Características clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis

TEMA: o objetivo deste estudo foi descrever os aspectos clínico, comportamental, cognitivo e comunicativo de indivíduos com o diagnóstico genético da Síndrome Smith-Magenis. PROCEDIMENTOS: participaram dois indivíduos do sexo masculino, de nove e 19 anos. Realizou-se a avaliação genética clínica e laboratorial (teste FISH, utilizando sonda para região 17p11.2). A avaliação psicológica constou da observação comportamental e aplicação da Escala Wechsler de Inteligência. A avaliação Fonoaudiológica foi realizada por meio de procedimentos formais e informais e avaliação auditiva periférica. RESULTADOS: a análise genética clínica evidenciou as características fenotípicas da síndrome Smith-Magenis, confirmada pela avaliação laboratorial. A avaliação psicológica evidenciou o fenótipo comportamental peculiar da síndrome Smith-Magenis e comprovou a deficiência intelectual de grau moderado nos dois indivíduos. A avaliação fonoaudiológica mostrou alterações no desempenho linguístico, com alterações nos níveis fonológico, semântico, sintático e pragmático e nas habilidades psicolinguísticas, interferindo nas habilidades comunicativas e de aprendizagem. A avaliação auditiva indicou audição periférica dentro de parâmetros de normalidade. CONCLUSÃO: a avaliação multidisciplinar favoreceu a descrição dos aspectos clínicos, comportamentais, cognitivos que pertencem ao fenótipo comportamental da síndrome Smith-Magenis e permitiu verificar que estes apresentam graves alterações da linguagem oral, das habilidades psicolinguísticas e do processamento das informações visuais e auditivas com reflexos marcantes no desenvolvimento das habilidades comunicativas e processos de aprendizagem.

Percurso e resultados da terapia fonoaudiológica na síndrome de Prader-Willi (SPW): relato de caso

O objetivo deste estudo foi descrever o percurso e os resultados da terapia fonoaudiológica na síndrome de Prader-Willi, por meio do estudo longitudinal do caso de uma criança de 8 anos de idade, do gênero masculino, ao longo de quatro anos de terapia fonoaudiológica em uma clínica-escola. Foram realizadas filmagens de sessões de terapia e análise documental de informações dos prontuários referentes à anamnese, avaliação e relatórios terapêuticos fonoaudiológicos e avaliações multidisciplinares. A criança apresentou características típicas da síndrome de Prader-Willi como obesidade, hiperfagia, ansiedade, problemas de comportamento e auto-agressões. em avaliação fonoaudiológica foram observados hipotonia orofacial, sialorréia, voz hipernasal, alterações cognitivas, dificuldades de compreensão oral, comunicação por meio de gestos e produção de palavras isoladas ininteligíveis. Inicialmente, a terapia fonoaudiológica teve o objetivo principal de promover o desenvolvimento da linguagem com ênfase na interação social por meio de atividades lúdicas. Com a evolução do caso o direcionamento principal passou a ser o desenvolvimento de habilidades conversacionais e narrativas. Foram observadas evoluções quanto à manutenção da atenção, brincadeira simbólica, contato social e comportamento. Além disso, houve aumento do vocabulário, evolução quanto à compreensão oral e desenvolvimento de habilidades narrativas. Dessa maneira, a intervenção fonoaudiológica em caso de síndrome de Prader-Willi foi eficaz em diferentes níveis, no que se refere às habilidades fonológicas, sintáticas, lexicais e pragmáticas da linguagem

Logistic regression to estimate the welfare of broiler breeders in relation to environmental and behavioral variables

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

ETHOPHARMACOLOGICAL ANALYSIS OF RAT BEHAVIOR ON THE ELEVATED PLUS-MAZE

Behavioral categories were measured in rats left on an elevated plus-maze for 5 min, in addition to the traditional measures. Four independent factors emerged from a factor analysis. The variables that loaded highly and positively on Factor 1, seemingly related with anxiety, were: number of entries onto open arms, time spent on open arms, percentage of open/total arm entries, percentage of time on open arms, scanning over the edge of an open arm, and open arm end-exploring. The time spent on enclosed arms loaded highly, but negatively on the same factor. Risk-assessment from an enclosed arm also loaded negatively on Factor 1. Number of enclosed arm entries, total number of arm entries and rearing loaded highly on Factor 2, probably related to motor activity. However, the total number of entries also loaded on Factor 1, being thus a mixed index. Similarly, the number of open arm entries loaded on both Factors 1 and 2. As expected, the variables having high loads on Factor 1 were changed to one direction by administration of two anxiolytics (nitrazepam and midazolam) and to the opposite direction by two anxiogenic drugs (pentylenetetrazol and FG 7142). Such pattern of drug effects was not observed with the remaining variables.

