Audiovisual speech perception and eye gaze behavior of adults with asperger syndrome.

Audiovisual speech perception was studied in adults with Asperger syndrome (AS), by utilizing the McGurk effect, in which conflicting visual articulation alters the perception of heard speech. The AS group perceived the audiovisual stimuli differently from age, sex and IQ matched controls. When a voice saying /p/ was presented with a face articulating /k/, the controls predominantly heard /k/. Instead, the AS group heard /k/ and /t/ with almost equal frequency, but with large differences between individuals. There were no differences in gaze direction or unisensory perception between the AS and control participants that could have contributed to the audiovisual differences. We suggest an explanation in terms of weak support from the motor system for audiovisual speech perception in AS.

Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD).

About 80% of cases with autism express intellectual disability. Both in autism and in mental retardation without autism the majority of the cases are males, suggesting a X-chromosomal effect. In fact, some molecular evidence has been obtained for a common genetic background for autism spectrum disorders (ASD) and X-linked mental retardation (XLMR). In several genome-wide scans (GWS), evidence for linkage at X-chromosome has been reported including the GWS of Finnish ASD families with the highest multipoint lod score (MLS) of 2.75 obtained close to DXS7132 at Xq11.1. To further dissect the relationship between autism and genes implicated in XLMR, we have fine-mapped Xq11.1-q21.33 and analyzed five candidate genes in the region. We refined the region using 26 microsatellite markers and linkage analysis in 99 Finnish families with ASD. The most significant evidence for linkage was observed at DXS1225 on Xq21.1 with a nonparametric multipoint NPL(all) value of 3.43 (P = 0.0004). We sequenced the coding regions and splice sites of RPS6KA6 and ZNF711 residing at the peak region in 42 male patients from families contributing to the linkage. We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. A total of six novel and 11 known single nucleotide polymorphisms were identified. Further studies are warranted to analyze the candidate genes at Xq11.1-q21.33.

The specificity of post-concussive symptoms in the pediatric population.

The study compared patterns of reported symptoms between a mild head injury group and a group of children with abdominal complaints visiting an emergency department. Children (0-15 years) admitted to an emergency department during a three-month period with a history of head injury and a comparison group of children were included. Medical records at the time of injury were reviewed and follow-up questionnaires focused on presumed symptoms related to concussion at three months post-visit. The comparison group reported significantly more change in behaviour than the head injury group. However, for the older children, higher intensity of symptoms was reported by the comparison group compared to the head injury group. Initial differences in the amount and presence of symptoms between the two groups did not reflect the findings at three months; both groups reported symptoms or changes at three months after the event. Evaluating children aged under five, their symptoms and recovery patterns after a head injury is recommended.

Linkage and linkage disequilibrium scan for autism loci in an extended pedigree from Finland.

Population isolates, such as Finland, have proved beneficial in mapping rare causative genetic variants due to a limited number of founders resulting in reduced genetic heterogeneity and extensive linkage disequilibrium (LD). We have here used this special opportunity to identify rare alleles in autism by genealogically tracing 20 autism families into one extended pedigree with verified genealogical links reaching back to the 17th century. In this unique pedigree, we performed a dense microsatellite marker genome-wide scan of linkage and LD and followed initial findings with extensive fine-mapping. We identified a putative autism susceptibility locus at 19p13.3 and obtained further evidence for previously identified loci at 1q23 and 15q11-q13. Most promising candidate genes were TLE2 and TLE6 clustered at 19p13 and ATP1A2 at 1q23.

Families' perceptions of given information in relation to their child's head injury.

UNLABELLED: Information and effective communication is an essential element in treating children in hospital. Researches have shown that parents who are well informed and well prepared were less anxious, a fact that was found to decrease the child's level of stress. Studies in the head injury population reveal that not only patients but their families need support such as general information about a head injury but also individual support, independent of the severity of the head injury. AIM: To describe the families' perceptions of information provided in relation to a head injury during their visit at the emergency department at Astrid Lindgren children's hospital. DESIGN: Retrospective, descriptive study. METHOD: Postal questionnaires at 3 months posthead injury. RESULTS: There were 96 families that participated, 51 families with children <5 years and 45 families with children >5 years. Eighty-five per cent of all families understood the information concerning head injury they had been given during the visit to the emergency department. However, only 69% received the information they needed about head injury in children before discharge from the emergency department. There were significant differences between the two age groups as to whether or not the information was addressed to the child or that the information was age appropriate. The results from our study should be interpreted with caution because of the relatively low number of respondents and the fact that the study was conducted using a questionnaire. Another limitation is the fact that we asked for the information 3 months posthead injury. CONCLUSIONS: Most families do understand the information that was provided and they also generally received the information they needed. However, they had not received information about common symptoms after a head injury. Strategies to improve information to families who experience a childhood head injury therefore seem necessary.

