Browsing by Subject "autism"

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  • Toikka, Joanna (Helsingin yliopisto, 2022)
    Aim. The aim of this study was to examine the experiences of adults on the autism spectrum of being themselves and the factors related to masking in higher education and transitioning to working life. Previous studies have shown that many people on the autism spectrum feel the need to mask their characteristics typical of the autism spectrum. It has been found that masking can have negative effects on the mental health and wellbeing of the person who masks. This study reveals the experiences of adults on the autism spectrum of being themselves and which factors are related to masking. Methods. The data of the study consisted of the interviews collected for the international IMAGE project. The participants were adults on the autism spectrum from Finland (n=7) and the United Kingdom (n=5). The data was analyzed in the phenomenological framework using qualitative, data-driven content analysis. Results and conclusions. The results showed that the diagnosis of autism spectrum was reported mainly for a specific reason, not spontaneously. Experiences of being accepted ranged from positive to negative, and it was particularly challenging to be oneself in extracurricular activities. Three themes emerged in the factors related to masking. First, masking and openness on the other hand were associated with the concern about their consequences: participants considered possible negative consequences on job search, other people and themselves. Another factor related to masking was social environment. Masking increased when the person on the autism spectrum did not know their company, while knowledge about the autism spectrum and friendly attitude reduced it. What is more, one’s own opinion of the autism spectrum was related to masking. A positive attitude towards the autism spectrum reduced the need for masking, while one's own or others' negative experiences of being open about the autism spectrum increased its hiding. In higher education and workplaces, it would be important to reinforce factors that increase the possibility for the people on the autism spectrum to be themselves and not mask if they wish so.
  • Pesonen, Henri; Tuononen, Tarja; Fabri, Marc; Lahdelma, Minja (2022)
    An unprecedented number of autistic people are completing university and they frequently face unemployment after graduation. However, research focusing on the forms of graduate capital and their employability is scarce. The focus of existing research has been on non-autistic, or neurotypical, graduates. The human, social, cultural, identity and psychological capital might be different for autistic graduates due to the characteristics of autism. Using a participatory approach, our aim was to examine the five areas of graduate capital in the context of autistic graduates. The study involved semi-structured interviews with 15 autistic university graduates from England, Finland, France and the Netherlands. Data were analysed using theory guided content analysis and 'datadriven' approaches. Findings indicate that the five areas of graduate capital are particularly relevant to autistic graduates, who typically expose gaps in several capital, jeopardising their employability.
  • Wiklund, Mari; Ihaksinen, Kia; Vainio, Martti (2021)
    Autism spectrum disorder is a neurobiological developmental disorder, characterized e.g. by problems of social interaction, over-sensitity to sensory stimuli as well as restricted interests (APA, 2013). People afflicted with autism spectrum disorder (ASD) often have deviant prosodic features in their speech. This article focuses on the utterance-final rising pitch and its use in questions and narrative turns in the spontaneous interaction of boys with ASD. The topic is important because even if autistic persons’ prosodic features have already been studied rather extensively, spontaneous interaction, which allows observing the use of intonation by persons with ASD, has been studied very little before. The data originate from authentic group therapy sessions where 11–13-year-old boys afflicted with ASD talk with their therapists. Methods of phonetics and conversation analysis are used in the study. The results of the study suggest that boys with ASD are able to use utterance-final rising pitch as an interactional resource as well as to produce and interpret correctly prosodic features that indicate finality in spontaneous interaction. They are also able to emphasize words with the help of prosodic features, call for other participants’ reactions and indicate that they take other participants into account with the help of utterance-final pitch rises. Thus, boys with ASD seem to be able to use intonation as an interactional resource, even though reciprocal interaction is generally speaking difficult for people afflicted with autism (APA, 2013).
