Psychopathology in Williams Syndrome: the effect of individual differences across the life span

The present research aimed to comprehensively explore psychopathology in Williams syndrome (WS) across the lifespan and evaluate the relationship between psychopathology and age category (child or adult), gender and cognitive ability. The parents of 50 participants with WS, aged 6-50 years, were interviewed using the Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS-PL). The prevalence of a wide range of Axis I DSM-IV disorders was assessed. In addition to high rates of anxiety and Attention Deficit Hyperactivity Disorder (ADHD) (38% and 20% respectively), 14% of our sample met criteria for a depressive disorder and 42% of participants were not experiencing any significant psychopathological difficulties. There was some evidence for different patterns of psychopathology between children and adults with WS and between males and females. These relationships were largely in keeping with those found in the typically developing population, thus supporting the validity of applying theory and treatment approaches for psychopathology in the typically developing population to WS.

Caught in the eye of the storm: a qualitative study of views and experiences of planned drug holidays from methylphenidate in child and adolescent ADHD treatment

Background: Attention deficit hyperactivity disorder (ADHD) can be treated with stimulant medication such as methylphenidate. Although effective, methylphenidate can cause serious side-effects, including suppressed appetite, growth retardation and sleep problems. A drug holiday is a deliberate interruption of pharmacotherapy for a defined period of time and for a specific clinical purpose, for example for appeasing side-effects. Whilst some international guidelines recommend introducing drug holidays in ADHD treatment, this is not practised routinely. Our aim was to examine the views and experiences of planned drug holidays from methylphenidate with adults who have responsibility for treatment decisions in children and adolescents with ADHD. Method: In-depth interviews were carried out. Child and Adolescent Mental Health Services (CAMHS) practitioners (n=8), General Practitioners (n=8), teachers (n=5), and mothers of children with ADHD (n=4) were interviewed in a UK setting. Interview transcripts were analysed using grounded theory. Results: Methylphenidate eases the experience of the child amid problems at home and at school and once started is mostly continued long-term. Some families do practise short-term drug holidays at weekends and longer-term ones during school holidays. The decision to introduce drug holidays is influenced by the child’s academic progress, the parents’ ability to cope with the child, as well as medication beliefs. Trialling a drug holiday is thought to allow older children to self-assess their ability to manage without medication when they show signs of wanting to discontinue treatment prematurely. Conclusions: Planned drug holidays could address premature treatment cessation by enabling adolescents to assess repercussions under medical supervision.

The effects of acute fluoxetine administration on temporal discounting in youth with ADHD

Background Serotonin is under-researched in attention deficit hyperactivity disorder (ADHD), despite accumulating evidence for its involvement in impulsiveness and the disorder. Serotonin further modulates temporal discounting (TD), which is typically abnormal in ADHD relative to healthy subjects, underpinned by reduced fronto-striato-limbic activation. This study tested whether a single acute dose of the selective serotonin reuptake inhibitor (SSRI) fluoxetine up-regulates and normalizes reduced fronto-striato-limbic neurofunctional activation in ADHD during TD. Method Twelve boys with ADHD were scanned twice in a placebo-controlled randomized design under either fluoxetine (between 8 and 15 mg, titrated to weight) or placebo while performing an individually adjusted functional magnetic resonance imaging TD task. Twenty healthy controls were scanned once. Brain activation was compared in patients under either drug condition and compared to controls to test for normalization effects. Results Repeated-measures whole-brain analysis in patients revealed significant up-regulation with fluoxetine in a large cluster comprising right inferior frontal cortex, insula, premotor cortex and basal ganglia, which further correlated trend-wise with TD performance, which was impaired relative to controls under placebo, but normalized under fluoxetine. Fluoxetine further down-regulated default mode areas of posterior cingulate and precuneus. Comparisons between controls and patients under either drug condition revealed normalization with fluoxetine in right premotor-insular-parietal activation, which was reduced in patients under placebo. Conclusions The findings show that a serotonin agonist up-regulates activation in typical ADHD dysfunctional areas in right inferior frontal cortex, insula and striatum as well as down-regulating default mode network regions in the context of impulsivity and TD.

