Anneli Kylliäinen

Affective-motivational brain responses to direct gaze in children with autism spectrum disorder

BACKGROUND   It is unclear why children with autism spectrum disorders (ASD) tend to be inattentive to, or even avoid eye contact. The goal of this study was to investigate affective-motivational brain responses to direct gaze in children with ASD. To this end, we combined two measurements: skin conductance responses (SCR), a robust arousal measure, and asymmetry in frontal electroencephalography (EEG) activity which is associated with motivational approach and avoidance tendencies. We also explored whether degree of eye openness and face familiarity modulated these responses. METHODS   Skin conductance responses and frontal EEG activity were recorded from 14 children with ASD and 15 typically developing children whilst they looked at familiar and unfamiliar faces with eyes shut, normally open or wide-open. Stimuli were presented in such a way that they appeared to be looming towards the children. RESULTS   In typically developing children, there were no significant differences in SCRs between the different eye conditions, whereas in the ASD group the SCRs were attenuated to faces with closed eyes and increased as a function of the degree of eye openness. In both groups, familiar faces elicited marginally greater SCRs than unfamiliar faces. In typically developing children, normally open eyes elicited greater relative left-sided frontal EEG activity (associated with motivational approach) than shut eyes and wide-open eyes. In the ASD group, there were no significant differences between the gaze conditions in frontal EEG activity. CONCLUSIONS   Collectively, the results replicate previous finding in showing atypical modulation of arousal in response to direct gaze in children with ASD but do not support the assumption that this response is associated with an avoidant motivational tendency. Instead, children with ASD may lack normative approach-related motivational response to eye contact.

Face‐ and gaze‐sensitive neural responses in children with autism: a magnetoencephalographic study

Face and gaze processing were studied using magnetoencephalography in 10 children with autism and 10 normally developing children, aged between 7 and 12 years. The children performed two tasks in which they had to discriminate whether images of faces presented sequentially in pairs were identical. The images showed four different categories of gaze: direct gaze, eyes averted (left or right) and closed eyes but there was no instruction to focus on the direction of gaze. Images of motorbikes were used as control stimuli. Faces evoked strong activity over posterior brain regions at about 100 ms in both groups of children. A response at 140 ms to faces observed over extrastriate cortices, thought to be homologous to the N170 in adults, was weak and bilateral in both groups and somewhat weaker (approaching significance) in the children with autism than in the control children. The response to motorbikes differed between the groups at 100 and 140 ms. Averted eyes evoked a strong right lateralized component at 240 ms in the normally developing children that was weak in the clinical group. By contrast, direct gaze evoked a left lateralized component at 240 ms only in children with autism. The findings suggest that face and gaze processing in children with autism follows a trajectory somewhat similar to that seen in normal development but with subtle differences. There is also a possibility that other categories of object may be processed in an unusual way. The inter‐relationships between these findings remain to be elucidated.

Use of early intervention for young children with autism spectrum disorder across Europe

Little is known about use of early interventions for autism spectrum disorder in Europe. Parents of children with autism spectrum disorder aged 7 years or younger (N = 1680) were recruited through parent organisations in 18 European countries and completed an online survey about the interventions their child received. There was considerable variation in use of interventions, and in some countries more than 20% of children received no intervention at all. The most frequently reported interventions were speech and language therapy (64%) and behavioural, developmental and relationship-based interventions (55%). In some parts of Europe, use of behavioural, developmental and relationship-based interventions was associated with higher parental educational level and time passed since diagnosis, rather than with child characteristics. These findings highlight the need to monitor use of intervention for children with autism spectrum disorder in Europe in order to contrast inequalities.

Face and gaze processing in normally developing children: a magnetoencephalographic study.

Magnetoencephalography (MEG) was used to study the neural mechanisms underlying face and gaze processing in ten normally developing boys aged between 8 and 11 years and 12 adult males. The participants performed two tasks in which they had to decide whether images presented sequentially in pairs, depicted the same person or the same motorbike. In the first task, the participants saw pictures of faces in which the eyes were either open or shut and pictures of motorbikes. In the second task, participants saw pairs of faces with gaze averted to the left or right. In children there was no evidence of the face sensitive, low amplitude short latency (30–60 ms) activity seen previously in adults. A strong, midline posterior response at approximately 100 ms was observed in children, which was earlier and somewhat stronger to faces than to motorbikes; in adults the signal at this latency was weak. A clear face sensitive response was seen in adults at 135 ms, predominantly over the right inferior occipito‐temporal regions. Although activity was observed in the children at the same latency, it was less prominent, not lateralized and was evoked similarly by faces and motorbikes. Averted gaze conditions evoked strong right‐lateralized activity at approximately 245 ms in children only. These findings indicate that even in middle childhood the neural mechanisms underlying face processing are less specialized than in adults, with greater early activation of posterior occipital cortices and less specific activation of ventral occipito‐temporal cortex.

