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Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p< 2.8 × 10−6) enrichment of associations at the gene level, for LOC388780(20p13; uncharacterized gene), and for VEPH1(3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT= 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p= 8 × 10−13), bipolar disorder (1.53[1.44; 1.63]; p= 1 × 10−43), schizophrenia (1.36[1.28; 1.45]; p= 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p= 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p= 5 × 10−4), educational attainment (0.86[0.82; 0.91]; p= 2 × 10−7), and intelligence (0.72[0.68; 0.76]; p= 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.

We report an empirical comparison of the effectiveness of two theoretically motivated computer‐assisted reading interventions (CARI) based on the Finnish GraphoGame CARI: English GraphoGame Rime (GGRime) and English GraphoGame Phoneme (GGPhoneme). Participants were 6–7‐year‐old students who had been identified by their teachers as being relatively poor at reading. The students were divided into three groups. Two of the groups played one of the games as a supplement to normal classroom literacy instruction for five sessions per week for a period of 12 weeks. The third group formed an untreated control. Both games led to gains in reading, spelling, and phonological skills in comparison with the untreated control group. The two interventions also had some differential effects. The intervention gains were maintained at a four‐month follow‐up. 作者报告一项有关两个干预教学法成效比较的验证研究,该两个干预教学法均是以理论驱动的计算机辅助阅读教学法,并建基于芬兰「计算机辅助阅读干预教学图像游戏」发展而成;该两个干预教学法是「英语韵脚图像游戏」和「英语音素图像游戏」。研究对象都是被教师确认为阅读能力较差的6至7岁的学生。这些学生被分成三组。两组分别使用其中一个游戏,为期 12周, 每周5课节,作为补充正常课堂读写教学的干预教学。第三组是没有实验处理的对照组。使用游戏的两组,较没有使用游戏的对照组,能在阅读、拼写和语音技能的成绩方面均有所提升。两个干预教学各有一些不同的影响。干预教学所提升的成绩,能在四个月的跟进期间得到维持。 Les informamos sobre una comparación empírica de la eficiencia de dos intervenciones de lectura de motivación teórica asistida por una computadora (CARIpor sus siglas en inglés) basada en el CARIGraphoGame sueco: GraphoGame Rime inglés (GGRime) y GraphoGamePhoneme inglés (GGPhoneme). Los participantes eran estudiantes entre los 6 y 7 años de edad quienes habían sido identificados por sus maestros como relativamente pobres lectores. Se formaron tres grupos de estudiantes. Dos de los grupos jugaron uno de los juegos como algo adicional a la instrucción usual de alfabetización en la clase cinco veces a la semana por 12 semanas. El tercer grupo no participó en los juegos, siendo el grupo de control. Ambos juegos incrementaron las habilidades de lectura y ortografía, y las destrezas fonológicas en comparación al grupo de control. Las dos intervenciones también tuvieron algunos efectos diferenciales. A los cuatro meses de la intervención todavía se mantenían las ganancias obtenidas debido a la intervención. Aвтopыпpoвoдятэмпиpичecкoecpaвнeниeэффeктивнocтидвyxтeopeтичecкиoбocнoвaнныx, кoмпьютepизиpoвaнныxмeтoдoвoбyчeниячтeнию, ocнoвaнныxнaвapиaцияxизвecтнoйфинcкoйгpaфичecкoйигpы CARI: гpaфo‐игpa c aнглийcкимиpифмaми (GGRime) и гpaфo‐игpa c aнглийcкимифoнeмaми (GGPhoneme). B экcпepимeнтeyчacтвoвaли 6‐7‐лeтниe дeти, кoтopыxyчитeляпpизнaличитaющимиxyжecвepcтникoв.Учeникoвpaздeлилинaтpигpyппы.Двeгpyппы – в дoпoлнeниe к тpaдициoннoмyoбyчeниючтeнию – игpaлинaypoкax в oднyизигpпятьpaз в нeдeлю в тeчeниe 12 нeдeль.Tpeтья (кoнтpoльнaя) гpyппaнeпoдвepгaлacьдoпoлнитeльнoмyвмeшaтeльcтвy.Пocpaвнeниюкoнтpoльнoйгpyппoйocтaльныeyчeникизaмeтнoyлyчшилинaвыкичтeния, пpaвoпиcaния и звyкopaзличeния.Haблюдaлиcьoпpeдeлeнныeoтличия и мeждypeзyльтaтaмидвyxэкcпepимeнтaльныxгpyпп.Дoпoлнитeльнaяпpoвepкaчepeзчeтыpeмecяцaпoдтвepдилaycтoйчивocтьoбpeтeнныxдeтьминaвыкoв. Nous rendons compte de la comparaison empirique de deux interventions en lecture motivées théoriquement et assistées par ordinateur (CARI) basées sur le Grapho‐Game finlandais CARI: le GraphoGame Rime (GGRime) en anglais et le GraphoGamePhoneme (GGPhoneme) en anglais. Les participants sont des élèves de 6‐7 ans identifiés par leur professeur comme étant relativement peu avancés en lecture. Les élèves ont été répartis en trois groupes. Deux d'entre eux ont joué à l'un des jeux, en plus de l'enseignement de la littératie effectué normalement dans la classe à raison de cinq séances par semaine pendant une durée de douze semaines. Le troisième groupe constituait un groupe contrôle non‐soumis à un traitement. Les deux jeux ont permis des progrès en lecture, en écriture et en compétences phonologiques par comparaison avec le groupe contrôle sans traitement. Les deux interventions ont présenté également des effets différentiels. Les bénéfices des interventions étaient maintenus lors d'un suivi quatre mois plus tard. نقدّم معطيات عن مقارنة تجريبية لفعالية تدخلَيْ القراءة ذات الدافع النظري بمساعدة حاسوبية وهي مبنية على اللعبة الخطية الفنلندية واللعبة الخطية الإنجليزية للمقطع النهائي (جي جي رايم) واللعبة الخطية الصوتية (جي جي فونيم). وكان المشاركون طلاب تتراوح أعمارهم بين 6‐7 سنوات قد تعينوا من قبل معلميهم كقراء يواجهون صعوبة في القراءة. إذ انقسم الطلاب إلى ثلاثة أقسام. وقد لعب قسمان لعبةً من الألعاب تكميلةً لتعليمهم المعرفي العادي في الصف خمس جلسات بالأسبوع لمدة 12 أسبوعاً. أما القسم الثالث فأنهم تشكلوا مجموعة ضابطة غير معالجة. لقد أدت اللعبتان إلى تحسنات في القراءة والهجاء والمهارات الصوتية بالمقارنة إلى المجموعة الضابطة غير المعالجة. وقد كان للتدخلين بعض التأثيرات المتفرقة. إذ بقيت التحسنات التدخلية على نفس الوتيرة في الجلسة المتابعة التي أقيمت بعد أربعة أشهر.

