Að bera kennsl á einhverfu snemma

Aims. The objective of this thesis was to test surveillance procedures for early detection of autistic children. The specific aims were: (1) to describe the characteristics of children diagnosed with autism before and after the age of 6 years, and to identify factors that influence the age of diagnosis; (2) to study the implementation of a screening program for autism within the well-child care in primary health care centers (PHCs); (3) to validate the Modified Checklist for Autism in Toddlers, Revised with Follow-Up (M-CHAT-R/F) on a population sample of 30-month-old children; and (4) to evaluate the rate of autism in a group invited to a screening program in comparison with the rates in two groups who received usual care. Materials and methods. Study I was a cohort study. We studied all children in Iceland born 1992 to 1995 who had been diagnosed as autistic (N = 99) according to a nationwide database kept at the State Diagnostic and Counseling Center (SDCC). Children diagnosed before and after the age of 6 years were compared, and parents answered a questionnaire about their first developmental concerns. Studies II, III, and IV dealt with a prospective program on the early detection of autism. The program included a two-stage screening for autism and a course on autism for the well-child care clinicians. The population eligible for screening included all children in Iceland registered for their 30-month well-child visit at a PHC from March 1, 2016, to October 31, 2017. The capital area of Reykjavik was chosen for implementation of the screening, and cluster randomization was used with the PHCs as the units of randomization. Nine PHCs were randomly selected for the screening, while eight PHCs were assigned to control group 1. PHCs outside the capital area were not randomized and were assigned to control group 2. The well-child care clinicians completed a questionnaire on their pre- and post-course knowledge of autism, and contact persons at the PHCs answered a survey about their experience and attitudes towards the screening. Parents answered the screener during the well-child visit and participated in a follow-up interview if the child showed indications of autism. Children who screened positive were referred to the SDCC for diagnostic assessment and for early intervention provided by their local communities. The children in the entire population of the corresponding definition were followed up in the database at the SDCC, from March 1, 2016, to October 31, 2019, when they were between 54 and 79 months of age. The performance of the M-CHAT-R/F was evaluated with classical measures. The occurrence of autistic children during the follow-up was measured by cumulative incidence in the respective aforementioned groups. The comparison between the rate of autism in the invited group (asked to participate in screening) and the rates in the control groups (receiving usual care) were done with rate ratios and 95% confidence intervals (CIs). Results. Fifty-eight children (58.6%) in Study I received an autism diagnosis before age 6 and 41 children (41.4%) after age 6. Most parents (76.2%) had concerns about the development of their child prior to the third birthday. Further, in hindsight, most parents (83.3%) reported that symptoms of autism were present before age 2 years, and almost all parents (97.6%) that they were present before age 3 years. A delayed diagnosis of autism was associated, among other things, with good cognitive and verbal status, and mild symptoms. The majority (79%) of the clinicians who participated in the course (N = 56) had not received prior education on autism. Participation in the course contributed to increased self-perceived knowledge and confidence in identifying behaviors indicating autism. A total of 1586 children in the invited group participated in the screening, or 72% of those who attended the 30-month-old well-child visit. Twenty-six children screened positive and 25 of them received diagnostic assessment, eighteen of whom were diagnosed as autistic (true-positive). An additional 11 children received an autism diagnosis in the screened group (false-negative). The sensitivity and specificity of the M-CHAT-R/F were 0.62 and 0.99 respectively. True-positive children were diagnosed 10 months earlier than false-negative children. Autism symptom severity and the proportion of children with verbal and performance IQs/DQs <70 were similar in the true-positive and false-negative groups. The mean time from screening in the PHC to intervention of screen-positive children was 3.56 months (SD = 4.00), and 18.28 months (SD = 2.72) to diagnostic assessment. A total of 119 children in the study population were diagnosed as autistic during the follow-up period. The overall cumulative incidence was 1.66 (95% CI, 1.37, 1.99), and the male to female ratio was 4.7:1. In the invited group, control group 1, and control group 2, the cumulative incidence rate was 2.13 (95% CI, 1.60, 2.78), 1.83 (95% CI, 1.31, 2.50), and 1.02 (95% CI, 0.66, 1.50), respectively. The rate ratio of invited group versus control group 1 was 1.16 (95% CI, 0.77, 1.75), and the rate ratio of invited group versus control group 2 was 2.10 (95% CI, 1.31, 