  • Jarvinen, Anna; Laine, Merja K.; Tikkanen, Roope; Castren, Maija L. (2019)
    Individuals with autism spectrum disorder (ASD) frequently display intensely repetitive, restricted thoughts, and behaviors. These behaviors have similarities to compulsions and/ or obsessions in obsessive compulsive disorder (OCD) and are primarily treated with behaviourally-based interventions and serotonin uptake inhibitors (SSRIs). Due to the lack of treatment responses in many cases, however, new treatments are being sought. Here we report beneficial effects of treatment with liraglutide, a glucagon-like peptide-1 (GLP-1) analog, on severe obsessive food craving, binge eating, weight gain, and behavioral problems in an adolescent male with infantile autism and moderate intellectual impairment. Liraglutide treatment reduced weight and unwanted behavior seemingly by preventing food-related repetitive thoughts and compulsions. Our report provides clinical evidence that GLP-1 signaling pathway may represent a novel target for treating food-related behavioral problems and aggressive behavior in ASD.
  • Wiklund, Mari; Laakso, Minna (2020)
    This paper analyses disfluencies and ungrammatical expressions in the speech of 11–13-year-old Finnish-speaking boys with ASD (N = 5) and with neurotypical development (N=6). The ASD data were from authentic group therapy sessions and neurotypical data from teacher-led group discussions. The proportion of disfluencies and ungrammatical expressions was greater in the speech of participants with ASD (26.4%) than in the control group (15.5%). Furthermore, a qualitative difference was noted: The ASD group produced long, complex disfluent turns with word searches, self-repairs, false starts, fillers, prolongations, inconsistent syntactic structures and grammatical errors, whereas in the control group, the disfluencies were mainly fillers and sound prolongations. The disfluencies and ungrammatical expressions occurring in the ASD participants’ interactions also caused comprehension problems.
  • Uutela, Marko; Lindholm, Jesse; Rantamaki, Tomi; Umemori, Juzoh; Hunter, Kerri; Voikar, Vootele; Castren, Maija L. (2014)
  • Danesi, Claudia Elisabetta; Keinänen, Kari Pekka; Castren, Maija Liisa (2019)
    Fragile X syndrome (FXS) is a neurodevelopmental disorder that represents a common cause of intellectual disability and is a variant of autism spectrum disorder (ASD). Studies that have searched for similarities in syndromic and non-syndromic forms of ASD have paid special attention to alterations of maturation and function of glutamatergic synapses. Copy number variations (CNVs) in the loci containing genes encoding alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid receptors (AMPARs) subunits are associated with ASD in genetic studies. In FXS, dysregulated AMPAR subunit expression and trafficking affect neural progenitor differentiation and synapse formation and neuronal plasticity in the mature brain. Decreased expression of GluA2, the AMPAR subunit that critically controls Ca2+-permeability, and a concomitant increase in Ca2+-permeable AMPARs (CP-AMPARs) in human and mouse FXS neural progenitors parallels changes in expression of GluA2-targeting microRNAs (miRNAs). Thus, posttranscriptional regulation of GluA2 by miRNAs and subsequent alterations in calcium signaling may contribute to abnormal synaptic function in FXS and, by implication, in some forms of ASD.