Sublexical Effects on Eye Movements During Repeated Reading of Words and Pseudowords in FinnishThe role of different orthographic units (letters, syllables, words) in reading of orthographically transparent Finnish language was studied by independently manipulating the number of letters (NoL) and syllables (NoS) in words and pseudowords and by recording eye movements during repeated reading aloud of these items. Fluent adult readers showed evidence for using larger orthographic units in (pseudo)word recoding, whereas dysfluent children seem to be stuck in a letter-based decoding strategy, as lexicality and item repetition decreased the NoL effect only among adult readers. The NoS manipulation produced weak repetition effects in both groups. However, dysfluent children showed evidence for word-specific knowledge by making fewer fixations on words than pseudowords; moreover, repetition effects were more noticeable for words than pseudowords, as indexed by shortened average fixation durations on words due to item repetition. The number of fixations was generally reduced by repetition among dysfluent children, suggesting familiarity-based benefits perhaps at the perceptual level of processing.

The role played by an auditory-processing deficit in dyslexia has been debated for several decades. In a longitudinal study using brain event-related potentials (ERPs) we investigated 1) whether dyslexic children with familial risk background would show atypical pitch processing from birth and 2) how these newborn ERPs later relate to these same children’s pre-reading cognitive skills and literacy outcomes. Auditory ERPs were measured at birth for tones varying in pitch and presented in an oddball paradigm (1100Hz, 12%, and 1000Hz, 88%). The brain responses of the typically reading control group children (TRC group, N=25) showed clear differentiation between the frequencies, while those of the group of reading disability with familial risk (RDFR, 8 children) and the group of typical readers with familial risk (TRFR, 14 children) did not differentiate between the tones. The ERPs of the latter two groups differed from those of the TRC group. However, the two risk groups also showed a differential hemispheric ERP pattern. Furthermore, newborn ERPs reflecting passive change detection were associated with phonological skills and letter knowledge prior to school age and with phoneme duration perception, reading speed (RS) and spelling accuracy in the 2nd grade of school. The early obligatory response was associated with more general pre-school language skills, as well as with RS and reading accuracy (RA). Results suggest that a proportion of dyslexic readers with familial risk background are affected by atypical auditory processing. This is already present at birth and also relates to pre-reading phonological processing and speech perception. These early differences in auditory processing could later affect phonological representations and reading development. However, atypical auditory processing is unlikely to suffice as a sole explanation for dyslexia but rather as one risk factor, dependent on the genetic profile of the child.

