Behavioral and neuroimaging research of reading: A case of Japanese

Behavioral studies showed that AS, an English-Japanese bilingual was a skilled reader in Japanese but was a phonological dyslexic in English. This behavioral dissociation was accounted for by the Hypothesis of Transparency and Granularity postulated by Wydell & Butterworth. However, a neuroimaging study using MEG (magnetoencephalography) revealed that AS has the same functional deficit in the left superior temporal gyrus (STG). This paper therefore offers an answer to this intriguing discrepancy between the behavioral dissociation and the neural unity in AS by reviewing existing behavioral and neuroimaging studies in alphabetic languages such as English, Finnish, French, and Italian, and nonalphabetic languages such as Japanese and Chinese.

Intervenção psicomotora nas perturbações do espectro do autismo na Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo, APPDA, de Lisboa

O presente relatório descreve as atividades de estágio desenvolvidas no âmbito do Mestrado em Reabilitação Psicomotora, Ramo de Aprofundamento de Competências Profissionais, da Faculdade de Motricidade Humana, realizado na Associação Portuguesa para as Perturbações do Desenvolvimento e Autismo (APPDA) - Lisboa, justamente no Centro de Atividades Ocupacionais (CAO) com 47 jovens e adultos e no Centro de Recursos para a Inclusão (CRI) com 21 crianças e jovens, alunos de seis escolas do ensino regular, integrados em Unidades de Ensino Estruturado para o Autismo (UEEA). O estágio profissionalizante desenrolou-se mediante sessões de intervenção psicomotora em ginásio e meio aquático, em contexto de grupo ou individual acompanhando crianças, jovens e adultos com Perturbações do Desenvolvimento e da Aprendizagem, com maior incidência com Perturbações do Espectro do Autismo. O relatório apresenta o enquadramento teórico, legal e institucional e realização da prática profissional, sendo descritos cinco estudos de caso, enquanto modelos exemplificativos do trabalho desenvolvido, adicionando-se uma reflexão acerca da experiência de estágio. Para cada estudo-caso encontra-se descrito o processo de avaliação, estabelecimento de objetivos, programa pedagógico-terapêutico, resultados e respetiva análise. Da referida intervenção foi possível constatar melhorias, tanto a nível psicomotor como emocional e comportamental, sugerindo os benefícios do contributo da intervenção psicomotora nas Perturbações do Desenvolvimento e Aprendizagem.

A dimensão preventiva da intervenção precoce : intervenção psicomotora na creche

O presente relatório tem como principal objetivo apresentar a caracterização do estágio realizado na Equipa Móvel de Desenvolvimento Infantil e Intervenção Precoce (EMDIIP) no âmbito da promoção do desenvolvimento infantil de crianças em contexto de creche, ao longo do segundo ano do mestrado em Reabilitação Psicomotora. Toda a intervenção psicomotora foi planeada consoante os resultados das avaliações formais, das observações informais de cada criança e das preocupações e dificuldades enunciadas pela Educadora de Infância da creche tendo sempre em conta as práticas recomendadas da Intervenção Precoce. Para além das sessões de psicomotricidade realizadas em grupo e individualmente, foi desenvolvido um trabalho de formação parental, com o intuito de promover as interações familiares e divulgar informação sobre o desenvolvimento normal das crianças, e um ajustamento do contexto da sala Arco-Íris. A psicomotricidade revelou ser uma ferramenta essencial na promoção do desenvolvimento infantil não só na sua vertente (re)educativa e terapêutica mas também na sua vertente preventiva.

Assessment of Risk Factors and Prognosis in Asphyxiated Infants

Background: Asphyxia is considered an important cause of morbidity and mortality in neonates. This condition can affect many vital organs including the central nervous system and may eventually lead to death or developmental disorders. Objectives: Considering the high prevalence of asphyxia and its adverse consequences, the present study was conducted to evaluate the risk factors for birth asphyxia and assess their correlation with prognosis in asphyxiated infants. Patients and Methods: This two-year follow-up cohort study was conducted on 260 infants (110 asphyxiated infants and 150 healthy neonates) at Mashhad Ghaem Hospital during 2007 - 2014. Data collection tools consisted of a researcher-designed questionnaire including maternal and neonatal information and clinical/laboratory test results. The subjects were followed-up, using Denver II test for 6, 12, 18, and 24 months (after discharge). For data analysis, t-test was performed, using SPSS version 16.5. P value ≤ 0.05 was considered statistically significant. Results: Of 260 neonates, 199 (76.5%) and 61 (23.5%) cases presented with normal neonatal outcomes and with abnormal neonatal outcomes (developmental delay), respectively. Variables such as the severity of asphyxia (P = 0.000), five-minute Apgar score (P = 0.015), need for ventilation (P = 0.000), and severity of acidosis at birth (P = 0.001) were the major prognostic factors in infants with asphyxia. Additionally, prognosis was significantly poorer in boys and infants with dystocia history (P = 0.000). Conclusions: Prevalence of risk factors for developmental delay including the severity of asphyxia need for mechanical ventilation, and severity of acidosis at birth, dystocia, and Apgar score were lower in surviving infants; therefore, controlling these risk factors may reduce asphyxia-associated complications.