  • Parkkinen, Kimmo (Helsingfors universitet, 2002)
    Tutkimuksessa selvitettiin autismiluokan oppilaiden fyysisen väkivaltakäyttäytymiseen yhteydessä olevia oppilas- ja opetusympäristötekijöitä. Tutkimuksen kohderyhmänä oli kaikki Suomen autismiluokkien oppilaat ja vertailuryhminä oli EHA1- ja EHA2- luokan oppilaita. Tutkimusote oli kvantitatiivinen, tutkimusaineisto kerättiin kyselylomakkeilla. Tutkimuskyselyyn vastasivat luokkien opettajat. Aineiston käsittelyssä pääasialliset analyysimenetelmät olivat faktori-, varianssi- ja regressioanalyysi. Tutkimuksen pääongelmat: 1. Millaista on tutkituilla oppilailla esiintynyt fyysinen väkivaltakäyttäytyminen? 2. Millaiset oppilastekijät ovat yhteydessä fyysiseen väkivaltakäyttäytymiseen? 3. Miten luokkatoiminnot ja autismiluokan henkilökunnan toiminta ovat yhteydessä oppilaiden fyysiseen väkivaltakäyttäytymiseen? Tutkimustulokset osoittivat, että autismiluokan oppilaiden fyysinen väkivaltakäyttäytyminen oli huomattavasti vertailuryhmien (EHA1 Ja EHA2) oppilaita runsaampaa. Autismiluokan oppilaiden yleisimpiä fyysisen väkivaltakäyttäytymisen muotoja olivat toisiin kohdistuneet lyömiset, puremiset, raapimiset tukistamiset ja tönimiset. Itseen kohdistui eniten puremista ja lyömistä. Autistien akateemiset taidot olivat tutkimuksen mukaan selvästi heidän sosiaalisia taitojaan paremmat. Runsaimmin fyysistä väkivaltakäyttäytymistä raportoitiin olevan niillä autismiluokan oppilailla, joilla oli hyvät akateemiset, mutta heikot sosiaaliset taidot. Väkivaltakäyttäytymistä edeltävissä tilanteissa ja toiminnoissa korostui yleisimmin yllätys-, siirtymis- ja odottamistilanteet. Väkivaltaa edeltävät vuorovaikutustilanteet olivat pääosin henkilökunnan johtamia käskynantotilanteita. Näissä tilanteissa oppilasta ohjattiin vaatimuksilla tai kielloilla. Fyysiseen väkivaltatilanteeseen puuttumiseen käytetyistä välittömistä interventiomenetelmistä yleisin oli fyysinen ohjaaminen. Tällä ohjausmuodoilla oli heikoin oppilaan rauhoittumista edistävä vaikutus. Parhaimmat intervention vaikutukset saatiin huomiotta jättämisellä tai huomion siirtämisellä muualle. Tutkimuksen teoreettinen viitekehys perustui pääosin Kauffmanin sosiaalis-kognitiiviseen väkivaltateoriaan ja Schoplerin autistien häiriökäyttäytymistä kuvaavaan malliin. Kokonaisotos autismiluokan oppilaista antoi hyvän kuvan koko Suomen autismiluokilla esiintyvästä fyysisen väkivallan ilmiöstä. Tutkimuksen käytäntöön sovellettavuus liittyy autistien opetuksen kehittämiseen, fyysisen väkivaltakäyttäytymisen ennaltaehkäisyn suunnittelutyössä ja opetushenkilökunnan väkivallan kohtaamisen tukemiseen
  • Bergström, Myrna Sofia Regina (2007)
    På uppdrag av Autism- och Aspergerförbundet har jag undersökt ett projekt som försiggår på en ungdomsgård. Projektet är ett samarbete mellan en eftermiddagsverksamhet för ungdomar med autism och en ungdomsgård. Huvudsyftet med projektet är att ungdomarna med autism, som i det här fallet alla är pojkar, skall få fungera med andra unga människor. Normaliseringsprincipen handlar om att personer med utvecklingsstörning och funktionshinder skall få uppleva vardagsvillkor och levnadsmönster som ligger så nära det normala som möjligt. I avhandlingen diskuterar jag Bengt Nirjes syn på normaliseringsprincipen samt frågor kring normalitet. Även begreppen integration, inklusion och segregation diskuteras. Till socalarbetets grunduppgifter hör att minska på social utstötning och diskriminering, vilket man gör med att skydda svaga människor och utveckla system som hjälper människor att utnyttja sina egna resurser. Med projektet på ungdomsgården vill man utveckla de autistiska pojkarnas sociala färdigheter samt färdigheter i att behärska fritiden. Jag har i min pro-gradu avhandling haft denna verksamhet som material i min undersökning. Genom att skapa mig en helhetsbild av projektet har jag forskat i hur inkluderingen av pojkarna med autism fungerar på ungdomsgården. För att skapa mig en helhetsbild har jag gjort en fallstudie, i vilken det ingått deltagande observation, intervjuer med föräldrar samt intervjuer med dem som jobbar på eftermiddagsklubben. På grund av svårigheter i att hitta forskning kring inklusion av personer md autism har jag även använt mig av inklusionsforskning gällande utvecklingsstörda och funktionshindrade. Jag har mest hänvisat till nordisk inklusionsforskning, bl.a. en longitudinell undersökning av Tullie Rabe och Anders Hill samt Borggunn Ytterhus forskning kring barns sociala resurser. De autistiska pojkarna var väldigt olika varandra. Därför var utgångsläget med tanke på inklusion olika för envar. Alla pojkar trivdes dock på ungdomsgården och med att få vara med andra unga människor. Många av pojkarna sökte sig till de andra människorna trots att de nödvändigtvis inte kunde kommunicera med dem och de påverkades av stämningen på ungdomsgården. På ungdomsgården var det mera fråga om fysisk inklusion medan social inklusion endast skedde i enstaka fall.
