Investigation of language and motor skills in Serbian speaking children with specific language impairment and in typically developing children

Specific language impairment (SLI) is usually defined as a developmental language disorder which does not result from a hearing loss, autism, neurological and emotional difficulties, severe social deprivation, low non-verbal abilities. Children affected with SLI typically have difficulties with the acquisition of different aspects of language and by definition, their impairment is specific to language and no other skills are affected. However, there has been a growing body of literature to suggest that children with SLI also have non-linguistic deficits, including impaired motor abilities. The aim of the current study is to investigate language and motor abilities of a group of thirty children with SLI (aged between 4 and 7) in comparison to a group of 30 typically developing children matched for chronological age. The results showed that the group of children with SLI had significantly more difficulties on the language and motor assessments compared to the control group. The SLI group also showed delayed onset in the development of all motor skills under investigation in comparison to the typically developing group. More interestingly, the two groups differed with respect to which language abilities were correlated with motor abilities, however Imitation of Complex Movements was the unique skill which reliably predicted expressive vocabulary in both typically developing children and in children with SLI.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay. Each of the 30 patients analyzed showed a unique duplication varying in size from similar to 250 kb to similar to 2.6 Mb. Interestingly, in 77% of these non-recurrent duplications, the distal breakpoints grouped within a 215 kb genomic interval, located 47 kb telomeric to the MECP2 gene. The genomic architecture of this region contains both direct and inverted low-copy repeat (LCR) sequences; this same region undergoes polymorphic structural variation in the general population. Array CGH revealed complex rearrangements in eight patients; in six patients the duplication contained an embedded triplicated segment, and in the other two, stretches of non-duplicated sequences occurred within the duplicated region. Breakpoint junction sequencing was achieved in four duplications and identified an inversion in one patient, demonstrating further complexity. We propose that the presence of LCRs in the vicinity of the MECP2 gene may generate an unstable DNA structure that can induce DNA strand lesions, such as a collapsed fork, and facilitate a Fork Stalling and Template Switching event producing the complex rearrangements involving MECP2.

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.

När det inte blir som man har tänkt sig : - En fallstudie av undervisningssituationer med elever med behov av särskilt stöd

Fallstudien beskriver och diskuterar några lektioner med elever som har specifika inlärnings-svårigheter, utifrån skolverkets Allmänna råd, och belyser vilka pedagogiskt svårhanterliga problem och dilemman som kan uppstå när det inte blir som läraren har planerat. Teorin om den proximala utvecklingszonen åskådliggörs. Aktivitetens betydelse för inlärning belyses. Komplexiteten kring lärarskap och ledarskap illustreras. Skolverkets teori om kunskap genom progression, enligt givna årskurser med givet innehåll, stämmer inte alltid med erfarenheterna hos några av verklighetens elever. Samspelet mellan lärare och elever belyses i studien. Be-skrivningar av utvecklingsrelaterade funktionsnedsättningar och psykiskt sårbara barn visar ytterligare hur elevers individuella förutsättningar kan ge konsekvenser för inlärning.

Analysis of speech fluency in Williams syndrome

Williams syndrome (WS) is a neurodevelopmental genetic disorder, often referred as being characterized by dissociation between verbal and non-verbal abilities, although the number of studies disputing this proposal is emerging. Indeed, although they have been traditionally reported as displaying increased speech fluency, this topic has not been fully addressed in research. In previous studies carried out with a small group of individuals with WS, we reported speech breakdowns during conversational and autobiographical narratives suggestive of language difficulties. In the current study, we characterized the speech fluency profile using an ecologically based measure - a narrative task (story generation) was collected from a group of individuals with WS (n = 30) and typically developing group (n = 39) matched in mental age. Oral narratives were elicited using a picture stimulus - the cookie theft picture from Boston Diagnosis Aphasia Test. All narratives were analyzed according to typology and frequency of fluency breakdowns (non-stuttered and stuttered disfluencies). Oral narratives in WS group differed from typically developing group, mainly due to a significant increase in the frequency of disfluencies, particularly in terms of hesitations, repetitions and pauses. This is the first evidence of disfluencies in WS using an ecologically based task (oral narrative task), suggesting that these speech disfluencies may represent a significant marker of language problems in WS. (C) 2011 Elsevier Ltd. All rights reserved.