Estado de las enfermedades raras que cursan con discapacidad intelectual en Colombia

Las enfermedades raras o huérfano son una problemática que ha tomado mucha importancia en el contexto mundial del presente siglo, estas se han definido como crónicas, de difícil tratamiento de sus síntomas y con baja prevalencia en la población; muchas de estas enfermedades cursan con varios tipos de discapacidad, siendo el objetivo del presente trabajo el enfocarse en aquellas enfermedades raras que cursan con discapacidad intelectual. Para poder profundizar en estas enfermedades se realizó una revisión teórica sobre las enfermedades raras, así como de la discapacidad psíquica y su importancia a nivel mundial y nacional. A partir de estas definiciones, se revisaron en profundidad 3 enfermedades raras que cursan con discapacidad intelectual en el contexto colombiano, como son: el síndrome de Rett, el síndrome de Prader-Willi y el síndrome de X frágil. En cada una de estas enfermedades además se explicaron los tipos de diagnóstico, intervención, prevención, grupos de apoyo y tipos de evaluación que más se usan en el contexto nacional

Tornar-se pai/mãe de uma criança com transtornos graves do desenvolvimento

The interest in research on parents of children with severe developmental disorders has known different focuses of interest over time, from a more psychopathological approach, interested in describing the negative aspects of the impact of having a child with disabilities, to the study of coping strategies used to deal with the situation, and the study of the strength and resilience mobilized by these parents. The big change, however, is that the concern about parents is not only because of the child, but also for what happens in their own development processes. This developmental perspective is addressed here to the construction of the fundamental attachment between mother/father and the baby, how this bond is broken, and how it can be reconstructed when the child has a severe disability diagnosis. Only the resumption of parents’ developmental process will enable them to perform their parenting in an emotionally appropriate and consistent manner, based on adequate responsiveness in everyday life situations. This view allows to open new interdisciplinary challenges about how to work on early intervention in child development and to a comprehensive understanding of the family centered intervention.

Decoding Agc1 deficiency: bioinformatics approaches to unveil the functional implications of Slc25a12 on the transcriptome and epigenome

In the brain, mutations in SLC25A12 gene encoding AGC1 cause an ultra-rare genetic disease reported as a developmental and epileptic encephalopathy associated with global cerebral hypomyelination. Symptoms of the disease include diffused hypomyelination, arrested psychomotor development, severe hypotonia, seizures and are common to other neurological and developmental disorders. Amongst the biological components believed to be most affected by AGC1 deficiency are oligodendrocytes, glial cells responsible for myelination. Recent studies (Poeta et al, 2022) have also shown how altered levels of transcription factors and epigenetic modifications greatly affect proliferation and differentiation in oligodendrocyte precursor cells (OPCs). In this study we explore the transcriptomic landscape of Agc1 in two different system models: OPCs silenced for Agc1 and iPSCs from human patients differentiated to neural progenitors. Analyses range from differential expression analysis, alternative splicing, master regulator analysis. ATAC-seq results on OPCs were integrated with results from RNA-Seq to assess the activity of a TF based on the accessibility data from its putative targets, which allows to integrate RNA-Seq data to infer their role as either activators or repressors. All the findings for this model were also integrated with early data from iPSCs RNA-seq results, looking for possible commonalities between the two different system models, among which we find a downregulation in genes encoding for SREBP, a transcription factor regulating fatty acids biosynthesis, a key process for myelination which could explain the hypomyelinated state of patients. We also find that in both systems cells tend to form more neurites, likely losing their ability to differentiate, considering their progenitor state. We also report several alterations in the chromatin state of cells lacking Agc1, which confirms the hypothesis for which Agc1 is not a disease restricted only to metabolic alterations in the cells, but there is a profound shift of the regulatory state of these cells.