  • Ning, Zhenfei; Williams, John M.; Kumari, Romika; Baranov, Pavel; Moore, Tom (2019)
    Autism is a genetically complex neurobehavioral disorder with a population prevalence of more than 1%. Cerebella abnormalities, including Purkinje cell deficits in the vermis, are consistently reported, and rodent models of cerebellar dysfunction exhibit features analogous to human autism. We previously analyzed the regulation and expression of the pseudoautosomal region 2 gene SPRY3, which is adjacent to X chromosome-linked TMLHE, a known autism susceptibility gene. SPRY3 is a regulator of branching morphogenesis and is strongly expressed in Purkinje cells. We previously showed that mouse Spry3 is not expressed in cerebella vermis lobules VI-VD and X, regions which exhibit significant Purkinje cell loss or abnormalities in autism. However, these lobules have relatively high expression of p75NTR, which encodes a neurotrophin receptor implicated in autism. We propose a mechanism whereby inappropriate SPRY3 expression in these lobules could interact with TrkB and p75NTR signaling pathways resulting in Purkinje cell pathology. We report preliminary characterization of X and Y chromosome-linked regulatory sequences upstream of SPRY3, which are polymorphic in the general population. We suggest that an OREG-annotated region on chromosome Yq12 similar to 60 kb from SPRY3 acts as a silencer of Y-linked SPRY3 expression. Deletion of a beta-satellite repeat, or alterations in chromatin structure in this region due to trans-acting factors, could affect the proposed silencing function, leading to reactivation and inappropriate expression of Y-linked SPRY3. This proposed male-specific mechanism could contribute to the male bias in autism prevalence.
  • Wiklund, Satu Mari-Anna; Vainio, Martti Tapani (Cambridge Scholars Publishing, 2019)
    It is known that persons afflicted with autism often have deviant prosodic features in their speech. For example, they may have a limited range of intonation, their speech can be overly fast, jerky or loud, or it can be characterized by large pitch excursions, quiet voice, inconsistent pause structure, prominent word stress and/or by creaky or nasal voice (Paul et al. 2005a; Paul et al. 2005b; Shriberg et al. 2001; Provonost et al. 1966; Rutter & Lockyer 1967; Ornitz & Ritvo 1976; Fay & Schuler 1980; Tager-Flusberg 1981; Baltaxe & Simmons 1985, 1992; Paul 1987; McPartland & Klin 2006; Tager-Flusberg 2000). Moreover, it has been shown that people afflicted with autism have difficulties to produce affective prosodic patterns (Scott 1985). Fine et al. (1991) have however reported that autistic subjects are able to employ useful prosodic patterns for communication. Producing appropriate stress patterns can nevertheless be difficult for them (Paul et al. 2005a, Paul et al. 2005b). Shriberg et al. (2001) report that persons with autism have notable deficits in pragmatic and affective use of prosody, but they do not have difficulties with the grammatical functions of prosody. Deviant prosodic features of speech do not, however, concern every individual afflicted with autism (Simmons & Baltaxe 1975; Paul et al. 2005b). Nevertheless, when these features occur, they constitute a significant obstacle to the social acceptance of the individual (Paul et al. 2005a: 205). Indeed, deviant prosodic features may create an immediate impression of “oddness” (VanBourgondien & Woods 1992), and they affect autistic speakers’ ratings of social and communicative competence (Paul et al. 2005b). The aim of this paper is to present different salient prosodic features occurring in slightly autistic preadolescents’ speech. The data come from authentic group therapy sessions where 11–13-year-old Finnish-speaking boys (N = 7) and French-speaking boys (N = 4) speak with each other and with their two therapists. The paper will focus on the following features: large pitch excursions, bouncing pitch, flat pitch, jerky rhythm, slow speech rate and fast speech rate. Some of these features occur only in Finnish or in French, whereas some others can be found in both languages. It is also interesting that some of them occur all the time in the speech of an individual, whereas some others occur only in certain types of contexts. The analyses have been carried out using methods of phonetics.
