Socio-communicative Development Research Articles

Parent-child interaction at age 5 months: genetic and environmental contributions and associations with later socio-communicative development.

Characteristics of parent-child interaction (PCI) early in life have been associated with later development in the child. Twin studies can help to disentangle child contributions to parent-child interaction, for example, by assessing the influence of the child's genetics on his/her social environment, which includes parental behaviour. Infant twins from a community sample [354 monozygotic (MZ), 268 same-sex dizygotic (DZ)] were assessed in terms of PCI at age 5 months. We used the classical twin design to map the aetiology of several parent and child PCI scales and their covariation. We investigated the relations between PCI and later parent-rated child's social communication, language, and autistic traits at ages 2 and 3. Heritability was below 20% for all the included PCI traits. Unique (nonshared) environmental influences substantially overlapped across several PCI scales, suggesting that idiosyncrasies linked to each session shaped the scoring of several traits in a systematic way. Factor analysis revealed three uncorrelated latent factors, which were conceptualized as 'child negative affect', 'positive affective interaction', and 'parent's supportive strategies'. Parents who were rated highly on 'sensitive responsiveness' at 5 months tended to rate their offspring higher in terms of socio-communicative and language development and lower in terms of autistic traits in the second and third years of life. This study maps the phenotypic and aetiological structure of PCI in early infancy and supports the view that parents' sensitive responsiveness towards their infant is associated with later developmental gains in several domains. We did not find strong evidence of any so-called evocative genetic effects on parents' behaviour. We discuss the results considering the general challenge for lab-based observational PCI measures to capture the richness of parent-child interaction.

Annual Research Review: 'There, the dance is - at the still point of the turning world' - dynamic systems perspectives on coregulation and dysregulation during early development.

During development we transition from coregulation (where regulatory processes are shared between child and caregiver) to self-regulation. Most early coregulatory interactions aim to manage fluctuations in the infant's arousal and alertness; but over time, coregulatory processes become progressively elaborated to encompass other functions such as sociocommunicative development, attention and executive control. The fundamental aim of coregulation is to help maintain an optimal 'critical state' between hypo- and hyperactivity. Here, we present a dynamic framework for understanding child-caregiver coregulatory interactions in the context of psychopathology. Early coregulatory processes involve both passive entrainment, through which a child's state entrains to the caregiver's, and active contingent responsiveness, through which the caregiver changes their behaviour in response to behaviours from the child. Similar principles, of interactive but asymmetric contingency, drive joint attention and the maintenance of epistemic states as well as arousal/alertness, emotion regulation and sociocommunicative development. We describe three ways in which active child-caregiver regulation can develop atypically, in conditions such as Autism, ADHD, anxiety and depression. The most well-known of these is insufficient contingent responsiveness, leading to reduced synchrony, which has been shown across a range of modalities in different disorders, and which is the target of most current interventions. We also present evidence that excessive contingent responsiveness and excessive synchrony can develop in some circumstances. And we show that positive feedback interactions can develop, which are contingent but mutually amplificatory child-caregiver interactions that drive the child further from their critical state. We discuss implications of these findings for future intervention research, and directions for future work.

Early triadic interactions in the first year of life: a systematic review on object-mediated shared encounters.

Infants' early interactions with adults and everyday objects are key to socio-communicative development, but their emergence and development are still under debate. Aiming at describing the diversity of theoretical and methodological approaches on triadicity during the first year of life, we conducted a systematic and qualitative review of recent literature. Following PRISMA 2020 guidelines, we explored the scientific production of recent decades on triadic interactions up to 12 months of age. We initially screened 1943 items from which we obtained a final sample of 51 publications. Studies are usually conducted in laboratory settings, while ecological research is becoming increasingly common, especially in home settings. According to a thematic analysis of the data, we discussed the different perspectives on the origin and conceptualization of triadic interactions, and how they contribute to structuring and facilitating other developmental phenomena, such as the children's communicative gestures and uses of objects. Prior to the origin of intentional communication, adults facilitate early forms of triadicity based on fostering opportunities for infants' communication and engagement with both adults and materiality. However, there is a need for further research that explore the potential of early triadic interactions for parenting and early childhood education practises.

Stigma and knowledge about autism in Brazil: A psychometric and intervention study.

