Comprehension of passives in Persian speaking children with ASD : an investigation of grammar in autism

Most research on the underlying causes of social and communicative impairment in autism spectrum disorders (ASD) has been devoted to pragmatic aspects of language. The present research is exploring the syntactic knowledge as a probable underlying mechanism of language deficit in ASD. Three groups comprising high-functioning ASD, low-functioning ASD, and typically developing 5-year-old Persian-speaking children were tested on comprehension of passive sentences. Results suggest that while low-functioning children with ASD might be impaired in the area of grammar, high-functioning children with ASD are not. The new results are compared to those of two recent studies on comprehension of passives in Greek-speaking and English-speaking subjects with ASD (Perovic et al., 2007; Terzi, et al., to appear).

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

Background: There is increasing evidence that impairment of mitochondrial energy metabolism plays an important role in the pathophysiology of autism spectrum disorders (ASD; OMIM number: 209850). A significant proportion of ASD cases display biochemical alterations suggestive of mitochondrial dysfunction and several studies have reported that mutations in the mitochondrial DNA (mtDNA) molecule could be involved in the disease phenotype. Methods: We analysed a cohort of 148 patients with idiopathic ASD for a number of mutations proposed in the literature as pathogenic in ASD. We also carried out a case control association study for the most common European haplogroups (hgs) and their diagnostic single nucleotide polymorphisms (SNPs) by comparing cases with 753 healthy and ethnically matched controls.Results: We did not find statistical support for an association between mtDNA mutations or polymorphisms and ASD.Conclusions: Our results are compatible with the idea that mtDNA mutations are not a relevant cause of ASD and the frequent observation of concomitant mitochondrial dysfunction and ASD could be due to nuclear factors influencing mitochondrion functions or to a more complex interplay between the nucleus and the mitochondrion/mtDNA.

L'ús de la cançó per a potenciar el desenvolupament del llenguatge d'un nen autista

L’ús de la cançó per a potenciar el desenvolupament del llenguatge d’un nen autista és un projecte que pretén donar una visió de la música com a eina per al desenvolupament del llenguatge verbal i no verbal dels nens amb diagnòstic de TEA (Trastorn de l’Espectre Autista). Busca també fer una revisió bibliogràfica en aquest camp per conèixer i relacionar una mica més aquests móns sovint desconeguts. Finalment, presenta un programa d’intervenció adreçat específicament a quatre alumnes amb TEA, amb necessitats i objectius diferents, amb el pertinent seguiment, anàlisi de les dades recollides durant la intervenció, conclusions, i noves vies de treball que es podrien dur a terme.

Training referential communicative skills to individuals with autism spectrum disorder: a pilot study

Summary. The present study reports the effects of referential communication training in individuals formally diagnosed with autism spectrum disorder (ASD). Participants were 20 children with ASD (M age = 14.3 yr., SD = 4.2; 6 girls, 14 boys) in the role of speakers and 20 control children, who acted as listeners. They were all enrolled in mainstream compulsory education. Inclusion/exclusion criteria were defined according to the clinical diagnosis of ASD, the presence or absence of additional or associated disability, previous training in referential communication, and any drug treatment. Speakers were randomly assigned to one of two groups (trained vs untrained). Linguistic age, cognitive level, and autistic symptoms were analyzed, respectively, with the Peabody Picture Vocabulary Test (PPVT), the Wechsler Intelligence Scale (WISCR or WAISIII), and the Autistic Behavior Checklist (ABC). Communicative abilities were analyzed through two indexes related to message complexity and self-regulation. The trained group was trained in referential communication tasks (task analysis, role taking, and task evaluation), while the untrained group took part in a communicative game but without any specific communicative training. The results showed that the complexity of emitted messages had improved statistically significantly in the trained group as an effect of training. Ecological referential communication is shown to be an appropriate paradigm for studying the communicative process and its products and could be used to develop and implement a training program focused on those skills in which individuals with ASD are most deficient.

Pla d'intervenció individual en la dislèxia i suport a les famílies en el trastorn per dèficit d'atenció i hiperactivitat

Aquest projecte té com a objectiu principal la intervenció en un context d'educació formal, obtenir experiència professional i definir quin és realment el paper del psicopedagog. Consta de tres activitats: un taller per a pares i mares de nens amb TDAH, un pla reeducatiu per a una alumna amb dislèxia i un taller de competència social per a nens amb TEA. El procés d'investigació-acció ha regit tot el procés, el qual es basa en els principis bàsics de la LEC (12/2009) de qualitat i equitat educativa i d'atenció a la diversitat, mitjançant el model col·laboratiu des d'un enfocament educacional constructiu. La comparació entre la teoria i la pràctica ha estat un punt clau per a concloure quina és la millor metodologia a emprar per a cada cas.

Identifying the parent-of-origin of de novo SNVs in schizophrenia

Several studies over the last few years have shown that newly arising (de novo) mutations contribute to the genetics of schizophrenia (SZ), autism (ASD) and other developmental disorders. The strongest evidence comes from studies of de novo Copy Number Variation (CNV), where the rate of new mutations is shown to be increased in cases when compared to controls [23, 24]. Research on de novo point mutations and small insertion-deletions (indels) has been more limited, but with the development of next-generation sequencing (NGS) technology, such studies are beginning to provide preliminary evidence that de novo single-nucleotide mutations (SNVs) might also increase risk of SZ and ASD [25, 26] Advanced paternal age is a major source of new mutations in human beings [27] and could thus be associated with increased risk for developing SZ, ASD or other developmental disorders. Indeed, advanced paternal age is found to be a risk factor for developing SZ and ASD in the offspring [28, 29] and new mutations related to advanced paternal age have been implicated as a cause of sporadic cases in several autosomal dominant diseases, some neurodevelopmental diseases, including SZ and ASD, and social functioning. New single-base substitutions occur at higher rates at males compared to females and this difference increases with paternal age. This is due to the fact that sperm cells go through a much higher number of cell divisions (~840 by the age of 50), which increases the risk for DNA copy errors in the male germ line [30] . By contrast, the female eggs (oocytes) undergo only 24 cell divisions and all but the last occur during foetal life. The aim of my project is to determine the parent-of-origin of de novo SNVs, using large samples of parent-offspring trios affected with schizophrenia (SZ). From whole exome sequencing of 618 Bulgarian proband-offspring trios affected, nearly 1000 de novo (SNVs or small indels) have been identified and from these, the parent-of-origin of at least 60% of the mutations (N=600) can be established. This project is contained in a main one that consists on the determination of the parental origin of different types of de novo mutations (SNVs, small indels and large CNVs).

La relaxació a l'educació infantil com a eina per fomentar un bon clima d'aula a l'escola inclusiva

La relaxació és una eina inclusiva dins l’escola que ajuda a treballar la competència emocional. La investigació parteix de l’ús de diferents tècniques de relaxació per poder ajudar, a l’alumnat d’educació infantil, a adquirir un grapat de coneixements per regular les seves emocions i l’estrès. L’estudi té com a objectiu la pràctica de diferents tècniques i jocs en una aula de P4 amb alumnes que presenten Trastorn de l’Espectre Autista. Les dades recollides i analitzades fan possible afirmar que la relaxació dóna beneficis tant a nivell personal com social i permet el treball de les emocions.