This chapter begins with an overview of the controversy surrounding the study of children and adults with neurodevelopmental disorders, and how these inform theories of neurocognitive architecture. It weighs the arguments for and against what we might learn from studying individuals who have fundamental biological impairments. It then discusses the example of research on theory of mind in two different disorders — autism and Williams syndrome — which has highlighted a number of important aspects of how this (...) core cognitive capacity develops in both normal and atypical populations. (shrink)

Our commentary addresses how two neurodevelopmental disorders, Williams syndrome and autism spectrum disorder, provide novel insights into the credible signaling and music and social bonding hypotheses presented in the two target articles. We suggest that these neurodevelopmental disorders, characterized by atypical social communication, allow us to test hypotheses about music, social bonding, and their underlying neurobiology.

This book is unique in presenting evidence on development across the lifespan across multiple levels of description. The authors use a well-defined disorder - Williams syndrome, to explore the impact of genes, brain development, behaviour, as well as the individual's environment on development.

The publication of DSM-5 has been accompanied by a fair amount of controversy. Amongst DSM’s most vocal ‘insider’ critics has been Thomas Insel, Director of the US National Institute of Mental Health. Insel has publicly criticised DSM’s adherence to a symptom-based classification of mental disorder, and used the weight of the NIMH to back a rival research strategy aimed at a more biology-based diagnostic classification. This strategy is part of Insel’s vision of a future, more preventative psychiatry in which mental (...) disorders are not only understood as biological disorders of the brain, but also as neurodevelopmental disorders. This paper examines the interest and merit of Insel’s views of mental and neurodevelopmental disorder for the philosophy of psychopathology, with a special focus of his neurodevelopmental model of schizophrenia. Pitman’s ‘moderate materialism’ will be used both as a philosophical lens through which to examine Insel’s position, as well as an example of a philosophical framework that may require updating and revision in the light of moves towards a neurodevelopmental conception of mental disorder. (shrink)

The genetic interaction between mother and fetus during pregnancy is discussed, focusing on teratogenic alleles that act in the mother to alter fetal development and contribute to a neurodevelopmental disorder. For these alleles, the mother is the genetic patient. Teratogenic alleles interact with modifying and specificity alleles that act in the fetus and with environmental factors. Based on examples of the model, two candidate mechanisms emerge as contributors to neurodevelopmental disorders, folate‐homocysteine pathways and immune/inflammatory mechanisms. Both, acting (...) in mothers, affect fetal development and contain many polymorphic genes. These two systems interact with each other. Common functional polymorphisms of mild effect in these two systems of interacting genes are good candidates for teratogenic alleles. The presence of teratogenic alleles complicates gene identification for neurodevelopmental disorders. However, using the special methods required to identify teratogenic alleles is important because this could lead to new approaches to prevention and improved therapy of these disorders. BioEssays 25:464–477, 2003. © 2003 Wiley Periodicals, Inc. (shrink)

The present study examines the comorbidity between specific learning disorders and attention deficit and hyperactivity disorder by comparing the neuropsychological profiles of children with and without this comorbidity. Ninety-seven schoolchildren from 8 to 14 years old were tested: a clinical sample of 49 children with ADHD, SLD or SLD in comorbidity with ADHD, and 48 typically-developing children matched for age and intelligence. Participants were administered tasks and questionnaires to confirm their initial diagnosis, and a battery of executive function tasks (...) testing inhibition, shifting, and verbal and visuospatial updating. Using one-way ANOVAs, our results showed that all children in the clinical samples exhibited impairments on EF measures when compared with TD children. A more specific pattern only emerged for the updating tasks. Only children with SLD had significant impairment in verbal updating, whereas children with ADHD, and those with SLD in comorbidity with ADHD, had the worst performance in visuospatial updating. The clinical and educational implications of these findings are discussed. (shrink)

Background Genomic research on neurodevelopmental disorders (NDDs), particularly involving minors, combines and amplifies existing research ethics issues for biomedical research. We performed a review of the literature on the ethical issues associated with genomic research involving children affected by NDDs as an aid to researchers to better anticipate and address ethical concerns. Results Qualitative thematic analysis of the included articles revealed themes in three main areas: research design and ethics review, inclusion of research participants, and communication of research (...) results. Ethical issues known to be associated with genomic research in general, such as privacy risks and informed consent/assent, seem especially pressing for NDD participants because of their potentially decreased cognitive abilities, increased vulnerability, and stigma associated with mental health problems. Additionally, there are informational risks: learning genetic information about NDD may have psychological and social impact, not only for the research participant but also for family members. However, there are potential benefits associated with research participation, too: by enrolling in research, the participants may access genetic testing and thus increase their chances of receiving a (genetic) diagnosis for their neurodevelopmental symptoms, prognostic or predictive information about disease progression or the risk of concurrent future disorders. Based on the results of our review, we developed an ethics checklist for genomic research involving children affected by NDDs. Conclusions In setting up and designing genomic research efforts in NDD, researchers should partner with communities of persons with NDDs. Particular attention should be paid to preventing disproportional burdens of research participation of children with NDDs and their siblings, parents and other family members. Researchers should carefully tailor the information and informed consent procedures to avoid therapeutic and diagnostic misconception in NDD research. To better anticipate and address ethical issues in specific NDD studies, we suggest researchers to use the ethics checklist for genomic research involving children affected by NDDs presented in this paper. (shrink)

