Autism spectrum disorders:an epidemiological and clinical study

Abstract Background: Autism spectrum disorders (ASDs), defined as pervasive developmental disorders (PDDs) in DSM-IV and ICD-10, become manifest in childhood, ranging from a severe form, autism, to milder forms, Asperger syndrome (AS) and pervasive developmental disorder not otherwise specified (PDD-NOS)/atypical autism. AS is also specified in criteria by Gillberg and by Szatmari et al. Different diagnostic criteria sets, overlaps, inaccuracies and exclusion criteria of many comorbid psychiatric disorders in PDDs have caused confusion. In DSM-5, PDDs were replaced by one diagnosis called ASD. Aims and methods: This is an epidemiological study of 8-year-old children and a clinical study of 9- to 16-year-old high-functioning outpatients with AS/autism (HFA). The epidemiological target population (n = 4,422) was rated via the Autism Spectrum Screening Questionnaire (ASSQ) by parents and/or teachers and a screened sample was examined in order to estimate the prevalence of ASDs, to discover deficits in the diagnostic criteria of ASDs, to evaluate DSM-5 draft criteria for ASD, and to assess cut-off scores for the Finnish ASSQ. Comorbid psychiatric disorders were identified and overall level of functioning rated in 50 subjects with AS/HFA. Results: The prevalence of AS according to DSM-IV was 2.5, to ICD-10 2.9, to Gillberg 2.7, and to Szatmari et al. 1.6 per 1,000. The prevalence of autism was 4.1 and that of ASDs 8.4 per 1,000 (DSM-IV). DSM-5 draft criteria were less sensitive in detecting AS/HFA. For 7- to 12-year-old children (IQ ≥ 50), the optimal cut-off scores were 30 in clinical settings and 28 in total population screening using summed parent-rated and teacher-rated ASSQ scores. Comorbid psychiatric disorders were common (prevalence 74%) and often multiple; behavioral disorders in 44%, anxiety disorders in 42%, and tic disorders in 26%. Oppositional defiant disorder, depressive disorder and anxiety disorders as comorbidities indicated significantly lower levels of functioning. Conclusions: Our results indicate the need to standardize the diagnostic criteria. The ICD-11 criteria should be uniform and harmonize with DSM-5. Determining cut-off scores for ASD screening instruments in different languages and cultures is of utmost importance. Clinicians are reminded to investigate psychiatric comorbidity in ASDs in order to target treatment and rehabilitation precisely.Tiivistelmä Lähtökohdat: Autismikirjon häiriöt, ICD-10:ssä ja DSM-IV:ssä nimellä laaja-alaiset kehityshäiriöt, ilmenevät lapsuudessa. Niihin luetaan autismi, Aspergerin oireyhtymä (AS) ja tarkemmin määrittelemätön laaja-alainen kehityshäiriö/epätyypillinen autismi. Gillberg sekä Szatmari työtovereineen ovat myös määritelleet AS:n kriteerit. Useat diagnostiset kriteerit, päällekkäisyydet, epätarkkuudet ja monien psykiatristen liitännäishäiriöiden poissulkeminen laaja-alaisissa kehityshäiriöissä ovat aiheuttaneet sekaannuksia. DSM-5:ssä laaja-alaiset kehityshäiriöt korvattiin yhdellä diagnoosilla: autismikirjon häiriö. Menelmät ja tavoitteet: Väitöstyö muodostui 8-vuotiaita lapsia koskeneesta epidemiologisesta tutkimuksesta sekä 9–16-vuotiaita AS- ja autistisia (HFA) lapsia ja nuoria koskeneesta kliinisestä tutkimuksesta. Vanhemmat ja/tai opettajat täyttivät epidemiologisen kohderyhmän lapsista (n = 4 422) suomennetun autismikirjon seulontalomakkeen (ASSQ), ja seuloutuneille tehtiin diagnostiset tutkimukset. Tämän jälkeen määritettiin autismikirjon esiintyvyys, kartoitettiin diagnostisten kriteerien puutteita, arvioitiin DSM-5-luonnoskriteerit autismikirjon häiriölle ja määritettiin ASSQ:n seulontarajat. Psykiatrinen komorbiditeetti ja sen merkitys toiminnalliseen tasoon tutkittiin AS-/HFA-lapsilla ja -nuorilla (n = 50). Tulokset: AS:n esiintyvyys oli 2,5/1000 DSM-IV:n, 2,9/1000 ICD-10:n, 2,7/1000 Gillbergin ja 1,6/1000 Szatmarin mukaan. Autismin esiintyvyys oli 4,1/1000 ja koko autismikirjon 8,4/1000 (DSM-IV). DSM-5-luonnoskriteerit olivat epäherkät tunnistamaan AS:ää ja HFA:ta. Parhaiten soveltuviksi ASSQ:n seulontarajoiksi alakouluikäisille (ÄO ≥ 50) osoittautuivat 30 kliinisiä tilanteita ja 28 väestöseulontoja varten laskemalla yhteen vanhempien arvioinnin ja opettajan arvioinnin pisteet. Psykiatrisia liitännäishäiriöitä oli 74 %:lla, ja monilla oli useita. Käytöshäiriöitä oli 44 %:lla, ahdistuneisuushäiriöitä 42 %:lla ja tic-häiriöitä 26 %:lla. Uhmakkuus- ja masennushäiriö sekä ahdistuneisuushäiriöt alensivat merkitsevästi toiminnallista tasoa. Päätelmät: Tulokset osoittivat diagnostisten kriteereiden yhtenäistämistarpeen. ICD-11:een on syytä laatia yhdenmukaiset kriteerit DSM-5:n kanssa. Autismikirjon seulontalomakkeille on tarpeen määrittää eri kieliin ja kulttuureihin soveltuvat pisterajat. Psykiatrisen komorbiditeetin selvittäminen autismikirjon häiriöissä on tärkeää, jotta hoito ja kuntoutus voidaan kohdentaa oikein