Allelic variants in HTR3C show association with autism.

Autism spectrum disorders (ASDs) are severe neurodevelopmental disorders with a strong genetic component. Only a few predisposing genes have been identified so far. We have previously performed a genome-wide linkage screen for ASDs in Finnish families where the most significant linkage peak was identified at 3q25-27. Here, 11 positional and functionally relevant candidate genes at 3q25-27 were tested for association with autistic disorder. Genotypes of 125 single nucleotide polymorphisms (SNPs) were determined in 97 families with at least one individual affected with autistic disorder. The most significant association was observed using two non-synonymous SNPs in HTR3C, rs6766410 and rs6807362, both resulting in P = 0.0012 in family-based association analysis. In addition, the haplotype C-C corresponding to amino acids N163-A405 was overtransmitted to affected individuals (P = 0.006). Sequencing revealed no other variants in the coding region or splice sites of HTR3C. Based on the association analysis results in a previously identified linkage region, we propose that HTR3C represents a novel candidate locus for ASDs and should be tested in other populations.

Epilepsy in the northern Finland birth cohort 1966 with special reference to fertility.

The aim of the study was to evaluate both the prevalence of epilepsy and the reproductive history of subjects with epilepsy in a population-based cohort study. The Northern Finland Birth Cohort 1966 (NFBC 1966) comprises 12,058 subjects with 39 years of follow-up. Of these subjects, 222 were identified as having epilepsy on the basis of information obtained from mailed questionnaires, hospital discharge registers, and records for reimbursed antiepileptic medications. The information on reproductive outcome was also updated. Both men and women with epilepsy did not differ from the reference group with respect to number of children. However, subjects with active epilepsy during adulthood had fewer children than those who achieved remission before adulthood. Subjects with epilepsy who achieved remission before adulthood did not differ from control subjects with respect to number of children.

Impaired recognition of facial emotions from low-spatial frequencies in Asperger syndrome.

The theory of 'weak central coherence' [Happe, F., & Frith, U. (2006). The weak coherence account: Detail-focused cognitive style in autism spectrum disorders. Journal of Autism and Developmental Disorders, 36(1), 5-25] implies that persons with autism spectrum disorders (ASDs) have a perceptual bias for local but not for global stimulus features. The recognition of emotional facial expressions representing various different levels of detail has not been studied previously in ASDs. We analyzed the recognition of four basic emotional facial expressions (anger, disgust, fear and happiness) from low-spatial frequencies (overall global shapes without local features) in adults with an ASD. A group of 20 participants with Asperger syndrome (AS) was compared to a group of non-autistic age- and sex-matched controls. Emotion recognition was tested from static and dynamic facial expressions whose spatial frequency contents had been manipulated by low-pass filtering at two levels. The two groups recognized emotions similarly from non-filtered faces and from dynamic vs. static facial expressions. In contrast, the participants with AS were less accurate than controls in recognizing facial emotions from very low-spatial frequencies. The results suggest intact recognition of basic facial emotions and dynamic facial information, but impaired visual processing of global features in ASDs.

Language abilities of children with Asperger syndrome.

Current diagnostic taxonomies (ICD-10, DSM-IV) emphasize normal acquisition of language in Asperger syndrome (AS). Although many linguistic sub-skills may be fairly normal in AS there are also contradictory findings. There are only few studies examining language skills of children with AS in detail. The aim of this study was to study language performance in children with AS and their age, sex and IQ matched controls. Children with AS had significantly lower scores in the subtest of Comprehension of Instructions. Results showed that although many linguistic skills may develop normally, comprehension of language may be affected in children with AS. The results suggest that receptive language processes should be studied in detail in children with AS.

Comparison of diagnostic methods for asperger syndrome.