The Internet has quickly gained popularity as a major source of health-related information, but its impact is unclear. Here, we investigate the extent to which advocacy websites for three neurodevelopmental disorders—cerebral palsy (CP), autism spectrum disorder (ASD) and fetal alcohol spectrum disorder (FASD)—inform stakeholders about treatment options, and discuss the ethical challenges inherent in providing such information online. We identified major advocacy websites for each disorder and assessed website accountability, the number, attributes, and accessibility of treatments described, and (...) the valence of treatment information. With the exception of FASD websites, we found that advocacy websites provide a plethora of information about a wide variety of readily available products and services. Treatment information is primarily targeted at families and is overwhelmingly encouraging, regardless of the type or conventionality of treatments. Many websites acknowledge corporate sponsors. While the majority do not overtly advertise or endorse specific brands, they also do not prominently display disclaimers about the nature and intent of treatment information. Thus, while advocacy websites are organized to serve as information clearinghouses, they implicitly appear to provide endorsement of selected treatments and services. We conclude with recommendations for new partnerships between government-funded health organizations, advocacy and investigators to make more transparent the role of online information in informing treatment options and improving the evaluation of information. (shrink)

People with neurodevelopmental disorders are often considered unsuitable or incapable of working in open employment. When employment is available, tasks are often limited, and opportunities for career development are restricted. Policy and funding constraints leave people with disabilities without an opportunity to develop skills due to the additional time and costs for employers. To overcome these barriers, virtual environments have been proposed as a safe and reliable solution for training. An important prerequisite for a wider uptake of training (...) in virtual environments are demonstrations that the training leads to improved performance in the real world. This is particularly true for people with neurodevelopmental disorders, as transferring learnings from one context to another can be challenging. A systematic review was conducted to assess whether training in virtual environments can be used to improve real-world vocational skills in people with neurodevelopmental disorders. After a systematic search in six databases, eight out of the initially identified 1,806 articles met the inclusion criteria. The findings from these eight studies demonstrate that people with neurodevelopmental disorders can transfer vocational skills from virtual environments to real-world settings. With substantial technological improvements, a surge in accessibility, and improved affordability, there is a need to build upon the promising results identified in this review. (shrink)

The emergent Coronavirus Disease 2019 caused by the Severe Acute Respiratory Syndrome Coronavirus 2 could produce a maternal immune activation via the inflammatory response during gestation that may impair fetal neurodevelopment and lead to postnatal and adulthood mental illness and behavioral dysfunctions. However, so far, limited evidence exists regarding long-term physiological, immunological, and neurodevelopmental modifications produced by the SARS-CoV-2 in the human maternal-fetal binomial and, particularly, in the offspring. Relevant findings derived from epidemiological and preclinical models show that a (...) MIA is indeed linked to an increased risk of neurodevelopmental disorders in the offspring. We hypothesize that a gestational infection triggered by SARS-CoV-2 increases the risks leading to neurodevelopmental disorders of the newborn, which can affect childhood and the long-term quality of life. In particular, disruption of either the maternal or the fetal cholinergic anti-inflammatory pathway could cause or exacerbate the severity of COVID-19 in the maternal-fetal binomial. From a translational perspective, in this paper, we discuss the possible manifestation of a MIA by SARS-CoV-2 and the subsequent neurodevelopmental disorders considering the role of the fetal-maternal cytokine cross-talk and the CAP. Specifically, we highlight the urgent need of preclinical studies as well as multicenter and international databanks of maternal-fetal psychophysiological data obtained pre-, during, and post-infection by SARS-CoV-2 from pregnant women and their offspring. (shrink)

There is substantial literature on fetal alcohol spectrum disorder research involving Aboriginal children, but little related literature on other common neurodevelopmental conditions such as autism spectrum disorder or cerebral palsy for this population. As part of our work in cross-cultural neuroethics, we examined this phenomenon as a case study in Canada. We conducted semi-structured interviews with health researchers working on the frontline with First Nation communities to obtain perspectives about: reasons for the lack of ASD and CP research within (...) the Aboriginal context, the potential ethical and social implications of this disparity, and recommendations for change. Participants reported that the major barriers to engage in ASD or CP research are under-reporting and under-diagnosis of these conditions in Aboriginal communities, difficulties in establishing trust between community members and researchers, challenges in accessing children living under the care of child welfare services, and lack of support from universities and funding agencies to encourage community partnerships. They further perceived threats to justice as the population is denied the benefits of ASD and CP research, and stigma related to the possible over-representation of FASD in the population. The adoption of strength- and community-based practices to improve engagement and address disparities, and to create health databases with prevalence rates that are representative of all forms of disability in both Aboriginal and non-Aboriginal populations are critical steps to close these gaps. (shrink)

Difficulties with executive function have often been identified in individuals with various neurodevelopmental disorders such as Autism Spectrum Disorder, Attention-Deficit Hyperactivity Disorder, and Developmental Co-ordination Disorder. Additionally, in childhood and adolescence, executive functioning is an important predictor of academic achievement. However, less research has explored these relationships in adult students, and those with a high level of neurodevelopmental disorder traits but no clinical diagnosis. Therefore, the current study aimed to assess whether ASD, ADHD, and DCD traits can (...) predict academic achievement in university students, and whether traits of these neurodevelopmental conditions moderate the relationship between executive function and academic achievement. Both neurotypical students and those with a clinical diagnosis of a neurodevelopmental disorder were able to participate, with the majority being neurotypical. Participants completed four self-report questionnaires and provided a measure of academic achievement based on their university assignment results. Traits of ASD, ADHD, and DCD alone did not predict achievement, however, traits of ADHD and DCD significantly moderated the relationship between executive function and academic achievement. ASD traits did not significantly moderate this relationship. Implications and suggestions for future research are also discussed. (shrink)