Gene Expression Profiling of Cultured Cells From Brainstem of Newborn Spontaneously Hypertensive and Wistar Kyoto Rats

The spontaneously hypertensive rat (SHR) is a good model to study several diseases such as the attention-deficit hyperactivity disorder, cardiopulmonary impairment, nephropathy, as well as hypertension, which is a multifactor disease that possibly involves alterations in gene expression in hypertensive relative to normotensive subjects. In this study, we used high-density oligoarrays to compare gene expression profiles in cultured neurons and glia from brainstem of newborn normotensive Wistar Kyoto (WKY) and SHR rats. We found 376 genes differentially expressed between SHR and WKY brainstem cells that preferentially map to 17 metabolic/signaling pathways. Some of the pathways and regulated genes identified herein are obviously related to cardiovascular regulation; in addition there are several genes differentially expressed in SHR not yet associated to hypertension, which may be attributed to other differences between SHR and WKY strains. This constitute a rich resource for the identification and characterization of novel genes associated to phenotypic differences observed in SHR relative to WKY, including hypertension. In conclusion, this study describes for the first time the gene profiling pattern of brainstem cells from SHR and WKY rats, which opens up new possibilities and strategies of investigation and possible therapeutics to hypertension, as well as for the understanding of the brain contribution to phenotypic differences between SHR and WKY rats.

HTR1B and HTR2C in autism spectrum disorders in Brazilian families

Autism spectrum disorders (ASD) is a group of behaviorally defined neuro developmental disabilities characterized by multiple genetic etiologies and a complex presentation. Several studies suggest the involvement of the serotonin system in the development of ASD, but only few have investigated serotonin receptors. We have performed a case-control and a family-based study with 9 polymorphisms mapped to two serotonin receptor genes (HTR1B and HTR2C) in 252 Brazilian male ASD patients of European ancestry. These analyses showed evidence of undertransmission of the HTR1B haplotypes containing alleles -161G and -261A at HTR1B gene to ASD (P=0.003), but no involvement of HTR2C to the predisposition to this disease. Considering the relatively low level of statistical significance and the power of our sample, further studies are required to confirm the association of these serotonin-related genes and ASD. (C) 2008 Elsevier B.V. All rights reserved.

Genrestratifiering och massmedias neutralisering av kritiken mot ADHD : Ett kunskapssociologiskt perspektiv

Genre stratification and the mass media’s neutralization of the critique of ADHD: A sociology of knowledge perspective This study examines how the Swedish mass media has dealt with the opposition against the neuropsychiatric diagnosis ADHD (Attention Deficit Hyperactivity Disorder). Drawing on empirical data from eight of the largest newspapers in Sweden (n=778 articles) the study focuses on the scientific controversy of DAMP, 2000–2006. DAMP (Dysfunction in Attention, Motor Control and Perception) is a diagnostic term denoting difficulties similar to ADHD, and which was used in Sweden at the time of the controversy. The study uncovers the ideological role played by the mass media during the DAMP-controversy, and demonstrates the significance of genre. While the spokespersons for DAMP/ADHD were given exclusive and systematic access to the news genre, the forum of fact-production in the mass media, the critics of DAMP/ADHD were confined to arguing and expressing their opinions in the debate genre. Based on the various effects of genre differences a comprehensive analytical tool for the sociology of knowledge, called genre stratification, is developed in the study 

O teatro do oprimido e sua contribuição na formação da criança com transtorno do déficit de atenção com hiperatividade