The validity of early predictive measures of delayed reading acquisition is summarized on the basis of the Jyväskylä Longitudinal study of Dyslexia (JLD). These results show that children in need of support can be identified years before school age. After a brief review of the literature on computer-based interventions, pilot data is reported on the effects of our computer game ‘Literate’ that has been specially developed for preventive training with children who are at risk of failing to acquire reading skill at a normal rate.

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We report associations between brain event-related potentials (ERPs) measured from newborns with and without familial risk for dyslexia and these same children's later language and verbal memory skills at 2.5, 3.5, and 5 years of age. ERPs to synthetic consonant-vowel syllables (/ba/, /da/, /ga/; presented equiprobably with 3,910-7,285 msec interstimulus intervals) were recorded from 26 newborns at risk for familial dyslexia and 23 control infants participating in the Jyväskylä Longitudinal Study of Dyslexia. The correlation and regression analyses showed that the at-risk type of response pattern at birth (a slower shift in polarity from positivity to negativity in responses to /ga/ at 540-630 msec) in the right hemisphere was related to significantly poorer receptive language skills across both groups at the age of 2.5 years. The similar ERP pattern in the left hemisphere was associated with poorer verbal memory skills at the age of 5 years. These results demonstrate that ERPs of newborns may be valid predictors of later language and neurocognitive outcomes.

Blindfold chess is played without the players seeing either the pieces or the board. It is a skill-related activity, and only very skilled players can construct the mental images required. This is why blindfold chess provides a good task with which to investigate the spatial memory and skilled mental images of expert players. In a PET investigation, we compared memory performance and problem solving in very experienced chess players with their performance in an attention task, in which the subjects classified the names of chess pieces. The memory task predominantly activated the temporal areas, whereas problem solving activated several frontal areas. The relevance of these findings to concepts such as general imagery, skilled imagery, apperception, and long-term working memory are discussed.

Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at‐risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at‐risk and control groups was similar. However, motor development showed a different pattern in these groups. Cluster analyses revealed three clusters in the control group: ‘fast motor development’, ‘slow fine motor development’, and ‘slow gross motor development’. In the at‐risk group, only two clusters were found: 'slow motor development’ and ‘fast motor development’. A significant difference (p=0.03) was found between the clusters in the MacArthur Communicative Development Inventories. Children with familial risk for dyslexia and slow motor development had a smaller vocabulary and produced shorter sentences than the all other children. Associations between motor and language difficulties are discussed.

AbstractA total of 1,836 cry signals from 172 healthy babies, 1–7 days old, were analysed with sound spectrography. The mean values for the 8–15 cries from each infant were calculated and used for the statistical analyses. The mean duration of the cry signals was 1.4 ± 0.6 s. The mean fundamental frequency was 496 ± 95 cps (Hz). Fifty percent of the mean fundamental frequencies in the 8–15 cries analysed from each baby varied between 450 and 520 Hz. Of the children, 93% had cries with a mean fundamental frequency below 600 Hz. The mean value of the highest point of the fundamental frequency was 583 ± 151 Hz and of the lowest point 398 ± 75 Hz. The melody type had mainly a rising-falling contour, though the difference between the highest and the lowest point was often rather small. There were no significant differences noted in the cry characteristics according to gender, the age of the infants or the gestational age when they were born.Copyright © 2002 S. Karger AG, Basel

Practice effects on a visuomotor test (the Developmental Test of Visuo-Motor Integration), a timed visual discrimination test (the Underlining Test), and two problem-solving tests (the Porteus Mazes Test and the Tower of Hanoi Test) were analyzed. Children of two age groups (Ms:7.7 and11.6 yr.) were chosen to study the effect of age on practice effects. The tests were repeated nine times with test-retest intervals of 2 mo. The Developmental Test of Visuo-Motor Integration showed no practice effects, while the Porteus Mazes Test, the Underlining Test, and the Tower of Hanoi Test showed significant practice effects. Practice effects were larger for the older age group on all the tests, except the Developmental Test of Visuo-Motor Integration. The Developmental Test of Visuo-Motor Integration and the Underlining Test showed good reliability, but those of the problem-solving tasks were less satisfactory. The stability of all the tests, except the Tower of Hanoi Test, was good.