Psycholinguistic abilities of children with Williams syndrome

The objective of this study was to investigate the psycholinguistic abilities of children with Williams syndrome (WS) and typically developing children using the Illinois Test of Psycholinguistic Abilities (ITPA). Performance on the ITPA was analysed in a group with WS (N = 20, mean age = 8.5 years, SD = 1.62) and two typically developing groups, matched in mental (MA, N = 20, mean age = 4.92 years, SD = 1.14) and chronological age (CA, N = 19, mean age = 8.35 years, SD = 3.07). Overall, within-group analyses showed that individuals with WS displayed higher scalar scores on the visual reception and visual association subtests. When groups were compared, we observed inferior performance of the WS group on all ITPA subtests when compared with typically developing groups. Moreover, an interaction between reception and group was found, only the WS group demonstrated superior performance on the visual reception subtest when compared to the auditory reception subtest. Evidence from this study offers relevant contributions to the development of educational intervention programs for children with WS. (C) 2011 Elsevier Ltd. All rights reserved.

Changes in apoptosis and Bcl-2 expression in human hyperglycemic, term placental trophoblast

Apoptosis and its associated regulatory mechanisms are physiological events crucial to the maintenance of placental homeostasis; imbalance of these processes, however, such as occurs under various pathological conditions, may compromise placenta function and, consequently, pregnancy success. Increased apoptosis occurs in the placentas of pregnant women with several developmental disabilities, while increased Bcl-2 expression is generally associated with pregnancy-associated tumors. Herein, we tested the hypothesis that apoptosis-associated disturbs might be involved in the placental physiopathology subjected to different maternal hyperglycemic conditions.Thus, in the present study we investigated and compared the incidence of apoptosis using TUNEL reaction and Bcl-2 expression, in term-placentas of normoglycemic, diabetic and daily hyperglycemic patients. Tissue samples were collected from 37 placentas, being 15 from healthy mothers with normally delivered healthy babies, and 22 from mothers with glucose disturbances. From these latter 22 patients, 10 showed maternal daily hyperglycemia and 12 were clinically diabetics. Both Bcl-2 expression and apoptotic DNA fragmentation were established and quantified in the trophoblasts of healthy mothers. Compared to these reference values, a higher apoptosis index and lower Bcl-2 expression were disclosed in the placentas of the diabetic women, while in the daily hyperglycemic group, values were intermediate between the diabetic and normoglycemic patients. The TUNEL/Bcl-2 index ratio in the placentas varied from 0.02 to 0.09 for pregnant normoglycemic and diabetic women, respectively, revealing a predominance of apoptosis in the diabetic group. Our findings suggest that hyperglycemia may be a key factor evoking apoptosis in the placental trophoblast, and therefore, is relevant to diabetic placenta function. (c) 2006 Elsevier B.V.. All rights reserved.

Postural control and automaticity in dyslexic children: The relationship between visual information and body sway

Difficulty with literacy acquisition is only one of the symptoms of developmental dyslexia. Dyslexic children also show poor motor coordination and postural control. Those problems could be associated with automaticity, i.e., difficulty in performing a task without dispending a fair amount of conscious efforts. If this is the case, dyslexic children would show difficulties in using "unperceived" sensory cues to control body sway. Therefore, the aim of the study was to examine postural control performance and the coupling between visual information and body sway in dyslexic children. Ten dyslexic children and 10 non-dyslexic children stood upright inside a moving room that remained stationary or oscillated back and forward at frequencies of 0.2 or 0.5 Hz. Body sway magnitude and the relationship between the room's movement and body sway were examined. The results indicated that dyslexic children oscillated more than non-dyslexic children in both stationary and oscillating conditions. Visual manipulation induced body sway in all children but the coupling between visual information and body sway was weaker and more variable in dyslexic children. Based upon these results, we can suggest that dyslexic children use visual information to postural control with the same underlying processes as non-dyslexic children; however, dyslexic children show poorer performance and more variability while relating visual information and motor action even in a task that does not require an active cognitive and conscious motor involvement, which may be a further evidence of automaticity problem. (C) 2011 Elsevier Ltd. All rights reserved.

Perception-action and adaptation in postural control of children and adolescents with cerebral palsy

The aim of this study was to examine the coupling between visual information and body sway and the adaptation in this coupling of individuals with cerebral palsy (CP). Fifteen children with and 15 without CP. 6-15 years old, were required to stand upright inside of a moving room. All children first performed two trials with no movement of the room and eyes open or closed, then four trials in which the room oscillated at 0.2 or 0.5 Hz (peak velocity of 0.6 cm/s), one trial in which the room oscillated at 0.2 Hz (peak velocity of 3.5 cm/s), and finally two other trials in which the room oscillated again at 0.2 Hz (peak velocity of 0.6 cm/s). Participants with CP coupled body sway to visual information provided by the moving room, comparable to the coupling of participants without CP. However, participants with CP exhibited larger body sway in maintaining upright position and more variable sway when body sway was induced by visual manipulation. They showed adaptive sensory motor coupling, e.g. down-weighting visual influence when a larger stimulus was provided, but not with the same magnitude as typically developing participants. This indicates that participants with CP have less capability of adaptation. (C) 2011 Published by Elsevier Ltd.