  • Itkonen, Siiri (Helsingin yliopisto, 2022)
    Autismikirjon ihmisten kokemus sukupuolesta poikkeaa muita useammin yhteiskunnan binaarista sukupuolinormista. Tämän tutkielman tavoitteena oli tarkastella Scopus-tietokantahakuun perustuen, miten autismi vaikuttaa sukupuolen kokemukseen ja miten sukupuolikokemus vaikuttaa autismikirjon ihmisten elämään. Tutkimukset jaettiin lääketieteen ja psykologian, eriarvoisuuden sekä sukupuolen käsitteen ylittävään näkökulmaan. Autismikirjon piirteille ja sukupuolen moninaisuudelle ei löytynyt kasvuun ja kehitykseen liittyvää yhteistä selittävää tekijää. Autismikirjon ihmisillä oli huomattavissa lapsesta asti syntymässä määritetyn sukupuolen stereotyyppisestä ilmentämisestä poikkeavaa sukupuolen ilmentämistä ja sukupuoleen identifioitumista. Myös muut kuin heteroseksuaaliset suuntautumiset olivat yleisempiä autismikirjon ihmisillä verrattuna verrokkiväestöön. Autismikirjon piirteiden ja sukupuolen moninaisuuden yhteys oli tutkimusten perusteella selvä. Sukupuoleltaan moninaisilla autismikirjon ihmisillä havaittiin huomattavasti enemmän mielenterveyden häiriöitä ja työttömyyttä. Lääkäreiden keskuudessa haasteeksi koettiin sukupuoleltaan moninaisten autismikirjon ihmisten erityiskysymyksiin nähden riittämätön koulutus. Sukupuoleltaan moninaiset autismikirjon ihmiset kokivat autismin vaikuttavan vuorovaikutukseen ja vakavasti otettavuuteen terveydenhuollossa. Yhteiskunnassa vallitseva transfobia aiheutti pelkoa ja epävarmuutta sukupuolikokemuksen julkituomisessa. Vähemmistöyhteisöt koettiin positiivisena, ja transitio hyvinvointia tuovana asiana. Sukupuolen käsitteen ylittävässä näkökulmassa kyseenalaistettiin yhteiskunnan sukupuolinormit ja sukupuolille asetetut oletukset. Lähtökohdaksi autismikirjon ihmisten tutkimukseen nähtiin se, että autismikirjon ihmiset eivät pystyisi tarjoamaan asianmukaista näkemystä omaan käytökseensä. Tästä näkökulmasta tarjottiin teoriaa, jossa autismikirjon ihmisten kokemus sukupuolesta olisikin pätevä ja autenttinen, ja joiden kautta pystyisimme oppimaan sukupuolesta autismikirjon ihmisten näkemyksen kautta. Loppupäätelmänä tutkielmalle totean, että tulevaisuudessa on tarvetta tutkimukselle autismikirjon ihmisten seksuaalisuudesta ja sukupuolen kokemuksesta, erityisesti yhteiskunnan vaikutuksesta sukupuolen kokemukseen.