Detailed time and error analyses of the Tower of Hanoi (TOH) test was performed using four repeated assessments of eight children (ages 9-12 years), who had perceptual and problem solving deficits. The time before each move was measured. In addition to the traditionally counted time scores, new, relative time scores were computed in order to separate the planning time from the general reaction speed. New error scores were defined and sum scores of serious errors (perserative moves, illegal moves, and wrong results) and mild errors (self-corrected moves, almost performed moves, and interrupted trials) were computed. The relative planning time correlated positively with the achieved score, and negatively with the serious errors. The serious errors correlated negatively with the achieved score. The relative planning time seems to measure the quality of planning better than does the raw planning time, and it is a recommended score for TOH analysis. The value of new error scores requires additional research.

The purpose of this research was to analyze the effects of repeating an executive function test. Three versions of the Tower of Hanoi (TOH) test were repeated three times each, with test-retest intervals of 2 months. Two groups of children participated in the research (7.7 and 11.6 years, n = 22 and n = 28). Repeating the assessment improved the performance and decreased the total performance time in both of the groups. The older participants improved their performance faster than the younger ones. The reliability of all the scores, besides the error scores, seemed to be satisfactory after the first few assessments. The stability of the scores was maintained through all the assessments. The planning time did not explain the variations of the achieved score. The reasons for the initially low reliabilities are discussed, and modifications for the test administration and scoring are suggested.

Potential use of different auditory evoked brain responses for determining cerebral lateralization of speech function was evaluated. Cortical magnetic fields elicited by plosive syllables or complex non-speech sounds analogous to them were recorded with 122-channel magnetometer. We estimated parameters of magnetic P1, N1 and P2 responses to both stimuli in the two hemispheres and found no hemispheric asymmetry for any of the responses. No correlation between the right-ear advantage, determined with dichotic listening test, and any of asymmetry indexes, calculated for the speech-elicited responses, was observed. These results suggest that P1, N1 and P2 responses to speech signals do not indicate lateralization of speech function in the brain. The results are discussed in relation to previous studies suggesting that the mismatch negativity (MMN) seems to be the only early auditory cortex response sensitive to the lateralization of speech function.

INFANTS born to families with a background of developmental dyslexia have an increased risk of becoming dyslexic. In our previous study no major group or stimulus effects in the event-related potentials (ERPs) of at-risk and control infants were found until the age of 6 months. However, in the current study, when we made the stimulus presentation rate slower, the ERPs to the short deviant /ka/ were different from those to the long standard /kaa/ stimulus already in newborns. In addition, clear group differences in the ERPs were found. The results demonstrate that infants born with a high familial risk for dyslexia process speech/auditory stimulus durations differently from control infants at birth.

WE studied auditory event-related potentials (ERP) in newborns and 6-month-old infants, about half of whom had a familial risk for dyslexia. Syllables varying in vowel duration were presented in an oddball paradigm, in which ERPs to deviating stimuli are assumed to reflect automatic change detection in the brain. The ERPs of newborns had slow positive deflections typical of their age, but significant stimulus and group effects were found only by the age of 6 months. In both groups, the responses to the deviant ka were more positive than those to the standard kaa stimuli, contrary to the findings of adult ERPs to duration changes. The results also suggested differences in brain activation pattern between the groups.

Abstract: This study concentrated on three main questions: 1) can anticipatory late negative shift (expectancy wave, E-wave) be elicited in nonmotor S1-S2 paradigm, 2) is it sensitive to variation of emotional aspects of the task and 3) is there a connection between heart rate (HR) responses and E-wave. S1 was a letter row that was replaced tachistoscopically by another letter row (S2). The task of the subjects (n=12) was to detect if the critical aspects of S2 were similar to S1. After their delayed response they received feedback of their performance. The emotional aspects of the task were varied by presenting aversive noise bursts at the end of the feedback period either always, contingently to their performance or not at all. A negative shift was present both before S2 and aversive noise (when presented). Varying the emotional aspects of the task had an effect on the amplitude of the E-wave. There was also a connection between E-wave and heart rate responses: heart rate response seemed to be a precondition for E-wave elicitation. The results support Simons’s conclusion that nonmotor E-wave reflects specifically emotional anticipation.

About 0.1 per cent children are born with the XYY syndrome. Many of these children remain undetected and live functionally normal lives. Many of them, however, may experience physical, psychological or neuropsychological impairments. In order to design a proper treatment for these children an accurate diagnosis is needed. In this article the cognitive features associated with XYY syndrome and the cognitive skills of an XYY-boy are described and discussed in relation to some therapeutic findings.