Neurodevelopmental disorders such as autism affect one-eighth of all U.S. newborns. Yet scientists, accessing the same data and using Bradford-Hill guidelines, draw different conclusions about the causes of these disorders. They disagree about the pesticide-harm hypothesis, that typical United States prenatal pesticide exposure can cause neurodevelopmental damage. This article aims to discover whether apparent scientific disagreement about this hypothesis might be partly attributable to questionable interpretations of the Bradford-Hill causal guidelines. Key scientists, who claim to employ (...) Bradford-Hill causal guidelines, yet fail to accept the pesticide-harm hypothesis, fall into errors of trimming the guidelines, requiring statistically-significant data, and ignoring semi-experimental evidence. However, the main scientists who accept the hypothesis appear to commit none of these errors. Although settling disagreement over the pesticide-harm hypothesis requires extensive analysis, this article suggests that at least some conflicts may arise because of questionable interpretations of the guidelines. (shrink)

This article elaborates on Putnam's ''discrete behavioral states'' model of dissociative identity disorder (Putnam, 1997) by proposing the involvement of the orbitalfrontal cortex in the development of DID and suggesting a potential neurodevelopmental mechanism responsible for the development of multiple representations of self. The proposed ''orbitalfrontal'' model integrates and elaborates on theory and research from four domains: the neurobiology of the orbitalfrontal cortex and its protective inhibitory role in the temporal organization of behavior, the development of emotion regulation, the (...) development of the self, and experience-dependent reorganizing neocortical processes. The hypothesis being proposed is that the experience-dependent maturation of the orbitalfrontal cortex in early abusive environments, characterized by discontinuity in dyadic socioaffective interactions between the infant and the caregiver, may be responsible for a pattern of lateral inhibition between conflicting subsets of self-representations which are normally integrated into a unified self. The basic idea is that the discontinuity in the early caretaking environment is manifested in the discontinuity in the organization of the developing child's self. (shrink)

Prenatal alcohol exposure interferes with neurodevelopment. The brain is particularly susceptible to the adverse consequences of prenatal alcohol exposure, and numerous studies have documented changes to brain anatomy and function, as well as consequences for cognition, behavior, and mental health. Studies in typically developing individuals have shown that the brain undergoes dynamic developmental processes over an individual’s lifespan. Furthermore, magnetic resonance imaging studies in other neurodevelopmental and psychiatric disorders have shown that their developmental trajectories differ from the typical (...) pattern. Therefore, to understand long-term clinical outcomes of fetal alcohol spectrum disorders, it is necessary to investigate changes in neurodevelopmental trajectories in this population. Here we review studies that have used MRI to evaluate changes in brain structure and function over time via cross-sectional or longitudinal methods in individuals with PAE. Research demonstrates that individuals with PAE have atypical cortical and white matter microstructural developmental trajectories through childhood and adolescence. More research is needed to understand how factors such as sex and postnatal experiences may further mediate these trajectories. Furthermore, nothing is known about the trajectories beyond young adulthood. (shrink)

Although we are beginning to understand the neuronal and biochemical nature of sleep regulation, questions remain about how sleep is homeostatically regulated. Beyond its importance in basic physiology, understanding sleep may also shed light on psychiatric and neurodevelopmental disorders. Recent genetic studies in mammals revealed several non-secretory proteins that determine sleep duration. Interestingly, genes identified in these studies are closely related to psychiatric and neurodevelopmental disorders, suggesting that the sleep-wake cycle shares some common mechanisms with these (...) disorders. Here we review recent sleep studies, including reverse and forward genetic studies, from the perspectives of sleep duration and homeostasis. We then introduce a recent hypothesis for mammalian sleep in which the fast and slow Ca2+-dependent hyperpolarization pathways are pivotal in generating the SWS firing pattern and regulating sleep homeostasis, respectively. Finally, we propose that these intracellular pathways are potential therapeutic targets for achieving depolarization/hyperpolarization balance in psychiatric and neurodevelopmental disorders. How animals implement sleep homeostasis is a great mystery. Here, we review recent studies with highlighting the hypothesis that the slow Ca2+-dependent hyperpolarization pathway regulates sleep homeostasis via modifying the fast pathway; the activity of CaMKIIα/β increases during wakefulness, which triggers sleep by phosphorylating the components in the fast pathway. (shrink)

This article gives an overview of what we can learn about face perception from studying its disorders. The term “disorders” is broadly interpreted to include acquired brain injury and disease, neurodevelopmental differences, and neuropsychiatric problems. The article examines the reasons for various opinions about what can be learnt from disorders, ranging from the entire spectrum from “nothing that isn't misleading” to “everything worth knowing.” Cognitive neuropsychology typically operates in a unique way, in which the emphasis is (...) on detailed analysis of individual patients with theoretically interesting impairments. The article then highlights a number of the assumptions that get made, explains why things are often complicated, and emphasizes the value of a pragmatic “converging operations” approach in which evidence from disorders of face perception is brought together with other sources of data and theory. (shrink)

