Laura Beth Mann Dosier
Full Text Available Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as “rare disease,” but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader–Willi syndrome, Smith–Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.
Mirzaa, Ghayda M; Millen, Kathleen J; Barkovich, A James; Dobyns, William B; Paciorkowski, Alex R
The number of single genes associated with neurodevelopmental disorders has increased dramatically over the past decade. The identification of causative genes for these disorders is important to clinical outcome as it allows for accurate assessment of prognosis, genetic counseling, delineation of natural history, inclusion in clinical trials, and in some cases determines therapy. Clinicians face the challenge of correctly identifying neurodevelopmental phenotypes, recognizing syndromes, and prioritizing the best candidate genes for testing. However, there is no central repository of definitions for many phenotypes, leading to errors of diagnosis. Additionally, there is no system of levels of evidence linking genes to phenotypes, making it difficult for clinicians to know which genes are most strongly associated with a given condition. We have developed the Developmental Brain Disorders Database (DBDB: https://www.dbdb.urmc.rochester.edu/home), a publicly available, online-curated repository of genes, phenotypes, and syndromes associated with neurodevelopmental disorders. DBDB contains the first referenced ontology of developmental brain phenotypes, and uses a novel system of levels of evidence for gene-phenotype associations. It is intended to assist clinicians in arriving at the correct diagnosis, select the most appropriate genetic test for that phenotype, and improve the care of patients with developmental brain disorders. For researchers interested in the discovery of novel genes for developmental brain disorders, DBDB provides a well-curated source of important genes against which research sequencing results can be compared. Finally, DBDB allows novel observations about the landscape of the neurogenetics knowledge base. © 2014 Wiley Periodicals, Inc.
Kang, Peter B
The field of neurogenetics is moving so rapidly that new discoveries are announced almost weekly. The tools available for the diagnosis of neurogenetic disorders have become powerful and complex, and raise new ethical dilemmas that did not exist just a few years ago. In addition to previous concerns about presymptomatic genetic testing and carrier testing, the widening availability of next-generation sequencing raises concerns about the reporting of incidental findings of unclear significance. Genetically targeted therapies have now been proven to be efficacious for a few neurogenetic diseases, and it is likely that gene therapies and cell-based therapies will soon be applied to other neurologic disorders. These therapies are generally quite expensive compared to other treatments. Given the cost constraints that will be needed in the healthcare system in the United States and other countries, and the likelihood that new genetically targeted therapies will be introduced, society will face difficult questions regarding its obligations to fund expensive therapies both for large populations and for small numbers of patients with rare diseases. Potential conflicts of interest involving both individuals and institutions will need ongoing vigilance. Scientific advances will continue to raise consequential ethical questions in the field of neurogenetics. © 2013 Elsevier B.V. All rights reserved.
Giraud, Anne-Lise; Ramus, Franck
Dyslexia is a polygenic developmental reading disorder characterized by an auditory/phonological deficit. Based on the latest genetic and neurophysiological studies, we propose a tentative model in which phonological deficits could arise from genetic anomalies of the cortical micro-architecture in the temporal lobe. Copyright © 2012 Elsevier Ltd. All rights reserved.
Mehta, Sunil Q; Golshani, Peyman
Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social interactions, communication, and repetitive or restricted interests. There is strong evidence that de novo or inherited genetic alterations play a critical role in causing Autism Spectrum Disorders, but non-genetic causes, such as in utero infections, may also play a role. Magnetic resonance imaging based and autopsy studies indicate that early rapid increase in brain size during infancy could underlie the deficits in a large subset of subjects. Clinical studies show benefits for both behavioral and pharmacological treatment strategies. Genotype-specific treatments have the potential for improving outcome in the future. Published by Elsevier Inc.
Hyde, Luke W
The emerging field of neurogenetics seeks to model the complex pathways from gene to brain to behavior. This field has focused on imaging genetics techniques that examine how variability in common genetic polymorphisms predict differences in brain structure and function. These studies are informed by other complimentary techniques (e.g., animal models and multimodal imaging) and have recently begun to incorporate the environment through examination of Imaging Gene × Environment interactions. Though neurogenetics has the potential to inform our understanding of the development of psychopathology, there has been little integration between principles of neurogenetics and developmental psychopathology. The paper describes a neurogenetics and Imaging Gene × Environment approach and how these approaches have been usefully applied to the study of psychopathology. Six tenets of developmental psychopathology (the structure of phenotypes, the importance of exploring mechanisms, the conditional nature of risk, the complexity of multilevel pathways, the role of development, and the importance of who is studied) are identified, and how these principles can further neurogenetics applications to understanding the development of psychopathology is discussed. A major issue of this piece is how neurogenetics and current imaging and molecular genetics approaches can be incorporated into developmental psychopathology perspectives with a goal of providing models for better understanding pathways from among genes, environments, the brain, and behavior.
Chen, Christina; Van Horn, John Darrell
Examining sex differences in the brain has been historically contentious but is nonetheless important for advancing mental health for both girls and boys. Unfortunately, females in biomedical research remain underrepresented in most mental health conditions including autism spectrum disorders (ASD), even though equal inclusion of females would improve treatment for girls and yield benefits to boys. This review examines sex differences in the relationship between neuroanatomy and neurogenetics of ASD. Recent findings reveal that girls diagnosed with ASD exhibit more intellectual and behavioral problems compared to their male counterparts, suggesting that girls may be less likely diagnosed in the absence of such problems or that they require a higher mutational load to meet the diagnostic criteria. Thus far, the female biased effect of chromosome 4, 5p15.33, 8p, 9p24.1, 11p12-13, 15q, and Xp22.3 and the male biased effect of 1p31.3, 5q12.3, 7q, 9q33.3, 11q13.4, 13q33.3, 16p11.2, 17q11-21, Xp22.33/Yp11.31, DRD1, NLGN3, MAOA, and SHANK1 deletion have been discovered in ASD. The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD. These sex-related genetic factors may drive sex differences in the neuroanatomy of these girls and boys, including abnormal enlargement in temporal gray and white matter volumes, and atypical reduction in cerebellar gray matter volumes and corpus callosum fibers projecting to the anterior frontal cortex in ASD girls relative to boys. Such factors may also be responsible for the attenuation of brain sexual differentiation in adult men and women with ASD; however, much remains to be uncovered or replicated. Future research should leverage further the association between neuroanatomy and genetics in girls for an integrated and interdisciplinary understanding of ASD.
Kwon, Jennifer M; D'Aco, Kristin E
This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders caused by defects in pathways of intermediary metabolism. Disorders that are particularly likely to be seen by neurologists include those associated with defects in amino acid metabolism (organic acidemias, aminoacidopathies, urea cycle defects). Other disorders of small molecule metabolism are discussed as additional examples in which early treatments have the potential for better outcomes. Copyright © 2013 Elsevier Inc. All rights reserved.
Fogel, Brent L; Clark, Mary C; Geschwind, Daniel H
Although classic Parkinson disease is the disorder most commonly associated with the clinical feature of parkinsonism, there is in fact a broader spectrum of disease represented by a collection of phenotypically similar neurodegenerative conditions that mimic many of its core features. These atypical parkinsonian disorders most commonly include progressive supranuclear palsy and corticobasal degeneration, disorders both associated with frontotemporal dementia, as well as multiple system atrophy and dementia with Lewy bodies. Although the clinical distinction of these disorders still remains a challenge to physicians, recent advances in genetics are poised to tease apart the differences. Insights into the molecular etiologies underlying these conditions will improve diagnosis, yield a better understanding of the underlying disease pathology, and ultimately lend stimulation to the development of potential treatments. At the same time, the wide range of phenotypes observed from mutations in a single gene warrants broad testing facilitated by advances in DNA sequencing. These expanding genomic approaches, ranging from the use of next-generation sequencing to identify causative or risk-associated gene variations to the study of epigenetic modification linking human genetics to environmental factors, are poised to lead the field into a new age of discovery. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.
Pastores, Gregory M; Maegawa, Gustavo H B
The lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including hepatosplenomegaly and skeletal dysplasia. Onset of symptoms may range from birth to adulthood. Most are associated with neurologic features. Later-onset forms are often misdiagnosed as symptoms, which might include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Symptomatic care, which remains the mainstay for most subtypes, can lead to significant improvement in quality of life. Copyright © 2013 Elsevier Inc. All rights reserved.
Kabashi, Edor; Brustein, Edna; Champagne, Nathalie; Drapeau, Pierre
In this review, we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular, neural degeneration can be characterized at genetic, cellular, functional, and behavioral levels. Zebrafish have been used to knock down or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia, and Alzheimer's disease. More recently, we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia, and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus, zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics. This article is part of a Special Issue entitled Zebrafish Models of Neurological Diseases. Copyright Â© 2010 Elsevier B.V. All rights reserved.
Burgunder, J-M; Schöls, L; Baets, J; Andersen, P; Gasser, T; Szolnoki, Z; Fontaine, B; Van Broeckhoven, C; Di Donato, S; De Jonghe, P; Lynch, T; Mariotti, C; Spinazzola, A; Tabrizi, S J; Tallaksen, C; Zeviani, M; Harbo, H F; Finsterer, J
These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated. To collect data about planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed. The best level of evidence for genetic testing recommendation (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders, a precise description of the phenotype, including the use of immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence. © 2010 The Author(s). European Journal of Neurology © 2010 EFNS.
Blum, Kenneth; Oscar-Berman, Marlene; Badgaiyan, Rajendra D; Khurshid, Khurshid A; Gold, Mark S
It is well-known that sleep has a vital function especially as it relates to prevention of substance-related disorders as discussed in the DSM-V. We are cognizant that certain dopaminergic gene polymorphisms have been associated with various sleep disorders. The importance of "normal dopamine homeostasis" is tantamount for quality of life especially for the recovering addict. Since it is now know that sleep per se has been linked with metabolic clearance of neurotoxins in the brain, it is parsonomiuos to encourage continued research in sleep science, which should ultimately result in attenuation of sleep deprivation especially associated with substance related disorders.
Developmental coordination disorder can lead to: Learning problems Low self-esteem resulting from poor ability at sports and teasing by other children Repeated injuries Weight gain as a result of not wanting to participate ...
Mascheretti, S; De Luca, A; Trezzi, V; Peruzzo, D; Nordio, A; Marino, C; Arrigoni, F
Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results. More optimally reduced measures of functioning, that is, intermediate phenotypes (IPs), represent a target for researching disease-associated genetic variants and for elucidating the underlying mechanisms. Imaging data provide a viable IP for complex neurobehavioral disorders and have been extensively used to investigate both morphological, structural and functional brain abnormalities in DD. Performing joint genetic and neuroimaging studies in humans is an emerging strategy to link DD-candidate genes to the brain structure and function. A limited number of studies has already pursued the imaging–genetics integration in DD. However, the results are still not sufficient to unravel the complexity of the reading circuit due to heterogeneous study design and data processing. Here, we propose an interdisciplinary, multilevel, imaging–genetic approach to disentangle the pathways from genes to behavior. As the presence of putative functional genetic variants has been provided and as genetic associations with specific cognitive/sensorial mechanisms have been reported, new hypothesis-driven imaging–genetic studies must gain momentum. This approach would lead to the optimization of diagnostic criteria and to the early identification of ‘biologically at-risk’ children, supporting the definition of adequate and well-timed prevention strategies and the implementation of novel, specific remediation approach. PMID:28045463
Mascheretti, S; De Luca, A; Trezzi, V; Peruzzo, D; Nordio, A; Marino, C; Arrigoni, F
Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results. More optimally reduced measures of functioning, that is, intermediate phenotypes (IPs), represent a target for researching disease-associated genetic variants and for elucidating the underlying mechanisms. Imaging data provide a viable IP for complex neurobehavioral disorders and have been extensively used to investigate both morphological, structural and functional brain abnormalities in DD. Performing joint genetic and neuroimaging studies in humans is an emerging strategy to link DD-candidate genes to the brain structure and function. A limited number of studies has already pursued the imaging-genetics integration in DD. However, the results are still not sufficient to unravel the complexity of the reading circuit due to heterogeneous study design and data processing. Here, we propose an interdisciplinary, multilevel, imaging-genetic approach to disentangle the pathways from genes to behavior. As the presence of putative functional genetic variants has been provided and as genetic associations with specific cognitive/sensorial mechanisms have been reported, new hypothesis-driven imaging-genetic studies must gain momentum. This approach would lead to the optimization of diagnostic criteria and to the early identification of 'biologically at-risk' children, supporting the definition of adequate and well-timed prevention strategies and the implementation of novel, specific remediation approach.
Tanjala T. Gipson
Full Text Available Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin, and clinical trials for tuberous sclerosis complex (TSC, neurofibromatosis-1 (NF1 and fragile X syndrome (FXS, and phosphatase and tensin homolog hamartoma syndromes (PTHS, which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling. Methods. Pubmed and Clinicaltrials.gov were searched using specific search strategies. Results/Conclusions. Although traditionally thought of as irreversible disorders, significant scientific progress has been made in both humans and preclinical models to understand how pathologic features of these neurogenetic disorders can be reduced or reversed. This paper revealed significant similarities among the conditions. Not only do they share features of impaired synaptic plasticity and dysregulation of mTOR, but they also share clinical features—autism, intellectual disability, cutaneous lesions, and tumors. Although scientific advances towards discovery of effective treatment in some disorders have outpaced others, progress in understanding the signaling pathways that connect the entire group indicates that the lesser known disorders will become treatable as well.
Kabashi, Edor; Champagne, Nathalie; Brustein, Edna; Drapeau, Pierre
The advantage of zebrafish as a model to study human pathologies lies in the ease of manipulating gene expression in vivo. Here we focus on recent progress in our understanding of motor neuron diseases and neurodevelopmental disorders and discuss how novel technologies will permit further disease models to be developed. Together these advances set the stage for this simple functional model, with particular advantages for transgenesis, multigenic analyses and chemical biology, to become uniquely suited for advancing the functional genomics of neurological and possibly psychiatric diseases - from understanding the genetics and cell biology of degenerative and developmental disorders to the discovery of therapeutics. Copyright 2010 Elsevier Ltd. All rights reserved.
Jelena Kostić; Milkica Nešić; Jasminka Marković; Miodrag Stanković
Conduct disorder is a heterogeneous disorder in terms of etiology, course and prognosis, and currently, there is no singular model that would describe the development of the disorder. The results of empirical research on males confirm this heterogeneity, as they point out to two possible developmental pathways: childhood-onset and adolescentonset type. This paper presents the basic elements of developmental taxonomic theory which argues that there are two different developmental pathways to c...
Attention deficit/hyperactivity disorder (AD/HD) is a heterogeneous developmental disorder with an etiology that is not fully understood. AD/HD has been considered to occur due to a disturbance in cathecholaminergic neurotransmission, with particular emphasis on dopamine. The neurotransmission of dopamine in subcortical regions such as the basal ganglia and limbic areas is synaptic; on the other hand, dopamine neurotransmission in the frontal cortex is quite different, because there are very few dopamine transporters (DAT) in the frontal cortex that allow dopamine to diffuse away from the dopamine synapse ("volume transmission"). It is now clear that noradrenergic neurons play a key regulatory role in dopaminergic function in the frontal cortex. Furthermore, serotonergic neurons exert an inhibitory effect on midbrain dopamine cell bodies, and they have an influence on dopamine release in terminal regions. There is accumulating neurobiological evidence pointing toward a role of the serotonin system in AD/HD. The etiology of autism spectrum disorders (ASD) is still unclear, but information from genetics, neuropathology, brain imaging, and basic neuroscience has provided insights into the understanding of this developmental disorder. In addition to abnormal circuitry in specific limbic and neocortical areas of the cerebral cortex, impairments in brainstem, cerebellar, thalamic, and basal ganglia connections have been reported. Numerous studies have pointed to abnormalities in serotonin and glutamate neurotransmission. Three important aspects involved in the pathophysiology of ASD have been proposed. The first is cell migration, the second is unbalanced excitatory-inhibitory networks, and the third is synapse formation and pruning, the key factors being reelin, neurexin, and neuroligin. Serotonin is considered to play an important role in all of these aspects of the pathophysiology of ASD. Finally, I would like to emphasize that it is crucial in the field of child
These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.
Full Text Available Conduct disorder is a heterogeneous disorder in terms of etiology, course and prognosis, and currently, there is no singular model that would describe the development of the disorder. The results of empirical research on males confirm this heterogeneity, as they point out to two possible developmental pathways: childhood-onset and adolescentonset type. This paper presents the basic elements of developmental taxonomic theory which argues that there are two different developmental pathways to conduct disorder which have different causes and serve as the basis for the current typology of conduct disorders in the classification systems. Such a typology of conduct disorders in the diagnostic classification allows better understanding, prognosis and choice of treatment.
This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…
Cornejo-Olivas, Mario; Espinoza-Huertas, Keren; Velit-Salazar, Mario R; Veliz-Otani, Diego; Tirado-Hurtado, Indira; Inca-Martinez, Miguel; Silva-Paredes, Gustavo; Milla-Neyra, Karina; Marca, Victoria; Ortega, Olimpio; Mazzetti, Pilar
Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the clinical, scientific and ethical aspects regarding the development of this discipline, starting with the first molecular diagnosis of neurogenetic diseases, to family and population-based genetic association studies. Neurogenetics in Peru aims to better explain the epidemiology of monogenic and complex neurodegenerative disorders that will help in implementing public health policies for these disorders. The characterization of Peru and its health system, legal issues regarding rare diseases and the historical milestones in neurogenetics are also discussed.
Full Text Available A major challenge to the study and treatment of neurogenetic syndromes is accessing live neurons for study from affected individuals. Although several sources of stem cells are currently available, acquiring these involve invasive procedures, may be difficult or expensive to generate and are limited in number. Dental pulp stem cells (DPSCs are multipotent stem cells that reside deep the pulp of shed teeth. To investigate the characteristics of DPSCs that make them a valuable resource for translational research, we performed a set of viability, senescence, immortalization and gene expression studies on control DPSC and derived neurons. We investigated the basic transport conditions and maximum passage number for primary DPSCs. We immortalized control DPSCs using human telomerase reverse transcriptase (hTERT and evaluated neuronal differentiation potential and global gene expression changes by RNA-seq. We show that neurons from immortalized DPSCs share morphological and electrophysiological properties with non-immortalized DPSCs. We also show that differentiation of DPSCs into neurons significantly alters gene expression for 1305 transcripts. Here we show that these changes in gene expression are concurrent with changes in protein levels of the transcriptional repressor REST/NRSF, which is known to be involved in neuronal differentiation. Immortalization significantly altered the expression of 183 genes after neuronal differentiation, 94 of which also changed during differentiation. Our studies indicate that viable DPSCs can be obtained from teeth stored for ≥72 h, these can then be immortalized and still produce functional neurons for in vitro studies, but that constitutive hTERT immortalization is not be the best approach for long term use of patient derived DPSCs for the study of disease.
Urraca, Nora; Memon, Rawaha; El-Iyachi, Ikbale; Goorha, Sarita; Valdez, Colleen; Tran, Quynh T; Scroggs, Reese; Miranda-Carboni, Gustavo A; Donaldson, Martin; Bridges, Dave; Reiter, Lawrence T
A major challenge to the study and treatment of neurogenetic syndromes is accessing live neurons for study from affected individuals. Although several sources of stem cells are currently available, acquiring these involve invasive procedures, may be difficult or expensive to generate and are limited in number. Dental pulp stem cells (DPSCs) are multipotent stem cells that reside deep the pulp of shed teeth. To investigate the characteristics of DPSCs that make them a valuable resource for translational research, we performed a set of viability, senescence, immortalization and gene expression studies on control DPSC and derived neurons. We investigated the basic transport conditions and maximum passage number for primary DPSCs. We immortalized control DPSCs using human telomerase reverse transcriptase (hTERT) and evaluated neuronal differentiation potential and global gene expression changes by RNA-seq. We show that neurons from immortalized DPSCs share morphological and electrophysiological properties with non-immortalized DPSCs. We also show that differentiation of DPSCs into neurons significantly alters gene expression for 1305 transcripts. Here we show that these changes in gene expression are concurrent with changes in protein levels of the transcriptional repressor REST/NRSF, which is known to be involved in neuronal differentiation. Immortalization significantly altered the expression of 183 genes after neuronal differentiation, 94 of which also changed during differentiation. Our studies indicate that viable DPSCs can be obtained from teeth stored for ≥72 h, these can then be immortalized and still produce functional neurons for in vitro studies, but that constitutive hTERT immortalization is not be the best approach for long term use of patient derived DPSCs for the study of disease. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.
Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J; Larovere, Laura E; Yamada, Yasukazu; Nguyen, Khue V; Hegde, Madhuri; Visser, Jasper E; Schretlen, David J; Nyhan, William L; Puig, Juan G; O'Neill, Patrick J; Jinnah, H A
Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that influence genotype-phenotype correlations. The present study summarizes 615 known genetic mutations, their influence on the gene product, and their relationship to the clinical phenotype. In general, the results are compatible with the concept that the overall severity of the disease depends on how mutations ultimately influence enzyme activity. However, careful evaluation of exceptions to this concept point to several additional genetic and non-genetic factors that influence genotype-phenotype correlations. These factors are not unique to Lesch-Nyhan disease, and are relevant to most other genetic diseases. The disease therefore serves as a valuable model for understanding the challenges associated with establishing genotype-phenotype correlations for other disorders.
Computational Neurogenetic Modeling is a student text, introducing the scope and problems of a new scientific discipline - Computational Neurogenetic Modeling (CNGM). CNGM is concerned with the study and development of dynamic neuronal models for modeling brain functions with respect to genes and dynamic interactions between genes. These include neural network models and their integration with gene network models. This new area brings together knowledge from various scientific disciplines, such as computer and information science, neuroscience and cognitive science, genetics and molecular biol
Mercadante, M.T.; Gaag, R.J. van der; Schwartzman, J.S.
The category "Pervasive Developmental Disorders" includes autistic disorder, Asperger's syndrome, Rett's syndrome, childhood disintegrative disorder, and a residual category, named pervasive developmental disorder not otherwise specified. In this review, Rett's syndrome and childhood disintegrative
Uhlmann, Wendy R; Roberts, J Scott
Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results. There can be disclosure concerns and challenges in determining whose autonomy to prioritize when a patient makes a genetic testing decision that can reveal the genetic status of a relative (e.g., testing an adult child when the at-risk parent has not been tested). Ethical issues are prominent when genetic testing for neurogenetic conditions is requested prenatally, on minors, adoptees, adult children at 25% risk, and for individuals with psychiatric issues or cognitive impairment. Neurogenetic conditions can result in cognitive decline which can affect decisional capacity and lead to ethical challenges with decision making, informed consent, and determining the patient's ability to comprehend test results. The ethical implications of genetic testing and emerging issues, including direct-to-consumer genetic testing, disclosure of secondary findings from genomic sequencing, and use of apolipoprotein E testing in clinical and research settings, are also discussed. Resources for information about genetic testing practice guidelines, insurance laws, and directories of genetics clinics are included. Copyright © 2018 Elsevier B.V. All rights reserved.
Full Text Available A survey was undertaken to investigate the prevalence of high-functioning pervasive developmental disorder (HFPDD in a community sample of teenagers and adults aged 13 and above in the city of Sheffield, UK. 112 possible and definite cases were found, of whom 65 (57% had a previous diagnosis. The detected prevalence of possible or definite HFPDD was found to be 0.24 per 1000 of the population of Sheffield city aged 13 or over, but the prevalence by year of age fell from a maximum of 1.1 per 1000 in the group aged 13 to 14 years old (1 young adult in every 900 in this age group to 0.03 per 1000 in the over 60s (1 person in every 38500 in this age group. The results of this study are preliminary and need follow-up investigation in larger studies. We suggest several explanations for the findings, including reduced willingness to participate in a study as people get older, increased ascertainment in younger people, and increased mortality. Another contributory factor might be that the prevalence of high-functioning pervasive development disorder may decline with age. This raises the possibility that AS symptoms might become subclinical in adulthood in a proportion of people with HFPDD.
Sobrido, María-Jesús; Cacheiro, Pilar; Carracedo, Angel; Bertram, Lars
The importance for research and clinical utility of mutation databases, as well as the issues and difficulties entailed in their construction, is discussed within the Human Variome Project. While general principles and standards can apply to most human diseases, some specific questions arise when dealing with the nature of genetic neurological disorders. So far, publically accessible mutation databases exist for only about half of the genes causing neurogenetic disorders; and a considerable work is clearly still needed to optimize their content. The current landscape, main challenges, some potential solutions, and future perspectives on genetic databases for disorders of the nervous system are reviewed in this special issue of Human Mutation on neurogenetics. © 2012 Wiley Periodicals, Inc.
Scharff, Constance; Adam, Iris
Songbirds are a productive model organism to study the neural basis of auditory-guided vocal motor learning. Like human babies, juvenile songbirds learn many of their vocalizations by imitating an adult conspecific. This process is a product of genetic predispositions and the individual's life experience and has been investigated mainly by neuroanatomical, physiological and behavioral methods. Results have revealed general principles governing vertebrate motor behavior, sensitive periods, sexual dimorphism, social behavior regulation and adult neurogenesis. More recently, the emerging field of birdsong neurogenetics has advanced the way we think about genetic contributions to communication, mechanistically and conceptually. Copyright © 2012 Elsevier Ltd. All rights reserved.
Haworth, Andrea; Bertram, Lars; Carrera, Paola; Elson, Joanna L; Braastad, Corey D; Cox, Diane W; Cruts, Marc; den Dunnen, Johann T; Farrer, Matthew J; Fink, John K; Hamed, Sherifa A; Houlden, Henry; Johnson, Dennis R; Nuytemans, Karen; Palau, Francesc; Rayan, Dipa L Raja; Robinson, Peter N; Salas, Antonio; Schüle, Birgitt; Sweeney, Mary G; Woods, Michael O; Amigo, Jorge; Cotton, Richard G H; Sobrido, Maria-Jesus
The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the "Neurogenetics Consortium" under the umbrella of the Human Variome Project. The Consortium's founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource.
Kaufmann, Walter E
Increasing knowledge on genetic etiology of pediatric neurologic disorders is affecting the practice of the specialty. I reviewed here the history of pediatric neurologic disorder classification and the role of genetics in the process. I also discussed the concept of clinical neurogenetics, with its role in clinical practice, education, and research. Finally, I propose a flexible model for clinical neurogenetics in child neurology in the twenty-first century. In combination with disorder-specific clinical programs, clinical neurogenetics can become a home for complex clinical issues, repository of genetic diagnostic advances, educational resource, and research engine in child neurology.
A child's popularity is often related to his or her proficiency in sports and games, and children value physical competence highly. The movement difficulties of children with developmental coordination disorder (DCD) often invite ridicule from their peers. Children with DCD have a poor motor
Full Text Available Abstract Background Attention Deficit/Hyperactivity Disorder (ADHD, formerly regarded as a typical childhood disorder, is now known as a developmental disorder persisting over the lifespan. Starting in preschool-age, symptoms vary depending on the age group affected. Method According to the variability of ADHD-symptoms and the heterogeneity of comorbid psychiatric disorders, a broad review of recent studies was performed. These findings were summarized in a developmental psychopathological model, documenting relevant facts on a timeline. Results Based on a genetic disposition and a neuropsychological deregulation, there is evidence for factors which persist across the lifespan, change age-dependently, or show validity in a specific developmental phase. Qualitative changes can be found for children in preschool-age and adults. Conclusion These differences have implications for clinical practice as they can be used for prevention, diagnostic proceedings, and therapeutic intervention as well as for planning future studies. The present article is a translated and modified version of the German article "Entwicklungspsychopathologie der ADHS", published in Zeitschrift für Psychiatrie, Psychologie und Psychotherapie, 56, 2008, S. 265-274.
Schmidt, Sören; Petermann, Franz
Attention Deficit/Hyperactivity Disorder (ADHD), formerly regarded as a typical childhood disorder, is now known as a developmental disorder persisting over the lifespan. Starting in preschool-age, symptoms vary depending on the age group affected. According to the variability of ADHD-symptoms and the heterogeneity of comorbid psychiatric disorders, a broad review of recent studies was performed. These findings were summarized in a developmental psychopathological model, documenting relevant facts on a timeline. Based on a genetic disposition and a neuropsychological deregulation, there is evidence for factors which persist across the lifespan, change age-dependently, or show validity in a specific developmental phase. Qualitative changes can be found for children in preschool-age and adults. These differences have implications for clinical practice as they can be used for prevention, diagnostic proceedings, and therapeutic intervention as well as for planning future studies. The present article is a translated and modified version of the German article "Entwicklungspsychopathologie der ADHS", published in Zeitschrift für Psychiatrie, Psychologie und Psychotherapie, 56, 2008, S. 265-274.
Meera Suresh Joshi
Full Text Available BACKGROUND In India, an estimated 1.5-2.5% children below 2 years of age are developmentally delayed. A higher incidence of ocular disability is seen in these children, refractive errors and strabismus being most common. These can add to the overall burden of health as most of them have developmental comorbidities. The aim of the study is to study the ocular disorders in children with developmental delay. MATERIALS AND METHODS We studied 112 children between the 2-12 years of age diagnosed to have developmental delay. All the subjects underwent a detailed ophthalmic evaluation including visual acuity testing using Snellen’s charts (3m and 6m and Log MAR charts (recorded as per Snellen’s vision testing to maintain uniformity, cycloplegic refraction, torchlight and slit-lamp evaluation and dilated fundus examination. The data was tabulated and represented using bar diagrams, Pie charts and graphs. The results were expressed as percentages. Design-Cross-sectional, observational study. RESULTS 66 boys and 46 girls (total 112 were evaluated. The mean age of the study population was 7.8 years ± 2.4 SD. The aetiology of developmental delay was cerebral palsy (64%, Down syndrome (22%, autism (7%, intellectual disability (4.5% and 1 case each of congenital hypothyroidism and ataxia telangiectasia. The prevalence of ocular disorders was found to be 84.8%, which was slightly higher in girls (87% as compared to boys (83%. Refractive error (79.5% was the commonest ocular disorder followed by strabismus (46.4%. Astigmatism (44.6% was the commonest refractive error, which was divided into myopic astigmatism (19.6%, hyperopic astigmatism (13.8% and mixed astigmatism (11.2%. Simple hyperopia was seen in 21.9% subjects and simple myopia in 12.1%. Exotropia (52% was commoner than esotropia (48%. Other ocular abnormalities included optic atrophy, nystagmus, epicanthal folds, cataract, mongoloid slant, ptosis, telecanthus, conjunctival telangiectasia and
Savvateeva-Popova, E V; Nikitina, E A; Medvedeva, A V
"Genetics of behavior," or "Neurogenetics," is based on the evolutionary ideas of T. Dobzhansky on brain development and behavior. It continues with the "experimental genetics of higher nervous activity" of I. Pavlov and uses a comparative approach in the study of heredity and variation in behavioral manifestations, from Protozoa to humans. The study of the classical Pavlovian conditioned reflex in mutant Drosophila helped to identify the main types of memory and their evolutionary conservatism. Long-term memory defects are caused by mutations of the same genes as in mental, retardation in humans, when signaling cascades intersecting with the cAMP-dependent pathway are damaged. The cascade of actin remodeling is also among these. The key enzyme, LIM-kinase 1, controls cognitive manifestations of the "genomic disease" Williams deletion syndrome. Its study resulted in the recognition of neuroepigenetics as an interface between the genome and environmental influences. Epigenetic factors of "variability"--DNA methylation, histone acetylation, and microRNA regulation--do not change the structure of the gene but its manifestations. Certain miRNAs have already been considered to be both biomarkers for neurodegenerative diseases and factors of the intergenerational transmission of the behaviorial properties of ancestors who experienced stress from adverse environmental influences.
Sandfeld, L.N.; Jensen, H.; Skov, L.
PURPOSE: To identify diagnoses that increase the risk of ophthalmic disorders in developmentally delayed children. METHODS: A cross-sectional study of 1126 Danish children with developmental delay (IQ Udgivelsesdato: 2008/12......PURPOSE: To identify diagnoses that increase the risk of ophthalmic disorders in developmentally delayed children. METHODS: A cross-sectional study of 1126 Danish children with developmental delay (IQ Udgivelsesdato: 2008/12...
Rost, Natalia S
The field of neurogenetics has been revolutionized by the advances in genome-wide association testing. Recent gene discoveries for disorders of neurodegeneration, CNS demyelination, and neurodevelopmental and cerebrovascular syndromes begin to shape our understanding of the complexity of their underlying genetic architecture. In the future, this knowledge should advance risk prediction, prevention, diagnosis, and treatment strategies for patients with neurologic disorders and their families.
Tateno, Masaru; Ikeda, Hiroshi; Saito, Toshikazu
Pervasive developmental disorders (PDD) are characterized by two essential symptoms: impairment in social interaction, and restricted, repetitive, and stereotyped patterns of behavior, interests, and activities. PDD include autistic disorder, Asperger's disorder, and PDD-Not Otherwise Specified (PDD-NOS). These three disorders are sometimes termed autism spectrum disorders. A recent epidemiological survey demonstrated that the rate of PDD may be almost 1% and that many PDD cases might not be diagnosed properly in childhood. Erik Erikson described eight stages of psychosocial development through which a normally developing human should pass from infancy to adulthood. In the theory, an adolescent shows 'Identity vs. Role Confusion'. It has been reported that individuals with PDD often have identity crises which sometimes include gender dysphoria. This phenomenon might be related to the so-called identity diffusion in youth. When they reach their young youth, it has been said that subjects with PDD realize their uniqueness and differences compared to others, and, as a result, they may develop confusion of identity which could be exhibited as gender identity disorder. A recent study demonstrated that, amongst 204 children and adolescents who visited a GID clinic in the Netherlands, 7.8% were diagnosed with autism spectrum disorders after a careful diagnostic procedure by a multi-disciplinary team. Taken together, PDD and GID seem closely related to each other. In this paper, we present four PDD cases with gender dysphoria and related symptoms: 1) a girl with PDD who repeatedly asserted gender identity disorder (GID) symptoms in response to social isolation at school, 2) a junior high school boy with PDD and transvestism, 3) a boy diagnosed with Asperger's disorder who developed a disturbance of sexual orientation, and 4) a boy with Asperger's disorder and comorbid childhood GID. Many of the clinical symptoms related to gender dysphoria might be explained by the
Background: Pervasive Developmental Disorder (PDD) is a diagnostic term covering a group of neuropsychiatric disorders marked by a core triad of impairments consisting of qualitative disturbances in social interaction and communication, and by stereotypical behaviour. Some children diagnosed...
Brief, Elana; Illes, Judy
Neurogenetics promises rich insights into how the mind works. Researchers investigating the range of topics from normal brain functioning to pathological states are increasingly looking to genetics for clues on human variability and disease etiology. Is it fair to assume this interest in neurogenetics is universal? How should researchers and clinicians approach ideas of consent to research or prediction of disease when a subject or patient understands the mind with concepts or language incompatible with neurogenetics? In this paper we consider how non-Western philosophies bring complexity to ideas of individual and community consent and confidentiality in the context of neurogenetics. Copyright © 2010 Elsevier Inc. All rights reserved.
McMorris, Carly A.; Perry, Adrienne
The Pervasive Developmental Disorder Behavior Inventory is a questionnaire designed to aid in the diagnosis of pervasive developmental disorders or autism spectrum disorders. The Pervasive Developmental Disorder Behavior Inventory assesses adaptive and maladaptive behaviors associated with pervasive developmental disorders and provides an…
Reinersmann, Annika; Lücke, Thomas
Our body is both, the object experiencing the world and the subject of our self- experience. As an object, the body provides sensory information via the bodily surface, which is processed and integrated into a coherent representation of the body, the body schema. This representation is considered to form a crucial structure underlying bodily self-identification. The process of integrating multimodal information into a coherent body representation has received extensive research interest with the aim to further clarify its neuronal correlates and functioning in health and disease. However, little is known about the ontogenetic functioning of body schema or multisensory integration processing and their role in the development of socio-emotional in children. This narrative overview discusses implication of a dysfunctional body schematic functioning for socio-emotional competencies. A general introduction on body schematic processes is followed by a narrative review of current findings on the maturation of the body schema and multisensory integration. We finally outline implications for the self- and socio-emotional development in children and discuss possible implications for a role of disrupted body schema functions in developmental disorders. © Georg Thieme Verlag KG Stuttgart · New York.
Shimabukuro, Satoshi; Shimoji, Takeyoshi; Sugama, Seiichi
We reported 50 cases of mild to moderate trigonocephaly (most isolated type) treated by cranioplasty. All of them had clinical symptoms such as severe hyperactivity, speech delay, inability to communicate with others, self-mutilation (head banging), irritability, temper tantrum and mental retardation. Pre-operative CT scan and MRI showed no abnormal findings in the brain except for constricted frontal lobes. The 3D-CT scan showed the most important diagnostic findings: a ridge of the metopic suture and narrow anterior fossa. TcECD SPECT was performed on 43 patients, and demonstrated in 31 cases some degree of decreased cerebral blood flow (CBF), mainly in the bilateral frontal lobes. Post-operatively, most patients improved to some degrees. The results were compared to those of trigonocephaly patients without cranioplasty. The operated group showed better improvement in the above clinical symptoms, especially, hyperactivity, indifference to others, understanding of verbal communication, self-mutilation, irritability and temper tantrum. The post-operative SPECT represented the increased CBF in 30 out of the 31 cases. MRI and CT scan revealed expanded frontal lobes. Thus, cranioplasty may alleviate the symptoms of patients with mild to moderate trigonocephaly and developmental disorders. (author)
Shimabukuro, Satoshi; Shimoji, Takeyoshi [Okinawa Prefectural Naha Hospital (Japan); Sugama, Seiichi
We reported 50 cases of mild to moderate trigonocephaly (most isolated type) treated by cranioplasty. All of them had clinical symptoms such as severe hyperactivity, speech delay, inability to communicate with others, self-mutilation (head banging), irritability, temper tantrum and mental retardation. Pre-operative CT scan and MRI showed no abnormal findings in the brain except for constricted frontal lobes. The 3D-CT scan showed the most important diagnostic findings: a ridge of the metopic suture and narrow anterior fossa. TcECD SPECT was performed on 43 patients, and demonstrated in 31 cases some degree of decreased cerebral blood flow (CBF), mainly in the bilateral frontal lobes. Post-operatively, most patients improved to some degrees. The results were compared to those of trigonocephaly patients without cranioplasty. The operated group showed better improvement in the above clinical symptoms, especially, hyperactivity, indifference to others, understanding of verbal communication, self-mutilation, irritability and temper tantrum. The post-operative SPECT represented the increased CBF in 30 out of the 31 cases. MRI and CT scan revealed expanded frontal lobes. Thus, cranioplasty may alleviate the symptoms of patients with mild to moderate trigonocephaly and developmental disorders. (author)
Castles, Anne; Kohnen, Saskia; Nickels, Lyndsey; Brock, Jon
The discipline of cognitive neuropsychology has been important for informing theories of cognition and describing the nature of acquired cognitive disorders, but its applicability in a developmental context has been questioned. Here, we revisit this issue, asking whether the cognitive neuropsychological approach can be helpful for exploring the nature and causes of developmental disorders and, if so, how. We outline the key features of the cognitive neuropsychological approach, and then consider how some of the major challenges to this approach from a developmental perspective might be met. In doing so, we distinguish between challenges to the methods of cognitive neuropsychology and those facing its deeper conceptual underpinnings. We conclude that the detailed investigation of patterns of both associations and dissociations, and across both developmental and acquired cases, can assist in describing the cognitive deficits within developmental disorders and in delineating possible causal pathways to their acquisition.
Schoemaker, M.M.; van der Wees, M.; Flapper, B.; Verheij-Jansen, N.; Scholten-Jaegers, S.; Geuze, R.H.
The aim of this study was to investigate whether children with a Developmental Coordination Disorder (DCD) experience problems in the processing of visual, proprioceptive or tactile information. Different aspects of visual perception were tested with the Developmental Test of Visual Perception
Friedreich ataxia is the most common autosomal recessive ataxia. It is a progressive neurodegenerative disorder, typically with onset before 20 years of age. Signs and symptoms include progressive ataxia, ascending weakness and ascending loss of vibration and joint position senses, pes cavus, scoliosis, cardiomyopathy, and arrhythmias. There are no disease-modifying medications to either slow or halt the progression of the disease, but research investigating therapies to increase endogenous frataxin production and decrease the downstream consequences of disrupted iron homeostasis is ongoing. Clinical trials of promising medications are underway, and the treatment era of Friedreich ataxia is beginning. Copyright © 2013 Elsevier Inc. All rights reserved.
Rost, Natalia S
Understanding the genetic architecture of cerebrovascular disease holds promise of novel stroke prevention strategies and therapeutics that are both safe and effective. Apart from a few single-gene disorders associated with cerebral ischemia or intracerebral hemorrhage, stroke is a complex genetic phenotype that requires careful ascertainment and robust association testing for discovery and validation analyses. The recently uncovered shared genetic contribution between clinically manifest stroke syndromes and closely related intermediate cerebrovascular phenotypes offers effective and efficient approaches to complex trait analysis. Copyright © 2013 Elsevier Inc. All rights reserved.
of children presenting with features of ASD to a developmental clinic in Johannesburg over ... social interaction deficits without meeting the full criteria for PDD were excluded, as were those ..... Recurrent otitis media. 7 (12.1). Myringotomies.
Spindler, Ulrike Petra; Hotopp, Lena Charlott; Bach, Vivien Angela; Hornemann, Frauke; Syrbe, Steffen; Andreas, Anna; Merkenschlager, Andreas; Kiess, Wieland; Bernhard, Matthias Karl; Bertsche, Thilo; Neininger, Martina Patrizia; Bertsche, Astrid
Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed. Parents of children with both seizure disorder and intellectual disability stated the highest constraints in daily life, regarding friends, hobbies, emotional pressure, occupation, partnership, habitation, and financial burden. Due to diagnosis of seizure or developmental disorder, 155/307 (51%) parents reduced their working hours/stopped working, 62/307 (20%) changed their habitation, and 46/307 (15%) broke up. As judged by parents, 148/317 (47%) children are being discriminated against, even own family/friends and educators are held responsible. Parents perceive changes in their daily life and discrimination of their children due to their children's seizure and developmental disorders. An intellectual disability combined with seizure disorder caused the highest constraint. What is Known: • Seizure and/or developmental disorders of children may adversely influence quality of life for affected parents. • Caring for a child with special health care needs can take complete attention and own parental needs may therefore be difficult to meet. What is New: • Two out of three parents stated changes of their daily life such as quitting work, change of habitation, or breakup of partnership due to their child's diagnosis. • As judged by the parents, one in two children with
Mazzetti, Pilar; Inca-Martínez, Miguel; Tirado-Hurtado, Indira; Milla-Neyra, Karina; Silva-Paredes, Gustavo; Vishnevetsky, Anastasia; Cornejo-Olivas, Mario
Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntingtons Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD. Research in other monogenic diseases led to the implementation of alternative methodologies for the genotyping of Fragile X and Myotonic Dystrophy Type 1. Both, national and international collaborative efforts have facilitated the discovery of new genetic variants in complex multigenic diseases such as Parkinsons disease and Alzheimers disease. Additionally, multidisciplinary education and mentoring have allowed for the training of new neurogenetics specialists, supporting the sustained growth of the discipline in the country. The promotion of research in Peru has spurred the growth of neurogenetics research, although limitations in infrastructure, technology, and education remain a challenge for the further growth of research in this field.
The level and nature of emotional upheaval and relationship to developmental stage was studied in children with pervasive developmental disorder (PDD) hospitalized for head injury. The sample consisted of 25 hospitalized children aged 5-12 years. Children were asked to make the drawing of a ;person in hospital'. The drawings were evaluated by Koppitz's emotional indicators. Punishment and persecution were the main cognitive constructs of children in order to explain hospitalization.
Demers, Catherine H; Bogdan, Ryan; Agrawal, Arpana
Addictions are prevalent psychiatric disorders that confer remarkable personal and social burden. Despite substantial evidence for their moderate, yet robust, heritability (approx. 50%), specific genetic mechanisms underlying their development and maintenance remain unclear. The goal of this selective review is to highlight progress in unveiling the genetic underpinnings of addiction. First, we revisit the basis for heritable variation in addiction before reviewing the most replicable candidate gene findings and emerging signals from genomewide association studies for alcohol, nicotine and cannabis addictions. Second, we survey the modest but growing field of neurogenetics examining how genetic variation influences corticostriatal structure, function, and connectivity to identify neural mechanisms that may underlie associations between genetic variation and addiction. Third, we outline how extant genomic findings are being used to develop and refine pharmacotherapies. Finally, as sample sizes for genetically informed studies of addiction approach critical mass, we posit five exciting possibilities that may propel further discovery (improved phenotyping, rare variant discovery, gene-environment interplay, epigenetics, and novel neuroimaging designs).
The radiation sensitivity of the brain of a growing fetus is higher than that of other organs and tissues. Of the various organs in the human body, the brain has the most complicated structure. The major features of developmental disorders of the brain, which are produced rather easily by external causes, are: (a) the sensitive period for developmental disorders is long, (b) undifferentiated nerve cells are sensitive to external causes and (c) such disorders leads to irreversible functional failures after birth. The malformation of the brain and its relations with the sensitivity are briefly described. Experiments with prenatal animals have shown that major developmental disorders of brain tissue include death of undifferentiated cells, lack of constituent neurons and disturbance in structure of the cortex, and that typical developmental abnormalities include dysgenetic hydrocephaly, microcephalia, etc. Teratological features of histogenetic disorders of the brain are then briefly outlined. Various experimental results on these and other disorders caused by radiations are presented and discussed. Data on fetuses exposed to radiations at Hiroshima and Nagasaki are also given and discussed. The last section of the report deals with risk evaluation. (Nogami, K.)
Reich, D B; Zanarini, M C
This study examined whether patients with borderline personality disorder and controls with other personality disorders remember their childhoods differently with respect to separation difficulties, evocative memory, temperamental factors such as frustration tolerance and mood reactivity, and onset of symptoms. Two hundred and ninety patients with borderline personality disorder and 72 with other personality disorders were assessed using an instrument to rate memories of separation difficulties, temperamental problems, and onset of symptoms before age 18. Patients with borderline personality disorder remembered more difficulties with separation between ages 6 and 17 years, more mood reactivity and poorer frustration tolerance between ages 6 and 17, and the onset of more symptoms (most prominently sadness, depression, anxiety, and suicidality) before age 18 than did patients with other personality disorders. The groups did not differ in reports of evocative memory before age 18. These results indicate that many of the features of adult patients with borderline personality disorder may initially appear during childhood and adolescence and that these features may be used to differentiate borderline from other personality disorders.
Autism Spectrum Disorder (ASD); Autism; Autistic Disorder; Asperger's Disorder; Asperger's; Pediatric Autism; Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS); Pervasive Child Development Disorder
Grandy, John K.
The neurogenetic correlates of consciousness (NgCC) is a new field of consciousness studies that focuses on genes that have an effect on or are involved in the continuum of neuron-based consciousness. A framework of consciousness based on the neural correlates of consciousness (NCC) has already been established by Francis Crick and Christof Kock. In this work I propose that there are NgCC underlying the NCC which are both active during the conscious experience. So how are genes involved? There are two significant connections between DNA and neurons that are involved in the conscious experience. First, any brain system can be adversely affected by underlying genetic abnormalities which can be expressed in an individual at birth, in adulthood, or later in life. Second, the DNA molecule does not lay dormant while the neuron runs on autopilot. DNA is active in translating and transcribing RNA and protein products that are utilized during neuron functioning. Without these products being continuously produced by the DNA during a conscious experience the neurons would cease to function correctly and be rendered unable to provide a continuum of human consciousness. Consequently, in addition to NCC, NgCC must be factored in when appreciating a conscious event. In this work I will discuss and explain some NgCC citing several examples.
