó el VO2 de la potencia del Umbral Anaeróbico Ventilatorio (UAV) y en el pico del ejercicio físico. Posteriormente, las fórmulas de predicción de VO2 -i) VO2 = (0,2 × velocidad) + (0,9 × velocidad × inclinación) + 3,5 − velocidad en mph e inclinación %); y ii) MET (equivalente metabólico) = 6xHRI−5, donde HRI = frecuencia cardiaca máxima/frecuencia cardíaca de reposo- se aplicaron en las mismas potencias para comparación. Para la primera fórmula se observó que tanto en la UAV como en el pico del PCP, los datos obtenidos quedaron por debajo de lo previsto, sugiriendo que la fórmula sobrestima el VO2 y, consecuentemente, la capacidad y la potencia aeróbica. En la segunda fórmula se observó que los valores quedaron por debajo de lo obtenido, sugiriendo que la fórmula subestimó el VO2 y, consecuentemente, la potencia aeróbica, y una vez más la capacidad funcional. Por lo tanto, las fórmulas de predicción no mostraron semejanza en la determinación de la capacidad funcional (CF) de las jugadoras de fútbol profesional, sugiriendo que no son recomendadas para esa población.

ABSTRACT To compare the validity of two oxygen consumption (VO2) prediction formulas with the values obtained through cardiopulmonary exercise test (CPT) in a treadmill with professional female soccer players. Eighteen professional female soccer players performed CPT in a treadmill with an incremental protocol. The VO2 of the gas exchange threshold (GET) was determined, as well as at peak exercise. After that, the following formula of VO2prediction i) VO2 = (0.2 x velocity) + (0.9 x velocity x incline) + 3.5 - velocity, in mph and %incline); and ii) MET (metabolic equivalent) = 6xHRI-5, where HRI = maximum heart rate/resting heart rate, were applied in the same power for comparison. In the first formula, the values obtained in GET and at peak exercise were below the estimated, indicating that the formula overestimated VO2 and, consequently, aerobic capacity and power. In the second formula, the values were below the estimated, indicating that the formula also underestimated VO2 and, consequently, aerobic capacity and power. Given these results, the prediction formulas do not present similarity in determining the functional capacity (FC) of professional female soccer players, indicating they are not suitable for this population.

INFLUÊNCIA DO HÁBITO DE EXERCÍCIO NA INFÂNCIA E ADOLESCÊNCIA NA FLEXIBILIDADE DE ADULTOS SEDENTÁRIOS / INFLUENCE OF EXERCISE HABITS DURING CHILDHOOD AND ADOLESCENCE ON FLEXIBILITY OF SEDENTARY ADULTS / INFLUENCIA DE LOS HÁBITOS DE EJERCICIO EN LA INFANCIA Y LA ADOLESCENCIA SOBRE LA FLEXIBILIDAD DE ADULTOS SEDENTARIOS

RESUMO Introdução: A flexibilidade corporal é um dos componentes da aptidão física relacionada com a saúde e desempenho físico. Esse componente tende a diminuir com o envelhecimento, sendo passível de modificação por treinamento específico; por outro lado, essas adaptações favoráveis tendem a desaparecer com destreinamento. Objetivo: Avaliar a influência do histórico de exercício físico e/ou participação desportiva competitiva na juventude sobre a flexibilidade corporal em adultos que foram pouco ativos ou sedentários nos últimos cinco anos. Métodos: Análise retrospectiva de 1.388 indivíduos avaliados entre 2012 e 2015. Após aplicação de critérios de exclusão, a amostra final incluiu 533 adultos (63,6% homens; 20-94 anos de idade) pouco ativos ou sedentários nos últimos cinco anos. Em uma breve entrevista foram obtidos os perfis de exercício físico na infância/adolescência (PEFIA) e nos últimos cinco anos de vida. Esses perfis foram agrupados em três categorias, em função da quantidade mínima de exercício recomendado para cada idade, como: abaixo, adequado ou acima. A flexibilidade foi avaliada pelo Flexiteste e o flexíndice (FLX) foi calculado - somatório dos resultados da mobilidade passiva de cada um dos 20 movimentos articulares medidos (escala de 0 a 4) -, que foi posteriormente ajustado por idade e sexo por percentis (P-FLX) (Araújo, 2008). Resultados: Homens e mulheres adultos fisicamente inativos nos últimos cinco anos tiveram P-FLX medianos, respectivamente, de 25 e 35. Quando classificados pelo PEFIA, não foram observadas diferenças entre homens (P=0,23) e mulheres (P=0,10) no P-FLX. Conclusão: A flexibilidade de adultos pouco ativos ou sedentários nos últimos cinco anos, quando avaliada pelo FLX, é inferior à prevista para a idade e não é influenciada pelo PEFIA, indicando que o sedentarismo recente é prejudicial à flexibilidade global e que um histórico de mais exercício e/ou esporte na juventude não parece prevenir essa deficiência.