To promote the full inclusion of autistic people, we must change the knowledge and attitudes of non-autistic individuals. Unfortunately, access to autism information and support remains limited in Brazil, and stigma is also common. Brazilian researchers reached out to a researcher in the United States to co-develop Brazilian surveys to measure autism stigma and knowledge. Together, they made Brazilian versions of stigma and knowledge surveys which autistic people in the United States had helped make. They also adapted an online autism training used in other countries with help from three Brazilian autistic people and the mother of an autistic child. They used the new measures to see if the autism training improved autism stigma and knowledge among Brazilians. The surveys, called EARPA and ECAT in Brazil, were translated into Portuguese in a previous study. In the first study in this article, 532 Brazilians completed the stigma measure and 510 completed the knowledge measure. The researchers used exploratory graph analysis, which uses the connections between items in a survey to understand which items belong together. Seventy-nine Brazilians participated in the training. They were mostly white, female university students. The EGA showed that the stigma survey measured one big idea while the knowledge survey measured four ideas: diagnosis/cause; socio-communicative development; stimming and special interests; and autism in adulthood. Both scales are promising and may be helpful in future Brazilian and cross-cultural studies about autism. Participants reported more knowledge and less stigma after the autism training, which has been found in other countries too.

Development of Reflective Activity in Preschool Children as a Factor in their Socio-Communicative Development

At present, in accordance with the demands of modern society, particular importance is being gained by the socio-communicative development of preschool children, which focuses on the assimilation of socially accepted norms and values including moral and ethical values, the development of communication and children’s interaction with adults and peers, the formation of their independence, purposefulness, and self-regulation of their own actions, as well as emotional responsiveness and empathy and the formation of positive attitudes toward various kinds of work and creativity. The article reports the results of work on the development of reflective activity in preschool children as a factor in their socio-communicative development.

Multidimensional Development and Adaptive Behavioral Functioning in Younger and Older Children With Rett Syndrome.

The purpose of this study was to examine clinical severity, multidimensional development, and adaptive behavioral functioning in younger and older children with Rett syndrome (RTT) in the pseudostationary stage (stage III). Fourteen younger (≤10years of age) and 15 older (11-18years of age) children with confirmed stage III RTT (assigned to young-RTT and old-RTT groups, respectively) participated in this study. Clinical severity was determined using the Clinical Severity Score (CSS) scale for RTT. The children's cognitive, language, motor, and sociocommunicative development was assessed using the Mullen Scales of Early Learning (MSEL) and the Early Social Communication Scale (ESCS). Their adaptive behavioral and daily functional skills were assessed using the Vineland Adaptive Behavior Scales-Chinese version (VABS-C) and Pediatric Evaluation of Disability Inventory-Chinese version (PEDI-C). Compared with the young-RTT group, the old-RTT group had higher severity of scoliosis on the CSS scale, poorer fine motor scores on the MSEL, reduced eye contact, reduced alternating eye gaze, and reduced turn-taking during social interaction on the ESCS. However, none of the VABS-C or PEDI-C subscale scores differed significantly between the groups. Higher CSSs were significantly correlated with lower scores in several subscales of MSEL, ESCS, VABS-C, and PEDI-C, especially for gross motor, mobility, and socialization functioning in all children with RTT. Age-related differences in fine motor and sociocommunicative skills were observed between the young-RTT and old-RTT group, as measured using standardized assessments. Greater severity of RTT was correlated with poor motor, sociocommunicative, adaptive behavioral, and daily functional skills in stage III RTT. Practitioners should be aware of clinical severity and the differences of developmental and adaptive behavioral functioning between younger and older children in the pseudostationary stage of RTT to provide specific age-related treatments. With an understanding of severity and differences of developmental and adaptive behavioral functioning between younger and older children, clinical professionals can provide specific age-related treatments.

Atypical cerebellar functional connectivity at 9 months of age predicts delayed socio-communicative profiles in infants at high and low risk for autism.