Rakhlin, Natalia; Kornilov, Sergey A.; Grigorenko, Elena L.
Two experiments tested whether Russian-speaking children with Developmental Language Disorder (DLD) are sensitive to gender agreement when performing a gender decision task. In Experiment 1, the presence of overt gender agreement between verbs and/or adjectival modifiers and postverbal subject nouns memory was varied. In Experiment 2, agreement…
Wahi, Gita; LeBlanc, Paul J.; Hay, John A.; Faught, Brent E.; O'Leary, Debra; Cairney, John
Children with developmental coordination disorder (DCD) have higher rates of obesity compared to children with typical motor development, and, as a result may be at increased risk for developing metabolic syndrome (MetS). The purpose of this study was to determine the presence of MetS and its components among children with and without DCD. This…
Physically awkward children face a host of difficulties, which include difficulties in the school environment. Therefore, it is important to identify Developmental Coordination Disorder (DCD) early in a child's life to allow for proper and timely intervention and support. The objective of this study was to determine the prevalence ...
Purcell, Catherine; Wann, John P.; Wilmut, Kate; Poulter, Damian
As pedestrians, the perceptual ability to accurately judge the relative rate of approaching vehicles and select a suitable crossing gap requires sensitivity to looming. It also requires that crossing judgments are synchronized with motoric capabilities. Previous research has suggested that children with Developmental Co-ordination Disorder (DCD)…
Schott, Nadja; Alof, Verena; Hultsch, Daniela; Meermann, Dagmar
The protective effects of physical activity and fitness on cardiovascular health have clearly been shown among normally developed children. However, data are currently lacking pertaining to children with developmental coordination disorder (DCD). The purpose of this study was to examine differences in fitness measures, body composition, and…
Chen, I-Chen; Tsai, Pei-Luen; Hsu, Yung-Wen; Ma, Hui-Ing; Lai, Hsuan-An
Children with developmental coordination disorder (DCD) have deficits in working memory, but little is known about the everyday memory of these children in real-life situations. We investigated the everyday memory function in children with DCD, and explored the specific profile of everyday memory across different domains. Nineteen children with…
Wagner, Matthias Oliver; Kastner, Julia; Petermann, Franz; Jekauc, Darko; Worth, Annette; Bos, Klaus
Developmental coordination disorder (DCD) as well as overweight and obesity are of increasing importance in the study of human development. Data on the relation between DCD and obesity in adolescence are of particular interest because both phenomena are unlikely to disappear with age. The objective of this study was to determine the impact of…
Guest, Francesca L; Guest, Paul C
Over the last few decades, evidence has emerged that the pathogenesis of psychiatric disorders such as schizophrenia can involve perturbations of the hypothalamic-pituitary-adrenal (HPA) axis and other neuroendocrine systems. Variations in the manifestation of these effects could be related to differences in clinical symptoms between affected individuals and to differences in treatment response. Such effects can also arise from the complex interaction between genes and environmental factors. Here, we review the effects of maternal stress on abnormalities in HPA axis regulation and the development of psychiatric disorders such as schizophrenia. Studies in this area may prove critical for increasing our understanding of the multidimensional nature of mental disorders and could lead to the development of improved diagnostics and novel therapeutic approaches for treating individuals who suffer from these conditions.
Zoghbi, Huda Y; Warren, Stephen T
There can be little doubt that genetics has transformed our understanding of mechanisms mediating brain disorders. The last two decades have brought tremendous progress in terms of accurate molecular diagnoses and knowledge of the genes and pathways that are involved in a large number of neurological and psychiatric disorders. Likewise, new methods and analytical approaches, including genome array studies and "next-generation" sequencing technologies, are bringing us deeper insights into the subtle complexities of the genetic architecture that determines our risks for these disorders. As we now seek to translate these discoveries back to clinical applications, a major challenge for the field will be in bridging the gap between genes and biology. In this Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last two decades and highlight the challenges as well as the exciting opportunities for the future. Copyright © 2010 Elsevier Inc. All rights reserved.
Full Text Available Early recognition of developmental disorders is an important goal, and equally important is avoiding misdiagnosing a disorder in a healthy child without pathology. The aim of the present study was to develop an artificial neural network using perinatal information to predict developmental disorder at infancy. A total of 1,232 mother–child dyads were recruited from 6,150 in the original data of Karaj, Alborz Province, Iran. Thousands of variables are examined in this data including basic characteristics, medical history, and variables related to infants. The validated Infant Neurological International Battery test was employed to assess the infant’s development. The concordance indexes showed that true prediction of developmental disorder in the artificial neural network model, compared to the logistic regression model, was 83.1% vs. 79.5% and the area under ROC curves, calculated from testing data, were 0.79 and 0.68, respectively. In addition, specificity and sensitivity of the ANN model vs. LR model was calculated 93.2% vs. 92.7% and 39.1% vs. 21.7%. An artificial neural network performed significantly better than a logistic regression model.
Crowell, Sheila E; Kaufman, Erin A
Over the past 2 decades there has been a dramatic shift in understanding of personality disorders, such as borderline personality disorder (BPD). What was historically viewed as an entrenched pattern of antagonistic, interpersonally dependent, and uncorrectable conduct is now seen as the outcome of complex-yet modifiable-developmental processes. The borderline label, which once inspired such harsh opprobrium in clinical communities that early diagnosis was considered taboo, is now increasingly applied to adolescents who are receiving effective treatment and desisting from a borderline trajectory. Research examining the developmental origins and early manifestations of BPD is increasing rapidly, making it an appropriate time to take stock of current developmental research and articulate an agenda for the future. We identify 4 challenges that continue to impede innovative research on borderline personality development: (a) inadequate attention to continuity and discontinuity across development, (b) medical and diagnostic systems that localize personality pathology within the individual, (c) the lingering belief that biological research is antithetical to contextual/interpersonal understandings of psychopathology (and vice versa), and (d) reluctance to reach across disciplinary and developmental boundaries to identify creative paradigms and foster innovative discovery. In order to overcome these challenges, we propose an approach to future research on adolescent borderline pathology that integrates developmental psychopathology, social and affective neuroscience, and personality theory perspectives. This intersection-the developmental neuroscience of personality pathology-offers theoretical and methodological advantages over disciplinary isolation and is fertile ground for generating novel hypotheses on the development and prevention of BPD. (PsycINFO Database Record (c) 2016 APA, all rights reserved).
William Howard James Norton
Full Text Available Psychiatric disorders are a diverse set of diseases that affect all aspects of mental function including social interaction, thinking, feeling and mood. Although psychiatric disorders place a large economic burden on society, the drugs available to treat them are often palliative with variable efficacy and intolerable side-effects. The development of novel drugs has been hindered by a lack of knowledge about the etiology of these diseases. It is thus necessary to further investigate psychiatric disorders using a combination of human molecular genetics, gene-by-environment studies, in vitro pharmacological and biochemistry experiments, animal models and investigation of the non-biological basis of these diseases, such as environmental effects.Many psychiatric disorders, including autism spectrum disorder, attention-deficit/hyperactivity disorder, mental retardation and schizophrenia can be triggered by alterations to neural development. The zebrafish is a popular model for developmental biology that is increasingly used to study human disease. Recent work has extended this approach to examine psychiatric disorders as well. However, since psychiatric disorders affect complex mental functions that might be human specific, it is not possible to fully model them in fish. In this review, I will propose that the suitability of zebrafish for developmental studies, and the genetic tools available to manipulate them, provide a powerful model to study the roles of genes that are linked to psychiatric disorders during neural development. The relative speed and ease of conducting experiments in zebrafish can be used to address two areas of future research: the contribution of environmental factors to disease onset, and screening for novel therapeutic compounds.
Menz, Stacy M; Hatten, Kristin; Grant-Beuttler, Marybeth
Children with developmental coordination disorder (DCD) demonstrate difficulty with feedforward motor control and use varied compensatory strategies. To examine gross motor function changes following strength training in a child with motor control difficulties. A girl aged 6 years 11 months, with apraxia and hypotonia, and demonstrating motor delays consistent with DCD. Twenty-four strength training sessions were completed using a universal exercise unit. Postintervention scores significantly improved on the Bruininks-Oseretsky test of motor proficiency, second edition, and the Canadian occupational performance measure scores and raised the developmental coordination disorder questionnaire, revised 2007, scores above the range where DCD is suspected. Nonsignificant changes in strength were observed. Improved function and significant gains in manual coordination were observed following blocked practice of isolated, simple joint movements during strength training. Improved motor skills may be because of effective use of feedforward control and improved stabilization. Strength training does not rehearse skills using momentum, explaining nonsignificant changes in locomotor or locomotion areas.
The present paper reviews the theoretical and empirical literature on children and adolescents with gender variant behaviors. The organizational framework underlying this review is one that presents gender behavior in children and adolescents as a continuum rather than as a dichotomy of normal versus abnormal categories. Seven domains are reviewed in relation to gender variant behavior in general, and to Gender Identity Disorder (GID) in particular: theories of normative gender development, phenomenology, prevalence, assessment, developmental trajectories, comorbidity and treatment.
Adams, Catherine; Lockton, Elaine; Collins, Anna
Purpose: The purposes of this study are to investigate metapragmatic (MP) ability in 6-11-year-old children with social communication disorder (SCD), developmental language disorder (DLD), and typical language development and to explore factors associated with MP explicitation and social understanding (SU). Method: In this cross-sectional study,…
Mouridsen, Svend Erik; Hauschild, Karen-Marie
Abstract Little is known about the familial characteristics of children diagnosed during childhood as having a developmental language disorder (DLD). This study aimed to investigate the prevalence of autism spectrum disorders (ASD) in siblings of probands diagnosed during childhood as having a DLD...
Zeilinger, E. L.; Nader, I. W.; Brehmer-Rinderer, B.; Koller, I.; Weber, G.
Background: Assessment of psychiatric disorders in persons with an intellectual developmental disorder (IDD) can be performed with a variety of greatly differing instruments. This makes the choice of an instrument best suited for the intended purpose challenging. In this study, we developed a comprehensive set of characteristics for the evaluation…
Kenney, Mary Kay; Barac-Cikoja, Dragana; Finnegan, Kimberly; Jeffries, Neal; Ludlow, Christy L.
Children with developmental speech disorders may have additional deficits in speech perception and/or short-term memory. To determine whether these are only transient developmental delays that can accompany the disorder in childhood or persist as part of the speech disorder, adults with a persistent familial speech disorder were tested on speech…
Mario U Manto
Full Text Available The study of the links and interactions between development and motor learning has noticeable implications for the understanding and management of neurodevelopmental disorders. This is particularly relevant for the cerebellum which is critical for sensorimotor learning. The olivocerebellar pathway is a key pathway contributing to learning of motor skills. Its developmental maturation and remodelling are being unravelled. Advances in genetics have led to major improvements in our appraisal of the genes involved in cerebellar development, especially studies in mutant mice. Cerebellar neurogenesis is compartmentalized in relationship with neurotransmitter fate. The Engrailed-2 gene is a major actor of the specification of cerebellar cell types and late embryogenic morphogenesis. Math1, expressed by the rhombic lip (RL, is required for the genesis of glutamatergic neurons. Mutants deficient for the transcription factor Ptf1a display a lack of Purkinje cells and gabaergic interneurons. Rora gene contributes to the developmental signalling between granule cells and Purkinje neurons. The expression profile of SHH (Sonic hedgehog in postnatal stages determines the final size/shape of the cerebellum. Genes affecting the development impact upon the physiological properties of the cerebellar circuits. For instance, receptors are developmentally regulated and their action interferes directly with developmental processes. Another field of research which is expanding relates to very preterm neonates. They are at risk for cerebellar lesions, which may themselves impair the developmental events. Very preterm neonates often show sensori-motor deficits, highlighting another major link between impaired development and learning deficiencies. Pathways playing a critical role in cerebellar development are likely to become therapeutical targets for several neurodevelopmental disorders.
Elsabbagh, Mayada; Divan, Gauri; Koh, Yun-Joo; Kim, Young Shin; Kauchali, Shuaib; Marcín, Carlos; Montiel-Nava, Cecilia; Patel, Vikram; Paula, Cristiane S; Wang, Chongying; Yasamy, Mohammad Taghi; Fombonne, Eric
We provide a systematic review of epidemiological surveys of autistic disorder and pervasive developmental disorders (PDDs) worldwide. A secondary aim was to consider the possible impact of geographic, cultural/ethnic, and socioeconomic factors on prevalence estimates and on clinical presentation of PDD. Based on the evidence reviewed, the median of prevalence estimates of autism spectrum disorders was 62/10 000. While existing estimates are variable, the evidence reviewed does not support differences in PDD prevalence by geographic region nor of a strong impact of ethnic/cultural or socioeconomic factors. However, power to detect such effects is seriously limited in existing data sets, particularly in low-income countries. While it is clear that prevalence estimates have increased over time and these vary in different neighboring and distant regions, these findings most likely represent broadening of the diagnostic concets, diagnostic switching from other developmental disabilities to PDD, service availability, and awareness of autistic spectrum disorders in both the lay and professional public. The lack of evidence from the majority of the world's population suggests a critical need for further research and capacity building in low- and middle-income countries. Autism Res 2012, 5: 160–179. © 2012 International Society for Autism Research, Wiley Periodicals, Inc. PMID:22495912
Banu Tortamis Ozkaya
Full Text Available American Psychiatry Assosiation has scheduled to release The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5 in May 2013. According to the main changes being proposed about autism, there will be one unified Autism Spectrum Disorder diagnosis in the DSM-5 classification. This unified diagnosis will eliminate the distinct diagnostic categories under Pervasive Developmental Disorders in the DSM-IV-TR, namely autistic disorder, asperger syndrome, pervasive developmental disorder-not otherwise specified, and childhood disintegrative disorder. Rett syndrome will be excluded from autism spectrum disorder due to its genetic basis. In addition, severity of symptoms will be measured among individuals with autism spectrum disorder based on the support level required due to the impairment in their lives. The basic rationale behind this revision is that it is better to conceptualize autism as a spectrum including various individuals whose symptoms in different developmental areas range from mild to severe. It is aimed to increase the specificity of autism diagnosis by using one single diagnostic category with its specified severity rather than differentiating several subtypes. The major concern raised over the DSM-5 proposal has been the possibility that some of the individuals who were diagnosed with pervasive developmental disorder according to the DSM-IV-TR might not get a diagnosis in this new system. After the DSM-5 is released, clinical, legal, and educational rearrengements regarding the use of new autism spectrum disorder diagnostic criteria are expected to accelerate worldwide and in Turkey. This paper aims to review briefly the upcoming autism spectrum disorder diagnosis planned to appear in the DSM-5, the rationale of the proposed revision, main critics to the DSM-5 draft that has been publicized, and some of the regulations expected to occur in practice after the changes.
Blomquist, Kerstin K.; Ansell, Emily B.; White, Marney A.; Masheb, Robin M.; Grilo, Carlos M.
Objective To explore associations between specific interpersonal constructs and the developmental progression of behaviors leading to binge eating disorder (BED). Method Eighty-four consecutively evaluated, treatment-seeking obese (BMI ≥ 30) men and women with BED were assessed with structured diagnostic and clinical interviews and completed a battery of established measures to assess the current and developmental eating- and weight-related variables as well as interpersonal functioning. Results Using the interpersonal circumplex structural summary method, amplitude, elevation, the affiliation dimension, and the quadratic coefficient for the dominance dimension were associated with eating and weight-related developmental variables. The amplitude coefficient and more extreme interpersonal problems on the dominance dimension (quadratic)—i.e., problems with being extremely high (domineering) or low in dominance (submissive)—were significantly associated with ayounger age at onset of binge eating, BED, and overweight as well as accounted for significant variance in age at binge eating, BED, and overweight onset. Greater interpersonal problems with having an overly affiliative interpersonal style were significantly associated with, and accounted for significant variance in, ayounger age at diet onset. Discussion Findings provide further support for the importance of interpersonal problems among adults with BED and converge with recent work highlighting the importance of specific types of interpersonal problems for understanding heterogeneity and different developmental trajectories of individuals with BED. PMID:22727087
Full Text Available In the present article we review findings from an emerging body of research on attachment issues in adolescents with eating disorders from a developmental perspective. First, we will outline the crucial developmental changes in the attachment system and discuss how they might be related to the early onset of the disease. Then we will report on the major results from attachment studies using self-report and narrative instruments in that age group. Studies with a developmental approach on attachment will be analyzed in more detail. The high incidence of the unresolved attachment pattern in eating disorder samples is striking, especially for patients with anorexia nervosa. Interestingly, this predominance of the unresolved category was also found in their mothers. To date, these transgenerational aspects are still poorly understood and therefore represent an exciting research frontier. Future studies that include larger adolescent samples and provide a more detailed description including symptom severity and comorbidity would contribute to a better understanding of this complex and painful condition.
Cignetti, Fabien; Vaugoyeau, Marianne; Fontan, Aurelie; Jover, Marianne; Livet, Marie-Odile; Hugonenq, Catherine; Audic, Frédérique; Chabrol, Brigitte; Assaiante, Christine
Feedforward and online controls are two facets of predictive motor control from internal models, which is suspected to be impaired in learning disorders. We examined whether the feedforward component is affected in children (8-12 years) with developmental dyslexia (DD) and/or with developmental coordination disorder (DCD) compared to typically developing (TD) children. Children underwent a bimanual unloading paradigm during which a load supported to one arm, the postural arm, was either unexpectedly unloaded by a computer or voluntary unloaded by the subject with the other arm. All children showed a better stabilization (lower flexion) of the postural arm and an earlier inhibition of the arm flexors during voluntary unloading, indicating anticipation of unloading. Between-group comparisons of kinematics and electromyographic activity of the postural arm revealed that the difference during voluntary unloading was between DD-DCD children and the other groups, with the former showing a delayed inhibition of the flexor muscles. Deficit of the feedforward component of motor control may particularly apply to comorbid subtypes, here the DD-DCD subtype. The development of a comprehensive framework for motor performance deficits in children with learning disorders will be achieved only by dissociating key components of motor prediction and focusing on subtypes and comorbidities. Copyright © 2018 Elsevier Ltd. All rights reserved.
Full Text Available Developmental learning disorders affect many children, impairing their experience in the classroom and hindering many aspects of their life. Once a bleak sentence associated with life-long difficulties, several learning disorders can now be successfully alleviated, directly benefiting from promising interventions. In this review, we focus on two of the most prevalent learning disorders, dyslexia and ADHD. Recent advances have refined our understanding of the specific neural networks that are altered in these disorders, yet questions remain regarding causal links between neural changes and behavioral improvements. After briefly reviewing the theoretical foundations of dyslexia and ADHD, we explore their distinct and shared characteristics, and discuss the comorbidity of the two disorders. We then examine current interventions, and consider the benefits of approaches that integrate remediation within other activities to encourage sustained motivation and improvements. Finally, we conclude with a reflection on the potential for remediation programs to be personalized by taking into account the specificities and demands of each individual. The effective remediation of learning disorders is critical to modern societies, especially considering the far-reaching ramifications of successful early interventions.
Sadananda, Aparna; Ray, Krishanu
Slow axonal transport is a multivariate phenomenon implicated in several neurodegenerative disorders. Recent reports have unraveled the molecular basis of the transport of certain slow component proteins, such as the neurofilament subunits, tubulin, and certain soluble enzymes such as Ca(2+)/calmodulin-dependent protein kinase IIa (CaM kinase IIa), etc., in tissue cultured neurons. In addition, genetic analyses also implicate microtubule-dependent motors and other housekeeping proteins in this process. However, the biological relevance of this phenomenon is not so well understood. Here, the authors have discussed the possibility of adopting neurogenetic analyses in multiple model organisms to correlate molecular level measurements of the slow transport phenomenon to animal behavior, thus facilitating the investigation of its biological efficacy.
Mouridsen, S.E.; Rich, B.; Isager, T.
The prevalence and pattern of criminal behaviour in a population of 313 former child psychiatric in-patients with pervasive developmental disorders were studied. The patients were divided into three subgroups and compared with 933 matched controls from the general population. Age at follow.......1% and 18.4%, respectively. The corresponding rate of convictions in the comparison groups was 18.9%, 14.7%, and 19.6% respectively. Particular attention is given to arson in Asperger's syndrome (P = .0009) Udgivelsesdato: 2008/4...
Jawaid, A.; Riby, D. M.; Owens, J.; White, S. W.; Tarar, T.; Schulz, P. E.
In some neuro-developmental disorders, the combined effect of intellectual disability and atypicalities of social cognition may put individuals at increased vulnerability in their social environment. The neuro-developmental disorders Williams syndrome, characterised by "hypersociability", and autism spectrum disorders, characterised by "social…
Sun, Ingrid Ya I; Fernandes, Fernanda Dreux Miranda
The child's inclusion in his/her social-cultural context is very important to his/her adaptation and well-being. The family has a major role as a facilitator of this process. Therefore the difficulties of these families in communicating with children with communication disorders are an important issue to be assessed in order to support orientations to families. The present study aimed to identify and compare communication difficulties perceived by parents of children with Down Syndrome (DS), Autism Spectrum Disorders (ASD) and Specific Language Impairment (SLI). Information was gathered with the use of a questionnaire with 24 questions regarding the perception of parents about their child communication disorders and the difficulties they identify. The questions were divided into four domains: 1 - Parents' personal difficulties; 2 - Parents' impression about themselves regarding their child; 3 - Parents' impressions about other persons' reactions to their child and 4 - Parents' impression about their child. Sixty parents were the subjects of this study: 20 had children with DS, 20 with SLI and 20 with ASD. All children had ages between 6 and 12 years. It was possible to observe that there was significant difference between the parents of ASD children with those of DS and SLI on the second, third and fourth domains. The questionnaire is effective to the identification of the communication disorders of ASD children based on their parents' reports but not to other developmental disorders.
Kelli M Money
Full Text Available Neurotransmitters and neuromodulators, such as dopamine, participate in a wide range of behavioral and cognitive functions in the adult brain, including movement, cognition, and reward. Dopamine-mediated signaling plays a fundamental neurodevelopmental role in forebrain differentiation and circuit formation. These developmental effects, such as modulation of neuronal migration and dendritic growth, occur before synaptogenesis and demonstrate novel roles for dopaminergic signaling beyond neuromodulation at the synapse. Pharmacologic and genetic disruptions demonstrate that these effects are brain region- and receptor subtype-specific. For example, the striatum and frontal cortex exhibit abnormal neuronal structure and function following prenatal disruption of dopamine receptor signaling. Alterations in these processes are implicated in the pathophysiology of neuropsychiatric disorders, and emerging studies of neurodevelopmental disruptions may shed light on the pathophysiology of abnormal neuronal circuitry in neuropsychiatric disorders.
Song, Jieun; Mailick, Marsha R; Ryff, Carol D; Coe, Christopher L; Greenberg, Jan S; Hong, Jinkuk
This study examines whether parents of children with developmental disorders are at risk of elevated allostatic load relative to control parents and whether positive affect moderates difference in risk. In all, 38 parents of children with developmental disorders and 38 matched comparison parents were analyzed. Regression analyses revealed a significant interaction between parent status and positive affect: parents of children with developmental disorders had lower allostatic load when they had higher positive affect, whereas no such association was evident for comparison parents. The findings suggest that promoting greater positive affect may lower health risks among parents of children with developmental disorders.
Full Text Available The developmental coordination disorder can be recognized by motor difficulties that affect the performance in daily and school activities; therefore, it is necessary to get its early diagnosis in order to initiate early intervention. A tool for diagnosis is the Developmental coordination disorder questionnaire’07, DCDQ’07. Objective: the translation and cultural adaptation of the DCDQ’07 into Spanish. Materials and methods: three independent translators translated the questionnaire into Spanish. Its items were classified according to their equivalent or non-equivalent problems in some words, and also according to their experiential, semantic, conceptual or idioms equivalence. Results: 8 items out of 15 questionnaire items were classified as equivalent 8, 6 of them presented problems in a few words and only one was classified as non-equivalent, 10 items correspond to experiential equivalence translation, 4 items were classified as semantic equivalent and only one got two equivalents. The author agreed the Spanish version. Also, the parent´s opinions about the questionnaire were positive. Conclusions: most of the items of the questionnaire did not have translation difficulties. It allowed its translation and cultural adaptation into Spanish as well as its validation continuity and reliability process
Rodríguez-Quiroga, Sergio Alejandro; Cordoba, Marta; González-Morón, Dolores; Medina, Nancy; Vega, Patricia; Dusefante, Cecilia Vazquez; Arakaki, Tomoko; Garretto, Nélida Susana; Kauffman, Marcelo Andres
As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalizedclinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohortof 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patientswhose main complaint was the presence of progressive ataxia, to whom we applied a systematic moleculardiagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if weonly considered those patients where a molecular test could be performed, the success rate rises to 45%. Weobtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxicpatients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogeneticclinic could be successfully diagnosed.
Souza, Nilian Carla Silva; Mendonca, Jacqueline Nakau; Portari, Guilherme Vannucchi; Jordao Junior, Alceu Afonso; Marchini, Julio Sergio; Chiarello, Paula Garcia
Autism is a developmental disorder with a possible connection between dietary components and triggering or worsening of symptoms. An altered intestinal permeability might allow absorption of incompletely digested peptides (gluten and casein) that could produce opioid-like activity on the brain, causing significant changes in behavior. To assess the intestinal permeability and nutritional status of participants with developmental disorders to determine if changes in the intestinal mucosal barrier and/or injury to the intercellular junctions have occurred that might justify application of further dietary modifications. To assess intestinal permeability, the research team analyzed participants urine under fasting conditions, using gas chromatography to determine chromatographic peaks. To assess nutritional status, the team determined participants heights and weights and performed a bioelectric bioimpedance examination at least 4 hours after their most recent meal. In addition, the team determined food intake using three diet diaries. They asked participants and caregivers to register each food consumed during 2 nonconsecutive weekdays and 1 weekend day. The study occurred at the Ribeirao Preto School of Medicine, Sao Paulo University. Seven participants aged 9 to 23 years with developmental disorders (the developmental group, DG) completed the study. The research team recruited them through the Association of Friends of the Autistic Persons of Ribeirao Preto in Ribeirao Preto, Brazil. The control group (CG) consisted of nonsmoking healthy volunteers in the general population who were similar in age to the experimental group and did not suffer from diseases that potentially could influence nutritional status and intestinal function. To assess intestinal permeability, participants ingested 150 mL of an isosmolar solution of the sugars mannitol (2 g) and lactulose (7.5 g) under fasting conditions and the researchers collected all voided urine over a period of 5 hours
Full Text Available Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare.To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital.This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated.We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2% among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3-70. The mean time elapsed from symptom onset to WES was 11 years (range 3-42. The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853, which is 60% higher than WES cost in our center.WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients.
Vuong, Celine K; Black, Douglas L; Zheng, Sika
Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in mammals and is controlled by specialized RNA-binding proteins. The misregulation of splicing is implicated in multiple neurological disorders. We describe recent mouse genetic studies of alternative splicing that reveal its critical role in both neuronal development and the function of mature neurons. We discuss the challenges in understanding the extensive genetic programmes controlled by proteins that regulate splicing, both during development and in the adult brain.
Carigi, Tiziana; Muratori, Filippo; Termine, Cristiano; Veggiotti, Pierangelo; Derhemi, Ledhina; Di Nardo, Roberta; Rossi, Giorgio; Balottin, Umberto
Diagnosis of pervasive developmental disorders (PDDs), and above all diagnosis of the different PDD subtypes, is an ongoing challenge in psychopathology. Application of categorical criteria is complex and problematic in the clinical field where the boundaries dividing some of the PDD entities are blurred, creating particular problems for the clinician. A dimensional clinical approach, considering autistic symptom severity, level of functioning, developmental characteristics and symptoms other than the ones typically observed in autism, may be a more suitable approach in the clinical field and could provide the clinician treating these disorders with empirical guidance. To identify the clinical features that might differentiate the PDD subtypes, we conducted a comparative study in a clinical sample of children affected by autism disorder (AD) or pervasive developmental disorders not otherwise specified (PDD-NOS) and a mini critical review of the available literature addressing clinical and psychopathological differences between the two subtypes. The results of both our study and our literature review seem to show little support for the current PDD subtypes. In such a framework, the most significant element in clinical practice appears to be a deep knowledge of the characteristics of the individual in question. By adopting a broad and multi-faceted perspective, it becomes possible to define the most effective rehabilitation treatment. This applies particularly to the pharmacological treatment, since, to date, no specific therapies for PDDs are known and the choice of pharmacotherapy can be decided only on the basis of the patient's general profile and specific features.
Harrowell, Ian; Hollén, Linda; Lingam, Raghu; Emond, Alan
To assess the relationship between developmental coordination disorder (DCD) and mental health outcomes in late adolescence. Data were analyzed from the Avon Longitudinal Study of Parents and Children. Moderate-to-severe DCD was defined at 7 to 8 years according to the DSM-IV-TR criteria. Mental health was assessed at 16 to 18 years using self-reported questionnaires: Strengths and Difficulties Questionnaire, Short Moods and Feelings Questionnaire, and the Warwick-Edinburgh Mental Well-being Scale. Logistic and linear regressions assessed the associations between DCD and mental health, using multiple imputation to account for missing data. Adjustments were made for socio-economic status, IQ, and social communication difficulties. Adolescents with DCD (n=168) had an increased risk of mental health difficulties (total Strengths and Difficulties Questionnaire score) than their peers (n=3750) (odds ratio 1.78, 95% confidence interval 1.12-2.83, adjusted for socio-economic status and IQ). This was, in part, mediated through poor social communication skills. Adolescent females with DCD (n=59) were more prone to mental health difficulties than males. Greater mental well-being was associated with better self-esteem (β 0.82, pcommunication skills and self-esteem. © 2017 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.
Faebo Larsen, Rikke; Hvas Mortensen, Laust; Martinussen, Torben
The aim of this study was to investigate early life determinants of developmental coordination disorder (DCD) in 7-year-old children.......The aim of this study was to investigate early life determinants of developmental coordination disorder (DCD) in 7-year-old children....
Olszewska, Diana A; McVeigh, Terri; Fallon, Emer M; Pastores, Gregory M; Lynch, Tim
Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history. We performed a retrospective cohort analysis, reviewing symptoms and work-up data. Twenty-seven patients attended a pilot clinic over 12 months. Conditions encountered included Parkin-related PD, leucodystrophy, ataxia, fronto-temporal lobar degeneration, spinocerebellar ataxia type 6 (SCA6) and ataxia-telangiectasia. Identification of pathogenic mutations directed screening, treatment and facilitated onward genetic counselling (n = 10, 33%). A number of novel mutations were identified in MAPT gene ("missing tau mutation" McCarthy et al., Brain, 2015), SLCA1 gene and GRN (progranulin). Phenotypic features not previously reported were seen; e.g. writer's cramp in SCA6; paroxysmal myoclonus in the glucose transporter protein type 1 (GLUT1) deficiency. Breast cancer screening for ATM mutations carriers and referral to international experts in two undiagnosed patients were arranged. The establishment of a Neurogenetics clinic has addressed a gap in service and allowed identification of rare and atypical diagnoses.
Emilia Mikołajewska Rehabilitation Clinic Military Clinical Hospital No. 10 and Polyclinic Bydgoszcz, Poland e-mail: firstname.lastname@example.org, email@example.com www: http://emikolajewska.netstrefa.eu Keywords: rehabilitation; physiotherapy; developmental disorders; toy use; parent–child interaction; patient-therapist relationship. Abstract Developmental disorders (called also developmental disabilities are disorders beginning before age 18 and characterized by delay of developmental skills expected to achieve in particular age or developmental stage. Every effort toward new ways of intervention is precious, and achievement of the therapeutical success still constitutes tru challenge. This study aims at assessment how toys can be incorporated into principles of the eclectic approach toward therapy of children with developmental disabilities.
Post - traumatic and Developmental Stress Disorder PRINCIPAL INVESTIGATOR: Keith A...28 Feb 2013 4. TITLE AND SUBTITLE The Root Cause of Post - traumatic and Developmental Stress Disorder 5a. CONTRACT NUMBER W81XWH-‐07-‐1-‐0244...goal of Project 1 is to describe the progression of post -deployment stress disorders ( PTSD , major depression, suicidality) in active duty troops
Fernell, Elisabeth; Wilson, Philip; Hadjikhani, Nouchine; Bourgeron, Thomas; Neville, Brian; Taylor, David; Minnis, Helen; Gillberg, Christopher
We draw attention to a number of important considerations in the arguments about screening and outcome of intervention in children with autism and other developmental disorders. Autism screening in itself never provides a final clinical diagnosis, but may well identify developmental deviations indicative of autism-or of other developmental disorders-that should lead to referral for further clinical assessment. Decisions regarding population or clinic screening cannot be allowed to be based on the fact that prospective longitudinal RCT designs over decades could never be performed in complex developmental disorders. We propose an alternative approach. Early screening for autism and other developmental disorders is likely to be of high societal importance and should be promoted and rigorously evaluated.
Peleg, Mor; Asbeh, Nuaman; Kuflik, Tsvi; Schertz, Mitchell
Children with developmental disorders usually exhibit multiple developmental problems (comorbidities). Hence, such diagnosis needs to revolve on developmental disorder groups. Our objective is to systematically identify developmental disorder groups and represent them in an ontology. We developed a methodology that combines two methods (1) a literature-based ontology that we created, which represents developmental disorders and potential developmental disorder groups, and (2) clustering for detecting comorbid developmental disorders in patient data. The ontology is used to interpret and improve clustering results and the clustering results are used to validate the ontology and suggest directions for its development. We evaluated our methodology by applying it to data of 1175 patients from a child development clinic. We demonstrated that the ontology improves clustering results, bringing them closer to an expert generated gold-standard. We have shown that our methodology successfully combines an ontology with a clustering method to support systematic identification and representation of developmental disorder groups.
Reijnders, Margot R F; Ansor, Nurhuda M; Kousi, Maria; Yue, Wyatt W; Tan, Perciliz L; Clarkson, Katie; Clayton-Smith, Jill; Corning, Ken; Jones, Julie R; Lam, Wayne W K; Mancini, Grazia M S; Marcelis, Carlo; Mohammed, Shehla; Pfundt, Rolph; Roifman, Maian; Cohn, Ronald; Chitayat, David; Millard, Tom H; Katsanis, Nicholas; Brunner, Han G; Banka, Siddharth
RAC1 is a widely studied Rho GTPase, a class of molecules that modulate numerous cellular functions essential for normal development. RAC1 is highly conserved across species and is under strict mutational constraint. We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. Four individuals, each harboring one of c.53G>A (p.Cys18Tyr), c.116A>G (p.Asn39Ser), c.218C>T (p.Pro73Leu), and c.470G>A (p.Cys157Tyr) variants, were microcephalic, with head circumferences between -2.5 to -5 SD. In contrast, two individuals with c.151G>A (p.Val51Met) and c.151G>C (p.Val51Leu) alleles were macrocephalic with head circumferences of +4.16 and +4.5 SD. One individual harboring a c.190T>G (p.Tyr64Asp) allele had head circumference in the normal range. Collectively, we observed an extraordinary spread of ∼10 SD of head circumferences orchestrated by distinct mutations in the same gene. In silico modeling, mouse fibroblasts spreading assays, and in vivo overexpression assays using zebrafish as a surrogate model demonstrated that the p.Cys18Tyr and p.Asn39Ser RAC1 variants function as dominant-negative alleles and result in microcephaly, reduced neuronal proliferation, and cerebellar abnormalities in vivo. Conversely, the p.Tyr64Asp substitution is constitutively active. The remaining mutations are probably weakly dominant negative or their effects are context dependent. These findings highlight the importance of RAC1 in neuronal development. Along with TRIO and HACE1, a sub-category of rare developmental disorders is emerging with RAC1 as the central player. We show that ultra-rare disorders caused by private, non-recurrent missense mutations that result in varying phenotypes are challenging to dissect, but can be delineated through focused international collaboration. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Barr, Christina S; Driscoll, Carlos
Aggressive behavior can have adaptive value in certain environmental contexts, but when extreme or executed inappropriately, can also lead to maladaptive outcomes. Neurogenetic studies performed in nonhuman primates have shown that genetic variation that impacts reward sensitivity, impulsivity, and anxiety can contribute to individual differences in aggressive behavior. Genetic polymorphisms in the coding or promoter regions of the Mu-Opioid Receptor (OPRM1), Corticotropin Releasing Hormone (CRH), Monoamine Oxidase A (MAOA), Dopamine D4 Receptor (DRD4), and Serotonin Transporter (SLC6A4) genes have been shown to be functionally similar in humans and rhesus macaques and have been demonstrated to contribute to individual differences in aggression. This body of literature suggests mechanisms by which genetic variation that promotes aggressivity could simultaneously increase evolutionary success while making modern humans more vulnerable to psychopathology.
Asonitou, Katerina; Koutsouki, Dimitra
The purpose of the study was to identify the cognitive subtypes demonstrated by children with developmental coordination disorder (DCD) using the Planning-Attention-Simultaneous-Successive Processing (PASS) theory and the Cognitive Assessment System (D-N CAS). Participants were 108 children aged 5- and 6-years old, 54 with DCD and 54 without DCD, all attending typical kindergartens. They were examined on 31 cognitive-motor variables. Hierarchical-agglomerative and iterative partitioning cluster analyses including 9 motor and 7 cognitive variables revealed the following six subtypes: o C1 = children at risk (having considerable difficulty with jumping and minor difficulty with manual dexterity and simultaneous coding); o C2 = children on the mean (all cognitive-motor scores close to the mean); o C3 = free from cognitive-motor problems (all scores above average); o C4 = manual dexterity, planning and simultaneous coding difficulties; o C5 = manual dexterity, dynamic balance, and planning difficulties; o C6 = generalized cognitive-motor dysfunction (all scores considerably below average). It is well known that DCD is a heterogeneous condition. However, whenever cognitive processes were lower than average, cognitive-motor relationship was evident in subgroups C1, C4, C5 and C6. Early identification of task-specific cognitive-motor difficulties may be essential for early educational intervention practices in order to anticipate and improve learning, academic and performing difficulties. Copyright © 2016 Elsevier B.V. All rights reserved.
Li, Kuan-yi; Su, Wei-jen; Fu, Hsuan-wei; Pickett, Kristen A
The aim of this study was to measure and compare kinesthetic sensitivity in children with developmental coordination disorder (DCD) and typically developing (TD) children between 6 and 11 years old. 30 children with DCD aged 6 to 11 years (5 in each age group) and 30 TD children participated in the study. Participants placed their forearms on a passive motion apparatus which extended the elbow joint at constant velocities between 0.15 and 1.35°s(-1). Participants were required to concentrate on detection of passive arm motion and press a trigger held in their left hand once they sensed it. The detection time was measured for each trial. The DCD group was significantly less sensitive in detection of passive motion than TD children. Further analysis of individual age groups revealed that kinesthetic sensitivity was worse in DCD than TD children for age groups beyond six years of age. Our findings suggested that individual with DCD lag behind their TD counterparts in kinesthetic sensitivity. Between the ages of 7 and 11 years the difference between groups is quantifiable and significant with 11 year old children with DCD performing similar to 7 year old TD children. Copyright © 2014 Elsevier Ltd. All rights reserved.
Gabbard, Carl; Cacola, Priscila
The study of children with developmental coordination disorder (DCD) has emerged as a vibrant line of inquiry over the last two decades. The literature indicates quite clearly that children with DCD display deficits with an array of perceptual-motor and daily living skills. The movements of children with DCD are often described as clumsy and uncoordinated and lead to difficulties with performing many of the activities of daily living and sports that typically developing children perform easily. It has been hypothesized, based on limited research, that an underlying problem is a deficit in generating and/or monitoring an action representation termed the internal modeling deficit hypothesis. According to the hypothesis, children with DCD have significant limitations in their ability to accurately generate and utilize internal models of motor planning and control. The focus of this review is on one of the methods used to examine action representation-motor imagery, which theorists argue provides a window into the process of action representation. Included are research methods and possible brain structures involved. An addition, a paradigm unique with this population-estimation of reachability (distance) via motor imagery, will be described.
Lima, César F.; Brancatisano, Olivia; Fancourt, Amy; Müllensiefen, Daniel; Scott, Sophie K.; Warren, Jason D.; Stewart, Lauren
Some individuals show a congenital deficit for music processing despite normal peripheral auditory processing, cognitive functioning, and music exposure. This condition, termed congenital amusia, is typically approached regarding its profile of musical and pitch difficulties. Here, we examine whether amusia also affects socio-emotional processing, probing auditory and visual domains. Thirteen adults with amusia and 11 controls completed two experiments. In Experiment 1, participants judged emotions in emotional speech prosody, nonverbal vocalizations (e.g., crying), and (silent) facial expressions. Target emotions were: amusement, anger, disgust, fear, pleasure, relief, and sadness. Compared to controls, amusics were impaired for all stimulus types, and the magnitude of their impairment was similar for auditory and visual emotions. In Experiment 2, participants listened to spontaneous and posed laughs, and either inferred the authenticity of the speaker’s state, or judged how much laughs were contagious. Amusics showed decreased sensitivity to laughter authenticity, but normal contagion responses. Across the experiments, mixed-effects models revealed that the acoustic features of vocal signals predicted socio-emotional evaluations in both groups, but the profile of predictive acoustic features was different in amusia. These findings suggest that a developmental music disorder can affect socio-emotional cognition in subtle ways, an impairment not restricted to auditory information. PMID:27725686
Kerbeshian, Jacob; Burd, Larry
We propose the concept that anorexia nervosa is a neuropsychiatric developmental disorder. In support of the concept we present a case report of a 12-year-old girl with high functioning autistic disorder who developed Tourette syndrome and obsessive-compulsive disorder. She subsequently experienced
Fernell, Elisabeth; Wilson, Philip; Hadjikhani, Nouchine; Bourgeron, Thomas; Neville, Brian; Taylor, David; Minnis, Helen; Gillberg, Christopher
We draw attention to a number of important considerations in the arguments about screening and outcome of intervention in children with autism and other developmental disorders. Autism screening in itself never provides a final clinical diagnosis, but may well identify developmental deviations indicative of autism—or of other developmental disorders—that should lead to referral for further clinical assessment. Decisions regarding population or clinic screening cannot be allowed to be based on...
Matson, Johnny L.; Mahan, Sara; Hess, Julie A.; Fodstad, Jill C.
The effect of developmental quotient on symptoms of inattention and impulsivity was examined among 198 toddlers with Autism Spectrum Disorders. There were two levels of developmental quotient: (1) low (less than or equal to 70; n = 80), and (2) typical (greater than 70; n = 118). Symptoms of inattention and impulsivity were assessed using 14 items…
Jelsma, L.D.; Smits-Engelsman, B.C.M.; Geuze, R.H.
Changes in dynamic balance control over time in children with and without Developmental Coordination Disorder L.D. Jelsma1, B.C.M. Smits-Engelsman2 & R.H. Geuze1 1Clinical and Developmental Neuropsychology, University of Groningen, Grote Kruisstraat 2-1, 9712 TS Groningen, the Netherlands.
Terband, H.; Maassen, B.; van Lieshout, P.; Nijland, L.
The aim of this study was to investigate the consistency and composition of functional synergies for speech movements in children with developmental speech disorders. Kinematic data were collected on the reiterated productions of syllables spa(/spa[image omitted]/) and paas(/pa[image omitted]s/) by 10 6- to 9-year-olds with developmental speech…
van der Niet, Anneke G.; Hartman, Esther; Moolenaar, Ben J.; Smith, Joanne; Visscher, Chris
Children with developmental language disorders (DLD) often experience difficulty in understanding and engaging in interactive behavior with other children, which may lead to reduced daily physical activity and fitness levels. The present study evaluated the physical activity and physical fitness
van der Hoek, Frouwien D.; Stuive, Ilse; Reinders-Messelink, Heleen A.; Holty, Lian; de Blecourt, Alida C. E.; Maathuis, Carel G. B.; van Weert, Ellen
Objective: To compare components of health-related physical fitness between Dutch children with clinically diagnosed developmental coordination disorder (DCD) and typically developing children (TDC), and to examine associations between motor performance problems and components of health-related
Van der Linde, Berdien W.; van Netten, Jaap J.; Otten, Bert; Postema, Klaas; Geuze, Reint H.; Schoemaker, Marina M.
Background. Children with developmental coordination disorder (DCD) face evident motor difficulties in daily functioning. Little is known, however, about their difficulties in specific activities of daily living (ADL). Objective. The purposes of this study were: (1) to investigate differences
Moraal-van der Linde, Berdien; Netten, Jaap; Otten, Bert; Postema, Klaas; Geuze, Reint; Schoemaker, Marina
Background. Children with developmental coordination disorder (DCD) face evident motor difficulties in daily functioning. Little is known, however, about their difficulties in specific activities of daily living (ADL). Objective. To (a) investigate differences between children with DCD and their
Bildt, de A.; Mulder, E.J.; Scheers, T.; Minderaa, R.B.; Tobi, H.
OBJECTIVE. This study investigated the interrelationship between psychopharmacotherapy in general and the use of specific psychotropic drugs and pervasive developmental disorder and other behavior problems in children and adolescents with mental retardation. METHODS. A total of 862 participants 4 to
Full Text Available Abstract Background With a large number of potentially relevant clinical indicators penalization and ensemble learning methods are thought to provide better predictive performance than usual linear predictors. However, little is known about how they perform in clinical studies where few cases are available. We used Random Forests and Partial Least Squares Discriminant Analysis to select the most salient impairments in Developmental Coordination Disorder (DCD and assess patients similarity. Methods We considered a wide-range testing battery for various neuropsychological and visuo-motor impairments which aimed at characterizing subtypes of DCD in a sample of 63 children. Classifiers were optimized on a training sample, and they were used subsequently to rank the 49 items according to a permuted measure of variable importance. In addition, subtyping consistency was assessed with cluster analysis on the training sample. Clustering fitness and predictive accuracy were evaluated on the validation sample. Results Both classifiers yielded a relevant subset of items impairments that altogether accounted for a sharp discrimination between three DCD subtypes: ideomotor, visual-spatial and constructional, and mixt dyspraxia. The main impairments that were found to characterize the three subtypes were: digital perception, imitations of gestures, digital praxia, lego blocks, visual spatial structuration, visual motor integration, coordination between upper and lower limbs. Classification accuracy was above 90% for all classifiers, and clustering fitness was found to be satisfactory. Conclusions Random Forests and Partial Least Squares Discriminant Analysis are useful tools to extract salient features from a large pool of correlated binary predictors, but also provide a way to assess individuals proximities in a reduced factor space. Less than 15 neuro-visual, neuro-psychomotor and neuro-psychological tests might be required to provide a sensitive and
Kay-Raining Bird, Elizabeth; Genesee, Fred; Verhoeven, Ludo
Children with developmental disabilities (DD) often need and sometimes opt to become bilingual. The context for bilingual acquisition varies considerably and can impact outcomes. In this first article of the special issue, we review research on the timing and amount of bilingual exposure and outcomes of either direct language intervention or educational placements in three groups of children with DD: Specific Language Impairment (SLI), Autism Spectrum Disorders (ASD), and Down syndrome (DS). Children with SLI have been studied more than the other two groups. Findings showed that, on the one hand, the communication skills of simultaneous bilinguals and matched monolinguals with DD were similar for all groups when the stronger language or both languages of the bilingual children were considered. On the other hand, similar to typically developing children, sequential bilinguals and matched monolinguals with SLI (other groups not studied) differed on some but not all second language (L2) measures; even after an extended period of exposure, differences in L2 outcomes were not completely resolved. There is emerging evidence that the typological similarity of the languages being learned influences L2 development in sequential bilinguals, at least in children with SLI. Increasing the frequency of exposure seems to be more related to development of the weaker language in bilinguals with DD than their stronger language. Language intervention studies show the efficacy of interventions but provide little evidence for transfer across languages. In addition, only one (unpublished) study has compared the language and academic outcomes of children with DD in different language education programs. Research on bilingual children with DD in different educational settings/programs is limited, probably as a result of restricted inclusion of these children in some educational settings. We argue for the implementation of full inclusion policies that provide increased access to dual
Duman-Scheel, Molly; Syed, Zainulabeuddin
Sexual dimorphism, a poorly understood but crucial aspect of vector mosquito biology, encompasses sex-specific physical, physiological, and behavioral traits related to mosquito reproduction. The study of mosquito sexual dimorphism has largely focused on analysis of the differences between adult female and male mosquitoes, particularly with respect to sex-specific behaviors related to disease transmission. However, sexually dimorphic behaviors are the products of differential gene expression that initiates during development and therefore must also be studied during development. Recent technical advancements are facilitating functional genetic studies in the dengue vector Aedes aegypti, an emerging model for mosquito development. These methodologies, many of which could be extended to other non-model insect species, are facilitating analysis of the development of sexual dimorphism in neural tissues, particularly the olfactory system. These studies are providing insight into the neurodevelopmental genetic basis for sexual dimorphism in vector mosquitoes.
