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Language skills as well as general cognitive skills show a considerable variation in children with autism spectrum disorder (ASD). In previous studies, at least three profiles based on these skills have been suggested; autism with language and non-verbal cognitive skills within the average/normal range (ALN), autism with language disorder (ALD) without concurrent non-verbal cognitive disability, and autism with language disorder and cognitive disability, i.e. autism with a more general delay (AGD). The aim of the present longitudinal case study is to illustrate these three groups more thoroughly by presenting the developmental trajectories of children belonging to each profile. Six children were chosen based on their language and cognitive profiles from the first age 3-year assessment. They came from a larger group of children with ASD identified by autism screening at child health-care centres at age 2.5 years. These six children represent one boy and one girl from each of the three subgroups ALN, ALD and AGD, and were assessed a second time at age 5 and a third time at age 8 years, regarding expressive and receptive language skills, autistic severity and non-verbal cognitive skills. Although preliminary, our results indicate a rather stable developmental trajectory from age 3 to 8 years characterising children with autism based on language and non-verbal cognitive functioning. Thus, in order to help intervention planning and increase predictions of outcome, it seems important to specify both linguistic and cognitive level already at the first assessment in children with ASD.

Recent research has suggested that temporal sequencing of narrative events might be a domain-general ability that underlies oral narrative capacities. The current study investigated this issue in a group of children with known pragmatic and narrative difficulties, namely Autism Spectrum Disorder (ASD). We hypothesized (1) that children with ASD (n = 45) would retell narratives of poorer quality than both chronological age-matched (CAM) children and younger children matched on sentence-level language skills (LM), and (2) that nonverbal temporal sequencing skills would uniquely predict individual differences in oral narrative performance in children with ASD. The results show that children with ASD performed poorer on all measures of oral narrative quality compared with the CAM group, and on eight of ten measures compared with the LM group. Thus, our first hypothesis was confirmed, suggesting that narrative difficulties in ASD cannot be fully explained by impaired language. The second hypothesis was only partly confirmed: nonverbal temporal sequencing explained significant or marginally significant variance in some, but not all, aspects of oral narrative performance of children with ASD. These results are discussed from theoretical and clinical/educational perspectives, in relation to the heterogeneity of language skills in ASD and to domain-general features of narrative processing.

We have developed a False-Belief (FB) understanding task for use on a computer tablet, trying to assess FB understanding in a less social way. It is based on classical FB protocols, and additionally includes a manipulation of language in an attempt to explore the facilitating effect of linguistic support during FB processing. Specifically, the FB task was presented in three auditory conditions: narrative, silent, and interference. The task was assumed to shed new light on the FB difficulties often observed in Autism Spectrum Disorder (ASD). Sixty-eight children with ASD (M = 7.5 years) and an age matched comparison group with 98 typically developing (TD) children were assessed with the FB task. The children with ASD did not perform above chance level in any condition, and significant differences in success rates were found between the groups in two conditions (silent and narrative), with TD children performing better. We discuss implications, limitations, and further developments. Electronic supplementary material The online version of this article (10.1007/s10936-018-9579-2) contains supplementary material, which is available to authorized users.

This study explores current reading profiles and concurrent and early predictors of reading in children with autism spectrum disorder. Before the age of 3 years, the study cohort underwent a neurodevelopmental assessment following identification in a population-based autism screening. At age 8 years, reading, language and cognition were assessed. Approximately half of the sample ( n = 25) were ‘poor readers’ at age 8 years, meaning that they scored below the normal range on tests of single word reading and reading comprehension. And 18 were ‘skilled readers’ performing above cut-offs. The final subgroup ( n = 10) presented with a ‘hyperlexic/poor comprehenders’ profile of normal word reading, but poor reading comprehension. The ‘poor readers’ scored low on all assessments, as well as showing more severe autistic behaviours than ‘skilled readers’. Group differences between ‘skilled readers’ and ‘hyperlexics/poor comprehenders’ were more subtle: these subgroups did not differ on autistic severity, phonological processing or non-verbal intelligence quotient, but the ‘hyperlexics/poor comprehenders’ scored significantly lower on tests of oral language. When data from age 3 were considered, no differences were seen between the subgroups in social skills, autistic severity or intelligence quotient. Importantly, however, it was possible to identify oral language weaknesses in those that 5 years later presented as ‘poor readers’ or ‘hyperlexics’.