Several different diagnostic sets of criteria exist for Asperger syndrome (AS), but there is no agreement on a gold standard. The aim of this study was to compare four diagnostic sets of criteria for AS: the ICD-10, the DSM-IV, the Gillberg & Gillberg, and the Szatmari criteria. The series consists of 36 children who had been referred to two centers with a tentative diagnosis of AS. The best agreement was between the ICD-10 and the DSM-IV criteria (Kappa coefficient 0.48), and the lowest between the Gillberg & Gillberg and Szatmari criteria (Kappa coefficient -0.21). The poor agreement between these sets of diagnostic criteria compromises the comparability of studies on AS.

Sleep in children with Asperger syndrome.

The prevalence of sleep disturbances in 52 children with Asperger syndrome (AS) as compared with 61 healthy controls (all subjects aged 5-17 years) was investigated. Problems with sleep onset and maintenance, sleep-related fears, negative attitudes toward sleeping, and daytime somnolence were more frequent among children with AS than among controls. Short sleep duration (<9 h) was almost twofold (59% vs. 32%), and the risk for sleep onset problems more than fivefold (53% vs. 10%) more common in the AS group than in the control group. Child-reported sleeping problems were also more prevalent in the AS group than in controls (58% vs. 7%). The results suggest that sleep disturbances should be routinely evaluated in children with AS.

Informational needs in families after their child's mild head injury.

OBJECTIVE: When a child is hospitalized due to an illness or injury, the entire family may experience stress and/or anxiety. According to parents who have been in such a situation, providing adequate information is one of the most valuable ways to help the family deal with such feelings. Most mild head injuries suffered by children do not require hospitalisation and in such cases, their families should be provided with appropriate information in connection with their visit to the emergency ward. In the present study, family informational needs are characterized. METHODS: The families of 57 children who had suffered a mild head injury at 0-15 years of age answered one open-ended question. The analysis was carried out using content analysis. RESULTS: This analysis revealed two types of needs, i.e., a need for information concerning the head injury itself and how to provide care, as well as a need for reassurance and support in sharing and coping with the emotional burden. CONCLUSION: Despite differences in the severity of the child's head injury and requirement for hospitalisation, all the families expressed the same informational needs but also the need for emotional support. PRACTICE IMPLICATIONS: In connection with the treatment of children with head injuries, health-care personnel should provide the parents both with information concerning the injury and its treatment and with emotional support.

Variations in prenatal sociodemographic factors associated with intellectual disability: a study of the 20-year interval between two birth cohorts in northern Finland.

The authors followed two cohorts of children born in northern Finland in 1966 (n = 12,058) and 1985-1986 (n = 9,432) to examine whether associations between maternal sociodemographic factors assessed during pregnancy and intellectual disability in the offspring changed over a 20-year interval. Both of the cohorts were followed up to the age of 11.5 years using similar methods and definitions of intellectual disability. Data on sociodemographic factors were based on comparable questionnaires returned by the mothers during the 25th week of gestation. Despite an interval of 20 years between the cohorts, the main indicators of socioeconomic disadvantage and maternal multiparity remained as having the largest impact on the incidence of intellectual disability, while single factors such as older maternal age at delivery, being single, and living in a remote area lost their association with intellectual disability. Over 20 years, prepregnancy maternal obesity (body mass index > or =30) became a newly associated factor (adjusted odds ratio = 2.8, 95% confidence interval: 1.5, 5.3). A future challenge is to explore the mediating mechanisms between intellectual disability and its associated preventable intergenerational environmental or lifestyle factors.

No association between common variants in glyoxalase 1 and autism spectrum disorders.

The autism spectrum disorders (ASDs) are complex diseases with a strong genetic component. Numerous candidate gene studies have tested association between various functional and positional candidate genes and autism, but no common variation predisposing for autism has been identified to date. It has been previously proposed, that glyoxalase 1 (GLO1) might be involved in the pathogenesis of autism as GLO1 protein polarity was significantly changed in the brains of autism patients compared to controls. GLO1 harbors a functional polymorphism that affects the polarity and the enzymatic activity of the protein. In the same study, this polymorphism showed a suggestive association to autism. To investigate whether common variants in GLO1 predispose to autism in the Finnish population, we have genotyped six polymorphisms in GLO1 in families with more than 230 individuals affected with ASDs and carried out both linkage and association analyses. We did not observe significant linkage or association between any SNP and ASDs. Therefore, we suggest that common variants in GLO1 are not significant susceptibility factors for ASDs in the Finnish population.

Sustained favorable effects of cognitive training in children with acquired brain injuries.