Miten autismikirjon henkilöt ja verrokit kuvailevat ja esittävät toisen henkilön ajatuksia?

Abstrakti Tarkastelemme referointikeinoja, joita aikuiset autismikirjon henkilöt ja verrokit käyttävät puhuessaan toisen henkilön ajatuksista. Aineisto on kerätty tutkimustilanteessa, jossa tutkittavia pyydetään kertomaan, mitä videolla nähty henkilö voisi ajatella. Tässä tutkimuksessa referointikeinot on luokiteltu kuvaileviksi ja esittäviksi sen mukaan, pysyykö vuoron näkökulma eli deonttinen origo meneillään olevassa puhetilanteessa vai siirtyykö se referoitavaan puhetilanteeseen. Tutkimus osoittaa, että autismikirjon henkilöiden ja verrokkien referointikeinot ovat pääosin samankaltaisia, joskin verrokkiryhmän edustajien vastauksissa on hieman enemmän kuvailua ja autismikirjon henkilöillä esitystä. Kaksi tutkittavaa autismikirjon henkilöä käyttää myös ns. paljaita esityksiä, jotka eivät sisällä lainkaan sellaisia deonttisia markkereita, jotka sitoisivat sanotun meneillä olevaan puhetilanteeseen. Tällainen referointi on suomenkielisessä puheessa melko harvinaista, ja katsomme sen mahdollisesti kuvastavan yksittäisten autismikirjon henkilöiden erilaista tapaa hahmottaa tai käsitellä puhetilanteen osallistumiskehikkoa.Abstract This paper examines participants’ responses to questions regarding the thoughts of another person. The data is drawn from semi-structured interviews with 56 young adults, 26 of whom have been diagnosed with autism spectrum disorder. The interviews are in Finnish. The focus of this study is on linguistic means used by the participants in a task in which they are asked to watch a video clip and then tell what one of the characters is thinking. A common type of response to the latter question is an assertion, such as noo (.) se oli selvästi kiinnostunu siitä (2.0) kurssista ja (.) siitä mitä siellä tehdään ja ’well, she was clearly interested in the course and what it’s all about and’, which names the thought (e.g., kiinnostunu ‘interested’). The responses also include demonstrations, such as kuulostaapa tosi hauskalta kurssilta haluanpa itsekin mukaan sinne ‘That sounds like a fun course. I think I’d like to join.’ The study shows that individuals on the autism spectrum and control group members use similar linguistic means in their reported speech utterances. Most demonstrations in the data are combined with an assertion or other markers that show a deictic shift between the reported speech situation and the situation here-and-now. Two individuals on the autism spectrum, however, use a rare type of ‘bare demonstration’ which is not linguistically tied to the situation here-and-now. We pose a hypothesis that this may reflect some difficulty of individuals on the autism spectrum in processing the complex participation framework in a reported thought situation. In this part, ‘bare demonstrations’ resemble repetitive speech of children on the autism spectrum, which also reflects difficulty in intersubjective processing and interactional deictics. However, bare demonstrations are not reproductions of something the speaker has heard but, instead, a creation of the speaker’s own imagination