Continuity in vocalization and language development was examined in the longitudinal study of 94 children. Parents observed their infant's vocal development with the help of a checklist during the first year of life and reported their lexical development by using the MacArthur Communicative Development Inventories (the CDIs) at the ages of 14 and 18 months. The Reynell Developmental Language Scales (the RDLS) were administered to the children in a laboratory setting at 18 months. The vocalization checklist revealed milestones of sound production which parents reported reliably and which were significantly related to the child's later language development. The continuity in vocal and language development was supported by a subgroup analysis, which showed that the early vocalizers had comprehended and produced significantly more words and suffixes than had the late vocalizers during the second year. The results also provided support to the concurrent and predictive validity of the CDIs. Significant correlations were obtained between parental reports of their children's lexical development and the more structured instrument of the RDLS. The correlations were higher for word production measures than for those of word comprehension. Methodological issues concerning parental assessment of the child's vocal and lexical development will be discussed.

Event-related brain potentials of 28 newborns to pitch change were studied during quiet sleep under stimulus conditions that typically elicit mismatch negativity in adults. Rarely occurring deviant tones of 1100 Hz (probability 12%) were embedded among repeated standard tones of 1000 Hz in an oddball-sequence with an interstimulus interval of 425 ms. Two control conditions were also employed: In the first, the 1100-Hz stimulus was presented alone without the intervening standard stimuli, and in the second the deviant stimulus had a pitch of 1300 Hz. In all conditions the infrequent stimulus elicited in most newborns a slow positive deflection peaking at a latency of 250-350 ms. The response to the standard tone was very small. These results indicate passive detection of even a small pitch change based either on refractoriness to repetition or dishabituation to change, or both. Some evidence was also found for a mismatch negativity-like response overlapping with the positive response and appearing as a reduction of this positive deflection at a latency of a typical mismatch negativity.

This article addresses the relationship between attention deficit hyperactivity disorder (ADHD) and academic problems. The development of diagnostic categories of attention deficits from the Diagnostic and Statistical Manual of Mental Disorders (3rd ed.) to the Diagnostic and Statistical Manual of Mental Disorders (4th ed.) is briefly reviewed. Forty-five Chilean children demonstrating symptoms of either ADHD Combined Type, ADHD Predominantly Inattentive Type, or ADHD Predominantly Hyperactivity-Impulsive Type are compared with each other and with a clinical control group on the prevalence of academic achievement problems. The data show that academic problems are more common among ADHD Combined Type and ADHD Predominantly Inattentive Type children. Different reasons for the perceived co-occurrence are discussed.

According to previous findings (Konttinen and Lyytinen, 1992), the slow brain negativity preceding the trigger pull in rifle-shooting tends to be decreased in successful shots among experienced marksmen, whereas no such pattern is found among inexperienced subjects. This effect was interpreted as resulting mainly from optimal arousal. However, another explanation is examined here. The aim of the experiment was to investigate slow electrocortical changes associated with motor regulation and visual aiming related to shooting performance. Four variations on a shooting task were used, in which the visual and motor components were contrasted. Motor activity related to gun stabilization was found to be associated with slow-wave positivity, whereas visual aiming was manifested as slow negativity. The results offer some basis for interpreting the individual slow brain wave patterns that predict shooting performance.

WE studied the brain's reactions to deviations in the duration of a stop consonant using event-related potentials in an oddball paradigm. A naturally produced nonsense word was used as a frequent standard stimulus which differed from two infrequently presented deviant stimuli only by the duration of the silence period inside the stop, making the consonant sound longer. Evoked responses to the deviant stimuli showed sharply rising negativity after the unexpected prolongation of the silence and a later negativity, the duration of which was related to the timing of the beginning of the second part of the deviant sound. This later negativity is, at least partly, elicited by a mismatch process to the omission of a sound at the expected latency.

The article focuses on the efforts of the Finnish Air Force (FiAF) to create a deployment unit to take part in multinational air operations. Among the responsibilities of the service are airspace surveillance and maintenance of territorial integrity in the air. Changes at FiAF would include the purchase of medium tactical transport aircraft. The service will provide a unit for European crises management activities starting 2010.

The author provides information on joint national air operations of the Finnish Air Force (FiAF). He cites some of the functions of the service, such as the surveillance of airspace and implementing air defense. Also mentioned are procurement plans of FiAF, including the acquisition of 20 NH-90 helicopters. He notes that the service will offer a unit for European crises management activities from year 2010.