While the cerebellum is traditionally known for its role in sensorimotor control, emerging research shows that particular subregions, such as right Crus I (RCrusI), support language and social processing. Indeed, cerebellar atypicalities are commonly reported in autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by socio-communicative impairments. However, the cerebellum's contribution to early socio-communicative development remains virtually unknown. Here, we characterized functional connectivity within cerebro-cerebellar networks implicated in language/social functions in 9-month-old infants who exhibit distinct 3-year socio-communicative developmental profiles. We employed a data-driven clustering approach to stratify our sample of infants at high (n = 82) and low (n = 37) familial risk for ASD into three cohorts-Delayed, Late-Blooming, and Typical-who showed unique socio-communicative trajectories. We then compared the cohorts on indices of language and social development. Seed-based functional connectivity analyses with RCrusI were conducted on infants with fMRI data (n = 66). Cohorts were compared on connectivity estimates from a-priori regions, selected on the basis of reported coactivation with RCrusI during language/social tasks. The three trajectory-based cohorts broadly differed in social communication development, as evidenced by robust differences on numerous indices of language and social skills. Importantly, at 9 months, the cohorts showed striking differences in cerebro-cerebellar circuits implicated in language/social functions. For all regions examined, the Delayed cohort exhibited significantly weaker RCrusI connectivity compared to both the Late-Blooming and Typical cohorts, with no significant differences between the latter cohorts. We show that hypoconnectivity within distinct cerebro-cerebellar networks in infancy predicts altered socio-communicative development before delays overtly manifest, which may be relevant for early detection and intervention. As the cerebellum is implicated in prediction, our findings point to probabilistic learning as a potential intermediary mechanism that may be disrupted in infancy, cascading into alterations in social communication.

Infant and Child-Directed Speech Used with Infants and Children at Risk or Diagnosed with Autism Spectrum Disorder: a Scoping Review

Infants diagnosed with autism spectrum disorder (autism) have difficulty engaging in social communication and interactions with others and often experience language impairment. The use of infant-directed speech (IDS), which is the speech register used when interacting with infants, is associated with infant language and socio-communicative development. The aim of this study was twofold; the first aim was to scope the literature to determine if evidence exists for differences between the IDS caregivers use to infants at high-risk or those later diagnosed with autism, and the IDS typically spoken to neurotypical infants. The second aim was to investigate if any IDS characteristics used by caregivers of high-risk or diagnosed infant populations predicted language development. Twenty-six studies were included and provided evidence that high-risk and later diagnosed infants are exposed to similar amounts of IDS as their neurotypical peers. There is evidence, however, that the IDS used with high-risk and later diagnosed infants may comprise shorter utterances, more action-directing content, fewer questions, more attention bids, and more follow-in commenting. There is also evidence that more attention bids and follow-in commenting used to infants at high risk or those later diagnosed with autism were associated with better language abilities longitudinally.

Организация физического воспитания дошкольников в педагогической системе М. Монтессори

To date, in the programs implemented according to the Montessori method, the section “Physical Education” has not been adapted. The section is aimed at developing the child's general culture, physical qualities and basic motor skills. In the process of physical education, the values of Maria Montessori are not realized. The Montessori pedagogical system is among the most relevant ones today as modern education is focused on the individualization of learning. The development of health in preschool children depends on their well-organized physical education, which should be directed towards the children's harmonious development and considered in an integrative relationship with the various sections of the preschool education program (artisti c, aesthetic, educational, verbal and socio-communicative development). The aim of the research is to develop the structure and content of the model of physical education of preschool children in the Montessori pedagogical system and check its effectiveness in a pedagogical experiment. To reach this aim, the following research methods were used: pedagogical observations, modeling, pedagogical testing, pedagogical experiment, mathematical and statistical data processing. In the course of the pedagogical experiment, a control (15 girls and 15 boys) and an experimental (15 girls and 15 boys) group were formed; a total of 60 five- and six-year-old pupils of the Montessori preschool educational institution in Tomsk took part in the study. To assess the effectiveness of the developed model, the following tests were selected: shuttle run 3x5 m, standing long jump, medicine ball throw, seated forward bends, ball catching at a distance of 5 meters. The model of preschoolers' physical education based on the integration of personality-oriented, activity-based, synergetic and technological approaches in the Montessori pedagogical system has shown its effectiveness. The research shows a positive dynamics of indicators reflecting the level of preschoo lers' motor readiness after the pedagogical experiment. At the end of the exp eriment, when comparing the indices of motor readiness demonstrated by the experimental group before and after the experiment, statistically significant differences were revealed in motor tests (ball catching at a distance of 5 m, shuttle run (3x5 m), medicine ball throwing), which indicates the effectiveness of the proposed model of five- and six-year-old preschoolers' physical education.