Background Parents often recognize problems in their child's development earlier than health professionals do and there is new emphasis on the importance of involving parents in the diagnostic process. In Gothenburg, Sweden, over 100 children were identified as having an autism spectrum disorder (ASD) in 2009–11 through a general population language and autism screening of 2.5 year olds at the city's child healthcare centres. Aims To increase understanding of parents’ lived experience of the neuropsychiatric diagnostic process, i.e. the period from the initial screening at age 2.5 years to the 2-year follow-up of the ASD diagnosis. Methods & Procedures A qualitative design, a phenomenological hermeneutic method, was used. Interviews were conducted with parents of 11 children who were diagnosed with ASD 2 years prior. The parents were interviewed about their experiences of the neuropsychiatric diagnostic process, i.e. the time before the screening, the time during the neuropsychiatric multidisciplinary evaluation and the time after diagnosis. The interviews lasted for 45–130 min, and an interview guide with set questions was used. Most of the interviews were conducted at the parents’ homes. Outcomes & Results The essence that emerged from the data was negotiating knowledge, and the three themes capturing the parents’ experiences of going through the process of having their child diagnosed with ASD were seeking knowledge, trusting and challenging experts, and empowered but alone. Conclusions & Implications The parents expected intervention to start directly after diagnosis but felt they had to fight to obtain the resources their child needed. After the process, they described that they felt empowered but still alone, i.e. although they received useful and important information about their child, they were left to manage the situation by themselves. As for clinical implications, the study points to the necessity of developing routines to support the parents during and after the diagnostic process. Recommended measures include developing a checklist outlining relevant contacts and agencies, establishing a coordinator responsible for each child, dividing the summary meeting at the clinic into two parts, making more than one visit to the preschool, and providing a parental training programme.

The neuron navigator 3 (NAV3) gene on chromosome 12q21 encodes a microtubule plus end tracking protein and belongs to the navigator family of cytoskeletal regulators. Loss of heterozygosity on 12q has previously been suggested to be associated with poor prognosis in cancers of epithelial origin. In this study, we characterized copy number changes of NAV3 in 24 basal cell cancers (BCCs), eight squamous cell cancers (SCCs) and eight non-malignant inflammatory skin lesions by fluorescent in situ hybridization. To identify genes affected by NAV3, we used oligo siRNA gene silencing and gene microarrays to analyse gene expression profiles at several time points post-transfection in primary human keratinocytes. We found NAV3 copy number loss and decreased protein expression in 21% of the BCCs and 25% of the SCCs. In the nodular/superficial BCC subgroup, low-level NAV3 amplification was also observed. NAV3 aberrations were independent of the known chromosome 6 amplifications in BCC. Chromosome 12 polysomy was detected in 33% and 25% of the invasive type of BCC and SCC, respectively. Silencing of NAV3 in primary human keratinocytes revealed 22 differentially expressed genes, mostly related to inflammation. The most relevant of these were validated with qPCR or immunohistochemistry. This pilot study suggests that NAV3 is a novel cancer-associated gene that contributes to the pathogenesis of a subgroup of BCC and SCC.

Parents often recognize problems in their child's development earlier than health professionals do and there is new emphasis on the importance of involving parents in the diagnostic process. In Gothenburg, Sweden, over 100 children were identified as having an autism spectrum disorder (ASD) in 2009-11 through a general population language and autism screening of 2.5 year olds at the city's child healthcare centres.To increase understanding of parents' lived experience of the neuropsychiatric diagnostic process, i.e. the period from the initial screening at age 2.5 years to the 2-year follow-up of the ASD diagnosis.A qualitative design, a phenomenological hermeneutic method, was used. Interviews were conducted with parents of 11 children who were diagnosed with ASD 2 years prior. The parents were interviewed about their experiences of the neuropsychiatric diagnostic process, i.e. the time before the screening, the time during the neuropsychiatric multidisciplinary evaluation and the time after diagnosis. The interviews lasted for 45-130 min, and an interview guide with set questions was used. Most of the interviews were conducted at the parents' homes.The essence that emerged from the data was negotiating knowledge, and the three themes capturing the parents' experiences of going through the process of having their child diagnosed with ASD were seeking knowledge, trusting and challenging experts, and empowered but alone.The parents expected intervention to start directly after diagnosis but felt they had to fight to obtain the resources their child needed. After the process, they described that they felt empowered but still alone, i.e. although they received useful and important information about their child, they were left to manage the situation by themselves. As for clinical implications, the study points to the necessity of developing routines to support the parents during and after the diagnostic process. Recommended measures include developing a checklist outlining relevant contacts and agencies, establishing a coordinator responsible for each child, dividing the summary meeting at the clinic into two parts, making more than one visit to the preschool, and providing a parental training programme.

Communication partner training can be effective in improving communication in aphasia. However, further research is needed on how to measure the outcome of such interventions. In this paper we discuss the phenomenon of reliability in assessments in relation to the results of analyses using a rating scale designed to measure the ability to support a person with aphasia in natural conversational interaction. The scale was used by four assessors to rate 45 video recordings. Calculations of reliability and agreement produced varying results but were mostly satisfactory. However, the results highlight how interaction between factors such as complexity of assessments; design of the rating scale; factors inherent in the individual assessor; and the statistical measures used to analyse the outcome may result in a conflict between aspects of validity and reliability. Interpretations of outcome obtained with rating scales thus need to be based on knowledge about factors influencing the results.