  • Oldereid, Nan B.; Wennerholm, Ulla-Britt; Pinborg, Anja; Loft, Anne; Laivuori, Hannele; Petzold, Max; Romundstad, Liv Bente; Soderstrom-Anttila, Viveca; Bergh, Christina (2018)
    BACKGROUND: Maternal factors, including increasing childbearing age and various life-style factors, are associated with poorer short- and long-term outcomes for children, whereas knowledge of paternal parameters is limited. Recently, increasing paternal age has been associated with adverse obstetric outcomes, birth defects, autism spectrum disorders and schizophrenia in children. OBJECTIVE AND RATIONALE: The aim of this systematic review is to describe the influence of paternal factors on adverse short- and long-term child outcomes. SEARCH METHODS: PubMed, Embase and Cochrane databases up to January 2017 were searched. Paternal factors examined included paternal age and life-style factors such as body mass index (BMI), adiposity and cigarette smoking. The outcome variables assessed were short-term outcomes such as preterm birth, low birth weight, small for gestational age (SGA), stillbirth, birth defects and chromosomal anomalies. Long-term outcome variables included mortality, cancers, psychiatric diseases/disorders and metabolic diseases. The systematic review follows PRISMA guidelines. Relevant meta-analyses were performed. OUTCOMES: The search included 14 371 articles out of which 238 met the inclusion criteria, and 81 were included in quantitative synthesis (meta-analyses). Paternal age and paternal life-style factors have an association with adverse outcome in offspring. This is particularly evident for psychiatric disorders such as autism, autism spectrum disorders and schizophrenia, but an association is also found with stillbirth, any birth defects, orofacial clefts and trisomy 21. Paternal height, but not BMI, is associated with birth weight in offspring while paternal BMI is associated with BMI, weight and/or body fat in childhood. Paternal smoking is found to be associated with an increase in SGA, birth defects such as congenital heart defects, and orofacial clefts, cancers, brain tumours and acute lymphoblastic leukaemia. These associations are significant although moderate in size, with most pooled estimates between 1.05 and 1.5, and none exceeding 2.0. WIDER IMPLICATIONS: Although the increased risks of adverse outcome in offspring associated with paternal factors and identified in this report represent serious health effects, the magnitude of these effects seems modest.
  • Sarkar, Amar; Harty, Siobhan; Johnson, Katerina V-A; Moeller, Andrew H.; Carmody, Rachel N.; Lehto, Soili M.; Erdman, Susan E.; Dunbar, Robin I. M.; Burnet, Philip W. J. (2020)
    Microbes colonise all multicellular life, and the gut microbiome has been shown to influence a range of host physiological and behavioural phenotypes. One of the most intriguing and least understood of these influences lies in the domain of the microbiome's interactions with host social behaviour, with new evidence revealing that the gut microbiome makes important contributions to animal sociality. However, little is known about the biological processes through which the microbiome might influence host social behaviour. Here, we synthesise evidence of the gut microbiome's interactions with various aspects of host sociality, including sociability, social cognition, social stress, and autism. We discuss evidence of microbial associations with the most likely physiological mediators of animal social interaction. These include the structure and function of regions of the 'social' brain (the amygdala, the prefrontal cortex, and the hippocampus) and the regulation of 'social' signalling molecules (glucocorticoids including corticosterone and cortisol, sex hormones including testosterone, oestrogens, and progestogens, neuropeptide hormones such as oxytocin and arginine vasopressin, and monoamine neurotransmitters such as serotonin and dopamine). We also discuss microbiome-associated host genetic and epigenetic processes relevant to social behaviour. We then review research on microbial interactions with olfaction in insects and mammals, which contribute to social signalling and communication. Following these discussions, we examine evidence of microbial associations with emotion and social behaviour in humans, focussing on psychobiotic studies, microbe-depression correlations, early human development, autism, and issues of statistical power, replication, and causality. We analyse how the putative physiological mediators of the microbiome-sociality connection may be investigated, and discuss issues relating to the interpretation of results. We also suggest that other candidate molecules should be studied, insofar as they exert effects on social behaviour and are known to interact with the microbiome. Finally, we consider different models of the sequence of microbial effects on host physiological development, and how these may contribute to host social behaviour.