Autismikirjon osamäärä (AQ) autismikirjon piirteitä seulomassa:seulontalomakkeen erottelukyky nuorilla aikuisilla

Abstrakti Autismikirjon piirteet ulottuvat sosiaalisten taitojen, kommunikaation, mielikuvituksen, tarkkaavuuden siirtämisen ja yksityiskohtien huomioimisen alueille. Näillä osa-alueilla esiintyviä piirteitä voidaan seuloa autismikirjon osamäärän (engl. autism spectrum quotient, AQ) avulla. Tämän tutkimuksen tavoitteena on saada suomalaiset viitearvot AQ:lle sekä tarkastella, erotteleeko AQ-lomake suomalaisia autismikirjon nuoria aikuisia oman sukupuolen nuorista aikuisista, joilla ei ole autismikirjon diagnoosia. Lisäksi tarkastellaan ryhmien suoriutumisessa olevia eroja osioittain sekä AQ:n sisäistä yhtenäisyyttä. Tutkimukseen osallistui 52 autismikirjon nuorta aikuista (39 miestä ja 13 naista) sekä 1686 verrokkia (577 miestä ja 1109 naista). Tulokset osoittavat, että autismikirjon henkilöiden pistemäärät nousevat samaa sukupuolta olevien verrokkihenkilöiden pistemääriä korkeammalle. AQ erottelee autismikirjon miehet melko hyvin verrokkimiehistä, mutta autismikirjon naiset vain kohtalaisesti verrokkinaisista. Osioanalyysissä eniten ryhmien välisiä tilastollisesti merkitseviä eroja tuli esille sosiaalisia taitoja ja kommunikaatiota mittaavissa väittämissä.Abstract Autism spectrum quotient (AQ) in screening features of autism spectrum : discriminatory ability of screening form in young adults Features of autism spectrum include areas of social skills, communication, imagination, attention switching and attention to details. These features can be screened with Autism Spectrum Quotient (AQ). The purpose of this study is to obtain Finnish performance values for AQ and to study whether the AQ discriminates Finnish young adults on the autism spectrum from same-gender controls without autism spectrum diagnosis. In addition, differences between groups in each item and internal consistency of AQ has been studied. A total of 52 young adults on the autism spectrum (39 males and 13 females) and 1686 controls (577 males and 1109 females) took part in this study. Results show that individuals on the autism spectrum have higher scores than same-gender controls. AQ discriminates quite well males on the autism spectrum from control males but only fairly females on the autism spectrum from control females. In item analysis most statistically significant differences between groups were found in items measuring social skills and communication

Autistic adults and adults with sub-clinical autistic traits differ from non-autistic adults in social-pragmatic inferencing and narrative discourse

Abstract Since prior research has mostly focused on children, less is known about how autistic adults and adults with sub-clinical autistic traits interpret pragmatically complex social situations and the kind of narrative discourse they produce. 32 autistic young adults, 18 young adults with sub-clinical autistic traits and 34 non-autistic young adults participated this study. They were shown videos of social interactions which required complex pragmatic processing and were asked to freely narrate what they thought was occurring in each video. Their narratives were coded for aspects of social-pragmatic and narrative discourse. The results indicate that the autistic and sub-clinical groups differed from the comparison group in what they inferred as relevant video content. The narratives of the autistic group also differed from the comparison group in meaning, focus and emphasis on details. In addition, the comparison group produced more holistic narratives whereas the autistic and sub-clinical groups produced more atomistic narratives. Correlational findings indicated that perceptual reasoning has stronger associations with pragmatic inferencing in the autistic and sub-clinical groups than in the comparison group. This study suggests that autistic adults and adults with sub-clinical autistic traits differ from non-autistic adults in what they perceive to be relevant in their social world

Social-pragmatic inferencing, visual social attention and physiological reactivity to complex social scenes in autistic young adults