Effects of motion and audio-visual redundancy on upright and inverted face and feature preferences in 4-13-month old pre- and full-term NICU graduates

NICU infants are reported to have diminished social orientation and increased risk of socio-communicative disorders. In this eye tracking study, we used a preference for upright compared to inverted faces as a gauge of social interest in high medical risk full- and pre-term NICU infants. We examined the effects of facial motion and audio-visual redundancy on face and eye/mouth preferences across the first year. Upright and inverted baby faces were simultaneously presented in a paired-preference paradigm with motion and synchronized vocalization varied. NICU risk factors including birth weight, sex, and degree of CNS injury were examined. Overall, infants preferred the more socially salient upright faces, making this the first report, to our knowledge, of an upright compared to inverted face preference among high medical risk NICU infants. Infants with abnormalities on cranial ultrasound displayed lower social interest, i.e. less of a preferential interest in upright faces, when viewing static faces. However, motion selectively increased their upright face looking time to a level equal that of infants in other CNS injury groups. We also observed an age-related sex effect suggesting higher risk in NICU males. Females increased their attention to the mouth in upright faces across the first year, especially between 7–10 months, but males did not. Although vocalization increased diffuse attention toward the screen, contrary to our predictions, there was no evidence that the audio-visual redundancy embodied in a vocalizing face focused additional attention on upright faces or mouths. This unexpected result may suggest a vulnerability in response to talking faces among NICU infants that could potentially affect later verbal and socio-communicative development.

Understanding the Role of Objects in Joint Attention Task Framework for Children With Autism

Joint Attention (JA) refers to the triadic relationship between two individuals with a common target of interest in their shared visual space. JA is one of the core deficits in children with autism spectrum disorder (ASD), which adversely affects their overall socio-communicative development. Researchers have focused on the JA skill training using various approaches where the mediator/facilitator provides the JA cues toward a target of interest. Research studies have used different objects as targets of interest in JA skill training. However, the role of the objects for JA skill training has often been neglected. Objects in our environment aid in mediating the social relationships between children and their social partners and establishing socio-communicative relations with the environment. In this study, we have designed a virtual environment with virtual objects to understand the role of objects in JA skill training for individuals with ASD. We have created a database of virtual objects and projected these objects in a computer-based JA task framework. Based on a survey, we selected objects that were preferred by these children, with the rest being comparatively less preferred. Our experimental study involves presenting the designed virtual objects in a randomized manner in the computer-based JA task trials. Results of this study with a group of 15 children with ASD were promising. The results of this study indicate differentiated implications of preferred objects presented as target and non-target on the task performance and looking pattern of these children.

Noli Me Tangere: Social Touch, Tactile Defensiveness, and Communication in Neurodevelopmental Disorders.

Tactile defensiveness is a common feature in neurodevelopmental disorders (NDDs). Since the first studies, tactile defensiveness has been described as the result of an abnormal response to sensory stimulation. Moreover, it has been studied how the tactile system is closely linked to socio-communicative development and how the interoceptive sensory system supports both a discriminating touch and an affective touch. Therefore, several neurophysiological studies have been conducted to investigate the neurobiological basis of the development and functioning of the tactile system for a better understanding of the tactile defensiveness behavior and the social touch of NDDs. Given the lack of recent literature on tactile defensiveness, the current study provides a brief overview of the original contributions on this research topic in children with NDDs focusing attention on how this behavior has been considered over the years in the clinical setting.

Становление социально-коммуникативных навыков учащихся начальной школы в ходе реализации программы внеурочной деятельности

The article discusses the theoretical foundations of the problem of socio-communicative development of primary school children, the formation of their communicative universal educational actions. The pedagogical possibilities of the program of social and communicative development of primary school students in extracurricular activities are revealed. The goals, objectives and structure of the author’s program “We live in the world”, the mechanisms, forms, methods of its implementation in primary education are described. The results of a study of the ecopsychological types of interaction between a primary school student in the “man – educational environment” system and the formation of his subjective position in the process of communication with peers are presented.

Relations entre particularités sensorielles et imitation chez les enfants TSA de 3 à 5 ans

ObjectiveAutism Spectrum Disorder (ASD) is a neuro-developmental disorder resulting on atypical cognitive development characterized by communication and language disorders, restricted behaviors and sensory abnormalities, present in the most of subjects. These abnormalities cause many disorders, including motor and sensory-motor troubles. Imitation, which is characterized by the coordination between a visually perceived behavior and actively produced behavior, is in this perspective, a sophisticated sensory-motor coordination. It is strongly troubled in children with ASD, with significant negative effects on their future socio-communicative development. The aim of this research is to determine if imitation disorders increase with the number of sensory abnormalities. MethodsTwenty-two children (18 boys), aged from 3 to 5 years, were included in this study. Autism was assessed by the Chilhood Autism Rating Scale (CARS) and the Autism Diagnostic Observation schedule (ADOS). Dunn's Sensory and Revised Perceptual Profile was administered to determine the sensory profile for five senses: visual, auditive, tactile, proprioceptive and vestibular. Four types of imitation were evaluated: facial, motor, vocal and object. Statistical analyzes were conducted on the different scores obtained. ResultsAll children with autism have sensory abnormalities and imitation disorders. The more the children have sensory particularities, especially visual, the more their imitation skills are weak, especially in facial imitation. Imitation on object, conversely, seems less impacted. ConclusionThe sensory abnormalities could constitute a screen to the realization of the imitative tasks, by preventing the children to reach the social dimension of the imitation for example. These results illustrate the need to take into account these sensory features in specific care.