This research investigates and reports the contributions of the Theatre of the Oppressed and its techniques as a therapeutic resource in the education of children with Attention Deficit Disorder with Hyperactivity. In the first chapter organize one studying theoretical seeking to conceptualize and understand the Learning, Attention Deficit Hyperactivity Disorder, seeking to better understand the behavior and the behavior of children with ADHD. Researching on the symptoms, causes and effects of this syndrome. Trace a relationship between familyschool- specialists in an attempt to prove the importance of family support in the teachinglearning process and treatment of these children. In the second chapter start conceptualizing theater, the relationship between work-Theatre-Education Therapy, explain the difference between the theatrical stage and the therapeutic stage. Account the importance of theater games in the classroom and its contribution to social and educational training of the child. Justify the choice of the Theatre of the Oppressed recognizing him as the primary method for this research, because it is a set of exercises, games and techniques that help the child regain equilibrium relations, developing autonomy, encourages creativity and spontaneity, freeing them from their oppression. Besides being an efficient transformation behavior, improving behavior, allowing the inclusion of children in society. It is verified the effectiveness of the method and techniques in their work with children Municipal School Professor. Antonio Severiano in Natal / RN, allowing these children develop body awareness, working senses, thought, memory, inhibition, teaching to expose your point of view, understand and deal with their emotions, respecting its limits and develop their motor and cognitive skills

Transtorno de déficit de atenção/hiperatividade e psicologia histórico-cultural

O Transtorno de Déficit de Atenção e Hiperatividade tem sido evocado como justificativa corrente para o fracasso escolar de um número expressivo de crianças, atribuindo-se a elas a responsabilidade por não aprender e isentando de análise a escola e a sociedade nas quais estão inseridas. A situação se torna mais alarmante uma vez que a literatura a respeito aponta dificuldades no diagnóstico e na intervenção sobre esse tipo de transtorno, devidas à falta de clareza sobre o que é esse quadro clínico e em razão da não existência de estudos consistentes acerca das consequências futuras do uso de estimulantes nas crianças. Para discutir essas questões, a primeira parte do artigo apresenta a concepção hegemônica desse tipo de transtorno e sua compreensão do psiquismo infantil. A segunda parte aborda a maneira como a psicologia histórico-cultural analisa o desenvolvimento da atenção e o controle voluntário do comportamento humano, redimensionando a compreensão sobre o transtorno. Finalmente, são feitas algumas reflexões acerca do processo ensino-aprendizagem em crianças com desenvolvimento parcial das funções psicológicas superiores e do papel da psicologia e da pedagogia na compreensão do fenômeno para que sirvam de subsídio a medidas práticas em relação ao problema.

Coordenação motora fina de escolares com dislexia e transtorno do déficit de atenção e hiperatividade

OBJETIVOS: descrever e comparar o desempenho da coordenação motora fina em escolares com dislexia e com transtorno do déficit de atenção e hiperatividade utilizando parâmetros de desempenho motor e idade cronológica da Escala de Desenvolvimento Motor. MÉTODO: participaram 22 escolaresdo ensino fundamental, de ambos os gêneros, na faixa etária de 6 a 11 anos de idade distribuídos em: GI: 11 escolares com transtorno do déficit de atenção e hiperatividade e GII: 11 com dislexia. Como procedimento, provas de motricidade fina da Escala de Desenvolvimento Motor foram aplicadas. RESULTADOS: os resultados revelaram diferença estatisticamente significante entre a idade motora fina e a idade cronológica de GI e GII. Conforme a classificação da Escala do Desenvolvimento Motor, 90% dos escolares de GI e GII apresentaram desenvolvimento motor fino muito inferior ao esperado para a idade e 10% dos escolares com dislexia apresentam desenvolvimento normal baixo ao esperado para a idade e 10% dos escolares com transtorno do déficit de atenção e hiperatividade apresentaram desenvolvimento inferior ao esperado para a idade. CONCLUSÃO: concluímos que tanto os escolares com dislexia como os com TDAH deste estudo apresentam atrasos na coordenação motora fina, demonstrando que os participantes desta pesquisa apresentam dificuldades em atividades que exijam destreza, quadro característico do transtorno do desenvolvimento da coordenação. Estudos complementares estão sendo conduzidos pelos autores deste estudo para poder verificar e comprovar se o perfil motor fino dos escolares encontrados neste estudo se assemelham ou se diferem de acordo com o quadro apresentado pelos mesmos.