  • Wiklund, Mari; Määttä, Simo K. (2021)
    The focus in this paper is on how two therapists orient a group of four French-speaking boys with autism spectrum disorder (ASD) towards achieving meaningful learning outcomes with regard to the topic of conversation. The analysis concentrates on the therapists’ output or response strategies when they orient the group discussion and assess speech produced by the children, either validating it or parts of it, or inviting them to provide more valid input. The material to be analysed comprises salient linguistic and interactional features in five examples representing the most frequent response categories. In terms of methodology, the study falls within the framework of conversation analysis, although insights from discourse analysis are also used to enhance the data interpretation. The results show that although a specific response category may have many functions, the aim in all of them is to maintain intersubjectivity among the participants. This is visible in the absence of overtly negative feedback, for example. The prosody gives strong clues concerning the additional meanings in the therapists’ response particles. Whereas the children maintain eye contact and show nuanced expressions such as smiling, the therapists’ attention is often directed towards notetaking and writing artefacts, behaviour that contradicts the ideal of “typical” communication.
  • Putkonen, Noora; Laiho, Asta; Ethell, Doug; Pursiheimo, Juha; Anttonen, Anna-Kaisa; Pitkonen, Juho; Gentile, Adriana M.; de Diego-Otero, Yolanda; Castren, Maija L. (2020)
    A triplet repeat expansion leading to transcriptional silencing of the FMR1 gene results in fragile X syndrome (FXS), which is a common cause of inherited intellectual disability and autism. Phenotypic variation requires personalized treatment approaches and hampers clinical trials in FXS. We searched for microRNA (miRNA) biomarkers for FXS using deep sequencing of urine and identified 28 differentially regulated miRNAs when 219 reliably identified miRNAs were compared in dizygotic twin boys who shared the same environment, but one had an FXS full mutation, and the other carried a premutation allele. The largest increase was found in miR-125a in the FXS sample, and the miR-125a levels were increased in two independent sets of urine samples from a total of 19 FXS children. Urine miR-125a levels appeared to increase with age in control subjects, but varied widely in FXS subjects. Should the results be generalized, it could suggest that two FXS subgroups existed. Predicted gene targets of the differentially regulated miRNAs are involved in molecular pathways that regulate developmental processes, homeostasis, and neuronal function. Regulation of miR-125a has been associated with type I metabotropic glutamate receptor signaling (mGluR), which has been explored as a treatment target for FXS, reinforcing the possibility that urine miR-125a may provide a novel biomarker for FXS.
  • Lahdelma, Minja (Helsingin yliopisto, 2021)
    Goals. The aim of this study was to examine the challenges autistic university students face when searching for a job, and the supporting structures that universities offer. Research on autistic graduates’ transition between university and employment is scarce. The numbers of autistic students are on the rise in higher education. It is important to evaluate the structures that universities have in place to support their transition into employment. The autism spectrum condition manifests differently with every individual but there are some common characteristics: challenges in social interaction and communication, as well as repetitive and/or restricted behaviour. These characteristics can present challenges during job application. Research shows that especially job application and the processes involving it can create barriers for autistic graduates. Methods. The data is collected as a part of the IMAGE Project. Participants were Finnish autistic university students or recent graduates (n=7) and career advisors (n=5). Data was collected through semi-structured interviews during spring 2019. The interviews were transcribed and then analysed using grounded theory. Results and conclusions. This study shows that many autistic students didn’t use career services even though they recognized needs for support in searching for a job. Three aspects affected students seeking support from career services: 1) need for support and recognising it, 2) meeting the need for support and 3) accessibility of support. Many of the support needs expressed by autistic students were met by services offered by universities, but problems with accessibility of career services created barriers which hindered students from using the services. There were structures in place that guided students into career services but often getting help demanded that students actively seek it. This demand for self-directness may form a barrier for many autistic students. Based on this study universities should create systematic structures that guide students into services as effortlessly as possible.