Characterising maternal pitch contours used during interactions with infants at high and low risk for autism spectrum disorder

Infant-directed speech (IDS) is the speech register used when interacting with infants. Pitch contours are a salient aspect of IDS and facilitate infant language and socio-communicative development. Little research investigates pitch contours within the context of socio-communication or language deficits, such as infants at high-risk (HR) for Autism Spectrum Disorder (autism). The aim of this study was to characterise pitch contours used by mothers when interacting with HR infants compared to mothers interacting with low-risk (LR) infants. 18 mothers and their 12-month-old infant (12m, 6f) participated in 15-minute recorded interactions. Autism risk was assessed via parent and observer-report. Pearson product-moment correlations were performed to determine relationships between maternal pitch contours and autism risk. Increased risk for autism was associated with fewer utterances (r = -0.576, N = 18, p = 0.01) and fewer rising (r = -0.586, N = 18, p = 0.01), sinusoidal (r = -0.636, N = 18, p = 0.005), and flat contours (r = -0.679, N = 18, p = 0.01), and more complex (r = 0.584, N = 18, p = 0.01), rapid (r = 0.526, N = 18, p = 0.03), and u-shaped contours (r = 0.619, N = 18, p = 0.02). These preliminary data suggest that mothers of HR infants use different patterns of pitch contours than LR mothers. Further assessment of IDS used with HR infants is warranted to identify at what stage IDS patterns deviate between groups.

К проблеме социально-коммуникативного развития детей-дошкольников в процессе обучения английскому языку

The article is devoted to the issues of social and communicative development of young learners in the process of foreign language instruction in line with the requirements of the Federal State Educational Standard of pre-school education. Although foreign language instruction is not viewed in the standard as a compulsory educational component, nowadays foreign language instruction is widespread in all types of pre-school institutions and is included in child care programs. However, in the early foreign language instruction methodology priority has always been given to effective methods and techniques, while the goals associated with social and moral development have been mostly declared in methodological research only. The analysis of the content of the “Socio-communicative development” educational area offers us an opportunity to identify the main components and areas for this kind of work with children. It was established that this educational field includes moral values that underlie moral consciousness as a whole, the development of social and emotional intelligence, which ensure the subject’s successful integration into society due to the ability to recognise, distinguish, and understand feelings and emotions and, on this basis, to carry out social interaction consciously and purposefully. It also involves the development of socially significant relationships that include a number of aspects. Firstly, it is the cognitive aspect, expressed in knowledge, ideas, images, meanings, etc. Secondly, it is the emotional and evaluative element which determines the choice of value and its further integration in behaviour. Thirdly there is the behavioural aspect which gives an individual determination to act in accordance with the above components. The close interconnection of all components, and, to a greater extent, the interconnection of intelligence and the emotional-evaluative component of relationships, as well as value orientations and attitudes, allow us to determine the areas for a child’s moral education in the process of foreign language instruction.

The Socio-Communicative Development of Preterm Infants Is Resistant to the Negative Effects of Parity on Maternal Responsiveness.

Humans are born completely dependent on adult care for survival. To get the necessary support, newborns rely on socio-communicative abilities which have both innate and learned components. Maternal responsiveness (MR), as a critical aspect of mother-infant interaction, is a robust predictor of the acquisition of socio-communicative abilities. However, maternal responsiveness (MR) is influenced by parity, since mothers rely on a limited capacity of cognitive control for efficient attachment with their offspring. This fact is of particular concern for preterms, whose developing brain already faces many challenges due to their premature emergence from the womb's controlled environment and may still have to compete with siblings for mother's attention. Thus, in the present work, we aimed to understand how parity interferes with MR and whether it affects the development of socio-communicative abilities of preterm infants. We used the Social Interaction Rating Scale (SIRS) and the mother-child observation protocol in 18 dyads with gestational age <36 weeks. Dyads were separated into three groups: primiparous with twin pregnancy (TPM), primiparous (PM), and multiparous (MP). Dyadic behavior was evaluated at 3, 6, 9, and 12 months. Our results show that offspring size affects MR, but not the socio-communicative development of preterm infants during the first year, suggesting a level of resilience of brain systems supporting the attachment to caregivers.