Efeito da intervenção em esteira motorizada na aquisição da marcha independente e desenvolvimento motor em bebês de risco para atraso desenvolvimental

OBJETIVO: Examinar o efeito de intervenção em esteira motorizada na idade de aquisição da marcha independente em bebês de risco para atraso de desenvolvimento. MÉTODOS: Estudo experimental com 15 lactentes a partir do 5º mês de idade, sendo cinco deles com risco de atraso de desenvolvimento submetidos a sessões de fisioterapia e intervenção em esteira motorizada (Grupo Experimental); cinco com risco de atraso de desenvolvimento submetidos apenas a sessões de fisioterapia (Grupo Controle de Risco); e cinco bebês sem risco de atraso (Grupo Controle Típico). As sessões de fisioterapia ocorreram duas vezes por semana, seguidas de intervenção em esteira motorizada para o grupo experimental. Todos os bebês foram avaliados mensalmente pela Alberta Infant Motor Scale e os participantes do grupo experimental foram filmados durante a realização das passadas na esteira. Comparações entre os grupos ao longo do tempo foram realizadas por análise de variância (ANOVA) e de multivariância (MANOVA). RESULTADOS: Os bebês do Grupo Experimental adquiriram a marcha independente aos 12,8 meses e os do Grupo Controle de Risco aos 13,8 meses de idade corrigida, sendo que a aquisição do Grupo Controle de Risco ocorreu mais tarde em relação ao Grupo Controle Típico (1,1 meses; p<0,05). Os bebês do grupo experimental apresentaram padrão alternado das passadas na esteira, que aumentou ao longo da intervenção (p<0,05), e mostraram melhora do desenvolvimento motor global em relação aos bebês do Grupo Controle de Risco. CONCLUSÕES: A esteira pode ser considerada um agente facilitador para a aquisição do andar independente e do desenvolvimento motor global de bebês com risco de atraso de desenvolvimento.

Clinical and microbiological evaluation of the use of toothpaste containing 1% chlorhexidine and the influence of motivation on oral hygiene in patients with motor deficiency

Patients with motor deficiency have variable difficulties with mechanical plaque control, and as a consequence, the incidence of dental caries and periodontal disease can be higher in these patients. The objective of this study was to evaluate the clinical and microbiological efficacy of a toothpaste containing 1% chlorhexidine, which was used by patients with motor deficiency for 14 days. The reduction in plaque and gingival index and the impact on salivary microorganisms was evaluated. We conclude that the motivation of caregivers to carry out oral hygiene for patients with mental and motor deficiency is of great importance and is effective in reducing the formation of plaque as long as it is continuously reinforced. The use of chlorhexidine- containing toothpaste significantly reduced the plaque index and microorganism count between days 0 and 14. A reduction was also observed in the group that used a dentifrice without the chlorhexidine, but this difference was not significant. © 2010 Special Care Dentistry Association and Wiley Periodicals, Inc.

Age assessment based on dental calcification in individuals with Down syndrome

It is important to estimate both chronological age (CA) and maturational age of an individual, in order to perform orthopedic treatment or surgery, and in cases of lost documentation. Use of dental age (DA) for these purposes has been widely studied; however, the literature is scarce with regard to individuals with Down syndrome (DS), a prevalent condition worldwide. In this study the chronology of dental maturation was evaluated by analyzing the DA of individuals with DS based on the Chronological Mineralization Table proposed by Nolla (1960). Thus, second molars were evaluated in 57 panoramic radiographs of male and female individuals with DS, between 5 and 16 years-old. These data were compared with a control group of 191 nonsyndromic individuals of the same age group. Correlation between CA and DA was ascertained using Pearson's correlation coefficient (r), and the difference between these variables was measured using Student's t-test for paired samples and the method proposed by Bland and Altman. The difference between DA and CA was compared between the control and DS groups using Student's t-test for independent samples (α=0.05). DA was slightly lower than the CA; however, this difference was only significant for females. The difference between DA and CA was not significant between individuals with DS and control group (both genders, p=0.945; males, p=0.542; females, p=0.381). We concluded that dental maturation in individuals with DS occurs similarly to that of nonsyndromic individuals. © 2013 Elsevier Ltd.