What is attention? How does it go wrong? Do attention deficits arise from genes or from the environment? Can we cure it with drugs or training? Are there disorders of attention other than deficit disorders? The past decade has seen a burgeoning of research on the subject of attention. This research has been facilitated by advances on several fronts: New methods are now available for viewing brain activity in real time, there is expanding information on the complexities of (...) the biochemistry of neural activity, individual genes can be isolated and their functions identified, analysis of the component processes included under the broad umbrella of "attention" has become increasingly sophisticated, and ingenious methods have been devised for measuring typical and atypical development of these processes, from infancy into childhood, and then into adulthood. In this book, Kim Cornish and John Wilding are concerned with attention and its development, both typical and atypical, particularly in disorders with a known genetic etiology or assumed genetic linkage. Tremendous advances across seemingly diverse disciplines - molecular genetics, pediatric neurology, child psychiatry, developmental cognitive neuroscience, and education - have culminated in a wealth of new methods for elucidating disorders at multiple levels, possibly paving the way for new treatment options. Cornish and Wilding use three specific-yet-interlinking levels of analysis: genetic blueprint, the developing brain, and the behavioral-cognitive outcomes, as the basis for charting the attention profiles of six well-documented neurodevelopmental disorders: ADHD, autism, fragile X syndrome, Down syndrome, Williams syndrome, and 22q11 deletion syndrome. Their overarching aim in this book is to provide the most authoritative and extensive account to date of disorder-specific attention profiles and their development from infancy through adolescence. (shrink)

Autism spectrum disorders (ASDs) are an issue of growing public health significance. This set of neurodevelopmental disorders, which includes autistic disorder, Asperger syndrome, and pervasive developmental disorder not otherwise specified (PDD-NOS), is characterized by abnormalities in one or more of the following domains: language use, reciprocal social interactions, and/or a pattern of restricted interests or stereotyped behaviors. Prevalence estimates for ASDs have been increasing over the past few decades, with estimates at ~5/10,000 in the 1960s, and current (...) estimates as high as 1/88 (Newschaffer et al. 2007; CDC 2012).1 While ASDs encompass a wide range of phenotypes and degrees of severity, the disorders .. (shrink)

A tic disorder (TD) is a neurodevelopmental disorder characterized by tics, which are repetitive movements and/or vocalizations that occur due to aberrant sensory gating. Its pathophysiology involves dysfunction in multiple parts of the cortico-striato-thalamo-cortical circuits. Spontaneous brain activity during the resting state can be used to evaluate the baseline brain state, and it is associated with various aspects of behavior and cognitive processes. Theta–gamma coupling (TGC) is an emerging technique for examining how neural networks process information through interactions. However, (...) the resting-state TGC of patients with TD and its correlation with cognitive function have not yet been studied. We investigated the resting-state TGC of 13 patients with TD and compared it with that of 13 age-matched healthy children. The participants underwent resting-state electroencephalography with their eyes closed. At the global level, patients with TD showed a significantly lower resting-state TGC than healthy children. Resting-state TGC with the eyes closed was significantly negatively correlated with the attention quotient calculated for omission errors in a selective visual attention test. These findings indicate that the resting-state brain network, which is important for the attentional processing of visual information, is dysfunctional in patients with TD. Additionally, these findings support the view that TGC reflects information processing and signal interactions at the global level. Patients with TD may have difficulty gating irrelevant sensory information in the resting state while their eyes are closed. (shrink)

Lewis’ neurodevelopmental model provides a plausible alternative to the brain disease model of addiction that is a dominant perspective in the USA. We disagree with Lewis’ claim that the BDMA is unchallenged within the addiction field but we agree that it provides unduly pessimistic prospects of recovery. We question the strength of evidence for the BDMA provided by animal models and human neuroimaging studies. We endorse Lewis’ framing of addiction as a developmental process underpinned by reversible forms of neuroplasticity. (...) His view is consistent with epidemiological evidence of addicted individuals ‘maturing out’ and recovering from addiction. We do however hold some reservations about Lewis’ model. We do not think that his analysis of the neurobiological evidence is clearly different from that of the BDMA or that his neurodevelopmental model provides a more rigorous interpretation of the evidence than the BDMA. We believe that our understanding of the neurobiology of drug use is too immature to warrant the major role given to it in the BDMA. Our social research finds very mixed support for the BDMA among addicted people and health professionals in Australia. Lewis’ account of addiction requires similar empirical evaluation of its real-world implications. (shrink)

Explaining the causal mechanisms that contribute to autism spectrum disorder occurrence remains a conundrum in developmental medicine, neuroscience, and child psychiatry. Recent research has resulted in agreement on behavioral definitions and their underlying cognitive processes, early diagnosis and standardized assessments, evidence-based interventions, systems-level approaches to neurobiology, and identification of genetic variants and their interaction with epigenetic and environmental factors. However, an explanatory model of autism causation remains elusive.Perhaps..