Longitudinal study of the spectral composition of behavioral rhythms in the rat

Four. male Wistar rats were housed in pairs of siblings, on LD 12:12h and 22 degrees C + 2 degrees C. Food and water were provided ad libitum. Behavior was videotaped from the 1st to the 3rd month of life. In each age-bracket the spectral composition of rhythmic expressions of the following behavioral categories was analyzed: rest, eat, drink, cage exploration, self-grooming, and social interaction. Rats maintained a stable rank order of time engaged in different behaviors through development, despite modification of time spent in grooming, drinking and social interaction as they got older. Spectral composition of behaviors followed a general ontogenetic pattern: ultradian frequencies of 12-h and 8-h were the strongest in the 1st month and circadian periodicity was predominant in the 3rd month. The increase of circadian power compared with ultradian power components agrees with literature findings. To our knowledge, self-grooming and social interaction have not been investigated before in this context. The similarities between siblings suggest the mutual influence of partners and/ or the existence of genetic factors. Ongoing studies are examining the importance of the social surroundings in which animals develop to the acquisition of adult rhythmic pattern.

Effect of gamma irradiation on the behavioral properties of crotoxin

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Effects of Transcranial Magnetic Stimulation on the Cognitive Event-Related Potential P300: A Literature Review

The objective of this study was to perform a systematic review regarding the effects of transcranial magnetic stimulation (TMS) on the cognitive event-related potential P300. A search was performed of the PubMed database, using the keywords "transcranial magnetic stimulation" and "P300." Eight articles were selected and, after analysis of references, one additional article was added to the list. We found the comparison among studies to be difficult, as the information regarding the effects of TMS on P300 is both scarce and heterogeneous with respect to the parameters used in TMS stimulation and the elicitation of P300. However, 7 of 9 studies found positive results. New studies need to be carried out in order to understand the contribution of these variables and others to the alteration in the latency and amplitude of the P300 wave.

Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.

Behavioral evaluation during dental care in children ages 0 to 3 years

Purpose: Many studies concluded that the behavior of babies complicated dental care because of child immaturity or the difficulty of establishing acceptable communication and comprehension. Methods: The records of 696 babies were randomly selected from the baby clinic of Araçatuba in Brazil. Patient age ranged from 0 to 36 months. They were divided into 6 groups according to age: Group I-0 to 6 months; Group II-7 to 12 months; Group III-13 to 18 months; Group IV-19 to 24 months; Group V-25 to 30 months; Group VI-31 to 36 months. The behavior of the child was evaluated upon entrance in the dental office and during the first 4 clinical appointments with a clinical exam and oral physiotherapy. The baby was classified as collaborator (C) or noncollaborator (NC). Statistical analysis was performed using Pearson's chi-square method (P< .05). Results: The percentage of NC for Groups II, III, IV, and V (66%), was significantly higher than for groups I (30%) and VI (50%). Conclusions: Babies from 0 to 6 months showed a collaborative behavior; babies from 7 to 30 months showed noncollaborative behavior; and babies from 31 to 36 months showed no statistically significant difference between the percentage of C and NC.

Information and mechanical models of intelligence: What can we learn from cognitive science?

The impact of new advanced technology on issues that concern meaningful information and its relation to studies of intelligence constitutes the main topic of the present paper. The advantages, disadvantages and implications of the synthetic methodology developed by cognitive scientists, according to which mechanical models of the mind, such as computer simulations or self-organizing robots, may provide good explanatory tools to investigate cognition, are discussed. A difficulty with this methodology is pointed out, namely the use of meaningless information to explain intelligent behavior that incorporates meaningful information. In this context, it is inquired what are the contributions of cognitive science to contemporary studies of intelligent behavior and how technology may play a role in the analysis of the relationships established by organisms in their natural and social environments. © John Benjamins Publishing Company.