ABSTRACT Introduction: Flexibility is one of the components of performance and health-related physical fitness. This component tends to decrease with aging, but can be modified through specific physical training; on the other hand, these favorable adaptations tend to disappear with detraining. Objective: To evaluate the influence of physical exercise and/or participation in competitive sports during childhood and adolescence on flexibility in adults who have been mostly inactive, or sedentary in the last five years. Methods: Retrospective analysis of 1,388 subjects evaluated between 2012 and 2015. After applying the exclusion criteria, the final sample comprised a total of 533 adults (63.6% men; 20-94 years old), mostly inactive or sedentary over the last five years. The childhood and youth physical exercise profile (CYPEP) and profile of exercise in the last five years were obtained in a brief interview. These data were classified into three categories, according to the minimum recommended exercise for the specific age group, into: below, adequate and above. Flexibility was assessed by the Flexitest, and the flexindex (FLX) was calculated, as the sum total of the results of passive mobility of each of the 20 joint movements measured (scale of 0 to 4); the FLX was then adjusted by age and sex reference percentiles (P-FLX) (Araújo, 2008). Results: Men and women who had been physically inactive for the last five years showed median P-FLX, respectively, of 25 and 35. Using the three CYPEP categories, there were no differences between men (P=.23) and women (P=.10) in P-FLX. Conclusion: When evaluated by the FLX, adults who had been mostly inactive, or sedentary in the last five years showed lower levels of flexibility compared to their age-reference values, which were not influenced by CYPEP, indicating that a recent sedentary lifestyle compromised overall flexibility, and that a more activity pattern of exercise and sports during youth is unable to prevent this deficiency.

RESUMEN Introducción: La flexibilidad es uno de los componentes de la aptitud física relacionada con la salud y el rendimiento físico. Este componente tiende a disminuir con la edad y puede ser modificado por el entrenamiento específico; por otra parte, estos ajustes favorables tienden a desaparecer con desentrenamiento. Objetivo: Evaluar la influencia de la historia de ejercicio físico y/o la participación en competencias deportivas en la juventud sobre la flexibilidad de los adultos menos activos o sedentarios en los últimos cinco años. Métodos: Análisis retrospectivo de 1.388 sujetos evaluados entre 2012 y 2015. Después de los criterios de exclusión, la muestra final fue de 533 adultos (63,6% hombres; 20-94 años) poco activos o sedentarios en los últimos cinco años. En una breve entrevista se obtuvieron perfiles de ejercicio físico en la infancia/adolescencia (PEFIA) y en los últimos cinco años. Estos perfiles se agruparon en tres categorías en función de la cantidad mínima de ejercicio recomendado para cada edad como: abajo, adecuada o arriba. La flexibilidad se evaluó mediante Flexitest y el flexindex (FLX) fue calculado mediante la adición de los resultados de la movilidad pasiva de cada uno de los 20 movimientos articulares medidos (escala de 0 a 4), que se ajustó posteriormente para la edad y el sexo en percentiles (P-FLX) (Araújo, 2008). Resultados: Hombres y mujeres adultos físicamente inactivos en los últimos cinco años tuvieron P-FLX medio, respectivamente, 25 y 35. Cuando se clasificaron por PEFIA, no hubo diferencias entre hombres (P = 0,23) y mujeres (P = 0,10) en P-FLX. Conclusión: La flexibilidad de adultos poco activos o sedentarios en los últimos cinco años, según FLX es menor de lo esperado para la edad y no está influenciada por el PEFIA, lo que indica que el reciente estilo de vida sedentario es perjudicial para la flexibilidad general y una historia de más ejercicio y/o deporte en la juventud no parece prevenir esta deficiencia.