Early-Onset Schizophrenia (EOS) and Attention Deficit-Hyperactivity Disorder (ADHD) are early- onset neurodevelopmental disorders associated with cognitive deficits. The current study represents the first attempt to compare these groups on a comprehensive cognitive test battery in a longitudinal design over 25 years in order to enhance our knowledge of particular patterns resulting from the interaction between normal maturational processes and different illness processes of these disorders. In the baseline study, 19 adolescents with schizophrenia were compared to 20 adolescents (...) with ADHD and 30 healthy controls (HC), all between 12 and 18 years of age. After 13 years (T2) and after 25 years (T3) they were re-evaluated with the cognitive test battery. A cognitive Composite Score was used in a linear mixed model. The EOS group had a significant cognitive stagnation or deterioration from T1 to T2 compared to HC. However, the EOS group had the most positive change from T2 to T3, supporting a stable level of cognitive performance over the 25 year span. The ADHD group improved or had similar development as the HC group from T1 to T2. They continued to improve significantly compared to the HC group from T2 to T3. Individuals in the EOS group performed more impaired on the cognitive composite score compared to the HC group and the ADHD group at all three time points. Results might indicate a neurodevelopmental pathway of EOS with subnormal cognitive development specific in adolescence. In comparison, the ADHD group had a more consistent cognitive maturation supporting a maturational delay hypothesis of ADHD. (shrink)

Developmental Coordination Disorder and Attention-Deficit/Hyperactivity Disorder are unique neurodevelopmental disorders with overlaps in executive functions and motor control. The conditions co-occur in up to 50% of cases, raising questions of the pathological mechanisms of DCD versus ADHD. Few studies have examined these overlaps in adults with DCD and/or ADHD. Therefore, to provide insights about executive functions and motor control between adults with DCD, ADHD, both conditions, or typically developed controls, this study used a stop-signal task and parallel EEG (...) measurement. We assessed executive performance via go accuracy and go reaction time, as well as motor response inhibition via stop-signal reaction time. This was complemented with analysis of event-related potentials. Based on existing investigations of adults with DCD or ADHD, we expected groups would not differ in behavioral performance on stop and go trials, but differences in ERPs, particularly in components N200 and P300 would be evident. The sample included N = 50 adults with DCD, ADHD, DCD + ADHD, and control participants. We replicated that there were no between-group differences for behavioral-level executive performance and motor response inhibition. However, on a physiological level, ERP components N200 and P300 differed between groups, particularly during successful response inhibition. These ERPs reflect potential endophenotypic differences not evident in overt behavior of participants with ADHD and/or DCD. This suggests a disorder specific employment of inhibition or general executive functions in groups of adults with DCD, DCD + ADHD, ADHD, or control participants. (shrink)

The last two decades have seen a dramatic increase in scientific publications on Tourette syndrome, but the etiology of this common neurodevelopmental condition is still unknown. Many questions remain—about the unitary nature of the syndrome, and the criteria used to define it in such internationally accepted manuals as the Diagnostic and Statistical Manual of Mental Disorders and the International Classification of Disorders. Meanwhile, individuals and families affected by TS remain underserviced, as pharmacological and behavioral therapies provide relief (...) for some but not all who need support. We urgently need new... (shrink)

Attention-deficit hyperactivity disorder is one of the most common neurodevelopmental disorders in children and adolescents. People who have this disorder are characterized by presenting difficulties in the processes of sustained attention, being very active, and having poor control of their impulses. Despite the high prevalence of this disorder and the existence of various tests used for its diagnosis, few data are available regarding the usefulness and diagnostic validity of these tools. Given the difficulties that these subjects present in (...) executive functions, the aim of this study was to evaluate whether the Neuropsychological Assessment of Executive Functions battery for Children allows to establish specific profiles of executive performance for people with attention-deficit hyperactivity disorder. The sample was made up of 197 participants of both sexes, aged between 6 and 12 years age. A nonexperimental design was followed, using a comparative descriptive study method. The results indicated that the scales of phonological fluency, color path, rings, and interference are the most associated with the diagnosis of ADHD, providing data on inhibition, mental flexibility, sustained and selective attention, planning, verbal fluency, and working memory, among others. The practical implication of these results is in line with providing support in the clinical diagnosis that is carried out in children’s mental health units. In addition, the ENFEN tool can be valued as a suitable psychometric instrument in the psychoeducational field, helping professionals in a school environment to be more aware of the areas of cognitive development in which a student diagnosed with ADHD will have more difficulties and, in doing so, providing more adjusted and effective psychopedagogical measures when it comes to supporting students in their adaptation to the school environment. (shrink)

While several recent evaluation studies have shown the efficacy of parent training programs for children with neurodevelopmental disorders, manual-based training in German is still scarce. To address this gap, we developed a specific modularized training program for parents of children from preschool to pre-adolescent age with Autism Spectrum Disorder. The overarching purpose of the FETASS intervention is to enhance social communication behavior and quality of life of the child by coaching parents. As a proximal target, the FETASS training (...) aims to provide families with behavior management and communication strategies. The development of the training was influenced by published behavioral parent trainings and autism-specific interventions. The training comprises eight weekly sessions and targets families whose children have a diagnosis of Autism Spectrum Disorder without intellectual and language impairments. As a preliminary pilot study, the purpose was to evaluate the acceptability of the training. Furthermore, the study aimed at initially evaluating social communication behavior, quality of life of the child, parental stress level, and parenting after training in comparison to a treatment as usual group. Exploratively, long-term effects were investigated after 6 months of training as well. In total, 57 families participated. Questionnaires about social communication behavior and quality of life of the child, parental stress, and parenting were administered at three time points. Primary outcome measures were the social communication behavior of the child and the parent’s proxy report on quality of life of the child. Secondary outcome measures were changes in parental stress and parenting behavior. Acceptability of the training was very high and we had almost no dropouts during training. Results for the primary outcome measure of social communication behavior, overall quality of life of the child, and long-term effects on social communication behavior were not significant. While long-term findings for parent stress reduction and for the quality of life of the child are promising, further research has to be done in a future randomized controlled trial. (shrink)