Desempenho de escolares com transtorno de déficit de atenção e hiperatividade em tarefas metalinguisticas e de leitura

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Desempenho em consciência fonológica, memória operacional, leitura e escrita na dislexia familial

Background: familial dyslexia. Aim: to characterize and compare the phonological awareness, working memory, reading and writing abilities of individuals whose family members are also affected. Method: in this study 10 familial nuclei of natural family relationship of individuals with dyslexia were analyzed. Families of natural individuals living in the west region of the state of São Paulo were selected. Inclusion criteria were: to be a native speaker of the Brazilian Portuguese language, to have 8 years of age or more, to present positive familial history for learning disabilities, That is, to present at least one relative with difficulties in learning. Exclusion criteria were: to present any neurological disorder genetically caused or not, in any of the family members, such as dystonia, extra pyramidal diseases, mental disorder, epilepsy, attention deficit and hyperactivity disorder (ADHA); psychiatric symptoms or conditions; or any other pertinent conditions that could cause errors in the diagnosis. As for the diagnosis of developmental dyslexia, information about the familial history of the adolescents and children was gathered with the parents, so that a detailed pedigree could be delineated. Neurological, psychological, speech-language, and school performance evaluations were made with the individuals and their families. Results: the results of this study suggest that the dyslexic individuals and their respective relatives, also with dyslexia, presented lower performances than the control group in terms of rapid automatic naming, reading, writing and phonological awareness. Conclusion: deficits in phonological awareness, working memory, reading and writing seem to have genetic susceptibility that possibly determine, when in interaction with the environment, the manifestation of dyslexia.

Hallazgos de neuroimagen y desempeño ortográfi co de estudiantes con trastorno por défi cit de atención con hiperactividad según la semiología de los errores

Aim: To characterize, compare and classify the performance of students with attention deficit-hyperactivity disorder (ADHD) according to the semiology of errors and to describe the neuroimaging findings in these students. Methods: We evaluated 36 primary school boys and girls aged between 8 and 11 years old in the 3 rd to 5 th grades. The children were divided in two groups. Group I consisted of 18 students with an interdisciplinary diagnosis of ADHD (60% boys and 40% girls). Group II consisted of 18 children with good academic performance, paired by gender, age and grade with children in group I. The collective and individual versions of the Pro-ortografia spelling tests were applied. Results: Statistically significant differences were found in almost all the tests of the individual and collective versions of the spelling evaluation, with children with ADHD showing a higher average number of errors. Neuroimaging examinations indicated that 81% of the students in GI showed hypoperfusion in the frontal lobe, 7% had hypoperfusion of the thalamus and basal ganglia, 6% showed hypoperfusion in the basal ganglia only and 6% showed hypoperfusion in the left and right frontal lobes. Conclusions: Children with ADHD demonstrated poorer knowledge of the use of spelling rules in Brazilian Portuguese, which could be related to changes in blood flow in the frontal lobe, parietal lobe, thalamus and basal ganglia. These changes could cause a lack of attention, affecting phonological working memory and the planning of writing. © 2011 AELFA.

Processamento auditivo comportamental e eletrofisiológico em crianças com Transtorno de Déficit de Atenção com Hiperatividade (TDAH)

Pós-graduação em Fonoaudiologia - FFC

A avaliação do pensamento lógico em pacientes com TDAH - Transtorno de Déficit de Atenção com ou sem hiperatividade

Pós-graduação em Pediatria - FMB

A criança hiperativa, a família, o discurso científico e a psicanálise

Pós-graduação em Psicologia - FCLAS