Full Text Available Sexual dimorphism, a poorly understood but crucial aspect of vector mosquito biology, encompasses sex-specific physical, physiological, and behavioral traits related to mosquito reproduction. The study of mosquito sexual dimorphism has largely focused on analysis of the differences between adult female and male mosquitoes, particularly with respect to sex-specific behaviors related to disease transmission. However, sexually dimorphic behaviors are the products of differential gene expression that initiates during development and therefore must also be studied during development. Recent technical advancements are facilitating functional genetic studies in the dengue vector Aedes aegypti, an emerging model for mosquito development. These methodologies, many of which could be extended to other non-model insect species, are facilitating analysis of the development of sexual dimorphism in neural tissues, particularly the olfactory system. These studies are providing insight into the neurodevelopmental genetic basis for sexual dimorphism in vector mosquitoes.
Goldman, Sylvie; DeNigris, Danielle
Conversations about the past support the development of autobiographical memory. Parents' strategies to elicit child's participation and recall during past event conversations were compared across three school-age diagnostic groups: autism spectrum disorder (ASD, n = 11), developmental language disorders (n = 11) and typically developing (TD,…
Troost, P.W.; Steenhuis, M.P.; Tuynman-Qua, H.G.; Kalverdijk, L.J.; Buitelaar, J.K.; Minderaa, R.B.; Hoekstra, P.J.
OBJECTIVE: This pilot study examined the effects of atomoxetine on attention-deficit/hyperactivity disorder (ADHD) symptoms and autistic features in children with pervasive developmental disorders (PDD). METHOD: Twelve children (aged 6-14 years) with PDD accompanied by ADHD symptoms entered a
Troost, Pieter W.; Steenhuis, Mark-Peter; Tuynman-Qua, Hanneke G.; Kalverdijk, Luuk J.; Buitelaar, Jan K.; Minderaa, Ruud B.; Hoekstra, Pieter J.
Objective: This pilot study examined the effects of atomoxetine on attention-deficit/hyperactivity disorder (ADHD) symptoms and autistic features in children with pervasive developmental disorders (PDD). Method: Twelve children (aged 6-14 years) with PDD accompanied by ADHD symptoms entered a
Bart, Orit; Daniel, Liron; Dan, Orrie; Bar-Haim, Yair
Individuals with attention deficit hyperactive disorder (ADHD) often have coexisting developmental coordination disorder (DCD). The positive therapeutic effect of methylphenidate on ADHD symptoms is well documented, but its effects on motor coordination are less studied. We assessed the influence of methylphenidate on motor performance in children…
Sumner, Emma; Leonard, Hayley C.; Hill, Elisabeth L.
Motor and social difficulties are often found in children with an autism spectrum disorder (ASD) and with developmental coordination disorder (DCD), to varying degrees. This study investigated the extent of overlap of these problems in children aged 7-10 years who had a diagnosis of either ASD or DCD, compared to typically-developing controls.…
Uono, Shota; Sato, Wataru; Toichi, Motomi
This study was designed to identify specific difficulties and associated features related to the problems with social interaction experienced by individuals with pervasive developmental disorder-not otherwise specified (PDD-NOS) using an emotion-recognition task. We compared individuals with PDD-NOS or Asperger's disorder (ASP) and typically…
Jongmans, MJ; Smits-Engelsman, BCM; Schoemaker, MM
Children with developmental coordination disorder (DCD) have difficulty learning and performing age-appropriate perceptual-motor skills in the absence of diagnosable neurological disorders. Descriptive studies have shown that comorbidity of DCD exists with attention-deficit/hyperactivity disorder
Alves, Débora Cristina; Casella, Erasmo Barbante; Ferraro, Alexandre Arcanjo
Purpose to analyze and classify the spelling performance according to the semiology of spelling error of children with developmental dyslexia (DD) and with developmental dyslexia associated to attention deficit disorder and hyperactivity(DD and ADHD) comparing them to a group of children without learning process complaints. Methods Seventy students, from the third to fifth grade, participated in this study divided as follows: 32 children without complaints of learning difficulties (GI), mean age 9.5 years; 22 students with developmental dyslexia (GII), mean age 10 years; 16 scholars with developmental dyslexia associated to attention deficit disorders and hyperactivity (GIII), mean age 9.9. Spelling skills were assessed through a standardized word dictation task. Results Data indicated that GII and GIII children presented lower performance when compared with typically developed children. There was no statistical difference between the performance of GII and GIII children regarding the score reached in spelling, although GIII children presented the lowest performance. We observed differences between GII and GIII only in the type of misspelling. Conclusion Data from this research contribute to develop better programs for intervention in the studied population.
Bishop, Dorothy V M; Nation, Kate; Patterson, Karalyn
Acquired disorders of language represent loss of previously acquired skills, usually with relatively specific impairments. In children with developmental disorders of language, we may also see selective impairment in some skills; but in this case, the acquisition of language or literacy is affected from the outset. Because systems for processing spoken and written language change as they develop, we should beware of drawing too close a parallel between developmental and acquired disorders. Nevertheless, comparisons between the two may yield new insights. A key feature of connectionist models simulating acquired disorders is the interaction of components of language processing with each other and with other cognitive domains. This kind of model might help make sense of patterns of comorbidity in developmental disorders. Meanwhile, the study of developmental disorders emphasizes learning and change in underlying representations, allowing us to study how heterogeneity in cognitive profile may relate not just to neurobiology but also to experience. Children with persistent language difficulties pose challenges both to our efforts at intervention and to theories of learning of written and spoken language. Future attention to learning in individuals with developmental and acquired disorders could be of both theoretical and applied value.
Penzes, Peter; Buonanno, Andres; Passafarro, Maria; Sala, Carlo; Sweet, Robert A.
Psychiatric and neurodegenerative disorders, including intellectual disability (ID), autism spectrum disorders (ASD), schizophrenia (SZ), and Alzheimer's disease (AD), pose an immense burden to society. Symptoms of these disorders become manifest at different stages of life: early childhood, adolescence, and late adulthood, respectively. Progress has been made in recent years toward understanding the genetic substrates, cellular mechanisms, brain circuits, and endophenotypes of these disorder...
Goulardins, Juliana B; Rigoli, Daniela; Licari, Melissa; Piek, Jan P; Hasue, Renata H; Oosterlaan, Jaap; Oliveira, Jorge A
Attention deficit hyperactivity disorder (ADHD) has been described as the most prevalent behavioral disorder in children. Developmental coordination disorder (DCD) is one of the most prevalent childhood movement disorders. The overlap between the two conditions is estimated to be around 50%, with both substantially interfering with functioning and development, and leading to poorer psychosocial outcomes. This review provides an overview of the relationship between ADHD and DCD, discussing the common presenting features, etiology, neural basis, as well as associated deficits in motor functioning, attention and executive functioning. It is currently unclear which specific motor and cognitive difficulties are intrinsic to each disorder as many studies of ADHD have not been screened for DCD and vice-versa. The evidence supporting common brain underpinnings is still very limited, but studies using well defined samples have pointed to non-shared underpinnings for ADHD and DCD. The current paper suggests that ADHD and DCD are separate disorders that may require different treatment approaches. Copyright © 2015 Elsevier B.V. All rights reserved.
Lange, Stephen M.
Developmental coordination disorder (DCD) is frequently comorbid with attention-deficit hyperactivity disorder (ADHD). DCD results in functional impairment in activities of daily living, and children's physical activities with peers. Children with DCD report fewer friendships, more bullying, and less confidence in their ability to participate in…
Stewart, Bonnie C.
This guide to pervasive developmental disorder (PDD) or autistic spectrum disorder (ASD) first provides a review of the literature on defining characteristics of PDD/ASD, causes of PDD, and diagnosis of PDD. Review of intervention and treatment comprises the major portion of the paper. After briefly considering parent education, this section…
Dhall, Jasmine Kaur
Handwriting execution is based on the cognitive, kinesthetic, motor skills, and manual co-ordination skills of an individual. The deterioration in handwriting quality is a common implication of neurological disorders. Difficulty and degradation in handwriting has been attributed to the sensory motor deficits prevalent in developmental disorders.…
Jacob, Udeme Samuel; Olisaemeka, Angela Nneka; Edozie, Isioma Sitamalife
The paper attempts to discuss the place of intervention in the developmental and communication disorders of children with intellectual disability for the purpose of providing effective inclusion programme. The definition of early intervention was stated, areas affected by children communication disorder such as language comprehension, fluency,…
Quinto-Pozos, David; Forber-Pratt, Anjali J.; Singleton, Jenny L.
Purpose: This study focused on whether developmental communication disorders exist in American Sign Language (ASL) and how they might be characterized. ASL studies is an emerging field; educators and clinicians have minimal access to descriptions of communication disorders of the signed modality. Additionally, there are limited resources for…
Padgett, Fiona E.; Miltsiou, Eleni; Tiffin, Paul A.
Background: Pervasive developmental disorders (PDDs) were originally conceptualised as a form of ("infantile") psychosis. Recently, the disorders have been viewed as separate constructs. However, there is evidence of overlapping psychopathology, pathophysiology, and occurrence of the two syndromes. Methods: A historical overview is provided. A…
Autism spectrum disorders (ASD), a group of neurodevelopmental disorders characterized by marked deficits in social interaction and communication with unusually restricted interests, have a tremendous impact on society and are increasingly being diagnosed. Increased developmental screening, use of standardized diagnostic tests, and a broadening of Diagnostic and Statistical Manual of Mental Disorders (American Psychiatric Association, 2000) criteria might account for the increased incidence. Evidence-based treatments for children with ASD, reviewed by the National Standards Project, are primarily behavioral interventions with foundations in the sciences of applied behavior analysis and developmental psychology and emphasize improved functional communication and social reciprocity.
Biotteau, Maëlle; Péran, Patrice; Vayssière, Nathalie; Tallet, Jessica; Albaret, Jean-Michel; Chaix, Yves
Recent theories hypothesize that procedural learning may support the frequent overlap between neurodevelopmental disorders. The neural circuitry supporting procedural learning includes, among others, cortico-cerebellar and cortico-striatal loops. Alteration of these loops may account for the frequent comorbidity between Developmental Coordination Disorder (DCD) and Developmental Dyslexia (DD). The aim of our study was to investigate cerebral changes due to the learning and automatization of a sequence learning task in children with DD, or DCD, or both disorders. fMRI on 48 children (aged 8-12) with DD, DCD or DD + DCD was used to explore their brain activity during procedural tasks, performed either after two weeks of training or in the early stage of learning. Firstly, our results indicate that all children were able to perform the task with the same level of automaticity, but recruit different brain processes to achieve the same performance. Secondly, our fMRI results do not appear to confirm Nicolson and Fawcett's model. The neural correlates recruited for procedural learning by the DD and the comorbid groups are very close, while the DCD group presents distinct characteristics. This provide a promising direction on the neural mechanisms associated with procedural learning in neurodevelopmental disorders and for understanding comorbidity. Published by Elsevier Ltd.
Akdemir, Devrim; Pehlivantürk, Berna; Unal, Fatih; Ozusta, Seniz
This study examined social behaviors related to attachment in children with autistic disorder and the differences in these behaviors from those observed in developmentally disabled children. Additionally, we aimed to investigate the relationship between attachment behaviors and clinical variables, such as age, cognitive development, severity of autism, language development, and mothers' attachment styles. The study group consisted of 19 children with autistic disorder (mean age: 37.9 +/- 6.8 months) and the control group consisted of 18 developmentally disabled children without autistic disorder that were matched with respect to age, gender, and cognitive development. The Childhood Autism Rating Scale (CARS) was administered to all the children by two child psychiatrists. Mothers completed the Relationships Scale Questionnaire (RSQ). Cognitive development of the children was assessed with the Stanford-Binet intelligence scale. Attachment behaviors of the children were evaluated with a modified Strange Situation Procedure (SSP). Attachment behaviors in the children with autistic disorder and in the children with developmental disabilities were similar. In contrast to the developmentally disabled group, the children with autistic disorder stayed closer toward their mothers compared with their responses to strangers. In the autistic disorder group, attachment behaviors were not associated with age, intelligence quotient, or mothers' attachment styles; however, a significant relationship between the severity of autism and the presence of speech was observed. Parents' understanding of the attachment needs and the attachment behaviors of their autistic children in the early stages of the disorder may lead to more secure attachment relationships and improved social development.
Tachibana, Yoshiyuki; Takehara, Kenji; Kakee, Naoko; Mikami, Masashi; Inoue, Eisuke; Mori, Rintaro; Ota, Erika; Koizumi, Tomoe; Okuyama, Makiko; Kubo, Takahiko
Previous work has suggested that maternal developmental disorder traits related to autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are significantly associated with child maltreatment. However, there may be other important maternal characteristics that contribute to child maltreatment. We hypothesized that maternal impulse control disability may also affect child maltreatment in addition to maternal developmental disorder traits. We aimed to test this hypothesis via a cohort study performed in Tokyo (n = 1,260). Linear regression analyses using the Behavioural Inhibition/Behavioural Activation Scales, the self-administered short version of the Pervasive Developmental Disorders Autism Society Japan Rating Scale, the short form of the Adult Attention-Deficit Hyperactivity Disorder Self-Report Scale, and the Child Maltreatment Scale, revealed that excessive inhibition of behaviour and affect, which is impulse control disability, is significantly associated with child maltreatment (b = 0.031, p = 0.018) in addition to maternal developmental disorder traits (ASD: b = 0.052, p = 0.004; ADHD: b = 0.178, p child maltreatment, while ADHD was associated (AOR = 1.034, p = 0.022) with severe child maltreatment. These maternal characteristics may inform the best means for prevention and management of child maltreatment cases.
Clark, Carol J.
Background: Developmental Coordination Disorder (DCD) is a neurodevelopmental disorder affecting motor coordination. Evidence suggests this disorder persists into adulthood and may be associated with biomechanical dysfunction and pain. We report on the development and initial validation of a questionnaire to assess for DCD in adults. Methods: An initial item pool (13 items) was derived from the American Psychiatric Association criteria and World Health Organisation definition for DCD. An expe...
Barnett, Anna L; Wilmut, Kate; Plumb, Mandy S
Introduction There is substantial evidence to support the relationship between transcription skills (handwriting and spelling) and compositional quality. For children with developmental coordination disorder, handwriting can be particularly challenging. While recent research has aimed to investigate their handwriting difficulties in more detail, the impact of transcription on their compositional quality has not previously been examined. The aim of this exploratory study was to examine compositional quality in children with developmental coordination disorder and to ascertain whether their transcription skills influence writing quality. Method Twenty-eight children with developmental coordination disorder participated in the study, with 28 typically developing age and gender matched controls. The children completed the ‘free-writing’ task from the detailed assessment of speed of handwriting tool, which was evaluated for compositional quality using the Wechsler objective language dimensions. Results The children with developmental coordination disorder performed significantly below their typically developing peers on five of the six Wechsler objective language dimensions items. They also had a higher percentage of misspelled words. Regression analyses indicated that the number of words produced per minute and the percentage of misspelled words explained 55% of the variance for compositional quality. Conclusion The handwriting difficulties so commonly reported in children with developmental coordination disorder have wider repercussions for the quality of written composition. PMID:27807392
Five to seven percent of children experience severe difficulties in learning mathematics and/or reading. Current trials that are focused on identifying biological markers suggest that these learning disabilities, known as Developmental Dyscalculia (DD) and Dyslexia (for reading), are due to underlying brain dysfunctions. One ongoing controversy…
Pennington, Bruce F.
This review includes 1) an explanation of what neuropsychology is, 2) a brief history of how developmental cognitive neuroscience emerged from earlier neuropsychological approaches to understanding atypical development, 3) three recent examples that illustrate the benefits of this approach, 4) issues and challenges this approach must face, and 5)…
Takahashi, Aki; Miczek, Klaus A
Aggressive behavior is observed in many animal species, such as insects, fish, lizards, frogs, and most mammals including humans. This wide range of conservation underscores the importance of aggressive behavior in the animals' survival and fitness, and the likely heritability of this behavior. Although typical patterns of aggressive behavior differ between species, there are several concordances in the neurobiology of aggression among rodents, primates, and humans. Studies with rodent models may eventually help us to understand the neurogenetic architecture of aggression in humans. However, it is important to recognize the difference between the ecological and ethological significance of aggressive behavior (species-typical aggression) and maladaptive violence (escalated aggression) when applying the findings of aggression research using animal models to human or veterinary medicine. Well-studied rodent models for aggressive behavior in the laboratory setting include the mouse (Mus musculus), rat (Rattus norvegicus), hamster (Mesocricetus auratus), and prairie vole (Microtus ochrogaster). The neural circuits of rodent aggression have been gradually elucidated by several techniques, e.g., immunohistochemistry of immediate-early gene (c-Fos) expression, intracranial drug microinjection, in vivo microdialysis, and optogenetics techniques. Also, evidence accumulated from the analysis of gene-knockout mice shows the involvement of several genes in aggression. Here, we review the brain circuits that have been implicated in aggression, such as the hypothalamus, prefrontal cortex (PFC), dorsal raphe nucleus (DRN), nucleus accumbens (NAc), and olfactory system. We then discuss the roles of glutamate and γ-aminobutyric acid (GABA), excitatory and inhibitory amino acids in the brain, as well as their receptors, in controlling aggressive behavior, focusing mainly on recent findings. At the end of this chapter, we discuss how genes can be identified that underlie individual
Taylor, Julia V; Gibson, Donna M
The purpose of this article is to review a crisis intervention using the developmental-ecological protocol (Collins and Collins, 2005) with a college student presenting with symptomatology of an active eating disorder. Participants included University Wellness Center employees responding to the crisis. Methods include an informal review of the crisis intervention response and application of the ABCDE developmental-ecological crisis model. Results reported include insight into crisis intervention when university counseling and health center is not available as resources. ABCDE Developmental-ecological model recommendations for university faculty and staff are included.
Munir, Kerim M
The study summarizes supportive epidemiological data regarding the true co-occurrence (comorbidity) and course of mental disorders in children with intellectual disability/intellectual developmental disorders (ID/IDD) across the lifespan. Published studies involving representative populations of children and adolescents with ID/IDD have demonstrated a three to four-fold increase in prevalence of co-occurring mental disorders. The effect of age, sex, and severity (mild, moderate, severe, and profound) and socioeconomic status on prevalence is currently not clearly understood. To date there are no prevalence estimates of co-occurring mental disorders in youth identified using the new DSM-5 (and proposed ICD-11) definition of ID/IDD using measures of intellectual functions and deficits in adaptive functioning with various severity levels defined on the basis of adaptive functioning, and not intellectual quotient scores. The true relationship between two forms of morbidity remains complex and causal relationships that may be true for one disorder may not apply to another. The new conceptualization of ID/IDD offers a developmentally better informed psychobiological approach that can help distinguish co-occurrence of mental disorders within the neurodevelopmental section with onset during the developmental period as well as the later onset of other mental disorders.
Alexandre Martins Valença
Full Text Available BACKGROUND: Sexual violence is a serious public health problem that concerns and faces our society. The prevalence, magnitude and consequences of this problem have merited growing attention by health researchers and human rights scholars. OBJECTIVE: To conduct a review of the literature regarding the relationship between mental disorders, sexual offences and those of development. METHODS: A bibliographic research was performed in PubMed, Scientific Electronic Library Online (SciELO and Lilacs, employing the terms "sexual crime", "sexual offence", "mental disorder", "mental retardation", "developmental disability" and its combinations. RESULTS: The mental disorders and developmental disorders more frequently related to the perpetration of sexual offences were schizophrenia, bipolar disorder and mental retardation. DISCUSSION: The detection and treatment of psychiatric morbidity among sexual offenders in health and criminal justice systems, which may contribute to a lower risk of recidivism of this sexual behaviour, is important.
Robinson, Joshua F; Port, Jesse A; Yu, Xiaozhong; Faustman, Elaine M
To understand the complex etiology of developmental disorders, an understanding of both genetic and environmental risk factors is needed. Human and rodent genetic studies have identified a multitude of gene candidates for specific developmental disorders such as neural tube defects (NTDs). With the emergence of toxicogenomic-based assessments, scientists now also have the ability to compare and understand the expression of thousands of genes simultaneously across strain, time, and exposure in developmental models. Using a systems-based approach in which we are able to evaluate information from various parts and levels of the developing organism, we propose a framework for integrating genetic information with toxicogenomic-based studies to better understand gene-environmental interactions critical for developmental disorders. This approach has allowed us to characterize candidate genes in the context of variables critical for determining susceptibility such as strain, time, and exposure. Using a combination of toxicogenomic studies and complementary bioinformatic tools, we characterize NTD candidate genes during normal development by function (gene ontology), linked phenotype (disease outcome), location, and expression (temporally and strain-dependent). In addition, we show how environmental exposures (cadmium, methylmercury) can influence expression of these genes in a strain-dependent manner. Using NTDs as an example of developmental disorder, we show how simple integration of genetic information from previous studies into the standard microarray design can enhance analysis of gene-environment interactions to better define environmental exposure-disease pathways in sensitive and resistant mouse strains. © Wiley-Liss, Inc.
Dragowski, Eliza A.; Scharron-del Rio, Maria R.; Sandigorsky, Amy L.
Childhood gender identity development is reviewed in the context of biological, environmental, cultural, and diagnostic factors. With the upcoming 5th revision of the "Diagnostic and Statistical Manual of Mental Disorders," the authors offer a critical consideration of childhood gender identity disorder, along with proposed diagnostic changes.…
McCormick, Carolyn; Hepburn, Susan; Young, Gregory S.; Rogers, Sally J.
Sensory symptoms are prevalent in autism spectrum disorder but little is known about the early developmental patterns of these symptoms. This study examined the development of sensory symptoms and the relationship between sensory symptoms and adaptive functioning during early childhood. Three groups of children were followed across three time…
Crowe, Marie; Inder, Maree; Joyce, Peter; Moor, Stephanie; Carter, Janet; Luty, Sue
This case study explains how a psychotherapy previously used with adults can be used with adolescents by focusing on the specific developmental issues associated with adolescence. Bipolar disorder is a damaging disorder to experience during the developmental phase of adolescence. Interpersonal social rhythm psychotherapy has been developed as an adjunct to medication for managing bipolar disorder and shows some promising outcomes in adults. This is a single case study design drawn from a larger randomised control trial of two psychotherapies for bipolar disorder. The case study addressed the question: How can Interpersonal social rhythm therapy be applied with adolescents who have bipolar disorder? This study used a purposeful sampling process by selecting the youngest adolescent participating in the randomised control trial. All the subject's sessions of Interpersonal social rhythm therapy were taped, transcribed and analysed. The analysis involved describing the process of psychotherapy as it occurred over time, mapping the process as a trajectory across the three phases of psychotherapy experience and focusing the analysis around the impact of bipolar disorder and IPSRT on adolescent developmental issues, specifically the issue of identity development. Interpersonal social rhythm therapy allowed the therapist to address developmental issues within its framework. As a result of participation in the psychotherapy the adolescent was able to manage her mood symptoms and develop a sense of identity that was age-appropriate. Interpersonal social rhythm therapy provided the adolescent in the case study the opportunity to consider what it meant to have bipolar disorder and to integrate this meaning into her sense of self. Bipolar disorder is a chronic and recurring disorder that can have a serious impact on development and functioning. Interpersonal social rhythm therapy provides an approach to nursing care that enables adolescents to improve social functioning.
Kaplow, Julie B; Layne, Christopher M; Pynoos, Robert S; Cohen, Judith A; Lieberman, Alicia
Two bereavement-related disorders are proposed for the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-V): Adjustment Disorder Related to Bereavement, to be located in the main body of the text as an official diagnostic entity; and Bereavement-Related Disorder, including a Traumatic Death Specifier, to be located in the Appendix as an invitation for further research. These diagnoses currently do not include developmentally informed criteria, despite the importance of developmental processes in the ways children and adolescents grieve. In this article, we draw upon a selective review of the empirical literature and expert clinical knowledge to recommend developmentally informed modifications and specifiers of the proposed criteria for both bereavement disorders and strategies to improve future research. This article is derived from an invited report submitted to the DSM-V Posttraumatic Stress Disorder, Trauma, and Dissociative Disorders Sub-Work Group, and suggested modifications have received preliminary approval to be incorporated into the DSM-V at the time of this writing. Adoption of these proposals will have far-reaching consequences, given that DSM-V criteria will influence both critical treatment choices for bereaved youth and the next generation of research studies.
Limperg, P. F.; Haverman, L.; Maurice-Stam, H.; Coppens, M.; Valk, C.; Kruip, M. J. H. A.; Eikenboom, J.; Peters, M.; Grootenhuis, M. A.
The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in Dutch young adults (YA) with
Limperg, P.F. (P. F.); L. Haverman (Lotte); H. Maurice-Stam (Heleen); M. Coppens; Valk, C. (C.); M.J.H.A. Kruip (Marieke); J.C.J. Eikenboom (Jeroen); M. Peters; M.A. Grootenhuis (Martha)
textabstractBackground: The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in
Cairney, John; Hay, John; Veldhuizen, Scott; Faught, Brent
Developmental coordination disorder (DCD) is a neuro-developmental disorder characterized by poor fine and/or gross motor coordination. Children with DCD are hypothesized to be at increased risk for overweight and obesity from inactivity due to their motor coordination problems. Although previous studies have found evidence to support this…
Shen, Jess J.; Lee, Phil Hyoun; Holden, Jeanette J.A.; Shatkay, Hagit
Pervasive Developmental Disorders (PDD) are neurodevelopmental disorders characterized by impairments in social interaction, communication and behavior.1 Given the diversity and varying severity of PDD, diagnostic tools attempt to identify homogeneous subtypes within PDD. Identifying subtypes can lead to targeted etiology studies and to effective type-specific intervention. Cluster analysis can suggest coherent subsets in data; however, different methods and assumptions lead to different resu...
Turygin, Nicole; Matson, Johnny L; Konst, Matthew; Williams, Lindsey
Parental concerns related to communication are an oft-cited reason that children present to early intervention clinics. We examine the relationship between early communication first concerns (FCs) and symptoms of ASD. The present study included 3173 toddlers at risk for developmental delay. The Battelle Developmental Inventory, 2nd edition and the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT) were used to examine developmental quotient scores and autism symptoms. Significant results were observed with respect to FC group and gender. A significant effect of FC-Communication group was observed with respect to developmental quotient overall and subscale scores, as well as autism symptom scores. Those with communication disorders are a heterogeneous population and do not account for all children who will meet criteria for a diagnosis of an ASD.
DCD11 Congress Delegates
Full Text Available CD11 – Developmental coordination disorder and other neurodevelopmental disorders: a focus on comorbidity; Toulouse, France, July 2-4, 2015 Comorbidity refers to the presence of two or more disorders in the same person (especially DCD, dyslexia and attention deficit hyperactivity disorder in terms of developmental disorders. There has been growing interest in the presence of comorbidity in persons with neurodevelopmental disorders. Many recent studies suggest that up to half of all individuals diagnosed with a psychiatric or neurodevelopmental disorder have more than one condition. Comorbidity not only impacts patient outcomes but can also create a significant strain on both family and school life. It can also complicate diagnosis and healthcare organization. The 11th congress on DCD aimed to address some of the important issues surrounding comorbidity in neurodevelopmental disorders. Three main topics were covered during oral and poster presentations: (1 assessment and diagnostic criteria, (2 underlying processes, causal factors, and prognostic markers, and (3 intervention and management of DCD and associated disorders.
Mark H Vickers
Full Text Available Obesity and the metabolic syndrome have reached epidemic proportions worldwide with far-reaching health care and economic implications. The rapid increase in the prevalence of these disorders suggests that environmental and behavioural influences, rather than genetic causes, are fuelling the epidemic. The developmental origins of health and disease hypothesis has highlighted the link between the periconceptual, fetal and early infant phases of life and the subsequent development of metabolic disorders in later life. In particular, the impact of poor maternal nutrition on susceptibility to later life metabolic disease in offspring is now well documented. Several studies have now shown, at least in experimental animal models, that some components of the metabolic syndrome, induced as a consequence of developmental programming, are potentially reversible by nutritional or targeted therapeutic interventions during windows of developmental plasticity. This review will focus on critical windows of development and possible therapeutic avenues that may reduce metabolic and obesogenic risk following an adverse early life environment.
Koyuncu, Ahmet; Alkın, Tunç; Tükel, Raşit
Social anxiety disorder (SAD) may develop secondary to childhood attention deficit/hyperactivity (ADHD) in a subgroup of the patients with SAD. Patients pass through a number of identifiable stages of developmental pathways to SAD as they grow up. Patients with ADHD have maladaptive behaviours in social settings due to the symptoms of ADHD. These behaviours are criticized by their parents and social circle; they receive insults, humiliation and bullying. After each aversive incident, the individual feels shame and guilt. A vicious cycle emerges. The patients then develop social fears and a cognitive inhibition that occurs in social situations. The inhibition increases gradually as the fear persists and the individual becomes withdrawn. Patients start to monitor themselves and to focus on others' feedback. Finally, performative social situations become extremely stimulating for them and may trigger anxiety/panic attacks. If this hypothesis is proven, treatment of 'patients with SAD secondary to ADHD' should focus on the primary disease. © 2016 John Wiley & Sons Australia, Ltd.
de Bildt, Annelies; Mulder, Erik J.; Scheers, Tom; Minderaa, Ruud B.; Tobi, Hilde
OBJECTIVE. This study investigated the interrelationship between psychopharmaco-therapy in general and the use of specific psychotropic drugs and pervasive developmental disorder and other behavior problems in children and adolescents with mental retardation. METHODS. A total of 862 participants 4
Hagopian, Louis P.; Kuhn, David E.; Strother, Geri E.
Social skills deficits are a defining feature of individuals diagnosed with autism and other pervasive developmental disorders (PDD), which can impair functioning and put the individual at higher risk for developing problem behavior (e.g., self-injury, aggression). In the current study, an adolescent with PDD displayed inappropriate social…
Conti-Ramsden, Gina; Durkin, Kevin; Toseeb, Umar; Botting, Nicola; Pickles, Andrew
Background: Developmental language disorder (DLD) presents a considerable barrier for young adults to engage in further education and training. Early studies with young adults with DLD revealed poor educational achievement and lack of opportunities to progress in education. More recent studies have provided more positive findings. Relatively…
Niemeijer, A.S.; Smits-Engelsman, B.C.M.; Schoemaker, M.M.
The aim of this study was to evaluate neuromotor task training (NTT), a recently developed child-centred and task-oriented treatment programme for children with developmental coordination disorder (DCD). A treatment and a non-treatment control group of children with DCD were included. Children were
Niemeijer, A. S.; Smits-Engelsman, B. C. M.; Schoemaker, M. M.
The aim of this study was to evaluate neuromotor task training (NTT), a recently developed child-centred and task-oriented treatment programme for children with developmental coordination disorder (DCD). A treatment and a non-treatment control group of children with DCD were included. Children were
Serra, M.; Minderaa, R.B; Van Geert, P. L. C.; Jackson, A.E.
This explorative study investigates differences in person perception abilities between a group of children diagnosed as having a Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) and a group of normal children of the same age and sex. Person perception, a social-cognitive skill,
Taylor, Julia V.; Gibson, Donna M.
Objective: The purpose of this article is to review a crisis intervention using the developmental-ecological protocol (Collins and Collins, 2005) with a college student presenting with symptomatology of an active eating disorder. Participants: Participants included University Wellness Center employees responding to the crisis. Methods: Methods…
Frick, Paul J.
Research has indicated that there are several common pathways through which children and adolescents develop conduct disorder, each with different risk factors and each with different underlying developmental mechanisms leading to the child's aggressive and antisocial behavior. The current article briefly summarizes research on these pathways,…
Oeseburg, B.; Groothoff, J. W.; Dijkstra, G. J.; Reijneveld, S. A.; Jansen, D. E. M. C.
Evidence on the association between somatic chronic diseases in ID-adolescents and the full range of pervasive developmental disorder behavior (PDD behavior) is scarce. The aim of the present study is to assess the association between somatic chronic diseases in ID-adolescents and mild PDD behavior. We obtained data on 1044 ID-adolescents, aged…
Saban-Bezalel, Ronit; Mashal, Nira
Previous studies on individuals with pervasive developmental disorders (PDD) have pointed to difficulties in comprehension of figurative language. Using the divided visual field paradigm, the present study examined hemispheric processing of idioms and irony in 23 adults with PDD and in 24 typically developing (TD) adults. The results show that…
Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva
The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…
Schoemaker, M.M.; Niemeijer, A.S.; Reynders, K.; Smits-Engelsman, B.C.
The aim of this pilot study was to evaluate the effectiveness of a Neuromotor Task Training (NTT), recently developed for the treatment of children with Developmental Coordination Disorder (DCD) by pediatric physical therapists in the Netherlands. NTT is a task-oriented treatment program based upon
Hollway, Jill A.; Aman, Michael G.
Sleep disturbance is a significant problem in the general pediatric population, and it occurs even more frequently in children with pervasive developmental disorders (PDDs). Much time and energy have been spent examining the characteristics that predispose children to insomnia and it is likely that equivalent factors influence sleep in PDDs.…
van Swieten, Lisa M.; van Bergen, Elsje; Williams, Justin H G; Wilson, Andrew D.; Plumb, Mandy S.; Kent, Samuel W.; Mon-Williams, Mark A.
Grip selection tasks have been used to test "planning" in both autism and developmental coordination disorder (DCD). We differentiate between motor and executive planning and present a modified motor planning task. Participants grasped a cylinder in 1 of 2 orientations before turning it clockwise or
van Swieten, L.M.; van Bergen, E.; Williams, J.H.G.; Wilson, A.D.; Plumb, M.S.; Kent, S.W.; Mon-Williams, M.A.
Grip selection tasks have been used to test "planning" in both autism and developmental coordination disorder (DCD). We differentiate between motor and executive planning and present a modified motor planning task. Participants grasped a cylinder in 1 of 2 orientations before turning it clockwise or
Konrad, Marcel; Drosselmeyer, Julia; Kostev, Karel
Aims: The aims of this study were to assess how many patients received occupational therapy after diagnosis of developmental disorder (DD) in child psychiatrist practices in Germany and which factors influenced the prescription of occupational therapy. Methods: This study was a retrospective database analysis in Germany utilising the Disease…
Caçola, Priscila; Romero, Michael
Developmental coordination disorder (DCD) affects 2-7 percent of school-age children and is characterized by low motor proficiency associated with poor balance, coordination and handwriting skills. Because of their motor difficulties, children with DCD suffer from anxiety, low self-esteem and are often less sociable than typically developing…
Valdois, Sylviane; Lassus-Sangosse, Delphine; Lobier, Muriel
Poor parallel letter-string processing in developmental dyslexia was taken as evidence of poor visual attention (VA) span, that is, a limitation of visual attentional resources that affects multi-character processing. However, the use of letter stimuli in oral report tasks was challenged on its capacity to highlight a VA span disorder. In…
Oeseburg, B.; Groothoff, J. W.; Dijkstra, G. J.; Reijneveld, S. A.; Jansen, D. E. M. C.
Evidence on the association between somatic chronic diseases in ID-adolescents and the full range of pervasive developmental disorder behavior (PDD behavior) is scarce. The aim of the present study is to assess the association between somatic chronic diseases in ID-adolescents and mild PDD behavior.
Paula, Cristiane S.; Ribeiro, Sabrina H.; Fombonne, Eric; Mercadante, Marcos T.
This pilot study presents preliminary results concerning the prevalence of Pervasive Developmental Disorder (PDD) in South America. It was a three-phase study conducted in a typical town in Southeast Brazil. Case definition was based in a combination of standardized instruments and clinical evaluations by experts. The prevalence of PDD was…
Wakimizu, Rie; Fujioka, Hiroshi; Yoneyama, Akira; Iejima, Atsushi; Miyamoto, Shinya
We identified factors associated with the empowerment of Japanese families using the Family Empowerment Scale (FES) to contribute to the improvement of empowerment in Japanese families raising a child with developmental disorders (DDs). The study was conducted in 350 caregivers who raised children aged 4-18 years with DDs in urban and suburban…
Owley, Thomas; Walton, Laura; Salt, Jeff; Guter, Stephen J., Jr.; Winnega, Marrea; Leventhal, Bennett L.; Cook, Edwin H., Jr.
Objective: To assess the effect of escitalopram in the treatment of pervasive developmental disorders (PDDs). Method: This 10-week study had a forced titration, open-label design. Twenty-eight subjects (mean age 125.1 [+ or -] 33.5 months) with a PDD received escitalopram at a dose that increased weekly to a maximum dose of 20 mg as tolerated. The…
Cheng, Yufang; Huang, Ruowen
The focus of this study is using data glove to practice Joint attention skill in virtual reality environment for people with pervasive developmental disorder (PDD). The virtual reality environment provides a safe environment for PDD people. Especially, when they made errors during practice in virtual reality environment, there is no suffering or…
Terband, H.; Maassen, B.; van Lieshout, P.; Nijland, L.
The aim of this study was to investigate the consistency and composition of functional synergies for speech movements in children with developmental speech disorders. Kinematic data were collected on the reiterated productions of syllables spa (/spa:/) and paas (/pa:s/) by 10 6- to 9-year-olds with
Alloway, Tracy Packiam; Archibald, Lisa
The authors compared 6- to 11-year-olds with developmental coordination disorder (DCD) and those with specific language impairment (SLI) on measures of memory (verbal and visuospatial short-term and working memory) and learning (reading and mathematics). Children with DCD with typical language skills were impaired in all four areas of memory…
Wlodarczyk, Julian; Lawn, Sharon
Victimisation is a traumatic experience linked to development of Borderline personality disorder (BPD). However, there is limited research investigating the developmental journey prior to BPD diagnosis. School environments offer an opportunity for BPD prevention and early intervention. A survey with 19 Australian family carers of people with BPD…
Serra, M.; Minderaa, R.B; Van Geert, P. L. C.; Jackson, A.E.; Althaus, M.; Til, R.
Seven to 12-year-old children with a Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) were compared with normal, healthy children of the same age and sex on three different emotional role-taking tasks. In these tasks, children had to use person-specific information to make an
Asonitou, Katerina; Koutsouki, Dimitra; Kourtessis, Thomas; Charitou, Sofia
The current study adopts the PASS theory of information processing to investigate the probable differences in specific motor and cognitive abilities between children with and without developmental coordination disorder (DCD). Participants were 108 5- and 6-year-old preschoolers (54 children with DCD and 54 children without DCD). The Movement…
Chang, Shao-Hsia; Yu, Nan-Ying
Aim: The purpose of this study was to characterize handwriting deficits in children with developmental coordination disorder (DCD) using computerized movement analyses. Method: Seventy-two children (40 females, 32 males; mean age 7y, SD 7mo; range 6y 2mo to 7y 11mo) with handwriting deficits (33 with DCD, 39 without DCD); and 22 age- and…
Katz, Gregorio; Corona, Edgar; Lazcano-Ponce, Eduardo
This paper describes an innovative institution, Capacitación y Desarrollo Integral AC (CADI - Comprehensive Training and Development), created in Mexico to develop evidence-based interventions grounded in the principles of inclusion, independence, social and health equity that promote the well-being of persons with intellectual developmental disorder older than 14 years.
Akshoomoff, Natacha; Farid, Nikdokht; Courchesne, Eric; Haas, Richard
This study examined the nature and frequency of neurological and EEG abnormalities in 60 young children (ages 2-6 years) with pervasive developmental disorders. A number of standard neurological functions could not be adequately assessed due to the young age of the children and/or limited comprehension and cooperation. The most common neurological…
Sadhu, Raja; Mehta, Manju; Kalra, Veena; Sagar, Rajesh; Mongia, Monica
Aim: To compare the occurrence of neurological soft signs (NSS) in children with specific developmental disorders of scholastic skills (SDDSS) and normal children. Methods: 36 cases of SDDSS were compared with 30 control children regarding sociodemographic and clinical variables and neurological soft signs. Results: Children with SDDSS had…
Ebbels, Susan H.; Wright, Lisa; Brockbank, Sally; Godfrey, Caroline; Harris, Catherine; Leniston, Hannah; Neary, Kate; Nicoll, Hilary; Nicoll, Lucy; Scott, Jackie; Maric, Nataša
Background: Evidence of the effectiveness of therapy for older children with (developmental) language disorder (DLD), and particularly those with receptive language impairments, is very limited. The few existing studies have focused on particular target areas, but none has looked at a whole area of a service. Aims: To establish whether for…
de Oliveira, Rita F.; Wann, John P.
In two experiments, we used an automatic car simulator to examine the steering control, speed regulation and response to hazards of young adults with developmental coordination disorder (DCD) and limited driving experience. In Experiment 1 participants either used the accelerator pedal to regulate their speed, or used the brake pedal when they…
Zhu, Yi-Ching; Wu, Sheng K.; Cairney, John
The purpose of this study was to investigate the associations between obesity and motor coordination ability in Taiwanese children with and without developmental coordination disorder (DCD). 2029 children (1078 boys, 951 girls) aged nine to ten years were chosen randomly from 14 elementary schools across Taiwan. We used bioelectrical impedance…
Biancotto, Marina; Skabar, Aldo; Bulgheroni, Maria; Carrozzi, Marco; Zoia, Stefania
Developmental coordination disorder (DCD) has been classified as a specific learning disability, nonetheless the underlying cognitive mechanisms are still a matter of discussion. After a summary of the main hypotheses on the principal neuromotor causes of DCD, this study applies a causal model framework to describe the possible coexistence of more…
Ruscello, Dennis M.
Purpose: This article examines nonspeech oral motor treatments (NSOMTs) in the population of clients with developmental speech sound disorders. NSOMTs are a collection of nonspeech methods and procedures that claim to influence tongue, lip, and jaw resting postures; increase strength; improve muscle tone; facilitate range of motion; and develop…
Adams, I.L.; Steenbergen, B.; Lust, J.M.; Smits-Engelsman, B.C.
BACKGROUND: Previous studies have shown that the predictive control of movements is impaired in children with Developmental Coordination Disorder (DCD), most likely due to a deficit in the internal modeling of movements. Motor imagery paradigms have been used to test this internal modeling deficit.
Adams, I.L.J.; Steenbergen, B.; Lust, J.M.; Smits-Engelsman, B.C.M.
Background: Previous studies have shown that the predictive control of movements is impaired in children with Developmental Coordination Disorder (DCD), most likely due to a deficit in the internal modeling of movements. Motor imagery paradigms have been used to test this internal modeling deficit.
Adams, I.L.; Ferguson, G.D.; Lust, J.M.; Steenbergen, B.; Smits-Engelsman, B.C.M.
The present study examined action planning and position sense in children with Developmental Coordination Disorder (DCD). Participants performed two action planning tasks, the sword task and the bar grasping task, and an active elbow matching task to examine position sense. Thirty children were
Detection of children with a developmental disorder, such as cerebral palsy, at an early age is notoriously difficult. Recently, a new form of neuromotor assessment of young infants was developed, based on the assessment of the quality of general movements (GMs). GMs are movements of the fetus and
Lee, Joanna C.
Background: Two reasons may explain the discrepant findings regarding declarative memory in developmental language disorder (DLD) in the literature. First, standardized tests are one of the primary tools used to assess declarative memory in previous studies. It is possible they are not sensitive enough to subtle memory impairment. Second, the…
Rhoad-Drogalis, Anna; Justice, Laura M.; Sawyer, Brook E.; O'Connell, Ann A.
Background: Children with developmental language disorders (DLDs) often struggle with classroom behaviour. No study has examined whether positive teacher-child relationships may act as a protective factor for children with DLDs in that these serve to enhance children's important classroom-learning behaviours. Aims: To examine the association…
Uono, Shota; Sato, Wataru; Toichi, Motomi
Individuals with pervasive developmental disorder (PDD) have difficulty with social communication via emotional facial expressions, but behavioral studies involving static images have reported inconsistent findings about emotion recognition. We investigated whether dynamic presentation of facial expression would enhance subjective perception of…
Serra, M; Althaus, M; de Sonneville, LMJ; Stant, AD; Jackson, AE; Minderaa, RB
This study investigates the accuracy and speed of face recognition in children with a Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS; DSM-IV, American Psychiatric Association [APA], 1994). The study includes a clinical group of 26 nonretarded 7- to 10-year-old children with PDDNOS
Swank, L K
The goal of this article is to inform and educate those who work with children who present with language-learning disorders about phonologic processing deficits, because this area has been shown to have a significant impact on children and adults who exhibit reading disabilities. Mental health professionals who work with children with reading problems need to be aware of what is known about this source of reading disorders and the implications of this knowledge for prevention and treatment. Advocating for appropriate instruction for children with reading problems is an important role mental health professionals can play in working with this population.
Snowling, Margaret J.
In 1990 Gathercole and Baddeley proposed a strong hypothesis that has generated a wealth of research in the field of language development and disorder. The hypothesis was that phonological memory, as indexed by nonword repetition, is causally related to vocabulary development. Support for the hypothesis came from an impressive range of…
This article argues that one dominant position in psychology, linguistics, neuroscience, and philosophy about how genetic disorders point to the innate specification of dissociated modules in the human brain should be replaced by a dynamic, neuroconstructivist approach in which genes, brain, cognition, and environment interact multidirectionally.…
Eigsti, Inge-Marie; de Marchena, Ashley B.; Schuh, Jillian M.; Kelley, Elizabeth
This paper reviews the complex literature on language acquisition in the autism spectrum disorders (ASD). Because of the high degree of interest in ASD in the past decade, the field has been changing rapidly, with progress in both basic science and applied clinical areas. In addition, psycholinguistically-trained researchers have increasingly…
Terband, H.R.; van Brenk, F.J.; van Doornik-van der Zee, J.C.
Background/purpose: Several studies indicate a close relation between auditory and speech motor functions in children with speech sound disorders (SSD). The aim of this study was to investigate the ability to compensate and adapt for perturbed auditory feedback in children with SSD compared to
Elberling, Hanne; Linneberg, Allan; Olsen, Else Marie
of autism spectrum disorders were problems of oral-motor development OR 5.02 (95% CI: 1.63-15.42) and overall development OR 4.24 (95% CI: 1.35-13.33). A deviant pattern of activity and interests were predictive of autism spectrum disorder, OR 5.34 (95% CI 1.45-19.70) and hyperkinetic disorder, OR 4.71 (95......% CI: 1.28-17.39). Hyperkinetic disorder was furthermore predicted by mother-infant relationship problems, OR 8.07 (95% CI: 2.90-22.47). The significant associations between infant developmental problems and autism spectrum disorders persisted in multiple logistic regression analyses controlled.......20 (95% CI: 1.55-17.47). No significant infancy predictors were found regarding emotional and behavioural disorders at age 5-7 years. CONCLUSION: Predictors of autism spectrum/pervasive developmental disorders and hyperkinetic disorders at child age 5-7 years were identified between birth and child age...
Mouridsen, Svend Erik Birkebæk; Hauschild, K.M.