Visual agnosia in a child with non-lesional occipito-temporal CSWS

In this paper we describe a case of severe visual agnosia in a child with an electrophysiological pattern of continuous spike-wave discharges in slow sleep (CSWS) in the occipito-temporal regions. The neuropsychological spectrum related to this phenomenon is discussed. Published paediatric reports associate visual agnosia (i.e. an inability to recognize objects without impairment of visual acuity) mainly with symptomatic occipito-temporal aetiology (e.g. cortical dysplasia, vascular insults) and other neurological symptoms (e.g. autism). We describe a detailed 2 year electrophysiological and neuropsychological follow-up of an 8-year-old boy with sporadic seizures, occipito-temporal CSWS and visual agnosia. The growth and neurological development of the child had been considered as normal, neurological examination did not reveal any focal signs, visual acuity was intact and MRI was normal. First EEG and six consecutive 24 h video EEG recordings during the follow-up of 22 months showed continuous spike-and-wave activity covering over 85% of the non-REM sleep. According to structured neuropsychological tests (Wechsler Intelligence Scale for Children--Third Edition, A Developmental Neuropsychological Assessment (NEPSY), Test of Visual-Perceptual Skills, Corsi block, Hooper Visual Organization Test) the boy had normal verbal intelligence but major deficits in visual perception, especially in object recognition, impaired shape discrimination and detection, and poor copying skills. Attention and executive functions were intact. There were no difficulties in short- or long-term memory. Verbal cues and naming the objects improved visual memory. Tracing the objects with a finger or by moving the head improved object recognition. Currently the boy attends a special school with a rehabilitation plan including neuropsychological and occupational therapies. This case adds a new facet to the spectrum of neuropsychological deficits in children with CSWS. Sleep EEG should be included in the etiological studies of children with specific neuropsychological problems and detailed neuropsychological assessment is needed for diagnostic and rehabilitation purposes.

Maternal and paternal sleep during pregnancy in the Child-sleep birth cohort

STUDY OBJECTIVES Maternal and paternal sleep insufficiency during pregnancy appears to be a risk factor for health and wellbeing in young families. Here, we evaluated the prevalence of sleep insufficiency and symptoms of insomnia during pregnancy (at 32nd pregnancy week) and their relationship to depression, anxiety and environmental stress. METHODS The study is based on a population based sample from Finland consisting of 1667 mothers and 1498 fathers from the Child-sleep birth cohort. We evaluated both the core symptoms of insomnia (sleep onset problems, nocturnal awakenings, too-early awakenings, and poor sleep quality) and the presence of insufficient sleep. Insufficient sleep was defined as a two-hour difference between self-assessed sleep need and reported sleep duration, or sleep duration shorter than six hours per night. RESULTS We found that symptoms of insomnia were more prevalent among women than among men (9.8% vs. 6.2%), whereas sleep debt was less prevalent among women than among men (4.5% vs. 9.6%). Overall, 11.8% of the women and 14.9% of the men reported either significant insomnia or short sleep. Symptoms of insomnia were related to symptoms of depression both among women and men (AOR 3.8, 95% CI 2.6-5.6 vs. AOR 1.9, 95% CI 1.1-3.2), while short sleep was related to depression among women (AOR 3.3, 95% CI 1.8-5.8), and to low education, poor health and a larger number of children among men. CONCLUSIONS The study showed that insomnia and sleep insufficiency are prevalent among women and men during pregnancy. The findings underline the impact of insomnia to both maternal and paternal health during pregnancy as well as to the implementation of effective interventions to prevent negative consequences of sleep disturbances.