A communicative disability interferes with the affected person's ability to take active part in social interaction, but non-disabled communication partners may use different strategies to support communication. However, it is not known whether similar strategies can be used to compensate for different types of communicative disabilities, nor what factors contribute to the development of a particular approach by communication partners.To develop a set of categories to describe the strategies used by communication partners of adults who have problems expressing themselves due to neurogenic communicative disabilities. The reliability of assessment was a particular focus.The material explored consisted of 21 video-recorded everyday conversations involving seven couples where one spouse had a communicative disability. Three of the dyads included a person with dysarthria and anomia related to later stages of Parkinson's disease, while four of them included a person with stroke-induced aphasia involving anomia. First a qualitative interaction analysis was performed to explore the strategies used by the communication partners when their spouses had problems expressing themselves. The strategies were then categorized, the reliability of the categorizations was explored and the relative frequency of the various strategies was examined.The analysis of the conversational interactions resulted in a set of nine different strategies used by the communication partners without a communicative disability. Each of these categories belonged to one of three overall themes: No participation in repair; Request for clarification or modification; and Providing candidate solutions. The reliability of the categorization was satisfactory. There were no statistically significant differences between diagnoses in the frequency of use of strategies, but the spouses of the persons with Parkinson's disease tended to use open-class initiations of repair more often than the spouses of the persons with aphasia.The types of strategies used by spouses of persons with neurogenic communicative disabilities seem to be more strongly associated with individual characteristics of communicative ability than with the type of disorder involved. The set of categories developed in this study needs to be trialled on larger groups of participants, and modified if and as necessary, before it can be regarded as a valid system for the description of such strategies in general. Once this has been done it may become a useful instrument in the assessment of the strategies used by communication partners of individuals with communicative disabilities.

Copy number changes or reduced expression of the Neuron navigator 3 (NAV3) gene occurs in neuroblastomas and malignancies of epithelial or lymphoid origin. To elucidate whether NAV3 has a role in the tumorigenesis of nervous system tumors in general, we studied central and peripheral nervous system tumors for NAV3 copy number changes. In search for common tumorigenic denominators, we analyzed 113 central and peripheral nervous system tumors, including glial tumors (grades I–IV gliomas), medulloblastomas, and neuroblastomas. NAV3 copy number changes were studied by fluorescence in situ hybridization and correlated to survival analyses. To identify target genes of NAV3 deletion, NAV3 was silenced by siRNA in glioblastoma cell lines and gene expression profiles were analyzed by Agilent 4×44k dual-color microarrays. Selected upregulations were confirmed by immunohistochemistry and quantitative polymerase chain reaction. We found NAV3 amplifications to dominate in neuronally differentiated tumors, whereas glial tumors showed almost equal proportions of NAV3 deletion and amplification. However, Grade IV gliomas had more frequent NAV3 deletions than grades I–III gliomas. Silencing of NAV3 in glioma cell lines led to the upregulation of receptor genes associated with gonadotropin-releasing hormone and Jak-Stat signaling pathways. Kaplan–Meier analysis of the entire clinical tumor material showed association between NAV3 amplifications and favorable prognosis, as well as NAV3 deletions and unfavorable prognosis. With Cox regression model, a hazard ratio of 0.51 was observed for NAV3 amplifications and 1.36 for NAV3 deletions. We conclude that NAV3 may be a potential new prognostic biomarker and a potential therapeutic target. © 2012 Wiley Periodicals, Inc.

The neuron navigator 3 (NAV3) gene on chromosome 12q21 encodes a microtubule plus end tracking protein and belongs to the navigator family of cytoskeletal regulators. Loss of heterozygosity on 12q has previously been suggested to be associated with poor prognosis in cancers of epithelial origin. In this study, we characterized copy number changes of NAV3 in 24 basal cell cancers (BCCs), eight squamous cell cancers (SCCs) and eight non-malignant inflammatory skin lesions by fluorescent in situ hybridization. To identify genes affected by NAV3, we used oligo siRNA gene silencing and gene microarrays to analyse gene expression profiles at several time points post-transfection in primary human keratinocytes. We found NAV3 copy number loss and decreased protein expression in 21% of the BCCs and 25% of the SCCs. In the nodular/superficial BCC subgroup, low-level NAV3 amplification was also observed. NAV3 aberrations were independent of the known chromosome 6 amplifications in BCC. Chromosome 12 polysomy was detected in 33% and 25% of the invasive type of BCC and SCC, respectively. Silencing of NAV3 in primary human keratinocytes revealed 22 differentially expressed genes, mostly related to inflammation. The most relevant of these were validated with qPCR or immunohistochemistry. This pilot study suggests that NAV3 is a novel cancer-associated gene that contributes to the pathogenesis of a subgroup of BCC and SCC.