Abstract This study examined social-pragmatic inferencing, visual social attention and physiological reactivity to complex social scenes. Participants were autistic young adults (n = 14) and a control group of young adults (n = 14) without intellectual disability. Results indicate between-group differences in social-pragmatic inferencing, moment-level social attention and heart rate variability (HRV) reactivity. A key finding suggests associations between increased moment-level social attention to facial emotion expressions, better social-pragmatic inferencing and greater HRV suppression in autistic young adults. Supporting previous research, better social-pragmatic inferencing was found associated with less autistic traits

Non-linguistic comprehension, social inference and empathizing skills in autistic young adults, young adults with autistic traits and control young adults:group differences and interrelatedness of skills

Abstract Background: Despite increasing knowledge of social communication skills of autistic peole, the interrelatedness of different skills such as non-linguistic comprehension, social inference and empathizing skills is not much known about. A better understanding of the complex interplay between different domains of social communication helps us to develop assessment protocols for individuals with social communication difficulties. Aims: To compare the performances of autistic young adults, young adults with autistic traits identified in childhood and control young adults in social communication tasks measuring non-linguistic comprehension, social inference and empathizing skills. In addition, to examine associations between the different social communication measures. Methods & Procedures: Autistic young adults (n = 34), young adults with autistic traits (n = 19) and control young adults (n = 36) completed the extra- and paralinguistic scales of the Assessment Battery for Communication (ABaCo), the Faux Pas Recognition Test, Social–Pragmatic Questions (SoPra) and the Empathy Quotient (EQ). Outcomes & Results: Group differences were found in the performance in the ABaCo, SoPra and EQ scores. Compared with the control young adults, autistic young adults scored lower. The performance of the young adults in the autistic traits group fell in between the other two groups. There were no group differences in the Faux Pas Recognition Test. The variability within the groups was large in all measurements. In the control group, there was a significant correlation between EQ and SoPra scores and between the Faux Pas and SoPra scores. In the autistic group, a significant correlation was found between Faux Pas and SoPra scores. Also, other patterns were observed but these were not statistically significant. Conclusions & Implications: The young adults with autistic traits fell in between the control and autistic young adults, highlighting the presence of the continuum in the terms of features of social communication. The results support other current research that suggests that theory of mind and other social communication skills may not be universally or widely impaired in all autistic individuals without cognitive deficits. Although all tasks examined social communication skills, only a small number of significant correlations were found between test scores. This highlights that clinical conclusions about a person’s social communication should be based on the outcomes of different types of methods measuring different aspects of social communication. It is clear that the interrelatedness of different social communication skills needs further research. What This Paper Adds What is already known on this subject: For successful communication, the ability to infer others’ emotions, intentions and mental states is crucial. Autistic people have difficulty with many aspects of social communication. However, the associations between different aspects of social communication need to be better understood. What this paper adds to existing knowledge: The unique contribution of this study is to compare the performance of autistic people not only with that of a control group but also with people with childhood autistic traits. This provides an understanding of the interrelatedness of different social communication skills in people with varying degrees of autistic traits. This study used four assessment methods focusing on three different social communication elements (non-linguistic comprehension, social inference and empathizing skills). These elements have complex relationships to one another, some being closely overlapping, some more distally related and some reflect more complex multifactorial elements. This study shows that although groups differ from each other in most of the assessments, the performance of different groups overlapped showing that many autistic young adults can perform well in non-linguistic and social inference tasks in structured assessment contexts. What are the potential or actual clinical implications of this work? Our findings suggest that in the assessment of social communication, self-reports and clinical assessments can be used effectively together. They can complement each other, pointing out the strengths and weaknesses of a person, leading to more personalized therapeutic interventions

Attention and Working Memory in Adolescents with Autism Spectrum Disorder : A Functional MRI Study

The present study examined attention and memory load-dependent differences in the brain activation and deactivation patterns between adolescents with autism spectrum disorders (ASDs) and typically developing (TD) controls using functional magnetic resonance imaging. Attentional (0-back) and working memory (WM; 2-back) processing and load differences (0 vs. 2-back) were analysed. WM-related areas activated and default mode network deactivated normally in ASDs as a function of task load. ASDs performed the attentional 0-back task similarly to TD controls but showed increased deactivation in cerebellum and right temporal cortical areas and weaker activation in other cerebellar areas. Increasing task load resulted in multiple responses in ASDs compared to TD and in inadequate modulation of brain activity in right insula, primary somatosensory, motor and auditory cortices. The changes during attentional task may reflect compensatory mechanisms enabling normal behavioral performance. The inadequate memory load-dependent modulation of activity suggests diminished compensatory potential in ASD.Peer reviewe

