When does the Autism Spectrum Screening Questionnaire (ASSQ) predict autism spectrum disorders in primary school-aged children?

The aims of this study were, firstly, to study the association between parents’ and teachers’ ratings for the Finnish version of the Autism Spectrum Screening Questionnaire (ASSQ), secondly, to find out whether the original cut-off scores of the ASSQ identify primary school-aged children with Asperger syndrome (AS) or autism by using the Finnish ASSQ, and thirdly, to evaluate the validity of the ASSQ. Parents and/or teachers of higher-functioning (full-scale intelligence quotient ≥ 50) 8-year-old total population school children (n = 4,408) and 7–12-year-old outpatients with AS/autism (n = 47) completed the Finnish version of the ASSQ. Agreement between informants was slight. In the whole total population, low positive correlation was found between parents’ and teachers’ ratings, while in the sample of high-scoring children the correlation turned out to be negative. A cut-off of 30 for parents’ and teacher's summed score and 22 for teachers’ single score is recommended. A valid cut-off for parents’ single score could not been estimated. The clinicians are reminded that the ASSQ is a screening instrument, not a diagnosing instrument. The importance of using both parents’ and teachers’ ratings for screening in clinical settings is underlined

Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hypomelanotic skin disorders like tuberous sclerosis and hypomelanosis of Ito that present with multiple systemic manifestations have been reported in association with childhood autism. Oculocutaneous albinism is another hypomelanotic skin disorder that rarely presents with multiple systemic manifestations. It is infrequently reported in association with childhood autism when compared to tuberous sclerosis and hypomelanosis of Ito.</p> <p>Case presentation</p> <p>This article reports a case of co-morbid childhood autism and oculocutaneous albinism in a 13-year old boy from Nigeria in Sub-Saharan Africa.</p> <p>Conclusion</p> <p>The observation in this case report and in two previous reports which documented association between oculocutaneous albinism and childhood autism both in the affected individuals and families of individuals with childhood autism, raises the question of a possible genetic and clinical association between oculocutaneous albinism and childhood autism. More family and genetic studies into the relationship between oculocutaneous albinism and childhood autism is desirable. This may provide useful clues into the etiology, prevention and management of childhood autism as well as oculocutaneous albinism.</p

Reelin Associated With Restricted and Stereotyped Behavior Based on Principal Component Analysis on Autism Diagnostic Interview-Revised

Tämä artikkeli ei ole avattavissa lehden sivuilta, koska linkit ja DOI vievät väärään artikkeliin samoin PDF sen ohessa. Kustantajalle ilmoitettu ja pyydetty korjausta.Abstract Background: Twin and family studies have indicated a strong genetic component in autism spectrum disorders, and genetic studies have revealed highly heterogeneous risk factors. The range and severity of the symptom presentation also vary in the spectrum. Thus, symptom-based phenotypes are putatively more closely related to the underlying biology of autism than the end-state diagnosis. Methods: We performed principal component analysis on Autism Diagnostic Interview-Revised algorithm for 117 Finnish families and 594 families from the Autism Genetic Research Exchange (AGRE). The resulting continuous component scores were used as quantitative phenotypes in family-based association analysis. In addition, K-means clustering was performed to cluster and visualize the results of the PCA. Unaffected siblings were included in the study. Results: The components were interpreted as Social Component (SC), communication component and Restricted and Stereotyped Behavior Component (RSBC). K-means clustering showed that, especially in SC, the range of the symptom severity was increased by the siblings. The association of neuroligin 1 with SC was increased, compared to a previous study where only the end-state diagnosis was used. In RSBC, the range of the symptom severity of siblings overlapped greatly with that of patients, which could explain why no association of reelin was found in previous studies in which only the end-state diagnosis was used, but a significant association of reelin with RSBC was now found in the Finnish families (Bonferroni-corrected p=0.029 for rs362644). Although, the Finnish sample is isolated and genetically very homogeneous, compared to the heterogeneous background of AGRE families, many single-nucleotide polymorphisms in reelin, showed modest association with RSBC in the AGRE sample, too. Conclusions: This study demonstrates how the quantitative phenotypes can affect the association analyses, and yields further support to the use of siblings in the study of complex neuropsychiatric disorders.Peer reviewe

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

<p>Abstract</p> <p>Background</p> <p>Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the <it>NSD1 </it>gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that <it>NSD1 </it>could be involved in other cases of autism and macrocephaly.</p> <p>Methods</p> <p>We screened the <it>NSD1 </it>gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of <it>NSD1 </it>was carried out using multiplex ligation-dependent probe amplification.</p> <p>Results</p> <p>We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions/duplications were observed.</p> <p>Conclusion</p> <p>Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for <it>NSD1 </it>mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.</p