Probabilidade de emergência de classes ordinais após o ensino de relações numéricas

O paradigma de equivalência de estímulos tem se mostrado útil na explicação de processos comportamentais complexos, como aqueles envolvidos em comportamentos conceituais numéricos. Vários estudos têm buscado a compreensão de como desempenhos sob controle da função de ordem são estabelecidos e mantidos. O objetivo do presente trabalho foi verificar se classes ordinais poderiam emergir após o ensino por emparelhamento arbitrário e de produção de seqüência. Participaram do estudo três alunos com atraso no desenvolvimento. Os estímulos visuais foram formas abstratas indicando numerosidade (A), numerais cardinais (B)e nomes escritos em letras maiúsculas de numerais (C). As sessões experimentais foram conduzidas em uma sala da APAE-BELÉM e um software controlou e registrou os dados comportamentais. As relações AB/AC foram ensinadas e testou-se a emergência de três classes de equivalência. Em seguida, houve um ensino por encadeamento de respostas com estímulos de um dos conjuntos (A1A2A3) e uma sonda de seqüenciação. Então, foi avaliada a emergência de novas seqüências (B1B2B3 e C1C2C3). Posteriormente, testes de substitutabilidade foram aplicados para verificar a formação de classes ordinais (por exemplo: A1B2C3). Testes de generalização também foram apresentados para verificar se um responder envolvendo numerosidade ocorreria com novos estímulos (por exemplo: E1E2E3). Os resultados demonstraram que os participantes responderam a novas seqüências prontamente ou com emergência gradual. A análise de topografias de controle de estímulos envolvidas nesse tipo de tarefa mostrou-se útil para a compreensão da ordinalidade. Todos os participantes responderam a seqüências com novos estímulos (generalização). O procedimento mostrou-se também eficiente na transferência de funções ordinais em pessoas com atraso no desenvolvimento.

Padrões neuropatológicos nas substâncias branca e cinzenta revelados por tomografia computadorizada ou ressonância magnética e déficits neurológicos correspondentes em crianças e com encefalopatia crônica não progressiva da infância

A Encefalopatia Crônica Não Progressiva da Infância (ECNP) é a sequela neurológica com maior comprometimento motor para a criança, e continua sendo na atualidade a hipóxicoisquemia perinatal a maior causa de lesão cerebral. É conhecida como Paralisia Cerebral, sendo definida por uma sequela de agressão encefálica, caracterizada, principalmente, por um transtorno persistente, mas não invariável do tônus, da postura e do movimento, que aparece na primeira infância. A caracterização da ECNP se faz considerando as condições anatômicas, etiológicas, semiológicas e não evolutiva. Neste estudo adotou-se a classificação baseada em aspectos anatômicos e clínicos, que enfatizam o sintoma motor, enquanto elemento principal do quadro clínico. A neuroimagem tem fundamental importância para o diagnóstico e prognóstico de lesões cerebrais, exercendo a importante função de descartar ou confirmar a presença de lesões em recém-nascidos e nas crianças com alterações no desenvolvimento. A Tomografia Cerebral (TAC) e a Ressonância Magnética do Crânio (RM) vêm desempenhando enorme papel para o estudo dos vários tecidos que constituem o sistema nervoso. Assim este estudo teve o objetivo geral de avaliar os padrões neuropatológicos nas substâncias branca e cinzenta, obtidos por TAC ou RM de Crânio, de pacientes com história clínica de ECNP hipóxico-isquêmica perinatal, correlacionando os dados obtidos por neuroimagem com os padrões motores obtidos por exame clínico-neurológico. Foram obedecidas as normas vigentes para estudo em seres humanos impostas pela Resolução CNS 196/96, submetida ao Comitê de Ética e Pesquisa da Plataforma Brasil sob o Nº 112168. A população foi constituída por pacientes com idade de zero a sete anos, de ambos os sexos, atendidos no Ambulatório de Paralisia Cerebral do Projeto Caminhar do Hospital Universitário Bettina Ferro de Souza (HUBFS), com diagnóstico de ECNP. A amostra do estudo foi composta por 15 crianças com diagnóstico de ECNP por Hipóxia neonatal. Para o diagnóstico radiológico em neuroimagem foram utilizados os dados dos laudos da TAC e da RM de Crânio. A avaliação clínico-neurológica utilizou para a avaliação do movimento o modelo da escala Gross Motor Function Classification System (GMFCS E&R), elaborada por Palisano, que gradua a criança em cinco níveis no qual o Nível I corresponde à normalidade e o Nível V a maior gravidade de limitação. Das 15 crianças avaliadas quanto ao movimento e a relação do Nível de Motricidade pela GMFCS E&R 05 crianças apresentavam nível V, 04 crianças nível IV, 05 crianças nível III e 01 criança nível II. Quanto ao imageamento cerebral 46% realizaram TAC e 54% RM do Crânio. A RM de Crânio apresentou-se neste estudo como a imagem de eleição, pois das 8 crianças que realizaram o exame, 6 apresentavam alterações. Ficou evidente que o exame por imagem de eleição para a criança que apresenta Encefalopatia Crônica não Progressiva é a RM de Crânio, podendo se adotar como protocolo para a conclusão diagnóstica, evitando expor a criança a uma carga elevada de RX como ocorre na TAC, e ainda, evitando gastos desnecessários para a saúde pública.