The prevalence and types of schizophrenia- and affective spectrum disorders were studied in 469 individuals with a developmental language disorder (DLD), assessed in the same clinic during a period of 10 years, and 2,345 controls from the general population. All participants were screened through...... the nationwide Danish Psychiatric Central Register (DPCR). The mean length of follow-up was 34.7 years, and the mean age at follow-up 35.8 years. The results show an excess of schizophrenia spectrum disorders (F20-F29) within participants with DLD when compared with controls from the overall population (6.4% vs....... 1.8%; P disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective...
Nadon, G; Ehrmann Feldman, D; Gisel, E
Current evaluations used by occupational therapists to assess and treat feeding problems derive mainly from the domain of dysphagia. The purpose of this article is to familiarize the reader with tools used, in research, for children with pervasive developmental disorders (PDD) and to determine if any of these meet the needs of occupational therapists. The following data bases were searched: Medline, CINAHL, HAPI and PsyINFO, using the terms pervasive developmental disorder, autism, Asperger syndrome, pervasive developmental disorder not otherwise specified, eating behavior, eating disorder, food preference, food selectivity, feeding disorders, picky eater and child. All articles published between 1980 and 2006 (n=27) were reviewed. A total of 20 studies met our selection criteria. Assessment methods are compared using the Disability Creation Model (DCP). The DCP is the Quebec alternative to the International Classification of Functioning, Disability and Health (ICF). None of the evaluation tools reviewed met all factors that may influence eating in children with PDD. Implications for research and practice in occupational therapy are discussed.
Olson, Ingrid R; Von Der Heide, Rebecca J; Alm, Kylie H; Vyas, Govinda
The uncinate fasciculus (UF) is a long-range white matter tract that connects limbic regions in the temporal lobe to the frontal lobe. The UF is one of the latest developing tracts, and continues maturing into the third decade of life. As such, individual differences in the maturational profile of the UF may serve to explain differences in behavior. Indeed, atypical macrostructure and microstructure of the UF have been reported in numerous studies of individuals with developmental and psychiatric disorders such as social deprivation and maltreatment, autism spectrum disorders, conduct disorder, risk taking, and substance abuse. The present review evaluates what we currently know about the UF's developmental trajectory and reviews the literature relating UF abnormalities to specific disorders. Additionally, we take a dimensional approach and critically examine symptoms and behavioral impairments that have been demonstrated to cluster with UF aberrations, in an effort to relate these impairments to our speculations regarding the functionality of the UF. We suggest that developmental disorders with core problems relating to memory retrieval, reward and valuation computation, and impulsive decision making may be linked to aberrations in uncinate microstructure. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.
Kapornai, Krisztina; Gentzler, Amy L; Tepper, Ping; Kiss, Eniko; Mayer, László; Tamás, Zsuzsanna; Kovacs, Maria; Vetró, Agnes
We investigate the relations of early atypical characteristics (perinatal problems, developmental delay, and difficult temperament) and onset-age (as well as severity of) first major depressive disorder (MDD) and first internalizing disorder in a clinical sample of depressed children in Hungary. Participants were 371 children (ages 7-14) with MDD, and their biological mothers, recruited through multiple clinical sites. Diagnoses (via DSM-IV criteria) and onset dates of disorders were finalized "best estimate" psychiatrists, and based on multiple information sources. Mothers provided developmental data in a structured interview. Difficult temperament predicted earlier onset of MDD and first internalizing disorder, but its effect was ameliorated if the family was intact during early childhood. Further, the importance of difficult temperament decreased as a function of time. Perinatal problems and developmental delay did not impact onset ages of disorders, and none of the early childhood characteristics associated with MDD episode severity. Children with MDD may have added disadvantage of earlier onset if they had a difficult temperament in infancy. Because early temperament mirrors physiological reactivity and regulatory capacity, it can affect various areas of functioning related to psychopathology. Early caregiver stability may attenuate some adverse effects of difficult infant temperament.
Ingrid R. Olson
Full Text Available The uncinate fasciculus (UF is a long-range white matter tract that connects limbic regions in the temporal lobe to the frontal lobe. The UF is one of the latest developing tracts, and continues maturing into the third decade of life. As such, individual differences in the maturational profile of the UF may serve to explain differences in behavior. Indeed, atypical macrostructure and microstructure of the UF have been reported in numerous studies of individuals with developmental and psychiatric disorders such as social deprivation and maltreatment, autism spectrum disorders, conduct disorder, risk taking, and substance abuse. The present review evaluates what we currently know about the UF's developmental trajectory and reviews the literature relating UF abnormalities to specific disorders. Additionally, we take a dimensional approach and critically examine symptoms and behavioral impairments that have been demonstrated to cluster with UF aberrations, in an effort to relate these impairments to our speculations regarding the functionality of the UF. We suggest that developmental disorders with core problems relating to memory retrieval, reward and valuation computation, and impulsive decision making may be linked to aberrations in uncinate microstructure.
Pontifex, Matthew B; Fine, Jodene G; da Cruz, Katelin; Parks, Andrew C; Smith, Alan L
Emerging research suggests that physical activity may be an effective non-pharmaceutical intervention approach for childhood developmental disorders. Findings indicate that both single bouts of activity and chronic physical activity associate with improved mental health and classroom performance in children with attention-deficit/hyperactivity disorder and children with autism spectrum disorders. This review describes the research in this area and identifies limitations and challenges to the translation of these findings to promote physical activity in clinical practice and educational policy. © 2014 The Society for Research in Child Development, Inc.
Full Text Available Children suffering from intellectual deficiency and disorders arising from such a condition tend to be provided with a specific form of education, depending on the deficiency type and degree. Apart from the disorder itself, the acquisition of knowledge, skills and learning habits depends on the children’s motivation for learning, as well as the accessibility of the computer. When used in conformance with pedagogical, didactic and clinical standards, the computer as an educational aid may prove helpful for education and training of children with developmental disorders. Using computers also enables communication and fosters communication skills resulting in the development of self-confidence.
The study of language knowledge guided by a purely biological perspective prioritizes the study of syntax. The essential process of syntax is recursion--the ability to generate an infinite array of expressions from a limited set of elements. Researchers working within the biological perspective argue that this ability is possible only because of an innately specified genetic makeup that is specific to human beings. Such a view of language knowledge may be fully justified in discussions on biolinguistics, and in evolutionary biology. However, it is grossly inadequate in understanding language-learning problems, particularly those experienced by children with neurodevelopmental disorders such as developmental dyslexia, Williams syndrome, specific language impairment and autism spectrum disorders. Specifically, syntax-centered definitions of language knowledge completely ignore certain crucial aspects of language learning and use, namely, that language is embedded in a social context; that the role of envrironmental triggering as a learning mechanism is grossly underestimated; that a considerable extent of visuo-spatial information accompanies speech in day-to-day communication; that the developmental process itself lies at the heart of knowledge acquisition; and that there is a tremendous variation in the orthographic systems associated with different languages. All these (socio-cultural) factors can influence the rate and quality of spoken and written language acquisition resulting in much variation in phenotypes associated with disorders known to have a genetic component. Delineation of such phenotypic variability requires inputs from varied disciplines such as neurobiology, neuropsychology, linguistics and communication disorders. In this paper, I discuss published research that questions cognitive modularity and emphasises the role of the environment for understanding linguistic capabilities of children with neuro-developmental disorders. The discussion pertains
VanDenHeuvel, A.; Fitzgerald, M.; Greiner, Birgit A.; Perry, Ivan J.
VanDenHeuvel A, Fitzgerald M, Greiner B, Perry IJ. Screening for autistic spectrum disorder at the 18-month developmental assessment: a population-based study. Ir Med J. 2007;100(8):565-7. The objectives of this study were to assess the feasibility of administering the CHecklist for Autism in Toddlers (CHAT) at the 18-month developmental check, estimate the prevalence of screening positive for autism at the first and second administrations of the CHAT and estimate the prevalence of diagnos...
McCarroll, Steven A; Feng, Guoping; Hyman, Steven E
Genetic analysis is currently offering glimpses into molecular mechanisms underlying such neuropsychiatric disorders as schizophrenia, bipolar disorder and autism. After years of frustration, success in identifying disease-associated DNA sequence variation has followed from new genomic technologies, new genome data resources, and global collaborations that could achieve the scale necessary to find the genes underlying highly polygenic disorders. Here we describe early results from genome-scale studies of large numbers of subjects and the emerging significance of these results for neurobiology.
Background The current study sought to compare levels of overprotection and parenting stress reported by caregivers of children with disorders of sex development at four different developmental stages. Methods Caregivers (N = 59) of children with disorders of sex development were recruited from specialty clinics and were asked to complete the Parent Protection Scale and Parenting Stress Index/Short Form as measures of overprotective behaviors and parenting stress, respectively. Results Analyses of covariance (ANCOVAs) were conducted to examine differences between caregiver report of overprotection and parenting stress. Results revealed that caregivers of infants and toddlers exhibited more overprotective behaviors than caregivers of children in the other age groups. Further, caregivers of adolescents experienced significantly more parenting stress than caregivers of school-age children, and this effect was driven by personal distress and problematic parent-child interactions, rather than having a difficult child. Conclusions These results suggest that caregivers of children with disorders of sex development may have different psychosocial needs based upon their child's developmental stage and based upon the disorder-related challenges that are most salient at that developmental stage. PMID:22074416
Hullmann Stephanie E
Full Text Available Abstract Background The current study sought to compare levels of overprotection and parenting stress reported by caregivers of children with disorders of sex development at four different developmental stages. Methods Caregivers (N = 59 of children with disorders of sex development were recruited from specialty clinics and were asked to complete the Parent Protection Scale and Parenting Stress Index/Short Form as measures of overprotective behaviors and parenting stress, respectively. Results Analyses of covariance (ANCOVAs were conducted to examine differences between caregiver report of overprotection and parenting stress. Results revealed that caregivers of infants and toddlers exhibited more overprotective behaviors than caregivers of children in the other age groups. Further, caregivers of adolescents experienced significantly more parenting stress than caregivers of school-age children, and this effect was driven by personal distress and problematic parent-child interactions, rather than having a difficult child. Conclusions These results suggest that caregivers of children with disorders of sex development may have different psychosocial needs based upon their child's developmental stage and based upon the disorder-related challenges that are most salient at that developmental stage.
Alexithymia, depression and anxiety in parents of children with neurodevelopmental disorder: Comparative study of autistic disorder, pervasive developmental disorder not otherwise specified and attention deficit-hyperactivity disorder.
Durukan, İbrahim; Kara, Koray; Almbaideen, Mahmoud; Karaman, Dursun; Gül, Hesna
Recent studies have shown that individuals with neurodevelopmental disorders and their relatives have problems expressing and recognizing emotions, but there is a lack of studies on alexithymia, and the relationship between parental alexithymia and depression-anxiety symptoms in these groups. The aim of this study was therefore to measure alexithymia, depression, and anxiety levels in parents of children with pervasive developmental disorders and attention deficit-hyperactivity disorder (ADHD), and determine whether there is a positive correlation between the child's neurodevelopmental problem severity and parent scores. Parents of 29 autistic disorder (AD), 28 pervasive developmental disorder not otherwise specified (PDD-NOS) and 29 ADHD children were recruited into the study, and completed a demographic information form, as well as the Toronto Alexithymia Scale (TAS-20), Beck Depression Inventory, and State-Trait Anxiety Inventory. Alexithymia symptoms were higher in parents of children with AD than in others but unexpectedly, also these symptoms were higher in ADHD parents than in PDD-NOS groups. In addition, there were unexpected differences according to alexithymia subtype, while only the difference in maternal TAS-1 scores (difficulty in describing feelings) were statistically significant. Parental depression and state anxiety scores were increased as the child's symptom severity increased, but trait anxiety symptoms were higher in the AD and ADHD group than in the PDD-NOS group. In all groups, maternal depression and anxiety scores were higher than paternal scores, and differences were significant for depression and anxiety types in AD, and for only anxiety types in ADHD parents. The AD group had the strongest correlation between parental depression-anxiety and alexithymia. The possibility of alexithymia, depression and anxiety should be kept in mind when working with parents of children with neurodevelopmental disorders. © 2017 Japan Pediatric Society.
Motoyama, Kazunori; Matsuzaka, Tetsuo; Nagaoka, Tamao; Matsuo, Mitsuhiro
Mothers of 18 children with attention deficit/hyperactivity disorders (AD/HD) and 6 with pervasive developmental disorders (PDD) underwent a parent training (PT) program. After the program, the Beck Depression Inventory- II (BDI - II) score, which indicates parenting stress, significantly decreased from 15 to 8 (p=0.036). A total of 22 mothers had increased parenting self-esteem, and better parent-child relationships were noted in these cases. An analysis of children's behavior by using Achenbach's Child Behavior Checklist showed that introversion tendency, physical failure, aggressive behavior, and extroversion score improved significantly after PT (pparenting skills of mothers and adaptive behaviors of children.
Mouridsen, Svend-Erik; Hauschild, Karen-Marie
Traditionally developmental language disorders (DLDs) have been studied with focus on psycholinguistic and cognitive implications, and little is known of the long-term psychosocial outcomes of individuals diagnosed with a DLD as children. The objective of this study was to compare the prevalence...... rates and types of personality disorders (PDs) in a clinical sample of 469 individuals diagnosed as children with DLD, with PDs in 2,345 matched controls from the general population without a known history of DLD, using data from the nation-wide Danish Psychiatric Central Register (DPCR). The average...... disorder, and degree of receptive and expressive language disorder) were not associated with a PD diagnosis in the DPCR at follow-up. Our results provide additional support to the notion that DLD is a marker of increased vulnerability to the development of a PD in adulthood and emphasizes that more...
Guilherme V. Polanczyk
Full Text Available INTRODUÇÃO: A psicopatologia desenvolvimental é uma disciplina que integra perspectivas epidemiológicas, sociais, genéticas, desenvolvimentais e de psicopatologia para entender as origens e o curso dos transtornos mentais. Neste artigo, são discutidos abordagens e conceitos utilizados para compreender as origens desenvolvimentais dos transtornos mentais. RESULTADOS: A psicopatologia desenvolvimental entende que os transtornos mentais são possíveis desfechos do processo de desenvolvimento e são dependentes de influências sociais, genéticas e ambientais. Esses diversos fatores estão inter-relacionados de diferentes formas e em diferentes níveis, exercendo um efeito dimensional. São discutidos: a abordagens para determinar causalidade entre eventos ambientais e transtornos mentais; b a importância de entendimento dos mecanismos biológicos através dos quais fatores ambientais e genéticos atuam; c fatores genéticos predizendo a exposição a estressores ambientais; e d fatores genéticos moderando o efeito de estressores ambientais. CONCLUSÕES: As origens dos transtornos mentais podem ser iluminadas por dados de estudos que utilizam enfoques e conceitos complementares e que integrem influências sociais, genéticas, ambientais e desenvolvimentais.INTRODUCTION: Developmental psychopathology is a discipline that integrates epidemiological, social, genetic, developmental, and psychopathological perspectives to understand the origins and courses of mental disorders. In the present paper, theoretical concepts and approaches applied with the purpose of understanding the developmental origins of mental disorders are discussed. RESULTS: According to developmental psychopathology, mental disorders are possible outcomes of the developmental process that depend upon social, genetic, and environmental influences. These factors are linked in different ways and levels, exerting a dimensional effect. The following factors are addressed: a
Mouridsen, Svend Erik; Hauschild, Karen-Marie
There is a well documented predominance of males diagnosed with neurodevelopmental disorders. The influence of sex steroids upon brain development has been suggested to mediate sex differences in developmental psychopathology, and has been epitomized in the 'extreme male brain theory......'. The objective of this study was to extend previous studies dealing with the extreme male brain theory and to study the sex ratio (proportion of males) in the siblings of 469 individuals with a developmental language disorder (DLD) who were consecutively assessed in the same clinic during a period of 10 years....... Among their 908 live-born siblings, 503 were males and 405 females. This yields a sex ratio of 0.554, which is significantly higher than the Danish live birth sex ratio of 0.514 over the same period (P = 0.02). Our findings are consistent with the hypothesis that male sex hormones may be implicated...
Lahey, Benjamin B.; Applegate, Brooks; Chronis, Andrea M.; Jones, Heather A.; Williams, Stephanie Hall; Loney, Jan; Waldman, Irwin D.
Lahey and Waldman proposed a developmental propensity model in which three dimensions of children's emotional dispositions are hypothesized to transact with the environment to influence risk for conduct disorder, heterogeneity in conduct disorder, and comorbidity with other disorders. To prepare for future tests of this model, a new measure of…
Full Text Available Aim: Praxis assessment in children with developmental coordination disorder (DCD is usually based on tests of adult apraxia, by comparing across types of gestures and input modalities. However, the cognitive models of adult praxis processing are rarely used in a comprehensive and critical interpretation. These models generally involve two systems: a conceptual system and a production system. Heterogeneity of deficits is consistently reported in DCD, involving other cognitive skills such as executive or visual-perceptual and visuospatial functions. Surprisingly, few researches examined the impact of these functions in gestural production. Our study aimed at discussing the nature and specificity of the gestural deficit in DCD using a multiple case study approach.Method: Tasks were selected and adapted from protocols proposed in adult apraxia, in order to enable a comprehensive assessment of gestures. This included conceptual tasks (knowledge about tool functions and actions; recognition of gestures, representational (transitive, intransitive, and non-representational gestures (imitation of meaningless postures. We realized an additional assessment of constructional abilities and other cognitive domains (executive functions, visual-perceptual and visuospatial functions. Data from 27 patients diagnosed with DCD were collected. Neuropsychological profiles were classified using an inferential clinical analysis based on the modified t-test, by comparison with 100 typically developing children divided into five age groups (from 7 to 13 years old.Results: Among the 27 DCD patients, we first classified profiles that are characterized by impairment in tasks assessing perceptual visual or visuospatial skills (n = 8. Patients with a weakness in executive functions (n = 6 were then identified, followed by those with an impaired performance in conceptual knowledge tasks (n = 4. Among the nine remaining patients, six could be classified as having a visual
Jason L. He; Ian Fuelscher; Peter G. Enticott; Wei-peng Teo; Pamela Barhoun; Christian Hyde
IntroductionWhile the etiology of developmental coordination disorder (DCD) is yet to be established, brain-behavior modeling provides a cogent argument that neuropathology may subserve the motor difficulties typical of DCD. We argue that a number of the core behavioral features of the DCD profile (such as poor surround inhibition, compromised motor inhibition, and the presence of mirror movements) are consistent with difficulties regulating inhibition within the primary motor cortex (M1). Th...
Crain, D.A.; Janssen, S.J.; Edwards, T.M.
OBJECTIVE: To evaluate the possible role of endocrine-disrupting compounds (EDCs) on female reproductive disorders emphasizing developmental plasticity and the complexity of endocrine-dependent ontogeny of reproductive organs. Declining conception rates and the high incidence of female reproducti...... reproductive dysfunction together with tools to assess the specific exposures and methods to block their effects. This review of the EDC literature as it relates to female health provides an important platform on which women's health can be improved Udgivelsesdato: 2008/10...
Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia
Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on…
Hamdani, Syed Usman; Minhas, Fareed Aslam; Iqbal, Zafar; Rahman, Atif
As in many low-income countries, the treatment gap for developmental disorders in rural Pakistan is near 100%. We integrated social, technological, and business innovations to develop and pilot a potentially sustainable service for children with developmental disorders in 1 rural area. Families with developmental disorders were identified through a mobile phone-based interactive voice response system, and organized into "Family Networks." "Champion" family volunteers were trained in evidence-based interventions. An Avatar-assisted Cascade Training and information system was developed to assist with training, implementation, monitoring, and supervision. In a population of ∼30,000, we successfully established 1 self-sustaining Family Network consisting of 10 trained champion family volunteers working under supervision of specialists, providing intervention to 70 families of children with developmental disorders. Each champion was responsible for training and providing ongoing support to 5 to 7 families from his or her village, and the families supported each other in management of their children. A pre-post evaluation of the program indicated that there was significant improvement in disability and socioemotional difficulties in the child, reduction in stigmatizing experiences, and greater family empowerment to seek services and community resources for the child. There was no change in caregivers' well-being. To replicate this service more widely, a social franchise model has been developed whereby the integrated intervention will be "boxed" up and passed on to others to replicate with appropriate support. Such integrated social, technological, and business innovations have the potential to be applied to other areas of health in low-income countries. Copyright © 2015 by the American Academy of Pediatrics.
Landa, Rebecca J.; Stuart, Elizabeth A.; Gross, Alden L.; Faherty, Ashley
Retrospective studies indicate 2 major classes of autism spectrum disorder (ASD) onset: early and later, after a period of relatively healthy development. This prospective, longitudinal study examined social, language, and motor trajectories in 235 children with and without a sibling with autism, ages 6–36 months. Children were grouped as: ASD identified by 14 months, ASD identified after 14 months, and no ASD. Despite groups’ initial similar developmental level at 6 months, ASD groups exhibi...
Song, Jieun; Mailick, Marsha R.; Ryff, Carol D.; Coe, Christopher L.; Greenberg, Jan S.; Hong, Jinkuk
This study examines whether parents of children with developmental disorders (DD) are at risk for elevated allostatic load (AL) relative to control parents, and whether positive affect moderates difference in risk. Thirty-eight parents of children with DD and 38 matched comparison parents were analyzed. Regression analyses revealed a significant interaction between parent status and AL level: parents of children with DD had lower AL when they had higher positive affect, whereas no such associ...
Matsuoka, Michiko; Nagamitsu, Shinichiro; Iwasaki, Mizue; Iemura, Akiko; Yamashita, Yushiro; Maeda, Masaharu; Kitani, Shingo; Kakuma, Tatsuyuki; Uchimura, Naohisa; Matsuishi, Toyojiro
The aim of the present school-based questionnaire was to analyze the sleep problems of children with developmental disorders, such as pervasive developmental disorder and attention deficit hyperactivity disorder. The sleep problems of 43 children with developmental disorders were compared with those of 372 healthy children (control group). All children attended one public elementary school in Kurume, Japan; thus, the study avoided the potential bias associated with hospital-based surveys (i.e. a high prevalence of sleep disturbance) and provided a more complete picture of the children's academic performance and family situation compared with a control group under identical conditions. Children's sleep problems were measured with the Japanese version of the Children's Sleep Habits Questionnaire (CSHQ). Children with developmental disorders had significantly higher total CSHQ scores, as well as mean scores on the parasomnias and sleep breathing subscales, than children in the control group. The total CSHQ score, bedtime resistance, sleep onset delay, and daytime sleepiness worsened with increasing age in children with developmental disorders; in contrast, these parameters were unchanged or became better with age in the control group. In children with developmental disorders, there was a significant association between a higher total CSHQ score and lower academic performance, but no such association was found in the control group. For both groups, children's sleep problems affected their parents' quality of sleep. There were no significant differences in physical, lifestyle, and sleep environmental factors, or in sleep/wake patterns, between the two groups. Children with developmental disorders have poor sleep quality, which may affect academic performance. It is important for physicians to be aware of age-related differences in sleep problems in children with developmental disorders. Further studies are needed to identify the association between sleep quality and
Full Text Available Abstract Background Diagnostic analysis of patients with developmental disorders has improved over recent years largely due to the use of microarray technology. Array methods that facilitate copy number analysis have enabled the diagnosis of up to 20% more patients with previously normal karyotyping results. A substantial number of patients remain undiagnosed, however. Methods and Results Using the Genome-Wide Human SNP array 6.0, we analyzed 35 patients with a developmental disorder of unknown cause and normal array comparative genomic hybridization (array CGH results, in order to characterize previously undefined genomic aberrations. We detected no seemingly pathogenic copy number aberrations. Most of the vast amount of data produced by the array was polymorphic and non-informative. Filtering of this data, based on copy number variant (CNV population frequencies as well as phenotypically relevant genes, enabled pinpointing regions of allelic homozygosity that included candidate genes correlating to the phenotypic features in four patients, but results could not be confirmed. Conclusions In this study, the use of an ultra high-resolution SNP array did not contribute to further diagnose patients with developmental disorders of unknown cause. The statistical power of these results is limited by the small size of the patient cohort, and interpretation of these negative results can only be applied to the patients studied here. We present the results of our study and the recurrence of clustered allelic homozygosity present in this material, as detected by the SNP 6.0 array.
Fehr, Stephanie; Leonard, Helen; Ho, Gladys; Williams, Simon; de Klerk, Nick; Forbes, David; Christodoulou, John; Downs, Jenny
Individuals with the CDKL5 disorder have been described as having severely impaired development. A few individuals have been reported having attained more milestones including walking and running. Our aim was to investigate variation in attainment of developmental milestones and associations with underlying genotype. Data was sourced from the International CDKL5 Disorder Database, and individuals were included if they had a pathogenic or probably pathogenic CDKL5 mutation and information on early development. Kaplan-Meier time-to-event analyses investigated the occurrence of developmental milestones. Mutations were grouped by their structural/functional consequence, and Cox regression was used to investigate the relationship between genotype and milestone attainment. The study included 109 females and 18 males. By 5 years of age, only 75% of the females had attained independent sitting and 25% independent walking whilst a quarter of the males could sit independently by 1 year 3 months. Only one boy could walk independently. No clear relationship between mutation group and milestone attainment was present, although females with a late truncating mutation attained the most milestones. Attainment of developmental milestones is severely impaired in the CDKL5 disorder, with the majority who did attain skills attaining them at a late age. It appears as though males are more severely impaired than the females. Larger studies are needed to further investigate the role of genotype on clinical variability.
Davis, Allyson L.; Neece, Cameron L.
Introduction: Studies have shown that parents of children with pervasive developmental disorders (PDD) exhibit higher levels of stress than parents of typically developing children or children with other types of developmental delays (DD). This relationship appears to be mediated by elevated levels of behavior problems observed in children with…
Francx, W.C.L.; Zwiers, M.P.; Mennes, M.J.J.; Oosterlaan, J.; Heslenfeld, D.J.; Hoekstra, P.J.; Hartman, C.A.; Franke, B.; Faraone, S.V; O'Dwyer, L.G.; Buitelaar, J.K.
Background A developmental improvement of symptoms in Attention-Deficit/Hyperactivity Disorder (ADHD) is frequently reported, but the underlying neurobiological substrate has not been identified. The aim of this study was to determine whether white matter microstructure is related to developmental
Francx, Winke; Zwiers, Marcel P.; Mennes, Maarten; Oosterlaan, Jaap; Heslenfeld, Dirk; Hoekstra, Pieter J.; Hartman, Catharina A.; Franke, Barbara; Faraone, Stephen V.; O'Dwyer, Laurence; Buitelaar, Jan K.
Background: A developmental improvement of symptoms in attention-deficit/hyperactivity disorder (ADHD) is frequently reported, but the underlying neurobiological substrate has not been identified. The aim of this study was to determine whether white matter microstructure is related to developmental
Oakley, Clare; Harris, Stephanie; Fahy, Thomas; Murphy, Declan; Picchioni, Marco
Both childhood adversity and conduct disorder are over-represented among adult patients with schizophrenia and have been proposed as significant factors that may increase the risk of violence. It is not known how childhood adversity and conduct disorder might interact to contribute towards an increased risk of violence in schizophrenia. This study aimed to explore the relationships between childhood adversity, conduct disorder and violence among men with schizophrenia. 54 male patients with schizophrenia from a range of inpatient and outpatient mental health services were assessed for exposure to a variety of childhood adversities, conduct disorder before the age of 15 and later violent behaviour in adulthood. Exposure to domestic violence during childhood was associated with an increased propensity to violence in adulthood. Symptoms of conduct disorder were associated both with cumulative exposure to childhood adversities and with later propensity to violence. The cumulative number of childhood adversities was associated with adult propensity to violence. This association was significantly attenuated by inclusion of conduct disorder in the model. This is the first study to demonstrate an association between childhood exposure to domestic violence and later violent behaviour in schizophrenia. Conduct disorder may mediate the association between cumulative childhood adversities and adult propensity to violence, indicating an indirect pathway. These results indicate a complex interplay between childhood adversity, conduct disorder and later violent behaviour in schizophrenia, and suggest that there may be shared aetiological risk factors on a common developmental pathway to violence. Copyright © 2016 Elsevier B.V. All rights reserved.
Molina, Brooke S.G.; Pelham, William E.
Many opportunities to explain ADHD-related risk of substance use/disorder (SUD) remain available for study. We detail these opportunities by considering characteristics of children with ADHD and factors affecting their outcomes side-by-side with overlapping variables in the developmental literature on SUD etiology. Although serious conduct problems are a known contributor to ADHD-related risk of SUD, few studies have considered their emergence developmentally and in relation to other candidate mediators and moderators that could also explain risk and be intervention targets. Common ADHD-related impairments, such as school difficulties, are in need of research. Heterogeneous social impairments have the potential for predisposing, and buffering, influences. Research on neurocognitive domains should move beyond standard executive function batteries to measure deficits in the interface between cognitive control, reward, and motivation. Ultimately, maximizing prediction will depend, as it has in the SUD literature, on simultaneous consideration of multiple risk factors. PMID:24437435
Shakkottai, Vikram G; Fogel, Brent L
The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.
Waugh, Jeffrey L; Sharma, Nutan
Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented. Copyright © 2013 Elsevier Inc. All rights reserved.
Laasonen, Marja; Smolander, Sini; Lahti-Nuuttila, Pekka; Leminen, Miika; Lajunen, Hanna-Reetta; Heinonen, Kati; Pesonen, Anu-Katriina; Bailey, Todd M; Pothos, Emmanuel M; Kujala, Teija; Leppänen, Paavo H T; Bartlett, Christopher W; Geneid, Ahmed; Lauronen, Leena; Service, Elisabet; Kunnari, Sari; Arkkila, Eva
Developmental language disorder (DLD, also called specific language impairment, SLI) is a common developmental disorder comprising the largest disability group in pre-school-aged children. Approximately 7% of the population is expected to have developmental language difficulties. However, the specific etiological factors leading to DLD are not yet known and even the typical linguistic features appear to vary by language. We present here a project that investigates DLD at multiple levels of analysis and aims to make the reliable prediction and early identification of the difficulties possible. Following the multiple deficit model of developmental disorders, we investigate the DLD phenomenon at the etiological, neural, cognitive, behavioral, and psychosocial levels, in a longitudinal study of preschool children. In January 2013, we launched the Helsinki Longitudinal SLI study (HelSLI) at the Helsinki University Hospital ( http://tiny.cc/HelSLI ). We will study 227 children aged 3-6 years with suspected DLD and their 160 typically developing peers. Five subprojects will determine how the child's psychological characteristics and environment correlate with DLD and how the child's well-being relates to DLD, the characteristics of DLD in monolingual versus bilingual children, nonlinguistic cognitive correlates of DLD, electrophysiological underpinnings of DLD, and the role of genetic risk factors. Methods include saliva samples, EEG, computerized cognitive tasks, neuropsychological and speech and language assessments, video-observations, and questionnaires. The project aims to increase our understanding of the multiple interactive risk and protective factors that affect the developing heterogeneous cognitive and behavioral profile of DLD, including factors affecting literacy development. This accumulated knowledge will form a heuristic basis for the development of new interventions targeting linguistic and non-linguistic aspects of DLD.
Gengoux, Grace W; Schapp, Salena; Burton, Sarah; Ardel, Christina M; Libove, Robin A; Baldi, Gina; Berquist, Kari L; Phillips, Jennifer M; Hardan, Antonio Y
Developmental approaches to autism treatment aim to establish strong interpersonal relationships through joint play. These approaches have emerging empirical support; however, there is a need for further research documenting the procedures and demonstrating their effectiveness. This pilot study evaluated changes in parent behavior and child autism symptoms following a 12-week Developmental Reciprocity Treatment parent-training program. A total of 22 children with autism spectrum disorder between 2 and 6 years (mean age = 44.6 months, standard deviation = 12.7) and a primary caregiver participated in 12 weekly sessions of Developmental Reciprocity Treatment parent training, covering topics including introduction to developmental approaches, supporting attention and motivation, sensory regulation and sensory-social routines, imitation/building nonverbal communication, functional language development, and turn taking. Results indicated improvement in aspects of parent empowerment and social quality of life. Improvement in core autism symptoms was observed on the Social Responsiveness Scale total score (F(1,19): 5.550, p = 0.029), MacArthur-Bates Communicative Development Inventories number of words produced out of 680 (F(1,18): 18.104, p = 0.000), and two subscales of the Repetitive Behavior Scale, Revised (compulsive, p = 0.046 and restricted, p = 0.025). No differences in sensory sensitivity were observed on the Short Sensory Profile. Findings from this pilot study indicate that Developmental Reciprocity Treatment shows promise and suggest the need for future controlled trials of this developmentally based intervention.
Thornton, Siobhan; Bray, Signe; Langevin, Lisa Marie; Dewey, Deborah
Motor impairment is associated with developmental coordination disorder (DCD), and to a lesser extent with attention-deficit/hyperactivity disorder (ADHD). Previous functional imaging studies investigated children with DCD or ADHD only; however, these two disorders co-occur in up to 50% of cases, suggesting that similar neural correlates are associated with these disorders. This study compared functional brain activation in children and adolescents (age range 8-17, M = 11.73, SD = 2.88) with DCD (n = 9), ADHD (n = 20), co-occurring DCD and ADHD (n = 18) and typically developing (TD) controls (n = 20). When compared to TD controls, children with co-occurring DCD/ADHD showed decreased activation during response inhibition in primary motor and sensory cortices. These findings suggest that children with co-occurring DCD and ADHD display significant functional changes in brain activation that could interfere with inhibition of erroneous motor responses. In contrast to previous studies, significant alterations in brain activation relative to TD controls, were not found in children with isolated DCD or ADHD. These findings highlight the importance of considering co-occurring disorders when investigating brain function in children with neurodevelopmental disorders. Copyright © 2018 Elsevier B.V. All rights reserved.
Monteiro, Ana; Massano, João; Leão, Miguel; Garrett, Carolina
The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.
Mazzocco, Michele M. M.; And Others
This paper reviews ongoing research designed to specify the cognitive, behavioral, and neuroanatomical phenotypes of specific genetic etiologies of learning disability. The genetic disorders at the focus of the research include reading disability, neurofibromatosis type 1, Tourette syndrome, and fragile X syndrome. Implications for identifying…
Osório, M Joana; Goldman, Steven A
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination associated with early neurologic dysfunction, progressive deterioration, and ultimately death. PMD has been classified into three major subtypes, according to the age of presentation: connatal PMD, classic PMD, and transitional PMD, combining features of both connatal and classic forms. Two other less severe phenotypes were subsequently described, including the spastic paraplegia syndrome and PLP1-null disease. These disorders may be associated with duplications, as well as with point, missense, and null mutations within the PLP1 gene. A number of clinically similar Pelizaeus-Merzbacher-like disorders (PMLD) are considered in the differential diagnosis of PMD, the most prominent of which is PMLD-1, caused by misexpression of the GJC2 gene encoding connexin-47. No effective therapy for PMD exists. Yet, as a relatively pure central nervous system hypomyelinating disorder, with limited involvement of the peripheral nervous system and little attendant neuronal pathology, PMD is an attractive therapeutic target for neural stem cell and glial progenitor cell transplantation, efforts at which are now underway in a number of centers internationally. Copyright © 2018 Elsevier B.V. All rights reserved.
Full Text Available Shizhen Zhang,* Peng Li,* Zhujun Zhang, Wei WangDepartment of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan Province, People's Republic of China *These authors contributed equally to this workAbstract: Stuttering is characterized by disrupted fluency of verbal expression, and occurs mostly in children. Persistent developmental stuttering (PDS may occur in adults. Reports of the surgical management of PDS are limited. Here we present the case of a 28-year-old man who had had PDS since the age of 7 years, was diagnosed with depression and anxiety disorder at the age of 24 years, and had physical concomitants. He underwent a bilateral anterior capsulotomy 4 years after the diagnosis. Over one year of follow-up, his physical concomitants resolved, and significant improvements in his psychiatric disorders and PDS were observed. To the best of our knowledge, this is the first report of simultaneous improvement in a patient's PDS and psychiatric disorder after a bilateral anterior capsulotomy.Keywords: persistent developmental stuttering, psychiatric disorders, anterior capsulotomy
Ygual-Fernandez, A; Cervera-Merida, J F
In the treatment of speech disorders by means of speech therapy two antagonistic methodological approaches are applied: non-verbal ones, based on oral motor exercises (OME), and verbal ones, which are based on speech processing tasks with syllables, phonemes and words. In Spain, OME programmes are called 'programas de praxias', and are widely used and valued by speech therapists. To review the studies conducted on the effectiveness of OME-based treatments applied to children with speech disorders and the theoretical arguments that could justify, or not, their usefulness. Over the last few decades evidence has been gathered about the lack of efficacy of this approach to treat developmental speech disorders and pronunciation problems in populations without any neurological alteration of motor functioning. The American Speech-Language-Hearing Association has advised against its use taking into account the principles of evidence-based practice. The knowledge gathered to date on motor control shows that the pattern of mobility and its corresponding organisation in the brain are different in speech and other non-verbal functions linked to nutrition and breathing. Neither the studies on their effectiveness nor the arguments based on motor control studies recommend the use of OME-based programmes for the treatment of pronunciation problems in children with developmental language disorders.
Oetting, Janna B
Although the 5 studies presented within this clinical forum include children who differ widely in locality, language learning profile, and age, all were motivated by a desire to improve the accuracy at which developmental language disorder is identified within linguistically diverse schools. The purpose of this prologue is to introduce the readers to a conceptual framework that unites the studies while also highlighting the approaches and methods each research team is pursuing to improve assessment outcomes within their respective linguistically diverse community. A disorder within diversity framework is presented to replace previous difference vs. disorder approaches. Then, the 5 studies within the forum are reviewed by clinical question, type of tool(s), and analytical approach. Across studies of different linguistically diverse groups, research teams are seeking answers to similar questions about child language screening and diagnostic practices, using similar analytical approaches to answer their questions, and finding promising results with tools focused on morphosyntax. More studies that are modeled after or designed to extend those in this forum are needed to improve the accuracy at which developmental language disorder is identified.
Gebhardt, Stefan; Grant, Phillip; von Georgi, Richard; Huber, Martin T
Psychological, neurobiological and neurodevelopmental approaches have frequently been used to provide pathogenic concepts on psychotic disorders. However, aspects of cognitive developmental psychology have hardly been considered in current models. Using a hypothesis-generating approach an integration of these concepts was conducted. According to Piaget (1896-1980), assimilation and accommodation as forms of maintenance and modification of cognitive schemata represent fundamental processes of the brain. In general, based on the perceived input stimuli, cognitive schemata are developed resulting in a conception of the world, the realistic validity and the actuality of which is still being controlled and modified by cognitive adjustment processes. In psychotic disorders, however, a disproportion of environmental demands and the ability to activate required neuronal adaptation processes occurs. We therefore hypothesize a failure of the adjustment of real and requested output patterns. As a consequence autonomous cognitive schemata are generated, which fail to adjust with reality resulting in psychotic symptomatology. Neurobiological, especially neuromodulatory and neuroplastic processes play a central role in these perceptive and cognitive processes. In conclusion, integration of cognitive developmental psychology into the existing pathogenic concepts of psychotic disorders leads to interesting insights into basic disease mechanisms and also guides future research in the cognitive neuroscience of such disorders.
Fukuda, Kuniaki; Endo, Shoichi; Goda, Tomoko; Ota, Akira; Akita, Yuji; Furukawa, Seikyo
We investigated the prevalence of developmental disorders in very low birth weight infants, their risk factors during the neonatal period, and the correlation between their neurological symptoms and their MRI findings. Seventy-three infants, who were followed up for more than 5 years in the developmental clinic, were enrolled. The developmental disorders included 6 patients with cerebral palsy (CP) and 6 patients with mental retardation (MR). The types of CP were as follows: spastic diplegia (3), spastic quadriplegia (2), athetotic quadriplegia (1). Intraventricular hemorrhage (IVH) and mechanical ventilation (MV) were significant risk factors for CP and MR and retinopathy was also a significant risk factor for MR. Periventricular areas of bright signal intensity on T2 (TR 2000 msec/TE 120 mse) weighted images, compatible with old, small white matter infarcts, gliosis or demyelination, were observed in only three of the seven patients. We measured the width of anterior horns, the maximum diameter of cerebrum, and the minimum thickness of white matter in occipital lobe on T1 (TR 500 msec/TE 20 msec) weighted transaxial images in eight patients (five patients with CP, three patients with MR). The maximum diameters of cerebrums and the minimum thickness of white matters were significantly smaller in patients with CP or MR than those in controls, respectively. The DQ of patients significantly correlated with the maximum diameters of cerebrums and the minimum thickness of white matters in left occipital lobe significantly correlated with DQ. (author)
Fukuda, Kuniaki; Endo, Shoichi; Goda, Tomoko; Ota, Akira; Akita, Yuji; Furukawa, Seikyo (Kagawa Children' s National Sanatorium, Zentsuji (Japan))
We investigated the prevalence of developmental disorders in very low birth weight infants, their risk factors during the neonatal period, and the correlation between their neurological symptoms and their MRI findings. Seventy-three infants, who were followed up for more than 5 years in the developmental clinic, were enrolled. The developmental disorders included 6 patients with cerebral palsy (CP) and 6 patients with mental retardation (MR). The types of CP were as follows: spastic diplegia (3), spastic quadriplegia (2), athetotic quadriplegia (1). Intraventricular hemorrhage (IVH) and mechanical ventilation (MV) were significant risk factors for CP and MR and retinopathy was also a significant risk factor for MR. Periventricular areas of bright signal intensity on T2 (TR 2000 msec/TE 120 mse) weighted images, compatible with old, small white matter infarcts, gliosis or demyelination, were observed in only three of the seven patients. We measured the width of anterior horns, the maximum diameter of cerebrum, and the minimum thickness of white matter in occipital lobe on T1 (TR 500 msec/TE 20 msec) weighted transaxial images in eight patients (five patients with CP, three patients with MR). The maximum diameters of cerebrums and the minimum thickness of white matters were significantly smaller in patients with CP or MR than those in controls, respectively. The DQ of patients significantly correlated with the maximum diameters of cerebrums and the minimum thickness of white matters in left occipital lobe significantly correlated with DQ. (author).
Abel, Emily A; Tonnsen, Bridgette L
Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.
Yeates, Keith Owen; Bigler, Erin D.; Dennis, Maureen; Gerhardt, Cynthia A.; Rubin, Kenneth H.; Stancin, Terry; Taylor, H. Gerry; Vannatta, Kathryn
The authors propose a heuristic model of the social outcomes of childhood brain disorder that draws on models and methods from both the emerging field of social cognitive neuroscience and the study of social competence in developmental psychology/psychopathology. The heuristic model characterizes the relationships between social adjustment, peer interactions and relationships, social problem solving and communication, social-affective and cognitive-executive processes, and their neural substrates. The model is illustrated by research on a specific form of childhood brain disorder, traumatic brain injury. The heuristic model may promote research regarding the neural and cognitive-affective substrates of children’s social development. It also may engender more precise methods of measuring impairments and disabilities in children with brain disorder and suggest ways to promote their social adaptation. PMID:17469991
Dereu, Mieke; Warreyn, Petra; Raymaekers, Ruth; Meirsschaut, Mieke; Pattyn, Griet; Schietecatte, Inge; Roeyers, Herbert
A new screening instrument for ASD was developed that can be filled out by child care workers: the Checklist for Early Signs of Developmental Disorders (CESDD). The predictive validity of the CESDD was evaluated in a population of 6,808 children between 3 and 39 months attending day-care centres in Flanders. The CESDD had a sensitivity of .80 and a specificity of .94. Based on the screening procedure used in this study, 41 children were diagnosed with ASD or got a working diagnosis of ASD. Thus, including child care workers' report on signs of ASD in screening procedures can help to identify cases of ASD at a young age.
are significantly associated with age in cohorts of typical and at-risk infantsdiffer significantly at 5–6 months of age, depending on the context: relating either with an object or a person.Environmental and developmental factors shape the developmental trajectories of hand movements in different cohorts: environment for infants with VIMs; stage of development for premature infants and those with West syndrome; and both factors for infants with orality disorders.The curvature of hand movements specifically reflects atypical development in infants with West syndrome when developmental age is considered.We aimed to discriminate between typical and atypical developmental trajectory patterns of at-risk infants in an interactive setting in this observational and longitudinal study, with the assumption that hand movements (HM reflect preverbal communication and its disorders. We examined the developmental trajectories of HM in five cohorts of at-risk infants and one control cohort, followed from ages 2 to 10 months: 25 West syndrome (WS, 13 preterm birth (PB, 16 orality disorder (OD, 14 with visually impaired mothers (VIM, 7 early hospitalization (EH, and 19 typically developing infants (TD. Video-recorded data were collected in three different structured interactive contexts. Descriptors of the hand motion were used to examine the extent to which HM were associated with age and cohort. We obtained four principal results: (i the kinematics of HM (spatial use, curvature, acceleration, and velocity were significantly associated with age in all cohorts; (ii HM significantly differed at 5–6 months of age in TD infants, depending on the context; (iii environmental and developmental factors shaped the developmental trajectories of HM in different cohorts: environment for VIM, development for PB and WS, and both factors for OD and; (iv the curvatures of HM showed atypical development in WS infants when developmental age was considered. These findings support the importance
Pfeiffer, Barret D.; Jenett, Arnim; Hammonds, Ann S.; Ngo, Teri-T B.; Misra, Sima; Murphy, Christine; Scully, Audra; Carlson, Joseph W.; Wan, Kenneth H.; Laverty, Todd R.; Mungall, Chris; Svirskas, Rob; Kadonaga, James T.; Doe, Chris Q.; Eisen, Michael B.; Celniker, Susan E.; Rubin, Gerald M.
We demonstrate the feasibility of generating thousands of transgenic Drosophila melanogaster lines in which the expression of an exogenous gene is reproducibly directed to distinct small subsets of cells in the adult brain. We expect the expression patterns produced by the collection of 5,000 lines that we are currently generating to encompass all neurons in the brain in a variety of intersecting patterns. Overlapping 3-kb DNA fragments from the flanking noncoding and intronic regions of genes thought to have patterned expression in the adult brain were inserted into a defined genomic location by site-specific recombination. These fragments were then assayed for their ability to function as transcriptional enhancers in conjunction with a synthetic core promoter designed to work with a wide variety of enhancer types. An analysis of 44 fragments from four genes found that >80% drive expression patterns in the brain; the observed patterns were, on average, comprised of <100 cells. Our results suggest that the D. melanogaster genome contains >50,000 enhancers and that multiple enhancers drive distinct subsets of expression of a gene in each tissue and developmental stage. We expect that these lines will be valuable tools for neuroanatomy as well as for the elucidation of neuronal circuits and information flow in the fly brain.
Goldman, Sylvie; DeNigris, Danielle
Conversations about the past support the development of autobiographical memory. Parents’ strategies to elicit child's participation and recall during past event conversations were compared across three school-age diagnostic groups: autism spectrum disorder (ASD, n = 11), developmental language disorders (n = 11) and typically developing (TD, n = 11). We focused on the prevalence of directives versus enrichment of events. Groups did not differ in number of events, length, and total turns. However, parents of children with ASD produced more direct questions, corrections, and unrelated turns than parents of TD children. Results highlight how parents adjusted their conversational style to their child's communication difficulties to maximize interactions and how these strategies may affect the development of personal conversations. PMID:25312278
Goldman, Sylvie; DeNigris, Danielle
Conversations about the past support the development of autobiographical memory. Parents' strategies to elicit child's participation and recall during past event conversations were compared across three school-age diagnostic groups: autism spectrum disorder (ASD, n = 11), developmental language disorders (n = 11) and typically developing (TD, n = 11). We focused on the prevalence of directives versus enrichment of events. Groups did not differ in number of events, length, and total turns. However, parents of children with ASD produced more direct questions, corrections, and unrelated turns than parents of TD children. Results highlight how parents adjusted their conversational style to their child's communication difficulties to maximize interactions and how these strategies may affect the development of personal conversations.