Objectives: Autism spectrum disorder (ASD) is a juvenile onset neurodevelopmental disorder with social impairment and stereotyped behavior as the main symptoms. Unaffected relatives may also exhibit similar ASD features due to genetic factors. Although previous studies have demonstrated atypical brain morphological features as well as task-state brain function abnormalities in unaffected parents with ASD children, it remains unclear the pattern of brain function in the resting state.Methods: A total of 42 unaffected parents of ASD children (pASD) and 39 age-, (...) sex-, and handedness-matched controls were enrolled. Multiple resting-state fMRI (rsfMRI) analyzing methods were applied, including amplitude of low-frequency fluctuation (ALFF), regional homogeneity (ReHo), degree centrality (DC), and functional connectivity (FC), to reveal the functional abnormalities of unaffected parents in ASD-related brain regions. Spearman Rho correlation analysis between imaging metric values and the severity of ASD traits were evaluated as well.Results: ALFF, ReHo, and DC methods all revealed abnormal brain regions in the pASD group, such as the left medial orbitofrontal cortex (mOFC) and rectal gyrus (ROI-1), bilateral supplementary motor area (ROI-2), right caudate nucleus head and right amygdala/para-hippocampal gyrus (ROI-3). FC decreasing was observed between ROI-1 and right anterior cingulate cortex (ACC), ROI-2, and bilateral precuneus. FC enhancing was observed between ROI-3 and right anterior cerebellar lobe, left medial temporal gyrus, left superior temporal gyrus, left medial frontal gyrus, left precentral gyrus, right postcentral gyrus in pASD. In addition, ALFF values in ROI-1, DC values in ROI-3 were positively correlated with AQ scores in pASD (ρ1 = 0.298, P1 = 0.007; ρ2 = 0.220, P2 = 0.040), while FC values between ROI-1 and right ACC were negatively correlated with AQ scores (ρ3 = −0.334, P3 = 0.002).Conclusion: rsfMRI metrics could be used as biomarkers to reveal the underlying neurobiological feature of ASD for unaffected parents. (shrink)

Introduction The bioethics literature reflects significant interest in and concern with the use of genetic and genomic information in various settings. Because psychiatric treatment and research raises unique ethical, legal, and social issues, we conducted a scoping review of the biomedical, bioethics, and psychology literature regarding the application of genetic and genomic tools to psychiatric disorders (as listed in the DSM-5) and two associated behaviors or symptoms to provide a more detailed overview of the state of the field. Objectives (...) The primary objective was to examine the available bioethics, biomedical, and psychology literature on applying genetic and genomic tools to psychiatric disorders (other than neurodevelopmental disorders) and two behaviors or symptoms sometimes associated with them (aggression or violence and suicidality) to identify the disorders to which these tools have been applied, the contexts in or purposes for which they have been applied, the ethical, legal, or social concerns associated with those uses, and proposed recommendations for mitigating those concerns. Methods We used Arksey and O’Malley’s scoping review framework: (1) identify the research question; (2) identify relevant studies; (3) select studies; (4) chart the data; and (5) collate, summarize, and report results (2005). We relied on Levac et al. to inform our application of the framework (2010). The PRISMA extension for scoping reviews checklist informed our reporting (2018). We searched three electronic databases MEDLINE (PubMed), Embase, and PsycInfo (EbscoHost) for peer-reviewed journal articles in English to identify relevant literature. One author screened the initial results and additional screening was done in consultation with other authors. A data extraction form using DSM-5 diagnostic categories (excluding neurodevelopmental disorders) was developed and two authors independently each reviewed approximately half of the articles. Inter-rater reliability was ensured by double-coding approximately 10% of the papers. An additional author independently coded 10% of the articles to audit the data. Results In 365 coded publications, we identified 15 DSM-5 diagnostic categories in addition to the two pre-selected behaviors or symptoms (aggression or violence and suicidality) to which genetic or genomic tools have been applied. We identified 11 settings in or purposes for which these tools were applied. Twenty-two types of ethical, legal, or social concerns associated with the application of genetic or genomic tools to these disorders or behaviors/symptoms were identified along with 13 practices or policies that could mitigate these concerns. Conclusion Genetic and genomic tools have been applied to a wide range of psychiatric disorders. These raise a range of ethical, legal, and social concerns. Additional research is warranted to better understand the concerns and effective ways to address them. Advancing the literature to identify relevant ethical, legal, or social concerns and solutions to those problems likely requires greater attention to specific applications of genetic or genomic tools to particular psychiatric disorders and associated behaviors/symptoms as well as broad stakeholder engagement. (shrink)