Attitudes of the autism community to early autism research

Investigation into the earliest signs of autism in infants has become a significant sub-field of autism research. This work invokes specific ethical concerns such as use of ‘at-risk’ language, communicating study findings to parents and the future perspective of enrolled infants when they reach adulthood. This study aimed to ground this research field in an understanding of the perspectives of members of the autism community. Following focus groups to identify topics, an online survey was distributed to autistic adults, parents of children with autism and practitioners in health and education settings across 11 European countries. Survey respondents (n = 2317) were positively disposed towards early autism research, and there was significant overlap in their priorities for the field and preferred language to describe infant research participants. However, there were also differences including overall less favourable endorsement of early autism research by autistic adults relative to other groups and a dislike of the phrase ‘at-risk’ to describe infant participants, in all groups except healthcare practitioners. The findings overall indicate that the autism community in Europe is supportive of early autism research. Researchers should endeavour to maintain this by continuing to take community perspectives into account.

Your attention makes me smile: Direct gaze elicits affiliative facial expressions

Facial electromyographic responses and skin conductance responses were measured to investigate whether, in a neutral laboratory environment, another individuals direct gaze elicits a positive or negative affective reaction in the observer. The results showed that greater zygomatic responses associated with positive affect were elicited by seeing another person with direct as compared to averted gaze. The zygomatic responses were greater in response to another persons direct gaze both when the participants own gaze was directed towards the other and when the participant was not looking directly towards the other. Compatible with the zygomatic responses, the corrugator activity (associated with negative affect) was decreased below baseline more in response to another persons direct than averted gaze. Replicating previous research, the skin conductance responses were greater to another persons direct than averted gaze. The results provide evidence that, in a neutral context, another individuals direct gaze is an affiliative, positive signal.

Variants in calcium voltage-gated channel subunit Alpha1 C-gene (CACNA1C) are associated with sleep latency in infants

Genetic variants in CACNA1C (calcium voltage-gated channel subunit alpha1 C) are associated with bipolar disorder and schizophrenia where sleep disturbances are common. In an experimental model, Cacna1c has been found to modulate the electrophysiological architecture of sleep. There are strong genetic influences for consolidation of sleep in infancy, but only a few studies have thus far researched the genetic factors underlying the process. We hypothesized that genetic variants in CACNA1C affect the regulation of sleep in early development. Seven variants that were earlier associated (genome-wide significantly) with psychiatric disorders at CACNA1C were selected for analyses. The study sample consists of 1086 infants (520 girls and 566 boys) from the Finnish CHILD-SLEEP birth cohort (genotyped by Illumina Infinium PsychArray BeadChip). Sleep length, latency, and nightly awakenings were reported by the parents of the infants with a home-delivered questionnaire at 8 months of age. The genetic influence of CACNA1C variants on sleep in infants was examined by using PLINK software. Three of the examined CACNA1C variants, rs4765913, rs4765914, and rs2239063, were associated with sleep latency (permuted P<0.05). There was no significant association between studied variants and night awakenings or sleep duration. CACNA1C variants for psychiatric disorders were found to be associated with long sleep latency among 8-month-old infants. It remains to be clarified whether the findings refer to defective regulation of sleep, or to distractibility of sleep under external influences.

The effects of maternal risk factors during pregnancy on the onset of sleep difficulties in infants at 3 months old

Sleep problems in young children are among the most common concerns reported to paediatricians. Sleep is thought to have important regulatory functions, and sleep difficulties in early childhood are linked to several psychosocial and physiological problems. Moreover, several prenatal factors have been found to influence infants’ sleep. Among them, most of the studies have been focused on maternal prenatal depression and/or anxiety as potential risk factors for sleep problems in childhood, whereas other relevant psychological factors during pregnancy have not received as much attention. Therefore, we aimed to examine the effect of several psychiatric maternal risk factors during pregnancy (i.e. symptoms of anxiety, depression, insomnia, alcohol use, seasonality, attention deficit and hyperactivity disorder and/or stressful life events) on the onset of some sleep problems related to sleep quality and sleep practices in 3‐month‐old infants. We examined 1,221 cases from a population‐based birth cohort, with subjective measures during pregnancy in mothers, and at 3 months after birth in the infants. The findings showed that all the maternal risk factors during pregnancy, except for symptoms of alcoholism and sleepiness, were related to sleep difficulties in infants. Interestingly, attention deficit and hyperactivity disorder symptomatology in mothers during pregnancy was the only variable that predicted more than two sleeping difficulties (i.e. long sleep‐onset latency, co‐sleeping with parents and irregular sleeping routines) at 3 months old. Our results highlight the relevance of maternal risk factors during pregnancy, and not only prenatal depression and/or anxiety, as variables to be considered when examining sleep difficulties in infants.