McDougle, C J; Holmes, J P; Carlson, D C; Pelton, G H; Cohen, D J; Price, L H
Neurobiological research has implicated the dopamine and serotonin systems in the pathogenesis of autism. Open-label reports suggest that the serotonin2A-dopamine D2 antagonist risperidone may be safe and effective in reducing the interfering symptoms of patients with autism. Thirty-one adults (age [mean+/-SD], 28.1+/-7.3 years) with autistic disorder (n=17) or pervasive developmental disorder not otherwise specified (n=14) participated in a 12-week double-blind, placebo-controlled trial of risperidone. Patients treated with placebo subsequently received a 12-week open-label trial of risperidone. For persons completing the study, 8 (57%) of 14 patients treated with risperidone were categorized as responders (daily dose [mean+/-SD], 2.9+/-1.4 mg) compared with none of 16 in the placebo group (Pautism (Pautism in adults.
Eapen, Valsamma; Mabrouk, Abdul Azim; Zoubeidi, Taoufik; Yunis, Feisal
Available evidence from the literature suggests that the prevalence of autistic disorder may be on the rise world wide, but no prevalence studies have been carried out till date in the Arabian Gulf region. A representative random sample of 694 three-year-old United Arab Emirates national children was evaluated in a two-stage study in the community. In the first stage, using Autism Screening Questionnaire, 58 per 10,000 children were noted to have autistic features. In the second stage using clinical interview, the weighted prevalence was estimated to be 29 per 10,000 for a DSM-IV diagnosis of pervasive developmental disorder (PDD). However, none of these children had been diagnosed prior to the study. Presence of autistic features was associated with male gender, presence of behavioural problems and a family history of developmental delay. The rate of PDD observed in the UAE is comparable with that reported from western countries. However, the lack of recognition of these disorders suggests the need for a comprehensive screening program, as early diagnosis can open the door for early intervention which in turn may improve the prognosis.
Markowitz, Leslie A.; Reyes, Charina; Embacher, Rebecca A.; Speer, Leslie L.; Roizen, Nancy; Frazier, Thomas W.
This study investigated the psychometric properties of the Child and Family Quality of Life scale, a measure of psychosocial quality of life in those with autism and related developmental disorders. Parents of 212 children suspected of autism spectrum disorder completed the Child and Family Quality of Life prior to a diagnostic evaluation. Results…
Peyrin, C.; Lallier, M.; Demonet, J. F.; Pernet, C.; Baciu, M.; Le Bas, J. F.; Valdois, S.
A dissociation between phonological and visual attention (VA) span disorders has been reported in dyslexic children. This study investigates whether this cognitively-based dissociation has a neurobiological counterpart through the investigation of two cases of developmental dyslexia. LL showed a phonological disorder but preserved VA span whereas…
Stothers, M. E.; Cardy, J. Oram
Asperger syndrome (AS) and nonverbal learning disabilities (NLD) are developmental disorders in which linguistic ability is reported to be stronger than in disorders from which they must be distinguished for diagnosis. Children and adults with AS and NLD share pragmatic weaknesses, atypical social behaviours, and some cognitive features. To date,…
Olino, Thomas M.; Lopez-Duran, Nestor L.; Kovacs, Maria; George, Charles J.; Gentzler, Amy L.; Shaw, Daniel S.
Background: Although low positive affect (PA) and high negative affect (NA) have been posited to predispose to depressive disorders, little is known about the developmental trajectories of these affects in children at familial risk for mood disorders. Methods: We examined 202 offspring of mothers who had a history of juvenile-onset unipolar…
Hamlyn-Wright, Sarah; Draghi-Lorenz, Riccardo; Ellis, Jason
Stress, anxiety and depression are raised amongst parents of children with a developmental disorder. However, the processes by which stress leads to depression and anxiety are poorly understood. In a cross-sectional survey, levels of parental stress, depression and anxiety were compared between parents of children with an autistic disorder,…
This preliminary study compares the family functioning, caregiver burden, and coping abilities between mothers of 300 children with developmental disorders and mothers of 100 children with no such disorders in the Bedouin community in Israel. The mothers completed the McMaster Family Assessment Device Scale, the Caregiver Burden Index, and the…
VanDerNagel, Joanne E. L.; van Duijvenbode, Neomi; Ruedrich, Stephen; Ayu, Astri P.; Schellekens, Arnt F. A.
Introduction: Substance use disorders (SUD) are common among individuals with intellectual and developmental disorders (IDD). The quality of care individuals with these conditions receive can be affected by perceptions and attributions of SUD among clinicians, professional caregivers, and family members. The aim of this study was to explore such…
Kim, Young Shin; Fombonne, Eric; Koh, Yun-Joo; Kim, Soo-Jeong; Cheon, Keun-Ah; Leventhal, Bennett L
Changes in autism diagnostic criteria found in DSM-5 may affect autism spectrum disorder (ASD) prevalence, research findings, diagnostic processes, and eligibility for clinical and other services. Using our published, total-population Korean prevalence data, we compute DSM-5 ASD and social communication disorder (SCD) prevalence and compare them with DSM-IV pervasive developmental disorder (PDD) prevalence estimates. We also describe individuals previously diagnosed with DSM-IV PDD when diagnoses change with DSM-5 criteria. The target population was all children from 7 to 12 years of age in a South Korean community (N = 55,266), those in regular and special education schools, and a disability registry. We used the Autism Spectrum Screening Questionnaire for systematic, multi-informant screening. Parents of screen-positive children were offered comprehensive assessments using standardized diagnostic procedures, including the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule. Best-estimate clinical diagnoses were made using DSM-IV PDD and DSM-5 ASD and SCD criteria. DSM-5 ASD estimated prevalence was 2.20% (95% confidence interval = 1.77-3.64). Combined DSM-5 ASD and SCD prevalence was virtually the same as DSM-IV PDD prevalence (2.64%). Most children with autistic disorder (99%), Asperger disorder (92%), and PDD-NOS (63%) met DSM-5 ASD criteria, whereas 1%, 8%, and 32%, respectively, met SCD criteria. All remaining children (2%) had other psychopathology, principally attention-deficit/hyperactivity disorder and anxiety disorder. Our findings suggest that most individuals with a prior DSM-IV PDD meet DSM-5 diagnostic criteria for ASD and SCD. PDD, ASD or SCD; extant diagnostic criteria identify a large, clinically meaningful group of individuals and families who require evidence-based services. Copyright © 2014 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.
Full Text Available Autism spectrum disorders (ASD and schizophrenia spectrum disorders (SSD share clinical and genetic components that have long been recognized. The two disorders co-occur more frequently than would be predicted by their respective prevalence, suggesting that a complex, multifactor association is involved. However, DSM-5 maintains the distinction between ASD, with core social and communication impairments, and SSD, including schizophrenia (SCZ, with hallucinations, delusions, and thought disorder as essential features. ASD and SSD have common biological underpinnings that may emerge early in development and unfold over time. One of the hypotheses supporting the similarities in the social and cognitive disturbances of ASD and SSD relates to abnormalities in the ratio of excitatory to inhibitory cortical activity (E/I imbalance. E/I imbalance in neurodevelopmental disorders could be the consequence of abnormalities in genes coding for glutamatergic and GABAergic receptors or synaptic proteins followed by system derangements. SSD and ASD have been characterized as polygenic disorders in which to the onset and progression of disease is triggered by interactions among multiple genes. Mammalian target of rapamycin signaling is under intense investigation as a convergent altered pathway in the two spectrum disorders. Current understanding of shared and divergent patterns between ASD and SSD from molecular to clinical aspects is still incomplete and may be implemented by the research domain criteria approach.
Womersley, Jacqueline S; Mpeta, Bafokeng; Dimatelis, Jacqueline J; Kellaway, Lauriston A; Stein, Dan J; Russell, Vivienne A
Developmental stress has been hypothesised to interact with genetic predisposition to increase the risk of developing substance use disorders. Here we have investigated the effects of maternal separation-induced developmental stress using a behavioural proxy of methamphetamine preference in an animal model of attention-deficit/hyperactivity disorder, the spontaneously hypertensive rat, versus Wistar Kyoto and Sprague-Dawley comparator strains. Analysis of results obtained using a conditioned place preference paradigm revealed a significant strain × stress interaction with maternal separation inducing preference for the methamphetamine-associated compartment in spontaneously hypertensive rats. Maternal separation increased behavioural sensitization to the locomotor-stimulatory effects of methamphetamine in both spontaneously hypertensive and Sprague-Dawley strains but not in Wistar Kyoto rats. Our findings indicate that developmental stress in a genetic rat model of attention-deficit/hyperactivity disorder may foster a vulnerability to the development of substance use disorders.
Mouridsen, S.E.; Rich, B.; Isager, Torben
Background: The aim of the present study was to evaluate body mass index (BMI) of children with a pervasive developmental disorder (PDD) attending two university clinics during the 1960-84 period. Methods: BMI derived from medical records of 83 consecutively admitted children with atypical autism...... and 115 children with Asperger syndrome were compared with the corresponding BMI percentiles in an age- and sex-matched reference population. Results: The BMI distribution of the boys, but not the girls, in both diagnostic categories was significantly lower than those of the age-matched reference...
Baerg, Sally; Cairney, John; Hay, John; Rempel, Lynn; Mahlberg, Nadilein; Faught, Brent E.
Physical activity (PA) is compromised in children and adolescents with developmental coordination disorder (DCD). Approximately half of all children with DCD suffer from attention-deficit hyperactive disorder (ADHD); a cohort often considered more physically active than typically developing youth. Accelerometry is an effective method of assessing…
Kanai, Chieko; Tani, Masayuki; Hashimoto, Ryuichiro; Yamada, Takashi; Ota, Haruhisa; Watanabe, Hiromi; Iwanami, Akira; Kato, Nobumasa
Little is known about the cognitive profiles of high-functioning Pervasive Developmental Disorders (PDD) in adults based on the Wechsler Intelligence Scale III (WAIS-III). We examined cognitive profiles of adults with no intellectual disability (IQ greater than 70), and in adults with Asperger's disorder (AS; n = 47), high-functioning autism (HFA;…
Zhao, Xinyu; Pak, ChangHui; Smrt, Richard D; Jin, Peng
Neural developmental disorders, such as autism, Rett Syndrome, Fragile X syndrome, and Angelman syndrome manifest during early postnatal neural development. Although the genes responsible for some of these disorders have been identified, how the mutations of these genes affect neural development is currently unclear. Emerging evidence suggest that these disorders share common underlying defects in neuronal morphology, synaptic connectivity and brain plasticity. In particular, alterations in dendritic branching and spine morphology play a central role in the pathophysiology of most mental retardation disorders, suggesting that common pathways regulating neuronal function may be affected. Epigenetic modulations, mediated by DNA methylation, RNA-associated silencing, and histone modification, can serve as an intermediate process that imprints dynamic environmental experiences on the "fixed" genome, resulting in stable alterations in phenotypes. Disturbance in epigenetic regulations can lead to inappropriate expression or silencing of genes, causing an array of multi-system disorders and neoplasias. Rett syndrome, the most common form of mental retardation in young girls, is due to l mutation of MECP2, encoding a methylated DNA binding protein that translates DNA methylation into gene repression. Angelman syndrome is due to faulty genomic imprinting or maternal mutations in UBE3A. Fragile X Syndrome, in most cases, results from the hypermethylation of FMR1 promoter, hence the loss of expression of functional FMRP protein. Autism, with its complex etiology, may have strong epigenetic link. Together, these observations strongly suggest that epigenetic mechanisms may play a critical role in brain development and etiology of related disorders. This report summarizes the scientific discussions and major conclusions from a recent conference that aimed to gain insight into the common molecular pathways affected among these disorders and discover potential therapeutic targets
Muñoz Yunta, J A; Palau Baduell, M; Salvado Salvado, B; Amo, C; Fernandez Lucas, A; Maestu, F; Ortiz, T
Autistic spectrum disorders (ASD) is a term that is not included in DSM IV or in ICD 10, which are the diagnostic tools most commonly used by clinical professionals but can offer problems in research when it comes to finding homogenous groups. From a neuropaediatric point of view, there is a need for a classification of the generalised disorders affecting development and for this purpose we used Wing's triad, which defines the continuum of the autistic spectrum, and the information provided by magnetoencephalography (MEG) as grouping elements. Specific generalised developmental disorders were taken as being those syndromes that partially expressed some autistic trait, but with their own personality so that they could be considered to be a specific disorder. ASD were classified as being primary, cryptogenic or secondary. The primary disorders, in turn, express a continuum that ranges from Savant syndrome to Asperger's syndrome and the different degrees of early infantile autism. MEG is a functional neuroimaging technique that has enabled us to back up this classification.
Full Text Available Background:Developmental Coordination Disorder (DCD defines a heterogeneous class of children exhibiting marked impairment in motor coordination as a general group of deficits in fine and gross motricity (subtype mixed group common to all research studies, and with a variety of other motor disorders that have been little investigated. No consensus about symptoms and aetiology has been established. Methods: Data from 58 children aged 6 to 13 years with DCD were collected on DSM-IV criteria, similar to DSM- 5 criteria. They had no other medical condition and inclusion criteria were strict (born full-term, no medication, no occupational /physical therapy. Multivariate statistical methods were used to evidence relevant interactions between discriminant features in a general DCD subtype group and to highlight specific co-morbidities. The study examined age-calibrated standardized scores from completed assessments of psychological, neuropsychological and neuropsychomotor functions, and more specifically the presence of minor neurological dysfunctions (MND including neurological soft signs (NSS, without evidence of focal neurological brain involvement. These were not considered in most previous studies. Results: Findings show the salient DCD markers for the mixed subtype (imitation of gestures, digital perception, digital praxia, manual dexterity, upper and lower limb coordination, versus surprising co-morbidities, with 33% of MND with mild spasticity from phasic stretch reflex (PSR, not associated with the above impairments but rather with sitting tone (p= .004 and dysdiadochokinesia (p= .011. PSR was not specific to a DCD subtype but was related to increased impairment of coordination between upper and lower limbs and manual dexterity. Our results highlight the major contribution of an extensive neuro-developmental assessment (mental and physical. Discussion: The present study provides important new evidence in favour of a complete physical
Robotham, Ro J; Starrfelt, Randi
Face and word recognition have traditionally been thought to rely on highly specialised and relatively independent cognitive processes. Some of the strongest evidence for this has come from patients with seemingly category-specific visual perceptual deficits such as pure prosopagnosia, a selective face recognition deficit, and pure alexia, a selective word recognition deficit. Together, the patterns of impaired reading with preserved face recognition and impaired face recognition with preserved reading constitute a double dissociation. The existence of these selective deficits has been questioned over the past decade. It has been suggested that studies describing patients with these pure deficits have failed to measure the supposedly preserved functions using sensitive enough measures, and that if tested using sensitive measurements, all patients with deficits in one visual category would also have deficits in the other. The implications of this would be immense, with most textbooks in cognitive neuropsychology requiring drastic revisions. In order to evaluate the evidence for dissociations, we review studies that specifically investigate whether face or word recognition can be selectively affected by acquired brain injury or developmental disorders. We only include studies published since 2004, as comprehensive reviews of earlier studies are available. Most of the studies assess the supposedly preserved functions using sensitive measurements. We found convincing evidence that reading can be preserved in acquired and developmental prosopagnosia and also evidence (though weaker) that face recognition can be preserved in acquired or developmental dyslexia, suggesting that face and word recognition are at least in part supported by independent processes.
van der Kolk, Bessel A
Less than eight years after the establishment of the National Child Traumatic Stress Network in 2001 it has become evident that the current diagnostic classification system is inadequate for tens of thousands of traumatized children. While the inclusion of PTSD in the psychiatric classification system in 1980 led to extensive scientific studies of that diagnosis, over the past 25 years there has been a parallel emergence of the field of Developmental Psychopathology, which has documented the effects of interpersonal trauma and disruption of caregiving systems on the development of affect regulation, attention, cognition, perception, and interpersonal relationships. Another significant development has been the increasing documentation of the effects of adverse early life experiences on brain development. The goal of introducing the diagnosis of Developmental Trauma Disorder is to capture the reality of the clinical presentations of children and adolescents exposed to chronic interpersonal trauma. Whether or not they exhibit some symptoms of PTSD, children who have developed in the context of ongoing danger, maltreatment, and inadequate caregiving systems are ill-served by the current diagnostic system, as it frequently leads to multiple unrelated diagnoses, an emphasis on behavioral control without recognition of interpersonal trauma and lack of safety in the etiology of symptoms, and a lack of attention to ameliorating the developmental disruptions that underlie the symptoms.
Milena Pereira Ponde
Full Text Available The objective of this study was to describe how the Childhood Autism Rating Scale (CARS behaves in relation to the Autism Diagnostic Observation Schedule (ADOS and to clinical diagnosis based on the criteria defined in the Diagnostic and Statistical Manual of Mental Disorders, 4 th Edition (DSM-IV for children of immigrant parents. Forty-nine children of parents who had immigrated to Canada were evaluated. In this sample, the ADOS and the DSM-IV showed complete agreement. Using the standard cut-off point of 30, the CARS showed high specificity and poor sensitivity. The study proposes a cut-off point for the CARS that would include pervasive developmental disorder – not otherwise specified (PDD-NOS. Reducing the cut-off point to 20/21 increased the specificity of the instrument for this group of children without significantly reducing its sensitivity.
Anna I. Akhmetzyanova
Full Text Available Introduction: juniour schoolchildren with special needs should take into account the existing system of norms and rules in the school space. They should understand both their own inner world and that of surrounding people, but in conditions of deficiency dysontogenesis, the inability to forecast the outcome of any situation and the use of irrational behavioural strategies reduce the opportunities for successful social adaptation. The purpose of this study is to identify the specifics of forecasting and understanding normative situations by juniour schoolchildren with musculoskeletal system disorder, as well as with vision, hearing and speech impairment. Materials and Methods: to study the forecasting specifics of juniour schoolchildren, we used the guessing game methodology by L. I. Peresleni. We studied the specific character of normative behaviour using a set of methodologies: Perception of the normative situation by A. K. Pashchenko, Anticipation of the outcome with violation of the norm by V. P. Ulyanova, and Identification of the cultural congruity of juniour schoolchildren by L. F. Bayanova. Results: the study made it possible to identify the forecasting characteristics of juniour schoolchildren with normative development and with vision, hearing, speech impairments and musculoskeletal disorder. Students with developmental disabilities experienced forecasting difficulties, associated with decreasing sustainability of voluntary attention and its distribution in the course of the activity. The perception of norms by schoolchildren with developmental disorders often depended on random, brightly coloured emotional events or objects. The norms were differentiated more successfully in a situation of communication, than in educational activity. Discussion and Conclusions: the obtained data are consistent with the results of the studies by national and foreign scientists, who note that children with health limitations lack understanding of the
Nolte, Tobias; Guiney, Jo; Fonagy, Peter; Mayes, Linda C.; Luyten, Patrick
Anxiety disorders represent a common but often debilitating form of psychopathology in both children and adults. While there is a growing understanding of the etiology and maintenance of these disorders across various research domains, only recently have integrative accounts been proposed. While classical attachment history has been a traditional core construct in psychological models of anxiety, contemporary attachment theory has the potential to integrate neurobiological and behavioral findings within a multidisciplinary developmental framework. The current paper proposes a modern attachment theory-based developmental model grounded in relevant literature from multiple disciplines including social neuroscience, genetics, neuroendocrinology, and the study of family factors involved in the development of anxiety disorders. Recent accounts of stress regulation have highlighted the interplay between stress, anxiety, and activation of the attachment system. This interplay directly affects the development of social–cognitive and mentalizing capacities that are acquired in the interpersonal context of early attachment relationships. Early attachment experiences are conceptualized as the key organizer of a complex interplay between genetic, environmental, and epigenetic contributions to the development of anxiety disorders – a multifactorial etiology resulting from dysfunctional co-regulation of fear and stress states. These risk-conferring processes are characterized by hyperactivation strategies in the face of anxiety. The cumulative allostatic load and subsequent “wear and tear” effects associated with hyperactivation strategies converge on the neural pathways of anxiety and stress. Attachment experiences further influence the development of anxiety as potential moderators of risk factors, differentially impacting on genetic vulnerability and relevant neurobiological pathways. Implications for further research and potential treatments are outlined. PMID
Full Text Available Anxiety disorders represent a common but often debilitating form of psychopathology in both children and adults. While there is a growing understanding of the aetiology and maintainance of these disorders across various research domains, only recently have integrative accounts been proposed. While classical attachment history has been a traditional core construct in psychological models of anxiety, contemporary attachment theory has the potential to integrate neurobiological and behavioral findings within a multidisciplinary developmental framework.The current paper proposes a modern attachment theory-based developmental model grounded in relevant literature from multiple disciplines including social neuroscience, genetics, neuroendocrinology, and the study of family factors involved in the development of anxiety disorders. Recent accounts of stress regulation have highlighted the interplay between stress, anxiety and activation of the attachment system. This interplay directly affects the development of social cognitive and mentalizing capacities that are acquired in the interpersonal context of early attachment relationships. Early attachment experiences are conceptualised as the key organiser of a complex interplay between genetic, environmental and epigentic contributions to the development of anxiety disorders – a multifactorial aetiology resulting from dysfunctional co-regulation of fear and stress states. These risk-conferring processes are characterised by hyperactivation strategies in the face of anxiety.In the model, the cumulative allostatic load and subsequent wear and tear effects associated with hyperactivation strategies converge on the neural pathways of anxiety and stress. Attachment experiences further influence the development of anxiety as potential moderators of risk factors, differentially impacting on genetic vulnerability and relevant neurobiological pathways. Implications for further research and potential treatments
Mordre, Marianne; Groholt, Berit; Knudsen, Ann Kristin; Sponheim, Eili; Mykletun, Arnstein; Myhre, Anne Margrethe
We followed 74 children with autistic disorder (AD) and 39 children with pervasive developmental disorder not otherwise specified (PDD NOS) for 17-38 years in a record linkage study. Rates of disability pension award, marital status, criminality and mortality were compared between groups. Disability pension award was the only outcome measure that differed significantly between the AD and PDD NOS groups (89% vs. 72%, p spectrum disorder, in line with proposed DSM-V revision.
Luisa Matilde Salamanca Duque
Full Text Available The Developmental Coordination Disorder is characterized by difficulties that produce consequences on the psychomotor performance in daily and school activities, and requires early diagnosis. The Developmental Coordination Disorder Questionnaire CTDC is used for its diagnosis.The objective of the study was to determinate the psychometric properties of CTDC. Methodology. Descriptive study and instrument validation, with a sample of 41 children aged between 6 to 12 years old, at school, with the application of the CTDC and the Da Fonseca Psychomotor Battery. The study analyzed internal consistency reliability, and intra-rater and concurrent validity through the two instruments. Results. Positive results were obtained: the reliability for the full internal consistency using Cronbach’s alpha coefficient was 0.92, and the intra-rater reliability using Kappa index was 0.82 with ap<0.001, independent items showed values above 0.5; concurrent validity through the Spearman correlation coefficient Rho was 0.6, with ap<0.01. Conclusions. The CTDC has appropriate and strong psychometric properties for its application and clinical use.
Adrienne L Tierney
Full Text Available Current research suggests that autism spectrum disorder (ASD is characterized by asynchronous neural oscillations. However, it is unclear whether changes in neural oscillations represent an index of the disorder or are shared more broadly among both affected and unaffected family members. Additionally, it remains unclear how early these differences emerge in development and whether they remain constant or change over time. In this study we examined developmental trajectories in spectral power in infants at high- or low-risk for ASD. Spectral power was extracted from resting EEG recorded over frontal regions of the scalp when infants were 6, 9, 12, 18 and 24 months of age. We used multilevel modeling to assess change over time between risk groups in the delta, theta, low alpha, high alpha, beta, and gamma frequency bands. The results indicated that across all bands, spectral power was lower in high-risk infants as compared to low-risk infants at 6-months of age. Furthermore high-risk infants showed different trajectories of change in spectral power in the subsequent developmental window indicating that not only are the patterns of change different, but that group differences are dynamic within the first two years of life. These findings remained the same after removing data from a subset of participants who displayed ASD related behaviors at 24 or 36 months. These differences in the nature of the trajectories of EEG power represent important endophenotypes of ASD.
Full Text Available BackgroundThe “Osserviamo” project, coordinated by the Municipality of Rome and the Department of Pediatrics and Child Neuropsychiatry of Sapienza University, aimed to validate an Italian version of the Ages and Stages Questionnaire-3 and to collect, for the first time in Italy, data on developmental disorders in a sample of 4,000 children aged 3 and 4 years. The present paper presents the preliminary results of the “Osserviamo” project.Methods600 parents of children between 39 and 50 months of age (divided in two age stages: 42 and 48 months were contacted from 15 kindergarden schools.Results23.35% of the whole sample scored in the risk range of at least one developmental area of the Ages and Stages Questionnaire-3rd Edition (ASQ-3 and 7.78% scored in the clinical range. Specifically, 23.97% of the children in the 42-month age stage scored in the risk range and 5.79% scored in the clinical range. Males scored lower than females in the fine motor skills and personal–social development domains. Moreover, 22.79% of the children in the 48-month age stage scored in the risk range, while 9.55% scored in the clinical range. Males scored lower than females in fine motor skills.ConclusionItalian validation of the ASQ-3 and recruitment of all 4,000 participants will allow these data on the distribution of developmental disorders to be extended to the general Italian pediatric population. One main limitation of the study is the lack of clinical confirmation of the data yielded by the screening programme, which the authors aim to obtain in later stages of the study.
Maughan, Barbara; Rowe, Richard; Messer, Julie; Goodman, Robert; Meltzer, Howard
Background: Despite an expanding epidemiological evidence base, uncertainties remain over key aspects of the epidemiology of the "antisocial" disorders in childhood and adolescence. Methods: We used cross-sectional data on a nationally representative sample of 10,438 5-15-year-olds drawn from the 1999 British Child Mental Health Survey…
Full Text Available Abstract Background This article reviews the current debate on developmental trauma disorder (DTD with respect to formalizing its diagnostic criteria. Victims of abuse, neglect, and maltreatment in childhood often develop a wide range of age-dependent psychopathologies with various mental comorbidities. The supporters of a formal DTD diagnosis argue that post-traumatic stress disorder (PTSD does not cover all consequences of severe and complex traumatization in childhood. Discussion Traumatized individuals are difficult to treat, but clinical experience has shown that they tend to benefit from specific trauma therapy. A main argument against inclusion of formal DTD criteria into existing diagnostic systems is that emphasis on the etiology of the disorder might force current diagnostic systems to deviate from their purely descriptive nature. Furthermore, comorbidities and biological aspects of the disorder may be underdiagnosed using the DTD criteria. Summary Here, we discuss arguments for and against the proposal of DTD criteria and address implications and consequences for the clinical practice.
Blair, R J R
In this paper, I am going to examine the disorder of psychopathy and consider how genetic anomalies could give rise to the relatively specific neuro-cognitive impairments seen in individuals with this disorder. I will argue that genetic anomalies in psychopathy reduce the salience of punishment information (perhaps as a function of noradrenergic disturbance). I will argue that the ability of the amygdala to form the stimulus-punishment associations necessary for successful socialization is disrupted and that because of this, individuals with psychopathy do not learn to avoid actions that will harm others. It is noted that this model follows the neuropsychological approach to the study of developmental disorders, an approach that has been recently criticized. I will argue that these criticisms are less applicable to psychopathy. Indeed, animal work on the development of the neural systems necessary for emotion, does not support a constructivist approach with respect to affect. Importantly, such work indicates that while environmental effects can alter the responsiveness of the basic neural architecture mediating emotion, environmental effects do not construct this architecture. However, caveats to the neuropsychological approach with reference to this disorder are noted.
Full Text Available Planning ahead and organizational abilities in time and space are ingredients of high-level cognitive functions labelled as ‘Executive Functions’ (EF required for daily activities such as writing or home management. EF deficits are considered a possible underlying brain mechanism involved in Developmental Coordination Disorders (DCD. The aim of the study was to compare the handwriting process measures and the planning and organizational abilities in space and time of students with DCD with those of matched controls and to find whether handwriting measures can predict daily planning and organizational abilities among students with DCD. Method: 30 students diagnosed with DCD, between the ages of 24-41, and 30 age- and gender-matched controls participated in the study. They filled out the Handwriting Proficiency Screening Questionnaire (HPSQ and the Adult Developmental Co-ordination Disorders Checklist (ADC. Furthermore, they copied a paragraph on a digitizer that is part of a computerized system (ComPET.Results: Significant group differences were found for the HPSQ subscales scores as well as for the temporal and spatial measures of the paragraph copy task. Significant group differences were also found for the planning and organizational abilities in space and time as reflected through the ADC subscales. Significant medium correlations were found in both groups between the mean HPSQ time subscale and the ADC-B subscale mean score (r=.50 /.58 p<.05. Series of regression analyses indicated that two handwriting performance measures (mean HPSQ time subscale and mean stroke duration predicted 19% of planning and organizational abilities as reflected through daily functions (ADC-B (F (3, 54 = 38.37, β= . 40 p<.0001.Conclusion: The results support previous evidence about EF deficits as an underlying brain mechanism involved in motor coordination disorders, their significance as related to theoretical models of handwriting and daily function among
Clark, Gillian M; Lum, Jarrad A G
The serial reaction time task (SRTT) has been used to study procedural learning in clinical populations. In this report, second-order meta-analysis was used to investigate whether disorder type moderates performance on the SRTT. Using this approach to quantitatively summarise past research, it was tested whether autism spectrum disorder, developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment differentially affect procedural learning on the SRTT. The main analysis revealed disorder type moderated SRTT performance (p=0.010). This report demonstrates comparable levels of procedural learning impairment in developmental coordination disorder, dyslexia, Parkinson's disease, schizophrenia, and specific language impairment. However, in autism, procedural learning is spared. Copyright © 2017 Elsevier Inc. All rights reserved.
Fuss, Johannes; Dressing, Harald; Briken, Peer
Prominent court decisions and recent research suggest that introduction of neurogenetic evidence, for example, monoamine oxidase A alleles, may reduce the sentence of convicted psychopaths. Here, we are aiming to demonstrate that judges' response to neurogenetic evidence is highly influenced by the legal system in which they operate. Participating German judges (n=372) received a hypothetical case vignette of aggravated battery, and were randomly assigned to expert testimonies that either involved a neurogenetic explanation of the offender's psychopathy or only a psychiatric diagnosis of psychopathy. Testimonies were presented either by the prosecution or defence. Neurogenetic evidence significantly reduced judges' estimation of legal responsibility of the convict. Nevertheless, the average prison sentence was not affected in the German legal system. Most interestingly, analysis of judges' reasoning revealed that neurogenetic arguments presented by the prosecution significantly increased the number of judges (23% compared with ∼ 6%) ordering an involuntary commitment in a forensic psychiatric hospital. Such an involuntary commitment due to diminished or absent legal responsibility may last much longer than a prison sentence in the German legal system. Our data, thus, demonstrate the socially contingent nature of legal responses to neurogenetic evidence in criminal cases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Pitta Botelho, A C O; Vellasco, M M B R; Hall Barbosa, C R; Costa Silva, E
Magnetic sensors are largely used in several engineering areas. Among them, magnetic sensors based on the Giant Magnetoimpedance (GMI) effect are a new family of magnetic sensing devices that have a huge potential for applications involving measurements of ultra-weak magnetic fields. The sensitivity of magnetometers is directly associated with the sensitivity of their sensing elements. The GMI effect is characterized by a large variation of the impedance (magnitude and phase) of a ferromagnetic sample, when subjected to a magnetic field. Recent studies have shown that phase-based GMI magnetometers have the potential to increase the sensitivity by about 100 times. The sensitivity of GMI samples depends on several parameters, such as sample length, external magnetic field, DC level and frequency of the excitation current. However, this dependency is yet to be sufficiently well-modeled in quantitative terms. So, the search for the set of parameters that optimizes the samples sensitivity is usually empirical and very time consuming. This paper deals with this problem by proposing a new neuro-genetic system aimed at maximizing the impedance phase sensitivity of GMI samples. A Multi-Layer Perceptron (MLP) Neural Network is used to model the impedance phase and a Genetic Algorithm uses the information provided by the neural network to determine which set of parameters maximizes the impedance phase sensitivity. The results obtained with a data set composed of four different GMI sample lengths demonstrate that the neuro-genetic system is able to correctly and automatically determine the set of conditioning parameters responsible for maximizing their phase sensitivities. Copyright © 2015 Elsevier Ltd. All rights reserved.
Full Text Available Background: In motor imitation, taking a partner's perspective often involves a mental body transformation from an embodied, ego-centered viewpoint to a disembodied, hetero-centered viewpoint. Impairments of both own-body-transformation (OBT and abnormalities in visual-spatial processing have been reported in patients with neurodevelopmental disorders including autism spectrum disorder (ASD. In the context of a visual-motor interactive task, studying OBT impairments while disentangling the contribution of visual-spatial impairments associated with motor coordination problems has not been investigated.Methods: 85 children and adolescents (39 controls with typical development, TD; 29 patients with ASD; 17 patients with developmental coordination disorder, DCD, aged 6–19 years, participated in a behavioral paradigm in which participants interacted with a virtual tightrope walker (TW standing and moving with him. The protocol enables to distinguish ego-centered and hetero-centered perspectives.Results: We show that (1 OBT was possible but difficult for children with neurodevelopmental disorders, as well as for TD children, when the task required the participant to perform a mental rotation in order to adopt a hetero-centered perspective. (2 Using multivariate models, hetero-centered perspective score was significantly associated with age, TW orientation, latency, and diagnosis. ASD and TD groups' performances were close and significantly correlated with age. However, it was not the case for DCD, since this group was specifically handicapped by visual-spatial impairments. (3 ASD and DCD did not perform similarly: motor performance as shown by movement amplitude was better in DCD than ASD. ASD motor response was more ambiguous and hardly readable.Conclusion: Changing perspective in a spatial environment is possible for patients with ASD although delayed compared with TD children. In patients with DCD, their visual-spatial impairments negatively
Full Text Available Objectives: The aim of this research is to compare cognitive flexibility and adjustment between two groups of students with Developmental Coordination Disorder (DCD and typically developing students. Methods: For this purpose, 50 students with DCD and 50 typically developing students were chosen among 12 primary schools. The Developmental Coordination Disorder Questionnaire (DCD-Q, Adjustment Inventory for School Students (AISS and Wisconsin Card Sorting Test (WCST were used to measure the research variables. Results: The results of the multivariate analysis of variance (MANOVA showed that the mean score of cognitive flexibility and emotional, educational and social adjustment is significantly higher in the students with developmental coordination disorder (P<0.001. The results of multivariate regression analysis also showed that a 25% variance percentage of cognitive flexibility and adjustment can explain the variance of developmental coordination disorder in people with such a disorder (P<0.001. Discussion: The result of the present study provides further evidence based on low cognitive flexibility and Adjustment in students with DCD.
Gaigg, Sebastian B.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is clinically defined by abnormalities in reciprocal social and communicative behaviors and an inflexible adherence to routinised patterns of thought and behavior. Laboratory studies repeatedly demonstrate that autistic individuals experience difficulties in recognizing and understanding the emotional expressions of others and naturalistic observations show that they use such expressions infrequently and inappropriately to regulate social exchanges. Dominant theories attribute this facet of the ASD phenotype to abnormalities in a social brain network that mediates social-motivational and social-cognitive processes such as face processing, mental state understanding, and empathy. Such theories imply that only emotion related processes relevant to social cognition are compromised in ASD but accumulating evidence suggests that the disorder may be characterized by more widespread anomalies in the domain of emotions. In this review I summarize the relevant literature and argue that the social-emotional characteristics of ASD may be better understood in terms of a disruption in the domain-general interplay between emotion and cognition. More specifically I will suggest that ASD is the developmental consequence of early emerging anomalies in how emotional responses to the environment modulate a wide range of cognitive processes including those that are relevant to navigating the social world. PMID:23316143
Sebastian B Gaigg
Full Text Available Autism Spectrum Disorder (ASD is a neurodevelopmental disorder that is clinically defined by abnormalities in reciprocal social and communicative behaviours and an inflexible adherence to routinised patterns of thought and behaviour. Laboratory studies repeatedly demonstrate that autistic individuals experience difficulties in recognising and understanding the emotional expressions of others and naturalistic observations show that they use such expressions infrequently and inappropriately to regulate social exchanges. Dominant theories attribute this facet of the ASD phenotype to abnormalities in a social brain network that mediates social-motivational and social-cognitive processes such as face processing, mental state understanding and empathy. Such theories imply that only emotion related processes relevant to social cognition are compromised in ASD but accumulating evidence suggests that the disorder may be characterised by more widespread anomalies in the domain of emotions. In this review I summarise the relevant literature and argue that the social-emotional characteristics of ASD may be better understood in terms of a disruption in the domain-general interplay between emotion and cognition. More specifically I will suggest that ASD is the developmental consequence of early-emerging anomalies in how emotional responses to the environment modulate a wide range of cognitive processes including those that are relevant to navigating the social world.
Gaigg, Sebastian B
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is clinically defined by abnormalities in reciprocal social and communicative behaviors and an inflexible adherence to routinised patterns of thought and behavior. Laboratory studies repeatedly demonstrate that autistic individuals experience difficulties in recognizing and understanding the emotional expressions of others and naturalistic observations show that they use such expressions infrequently and inappropriately to regulate social exchanges. Dominant theories attribute this facet of the ASD phenotype to abnormalities in a social brain network that mediates social-motivational and social-cognitive processes such as face processing, mental state understanding, and empathy. Such theories imply that only emotion related processes relevant to social cognition are compromised in ASD but accumulating evidence suggests that the disorder may be characterized by more widespread anomalies in the domain of emotions. In this review I summarize the relevant literature and argue that the social-emotional characteristics of ASD may be better understood in terms of a disruption in the domain-general interplay between emotion and cognition. More specifically I will suggest that ASD is the developmental consequence of early emerging anomalies in how emotional responses to the environment modulate a wide range of cognitive processes including those that are relevant to navigating the social world.
Lampis, Valentina; Maziade, Michel; Battaglia, Marco
We are witnessing a tremendous expansion of strategies and techniques that derive from basic and preclinical science to study the fine genetic, epigenetic, and proteomic regulation of behavior in the laboratory animal. In this endeavor, animal models of psychiatric illness are becoming the almost exclusive domain of basic researchers, with lesser involvement of clinician researchers in their conceptual design, and transfer into practice of new paradigms. From the side of human behavioral research, the growing interest in gene-environment interplay and the fostering of valid endophenotypes are among the few substantial innovations in the effort of linking common mental disorders to cutting-edge clinical research questions. We argue that it is time for cross-fertilization between these camps. In this article, we a) observe that the "translational divide" can-and should-be crossed by having investigators from both the basic and the clinical sides cowork on simpler, valid "endophenotypes" of neurodevelopmental relevance; b) emphasize the importance of unambiguous physiological readouts, more than behavioral equivalents of human symptoms/syndromes, for animal research; c) indicate and discuss how this could be fostered and implemented in a developmental framework of reference for some common anxiety disorders and ultimately lead to better animal models of human mental disorders.
Poinso, F; Dubois, B; Chatel, C; Viellard, M; Bastard-Rosset, D; Girardot, A-M; Grandgeorge, P; De Martino, S; Sokolowsky, M; Salle-Collemiche, X; Da Fonseca, D
The treatment of children with pervasive developmental disorders (PDD) has not been systematically assessed in French day-care units. In this prospective study, 11 children with a diagnosis of PDD were followed up for 2years in a day-care unit in the Marseille university hospital. The treatment they received is based on an initial assessment by the "Centre Ressources Autisme" (CRA PACA) and further included a continued observation of the child and an assessment of the child's abilities and needs. This treatment used various therapeutic approaches 10h weekly and also included parental counseling and coordinated work with schools. Treatment in our day-care unit can be categorized as eclectic, non-intensive therapy. It is based on methods such as TEACCH (Treatment and Education of Autistic and related Communication handicapped Children), Floor Time Play, speech and language therapy, developmental therapy, and psychotherapy. International studies on intensive behavioral therapies suggest that this treatment is superior to non-behavioral and/or non-intensive treatment. They suggest its efficiency is due both to the nature of the treatment (behavioral) and to its intensity (more than 25h a week). In this study, the CRA diagnosed children using the ADI and ADOS. The 11 children (mean age, 3years 5months) were tested twice, with the Vineland and CARS scales. The first assessment was on admission to the day hospital and the second was 2years later. The results showed developmental progress with a mean increase of 13.5 months at the Vineland Scale, and a decrease of the autism severity score on the CARS. The treatment presented here proves to be efficient; if compared to similar results in international studies, we obtained better results than their eclectic intensive or non-intensive treatment comparison group. Copyright © 2012 Elsevier Masson SAS. All rights reserved.
Full Text Available Children with developmental disorders affecting learning and behaviour (DDALB (e.g., attention, social communication, language, and learning disabilities, etc. require individualized support across multiple environments to promote participation, quality of life, and developmental outcomes. Support to enhance participation is based largely on individual profiles of functioning (e.g., communication, cognitive, social skills, executive functioning, etc., which are highly heterogeneous within medical diagnoses. Currently educators, clinicians, and parents encounter widespread difficulties in meeting children’s needs as there is lack of universal classification of functioning and disability for use in school environments. Objective: a practical tool for functional classification broadly applicable for children with DDALB could facilitate the collaboration, identification of points of entry of support, individual program planning, and reassessment in a transparent, equitable process based on functional need and context. We propose such a tool, the Functional Abilities Classification Tool (FACT based on the concepts of the ICF (International Classification of Functioning, Disability and Health. FACT is intended to provide ability and participation classification that is complementary to medical diagnosis. For children presenting with difficulties, the proposed tool initially classifies participation over several environments. Then, functional abilities are classified and personal factors and environment are described. Points of entry for support are identified given an analysis of functional ability profile, personal factors, environmental features, and pattern of participation. Conclusion: case examples, use of the tool and implications for children, agencies, and the system are described.
Huỳnh, Christophe; Caron, Jean; Pelletier, Marilou; Liu, Aihua; Fleury, Marie-Josée
This study examined factors associated with mental health services (MHS) use by individuals with mental disorders within a developmental perspective of adulthood. Bivariate and multivariate analyses were conducted separately for each developmental stage on independent variables using the Andersen's behavioral health service model. For 18-29-year-old emerging adults (n = 141), autonomy, daily life/relations, Internet searching, alcohol dependence, cognitive impulsiveness, number of stressful events, and self-harm were associated with MHS use. For 30-49-year olds (n = 292), being female, country of origin, being on welfare, social integration, Internet searching, and number of stressful events were associated with MHS use. For 50-64-year-old middle-aged adults (n = 126), current occupation was associated with MHS use. Developing online resources for emerging adults may increase MHS use. For 30-49-year olds, outreach should target male, immigrants, and individuals less socially integrated and on welfare. For middle-aged adults, workplace programs that reduce stigma and offer psychological help could increase MHS use.
Kenneth N. Levy
Full Text Available In this paper we propose that John Bowlby's attachment theory provides a theoretically coherent, empirically based, and clinically useful model for understanding personality pathology. This theoretical framework brings parsimony and breadth to the conceptualization of the etiology, maintenance, and treatment of personality disorders (PDs. Attachment theory can explain both the intrapersonal and interpersonal difficulties common in those with PDs and is consistent with findings from studies across multiple domains of knowledge, including evolutionary biology, ethology/comparative psychology, developmental psychology, experimental social-personality psychology, and neuroscience.PDs are characterized by significant interpersonal challenges. Recently, these challenges have been hypothesized to stem from underlying maladaptive attachment schemas. Our goal is to outline and elaborate on attachment theory as a foundation for the etiology and pathology of PDs and to highlight the implications of this theory for treatment. We begin with a brief review of attachment, describing its conceptualization and assessment in both children and adults in order to examine PD development. This theoretical foundation is supported by a body of empirical research, from which we present findings from neurobiological and developmental literatures linking attachment and PDs. We then examine the role of attachment in the psychotherapy process and in treatment outcome. Further, we outline research reporting changes in attachment patterns as a result of treatment. Finally, we summarize the implications of attachment theory for understanding PDs and present possible directions for future research.
Full Text Available Accurate movement of the body and the perception of the body's position in space usually rely on both visual and proprioceptive cues. These cues are weighted differently depending on task, visual conditions and neurological factors. Children with Developmental Coordination Disorder (DCD and often also children with Autism Spectrum Disorder (ASD have movement deficits, and there is evidence that cue weightings may differ between these groups. It is often reported that ASD is linked to an increased reliance on proprioceptive information at the expense of visual information (Haswell et al, 2009; Gepner et al, 1995. The inverse appears to be true for DCD (Wann et al, 1998; Biancotto et al, 2011. I will report experiments comparing, for the first time, relative weightings of visual and proprioceptive information in children aged 8-14 with ASD, DCD and typical development. Children completed the Movement Assessment Battery for Children (MABC-II to assess motor ability and a visual-proprioceptive matching task to assess relative cue weighting. Results from the movement battery provided evidence for movement deficits in ASD similar to those in DCD. Cue weightings in the matching task did not differentiate the clinical groups, however those children with ASD with relatively spared movement skills tended to weight visual cues less heavily than those with DCD-like movement deficits. These findings will be discussed with reference to previous DSM-IV diagnostic criteria and also relevant revisions in the DSM-V.
Hyman M. Schipper
Full Text Available Heme oxygenase-1 (HO-1 is a 32 kDa protein which catalyzes the breakdown of heme to free iron, carbon monoxide and biliverdin. The Hmox1 promoter contains numerous consensus sequences that render the gene exquisitely sensitive to induction by diverse pro-oxidant and inflammatory stimuli. In “stressed” astroglia, HO-1 hyperactivity promotes mitochondrial iron sequestration and macroautophagy and may thereby contribute to the pathological iron deposition and bioenergetic failure documented in Alzheimer disease, Parkinson disease and certain neurodevelopmental conditions. Glial HO-1 expression may also impact neuroplasticity and cell survival by modulating brain sterol metabolism and the proteasomal degradation of neurotoxic proteins. The glial HO-1 response may represent a pivotal transducer of noxious environmental and endogenous stressors into patterns of neural damage and repair characteristic of many human degenerative and developmental CNS disorders.
Full Text Available The paper discusses emotional intelligence as a factor of effective teaching. Emotional intelligence, in broad interpretation, is defined as the ability to differentiate between positive and negative emotions, and the ability to change one’s emotional condition from a poor to a better one. Internal and external components are inherent in the emotional component, and they can provide stress protecting and adaptive functions of this integral concept. Also it highlights psychological characteristics of teachers working with children with developmental disorders. Psychological requirements for specialists who work with individuals with special educational needs include psychological willingness of a personality for this work. This willingness can be considered as an integrated quality of a personality including a system of motivation, knowledge, skills, certain experience, personal qualities that ensure successful activity. Keywords: ; ; ; ;
Kornilov, Sergey A; Lebedeva, Tatiana V; Zhukova, Marina A; Prikhoda, Natalia A; Korotaeva, Irina V; Koposov, Roman A; Hart, Lesley; Reich, Jodi; Grigorenko, Elena L
Using a newly developed Assessment of the Development of Russian Language (ORRIA), we investigated differences in language development between rural vs. urban Russian-speaking children (n = 100 with a mean age of 6.75) subdivided into groups with and without developmental language disorders. Using classical test theory and item response theory approaches, we found that while ORRIA displayed overall satisfactory psychometric properties, several of its items showed differential item functioning favoring rural children, and several others favoring urban children. After the removal of these items, rural children significantly underperformed on ORRIA compared to urban children. The urbanization factor did not significantly interact with language group. We discuss the latter finding in the context of the multiple additive risk factors for language development and emphasize the need for future studies of the mechanisms that underlie these influences and the implications of these findings for our understanding of the etiological architecture of children's language development.