Background: Fetal alcohol spectrum disorder (FASD), a complex diagnosis that includes a wide range of neurodevelopmental disabilities, results from exposure to alcohol in the womb. FASD remains poorly understood by Canadians, which could contribute to reported stigma faced by both people with FASD and women who drink alcohol while pregnant. Methods: To better understand how information about FASD is presented in the public sphere, we conducted content analysis of 286 articles from ten major English-language Canadian newspapers (2002-2015). We used (...) inductive coding to derive a coding guide from the data, and then iteratively applied identified codes back onto the sample, checking inter-coder reliability. Results: We identified six major themes related to clinical and scientific media content: 1) prevalence of FASD and of women’s alcohol consumption; 2) research related to FASD; 3) diagnosis of FASD; 4) treatment of FASD and maternal substance abuse; 5) primary disabilities associated with FASD; and 6) effects of alcohol exposure during pregnancy. Discussion: Across these six themes, we discuss three instances of ethically consequential exaggeration and misrepresentation: 1) exaggeration about FASD rates in Indigenous communities; 2) contradiction between articles about the effects of prenatal alcohol exposure; and 3) scientifically accurate information that neglects the social context of alcohol use and abuse by women. Respectively, these representations could lead to harmful stereotyped beliefs about Indigenous peoples, might generate confusion about healthy choices during pregnancy, and may unhelpfully inflame debates about sensitive issues surrounding women’s choices. (shrink)

Impairments in emotional face processing are demonstrated by individuals with neurodevelopmental disorders, including autism spectrum disorder and attention-deficit/hyperactivity disorder, which is associated with altered emotion processing networks. Despite accumulating evidence of high rates of diagnostic overlap and shared symptoms between ASD and ADHD, functional connectivity underpinning emotion processing across these two neurodevelopmental disorders, compared to typical developing peers, has rarely been examined. The current study used magnetoencephalography to investigate whole-brain functional connectivity during the presentation of happy (...) and angry faces in 258 children, including ASD, ADHD and typically developing groups to determine possible differences in emotion processing. Data-driven clustering was also applied to determine whether the patterns of connectivity differed among diagnostic groups. We found reduced functional connectivity in the beta band in ASD compared to TD, and a further reduction in the ADHD group compared to the ASD and the TD groups, across emotions. A group-by-emotion interaction in the gamma frequency band was also observed. Greater connectivity to happy compared to angry faces was found in the ADHD and TD groups, while the opposite pattern was seen in ASD. Data-driven subgrouping identified two distinct subgroups: NDD-dominant and TD-dominant; these subgroups demonstrated emotion- and frequency-specific differences in connectivity. Atypicalities in specific brain networks were strongly correlated with the severity of diagnosis-specific symptoms. Functional connectivity strength in the beta network was negatively correlated with difficulties in attention; in the gamma network, functional connectivity strength to happy faces was positively correlated with adaptive behavioural functioning, but in contrast, negatively correlated to angry faces. Our findings establish atypical frequency- and emotion-specific patterns of functional connectivity between NDD and TD children. Data-driven clustering further highlights a high degree of comorbidity and symptom overlap between the ASD and ADHD children. (shrink)

The present study investigates procedural learning of motor sequences in children with developmental coordination disorder and/or developmental dyslexia, typically-developing children and healthy adults with a special emphasis on the role of the nature of stimuli and the neuropsychological functions associated to final performance of the sequence. Seventy children and ten adults participated in this study and were separated in five experimental groups: TD, DCD, DD, and DCD + DD children and adults. Procedural learning was assessed with a serial reaction time (...) task that required to tap on a specific key as accurately and quickly as possible when stimuli appeared on the screen. Three types of stimuli were proposed as cues: the classical version of the SRTT with 4 squares aligned horizontally on the screen, giving visuospatial cues, and two modified versions, with 4 letters aligned horizontally on the screen and letters at the center of the screen. Reaction times during the repeated and random blocks allowed assessing three phases of learning: global learning, specific learning and retention of the sequence. Learning was considered as completed when RT evolved significantly in the three phases. Neuropsychological assessment involved, among other functions, memory and attentional functions. Our main result was that learning and retention were not influenced by the available cues in adults whereas learning improved with specific cues in children with or without neurodevelopmental disorders. More precisely, learning was not completed with L cues in children with neurodevelopmental disorders. For children with DD, learning was completed with the VS and VS + L cues whereas for children with DCD, learning was completed with combined VS + L cues. Comorbidity between DD and DCD had no more impact on procedural learning than DCD alone. These results suggest that learning depends on the nature of cues available during practice and that cues allowing learning and retention depend on the type of disorder. Moreover, selective attention was correlated with RT during retention, suggesting that this neuropsychological function is important for procedural learning whatever the available cues. (shrink)

There is a high prevalence of comorbidity between neurodevelopmental disorders. Contemporary research of these comorbidities has led to the development of multifactorial theories of causation, including the multiple deficit model. While several combinations of disorders have been investigated, the nature of association between literacy and motor disorders remains poorly understood. Comorbid literacy and motor disorders were the focus of the two present studies. In Study 1, we examined the prevalence of comorbid literacy and motor difficulties (...) relative to isolated literacy and motor difficulties in a community sample. The prevalence of comorbidity was five times greater than expected by chance alone, implying some relationship between difficulties. In Study 2, we examined the cognitive profiles of children with literacy and motor disorders amongst a subsample of children from Study 1. Children with literacy disorder had deficits in phonological processing, selective attention, and memory whilst children with motor disorder had deficits in visuospatial processing and memory, suggesting the disorders should be considered to have both independent and shared cognitive risk factors. Children with comorbid literacy and motor disorder demonstrated an additive combination of these deficits. Together, these findings are consistent with predictions from the MDM. (shrink)