Medical conditions in autism spectrum disorders

Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical disorder is identified, but the causal significance in many instances is unclear. Currently, the medical conditions that are best established as probable causes of ASD include Fragile X syndrome, Tuberous Sclerosis and abnormalities of chromosome 15 involving the 15q11-13 region. Various other single gene mutations, genetic syndromes, chromosomal abnormalities and rare de novo copy number variants have been reported as being possibly implicated in etiology, as have several ante and post natal exposures and complications. However, in most instances the evidence base for an association with ASD is very limited and largely derives from case reports or findings from small, highly selected and uncontrolled case series. Not only therefore, is there uncertainty over whether the condition is associated, but the potential basis for the association is very poorly understood. In some cases the medical condition may be a consequence of autism or simply represent an associated feature deriving from an underlying shared etiology. Nevertheless, it is clear that in a growing proportion of individuals potentially causal medical conditions are being identified and clarification of their role in etio-pathogenesis is necessary. Indeed, investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD. It is evident therefore, that much can be learnt from the study of probably causal medical disorders as they represent simpler and more tractable model systems in which to investigate causal mechanisms. Recent advances in genetics, molecular and systems biology and neuroscience now mean that there are unparalleled opportunities to test causal hypotheses and gain fundamental insights into the nature of autism and its development

Markkina-analyysi terveysteknologia-alan yritykselle

Tämä opinnäytetyö on tehty toimeksiantona terveysteknologia-alan yritykselle, Yritys X:lle, joka keväällä 2017 lanseerasi uuden työntekijöiden työhyvinvointia edistävän tuotteen, jolla yritys tavoittelee voimakasta kasvua kotimaassa ja muualla Euroopassa. Työn tarkoituksena on tuottaa markkina-analyysi yrityksen asiakkaista sekä markkinatilanteesta kotimaan markkinoilla. Markkina-analyysin tavoitteena on luoda pohja, jolle yrityksen markkinointi-tiimin on mahdollista rakentaa markkinointisuunnitelma perustuen asiakkaiden tarpeisiin ja markkinatilanteeseen. Opinnäytetyön teoreettinen viitekehys käsittelee työhyvinvointia ja sen vaikutuksia työnantajayrityksiin sekä markkinoinnin teoriaa pohjustamaan tulevaa markkinointisuunnitelmaa. Markkinoinnin teorian perusteella luotiin sähköinen kyselylomake. Kyselyä täydennettiin haastatteluilla, jotka tehtiin kyselyyn vastanneille, jotka antoivat suostumuksen haastatteluun. Tutkimusongelmana oli oppia ymmärtämään uuden asiakasryhmän, B2B-asiakkaiden, suhtautumista henkilöstön työhyvinvointipalveluihin ja -tuotteisiin sekä kartoittaa niiden hankintaan liittyviä prosesseja. Tutkimuksen keskeisiä tuloksia olivat, että yrityksen johto on hyvin tietoinen henkilöstön hyvinvoinnin vaikutuksista yrityksen tuottavuuteen sekä työnantajaimagoon. Suurin osa kohderyhmästä pitää henkilöstön hyvinvointia erittäin tärkeänä ja kukaan vastaajista ei tee päätöksiä työhyvinvointiin liittyvien tuotteiden tai palveluiden hankinnasta yksin. Tutkimus tuotti myös tietoa siitä, mitä kanavia kohderyhmä käyttää etsiessään tietoa henkilöstön hyvinvointiin liittyvistä tuotteista tai palveluista, jota toimeksiantajayritys voi hyödyntää markkinointisuunnitelmassaan. Tulosten mukaan Yritys X:n tuotteelle on olemassa selvä kysyntä ja kohderyhmällä on ymmärrys henkilöstön hyvinvoinnin vaikutuksesta yrityksen toimintaan. Tuloksista voitiin päätellä, että olennaista toimeksiantajan markkinoinnin kannalta on tarjota asiakasyrityksille räätälöityjä tuotteita, jotka saavuttavat ne työntekijäryhmät, joita muut markkinoilla olevat tuotteet eivät ole kyenneet saavuttamaan. Viestinnässä Yritys X:n tulee huomioida, ketkä tekevät päätöksen asiakasyrityksessä ja millä tavalla päätöksentekoa voidaan edesauttaa viestinnällisin keinoin.This thesis was completed for a health tech company, later referred to as Company X, which launched a new product in the spring of 2017. Company X is looking to grow aggressively both in Finland and other parts of Europe with the new product. The purpose of this thesis is to produce a market analysis that describes the market and the customers on the domestic market. The goal of the market analysis is to produce knowledge about the market that Company X can use to create a marketing plan based on customer needs and the market situation. The theoretical section of the thesis describes wellbeing at work and its effects on companies as well as marketing theory that forms the theoretical basis for the marketing plan that will be created based on this market analysis. Based on the marketing theory an electronic survey was created for the target group. Interviews were conducted with those survey respondents that gave their consent to be interviewed in order to gain deeper knowledge of the subject. The focus of the empirical research was to gain an understanding of the attitudes of the new customer segment and B2B clients towards the products and services for employee wellbeing, as well as the processes linked to purchasing such products and services. The research found that the company management is well aware of the effects of staff wellbeing on the productivity of the company as well as the company’s image as an employer. A great part of the respondents consider the wellbeing of employees very important and none of the respondents make purchasing decisions alone. The research also produced information on what channels the company management uses to find information on products and services for employee well-being, which Company X can use directly in their marketing plan. The results also highlighted the target group’s need for customised solutions. In conclusion, the research found a clear demand for Company X’s product and that the target group has an understanding of the effects of employee wellbeing on the company. The results show that it is essential for the company to offer its clients customised products and services that reach those employee groups that other products on the market fail to reach. When planning marketing and communications Company X needs to consider who makes the purchasing decisions in the client organisation and how the decision-making process can be made more effortless for the client with the help of marketing and communications