3.37). Conclusions. Despite parental concerns about their child’s development and the early presence of autism symptoms, children still encountered delays in being diagnosed as autistic, which indicated that better efforts to detect autism early were needed. Implementation of the screening with the M-CHAT-R/F in well-child care was feasible. The screening contributed to an earlier detection of autistic children. The specificity of the M-CHAT-R/F was high, but the sensitivity was moderate, such that the M-CHAT-R/F missed more than a third of the autistic children. Limited knowledge of autism among some of the well-child care clinicians indicates a need for continuous education. While the rate of autism was higher in the invited group than in the control groups, interpreting the results is difficult because of the wide confidence intervals. So, one cannot firmly conclude from this study that the screening program detected autism more readily than did the usual care. Moreover, the lower rate of autism in the rural areas than in the urban areas may indicate a shortage of developmental services in rural areas.Markmið Markmið þessa doktorsverkefnis var að rannsaka hvernig hægt er að finna einhverfu snemma. Sértæk markmið voru: (1) að lýsa auðkennum barna sem greinast einhverf fyrir og eftir 6 ára aldur og að finna þá þætti sem gætu haft áhrif á hvenær þau greinast; (2) að rannsaka innleiðingu skimunar fyrir einhverfu í ung- og smábarnavernd í heilsugæslunni; (3) að meta gildi skimunartækisins Gátlisti fyrir einhverfu hjá smábörnum, breyttur og endurskoðaður með eftirfylgdarviðtali (e. Modified Checklist for Autism in Toddlers, Revised with Follow-Up; M-CHAT-R/F) í lýðgrunduðu úrtaki 30 mánaða barna; (4) að rannsaka tíðni einhverfu í hópi sem boðin var þátttaka í skimun í samanburði við tíðni einhverfu í tveimur hópum sem ekki var boðin skimun. Efni og aðferðir Í grein I er fjallað um ferlirannsókn. Öll börn á Íslandi fædd á árunum 1992-1995, sem höfðu fengið einhverfugreiningu (N = 99) og voru á skrá hjá Greiningar- og ráðgjafarstöð ríkisins (GRR), voru þar til rannsóknar. Börn sem greindust fyrir og eftir 6 ára aldur voru borin saman og foreldrar svöruðu spurningum tengdum því hvenær þeir fóru fyrst að hafa áhyggjur af þroska barna sinna. Greinar II, III og IV eru um framsýnar rannsóknir á snemmgreiningu einhverfu. Skimunin fyrir einhverfu var tveggja þrepa og heilbrigðisstarfsfólk í ung- og smábarnavernd var frætt um einhverfu. Það kom til greina að skima öll börn á Íslandi, sem voru skráð í 30 mánaða skoðun á heilsugæslustöðvum landsins frá 1. mars 2016 til 31. október 2017, en höfuðborgarsvæðið var valið sérstaklega. Slembun var gerð þar sem heilsugæslustöðvarnar voru einingar slembunarinnar. Níu heilsugæslustöðvar voru slembivaldar til þátttöku í skimuninni og átta heilsugæslustöðvum var skipað í samanburðarhóp 1. Heilsugæslustöðvar utan höfuðborgarsvæðisins voru ekki með í slembuninni og var skipað í samanburðarhóp 2. Heilbrigðisstarfsfólk í ung- og smábarnavernd svaraði spurningalista um þekkingu sína á einhverfu fyrir og eftir námskeiðið sem haldið var fyrir það og tengiliðir á heilsugæslustöðvunum svöruðu könnun um reynslu sína og viðhorf til skimunar. Samkvæmt upplýstu samþykki svöruðu foreldrar M-CHAT-R/F skimunarlistanum þegar þeir komu með barnið í skoðun og tóku þátt í eftirfylgdartviðtali ef vísbendingar komu fram um einhverfu hjá barninu. Börnum sem skimuðust jákvæð var vísað í greiningu hjá GRR og til þjálfunar/sérkennslu á vegum skólaþjónustu síns sveitarfélags. Hefðbundnar aðferðir voru notaðar til þess að meta M-CHAT-R/F. iv Öllum börnum, sem skráð voru í 30 mánaða skoðun var fylgt eftir í skrá GRR frá 1. mars 2016 til 31. október 2019, en þá voru þau á aldrinum 54 til 79 mánaða. Nýgengi einhverfutilfella var reiknað fyrir hvern fyrrnefndan hóp. Nýgengi einhverfu í hópnum, sem boðin var skimun, var borin saman við nýgengi í samanburðarhópunum og reiknað áhættuhlutfall með 95% öryggismörkum. Niðurstöður Fimmtíu og átta börn (58,6%) greindust einhverf fyrir 6 ára aldur og 41 barn (41,4%) eftir 6 ára aldur. Flestir foreldrar (76,2%) voru farnir að hafa áhyggjur af þroska barnsins fyrir 3 ára aldur þess. Einnig töldu flestir foreldrar (83,3%), eftir á að hyggja, að einkenni einhverfu hefðu verið komin fram fyrir 2 ára aldur og næstum allir foreldrar (97,6%) töldu að svo hefði verið fyrir 3 ára aldur. Síðbúin greining einhverfu tengdist meðal annars góðum vitsmuna- og málþroska og vægum einkennum einhverfu. Meirihluti heilbrigðisstarfsfólks (79%) sem tók þátt í námskeiðinu (N = 56) hafði ekki fengið fræðslu um einhverfu áður. Þátttaka í námskeiðinu stuðlaði að þeirra mati að aukinni þekkingu og meira öryggi til að bera kennsl á einkenni sem gætu bent til einhverfu. Samtals tóku 1586 börn í þátt í skimuninni í heilsugæslunni, eða 72% þeirra barna sem komu í 30 mánaða skoðun. Tuttugu og sex börn skimuðust jákvæð og af þeim 25 börnum sem fóru í greiningu reyndust 18 vera einhverf. Ellefu börn til viðbótar greindust einhverf í hópnum sem skimaðist neikvæður. Næmi M-CHAT-R/F var 0,62 og sértæki var 0,99. Börn sem fundust við skimunina voru að meðaltali 10 mánuðum yngri við greiningu en börn sem skimunin missti af. Alvarleiki einkenna einhverfu og greindartala/þroskatala