The present study aims to evaluate the distinct patterns of working memory capacity of children with Developmental Language Disorder, High-functioning children with Autism Spectrum Disorder and children with Down syndrome. More specifically, the current study investigates the complex relationship of fluid intelligence and WM between 39 children with DLD, 20 H igh-functioning children with ASD, and 15 children with DS. All children were evaluated in different measures of Phonological Working Memory, Visual-spatial Working Memory whereas Fluid Intelligence was measured with Raven (...) Progressive Matrices. The result analysis revealed a significant difference among the three groups, both among each function separately and the correlations among them, as well. The results revealed that the DLD groups and High-functioning ASD group exhibited a common picture or an overlap of performances in all Phonological and Visuo-spatial working memory measures, except Backward Digit Recall task. As for the DS group research findings revealed different and unique working memory patterns in comparison to DLD group and High-functioning ASD. Their differences have been studied and further conclusions have been drawn about the different patterns of working memory among the three clinical groups. The implications of these findings are discussed in light of support for learning. The common profile that characterize the two developmental conditions and the distinct pattern of working memory performance in DS group underlies the need for further research in the field. (shrink)

Developmental coordination disorder is a neurodevelopmental disorder that significantly impairs a child’s ability to learn motor skills and to perform everyday activities. The cause of DCD is unknown; however, evidence suggests that children with DCD have altered brain structure and function. While the cerebellum has been hypothesised to be involved in developmental coordination disorder, no studies have specifically examined cerebellar structure in this population. The purpose of our study was to examine cerebellar differences in children with DCD compared to (...) typically-developing children. Using voxel-based morphometry, we assessed cerebellar morphology in children 8–12 years of age. Forty-six children were investigated using high resolution T1-weighted images, which were then processed using the spatially unbiased atlas template of the cerebellum and brainstem toolbox for a region of interest-based examination of the cerebellum. Results revealed that children with DCD had reduced grey matter volume in several regions, namely: the brainstem, right/left crus I, right crus II, left VI, right VIIb, and right VIIIa lobules. Further, Pearson correlations revealed significant positive associations between the total motor percentile score on the Movement Assessment Battery for Children-2 and regions that had reduced grey matter volume in our cohort. These findings indicate that reductions in cerebellar grey matter volume are associated with poorer motor skills. Given the cerebellum’s involvement in internal models of movement, results of this study may help to explain why children with DCD struggle to learn motor skills. (shrink)

Alcohol consumption during pregnancy can lead to fetal alcohol spectrum disorders. FASD is a spectrum of structural, functional, and neurodevelopmental problems with often lifelong implications, affecting communities worldwide. It is a leading preventable form of intellectual disabilities and therefore warrants effective prevention approaches. However, well-intended FASD prevention can increase stigmatization of individuals with FASD, women who consume or have consumed alcohol during pregnancy, and non-biological parents and guardians of individuals with FASD. This narrative review surveyed the literature on (...) stigmatization related to FASD. Public stigma appears to be the most common form of stigma studied. Less is known about FASD-related self-stigma, stigma by association, and structural stigma. Accordingly, the current literature on FASD-related stigma does not appear to provide sufficient guidance for effectively reducing FASD-related stigma. However, lessons can be learned from other related health topics and the use of a systematic approach for the development of health promotion programs, namely Intervention Mapping. (shrink)

Fetal alcohol spectrum disorder is a multifaceted disability, characterized not only by brain- and body-based challenges, but also high rates of environmental adversity, lifelong difficulties with daily living, and distinct sociocultural considerations. FASD is one of the most common neurodevelopmental disabilities in the Western world and associated with significant social and economic costs. It is important to understand the complexities of FASD and the ways in which FASD requires unique consideration in research, practice, and policy. In this article, we (...) discuss our perspectives on factors that distinguish FASD from other disabilities in terms of complexity, co-occurrence, and magnitude. We provide an overview of select literature related to FASD as a socially rooted disability with intergenerational impacts and multiple layers of stigma. These social issues are intertwined with notable experiences of adversity across the lifespan and high rates of co-occurring health concerns for individuals with FASD, all of which present unique challenges for individuals, caregivers, families, service providers, and policy makers. Understanding these factors is the first step in developing and implementing specialized initiatives in support of positive outcomes for individuals with FASD and their families. Future directions are proposed for advancing research, practice, and policy, and responding to the unique complexities of FASD. (shrink)

Objectives“Attachment difficulties” is an umbrella term often used to describe various forms of non-secure attachment. Differentiating “attachment difficulties” from autism spectrum disorder and attention deficit hyperactivity disorder has been characterized as challenging. Few studies have explored how this happens in practice, from the perspective of professionals.DesignQualitative study.MethodsWe conducted in-depth semi-structured interviews with healthcare professionals from five NHS Foundation Trusts in the United Kingdom. Participants were recruited using a combination of snowballing, convenience and purposive sampling. Data were analyzed using a thematic (...) approach.ResultsWe identified six interrelated themes that might reflect difficulties with differential conceptualization. These include: a clinical lexicon of attachment; approaching attachment with caution; contextual factors; perceived characteristic behaviors; assessing attachment and adjacent supports; spotlighting intervention and dual conceptualization.ConclusionOur results indicate some of the ways suspicions around attachment are raised in practice. We advocate for more dialogue between research and practice communities on issues of differential conceptualization. We call for collaboration between a panel of experts consisting of attachment and neurodevelopmental orientated practitioners and researchers, to clarify issues around differentiating between attachment difficulties, ASD, and ADHD. (shrink)