Apert syndrome: Factors involved in the cognitive development

Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and timing for surgery with neuropsychological evaluation. We also tried to determine other relevant aspects involved in cognitive development of these patients such as social classification of families and parents' education. Eighteen patients with Apert syndrome were studied, whose ages were between 14 and 322 months. Brain abnormalities were observed in 55.6% of them. The intelligence quotient or developmental quotient values observed were between 45 and 108. Mental development was related to the quality of family environment and parents' education. Mental development was not correlated to brain malformation or age at time of operation. In conclusion, quality of family environment was the most significant factor directly involved in mental development of patients with Apert syndrome.

Effects of motor intervention in elderly patients with dementia: An analysis of randomized controlled trials

The objective of this study was to analyze randomized controlled trials published in the last decades involving motor intervention as a treatment for dementia, based on Physiotherapy Evidence Database (PEDro) criteria. A database search was performed using the following keywords: randomized controlled trial, dementia, physiotherapy, physical therapy, occupational therapy, physical education, motor approach, exercise, and physical activity. Ten trials were found: 4 related to physiotherapy, 3 to occupational therapy, 1 to physical education, and 2 to interdisciplinary motor intervention. The efficacy of motor intervention was confirmed in the following variables: psychosocial function, physical health and function, affective status, and caregiver's distress (P < .05). Results related to mobility were not significant (P > .05). Behavior, cognitive performance, activities of daily living, and risk of falls were not similar among the articles. From a total score of 10 points, with excellence characterized as the highest punctuation, the articles were classified between 3 and 7 by PEDro. Motor intervention was shown to be an alternative for minimizing physical and mental decline. PEDro has been confirmed as a very reliable tool to analyze studies and as an evaluation criteria, both qualitative and quantitative, allowing the establishment of motor intervention strategies for the treatment of patients with dementia. © 2007 Lippincott Williams & Wilkins, Inc.

Early impairment of cognitive functions in Parkinson's disease

Background: Impairment in non-motor functions such as disturbances of some executive functions are also common events in Parkinson's disease patients. Objective: To verify the performance of Parkinson's disease patients in activities requiring visuoconstructive and visuospatial skills. Method: Thirty elderly patients with mild or moderate stages of Parkinson's disease were studied. The assessment of the clinical condition was based on the unified Parkinson's disease rating scale (56.28; SD=33.48), Hoehn and Yahr (2.2; SD=0.83), Schwab and England (78.93%), clock drawing test (7.36; SD=2.51), and mini-mental state examination (26.48; SD=10.11). Pearson's correlation and stepwise multiple regression were used for statistical analyses. Results: The patients presented deterioration in visuospatial and visuoconstructive skills. Conclusion: The clock drawing test proved to be a useful predictive tool for identifying early cognitive impairment in these individuals.

Evaluation of children's behavior aged 0-3 years during dental care: A longitudinal analysis

Child temperament has been studied in various researches and may be useful to predict how a child responds to dental treatment, especially very young children. The purpose of the present longitudinal study was to evaluate the behavioral manifestation of children aged 0 to 3 years, considering different types of dental situation. A total of 169 children were selected and the following data were collected: the age of the child, gender, age of the mother, number of dental visits and their respective dates, stimuli offered to the child, and behavioral response to these stimuli. The children and their respective behaviors were divided into five groups according to the dental situation offered: control, missed visits, fluoride varnish, restoration, and dental trauma. The data were submitted to descriptive and inferential analysis using the chi-square test, with the level of significance set at 5%. Analysis of the different situation offered to infants during routine dental care revealed a predominance of collaborating and partially collaborating behavior, and age at the time of dental care influenced the behavior of the infants, irrespective of the stimulus group. The different types of dental situation provoked changes in the behavioral response of the children of certain age groups, especially in the dental trauma group.

Behavior analysis of electromyographic activity of the masseter muscle in sleep bruxers

The effects of occlusal splint on the electric activity of masseter were studied in 15 women who presented sleep bruxism using surface electromyography. Sleep bruxism was defined by its clinical characteristics. The signal acquisition was done during mandible occlusion without clenching and maximum voluntary contraction in two situations. The first was after a workday without using the occlusal splint; and the second, after a sleeping night using occlusal splints. Evaluating masseter muscles during mandible occlusion without clenching, it could be observed that lower values were noticed after splint wearing in both sides. The same results were verified in maximum voluntary contraction (MVC). These results confirmed that the use of occlusal splints reduced the electromyographic activity of the right and left masseters, showing its myorelaxing effect. © 2009 Elsevier Ltd. All rights reserved.