The overall aim of the present study was to assess in greater detail the sustained effects of a broad-based cognitive training programme on the neuropsychological performance of children with acquired brain injury. In particular, the long term (6 months) effects on cognitive functions, as well as how various moderators (gender, age at the time of injury/diagnosis, time since injury/diagnosis, age at the training) might influence outcome were investigated. A group of 38 children, 9-16 years of age, with various types of acquired brain injury had earlier been randomly assigned into treatment and control groups. These two groups had first been assessed directly after completion of the training and were now reassessed 6 months later. The treatment group exhibited significantly more persistent improvements with respect to complex tasks of attention and memory in comparison to the control group. In contrast there were no differences on simple reaction time tests. We conclude that the long term effects on cognitive functions of this broad-based neuro-cognitive training is encouraging. These positive results should be further investigated in larger more specific diagnostic groups and in different settings.

Auditory cortical change detection in adults with Asperger syndrome.

The present study investigated whether auditory deficits reported in children with Asperger syndrome (AS) are also present in adulthood. To this end, event-related potentials (ERPs) were recorded from adults with AS for duration, pitch, and phonetic changes in vowels, and for acoustically matched non-speech stimuli. These subjects had enhanced mismatch negativity (MMN) amplitudes particularly for pitch and duration deviants, indicating enhanced sound-discrimination abilities. Furthermore, as reflected by the P3a, their involuntary orienting was enhanced for changes in non-speech sounds, but tended to be deficient for changes in speech sounds. The results are consistent with those reported earlier in children with AS, except for the duration-MMN, which was diminished in children and enhanced in adults.

Are the symptoms and severity of head injury predictive of clinical findings three months later?

AIM: To describe symptoms and functional disabilities 3 mo after a minimal, mild or moderate head injury in children, and to analyse relationships between these and initial symptoms and management documented at the time of the injury. METHODS: The sample consisted of all children (0-15 y) admitted to an emergency department during a 1-mo period with a history of head injury. Data were collected from the medical records at the time of the injury, and questionnaires about symptoms/change and functional problems 3 mo after the injury. RESULTS: Symptoms and functional problems were reported in 35% of the children 3 mo after a head injury. Documented altered consciousness (in children less than 5 y) and disorientation (in children 5 y of age or older) at the emergency department were correlated with changes in behaviour at 3 mo. The initial duration of unconsciousness was not predictive of subsequent behaviour. CONCLUSION: The difficulties in predicting outcomes in head-injured children, especially younger ones, indicate the need for a follow-up appointment in order to identify children with special needs. Further studies are needed regarding the early signs and symptoms in different age groups.

Clinical neurological abnormalities in young adults with Asperger syndrome.

Children with Asperger syndrome (AS), a neurodevelopmental disorder falling in the autism spectrum disorders, have an increased rate of neurological abnormalities, especially in motor coordination. While AS is a lifelong condition, little is known about the persistence of neurological abnormalities in adulthood. Twenty young adults with AS were compared with 10 healthy controls using a structured clinical neurological rating scale. The score for neurological abnormalities was higher in the AS group. In addition, a subscore for neurological soft signs indicating defective functioning of the central nervous system with a non-localizing value was significantly higher in the AS subjects. This preliminary study indicates that neurological abnormalities, soft signs in particular, represent a non-specific vulnerability factor for AS. Consistent with other features of AS, neurological abnormalities seem to persist into adulthood.

A prospective, population-based, follow-up study of mild traumatic brain injury in children.

OBJECTIVE: Outline the annual incidence of mild traumatic brain injury in children, aged 0-17 years, using the American Congress of Rehabilitation Medicine classification and record the presence of new symptoms up to six months after injury. SETTINGS AND METHODS: The study population comprised all the children in the age group of 0-17 years (a total of 40,984) in an administrative district in south-western Sweden. All the individuals registered in the Brain Injury Register, during the periods 1 January to 30 June 1999 and 1 April to 30 September 2000, fulfilling the inclusion criteria defined by American Congress of Rehabilitation Medicine, were included. New symptoms occurring three to six months after the injury were recorded using a mailed 21-item questionnaire. RESULTS: 192 children fulfilled the criteria, yielding an annual incidence of 468/100,000 (95% CI 402-535/100,000). Boys accounted for 57 per cent and fall injuries accounted for 61 per cent of the external causes. New symptoms were reported by 24 per cent of those who answered the questionnaire. CONCLUSION: This study revealed that the annual incidence of mild traumatic brain injury in children was almost as high as that among adults in the same area and population.