Standardioperointiproseduurien kehittäminen

Tämän opinnäytetyön tarkoituksena oli selvittää RFID-tekniikan hyödyntämismahdollisuuksia Neste Oilin Porvoon jalostamolla. Työn lähtökohtana oli kehittää aukoton toimintamalli, joka korvaisi ja täydentäisi muun muassa nykyisiä sokeointiin ja laitteiden ohjattuun käynnistykseen liittyviä toimintatapoja. Työn kantavana ideana toimivat Porvoon jalostamon voimalaitoksella käytettävän viivakooditekniikkaan pohjautuvan pda-laitteen hyvät käyttökokemukset. Koska voimalaitoksen ja jalostamon operointiolosuhteet eroavat toisistaan hyvin paljon, niin tarvittiin vaihtoehto viivakoodille. Työssä käsitellään RFID-tekniikkaa, jonka lisäksi tehdään katsaus Neste Oil Porvoon jalostamon tuotannon henkilömääriin ja -jakaumiin sekä tarkastellaan eri prosessilaitteiden määriä. Näiden tarkoituksena on havainnollistaa Porvoon jalostamon mittasuhteita. Opinnäytetyössä esitellään jalostamon nykyinen sokeointikäytäntö, voimalaitoksen viivakooditekniikkaan pohjautuva toimintamalli sekä BP:n RFID-sovellukset. Työn pääosassa esitellään kehitetyt työkokonaisuudet, joissa hyödynnetään RFID-tekniikalla toimivaa pda-laitetta. Työkokonaisuuksien laadinta aloitettiin työn suorituksen selvittämisellä, minkä jälkeen työkokonaisuuden geneerinen malli muokattiin huomioiden jokaisen työkokonaisuuden erityispiirteet. Työkokonaisuuden geneerinen malli muodostuu työtehtävistä, jotka jakautuvat työvaiheisiin. Työssä kehitettiin RFID-tekniikkaa hyödyntävät työkokonaisuudet sokeointiin, sokeoinnin poistoon, lukittujen venttiilien operointiin ja laitteiden ohjattuun käynnistykseen. Työn tarkoituksena oli kartoittaa RFID-sovelluksen käyttömahdollisuuksia erilaisissa jalostamotehtävissä, joiden suorittaminen edellyttää raportointia ja tiettyä toimintajärjestystä. Työssä kehitetyt työnkuvaukset kuvaavat ideaalitilanteita, joten ne eivät ole välttämättä suoraan sovellettavissa käytännössä. Opinnäytetyötä varten haastateltiin useita henkilöitä, jotta laitteen käyttöön liittyvät haasteet ja rajoitteet osattaisiin ottaa huomioon jo suunnitteluvaiheessa. Tämä edesauttaa laitteen hyödyntämistä vaativissakin olosuhteissa.The purpose of this thesis was to collect information about application opportunities of RFID technology at Neste Oil Porvoo oil refinery. The aim of the work was to develop watertight procedure which would replace current procedures in isolation and controlled equipment start-up. There have been some problems with blinds which have not removed before unit start-up. Significant economical losses have materialized due to these faults. Standard operating procedures are exploited in the power plant with Personal Digital Assistant (PDA) utilizing bar code technology. PDA assisted operation is used in controlled equipment start-up and in equipment condition monitoring. Prior PDA technology similar problems were experienced in the power plant as in the refinery. Taking into account oil refinery conditions RFID technology is a more sustainable solution than bar code technology. This thesis teaches the basics of RFID technology and a brief information package of Porvoo oil refinery. In addition, there are descriptions of different procedures like Neste Oil current isolation in practice, power plant bar code technology and BP oil refinery RFID applications. Standard operating procedures for isolation, control of locked valves and controlled equipment start-up were developed in this work. These standard operating procedures consist of tasks that are divided into activities that must be performed in specific order. This system is based on the use of Personal Digital Assistant utilizing RFID technology. The target of the system is to eliminate all human errors and misunderstandings which could cause problems in unit start-ups. Several process operators were interviewed in order to test the developed procedures. It should be noted that the presented procedures represent ideal procedures which may not be practical to be implemented as such