Pino, Maria Chiara; Mazza, Monica; Mariano, Melania; Peretti, Sara; Dimitriou, Dagmara; Masedu, Francesco; Valenti, Marco; Franco, Fabia
Theory of mind (ToM) is impaired in individuals with autism spectrum disorders (ASD). The aims of this study were to: (i) examine the developmental trajectories of ToM abilities in two different mentalizing tasks in children with ASD compared to TD children; and (ii) to assess if a ToM simple test known as eyes-test could predict performance on the more advanced ToM task, i.e. comic strip test. Based on a sample of 37 children with ASD and 55 TD children, our results revealed slower development at varying rates in all ToM measures in children with ASD, with delayed onset compared to TD children. These results could stimulate new treatments for social abilities, which would lessen the social deficit in ASD.
Kornilov, Sergey A.; Lebedeva, Tatiana V.; Zhukova, Marina A.; Prikhoda, Natalia A.; Korotaeva, Irina V.; Koposov, Roman A.; Hart, Lesley; Reich, Jodi; Grigorenko, Elena L.
Using a newly developed Assessment of the Development of Russian Language (ORRIA), we investigated differences in language development between rural vs. urban Russian-speaking children (n = 100 with a mean age of 6.75) subdivided into groups with and without developmental language disorders. Using classical test theory and item response theory approaches, we found that while ORRIA displayed overall satisfactory psychometric properties, several of its items showed differential item functioning favoring rural children, and several others favoring urban children. After the removal of these items, rural children significantly underperformed on ORRIA compared to urban children. The urbanization factor did not significantly interact with language group. We discuss the latter finding in the context of the multiple additive risk factors for language development and emphasize the need for future studies of the mechanisms that underlie these influences and the implications of these findings for our understanding of the etiological architecture of children's language development. PMID:27346924
The schism between psychiatry, psychology and analysis, while long present, has widened even more in the past half-century with the advances in psychopharmacology. With the advances in electronic brain imaging, particularly in developmental and post-traumatic stress disorders, there has emerged both an understanding of brain changes resulting from severe, chronic stress and an ability to target brain chemistry in ways that can relieve clinical symptomatology. The use of alpha-1 adrenergic brain receptor antagonists decreases many of the manifestations of PTSD. Additionally, this paper discusses the ways in which dreaming, thinking and the analytic process are facilitated with this concomitant treatment and hypervigilence and hyper-arousal states are signficiantly decreased. © 2017, The Society of Analytical Psychology.
Ewing, Graham Wilfred; Parvez, Syed Hasan
This case is presented to explain that developmental dyslexia and related autistic spectrum disorders have solely pathological origins. There is a general consensus of opinion which supports the phonological theory. However, this largely ignores the biological basis for all aspects of the brain's development and function, and hence, for its dysfunction. A unified explanation must take into account all salient features including cognitive dysfunction, encephalograph (EEG) frequencies, neural networks, physiological systems, autonomic nervous system and the function of the cerebellum. It must explain the significance of the brain waves and neurons and their normally synchronized or coherent function. This article builds upon an earlier article by the authors, which incorporates a review and discussion of the prevailing theories or models for developmental dyslexia. It looks at the issues from a top-down 'systems biology' perspective. It concludes that it may be only the body's biochemistry and, in particular, the onset of pathologies that explain the phenomena which we recognize as developmental dyslexia. Pathologies experienced in the early prepubescent years influence neural development. They influence the speed and coherent transmission of data between the senses and neural centers. It is proposed that this explains the nature and occurrence of what we recognize as developmental dyslexia.
Carlos A. Gadia
Full Text Available OBJETIVO: Revisar os aspectos neurobiológicos do autismo e das doenças invasivas de desenvolvimento. Oferecer ao pediatra informações atualizadas sobre diagnóstico e tratamento. FONTES DOS DADOS: Revisão bibliográfica, abordando o tema por meio do sistema MEDLINE e procura direta. SÍNTESE DOS DADOS: Conforme dados da literatura, o autismo é a terceira mais comum desordem no desenvolvimento, ocorrendo em 40 a 130 casos por 100.000. O diagnóstico é clínico, baseado nos critérios do DSM-IV. Os exames de neuroimagem e neurofetologia e os estudos genéticos contribuem para o melhor entendimento da neurobiologia do autismo. CONCLUSÃO: O pediatra é o primeiro médico a entrar em contato com o paciente autista e deve estar apto para reconhecer os desvios do desenvolvimento e orientar a investigação e o tratamento multidisciplinar.OBJECTIVE: To review the current knowledge on neurobiological aspects of autism and pervasive developmental disorders, as well as to provide pediatricians with up to date information on diagnosis and treatment of autism. SOURCES OF DATA: Review of MEDLINE and Internet. SUMMARY OF THE FINDINGS: Autism is the 3rd developmental disorder, with an incidence of 40 to 130/100,000 individuals. Diagnosis is based on clinical findings, following DSM IV criteria. Neuroimaging, investigation of fetal neurological status, and genetic investigation contribute towards a better understanding of the neurobiology of autism. CONCLUSION: Pediatricians are the first health professional to come in contact with patients with autism. Thus, they should be able to diagnose and to coordinate the multidisciplinary treatment of these patients.
Lipstein, Ellen A; Lindly, Olivia J; Anixt, Julia S; Britto, Maria T; Zuckerman, Katharine E
Shared decision making (SDM) is most needed when there are multiple treatment options and no "right" choice. As with quality and experience of care, frequency of SDM may vary by health condition. The objectives of this study were (1) to compare parent report of SDM between a physical and a behavioral health condition and; (2) to compare parent report of SDM between two different behavioral health conditions. Data on children age 3-17 years with asthma, attention deficit/hyperactivity disorder (ADHD), and/or autism spectrum disorder (ASD) were drawn from the 2009/10 National Survey of Children with Special Health Care Needs. Weighted logistic regression was used to compare a parent-reported, composite measure of SDM. Analyses controlled for sociodemographic factors that may influence experience of SDM. Compared to parents of children with asthma, parents of children with ADHD were significantly less likely to report experiencing consistent SDM (AOR 0.73). Compared to parents of children with ADHD, those of children with ASD had significantly lower odds of experiencing consistent SDM (AOR 0.59). Those with both ADHD and ASD had the same odds as those with ASD alone of experiencing consistent SDM. Use of SDM is particularly limited in developmental and behavioral conditions, such as ADHD and ASD. These data suggest that challenges to implementing SDM may include disease type, complexity, and use of specialty care. Research to identify specific barriers and facilitators of SDM is needed to inform interventions that will promote SDM in developmental and behavioral conditions.
Planning ahead and organizational abilities in time and space are ingredients of high-level cognitive functions labeled as ‘Executive Functions’ (EF) required for daily activities such as writing or home management. EF deficits are considered a possible underlying brain mechanism involved in Developmental Coordination Disorders (DCD). The aim: of the study was to compare the handwriting process measures and the planning and organizational abilities in space and time of students with DCD with those of matched controls and to find whether handwriting measures can predict daily planning and organizational abilities among students with DCD. Method: 30 students diagnosed with DCD, between the ages of 24–41, and 30 age- and gender-matched controls participated in the study. They filled out the Handwriting Proficiency Screening Questionnaire (HPSQ) and the Adult Developmental Co-ordination Disorders Checklist (ADC). Furthermore, they copied a paragraph on a digitizer that is part of a computerized system Computerised Penmanship Evaluation Toll (ComPET). Results: Significant group differences were found for the HPSQ subscales scores as well as for the temporal and spatial measures of the paragraph copy task. Significant group differences were also found for the planning and organizational abilities in space and time as reflected through the ADC subscales. Significant medium correlations were found in both groups between the mean HPSQ time subscale and the ADC-B subscale mean score (r = 0.50/0.58, p handwriting performance measures (mean HPSQ time subscale and mean stroke duration) predicted 19% of planning and organizational abilities as reflected through daily functions (ADC-B) [F(3, 54) = 38.37, β = 0.40, p handwriting and daily function among DCD will be examined. PMID:23805113
Full Text Available Background & objectives: Several studies have been conducted in India to determine the prevalence of learning disabilities in school children which has been reported to be 3-10 per cent among students population. The present study was conducted to find out prevalence of specific developmental disorder of scholastic skills in students of classes VII to XII and to find out feasibility of screening tool in Chandigarh, India. Methods: A cross-sectional study on school students was carried out in two phases. The students were drawn from classes VII to XII from 10 schools of Chandigarh, India. Details of academic performance of all the students was taken, subjectively from class teachers and objectively from the marks obtained in the last academic session. In phase I, 2402 students were assessed. In phase II, 108 students were randomly selected for evaluation for assessing sensitivity and specificity of screening proforma for teachers. A total of 124 students from phase I and all students in phase II were assessed in detail. Tests of intelligence (Malin′s Intelligence Scale for Indian Children and Standard Progressive Matrices, and NIMHANS Index for specific learning disability (SLD battery were administered. Results: A total of 38 students were found to be having specific developmental disorder of scholastic skills in phase I, that gave a prevalence of 1.58 per cent. Majority had mixed type of errors on SLD battery. There were more boys diagnosed with specific learning disability. Teacher′s screening instrument had high sensitivity (90.385 and specificity (94.68. Interpretation & conclusions: The findings of our study conducted in community, showed that specific learning disability was not identified even till later age. The screening instrument thus could be used by teachers to suspect students with specific learning disability.
Full Text Available The Day Care Institutions for children are forms of organized protection for improvement of the psycho-physical, emotional and social development of children. In this period, the growth and development are in their most intensive phase when the outside influence plays an extraordinary role both in a positive and in negative a direction. Directed and well-organized protection is of a great importance. By inclusion of children with developmental disorders in the group and with special, individual treatment of each child by adequate specialized staff, their socialization and stimulus for developmental acceleration is achieved.Many years ago, by recommendation of the Advisory Institution for Development, the doctors from the Advisory Institution for small children, the public-health nurses or by the parents initiative, the kindergartens accept children with Down syndrome, children with limited and lower level backwardness, with disharmonious development, with lower level forms of cerebral paralysis and with speech disorders.Children at the earliest age of one month are resided at the Advisory Institution for Development and receive treatment until they are categorized and are ready to start school, but certain children are sent to the kindergartens at the age of 3.In the previous years, out of five children with Down syndrome treated in the Advisory Institution for Development, four were sent to the kindergarten. Now, one of these children attends the fifth grade and two attend the first grade in a regular elementary school and one attends the special school. Three children with Spastic dyplegia, four children with lower level of retardation, two with surdomutitas and four with disharmonious development are still in the kindergarten.
Hodgson, Jessica C; Hudson, John M
Research using clinical populations to explore the relationship between hemispheric speech lateralization and handedness has focused on individuals with speech and language disorders, such as dyslexia or specific language impairment (SLI). Such work reveals atypical patterns of cerebral lateralization and handedness in these groups compared to controls. There are few studies that examine this relationship in people with motor coordination impairments but without speech or reading deficits, which is a surprising omission given the prevalence of theories suggesting a common neural network underlying both functions. We use an emerging imaging technique in cognitive neuroscience; functional transcranial Doppler (fTCD) ultrasound, to assess whether individuals with developmental coordination disorder (DCD) display reduced left-hemisphere lateralization for speech production compared to control participants. Twelve adult control participants and 12 adults with DCD, but no other developmental/cognitive impairments, performed a word-generation task whilst undergoing fTCD imaging to establish a hemispheric lateralization index for speech production. All participants also completed an electronic peg-moving task to determine hand skill. As predicted, the DCD group showed a significantly reduced left lateralization pattern for the speech production task compared to controls. Performance on the motor skill task showed a clear preference for the dominant hand across both groups; however, the DCD group mean movement times were significantly higher for the non-dominant hand. This is the first study of its kind to assess hand skill and speech lateralization in DCD. The results reveal a reduced leftwards asymmetry for speech and a slower motor performance. This fits alongside previous work showing atypical cerebral lateralization in DCD for other cognitive processes (e.g., executive function and short-term memory) and thus speaks to debates on theories of the links between motor
Pentland, Jacqueline; Maciver, Donald; Owen, Christine; Forsyth, Kirsty; Irvine, Linda; Walsh, Mike; Crowe, Miriam
The National Health Service in Scotland published a best practice framework to support occupational therapists and physiotherapists to deliver effective services for children with developmental co-ordination disorder (DCD); however, adherence is variable. To highlight areas for development, this study compared the care pathway within a paediatric DCD service against the NHS Scotland framework. A partnership of researchers and clinicians based in the United Kingdom conducted a qualitative study with 37 participants (N = 13 interview participants, N = 24 workshop participants). In-depth interviews and/or workshops were used to map the DCD service against the NHS framework. Identified gaps were aligned with four key stages of the care pathway. Qualitative analysis software was used to analyse the data. Core principles to guide future development were identified for each phase of the pathway. These core principles related to the NHS framework and focused on issues such as involving the family, defining clear pathways and enhancing children's participation. Participants identified potential strategies for service improvement such as developing community-based interventions and information provision. Challenges when providing services for children with DCD include confusing service pathways and poor partnership working. It is, therefore, important that clinicians utilise collaborative working strategies that support children's participation. There are numerous challenges related to the implementation of best practice principles into the provision of therapy services for children with developmental coordination disorder (DCD). It is important that AHPs seek ways of engaging parents and educational professionals at all stages of the care pathway in order to ensure optimum service provision for the child. Addressing participation is an important aspect and community-based strategies may be particularly beneficial, both as a preventative activity and as an
Bettencourt, Conceição; Quintáns, Beatriz; Ros, Raquel; Ampuero, Israel; Yáñez, Zuleima; Pascual, Samuel Ignacio; de Yébenes, Justo García; Sobrido, María-Jesús
Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling. © 2012 Wiley Periodicals, Inc.
Kouklari, Evangelia-Chrysanthi; Tsermentseli, Stella; Monks, Claire P
The development of executive function (EF) in autism spectrum disorder (ASD) has only been investigated using "cool"-cognitive-EF tasks. Little is known about the development of "hot"-affective-EF and whether it follows a similar developmental pathway. This study employed a cross-sectional developmental trajectories approach to examine the developmental changes in cool (working memory, inhibition, and planning) and hot EF (delay discounting and affective decision-making) of ASD participants (n = 79) and controls (n = 91) relative to age and IQ, shedding more light on the hot-cool EF organization. The developmental trajectories of some aspects of cool EF (working memory and planning) differed significantly as a function of age in ASD participants relative to controls. For both hot EFs, no significant age-related changes were found in either group. These findings extend our understanding regarding the maturation of EF from childhood through adolescence in ASD.
Full Text Available Abstract Background Little is known about the Quality of Life (QOL in parents of children with developmental diseases as compared to other severe neurological or psychiatric disorders. Aims of the present study were: to evaluate QOL in parents of children affected by Pervasive Development Disorder (PDDs, Cerebral Palsy (CP or Mental Retardation (MR as compared to a control group (CG; to evaluate QOL of parents of patients with different types of PDDs, namely Autistic Disorder (AD, High Function Autism/Asperger Syndromes (HFA/AS and Pervasive Developmental Disorder Not Otherwise Specified (PPD-NOS; and to compare the level of impairment in QOL of mothers and fathers within PDDs, CP, MR groups and between AD, HFA/AS, PDD-NOS sub-groups. Methods The sample consisted of 212 parents (115 mothers and 97 fathers of 135 children or adolescents affected by PDDs, MR or CP. An additional sample of 77 parents (42 mothers and 35 fathers of 48 healthy children was also included and used as a control group. QOL was assessed by the WHOQOL-BREF questionnaire. Results Compared with parents of healthy children, parents in the PDDs group reported impairment in physical activity (p = 0.0001 and social relationships (p = 0.0001 and worse overall perception of their QOL (p = 0.0001 and health (p = 0.005. Scores in the physical (p = 0.0001, psychological (p = 0.0001 and social relationships domains (p = 0.0001 and in the physical (p = 0.0001 and social relationships (p = 0.0001 domains were lower compared to the MR group CP group respectively. Little differences were observed between MR, CP and control groups. The level of impairment of physical (p = 0.001 and psychological (p = 0.03 well-being were higher in mothers than in fathers in the PDDs and CP groups respectively; in the other groups, and across all the other domains of QQL impairment was similar. There were no statistically significant differences in the scores between the AD, HFA/AS and PDD-NOS sub
Full Text Available However, having a baby brings positive emotions such as happiness, sense of maturity and proud, parenting's issue could cause high level of stress and child's characteristics was a detrimental factor which can effect on parent's stress, so the aim of this research was comparison of stress of caring in mothers of children with developmental, external, and internal disorders and normal children. The study population included all mothers of children with developmental, emotional, and disruptive behavior disorders, and mothers with normal children in Hamadan (a city in Iran. 240 mothers (4 groups include 60 mothers were chosen based on simple random sampling. Family inventory of life events and changes Mc Cubbin, Patterson & Wilson was used for assessing participants. The results showed that maternal stress in mothers with children who have diagnosis of disruptive behavior disorders were significantly more than of mothers of children with developmental disorders, emotional and mothers of normal children. The present study showed that disruptive behavior disorders in children have a greater impact on their mothers. So, we suggest approved psychological interventions for helping mothers of children with psychological problems, particularly children with external disorders.
Flores, Margaret M.; Schweck, Kelly B.; Hinton, Vanessa
Language intervention using Direct Instruction (DI) has shown positive results. There is a growing body of investigation of Language for Learning (LL), a DI program, on the performance of students with autism spectrum disorders (ASD) and students with developmental delays (DD). There is need for replication and extension of research to include…
Doyle, Robert L.; Frazier, Jean; Spencer, Thomas J.; Geller, Daniel; Biederman, Joseph; Wilens, Timothy
Background: Recent studies reported ADHD-like symptoms and cognitive deficits in pervasive developmental disorder (PDD). Because work in dementia documents improvement in executive function deficits with the acetylcholinesterase inhibitor donepezil, the authors reason that similar benefits could be obtained in PDD. Method: The authors describe…
Parry-Fielder, Bronwyn; Collins, Kevin; Fisher, John; Keir, Eddie; Anderson, Vicki; Jacobs, Rani; Scheffer, Ingrid E.; Nolan, Terry
Earlier research has suggested a link between epileptiform activity in the electroencephalogram (EEG) and developmental speech-language disorder (DSLD). This study investigated the strength of this association by comparing the frequency of EEG abnormalities in 45 language-normal children (29 males, 16 females; mean age 6y 11mo, SD 1y 10mo, range…
Flores, Margaret M.; Nelson, Cynthia; Hinton, Vanessa; Franklin, Toni M.; Strozier, Shaunita D.; Terry, LaTonya; Franklin, Susan
There is limited research demonstrating Direct Instruction (DI) as an effective reading comprehension intervention for students with autism spectrum disorders (ASD) and developmental disabilities (DD). Previous research has shown that DI, when portions of the program were implemented, resulted in increased skills (Flores & Ganz, 2007; Flores…
Mirzaa, Ghayda; Timms, Andrew E.; Conti, Valerio; Boyle, Evan August; Girisha, Katta M.; Martin, Beth; Kircher, Martin; Olds, Carissa; Juusola, Jane; Collins, Sarah; Park, Kaylee; Carter, Melissa; Glass, Ian; Krägeloh-Mann, Inge; Chitayat, David; Parikh, Aditi Shah; Bradshaw, Rachael; Torti, Erin; Braddock, Stephen; Burke, Leah; Ghedia, Sondhya; Stephan, Mark; Stewart, Fiona; Prasad, Chitra; Napier, Melanie; Saitta, Sulagna; Straussberg, Rachel; Gabbett, Michael; O'Connor, Bridget C.; Keegan, Catherine E.; Yin, Lim Jiin; Lai, Angeline Hwei Meeng; Martin, Nicole; McKinnon, Margaret; Addor, Marie-Claude; Boccuto, Luigi; Schwartz, Charles E.; Lanoel, Agustina; Conway, Robert L.; Devriendt, Koenraad; Tatton-Brown, Katrina; Pierpont, Mary Ella; Painter, Michael; Worgan, Lisa; Reggin, James; Hennekam, Raoul; Tsuchiya, Karen; Pritchard, Colin C.; Aracena, Mariana; Gripp, Karen W.; Cordisco, Maria; Esch, Hilde Van; Garavelli, Livia; Curry, Cynthia; Goriely, Anne; Kayserilli, Hulya; Shendure, Jay; Graham, John; Guerrini, Renzo; Dobyns, William B.
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS
Pieters, Stefanie; Roeyers, Herbert; Rosseel, Yves; Van Waelvelde, Hilde; Desoete, Annemie
A relationship between motor and mathematical skills has been shown by previous research. However, the question of whether subtypes can be differentiated within developmental coordination disorder (DCD) and/or mathematical learning disability (MLD) remains unresolved. In a sample of children with and without DCD and/or MLD, a data-driven…
Developmental coordination disorder (DCD) is a condition characterized by difficulty in the development of motor coordination and learning new motor skills. It impacts on a child's ability to carry out everyday tasks such as getting dressed, using cutlery, writing or drawing, running, and playing sport. It is not due to any intellectual difficulty…
The purpose of this preliminary study was to (a) examine relationships between the symbolic and language skills of a mixed (developmental language disordered [DLD] and typical language [TL]) Spanish-speaking sample; (b) describe gesture, play, and language skills of DLD and TL groups; (c) compare the development between groups; and (d) explore…
Salvador-Carulla, Luis; Reed, Geoffrey M; Vaez-Azizi, Leila M; Cooper, Sally-Ann; Martinez-Leal, Rafael; Bertelli, Marco; Adnams, Colleen; Cooray, Sherva; Deb, Shoumitro; Akoury-Dirani, Leyla; Girimaji, Satish Chandra; Katz, Gregorio; Kwok, Henry; Luckasson, Ruth; Simeonsson, Rune; Walsh, Carolyn; Munir, Kemir; Saxena, Shekhar
Although "intellectual disability" has widely replaced the term "mental retardation", the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)'s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as "a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills". The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features.
Nakai, Akio; Miyachi, Taishi; Okada, Ryo; Tani, Iori; Nakajima, Shunji; Onishi, Masafumi; Fujita, Chikako; Tsujii, Masatsugu
Developmental Coordination Disorder (DCD) is characterized by clumsiness and coordination difficulties. DCD interferes with academic performance and participation in physical activities and psychosocial functions, such as self-esteem, cognition, or emotion, from childhood through adolescence to adulthood. DCD is a common pediatric condition and…
Noordstar, Johannes J.; Stuive, Ilse; Herweijer, Hester; Holty, Lian; Oudenampsen, Chantal; Schoemaker, Marina M.; Reinders-Messelink, Heleen A.
The relationship between perceived athletic competence (PAC) and physical activity (PA) in children with developmental coordination disorder (DCD) is still unclear. This study investigated differences in PAC and PA between, and within, a group of children with DCD that were clinically referred (n =
Jelsma, Dorothee; Geuze, Reint; Klerks, M.; Niemeijer, Anuschka; Smits-Engelsman, B.C.M.
Background: The purpose of this study was to determine whether joint mobility is associated with motor performance in children referred for Developmental Coordination Disorder (DCD-group) in contrast to a randomly selected group of children between 3-16 years of age (Random-Group). Methods: 36
Flapper, Boudien C.T.; Schoemaker, Marina M.
Co-morbidity of Developmental Coordination Disorder (DCD) in children with specific language impairment (SLI) and the impact of DCD on quality-of-life (QOL) was investigated in 65 5-8 year old children with SLI (43 boys, age 6.8 +/- 0.8; 22 girls, age 6.6 +/- 0.8). The prevalence of DCD was assessed
Fong, Shirley S. M.; Tsang, William W. N.; Ng, Gabriel Y. F.
Children with developmental coordination disorder (DCD) have poorer postural control and are more susceptible to falls and injuries than their healthy counterparts. Sports training may improve sensory organization and balance ability in this population. This study aimed to evaluate the effects of three months of Taekwondo (TKD) training on the…
Silberg, Judy L.; Bulik, Cynthia M.
Objective: We investigated the role of genetic and environmental factors in the developmental association among symptoms of eating disorders, depression, and anxiety syndromes in 8-13-year-old and 14-17-year-old twin girls. Methods: Multivariate genetic models were fitted to child-reported longitudinal symptom data gathered from clinical interview…
Clegg, J.; Hollis, C.; Mawhood, L.; Rutter, M.
Background: Little is known on the adult outcome and longitudinal trajectory of childhood developmental language disorders (DLD) and on the prognostic predictors. Method: Seventeen men with a severe receptive DLD in childhood, reassessed in middle childhood and early adult life, were studied again in their mid-thirties with tests of intelligence…
Martini, Rose; Polatajko, Helene J.
Replicating a 1994 study, four children with developmental coordination disorder (DCD) were taught a verbal self-guidance strategy (Goal, Plan, Do, Check) by an occupational therapist. All four improved performance in attaining their occupational goals, supporting the possible use of a cognitive strategy with children with DCD. (SK)
White, Susan W.; Smith, Laura A.; Schry, Amie R.
Assessment of global functioning is an important consideration in treatment outcome research; yet, there is little guidance on its evidence-based assessment for children with autism spectrum disorders. This study investigated the utility and validity of clinician-rated global functioning using the Developmental Disability-Child Global Assessment…
Greaves-Lord, Kirstin; Eussen, Mart L. J. M.; Verhulst, Frank C.; Minderaa, Ruud B.; Mandy, William; Hudziak, James J.; Steenhuis, Mark Peter; de Nijs, Pieter F.; Hartman, Catharina A.
This study aimed to contribute to the Diagnostic and Statistical Manual (DSM) debates on the conceptualization of autism by investigating (1) whether empirically based distinct phenotypic profiles could be distinguished within a sample of mainly cognitively able children with pervasive developmental disorder (PDD), and (2) how profiles related to…
Jelsma, Dorothee; Geuze, Reint H; Mombarg, Remo; Smits-Engelsman, Bouwien C.M.
The aim of this study was to examine differences in the performance of children with probable Developmental Coordination Disorder (p-DCD) and balance problems (BP) and typical developing children (TD) on a Wii Fit task and to measure the effect on balance skills after a Wii Fit intervention.
Limperg, P F; Haverman, L; Maurice-Stam, H; Coppens, M; Valk, C; Kruip, M J H A; Eikenboom, J; Peters, M; Grootenhuis, M A
The treatment of bleeding disorders improved in the last decades. However, the effect of growing up with bleeding disorders on developmental, emotional, and social aspects is understudied. Therefore, this study assesses HRQOL, developmental milestones, and self-esteem in Dutch young adults (YA) with bleeding disorders compared to peers. Ninety-five YA (18-30 years) with bleeding disorders (78 men; mean 24.7 years, SD 3.5) and 17 women (mean 25.1 years, SD 3.8) participated and completed the Pediatric Quality of Life Inventory Young Adult version, the Course of Life Questionnaire, and the Rosenberg Self-Esteem Scale. Differences between patients with bleeding disorders and their peers, and between hemophilia severity groups, were tested using Mann-Whitney U tests. YA men with bleeding disorders report a slightly lower HRQOL on the total scale, physical functioning, and school/work functioning in comparison to healthy peers (small effect sizes). YA men with severe hemophilia report more problems on the physical functioning scale than non-severe hemophilia. YA men with bleeding disorders achieved more psychosexual developmental milestones than peers, but show a delay in 'paid jobs, during middle and/or high school.' A somewhat lower self-esteem was found in YA men with bleeding disorders in comparison to peers (small effect size). For YA women with bleeding disorders, no differences were found on any of the outcomes in comparison to peers. This study demonstrates some impairments in HRQOL and self-esteem in YA men with bleeding disorders. By monitoring HRQOL, problems can be identified early, especially with regard to their physical and professional/school functioning.
Full Text Available Objective: To retrospectively examine the developmental and clinical characteristics of children with autism spectrum disorders (ASD in the first 2 years of life in order to narrow the interval between parental concern and getting a reliable diagnosis of autism. Materials and Methods: The case records of 21 children in whom a diagnosis of ASD was made in the first 2 years of life and confirmed 6 months to 1 year later were examined. The inclusion criterion was absence of neurological, metabolic, or genetic disorders and sensory or motor impairments. These case records were maintained in the Pediatric Psychology Clinic at the Department of Pediatrics of a tertiary care teaching hospital in North India. Results: The average age at presentation to the clinic was 21.23 months (SD = 2.18. The clinical characteristics that were found in two-thirds or more children included lack of speech, inability to follow verbal commands, lack of pretend play, no index finger pointing, difficulty in playing with toys in a constructive manner, lack of joint attention, and motor stereotypies. The mean IQ was 66.62 (SD = 15.11 and the mean SQ as measured by the Vineland Social Maturity Scale was 80.43 (SD = 17.45. Conclusions: Given the validity of early diagnosis over time, clinicians should be encouraged not only to make an early diagnosis but also to initiate early interventions in children with ASD.
Kendler, K. S.; Jacobson, K.; Myers, J. M.; Eaves, L. J.
Background Conduct disorder (CD) and peer deviance (PD) both powerfully predict future externalizing behaviors. Although levels of CD and PD are strongly correlated, the causal relationship between them has remained controversial and has not been examined by a genetically informative study. Method Levels of CD and PD were assessed in 746 adult male–male twin pairs at personal interview for ages 8–11, 12–14 and 15–17 years using a life history calendar. Model fitting was performed using the Mx program. Results The best-fit model indicated an active developmental relationship between CD and PD including forward transmission of both traits over time and strong causal relationships between CD and PD within time periods. The best-fit model indicated that the causal relationship for genetic risk factors was from CD to PD and was constant over time. For common environmental factors, the causal pathways ran from PD to CD and were stronger in earlier than later age periods. Conclusions A genetically informative model revealed causal pathways difficult to elucidate by other methods. Genes influence risk for CD, which, through social selection, impacts on the deviance of peers. Shared environment, through family and community processes, encourages or discourages adolescent deviant behavior, which, via social influence, alters risk for CD. Social influence is more important than social selection in childhood, but by late adolescence social selection becomes predominant. These findings have implications for prevention efforts for CD and associated externalizing disorders. PMID:17935643
Full Text Available Objectives: Developmental Coordination Disorder (DCD is a motor skill disorder which impacts upon a child, s ability to perform age-appropriate activity of daily living and academic performance. They have problems in gross & fine motors, their upper limb coordination are impaired, too. In this way, we decided to compare motors skills with BOTMP test in children with DCD and their normal peers. Methods: In this study 30 children with DCD (age range is 6/5-8/5 have studied and compared with their normal peers. Bruininks-Oseretsky Test of Motor Proficiency (BOTMP was used. Results: The study showed Motor skills in DCD children are significantly poorer than their normal peers. (P<0/001 Gross motor, Fine motor skills and the upper limb coordination are significant impaired in DCD children. Discussion: In the process of evaluation Children with DCD, standard instrument, like BOTMP can be used.BOTMP detected deficiency in gross & fine motor and other area like, upper limb coordination. We need accurate in formations for better treatment. BOTMP can be used in the process of evaluation for every DCD child, after that goals of treatment will be clearer.
Rosenblum, Sara; Margieh, Jumana Aassy; Engel-Yeger, Batya
Developmental coordination disorders (DCD) is one of the most common disorders affecting school-aged children. The study aimed to characterize the handwriting performance of children with DCD who write in Arabic, based on triangular evaluation. Participants included 58 children aged 11-12 years, 29 diagnosed with DCD based on the DSM-IV criteria and the M-ABC, and 29 matched typically developed controls. Children were asked to copy a paragraph on a sheet of paper affixed to a digitizer supplying objective measures of the handwriting process. The handwriting proficiency screening questionnaire (HPSQ) was completed by their teachers while observing their performance and followed by evaluation of their final written product. Results indicated that compared to controls, children with DCD required significantly more on-paper and in-air time per stroke while copying. In addition, global legibility, unrecognizable letters and spatial arrangement measures of their written product were significantly inferior. Significant group differences were also found between the HPSQ subscales scores. Furthermore, 82.8% of all participants were correctly classified into groups based on one discriminate function which included two handwriting performance measures. These study results strongly propose application of triangular standardized evaluation to receive better insight of handwriting deficit features of individual children with DCD who write in Arabic. Copyright © 2013 Elsevier Ltd. All rights reserved.
Cheng, Yufang; Huang, Ruowen
The focus of this study is using data glove to practice Joint attention skill in virtual reality environment for people with pervasive developmental disorder (PDD). The virtual reality environment provides a safe environment for PDD people. Especially, when they made errors during practice in virtual reality environment, there is no suffering or dangerous consequences to deal with. Joint attention is a critical skill in the disorder characteristics of children with PDD. The absence of joint attention is a deficit frequently affects their social relationship in daily life. Therefore, this study designed the Joint Attention Skills Learning (JASL) systems with data glove tool to help children with PDD to practice joint attention behavior skills. The JASL specifically focus the skills of pointing, showing, sharing things and behavior interaction with other children with PDD. The system is designed in playroom-scene and presented in the first-person perspectives for users. The functions contain pointing and showing, moving virtual objects, 3D animation, text, speaking sounds, and feedback. The method was employed single subject multiple-probe design across subjects' designs, and analysis of visual inspection in this study. It took 3 months to finish the experimental section. Surprisingly, the experiment results reveal that the participants have further extension in improving the joint attention skills in their daily life after using the JASL system. The significant potential in this particular treatment of joint attention for each participant will be discussed in details in this paper. Copyright © 2012 Elsevier Ltd. All rights reserved.
Giagazoglou, Paraskevi; Sidiropoulou, Maria; Mitsiou, Maria; Arabatzi, Fotini; Kellis, Eleftherios
The present study aimed to examine movement difficulties among typically developing 8- to 9-year-old elementary students in Greece and to investigate the possible effects of a balance training program to those children assessed with Developmental Coordination Disorder (DCD). The Body Coordination Test for Children (BCTC; Körperkoordinationstest fur Kinder, KTK, Kiphard & Schilling, 1974) was chosen for the purposes of this study and 20 children out of the total number of 200, exhibited motor difficulties indicating a probable DCD disorder. The 20 students diagnosed with DCD were equally separated into two groups where each individual of the experimental group was paired with an individual of the control group. The intervention group attended a 12-week balance training program while students of the second - control group followed the regular school schedule. All participants were tested prior to the start and after the end of the 12-week period by performing static balance control tasks while standing on an EPS pressure platform and structured observation of trampoline exercises while videotaping. The results indicated that after a 12-week balance training circuit including a trampoline station program, the intervention group improved both factors that were examined. In conclusion, balance training with the use of attractive equipment such as trampoline can be an effective intervention for improving functional outcomes and can be recommended as an alternative mode of physical activity. Copyright © 2014 Elsevier Ltd. All rights reserved.
Hamlyn-Wright, Sarah; Draghi-Lorenz, Riccardo; Ellis, Jason
Stress, anxiety and depression are raised amongst parents of children with a developmental disorder. However, the processes by which stress leads to depression and anxiety are poorly understood. In a cross-sectional survey, levels of parental stress, depression and anxiety were compared between parents of children with an autistic disorder, children with Down's syndrome and children with no disorder (N = 619) and the mediational role of locus of control was examined. Anxiety and depression were higher in parents of children with a disorder, and highest in parents of children with autism. Locus of control was more external in parents of children with autism. Locus of control failed to mediate the relationship between stress and both anxiety and depression in parents of children with a disorder. This suggests that help for parents of a child with a disorder may be effective if focused on the sources of stress rather than perceived control over events.
García Primo, P; Santos Borbujo, J; Martín Cilleros, M V; Martínez Velarte, M; Lleras Muñoz, S; Posada de la Paz, M; Canal Bedia, R
To evaluate the results of the Pervasive Developmental Disorders (PDD) screening program currently ongoing in the public health services in the health area of Salamanca and Zamora, Spain, in terms of feasibility, reliability and costs, with the purpose of extending the program at regional and national levels. A total of 54 paediatric teams (nurses and paediatricians) from the provinces of Salamanca and Zamora participated in the training sessions for the PDD Screening Programme in September 2005, and agreed to administer the questionnaire M-CHAT(1) to all parents attending their clinics in any of these two visits: 18 months and/or 24 months within the Well-baby Check-up Program. A total of 9,524 children have participated up to December 2012. Additionally, we evaluated the participation and opinions of the paediatric teams using questionnaires, and costs per positive case have estimated. Out of a total of 852 (8.9%) children determined as PDD high-risk with the M-CHAT questionnaire results, 61 (7.1%) were confirmed as positive with the M-CHAT follow-up interview. Of these, 22 were diagnosed with a PDD and 31 other disorders of childhood onset according to DSM-IV-TR(2). Almost three-quarters (74%) of respondents felt the program was totally feasible, and 22% viable, but with reservations (n=54). This study has been able to show for the first time in Spain, the feasibility of a population-based PDD screening program within the public health system. Training in social and communicative development, and dissemination of the early signs of PDD among paediatricians, as well as the use of the M-CHAT, is essential for progress in the early detection of these disorders. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.
Neurodiversity, a term initially used mostly by civil and human rights movements since the 1990s, refers to the notion that cognitive as well as emotional properties characteristic of developmental disorders such as autism spectrum disorders (ASD) are not necessarily deficits, but fall within normal behavioural variations exhibited by humans. The purpose of the present article is to examine the relevance of this notion to scientific research on ASD. On the assumption that one crucial survival advantage of intelligent activity is vigilance toward dangers in the external world, and such vigilance must work in the social domain as well as in the non-social domain, the author argues that the pattern of operation of an individual person's mind can be categorized according to the domain toward which that individual is more oriented. Individuals with ASD, overall, do not rely upon their social relationships but rather are predisposed to process perceived non-social objects in more depth, which manifests itself as hyper-sensation and hyper-attention to detail. It can be assumed that underconnectivity among cortical areas and subcortical areas underlies such mental operation neurologically. One of the main predictions based on this assumption is that all facets of psychological function are susceptible to disruption in ASD. Indeed, it has traditionally been thought that there are such general deficits in this disorder. However, contrary to the prevalent belief that people with ASD lack empathy, in fact people with ASD are capable of empathizing with the minds of others if those others are people with ASD. Thus, the neurological underconnectivity in ASD certainly leads some processing of information in the mind to work with less coordination, but has in fact contributed to providing Homo sapiens with behavioural variants. Finally, the clinical implications of the advantages of viewing ASD as a variation in neurodiversity are discussed.
Carona, Carlos; Silva, Neuza; Moreira, Helena
Research on the quality of life (QL) of children/adolescents with psychological disorders has flourished over the last few decades. Given the developmental challenges of QL measurements in pediatric populations, the aim of this study was to ascertain the extent to which a developmental approach to QL assessment has been applied to pedopsychiatric QL research. A systematic literature search was conducted in three electronic databases (PubMed, PsycINFO, SocINDEX) from 1994 to May 2014. Quantitative studies were included if they assessed the self- or proxy-reported QL of children/adolescents with a psychological disorder. Data were extracted for study design, participants, QL instruments and informants, and statistical approach to age-related specificities. The systematic review revealed widespread utilization of developmentally appropriate QL instruments but less frequent use of both self and proxy reports and an inconsistent approach to age group specificities. Methodological guidelines are discussed to improve the developmental validity of QL research for children/adolescents with mental disorders.
Segal, J Bradley
Certain genes and neurobiology ('neurogenetics') may predispose some people to violent behavior. Increasingly, defendants introduce neurogenetic evidence as a mitigating factor during criminal sentencing. Identifying the cause of a criminal act, biological or otherwise, does not necessarily preclude moral or legal liability. However, valid scientific evidence of an inherited proclivity sometimes should be considered when evaluating whether a defendant is less morally culpable for a crime and perhaps less deserving of punishment. This Note proposes a two-pronged test to understand whether and when neurogenetic evidence should be considered to potentially mitigate an individual's culpability for criminal behavior. The first prong normatively assesses whether a defendant meets a threshold of having meaningfully managed his risk of harming others based on what he knew, or should have known, about his own proclivities to violence. The second prong considers the admissibility of the evidence based on whether the specific neurogenetic proclivity claimed by the defendant is relevant and adequately supported by science so as to be reliable. This proposed two-pronged test, beginning with an ethical threshold and followed by a scientific hurdle, can help judges and juries establish when to accept arguments for neurogenetic mitigation at sentencing, and when to reject them.
Bogdan, R; Hyde, L W; Hariri, A R
Neurogenetics research has begun to advance our understanding of how genetic variation gives rise to individual differences in brain function, which, in turn, shapes behavior and risk for psychopathology. Despite these advancements, neurogenetics research is currently confronted by three major challenges: (1) conducting research on individual variables with small effects, (2) absence of detailed mechanisms, and (3) a need to translate findings toward greater clinical relevance. In this review, we showcase techniques and developments that address these challenges and highlight the benefits of a neurogenetics approach to understanding brain, behavior and psychopathology. To address the challenge of small effects, we explore approaches including incorporating the environment, modeling epistatic relationships and using multilocus profiles. To address the challenge of mechanism, we explore how non-human animal research, epigenetics research and genome-wide association studies can inform our mechanistic understanding of behaviorally relevant brain function. Finally, to address the challenge of clinical relevance, we examine how neurogenetics research can identify novel therapeutic targets and for whom treatments work best. By addressing these challenges, neurogenetics research is poised to exponentially increase our understanding of how genetic variation interacts with the environment to shape the brain, behavior and risk for psychopathology.
Noda, Wataru; Ito, Hiroyuki; Fujita, Chikako; Ohnishi, Masafumi; Takayanagi, Nobuya; Someki, Fumio; Nakajima, Syunji; Ohtake, Satoko; Mochizuki, Naoto; Tsujii, Masatsugu
The purpose of this study was to explore the relationships between attention deficit/hyperactivity disorder and developmental coordination disorder symptoms and writing performance in Japanese second grade students from regular classrooms. The second grade students (N=873) in Japanese public elementary schools participated in this study. We examined a variety of writing tasks, such as tracing, copying, handwriting (Hiragana and Katakana), and spelling (Hiragana, Katakana, and Kanji). We employed the Japanese version of the home form ADHD-rating scale (ADHD-RS) and the Japanese version of the Developmental Coordination Disorder Questionnaire (DCDQ-J) to assess the developmental characteristics of the participating children. Seven writing performance scores were submitted to a principal component analysis with a promax rotation, which yielded three composite scores (Spelling Accuracy, Tracing and Copying Accuracy, and Handwriting Fluency). A multiple regression analysis found that inattention predicted Spelling Accuracy and Handwriting Fluency and that hyperactive-impulsive predicted Handwriting Fluency. In addition, fine motor ability predicted Tracing and Copying Accuracy. The current study offered empirical evidence suggesting that developmental characteristics such as inattention and fine motor skill are related to writing difficulties in Japanese typical developing children. Copyright © 2013 Elsevier Ltd. All rights reserved.
Vucetic, Slobodan; Xie, Hongbo; Iakoucheva, Lilia M; Oldfield, Christopher J; Dunker, A Keith; Obradovic, Zoran; Uversky, Vladimir N
Biologically active proteins without stable ordered structure (i.e., intrinsically disordered proteins) are attracting increased attention. Functional repertoires of ordered and disordered proteins are very different, and the ability to differentiate whether a given function is associated with intrinsic disorder or with a well-folded protein is crucial for modern protein science. However, there is a large gap between the number of proteins experimentally confirmed to be disordered and their actual number in nature. As a result, studies of functional properties of confirmed disordered proteins, while helpful in revealing the functional diversity of protein disorder, provide only a limited view. To overcome this problem, a bioinformatics approach for comprehensive study of functional roles of protein disorder was proposed in the first paper of this series (Xie, H.; Vucetic, S.; Iakoucheva, L. M.; Oldfield, C. J.; Dunker, A. K.; Obradovic, Z.; Uversky, V. N. Functional anthology of intrinsic disorder. 1. Biological processes and functions of proteins with long disordered regions. J. Proteome Res. 2007, 5, 1882-1898). Applying this novel approach to Swiss-Prot sequences and functional keywords, we found over 238 and 302 keywords to be strongly positively or negatively correlated, respectively, with long intrinsically disordered regions. This paper describes approximately 90 Swiss-Prot keywords attributed to the cellular components, domains, technical terms, developmental processes, and coding sequence diversities possessing strong positive and negative correlation with long disordered regions.
Vucetic, Slobodan; Xie, Hongbo; Iakoucheva, Lilia M.; Oldfield, Christopher J.; Dunker, A. Keith; Obradovic, Zoran; Uversky, Vladimir N.
Biologically active proteins without stable ordered structure (i.e., intrinsically disordered proteins) are attracting increased attention. Functional repertoires of ordered and disordered proteins are very different, and the ability to differentiate whether a given function is associated with intrinsic disorder or with a well-folded protein is crucial for modern protein science. However, there is a large gap between the number of proteins experimentally confirmed to be disordered and their actual number in nature. As a result, studies of functional properties of confirmed disordered proteins, while helpful in revealing the functional diversity of protein disorder, provide only a limited view. To overcome this problem, a bioinformatics approach for comprehensive study of functional roles of protein disorder was proposed in the first paper of this series (Xie H., Vucetic S., Iakoucheva L.M., Oldfield C.J., Dunker A.K., Obradovic Z., Uversky V.N. (2006) Functional anthology of intrinsic disorder. I. Biological processes and functions of proteins with long disordered regions. J. Proteome Res.). Applying this novel approach to Swiss-Prot sequences and functional keywords, we found over 238 and 302 keywords to be strongly positively or negatively correlated, respectively, with long intrinsically disordered regions. This paper describes ~90 Swiss-Prot keywords attributed to the cellular components, domains, technical terms, developmental processes and coding sequence diversities possessing strong positive and negative correlation with long disordered regions. PMID:17391015
Full Text Available Grammatical markers are not uniformly impaired across speakers of different languages, even when speakers share a diagnosis and the marker in question is grammaticalized in a similar way in these languages. The aim of this work is to demarcate, from a cross-linguistic perspective, the linguistic phenotype of three genetically heterogeneous developmental disorders: specific language impairment, Down syndrome, and autism spectrum disorder. After a systematic review of linguistic profiles targeting mainly English-, Greek-, Catalan-, and Spanish-speaking populations with developmental disorders (n = 880, shared loci of impairment are identified and certain domains of grammar are shown to be more vulnerable than others. The distribution of impaired loci is captured by the Locus Preservation Hypothesis which suggests that specific parts of the language faculty are immune to impairment across developmental disorders. Through the Locus Preservation Hypothesis, a classical chicken and egg question can be addressed: Do poor conceptual resources and memory limitations result in an atypical grammar or does a grammatical breakdown lead to conceptual and memory limitations? Overall, certain morphological markers reveal themselves as highly susceptible to impairment, while syntactic operations are preserved, granting support to the first scenario. The origin of resilient syntax is explained from a phylogenetic perspective in connection to the “syntax-before-phonology” hypothesis.