Social orienting and joint attention in preschoolers with autism spectrum disorders.

Children with Autism Spectrum Disorders (ASD) orient less to socially salient stimuli, such as dynamic social images, than typically developing children. In turn, this lack of social orienting is thought to impair affected individuals’ socio communicative development. Here, we aim to explore the relationship between time spent on dynamic social images and ASD behaviors, such as joint attention and communication, in preschoolers on the autism spectrum. In this study, social orienting is measured using eye-tracking during a task consisting of side-by-side presentations of dynamic social images and dynamic geometric images. The side of the screen where each type of video was presented alternated between items to avoid visual perseveration from influencing the location of participants’ first fixations. Visual exploration patterns recorded during the task from 33 preschoolers with ASD were compared with those of 27 typical developing (TD) children. Additionally, we quantified joint attention behaviors and used standardized parent reports to measure communication. We observed reduced orienting to dynamic social images in preschoolers with ASD compared to TD children. Also, ASD participants went to the dynamic social images less frequently for their first fixations. However, we observed great heterogeneity within the ASD group. ASD preschoolers who spent more time on the dynamic social images also presented more pronounced visual engagement with the dynamic social images (longer mean fixation duration and fewer saccades per second). Moreover, in the ASD group, more time spent on dynamic social images correlated with increased frequency of joint attention behaviors, which in turn correlated with improved communication skills. Our results support reduced social orienting in children with ASD, which correlated with their visual exploration patterns. Further, reduced orienting to the social world in young children with ASD is related to socio communicative deficits and should, therefore, be a focus of intervention programs as early as possible.

ПУТИ ФОРМИРОВАНИЯ КОММУНИКАТИВНЫХ УМЕНИЙ У ДЕТЕЙ 6–7 ЛЕТ С ОБЩИМ НЕДОРАЗВИТИЕМ РЕЧИ

This paper describes the approaches to the formation of communicative skills of children with general speech underdevelopment. General speech underdevelopment is considered as a complex speech disorder when children with normacusis and initially safe intellect demonstrate late start of speech development, poor vocabulary, pronunciation defects. These symptoms indicate the systemic violation of all components of speech activity. When studying speech disorders in conjunction with other sides of mental development, the paper highlights the characteristics imposed by the insufficient speech activity on the development of phonemic awareness, memory. At the present stage of preschool education development, the socio-communicative development of children, and namely the formation of verbal communication has great importance. The author analyzed the theoretical study displayed that the violations of speech communication of preschool children impede their orientation in the world of peers, adults and the environment. It causes the underdevelopment of communicative skills that affects the child’s behavior, his activity in the process of different types of activities, and the unwillingness to communicate with peers and adults, as well as the abnormality of the speech function development. The author carried out the experiment to study the influence of corrective games and exercises on the formation of communicative skills of children with general speech underdevelopment. The paper presents the stages during which games and exercises different in learning content, children communicative activity, play activities and rules, organization and relationships of children, and the role of educator were offered to children. This issue is comprehensive.

The role of genetic factors and pre- and perinatal influences in the etiology of autism spectrum disorders - indications for genetic referral.

Autism spectrum disorders (ASD) are caused by disruptions in early stages of central nervous system development and are usually diagnosed in first years of life. Despite common features such as impairment of socio-communicative development and stereotypical behaviours, ASD are characterised by heterogeneous course and clinical picture. The most important aetiological factors comprise genetic and environmental influences acting at prenatal, perinatal and neonatal period. The role of rare variants with large effect i.e. copy number variants in genes regulating synapse formation and intrasynaptic connections is emphasised. Common variants with small effect may also be involved, i.e. polymorphisms in genes encoding prosocial peptides system - oxytocin and vasopressin. The environmental factors may include harmful effects acting during pregnancy and labour, however their specificity until now is not confirmed, and in some of them a primary genetic origin cannot be excluded. In several instances, especially with comorbid disorders - intellectual disability, epilepsy and dysmorphias - a detailed molecular diagnostics is warranted, which currently may elucidate the genetic background of disorder in about 20% of cases.