Effect of topical antibiotics on duration of acute infective conjunctivitis in children:a randomized clinical trial and a systematic review and meta-analysis

Abstract Importance: Although topical antibiotics are often prescribed for treating acute infective conjunctivitis in children, their efficacy is uncertain. Objective: To assess the efficacy of topical antibiotic therapy for acute infective conjunctivitis. Design, Setting, and Participants: A randomized clinical trial was conducted in primary health care in Oulu, Finland, from October 15, 2014, to February 7, 2020. Children aged 6 months to 7 years with acute infective conjunctivitis were eligible for enrollment. The participants were followed up for 14 days. A subsequent meta-analysis included the present trial and 3 previous randomized clinical trials enrolling pediatric patients aged 1 month to 18 years with acute infective conjunctivitis. Interventions: Participants in the present randomized clinical trial were randomized to moxifloxacin eye drops, placebo eye drops, or no intervention. Main Outcomes and Measures: The primary outcome in the present randomized clinical trial was time to clinical cure (in days); in the meta-analysis, the primary outcome was the proportion of participants with conjunctival symptoms on days 3 to 6. Results: The randomized clinical trial included 88 participants (46 [52%] girls), of whom 30 were randomized to moxifloxacin eye drops (mean [SD] age, 2.8 [1.6] years), 27 to placebo eye drops (mean [SD], age 3.0 [1.3] years), and 31 to no intervention (mean [SD] age, 3.2 [1.8] years). The time to clinical cure was significantly shorter in the moxifloxacin eye drop group than in the no intervention group (3.8 vs 5.7 days; difference, −1.9 days; 95% CI, −3.7 to −0.1 days; P = .04), while in the survival analysis both moxifloxacin and placebo eye drops significantly shortened the time to clinical cure relative to no intervention. In the meta-analysis, a total of 584 children were randomized (300 to topical antibiotics and 284 to a placebo), and the use of topical antibiotics was associated with a significant reduction in the proportion of children who had symptoms of conjunctivitis on days 3 to 6 compared with placebo eye drops (odds ratio, 0.59; 95% CI, 0.39 to 0.91). Conclusions and Relevance: In this randomized clinical trial and systematic review and meta-analysis, topical antibiotics were associated with significantly shorter durations of conjunctival symptoms in children with acute infective conjunctivitis

Co-activation pattern alterations in autism spectrum disorder:a volume-wise hierarchical clustering fMRI study

Abstract Introduction: There has been a growing effort to characterize the time-varying functional connectivity of resting state (RS) fMRI brain networks (RSNs). Although voxel-wise connectivity studies have examined different sliding window lengths, nonsequential volume-wise approaches have been less common. Methods: Inspired by earlier co-activation pattern (CAP) studies, we applied hierarchical clustering (HC) to classify the image volumes of the RS-fMRI data on 28 adolescents with autism spectrum disorder (ASD) and their 27 typically developing (TD) controls. We compared the distribution of the ASD and TD groups‘ volumes in CAPs as well as their voxel-wise means. For simplification purposes, we conducted a group independent component analysis to extract 14 major RSNs. The RSNs' average z-scores enabled us to meaningfully regroup the RSNs and estimate the percentage of voxels within each RSN for which there was a significant group difference. These results were jointly interpreted to find global group-specific patterns. Results: We found similar brain state proportions in 58 CAPs (clustering interval from 2 to 30). However, in many CAPs, the voxel-wise means differed significantly within a matrix of 14 RSNs. The rest-activated default mode-positive and default mode-negative brain state properties vary considerably in both groups over time. This division was seen clearly when the volumes were partitioned into two CAPs and then further examined along the HC dendrogram of the diversifying brain CAPs. The ASD group network activations followed a more heterogeneous distribution and some networks maintained higher baselines; throughout the brain deactivation state, the ASD participants had reduced deactivation in 12/14 networks. During default mode-negative CAPs, the ASD group showed simultaneous visual network and either dorsal attention or default mode network overactivation. Conclusion: Nonsequential volume gathering into CAPs and the comparison of voxel-wise signal changes provide a complementary perspective to connectivity and an alternative to sliding window analysis