Reichow, Brian; Kogan, Cary; Barbui, Corrado; Smith, Isaac; Yasamy, M Taghi; Servili, Chiara
Developmental disorders, including intellectual disability and autism spectrum disorders, may limit an individual's capacity to conduct daily activities. The emotional and economic burden on families caring for an individual with a developmental disorder is substantial, and quality of life may be limited by a lack of services. Therefore, finding effective treatments to help this population should be a priority. Recent work has shown parent skills training interventions improve developmental, behavioural and family outcomes. The purpose of this review protocol is to extend previous findings by systematically analysing randomised controlled trials of parent skills training programmes for parents of children with developmental disorders including intellectual disabilities and autism spectrum disorders and use meta-analytic techniques to identify programme components reliably associated with successful outcomes of parent skills training programmes. We will include all studies conducted using randomised control trials designs that compare a group of parents receiving a parent skills training programme to a group of parents in a no-treatment control, waitlist control or treatment as usual comparison group. To locate studies, we will conduct an extensive electronic database search and then use snowball methods, with no limits to publication year or language. We will present a narrative synthesis including visual displays of study effects on child and parental outcomes and conduct a quantitative synthesis of the effects of parent skills training programmes using meta-analytic techniques. No ethical issues are foreseen and ethical approval is not required given this is a protocol for a systematic review. The findings of this study will be disseminated through peer-reviewed publications and international conference presentations. Updates of the review will be conducted, as necessary, to inform and guide practice. PROSPERO (CRD42014006993). Published by the BMJ Publishing
Caeyenberghs, Karen; Taymans, Tom; Wilson, Peter H; Vanderstraeten, Guy; Hosseini, Hadi; van Waelvelde, Hilde
Children with autism spectrum disorders (ASD) often exhibit motor clumsiness (Developmental Coordination Disorder, DCD), i.e. they struggle with everyday tasks that require motor coordination like dressing, self-care, and participating in sport and leisure activities. Previous studies in these neurodevelopmental disorders have demonstrated functional abnormalities and alterations of white matter microstructural integrity in specific brain regions. These findings suggest that the global organization of brain networks is affected in DCD and ASD and support the hypothesis of a 'dys-connectivity syndrome' from a network perspective. No studies have compared the structural covariance networks between ASD and DCD in order to look for the signature of DCD independent of comorbid autism. Here, we aimed to address the question of whether abnormal connectivity in DCD overlaps that seen in autism or comorbid DCD-autism. Using graph theoretical analysis, we investigated differences in global and regional topological properties of structural brain networks in 53 children: 8 ASD children with DCD (DCD+ASD), 15 ASD children without DCD (ASD), 11 with DCD only, and 19 typically developing (TD) children. We constructed separate structural correlation networks based on cortical thickness derived from Freesurfer. The children were assessed on the Movement-ABC and the Beery Test of Visual Motor Integration. Behavioral results demonstrated that the DCD group and DCD+ASD group scored on average poorer than the TD and ASD groups on various motor measures. Furthermore, although the brain networks of all groups exhibited small-world properties, the topological architecture of the networks was significantly altered in children with ASD compared with DCD and TD. ASD children showed increased normalized path length and higher values of clustering coefficient. Also, paralimbic regions exhibited nodal clustering coefficient alterations in singular disorders. These changes were disorder
Purcell, C; Romijn, A R
In 2016, 29% of pedestrians killed or seriously injured on the roads in Great Britain were under 15 years of age. Children with Developmental Coordination Disorder (DCD), a chronic disorder affecting the acquisition and execution of motor skills, may be more vulnerable at the roadside than typically developing (TD) children. Current methods used to teach road safety are typically knowledge-based and do not necessarily improve behaviour in real traffic situations. Virtual reality road crossing tasks may be a viable alternative. The present study aimed to test the road crossing accuracy of children with and without DCD in virtual reality tasks that varied the viewpoint to simulate the teaching methods currently used in road safety educational programmes. Twenty-one children with DCD and twenty-one age and gender matched TD peers were required to locate the safest road crossing sites in two conditions: allocentric (aerial viewpoint) and egocentric (first-person viewpoint). All children completed both conditions and were required to navigate either themselves or an avatar across the road using the safest crossing route. The primary outcome was accuracy defined as the number of trials, out of 10, on which the child successfully identified and used the safest crossing route. Children with DCD performed equally poorly in both conditions, while TD children were significantly more accurate in the egocentric condition. This difference cannot be explained by self-reported prior road crossing education, practice or confidence. While TD children may benefit from the development of an egocentric virtual reality road crossing task, multimodal methods may be needed to effectively teach road safety to children with DCD. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.
Zeanah, Charles H; Carter, Alice S; Cohen, Julie; Egger, Helen; Gleason, Mary Margaret; Keren, Miri; Lieberman, Alicia; Mulrooney, Kathleen; Oser, Cindy
The Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-5; ZERO TO THREE) is scheduled to be published in 2016. The articles in this section are selective reviews that have been undertaken as part of the process of refining and updating the nosology. They provide the rationales for new disorders, for disorders that had not been included previously in the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood: Revised Edition (DC:0-3R; ZERO TO THREE, 2005), and for changes in how certain types of disorders are conceptualized. © 2016 Michigan Association for Infant Mental Health.
Gomes, Tiago; Guimaraes, Joana; Leão, Miguel
In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.
Massano, João; Leão, Miguel; Garrett, Carolina
In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic. Alzheimer disease may be caused by mutations in PSEN1, PSEN2 and APP. APOE genotyping is not recommended for the diagnostic or genetic counseling purposes in Alzheimer disease. Frontotemporal dementia may be caused by mutations in several genes such as c9orf72, PGRN, MAPT, TBK1, VCP, SQSTM1, and UBQLN2. This paper pragmatically approaches the process of genetic diagnosis in Alzheimer disease and frontotemporal dementia, with specific recommendations for both disorders.
Full Text Available In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.
Sprong, M.; Becker, H. E.; Schothorst, P. F.; Swaab, H.; Ziermans, T. B.; Dingemans, P. M.; Linszen, D.; van Engeland, H.
BACKGROUND: The comparison of high-risk populations with different developmental pathways to psychosis may lend more insight into the heterogeneity of the manifestation of the psychotic syndrome, and possible differing etiological pathways. AIM: To compare high-risk traits and symptoms in two
Sprong, M.; Becker, H. E.; Schothorst, P. F.; Swaab, H.; Ziermans, T. B.; Dingemans, P. M.; Linszen, D.; van Engeland, I.
Background: The comparison of high-risk populations with different developmental pathways to psychosis may lend more insight into the heterogeneity of the manifestation of the psychotic syndrome, and possible differing etiological pathways. Aim: To compare high-risk traits and symptoms in two
Huau, Andréa; Velay, Jean-Luc; Jover, Marianne
The aim of the present study was to analyze handwriting difficulties in children with developmental coordination disorder (DCD) and investigate the hypothesis that a deficit in procedural learning could help to explain them. The experimental set-up was designed to compare the performances of children with DCD with those of a non-DCD group on tasks that rely on motor learning in different ways, namely handwriting and learning a new letter. Ten children with DCD and 10 non-DCD children, aged 8-10 years, were asked to perform handwriting tasks (letter/word/sentence; normal/fast), and a learning task (new letter) on a graphic tablet. The BHK concise assessment scale for children's handwriting was used to evaluate their handwriting quality. Results showed that both the handwriting and learning tasks differentiated between the groups. Furthermore, when speed or length constraints were added, handwriting was more impaired in children with DCD than in non-DCD children. Greater intra-individual variability was observed in the group of children with DCD, arguing in favor of a deficit in motor pattern stabilization. The results of this study could support both the hypothesis of a deficit in procedural learning and the hypothesis of neuromotor noise in DCD. Copyright © 2015 Elsevier B.V. All rights reserved.
Ricciutello, Cosimo; Cheli, Mariagnese; Montenegro, Maria Elena; Campieri, Michela; Fini, Andrea; Pincanelli, Francesca
To highlight the harmfulness and pervasive of early and repeated exposure to family violence from the theoretical perspective of complex trauma as a developmental disorder. A study carried out on a sample of 22 adolescents between the ages of 15 and 18, who have been entrusted to Il Faro Bologna, a Specialist Centre for child abuse and neglect. Specific areas of psychological functioning were examined. According to the NCTSN these areas are considered vulnerable to violence in primary relationships and crucial for future mental health. They are attachment, self-concept, affect regulation, cognition and behavioural control. The data was correlated with the different forms of maltreatment and the main risk factors detected in the family environment and was collected by means of clinical interviews, family and social histories, structured interviews and self-reports recommended by the NASMHPD. The data highlights a correlation between the psychic functions examined and exposure to family violence, distortion of parental empathy and parental responsibility failure. The study indicates the need: a) to raise clinical awareness of the consequences of complex trauma on development; b) to adopt specific diagnostic tools for evaluating post-traumatic outcomes; c) to carry out regular screening in order to explore histories of maltreatment in patients cared for by mental health services.
Chokron, Sylvie; Dutton, Gordon N.
Cerebral visual impairment (CVI) has become the primary cause of visual impairment and blindness in children in industrialized countries. Its prevalence has increased sharply, due to increased survival rates of children who sustain severe neurological conditions during the perinatal period. Improved diagnosis has probably contributed to this increase. As in adults, the nature and severity of CVI in children relate to the cause, location and extent of damage to the brain. In the present paper, we define CVI and how this impacts on visual function. We then define developmental coordination disorder (DCD) and discuss the link between CVI and DCD. The neuroanatomical correlates and aetiologies of DCD are also presented in relationship with CVI as well as the consequences of perinatal asphyxia (PA) and preterm birth on the occurrence and nature of DCD and CVI. This paper underlines why there are both clinical and theoretical reasons to disentangle CVI and DCD, and to categorize the features with more precision. In order to offer the most appropriate rehabilitation, we propose a systematic and rapid evaluation of visual function in at-risk children who have survived preterm birth or PA whether or not they have been diagnosed with cerebral palsy or DCD. PMID:27757087
Andrea De Giacomo
Full Text Available Andrea De Giacomo1, Claudia Portoghese1, Domenico Martinelli2, Isabella Fanizza1, Luciano L’Abate3, Lucia Margari11Child Neurological and Psychiatric Unit, Department of Neurological and Psychiatric sciences, University of Bari, Italy; 2Department of Biomedical science and Oncology, University of Bari, Italy; 3Department of Psychology, Georgia State University Abstract: This study evaluates the correlation between failure to develop spontaneous imitation and language skills in pervasive developmental disorders. Sixty-four children between the age of 3 and 8 years were assessed using the Autism Diagnostic Interview-Revised (ADI-R, the Childhood Autism Rating Scale (CARS, and the Autism Diagnostic Observation Schedule (ADOS, as well as direct observation of imitation. The sample was subdivided into a verbal and a nonverbal group. Analysis of mean scores on the CARS “imitation” items and of ADI-R “spontaneous imitation” and “pointing to express interest” revealed a statistically significant difference between verbal and nonverbal groups, with more severe impairment/higher scores in the nonverbal than the verbal group. These results suggest that nonverbal children have specifically impaired imitation and pointing skills.Keywords: autism, imitation, communication, language, pointing
Castro-Rebolledo, R; Giraldo-Prieto, M; Hincapié-Henao, L; Lopera, F; Pineda, D A
This article presents an updated review about the definition, diagnostic criteria, classifications, etiology and the evolution of the specific language impairment (SLI). The specific language impairment is characterized by a developmental language delay and an impaired language, that persist over time and it is not explained by sensorial, motor and mental disabilities, neither by psycopathological disorders, socio-emotional deprivation, nor brain injury. The diagnosis is based on exclusional criteria. Some researchers propose different classifications considering the children performance in language comprehension and language production. Genetical linkage to the FOXP2 gen in the SPCH1 region of the chromosome 7 and to the chromosomes 13, 16 y 19 has been reported. The neuroimage studies have shown alterations in the volume and perfusion of some brain structures related to language. The manifestations of SLI may change during the development of the children and may disturb the self-esteem, the academic performance and the social abilities. The variability in the linguistic and cognitive performance, and the variety in the etiological findings in children with SLI, don't allow to settle the affected population as an homogeneous group. Different theoretical positions have emerged as a consequence of this condition.
Rakhlin, Natalia; Kornilov, Sergey A; Kornilova, Tatiana V; Grigorenko, Elena L
We investigated relative clause (RC) comprehension in 44 Russian-speaking children with typical language (TD) and developmental language disorder (DLD); M age = 10.67, SD = 2.84, and 22 adults. Flexible word order and morphological case in Russian allowed us to isolate factors that are obscured in English, helping us to identify sources of syntactic complexity and evaluate their roles in RC comprehension by children with typical language and their peers with DLD. We administered a working memory and an RC comprehension (picture-choice) task, which contained subject- and object-gap center-embedded and right branching RCs. The TD group, but not adults, demonstrated the effects of gap, embedding, and case. Their lower accuracy relative to adults was not fully attributable to differences in working memory. The DLD group displayed lower than TD children overall accuracy, accounted for by their lower working memory scores. While the effect of gap and embedding on their performance was not different from what was found for the TD group, children with DLD exhibited a diminished effect of case, suggesting reduced sensitivity to morphological case markers as processing cues. The implications of these results to theories of syntactic complexity and core deficits in DLD are discussed.
Rakhlin, Natalia; Kornilov, Sergey A; Reich, Jodi; Grigorenko, Elena L
We examined anaphora resolution in children with and without Developmental Language Disorder (DLD) to clarify whether 1) DLD is best understood as missing knowledge of certain linguistic operations/elements or as unreliable performance and 2) if comprehension of sentences with anaphoric expressions as objects and exceptionally case marked (ECM) subjects supports a particular theoretical account of anaphora. Fifty-four native-Russian-speaking children (age M = 7;6, SD = 1;9) were tested on a picture selection task. Children with DLD (n=18) underperformed overall, but displayed similar patterns to the typically developing (TD) group with respect to the extra difficulty of the ECM relative to the transitive and ECM pronouns relative to all other conditions. However, whereas pronouns were more difficult than reflexives for the TD children, this effect was not significant for the DLD group, whose reduced accuracy on reflexives washed out the effect of pronouns in that group. These results are consistent with performance-level vulnerability in DLD, arguably related to weaknesses in lexical processing and with the Reflexivity framework of Binding phenomena.
Camden, Chantal; Rivard, Lisa M; Hurtubise, Karen; Héguy, Léa; Berbari, Jade
Communities of practice (CoPs) are useful knowledge translation (KT) strategies, but little is known about their impact on physical therapists' self-perceived practice. The impact of a CoP on physical therapists' self-perceived practice was evaluated, and factors influencing changes in self-perceived knowledge, skills, and practice related to developmental coordination disorder (DCD) were explored. An explanatory sequential mixed-methods design was used, guided by the Theory of Reasoned Action and Theory of Planned Behavior. Physical therapists participated in a DCD physical therapist CoP, which included 2 full-day, face-to-face workshops, with access to a 5-month online forum between the workshops, and completed questionnaires at 3 time-points: before the first workshop, before accessing the online forum, and following the second workshop. Measures completed before and after the CoP included closed-ended questions providing global scores on therapists' self-perceived knowledge, skills, and practice. Physical therapists' sociodemographic characteristics, information-seeking style, use of the online forum, and behavioral change goals were also collected. Paired t-tests, ANCOVAs, and linear regression models were used to analyze the data. Forty-one physical therapists completed all questionnaires. Their self-perceived knowledge, skills, and practice change scores were significantly higher (+0.47, +1.23, and +2.61, respectively; P behavioral changes influence patient outcomes. © 2017 American Physical Therapy Association
Full Text Available Stereotyped behavior is defined as rhythmically repeated movements constant in shape and amplitude. They are natural at certain levels of neuromuscular maturation in early age, yet in case of some developmental disorders they attain pathological forms, last significantly longer and hamper everyday adaptation including self-injurious behavior. Stereotypies are observed in case of various impairments like autism, mental retardation, blindness, deafness and in children in orphanage. The general point for all these impairments is the presence of some kind of deprivation: sensory or social. It is suggested that children with autism and mental retardation experience difficulties with development and coordination of visual, auditory and tactile-kinesthetic signals, and that is why they are exposed to a kind of deprivation similar to that of blind and deaf children. Pathogenesis of stereotyped behavior is often regarded as provoked by abnormal functioning ofdopamine-ergic and GABA-ergic neurons of the system: frontal cortex-thalamus-cerebellum, whose development takes several years of life and is extremely sensitive to impoverished environment.
Patel, Priya; Gabbard, Carl
While Developmental Coordination Disorder (DCD) has gained worldwide attention, in India it is relatively unknown. The revised DCD Questionnaire (DCDQ'07) is one of the most utilized screening tools for DCD. The aim of this study was to translate the DCDQ'07 into the Hindi language (DCDQ-Hindi) and test its basic psychometric properties. The DCDQ'07 was translated following guidelines for cross cultural adaptation of instruments. Parents of 1100 children (5-15 years) completed the DCDQ-Hindi, of which 955 were considered for data analysis and 60 were retested randomly after 3 weeks for test-retest reliability. The DCDQ-Hindi showed high internal consistency (α = .86) and moderate test-retest reliability (.73). Confirmatory factor analysis showed equivalence to the DCDQ'07. The% probable DCD using DCDQ'07 cutoff scores (≤57) ranged from 22% to 68%. Using more stringent cutoffs (≤36) it ranged from 5% to 9%. Significant difference was seen for gender (p < .05) in subset 1(gross-motor skills) total scores. The DCDQ-Hindi reveals promise for initial identification of Hindi speaking Indian children with DCD. Based on more stringent cut-off scores, the "probable prevalence" of children with risk of DCD in India appears to be around 6-7%. Research with larger sample and comparison with the MABC-2 or equivalent is needed.
Yu, Jie; Sit, Cindy H; Burnett, Angus; Capio, Catherine M; Ha, Amy S; Huang, Wendy Y
The purpose of this study was to examine the effects of fundamental movement skills (FMS) training on FMS proficiency, self-perceived physical competence (SPC), physical activity (PA), and sleep disturbance in children with developmental coordination disorder (DCD) compared with children with typical development (TD). A total of 84 children were allocated into either experimental group (DCD[exp], TD[exp]) who received 6 weeks of FMS training or control groups (DCD[con], TD[con]). FMS were assessed using the Test of Gross Motor Development-2, whereas PA was monitored using accelerometers. SPC and sleep disturbance were evaluated using questionnaires. Results showed that the DCD[exp] group had significantly higher scores in FMS and SPC compared with the DCD[con] group at posttest. The DCD[exp] group scored lower in sleep disturbance at follow-up when compared with posttest. It is suggested that short-term FMS training is effective in improving FMS and SPC and reducing sleep disturbances for children with DCD.
Prunty, Mellissa M; Barnett, Anna L; Wilmut, Kate; Plumb, Mandy S
Handwriting difficulties are often included in descriptions of Developmental Coordination Disorder (DCD). They are cited as the most common reason for referral to health professionals following parent and teacher concerns about slow and untidy writing. The aim of this study was to compare handwriting performance in English children with and without DCD across a range of writing tasks, to gain a better understanding of the nature of 'slowness' so commonly reported. Twenty-eight 8-14 year-old children with a diagnosis of DCD participated in the study, with 28 typically developing age and gender matched controls. Participants completed the four handwriting tasks from the Detailed Assessment of Speed of Handwriting (DASH) and wrote their own name; all on a digitising writing tablet. The number of words written, speed of pen movements and the time spent pausing during the tasks were calculated. The findings confirmed what many professionals report, that children with DCD produce less text than their peers. However, this was not due to slow movement execution, but rather a higher percentage of time spent pausing. Discussion centres on the understanding of the pausing phenomenon in children with DCD and areas for further research. Copyright © 2013 Elsevier Ltd. All rights reserved.
Rafique, Sara A; Northway, Nadia
Ocular accommodation provides a well-focussed image, feedback for accurate eye movement control, and cues for depth perception. To accurately perform visually guided motor tasks, integration of ocular motor systems is essential. Children with motor coordination impairment are established to be at higher risk of accommodation anomalies. The aim of the present study was to examine the relationship between ocular accommodation and motor tasks, which are often overlooked, in order to better understand the problems experienced by children with motor coordination impairment. Visual function, gross and fine motor skills were assessed in children with developmental coordination disorder (DCD) and typically developing control children. Children with DCD had significantly poorer accommodation facility and amplitude dynamics compared to controls. Results indicate a relationship between impaired accommodation and motor skills. Specifically, accommodation anomalies correlated with visual motor, upper limb and fine dexterity task performance. Consequently, we argue accommodation anomalies influence the ineffective coordination of action and perception in DCD. Furthermore, reading disabilities were related to poorer motor performance. We postulate the role of the fastigial nucleus as a common pathway for accommodation and motor deficits. Implications of the findings and recommended visual screening protocols are discussed. Copyright © 2015 Elsevier B.V. All rights reserved.
Evans, Julia L; Gillam, Ronald B; Montgomery, James W
This study examined the influence of cognitive factors on spoken word recognition in children with developmental language disorder (DLD) and typically developing (TD) children. Participants included 234 children (aged 7;0-11;11 years;months), 117 with DLD and 117 TD children, propensity matched for age, gender, socioeconomic status, and maternal education. Children completed a series of standardized assessment measures, a forward gating task, a rapid automatic naming task, and a series of tasks designed to examine cognitive factors hypothesized to influence spoken word recognition including phonological working memory, updating, attention shifting, and interference inhibition. Spoken word recognition for both initial and final accept gate points did not differ for children with DLD and TD controls after controlling target word knowledge in both groups. The 2 groups also did not differ on measures of updating, attention switching, and interference inhibition. Despite the lack of difference on these measures, for children with DLD, attention shifting and interference inhibition were significant predictors of spoken word recognition, whereas updating and receptive vocabulary were significant predictors of speed of spoken word recognition for the children in the TD group. Contrary to expectations, after controlling for target word knowledge, spoken word recognition did not differ for children with DLD and TD controls; however, the cognitive processing factors that influenced children's ability to recognize the target word in a stream of speech differed qualitatively for children with and without DLDs.
Cynthia Yukiko Hiraga
Full Text Available DOI: http://dx.doi.org/10.5007/1980-0037.2014v16n2p182 Changes in body mass index (BMI due to various factors, such as a low level of physical activity, are often associated with poor physical fitness in children with prob-able developmental coordination disorder (pDCD. This study examined whether children with pDCD would show poorer performance in terms of physical fitness when compared with their typically developing (TD peers. Thirty two children with pDCD and normal BMI and other 32 children with TD and normal BMI, matched by gender, age and BMI, performed the sit and reach, standing long jump, curl-up, modified pull-up and 9-min run tests. The children in the pDCD group showed lower explosive power, muscle strength and endurance, and cardiorespiratory fitness than children in the TD group. Overall, children with pDCD had lower levels of physical fitness, even with normal BMI.
Sangster Jokić, Claire A; Whitebread, David
Children with developmental coordination disorder (DCD) experience difficulty learning and performing everyday motor tasks due to poor motor coordination. Recent research applying a cognitive learning paradigm has argued that children with DCD have less effective cognitive and metacognitive skills with which to effectively acquire motor skills. However, there is currently limited research examining individual differences in children's use of self-regulatory and metacognitive skill during motor learning. This exploratory study aimed to compare the self-regulatory performance of children with and without DCD. Using a mixed methods approach, this study observed and compared the self-regulatory behavior of 15 children with and without DCD, aged between 7 and 9 years, during socially mediated motor practice. Observation was conducted using a quantitative coding scheme and qualitative analysis of video-recorded sessions. This paper will focus on the results of quantitative analysis, while data arising from the qualitative analysis will be used to support quantitative findings. In general, findings indicate that children with DCD exhibit less independent and more ineffective self-regulatory skill during motor learning than their typically developing peers. In addition, children with DCD rely more heavily on external support for effective regulation and are more likely to exhibit negative patterns of motivational regulation. These findings provide further support for the notion that children with DCD experience difficulty effectively self-regulating motor learning. Implications for practice and directions for future research are discussed.
Leong, Victoria; Schilbach, Leonhard
Social interactions are fundamental for human development, and disordered social interactions are pervasive in many psychiatric disorders. Recent advances in “two-person neuroscience” have provided new tools for characterising social interactions. Accordingly, interaction-based ‘sociometrics’ hold great promise for developmental psychology and psychiatry, particularly in the early identification of social disorders.
Nobusako, Satoshi; Sakai, Ayami; Tsujimoto, Taeko; Shuto, Takashi; Nishi, Yuki; Asano, Daiki; Furukawa, Emi; Zama, Takuro; Osumi, Michihiro; Shimada, Sotaro; Morioka, Shu; Nakai, Akio
The neurological basis of developmental coordination disorder (DCD) is thought to be deficits in the internal model and mirror-neuron system (MNS) in the parietal lobe and cerebellum. However, it is not clear if the visuo-motor temporal integration in the internal model and automatic-imitation function in the MNS differs between children with DCD and those with typical development (TD). The current study aimed to investigate these differences. Using the manual dexterity test of the Movement Assessment Battery for Children (second edition), the participants were either assigned to the probable DCD (pDCD) group or TD group. The former was comprised of 29 children with clumsy manual dexterity, while the latter consisted of 42 children with normal manual dexterity. Visuo-motor temporal integration ability and automatic-imitation function were measured using the delayed visual feedback detection task and motor interference task, respectively. Further, the current study investigated whether autism-spectrum disorder (ASD) traits, attention-deficit hyperactivity disorder (ADHD) traits, and depressive symptoms differed among the two groups, since these symptoms are frequent comorbidities of DCD. In addition, correlation and multiple regression analyses were performed to extract factors affecting clumsy manual dexterity. In the results, the delay-detection threshold (DDT) and steepness of the delay-detection probability curve, which indicated visuo-motor temporal integration ability, were significantly prolonged and decreased, respectively, in children with pDCD. The interference effect, which indicated automatic-imitation function, was also significantly reduced in this group. These results highlighted that children with clumsy manual dexterity have deficits in visuo-motor temporal integration and automatic-imitation function. There was a significant correlation between manual dexterity, and measures of visuo-motor temporal integration, and ASD traits and ADHD traits and
Blomquist, Kerstin K.; Milsom, Vanessa A.; Barnes, Rachel D.; Boeka, Abbe G.; White, Marney A.; Masheb, Robin M.; Grilo, Carlos M.
The metabolic syndrome (MetSyn), characterized by vascular symptoms, is strongly correlated with obesity, weight-related medical diseases and mortality, and has increased commensurately with secular increases in obesity in the U.S. Little is known about the distribution of MetSynin obese patients with binge eating disorder (BED) or its associations with different developmental trajectories of dieting, binge eating, and obesity problems. Further, inconsistencies in the limited data necessitate...
Mirzaa, Ghayda; Timms, Andrew E.; Conti, Valerio; Boyle, Evan August; Girisha, Katta M.; Martin, Beth; Kircher, Martin; Olds, Carissa; Juusola, Jane; Collins, Sarah; Park, Kaylee; Carter, Melissa; Glass, Ian; Kr?geloh-Mann, Inge; Chitayat, David
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identifie...
Abstract Interstitial deletions of the long arm of chromosome 6 are rare, and most of the reported cases represent large, cytogenetically detectable deletions. The implementation of array-CGH in the diagnostic work-up of patients presenting with congenital disorders including developmental delay has enabled the identification of many patients with smaller chromosomal imbalances. Here we present 4 patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a c...
Zuckerman, Katharine E.; Lindly, Olivia J.; Sinche, Brianna
This study aimed to assess variation in parent beliefs about causes of learning and developmental problems in U.S. children with autism spectrum disorder, using data from a nationally representative survey. Results showed that beliefs about a genetic/hereditary cause of learning/developmental problems were most common, but nearly as many parents…
Humphreys, Betsy P.
Universal developmental screening during pediatric well child care detects early delays in development and is a critical gateway to early intervention for young children at risk for Autism Spectrum Disorders (ASD). Developmental screening practices are highly variable, and few studies have examined screening utilization for children at risk for…
Verheij, C.; Louwerse, A.; van der Ende, J.; Eussen, M. L. J. M.; Van Gool, A. R.; Verheij, F.; Verhulst, F. C.; Greaves-Lord, K.
The current study was a 7-year follow-up of 74 6-12 year old children with Pervasive Developmental Disorder-Not Otherwise Specified. We examined the rates and 7 year stability of comorbid psychiatric diagnoses as ascertained with the Diagnostic Interview Schedule for Children: Parent version at ages 6-12 and again at ages 12-20. Also, we examined…
Pingault, Jean-Baptiste; Viding, Essi; Galéra, Cédric; Greven, Corina U; Zheng, Yao; Plomin, Robert; Rijsdijk, Frühling
Attention-deficit/hyperactivity disorder (ADHD) is conceptualized as a neurodevelopmental disorder that is strongly heritable. However, to our knowledge, no study to date has examined the genetic and environmental influences explaining interindividual differences in the developmental course of ADHD symptoms from childhood to adolescence (ie, systematic decreases or increases with age). The reason ADHD symptoms persist in some children but decline in others is an important concern, with implications for prognosis and interventions. To assess the proportional impact of genes and the environment on interindividual differences in the developmental course of ADHD symptom domains of hyperactivity/impulsivity and inattention between ages 8 and 16 years. A prospective sample of 8395 twin pairs from the Twins Early Development Study, recruited from population records of births in England and Wales between January 1, 1994, and December 31, 1996. Data collection at age 8 years took place between November 2002 and November 2004; data collection at age 16 years took place between February 2011 and January 2013. Both DSM-IV ADHD symptom subscales were rated 4 times by participants' mothers. Estimates from latent growth curve models indicated that the developmental course of hyperactivity/impulsivity symptoms followed a sharp linear decrease (mean score of 6.0 at age 8 years to 2.9 at age 16 years). Interindividual differences in the linear change in hyperactivity/impulsivity were under strong additive genetic influences (81%; 95% CI, 73%-88%). More than half of the genetic variation was specific to the developmental course and not shared with the baseline level of hyperactivity/impulsivity. The linear decrease in inattention symptoms was less pronounced (mean score of 5.8 at age 8 years to 4.9 at age 16 years). Nonadditive genetic influences accounted for a substantial amount of variation in the developmental course of inattention symptoms (54%; 95% CI, 8%-76%), with more than
Bishop, Dorothy V.M.
Background It has been suggested that failure to establish cerebral lateralisation may be related to developmental language disorder (DLD). There has been weak support for any link with handedness, but more consistent reports of associations with functional brain lateralisation for language. The consistency of lateralisation across different functions may also be important. We aimed to replicate previous findings of an association between DLD and reduced laterality on a quantitative measure of hand preference (reaching across the midline) and on language laterality assessed using functional transcranial Doppler ultrasound (fTCD). Methods From a sample of twin children aged from 6;0 to 11;11 years, we identified 107 cases of DLD and 156 typically-developing comparison cases for whom we had useable data from fTCD yielding a laterality index (LI) for language function during an animation description task. Handedness data were also available for these children. Results Indices of handedness and language laterality for this twin sample were similar to those previously reported for single-born children. There were no differences between the DLD and TD groups on measures of handedness or language lateralisation, or on a categorical measure of consistency of left hemisphere dominance. Contrary to prediction, there was a greater incidence of right lateralisation for language in the TD group (19.90%) than the DLD group (9.30%), confirming that atypical laterality is not inconsistent with typical language development. We also failed to replicate associations between language laterality and language test scores. Discussion and Conclusions Given the large sample studied here and the range of measures, we suggest that previous reports of atypical manual or language lateralisation in DLD may have been false positives. PMID:29333343
Hashem, Atef A
PURPOSE: This study was carried out to determine the prevalence, severity and pattern of hypodontia in Irish patients referred to a tertiary care clinic for developmental dental disorders. MATERIALS AND METHODS: Details of 168 patients with hypodontia referred during the period 2002-2006 were entered in a database designed as a national record. Tooth charting was completed using clinical and radiographic examinations. The age of patients ranged from 7-50 years, with a median age of 20 years (Mean: 21.79; SD: 8.005). RESULTS: Hypodontia referrals constituted 65.5% of the total referrals. Females were more commonly affected than males with a ratio of 1.3:1. The number of referrals reflected the population density in this area; the majority were referrals from the public dental service. Mandibular second premolars were the most commonly missing teeth, followed by maxillary second premolars and maxillary lateral incisors; maxillary central incisors were the least affected. Symmetry of tooth agenesis between the right and left sides was an evident feature. Slightly more teeth were missing on the left side (n = 725) than on the right side (n = 706) and in the maxillary arch (n = 768) as compared to the mandibular arch (n = 663). Some 54% of patients had severe hypodontia with more than six teeth missing; 32% had moderate hypodontia, with four to six teeth missing. The most common pattern of tooth agenesis was four missing teeth. CONCLUSION: Hypodontia was a common presentation in a population referred to this tertiary care clinic. The pattern and distribution of tooth agenesis in Irish patients appears to follow the patterns reported in the literature.
Lingam, R P; Novak, C; Emond, A; Coad, J E
The aim of the current study was to gain an understanding of the experiences and aspirations of young people living with Developmental Coordination Disorder (DCD) in their own words. Eleven young people aged 11-16 years with a prior diagnosis of DCD were identified from child health records of two participating NHS trusts. The sample included seven boys and four girls, from different socio-economic backgrounds living in different parts of one large urban area in England. In depth one-to-one semi-structured interviews and subsequent follow-up small group interviews were carried out with the young people. Interviews were enhanced using participatory arts-based techniques. All interviews were recorded verbatim and transcribed. Narrative data were analysed using Lindseth's interpretive phenomenology. The central theme of 'We're all different' described how the young person saw themselves and encompassed the formation of identity. Subthemes illustrated the attitude of the young people to their day to day lives, their difficulties and strategies used by the young people to overcome these difficulties in school and at home. The attitude of the school to difference, the presence of bullying, the accepting nature of the class, teachers and peers were vitally important. Areas of life that encouraged a positive sense of identity and worth included being part of a social network that gave the young people a sense of belonging, potentially one that valued differences as well as similarities. The current work highlights the need for services to adopt a model of DCD where the young person talks about what they can do and considers strategies of overcoming their difficulties. This has implications for education and future intervention strategies that focus on fostering psychological resilience and educational coping strategies rather than simply attempting to improve motor skills. © 2013 John Wiley & Sons Ltd.
Rosenblum, Sara; Waissman, Pola; Diamond, Gary W
Motor coordination deficits that characterize children with Developmental Coordination Disorder (DCD) affect their quality of participation. The aim of the current study was to identify play characteristics of young children with DCD, compared to those of children with typical development in three dimensions: activity and participation, environmental factors and children's impairments. Sixty-four children, aged four to six years, participated. Thirty were diagnosed as having DCD; the remaining 34 children were age, gender and socioeconomic level matched controls with typical development. The children were evaluated by the M-ABC. In addition, their parents completed a demographic questionnaire, the Children's Activity Scale for Parents (CHAS-P), the Children's Leisure Assessment Scale for preschoolers (CLASS-Pre), and My Child's Play Questionnaire (MCP). Children with DCD performed significantly poorer in each of the four play activity and participation domains: variety, frequency, sociability, and preference (CLASS-Pre). Furthermore, their environmental characteristics were significantly different (MCP). They displayed significantly inferior performance (impairments) in interpersonal interaction and executive functioning during play, in comparison to controls (MCP). Moreover, the children's motor and executive control as reflected in their daily function as well as their activities of daily living (ADL) performance level, contributed to the prediction of their global play participation. The results indicate that the use of both the CLASS-Pre and the MCP questionnaires enables the identification of unique play characteristics of pre-school children with DCD via parents' reports. A better insight into these characteristics may contribute to theoretical knowledge and clinical practice to improve the children's daily participation. Copyright © 2016 Elsevier B.V. All rights reserved.
Alexander C. Wilson
Full Text Available Background It has been suggested that failure to establish cerebral lateralisation may be related to developmental language disorder (DLD. There has been weak support for any link with handedness, but more consistent reports of associations with functional brain lateralisation for language. The consistency of lateralisation across different functions may also be important. We aimed to replicate previous findings of an association between DLD and reduced laterality on a quantitative measure of hand preference (reaching across the midline and on language laterality assessed using functional transcranial Doppler ultrasound (fTCD. Methods From a sample of twin children aged from 6;0 to 11;11 years, we identified 107 cases of DLD and 156 typically-developing comparison cases for whom we had useable data from fTCD yielding a laterality index (LI for language function during an animation description task. Handedness data were also available for these children. Results Indices of handedness and language laterality for this twin sample were similar to those previously reported for single-born children. There were no differences between the DLD and TD groups on measures of handedness or language lateralisation, or on a categorical measure of consistency of left hemisphere dominance. Contrary to prediction, there was a greater incidence of right lateralisation for language in the TD group (19.90% than the DLD group (9.30%, confirming that atypical laterality is not inconsistent with typical language development. We also failed to replicate associations between language laterality and language test scores. Discussion and Conclusions Given the large sample studied here and the range of measures, we suggest that previous reports of atypical manual or language lateralisation in DLD may have been false positives.
Yu, Jie; Sit, Cindy H P; Capio, Catherine M; Burnett, Angus; Ha, Amy S C; Huang, Wendy Y J
The purpose of this study was to (1) examine differences in fundamental movement skills (FMS) proficiency, physical self-concept, and physical activity in children with and without developmental coordination disorder (DCD), and (2) determine the association of FMS proficiency with physical self-concept while considering key confounding factors. Participants included 43 children with DCD and 87 age-matched typically developing (TD) children. FMS proficiency was assessed using the Test of Gross Motor Development - second edition. Physical self-concept and physical activity were assessed using self-report questionnaires. A two-way (group by gender) ANCOVA was used to determine whether between-group differences existed in FMS proficiency, physical self-concept, and physical activity after controlling for age and BMI. Partial correlations and hierarchical multiple regression models were used to examine the relationship between FMS proficiency and physical self-concept. Compared with their TD peers, children with DCD displayed less proficiency in various components of FMS and viewed themselves as being less competent in physical coordination, sporting ability, and physical health. Physical coordination was a significant predictor of ability in object control skills. DCD status and gender were significant predictors of FMS proficiency. Future FMS interventions should target children with DCD and girls, and should emphasize improving object control skills proficiency and physical coordination. Children with DCD tend to have not only lower FMS proficiency than age-matched typically developing children but also lower physical self-concept. Self-perceptions of physical coordination by children with DCD are likely to be valuable contributors to development of object control skills. This may then help to develop their confidence in performing motor skills. Children with DCD need supportive programs that facilitate the development of object control skills. Efficacy of training
Children with Developmental Coordination Disorders (DCD) exhibit deficient daily performance concealed in their perception-action mechanism. The aim of this study was to analyze behavior organization of children with DCD, in varied tasks that require generating and monitoring mental representations related to space and time inputs/requirements, for achieving better insight about their perception-action mechanism. Participants included 42 children aged 7-10, half of whom were defined with DCD and half were typically developing (TD). The children were matched for age, gender and school. They were evaluated using the Movement-ABC and performed three handwriting tasks on an electronic tablet that is part of a computerized system (ComPET - Computerized Penmanship Evaluation Tool). In addition, their teachers completed the Questionnaire for Assessing Students' Organizational Abilities-Teachers (QASOA-T) to assess the children's daily organizational ability. Significant group differences (DCD versus controls) were found for all handwriting kinematic measures across the three handwriting tasks and for the children's organizational abilities. Motor ability predicted a considerable percentage of the variance of the kinematic handwriting measures (30-37%), as well as a high percentage of the variance of their organizational abilities (67%). The coefficient of variance of the pen tilt added an additional 3% to the prediction of their organizational abilities. The results of this study exhibited deficient ability among children with DCD in organizing their behavior in varied real-world tasks requiring generation and monitoring representation related to space and time. The significance of the results to understanding the performance mechanism and implication to the clinical field are discussed. Copyright © 2015 Elsevier B.V. All rights reserved.
O'Hare, Anne; Khalid, Shabana
Children with developmental coordination disorder/dyspraxia (DCD) are at high risk of reading and writing delay. The difficulties with motor skills are heterogeneous and many children have features of poor cerebellar function, reflected in problems with posture, balance and fast accurate control of movement. This study confirmed a high level of parental reporting of reading and writing delay in a clinical group of 23 children with DCD, defined on the basis of both clinical examination and standardized testing of motor function. Direct measurement of reading delay, identified still further children in the group. Those children with reading delay had associated findings typical of phonological awareness difficulties. The children also underwent a standardized test of neurological function and although they all had difficulties with cerebellar function, no distinctive pattern emerged for those whose presentation was complicated by delayed reading and writing. Both the children with DCD and 136 typically developing children, completed the pilot parental questionnaire on gross motor skills. The three skills of catching a ball, jumping on a moving playground roundabout and handwriting, distinguished the children with DCD. This study therefore confirms that children with DCD should be assessed for difficulties in phonological awareness. Additionally, children aged between 7 and 12 years are on the whole, highly competent in a range of gross motor skills and further study might determine whether a simple parental questionnaire might detect children who would benefit from further assessment. The study also suggests that all the children with DCD have cerebellar dysfunction and further work with a larger group might determine particular patterns associated with reading delay.
Zhu, Yi-Ching; Cairney, John; Li, Yao-Chuen; Chen, Wei-Ying; Chen, Fu-Chen; Wu, Sheng K
The purpose of this study was to compare the prevalence of overweight and obesity in typically developing (TD) children, children with developmental coordination disorder (DCD) and balance problems (DCD-BP), and children with DCD without balance problems (DCD-NBP). Two thousand and fifty-seven children (1095 boys, 962 girls) ages 9-12 years were recruited from 18 elementary schools in Taiwan. The Movement Assessment Battery for Children was used to assess motor coordination ability. International cut-off points for body mass index were used to classify participants into the following groups: normal-weight, overweight or obese. Compared with TD children, children in the DCD-BP group were more than twice as likely to be obese (OR=2.28; 95% CI=1.41-3.68). DCD-BP children were also more likely to be obese compared to DCD-NBP children (OR=1.79; 95% CI=1.02-3.16). Boys in the DCD-BP group were more likely to be obese when compared to DCD-BP girls (OR=3.12; 95% CI=1.28-7.57). Similarly, DCD-NBP boys were more likely to be obese when compared to DCD-NBP girls (OR=2.67; 95% CI=1.21-5.89). Children with both DCD and BP were significantly more likely to be obese when compared to TD and DCD-NBP children. From an intervention perspective, the inclusion of regular physical activity, including activities that encourage development of both balance and energy expenditure, may be required to prevent obesity in this population. Copyright © 2014 Elsevier Ltd. All rights reserved.
Lee, Joanna C
Two reasons may explain the discrepant findings regarding declarative memory in developmental language disorder (DLD) in the literature. First, standardized tests are one of the primary tools used to assess declarative memory in previous studies. It is possible they are not sensitive enough to subtle memory impairment. Second, the system underlying declarative memory is complex, and thus results may vary depending on the types of encoding and retrieval processes measured (e.g., item specific or relational) and/or task demands (e.g., recall or recognition during memory retrieval). To adopt an experimental paradigm to examine episodic memory functioning in adolescents with and without DLD, with the focus on memory recognition of item-specific and relational information. Two groups of adolescents, one with DLD (n = 23; mean age = 16.73 years) and the other without (n = 23; mean age = 16.75 years), participated in the study. The Relational and Item-Specific Encoding (RISE) paradigm was used to assess the effect of different encoding processes on episodic memory retrieval in DLD. The advantage of using the RISE task is that both item-specific and relational encoding/retrieval can be examined within the same learning paradigm. Adolescents with DLD and those with typical language development showed comparable engagement during the encoding phase. The DLD group showed significantly poorer item recognition than the comparison group. Associative recognition was not significantly different between the two groups; however, there was a non-significant trend for to be poorer in the DLD group than in the comparison group, suggesting a possible impairment in associative recognition in individuals with DLD, but to a lesser magnitude. These results indicate that adolescents with DLD have difficulty with episodic memory retrieval when stimuli are encoded and retrieved without support from contextual information. Associative recognition is relatively less affected than item
Gonsalves, Leandra; Campbell, Amity; Jensen, Lynn; Straker, Leon
Active virtual reality gaming (AVG) may be useful for children with developmental coordination disorder (DCD) to practice motor skills if their movement patterns are of good quality while engaged in AVG. This study aimed to examine: (1) the quality of motor patterns of children with DCD participating in AVG by comparing them with children with typical development (TD) and (2) whether differences existed in the motor patterns utilized with 2 AVG types: Sony PlayStation 3 Move and Microsoft Xbox 360 Kinect. This was a quasi-experimental, biomechanical laboratory-based study. Twenty-one children with DCD, aged 10 to 12 years, and 19 age- and sex-matched children with TD played a match of table tennis on each AVG type. Hand path, wrist angle, and elbow angle were recorded using a motion analysis system. Linear mixed-model analyses were used to determine differences between DCD and TD groups and Move and Kinect AVG type for forehands and backhands. Children with DCD utilized a slower hand path speed (backhand mean difference [MD]=1.20 m/s; 95% confidence interval [95% CI]=0.41, 1.98); greater wrist extension (forehand MD=34.3°; 95% CI=22.6, 47.0); and greater elbow flexion (forehand MD=22.3°; 95% CI=7.4, 37.1) compared with children with TD when engaged in AVG. There also were differences in movement patterns utilized between AVG types. Only simple kinematic measures were compared, and no data regarding movement outcome were assessed. If a therapeutic treatment goal is to promote movement quality in children with DCD, clinical judgment is required to select the most appropriate AVG type and determine whether movement quality is adequate for unsupervised practice. © 2015 American Physical Therapy Association.
Schreibman, Laura; Dawson, Geraldine; Stahmer, Aubyn C.; Landa, Rebecca; Rogers, Sally J.; McGee, Gail G.; Kasari, Connie; Ingersoll, Brooke; Kaiser, Ann P.; Bruinsma, Yvonne; McNerney, Erin; Wetherby, Amy; Halladay, Alycia
Earlier autism diagnosis, the importance of early intervention, and development of specific interventions for young children have contributed to the emergence of similar, empirically supported, autism interventions that represent the merging of applied behavioral and developmental sciences. "Naturalistic Developmental Behavioral Interventions…
Conti-Ramsden, Gina; Durkin, Kevin; Toseeb, Umar; Botting, Nicola; Pickles, Andrew
Developmental language disorder (DLD) presents a considerable barrier for young adults to engage in further education and training. Early studies with young adults with DLD revealed poor educational achievement and lack of opportunities to progress in education. More recent studies have provided more positive findings. Relatively sparse data exist, however, on current cohorts and the factors that predict outcomes. To examine educational and employment outcomes in young adulthood in a sample of people with histories of DLD compared with an age-matched peer group without DLD. We ask: How do educational pathways and early jobs compare between those with and without DLD? Are young adults with DLD receiving similar levels of income as their peers? To what extent are language and literacy abilities associated with outcomes? Participants included 84 individuals with DLD (67% males) and 88 age-matched peers without DLD (56% males). Participants were on average 24 years of age. They completed a battery of psycholinguistic, literacy and nonverbal skills assessments. Data were also collected on educational qualifications, current educational status, extent of educational support received, employment status, history and support, as well as current income. Those with DLD obtained lower academic and vocational qualifications. Higher educational/vocational qualifications were associated with better language, better reading and higher performance IQ (PIQ). There were few differences between the two groups in terms of engagement with education, but the mean age at leaving education was significantly earlier in the participants with DLD. Substantially more participants with DLD reported receiving support or dispensation from their educational institution. There was no significant difference between groups in the proportion of young people currently employed, though a higher proportion of the age-matched peers was in work full time. Participants with DLD were much more likely to be
Pearl, Phillip L.; Pettiford, Jennifer M.; Combs, Susan E.; Heffron, Ari; Healton, Sean; Hovaguimian, Alexandra; Macri, Charles J.
The pace of discovery in biochemistry and genetics and its effect on clinical medicine places new curricular challenges in medical school education. We sought to evaluate students' understanding of neurogenetics and its clinical applications to design a pilot curriculum into the clinical neurology clerkship. We utilized a needs assessment and a…
Reilly, C.; Senior, J.; Murtagh, L.
Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…
Ye, Guozhu; Chen, Yajie; Wang, Hong-Ou; Ye, Ting; Lin, Yi; Huang, Qiansheng; Chi, Yulang; Dong, Sijun
Tetrabromobisphenol A and tetrachlorobisphenol A are halogenated bisphenol A (H-BPA), and has raised concerns about their adverse effects on the development of fetuses and infants, however, the molecular mechanisms are unclear, and related metabolomics studies are limited. Accordingly, a metabolomics study based on gas chromatography-mass spectrometry was employed to elucidate the molecular developmental toxicology of H-BPA using the marine medaka (Oryzias melastigmas) embryo model. Here, we revealed decreased synthesis of nucleosides, amino acids and lipids, and disruptions in the TCA (tricarboxylic acid) cycle, glycolysis and lipid metabolism, thus inhibiting the developmental processes of embryos exposed to H-BPA. Unexpectedly, we observed enhanced neural activity accompanied by lactate accumulation and accelerated heart rates due to an increase in dopamine pathway and a decrease in inhibitory neurotransmitters following H-BPA exposure. Notably, disorders of the neural system, and disruptions in glycolysis, the TCA cycle, nucleoside metabolism, lipid metabolism, glutamate and aspartate metabolism induced by H-BPA exposure were heritable. Furthermore, lactate and dopa were identified as potential biomarkers of the developmental toxicity of H-BPA and related genetic effects. This study has demonstrated that the metabolomics approach is a useful tool for obtaining comprehensive and novel insights into the molecular developmental toxicity of environmental pollutants.