Long-term effects of developmental exposure to di-n-butyl-phthalate (DBP) on rat prostate: Proliferative and inflammatory disorders and a possible role of androgens

In the present study we evaluated the toxic effects on the male adult rat prostate of DBP exposure during fetal and lactational periods, because although many studies have addressed the influence of phthalates on the male reproductive system, only a few have discussed their possible effects on prostate development. Pregnant females were distributed into two experimental groups: Control (C) and Treated (T). The females of the T group received DBP (100 mg/kg, by gavage) from gestation day 12 to postnatal day 21, while C rats received the vehicle (corn oil). In adulthood (90 days old), the animals were euthanized. The serum and testicular testosterone levels were measured. Ventral prostate was removed and weighed. Distal segment fragments of the ventral prostate were fixed and processed for histochemistry and immunohistochemistry to detect androgen receptor (AR) and Ki67 antigens. Protein extraction from ventral prostate fragments was performed for AR immunoblotting and Gelatin zymography for MMP-2 and MMP-9 (MMP, metalloproteinase). Stereological and histopathological analyses were also performed. Serum and testicular testosterone levels and prostate weight were comparable between groups. In the T group the relative proportions (%) of epithelial (C=32.86; T=42.04*) and stromal (C=21.61; T=27.88*) compartments were increased, while the luminal compartment was decreased (C=45.54; T=30.08*), *p < 0.05. In T, disseminated inflammatory infiltrate in the stroma, associated or not with epithelial dysplasia and PIN (Prostatic Intraepithelial Neoplasia), was observed. Increases in AR expression, proliferation index and metalloproteinase 9 (MMP-9) activity were noted in T animals. In some T animals, collagen fibrils accumulated adjacent to the epithelium. As far as we are aware, this is the first report in the literature showing that phthalates could play a role in proliferative and inflammatory disorders of the rat prostate. (C) 2009 Elsevier Ireland Ltd. All rights reserved.

International adoption: Symptoms of attachment disorders and their associations with the child’s background and developmental outcome

Many internationally adopted children have lived their first years of life in an environment with limited opportunities for primary caregiving. The lack of consistent care increases the prevalence of attachment disorders among them. Less is known about the influences of attachment disorders on a child’s later course of life. This study is part of the Finnish Adoption Study. Parents of all Finnish children who had been internationally adopted by legal adoption organisations between 1985 and 2007 were sent questionnaires (N=1450). Parental evaluations of the children’s symptoms of reactive attachment disorder (RAD) at the time of adoption, their later learning or language problems using a screening scale, and children’s self-reported school bullying experiences were evaluated. Each child’s attachment-related behavioural problems were requested in a follow-up survey 1.9 and 3.8 years after adoption and compared with a Finnish reference group. This study indicated that Finnish internationally adopted children have at least three-fold prevalence of learning and language problems compared with their age-mates. A child’s symptoms of attachment disorders were associated with learning or language problems at school age as well as with his/her school bullying experiences. The adopted children had more attachment-related behavioural problems two years after adoption than their age-mates, but the difference was no longer evident four years after adoption. In conclusion, this study showed that the symptoms of attachment disorder indicate a risk for an adopted child’s later developmental outcome. The findings demonstrate the need for comprehensive clinical examinations and planning of treatment strategies for children with symptoms of RAD.

Multi-sensory treatment for children with developmental motor speech disorders

What this paper adds? What is already known on the subject? Multi-sensory treatment approaches have been shown to impact outcome measures positively, such as accuracy of speech movement patterns and speech intelligibility in adults with motor speech disorders, as well as in children with apraxia of speech, autism and cerebral palsy. However, there has been no empirical study using multi-sensory treatment for children with speech sound disorders (SSDs) who demonstrate motor control issues in the jaw and orofacial structures (e.g. jaw sliding, jaw over extension, inadequate lip rounding/retraction and decreased integration of speech movements). What this paper adds? Findings from this study indicate that, for speech production disorders where both the planning and production of spatiotemporal parameters of movement sequences for speech are disrupted, multi-sensory treatment programmes that integrate auditory, visual and tactile–kinesthetic information improve auditory and visual accuracy of speech production. The training (practised in treatment) and test words (not practised in treatment) both demonstrated positive change in most participants, indicating generalization of target features to untrained words. It is inferred that treatment that focuses on integrating multi-sensory information and normalizing parameters of speech movements is an effective method for treating children with SSDs who demonstrate speech motor control issues.

Long-term effects of developmental exposure to di-n-butyl-phthalate (DBP) on rat prostate: Proliferative and inflammatory disorders and a possible role of androgens

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

Developmental speech and language disorders : hope through research /

Mode of access: Internet.