Biscaldi, Monica; Rauh, Reinhold; Irion, Lisa; Jung, Nikolai H; Mall, Volker; Fleischhaker, Christian; Klein, Christoph
The co-occurrence of motor and imitation disabilities often characterises the spectrum of deficits seen in patients with autism spectrum disorders (ASD). Whether these seemingly separate deficits are inter-related and whether, in particular, motor deficits contribute to the expression of imitation deficits is the topic of the present study and was investigated by comparing these deficits' cross-sectional developmental trajectories. To that end, different components of motor performance assessed in the Zurich Neuromotor Assessment and imitation abilities for facial movements and non-meaningful gestures were tested in 70 subjects (aged 6-29 years), including 36 patients with high-functioning ASD and 34 age-matched typically developed (TD) participants. The results show robust deficits in probands with ASD in timed motor performance and in the quality of movement, which are all independent of age, with one exception. Only diadochokinesis improves moderately with increasing age in ASD probands. Imitation of facial movements and of non-meaningful hand, finger, hand finger gestures not related to social context or tool use is also impaired in ASD subjects, but in contrast to motor performance this deficit overall improves with age. A general imitation factor, extracted from the highly inter-correlated imitation tests, is differentially correlated with components of neuromotor performance in ASD and TD participants. By developmentally fractionating developmentally stable motor deficits from developmentally dynamic imitation deficits, we infer that imitation deficits are primarily cognitive in nature.
Lauren J. Rice
Full Text Available In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS and autism spectrum disorder (ASD. The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description of the behaviour phenotype, that is, which types and natural history of self-injurious behaviour are more common in PWS and ASD and which are shared with other forms of developmental disability. Self-injury displayed by individuals with PWS and individuals with ASD was compared with that reported in a group of individuals with intellectual disability due to mixed aetiology (ID group. Three self-injurious behaviours (head banging, skin-picking and hitting and/or biting self were measured on five occasions over 18 years using the Developmental Behaviour Checklist (DBC a well-validated caregiver report measure. Rates of skin picking were higher in individuals with PWS and hitting and/or biting self was higher in individuals with ASD compared to the ID group. Rates of head banging were similar across the three groups. Over time, skin-picking and head banging increased with age for individuals with ASD and hitting and/or biting self increased for the PWS group. In the PWS and mixed ID groups head banging decreased with age. These findings suggest that the typology and developmental trajectories of self-injurious behaviours differ between those with PWS and ASD.
Fowler, Patrick J; Henry, David B; Schoeny, Michael; Gorman-Smith, Deborah; Tolan, Patrick H
This study examined whether a family-based preventive intervention for inner-city children entering the first grade could alter the developmental course of attention-deficit/hyperactivity disorder (ADHD) symptoms. Participants were 424 families randomly selected and randomly assigned to a control condition (n = 192) or Schools and Families Educating Children (SAFE) Children (n = 232). SAFE Children combined family-focused prevention with academic tutoring to address multiple developmental-ecological needs. A booster intervention provided in the 4th grade to randomly assigned children in the initial intervention (n =101) evaluated the potential of increasing preventive effects. Follow-up occurred over 5 years with parents and teachers reporting on attention problems. Growth mixture models identified multiple developmental trajectories of ADHD symptoms. The initial phase of intervention placed children on more positive developmental trajectories for impulsivity and hyperactivity, demonstrating the potential for ADHD prevention in at-risk youth, but the SAFE Children booster had no additional effect on trajectory or change in ADHD indicators.
Van Esch, Hilde; Rosser, Elisabeth M; Janssens, Sandra; Van Ingelghem, Ingrid; Loeys, Bart; Menten, Bjorn
Interstitial deletions of the long arm of chromosome 6 are rare, and most reported cases represent large, cytogenetically detectable deletions. The implementation of array comparative genome hybridisation in the diagnostic work-up of patients presenting with congenital disorders, including developmental delay, has enabled identification of many patients with smaller chromosomal imbalances. In this report, the cases are presented of four patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a common microdeletion of 3.7 Mb. All presented with developmental delay, mild dysmorphism and signs of lax connective tissue. Interestingly, the common deleted region harbours 16 genes, of which COL12A1 is a good candidate for the connective tissue pathology.
Verwilghen, Denis; Janssens, S; Busoni, V
REASONS FOR PERFORMING THE STUDY: Few reports are available on the relationship between developmental orthopaedic diseases (DOD) and future performances in Warmblood horses. OBJECTIVES: To investigate the relationship between performance and the presence of DOD lesions. METHODS: Records of Warmbl...
R. Christopher Sheldrick
Full Text Available Abstract Background Clinical decision-making has been conceptualized as a sequence of two separate processes: assessment of patients’ functioning and application of a decision threshold to determine whether the evidence is sufficient to justify a given decision. A range of factors, including use of evidence-based screening instruments, has the potential to influence either or both processes. However, implementation studies seldom specify or assess the mechanism by which screening is hypothesized to influence clinical decision-making, thus limiting their ability to address unexpected findings regarding clinicians’ behavior. Building on prior theory and empirical evidence, we created a system dynamics (SD model of how physicians’ clinical decisions are influenced by their assessments of patients and by factors that may influence decision thresholds, such as knowledge of past patient outcomes. Using developmental-behavioral disorders as a case example, we then explore how referral decisions may be influenced by changes in context. Specifically, we compare predictions from the SD model to published implementation trials of evidence-based screening to understand physicians’ management of positive screening results and changes in referral rates. We also conduct virtual experiments regarding the influence of a variety of interventions that may influence physicians’ thresholds, including improved access to co-located mental health care and improved feedback systems regarding patient outcomes. Results Results of the SD model were consistent with recent implementation trials. For example, the SD model suggests that if screening improves physicians’ accuracy of assessment without also influencing decision thresholds, then a significant proportion of children with positive screens will not be referred and the effect of screening implementation on referral rates will be modest—results that are consistent with a large proportion of published
Gaines, Robin; Missiuna, Cheryl; Egan, Mary; McLean, Jennifer
Developmental Coordination Disorder (DCD) is a chronic neurodevelopmental condition that affects 5-6% of children. When not recognized and properly managed during the child's development, DCD can lead to academic failure, mental health problems and poor physical fitness. Physicians, working in collaboration with rehabilitation professionals, are in an excellent position to recognize and manage DCD. This study was designed to determine the feasibility and impact of an educational outreach and collaborative care model to improve chronic disease management of children with DCD. The intervention included educational outreach and collaborative care for children with suspected DCD. Physicians were educated by and worked with rehabilitation professionals from February 2005 to April 2006. Mixed methods evaluation approach documented the process and impact of the intervention. Physicians: 750 primary care physicians from one major urban area and outlying regions were invited to participate; 147 physicians enrolled in the project. Children: 125 children were identified and referred with suspected DCD. The main outcome was improvement in knowledge and perceived skill of physicians concerning their ability to screen, diagnose and manage DCD. At baseline 91.1% of physicians were unaware of the diagnosis of DCD, and only 1.6% could diagnose condition. Post-intervention, 91% of participating physicians reported greater knowledge about DCD and 29.2% were able to diagnose DCD compared to 0.5% of non-participating physicians. 100% of physicians who participated in collaborative care indicated they would continue to use the project materials and resources and 59.4% reported they would recommend or share the materials with medical colleagues. In addition, 17.6% of physicians not formally enrolled in the project reported an increase in knowledge of DCD. Physicians receiving educational outreach visits significantly improved their knowledge about DCD and their ability to identify and
Francisco B. Assumpção Jr.
Full Text Available OBJETIVO: Avaliar o reconhecimento olfativo nos transtornos invasivos do desenvolvimento (TID. MÉTODO: Vinte e um adolescentes do sexo masculino com TID (grupo experimental e 21 controles pareados (grupo controle foram submetidos a um teste olfativo padronizado, consistindo em doze estímulos, em três momentos distintos: sem nenhuma sugestão quanto à identificação; associados a quatro alternativas lingüísticas para cada estímulo; e reapresentados, 25 dias após, sem alternativas lingüísticas. Avaliaram-se os resultados obtidos através de teste t e análise de variância (p=0,05. RESULTADOS: O grupo experimental apresentou pior desempenho que o controle. Em ambos os grupos, os acertos aumentaram após estímulo e, após 25 dias, os acertos diminuíram, mas mantiveram um nível maior que aquele observado ao momento inicial, sem estímulo (pAIM: To evaluate smell recognition in pervasive developmental disorders (PDD. METHOD: Twenty-one PDD (experimental group and 21 matched controls (control group male adolescents were submitted to a standardized, 12-stimuli, smell battery in three moments: with no identification suggestion; associated to four linguistic alternatives for each stimulus, and submitted again, 25 days after, with no linguistic alternatives. Data was analyzed by t test and variance analysis (p=0,05. RESULTS: The experimental group scored worse than control group. Both groups scored better after stimuli and, after 25 days, scores lowered, but stayed higher than initially, without any stimuli (p<0,001. The gap was higher after 25 days, when the experimental group showed poorer smell memory from initial presentation (p<0,001. CONCLUSION: The experimental group showed lower recognition scores, unrelated to clues previously offered, which suggests a difficulty in phenomena and semantic meaning association. Even after matching odors nomination, the gap of recognition scores remains between groups, not only in a deficitary pattern
Durkin, Kevin; Toseeb, Umar; Botting, Nicola; Pickles, Andrew
Abstract Background Developmental language disorder (DLD) presents a considerable barrier for young adults to engage in further education and training. Early studies with young adults with DLD revealed poor educational achievement and lack of opportunities to progress in education. More recent studies have provided more positive findings. Relatively sparse data exist, however, on current cohorts and the factors that predict outcomes. Aims To examine educational and employment outcomes in young adulthood in a sample of people with histories of DLD compared with an age‐matched peer group without DLD. We ask: How do educational pathways and early jobs compare between those with and without DLD? Are young adults with DLD receiving similar levels of income as their peers? To what extent are language and literacy abilities associated with outcomes? Methods & Procedures Participants included 84 individuals with DLD (67% males) and 88 age‐matched peers without DLD (56% males). Participants were on average 24 years of age. They completed a battery of psycholinguistic, literacy and nonverbal skills assessments. Data were also collected on educational qualifications, current educational status, extent of educational support received, employment status, history and support, as well as current income. Outcomes & Results Those with DLD obtained lower academic and vocational qualifications. Higher educational/vocational qualifications were associated with better language, better reading and higher performance IQ (PIQ). There were few differences between the two groups in terms of engagement with education, but the mean age at leaving education was significantly earlier in the participants with DLD. Substantially more participants with DLD reported receiving support or dispensation from their educational institution. There was no significant difference between groups in the proportion of young people currently employed, though a higher proportion of the age‐matched peers was
Backman, Ellen; Karlsson, Ann-Kristin; Sjögreen, Lotta
Studies on long-term feeding and eating outcomes in children requiring gastrostomy tube feeding (GT) are scarce. The aim of this study was to describe children with developmental or acquired disorders receiving GT and to compare longitudinal eating and feeding outcomes. A secondary aim was to explore healthcare provision related to eating and feeding. This retrospective cohort study reviewed medical records of children in 1 administrative region of Sweden with GT placement between 2005 and 2012. Patient demographics, primary diagnoses, age at GT placement, and professional healthcare contacts prior to and after GT placement were recorded and compared. Feeding and eating outcomes were assessed 4 years after GT placement. The medical records of 51 children, 28 boys and 23 girls, were analyzed and grouped according to "acquired" (n = 13) or "developmental" (n = 38) primary diagnoses. At 4 years after GT placement, 67% were still using GT. Only 6 of 37 (16%) children with developmental disorders transferred to eating all orally, as opposed to 10 of 11 (91%) children with acquired disorders. Children with developmental disorders were younger at the time of GT placement and displayed a longer duration of GT activity when compared with children with acquired disorders. This study demonstrates a clear difference between children with developmental or acquired disorders in duration of GT activity and age at GT placement. The study further shows that healthcare provided to children with GT is in some cases multidisciplinary, but primarily focuses on feeding rather than eating. © 2018 American Society for Parenteral and Enteral Nutrition.
Toh, Teck-Hock; Tan, Vivian Wee-Yen; Lau, Peter Sie-Teck; Kiyu, Andrew
This study determined the accuracy of "Modified Checklist for Autism in Toddlers" ("M-CHAT") in detecting toddlers with autism spectrum disorder (ASD) and other developmental disorders (DD) in community mother and child health clinics. We analysed 19,297 eligible toddlers (15-36 months) who had "M-CHAT" performed in…
van der Linde, B W; van Netten, J J; Otten, E; Postema, K; Geuze, R H; Schoemaker, M M
Children with developmental co-ordination disorder (DCD) face evident motor difficulties in activities of daily living (ADL). Assessment of their capacity in ADL is essential for diagnosis and intervention, in order to limit the daily consequences of the disorder. The aim of this study is to
Full Text Available Aim of the study: The analysis of the types of developmental disorders in early childhood. Material and methods: Seventy-one children at the age from 7 days to 3 years who came to The Early Intervention Centre for Handicapped Children “Give the Chance” at University Children’s Clinical Hospital in Bialystok in 2010 were examined. There were 46 (65% boys and 25 (35% girls in that group. The most common reason for coming to the Centre was the psychomotor retardation – 38 (54% subjects. In the Centre the diagnosis included: developmental interview, psychological, pedagogical and speech-therapy research. The evaluation of the psychomotor development in the psychological investigation was made using the Brunet-Lézine Scale of Psychomotor Development. The opinion on the symptoms of pervasive developmental disorder was based on diagnostic criteria contained in ICD-10. Results: The delayed development of the active speech was diagnosed in 71 (100% subjects. Forty-one (58% patients had psychomotor retardation without the features of the pervasive developmental disorder. Pervasive developmental disorder was diagnosed in 19 (27% subjects. The quotient of the psychomotor development was 77. Therapeutic influences included: psychoeducation – 65 (92% subjects, pedagogical therapy and speech-therapy – 13 (18% subjects, emotional support – 65 (92% subjects, systematic group classes for parents – 10 (14% subjects. Conclusions: 1 The developmental disorder was diagnosed in the majority of the examined children – 41 (58% subjects. 2 Pervasive developmental disorder was diagnosed in 19 (27% subjects, which is in accordance with the worldwide tendency for the growth of the number of diagnosis connected with this disorder (“autism epidemics”.
Full Text Available Introduction & Objective: According to significance of pervasive developmental disorders (PDD in children and the increasing rate of its prevalence in referred patients to clinic in recent years and due to absence of any report about the rate of PPD in our country, this study was carried out. The aim of this study was to determine the prevalence of PPD in a sample of Iranian children who referred to medical and rehabilitation centers.Materials & Methods: 248 children who referred to three medical-rehabilitation centers were participated in the research. Accessible sampling with diagnosis of PDD based on DSM-IV criteria was chosen. The obtained data were analyzed using descriptive statistics methods such as percent and frequency distribution. Results: Autistics disorder was most prevalent among pervasive developmental disorders. In this research Autistic disorder (proportion 4/1 to 1, Asperger disorder (proportion 3 to 1 and childhood disintegrative disease were more prevalent in boys than girls. Ret disorders was observed only in girls and pervasive developmental disease (NOS was seen in both sexes. Conclusion: The results showed that pervasive developmental disorders are 4 times more prevalent in boys than girls and the findings of this research were consistent with those of previous studies.
Franks, Bridget A.
Posttraumatic stress disorder (PTSD) was first included in the American Psychiatric Association's "Diagnostic and statistical manual of mental disorders" in 1980. Long used to describe the reactions of soldiers affected by stress in combat situations, PTSD is now recognised as a disorder affecting abused and neglected infants and…
Schwenck, Christina; Mergenthaler, Julia; Keller, Katharina; Zech, Julie; Salehi, Sarah; Taurines, Regina; Romanos, Marcel; Schecklmann, Martin; Schneider, Wolfgang; Warnke, Andreas; Freitag, Christine M.
Background: A deficit in empathy is discussed to underlie difficulties in social interaction of children with autism spectrum disorder (ASD) and conduct disorder (CD). To date, no study has compared children with ASD and different subtypes of CD to describe disorder-specific empathy profiles in clinical samples. Furthermore, little is known about…
Alzrayer, Nouf M; Banda, Devender R; Koul, Rajinder
Many children with autism spectrum disorders (ASD) and/or developmental disabilities are unable to meet their daily communication needs with speech alone. These individuals are considered potential candidates for speech-generating devices (SGDs) and mobile technologies with AAC-specific applications. The purpose of this study was to determine the effectiveness of systematic instruction on teaching multistep requesting skills using an iPad loaded with Proloquo2Go to children with ASD and other developmental disabilities. The participants in this study were four children between the ages of 8 and 10 years diagnosed with ASD and/or other developmental disabilities. The results indicated that for these participants, the intervention was effective in increasing multistep requesting using the iPad. All participants were successful to varying degrees in navigating across pages and combining symbols to request preferred items. Additionally, the participants demonstrated generalization of newly acquired skills by requesting different preferred items and activities during the generalization probes. Results are discussed and implications for research and practice are presented.
Simone P.W. Haller
Full Text Available Social anxiety disorder represents a debilitating condition that has large adverse effects on the quality of social connections, educational achievement and wellbeing. Age-of-onset data suggests that early adolescence is a developmentally sensitive juncture for the onset of social anxiety. In this review, we highlight the potential of using a developmental cognitive neuroscience approach to understand (i why there are normative increases in social worries in adolescence and (ii how adolescence-associated changes may ‘bring out’ neuro-cognitive risk factors for social anxiety in a subset of individuals during this developmental period. We also speculate on how changes that occur in learning and plasticity may allow for optimal acquisition of more adaptive neurocognitive strategies through external interventions. Hence, for the minority of individuals who require external interventions to target their social fears, this enhanced flexibility could result in more powerful and longer-lasting therapeutic effects. We will review two novel interventions that target information-processing biases and their neural substrates via cognitive training and visual feedback of neural activity measured through functional magnetic resonance imaging.
Dawes, Piers; Bishop, Dorothy
Background: Auditory Processing Disorder (APD) does not feature in mainstream diagnostic classifications such as the "Diagnostic and Statistical Manual of Mental Disorders, 4th Edition" (DSM-IV), but is frequently diagnosed in the United States, Australia and New Zealand, and is becoming more frequently diagnosed in the United Kingdom. Aims: To…
Barbaro, Josephine; Dissanayake, Cheryl
Despite behavioral markers of autism spectrum disorders (ASDs) being evident within the first year of life, there remains little research on the prospective identification of these children in a community-based setting before 18 months. The aim in the Social Attention and Communication Study was to identify infants and toddlers at risk of an ASD during their first 2 years. A total of 241 Maternal and Child Health nurses were trained on the early signs of ASDs at 8, 12, 18 and 24 months. Using a developmental surveillance approach with a community-based sample, a cohort of 20,770 children was monitored on early social attention and communication behaviors. Those infants/toddlers identified as "at risk" were referred to the Social Attention and Communication Study team from 12 months for developmental and diagnostic assessments at 6 monthly intervals, until 24 months. A total of 216 children were referred, with 110 being further assessed. Of these, 89 children were classified with an ASD at 24 months, and 20 children had developmental and/or language delays, resulting in a Positive Predictive value of 81%. The estimated rate of ASDs in the Social Attention and Communication Study cohort ranged from 1:119 to 1:233 children. Estimated sensitivity ranged from 69% to 83.8%, and estimated specificity ranged from 99.8% to 99.9%. Developmental surveillance of social and communication behaviors, which differ according to the age at which the child is monitored, enables the accurate identification of children at risk for ASDs between 12 and 24 months. Education on the early signs is recommended for all primary health care professionals to facilitate early identification of ASDs.
Full Text Available Developmental coordination disorder (DCD is a neurodevelopmental disorder which affects different areas of an individual's everyday living and learning. Children with DCD are often diagnosed late, at school age, when difficulties with writing, organization and executive functions arise, even though one could have seen signs of probable DCD very early in childhood. The aim of this study was to further assess five-year-old, preschool children recognized as children with DCD, and develop a model for a comprehensive special educational diagnostic assessment of abilities and skills in five-year-old children with DCD. The comprehensive diagnostic assessment comprised observations and assessments of children’s everyday skills in their kindergartens. It also included semi-structured interviews with children, their parents and their preschool teachers. Further, children’s skills and abilities in all developmental domains (sensory and motor skills, cognitive abilities, social and emotional development, speech and language development, including emerging literacy skills, and early maths skills were assessed. A qualitative analysis was undertaken to compare individual children’s comprehensive assessments. The developed model included both the strengths and weaknesses of the assessed children.
Ray-Kaeser, Sylvie; Satink, Ton; Andresen, Mette; Martini, Rose; Thommen, Evelyne; Bertrand, Anne Martine
The Developmental Coordination Disorder Questionnaire (DCDQ'07) is a Canadian-English instrument recommended for screening children aged 5 to 15 years who are at risk for developmental coordination disorder. While a Canadian-French version of the DCDQ'07 presently exists, a European-French version does not. To produce a cross-cultural adaptation of the DCDQ'07 for use in areas of Europe where French is spoken and to test its cultural relevance in French-speaking Switzerland. Cross-cultural adaptation was done using established guidelines. Cultural relevance was analyzed with cognitive interviews of thirteen parents of children aged 5.0 to 14.6 years (mean age: 8.5 years, SD = 3.4), using think-aloud and probing techniques. Cultural and linguistic differences were noted between the European-French, the Canadian-French, and the original versions of the DCDQ'07. Despite correct translation and expert committee review, cognitive interviews revealed that certain items of the European-French version were unclear or misinterpreted and further modifications were needed. After rewording items as a result of the outcomes of the cognitive interview, the European-French version of the DCDQ'07 is culturally appropriate for use in French-speaking Switzerland. Further studies are necessary to determine its psychometric properties.
Atlas, Jeffrey A.; Lapidus, Leah Blumberg
A total of 48 children (aged 4-14) with severe pervasive developmental disturbance, exhibiting mutism, echolalia, or nonecholalic speech, were observed in their communicative behaviors across modalities. Levels of symbolization in gesture, play, and drawing were significantly intercorrelated and were most strongly correlated with the criterion…
Zucker, Kenneth J; Wood, Hayley; Singh, Devita; Bradley, Susan J
This article provides a summary of the therapeutic model and approach used in the Gender Identity Service at the Centre for Addiction and Mental Health in Toronto. The authors describe their assessment protocol, describe their current multifactorial case formulation model, including a strong emphasis on developmental factors, and provide clinical examples of how the model is used in the treatment.
Sagvolden, Terje; Johansen, Espen Borgå; Aase, Heidi; Russell, Vivienne Ann
Attention-deficit/hyperactivity disorder (ADHD) is currently defined as a cognitive/behavioral developmental disorder where all clinical criteria are behavioral. Inattentiveness, overactivity, and impulsiveness are presently regarded as the main clinical symptoms. The dynamic developmental behavioral theory is based on the hypothesis that altered dopaminergic function plays a pivotal role by failing to modulate nondopaminergic (primarily glutamate and GABA) signal transmission appropriately. A hypofunctioning mesolimbic dopamine branch produces altered reinforcement of behavior and deficient extinction of previously reinforced behavior. This gives rise to delay aversion, development of hyperactivity in novel situations, impulsiveness, deficient sustained attention, increased behavioral variability, and failure to "inhibit" responses ("disinhibition"). A hypofunctioning mesocortical dopamine branch will cause attention response deficiencies (deficient orienting responses, impaired saccadic eye movements, and poorer attention responses toward a target) and poor behavioral planning (poor executive functions). A hypofunctioning nigrostriatal dopamine branch will cause impaired modulation of motor functions and deficient nondeclarative habit learning and memory. These impairments will give rise to apparent developmental delay, clumsiness, neurological "soft signs," and a "failure to inhibit" responses when quick reactions are required. Hypofunctioning dopamine branches represent the main individual predispositions in the present theory. The theory predicts that behavior and symptoms in ADHD result from the interplay between individual predispositions and the surroundings. The exact ADHD symptoms at a particular time in life will vary and be influenced by factors having positive or negative effects on symptom development. Altered or deficient learning and motor functions will produce special needs for optimal parenting and societal styles. Medication will to some degree
This paper discusses the maladjustment reaction of adults with autism spectrum disorders such as Asperger syndrome to a working environment or university setting, from the viewpoint of a psychiatrist seeing them in areas of occupational and college mental health. The author is in charge of a day care program for company workers, called "The Return-to-Work Support Course", at a mental clinic. A total of 176 patients attended the program and most of them were originally diagnosed with depression and/or adjustment disorder. The author noted that five of them showed some traits of developmental disorder. They initially had been capable specialists at work, but started showing mental and psychosocial dysfunction as they received promotions and became team leaders or managers. It seems that changes in their work environment involving their superiors, co-workers, the organization, etc., easily affected their work performance and triggered their maladjustment, and finally caused their leave of absence. The author also works in a university student counseling room, and noted that some students started to show maladjustment in the course of writing their graduation thesis or applying for jobs, although they previously had performed fairly well at university. They could not maintain good communication with thesis advisers, could not perform adequately during a group discussion at a job interview, or could not cope with personnel offices appropriately. After being interviewed, they were diagnosed with Asperger syndrome. Not only child psychiatrists but all psychiatrists should have a sufficient knowledge of developmental disorders, and they need to be cautious when they diagnose patients and inform them.
Dewey, Deborah; Volkovinskaia, Anna
Health-related quality of life (HRQoL) and peer relationships were investigated in adolescents with developmental coordination disorder (DCD) and attention-deficit-hyperactivity disorder (ADHD). Adolescents with DCD (n=9), ADHD (n=9), DCD and ADHD (n=10), and typically developing adolescents (n=16) completed the following questionnaires: KIDSCREEN-52 Health-Related Quality of Life Questionnaire and Peer Relations Questionnaire for Children. Twenty-five participants took part in semi-structured interviews. Adolescents with DCD and ADHD had lower HRQoL on the mood and emotions, school environment, and financial resources scales of the KIDSCREEN-52 than adolescents in the DCD and typically developing groups (all p<0.05). On the Peer Relations Questionnaire for Children, the DCD and ADHD group reported significantly higher victimization compared with those in the typically developing (p=0.030) and DCD (p=0.010) groups. Qualitative interviews among young people with DCD and ADHD revealed feelings of marginalization and victimization. Descriptors such as 'misfits', 'oddballs', 'weird', and 'the rejects' were used to describe themselves. HRQoL and peer relationships are negatively affected in adolescents with DCD and ADHD. WHAT THIS PAPER ADDS?: Children with developmental coordination disorder (DCD) do not display poorer overall health-related quality of life (HRQoL) versus typically developing controls. Having DCD and attention-deficit-hyperactivity disorder (ADHD) was associated with poorer HRQoL. Adolescents with DCD and ADHD experience significantly higher levels of peer victimization than typically developing adolescents. HRQoL and peer relationships are significantly associated in adolescent respondents. © 2018 Mac Keith Press.
George A. Karkashadze
Full Text Available Neurogenetics is a thriving young science greatly contributing to the generally accepted concept of the brain development in health and disease. Thereby; scientists are not only able to highlight new key points in traditional ideas about the origin of diseases; but also to completely rethink their view on the problem of pathology development. In particular; new data on neurogenetics of perinatal affections of the central nervous system (CNS has appeared. Genetic factors in varying degrees affect perinatal hypoxic-ischemic CNS affections. Prematurity determination stays the most studied among them. Nevertheless; there is increasing evidence of significant epigenetic regulations of neuro-expression caused by hypoxia; malnutrition of a pregnant woman; stress; smoking; alcohol; drugs that either directly pathologically affect the developing brain; or form a brain phenotype sensitive to a perinatal CNS affection. New data obliges to change the approaches to prevention of perinatal CNS affections.
Blum, K; Oscar-Berman, M; Giordano, J; Downs, BW; Simpatico, T; Han, D; Femino, John
Work from our laboratory in both in-patient and outpatient facilities utilizing the Comprehensive Analysis of Reported Drugs (CARD)™ found a significant lack of compliance to prescribed treatment medications and a lack of abstinence from drugs of abuse during active recovery. This unpublished, ongoing research provides an impetus to develop accurate genetic diagnosis and holistic approaches that will safely activate brain reward circuitry in the mesolimbic dopamine system. This editorial focuses on the neurogenetics of brain reward systems with particular reference to genes related to dopaminergic function. The terminology “Reward Deficiency Syndrome” (RDS), used to describe behaviors found to have an association with gene-based hypodopaminergic function, is a useful concept to help expand our understanding of Substance Use Disorder (SUD), process addictions, and other obsessive, compulsive and impulsive behaviors. This editorial covers the neurological basis of pleasure and the role of natural and unnatural reward in motivating and reinforcing behaviors. Additionally, it briefly describes the concept of natural dopamine D2 receptor agonist therapy coupled with genetic testing of a panel of reward genes, the Genetic Addiction Risk Score (GARS). It serves as a spring-board for this combination of novel approaches to the prevention and treatment of RDS that was developed from fundamental genomic research. We encourage further required studies. PMID:23264886
Higashijima, Shin-Ichi; Okamoto, Hitoshi
Abstract: After coming back to Japan to work in the Department of Physics at the University of Tokyo, Yoshiki Hotta spent a year or so on searching for behavioral mutants of goldfish. Although this endeavor did not succeed, he remained an adamant supporter of the development of zebrafish research in Japan. Here we review how his support helped zebrafish neurogenetics in Japan gain a unique position in the world research community.
Neurogenesis and morphogenesis in the rat bed nucleus of the stria terminalis (strial bed nucleus) were examined with [ 3 H]thymidine autoradiography. For neurogenesis, the experimental animals were the offspring of pregnant females given an injection of [ 3 H]thymidine on 2 consecutive gestational days. Nine groups of embryos were exposed to [ 3 H]thymidine on E13-E14, E14-E15,... E21-E22, respectively. On P60, the percentage of labeled cells and the proportion of cells originating during 24-hour periods were quantified at six anteroposterior levels in the strial bed nucleus. On the basis of neurogenetic gradients, the strial bed nucleus was divided into anterior and posterior parts. The anterior strial bed nucleus shows a caudal (older) to rostral (younger) neurogenetic gradient. Cells in the vicinity of the anterior commissural decussation are generated mainly between E13 and E16, cells just posterior to the nucleus accumbens mainly between E15 and E17. Within each rostrocaudal level, neurons originate in combined dorsal to ventral and medial to lateral neurogenetic gradients so that the oldest cells are located ventromedially and the youngest cells dorsolaterally. The most caudal level has some small neurons adjacent to the internal capsule that originate between E17 and E20. In the posterior strial bed nucleus, neurons extend ventromedially into the posterior preoptic area. Cells are generated simultaneously along the rostrocaudal plane in a modified lateral (older) to medial (younger) neurogenetic gradient. Ventrolateral neurons originate mainly between E13 and E16, dorsolateral neurons mainly between E15 and E16, and medial neurons mainly between E15 and E17. The youngest neurons are clumped into a medial core area just ventral to the fornix
Morón-Nozaleda, María Goretti; Díaz-Caneja, Covadonga M; Rodríguez-Toscano, Elisa; Arango, Celso; Castro-Fornieles, Josefina; de la Serna, Elena; Espliego, Ana; Sanchez-Gistau, Vanessa; Romero, Soledad; Baeza, Immaculada; Sugranyes, Gisela; Moreno, Carmen; Moreno, Dolores
The aim of this is to describe psychopathology, functioning and symptom dimensions accounting for subthreshold manifestations and developmental status in child and adolescent offspring of parents with bipolar disorder ("high-risk offspring"). The study population comprised 90 high-risk offspring (HR-offspring) and 107 offspring of community control parents (CC-offspring). Direct clinical observations and parental and offspring reports based on selected standardized clinical scales were used to assess offspring threshold and subthreshold diagnoses, symptoms and functioning. All outcomes were compared between the whole HR-offspring and CC-offspring samples and then by developmental status. After controlling for potential confounders, HR-offspring showed significantly poorer adjustment for childhood (r = 0.18, p = 0.014) and adolescence (r = 0.21, p = 0.048) than CC-offspring, as well as more emotional problems (r = 0.24, p = 0.001) and higher depression scores (r = 0.16, p = 0.021). As for differences in lifetime categorical diagnoses (threshold and subthreshold) between HR-offspring and CC-offspring, the prevalence of disruptive disorders was higher in pre-pubertal HR-offspring (OR 12.78 [1.45-112.42]), while prevalence of mood disorders was higher in post-pubertal HR-offspring (OR 3.39 [1.14-10.06]). Post-pubertal HR-offspring presented more prodromal (r = 0.40, p = 0.001), negative (r = 0.38, p = 0.002), manic (r = 0.22, p = 0.035) and depressive (r = 0.23, p = 0.015) symptoms than pre-pubertal HR-offspring, as well as more peer relationship problems (r = 0.31, p = 0.004), poorer childhood adjustment (r = 0.22, p = 0.044) and worse current psychosocial functioning (r = 0.27, p = 0.04). Externalizing psychopathology is more prevalent in pre-pubertal HR-offspring, while depressive and prodromal symptoms leading to functional impairment are more prominent in post-pubertal HR-offspring. Developmental approaches and
J. Patrick Malone
Full Text Available The contribution of evolutionary psychology to the study of development and psychopathology depends on adherence to the principles of evolutionary biology. The human brain evolved because selection favored neither size nor complexity but instead the phenotypic plasticity supporting cognitive flexibility. Cell proliferation, migration, elongation, synaptogenesis, synaptic pruning, apoptosis, and myelination occur at varying rates during asynchronous phases of development throughout the brain. Developmentally sensitive periods result from phenotypic plasticity and are vital for adaptation to the environment. The biological systems surrounding the CYP19A1 gene provide mechanisms for neuroprotection and targeted neuronal debridement in response to environmental stress, uniting selection with developmental biology. Updates to Dunbar’s original hypothesis with current primatological data, inclusion of total brain mass, and the introduction of CYP19A1 orthology from nine primate species yields a linear regression, R 2 = .994, adjusted R 2 = .989, F(3, 5 = 143.758, p < .001.
Holwerda, Anja; van der Klink, Jac J. L.; de Boer, Michiel R.; Groothoff, Johan W.; Brouwer, Sandra
For individuals with autism spectrum disorders (ASD) and attention deficit hyperactivity disorder (ADHD) work participation is a challenge, as shown by their low employment rates. The aim of this study was to investigate which factors predict work participation, finding work as well as maintaining
VanDenHeuvel, A; Fitzgerald, M; Greiner, B; Perry, I J
The objectives of this study were to assess the feasibility of administering the CHecklist for Autism in Toddlers (CHAT) at the 18-month developmental check, estimate the prevalence of screening positive for autism at the first and second administrations of the CHAT and estimate the prevalence of diagnosed cases of autism. A cross-sectional study design was utilised and data was collected at child developmental screening clinics in counties Cork and Kerry. The sample group consisted of infants attending the routine 18-month developmental assessment, who were broadly representative of infants in the catchment area. The main outcome measure was a medium or high-risk score following two administrations of the CHAT screening instrument and a positive diagnosis of autism after clinical assessment. The CHAT was administered to 2117 infants (79% of those approached) of whom 29 were scored at medium or high risk at first screening, resulting in a prevalence rate of 137 per 10,000 (95% CI: 87-187). A total of 7 of the 29 first screen positive infants were positive (medium or high risk) at second screening, 12 were low risk and 10 parents refused to participate. On subsequent clinical assessment of the 7 infants screening positive on first and second assessment and assessment of 5 of the 10 infants whose parents declined second screening, 7 children received a diagnosis of autism. Thus the overall prevalence of clinically diagnosed autism following this screening exercise was 33.1 per 10,000 (95% CI: 13.3 to 68.0). The CHAT instrument is a useful tool to help identify childhood autism among infants. Routine use of this instrument at 18-month developmental assessment merits consideration.
Huerta, Marisela; Bishop, Somer L; Duncan, Amie; Hus, Vanessa; Lord, Catherine
Substantial revisions to the DSM-IV criteria for autism spectrum disorders (ASDs) have been proposed in efforts to increase diagnostic sensitivity and specificity. This study evaluated the proposed DSM-5 criteria for the single diagnostic category of autism spectrum disorder in children with DSM-IV diagnoses of pervasive developmental disorders (PDDs) and non-PDD diagnoses. Three data sets included 4,453 children with DSM-IV clinical PDD diagnoses and 690 with non-PDD diagnoses (e.g., language disorder). Items from a parent report measure of ASD symptoms (Autism Diagnostic Interview-Revised) and clinical observation instrument (Autism Diagnostic Observation Schedule) were matched to DSM-5 criteria and used to evaluate the sensitivity and specificity of the proposed DSM-5 criteria and current DSM-IV criteria when compared with clinical diagnoses. Based on just parent data, the proposed DSM-5 criteria identified 91% of children with clinical DSM-IV PDD diagnoses. Sensitivity remained high in specific subgroups, including girls and children under 4. The specificity of DSM-5 ASD was 0.53 overall, while the specificity of DSM-IV ranged from 0.24, for clinically diagnosed PDD not otherwise specified (PDD-NOS), to 0.53, for autistic disorder. When data were required from both parent and clinical observation, the specificity of the DSM-5 criteria increased to 0.63. These results suggest that most children with DSM-IV PDD diagnoses would remain eligible for an ASD diagnosis under the proposed DSM-5 criteria. Compared with the DSM-IV criteria for Asperger's disorder and PDD-NOS, the DSM-5 ASD criteria have greater specificity, particularly when abnormalities are evident from both parents and clinical observation.
International efforts to test gene function in the mouse by the systematic knockout of each gene are creating many lines in which embryonic development is compromised. These homozygous lethal mutants represent a potential treasure trove for the biomedical community. Developmental biologists could exploit them in their studies of tissue differentiation and organogenesis; for clinical researchers they offer a powerful resource for investigating the origins of developmental diseases that affect newborns. Here, we outline a new programme of research in the UK aiming to kick-start research with embryonic lethal mouse lines. The ‘Deciphering the Mechanisms of Developmental Disorders’ (DMDD programme has the ambitious goal of identifying all embryonic lethal knockout lines made in the UK over the next 5 years, and will use a combination of comprehensive imaging and transcriptomics to identify abnormalities in embryo structure and development. All data will be made freely available, enabling individual researchers to identify lines relevant to their research. The DMDD programme will coordinate its work with similar international efforts through the umbrella of the International Mouse Phenotyping Consortium [see accompanying Special Article (Adams et al., 2013] and, together, these programmes will provide a novel database for embryonic development, linking gene identity with molecular profiles and morphology phenotypes.
Hall, Deborah A; O'Keefe, Joan A
This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists. Copyright © 2013. Published by Elsevier Inc.
Loeb, Katharine L.; Jones, Jennifer; Roberto, Christina A.; Gugga, S. Sonia; Marcus, Sue M.; Attia, Evelyn; Walsh, B. Timothy
Objective Across studies, adolescents score lower on measures of eating disorder pathology than adults, but it is unclear whether such findings reflect discrepancies inherent to site/study or true developmental differences. The aim of this study was to determine whether age predicts subscale and diagnostic scores of the Eating Disorder Examination (EDE) in adolescents and adults with anorexia nervosa (AN) admitted to a single research center within the same period of time. Method The sample consisted of 16 adolescent and 20 adult consecutive admissions to parallel, age-specific, research-based AN treatment programs. Participants completed a baseline evaluation at admission that included the EDE, depression measures, and global assessment of functioning scales. Results Age significantly predicted EDE scores in univariate regression analyses. However, in multivariate models that included severity indices of general and specific psychopathology as covariates, age was no longer a significant predictor of severity of eating disorder symptoms. Discussion This study adds to the growing body of data showing lower scores on the EDE for adolescents with AN relative to their adult counterparts, while eliminating potential site confounds. Results indicate that the higher adult scores may be carried in part by a more overall severe and chronic general clinical profile. PMID:21823141
Campbell, Susan B; Mahoney, Amanda S; Northrup, Jessie; Moore, Elizabeth L; Leezenbaum, Nina B; Brownell, Celia A
Developmental trajectories of children's pretend play and social engagement, as well as parent sensitivity and stimulation, were examined in toddlers with an older sibling with autism spectrum disorder (ASD, high risk; HR) and toddlers with typically-developing older siblings (low risk; LR). Children (N = 168, 97 boys, 71 girls) were observed at 22, 28, and 34 months during free play with a parent and elicited pretend play with an examiner. At 28 and 34 months, children were asked to imagine the consequences of actions pantomimed by the examiner on a pretend transformation task. At 36 months children were assessed for ASD, yielding 3 groups for comparison: HR children with ASD, HR children without ASD (HR-noASD), and LR children. Children in all 3 groups showed developmental changes, engaging in more bouts of pretend play and obtaining higher scores on the elicited pretend and transformation tasks with age, but children with ASD lagged behind the other 2 groups on most measures. Children with ASD were also less engaged with their parents or the examiner during play interactions than either LR or HR-noASD children, with minimal developmental change evident. Parents, regardless of group, were highly engaged with their children, but parents of HR-noASD children received somewhat higher ratings on stimulation than parents of LR children. Most group differences were not accounted for by cognitive functioning. Instead, lower social engagement appears to be an important correlate of less advanced pretend skills, with implications for understanding the early development of children with ASD and for early intervention.
Matson, Johnny L.; Mahan, Sara; Fodstad, Jill C.; Hess, Julie A.; Neal, Daniene
Motor skills were assessed in 397 toddlers, and it was demonstrated that atypically developing toddlers exhibited significantly greater motor skill abilities than toddlers with autistic disorder. No significant difference on gross or fine motor skill abilities were found between atypically developing toddlers and toddlers with pervasive…
Hanna E Stevens
Full Text Available There is increasing appreciation for the neurodevelopmental underpinnings of many psychiatric disorders. Disorders that begin in childhood such as autism, language disorders or mental retardation as well as adult-onset mental disorders may have origins early in neurodevelopment. Neural stem cells (NSCs can be defined as self-renewing, multipotent cells that are present in both the embryonic and adult brain. Several recent research findings demonstrate that psychiatric illness may begin with abnormal specification, growth, expansion and differentiation of embryonic NSCs. For example, candidate susceptibility genes for schizophrenia, autism and major depression include the signaling molecule Disrupted In Schizophrenia-1 (DISC-1, the homeodomain gene engrailed-2 (EN-2, and several receptor tyrosine kinases (RTKs, including MET, brain-derived growth factor (BDNF and fibroblast growth factors (FGF, all of which have been shown to play important roles in NSCs or neuronal precursors. We will discuss here stem cell biology, signaling factors that affect these cells, and the potential contribution of these processes to the etiology of neuropsychiatric disorders. Hypotheses about how some of these factors relate to psychiatric disorders will be reviewed.
Li, Guo-Kai; Liu, Gui-Hua; Qian, Qin-Fang; Ge, Pin; Xie, Yan-Qin; Yang, Min-Yan; Wang, Zhang-Qiong; Ou, Ping
To investigate the influence of home nurture environment on language development and social emotion in children with developmental language disorder (DLD). The 1-3 Years Child Home Nurture Environment Scale, Gesell Developmental Scale, and Infant-Toddler Social and Emotional Assessment Scale were used for the evaluation of 125 children with DLD. A total of 130 children with normal language development matched for age and sex were enrolled as control group. Compared with the control group, the DLD group had a significantly higher proportion of children in a bad home nurture environment and significantly lower scores of all domains of home nurture environment (Pnurture environment score was positively correlated with the level of language development (r=0.536, Pnurture environment had direct influence on language development in children with DLD and affected their language development via the mediating effect of social emotion. Home nurture environment influences language development and social emotion in children with DLD, and social emotion has a partial mediating effect between home nurture environment and language development.
Full Text Available The aims of the present study were to (a compare healthy children in terms of sensorimotor maturity to untreated children diagnosed with developmental coordination disorder (DCD and (b compare healthy children to diagnosed children following completed treatment with sensorimotor therapy. Participants were 298 children, 196 boys and 102 girls, distributed into a Norm group of healthy children (n = 99 and a group of children diagnosed with DCD (n = 199 with a total mean age of 8.77 years (SD = 2.88. Participants in both groups were assessed on instruments aimed to detect sensorimotor deviations. The children in the DCD group completed, during on average 36 months, sensorimotor therapy which comprised stereotypical fetal- and infant movements, vestibular stimulation, tactile stimulation, auditory stimulation, complementary play exercises, gross motor milestones, and sports-related gross motor skills. At the final visit a full assessment was once more performed. Results showed that the Norm group performed better on all sensorimotor tests as compared to the untreated children from the DCD group, with the exception of an audiometric test where both groups performed at the same level. Girls performed better on tests assessing proprioceptive and balance abilities. Results also showed, after controls for natural maturing effects, that the children from the DCD group after sensorimotor therapy did catch up with the healthy children. The concept of "catching-up" is used within developmental medicine but has not earlier been documented with regard to children and youth in connection with DCD.
Speedtsberg, Merete Brink; Christensen, Sofie Bouschinger; Andersen, Ken Kjøller
BACKGROUND: Developmental coordination disorder (DCD) is a neurodevelopmental impairment that affects approximately 6% of children in primary school age. Children with DCD are characterized by impaired postural control. It has yet to be determined what effect peripheral and central neuromuscular...... control has on their balance control. OBJECTIVE: The aim of this study was to investigate the underlying mechanisms to impaired postural control in children with DCD using the rambling-trembling decomposition of the center of pressure (CoP). METHOD: Nine children with DCD (9.0±0.5years, 7 boys, 2 girls...... with fixed support surface. In ML direction children with DCD had a lower relative contribution of rambling to total sway (p=0.013). CONCLUSION: This study showed that impaired postural control in children with DCD is associated with less efficient supraspinal control represented by increased rambling...
Full Text Available Verbal cognitive profile and general social functioning were compared between two groups of children aged 5 to 7 years, one with high-function autism and the other with developmental mixed receptive-expressive language disorders. The two groups, totaling 50 children, were matched for age and non-verbal IQ (mean, 90. Both groups had impaired verbal cognitive profile and social adaptive functioning, with no statistically significant differences between the two groups. The implications of our findings are discussed. Current preschool and early childhood medical-educational intervention programs in Taiwan must design and implement curricula in which children with language delay, whether autistic or not, can develop essential social skills.
Gabbard, Carl; Bobbio, Tatiana
Several research studies indicate that children with developmental coordination disorder (DCD) show delays with an array of perceptual-motor skills. One of the explanations, based on limited research, is that these children have problems generating and/or monitoring a mental (action) representation of intended actions, termed the "internal modeling deficit" (IMD) hypothesis. According to the hypothesis, children with DCD have significant limitations in their ability to accurately generate and utilize internal models of motor planning and control. The focus of this review is on one of the methods used to examine action representation-motor imagery, which theorists argue provides a window into the process of action representation (e.g., Jeannerod, 2001 . Neural simulation of action: A unifying mechanism for motor cognition. Neuroimage, 14, 103-109.). Included in the review are performance studies of typically developing and DCD children, and possible brain structures involved.
Ashkenazi, Tal; Weiss, Patrice L; Orian, Danielle; Laufer, Yocheved
To explore the feasibility of using a low-cost, off-the-shelf virtual reality (VR) game to treat young children with developmental coordination disorder (DCD) and to determine the effect of this intervention on motor function. Nine children, aged 4 to 6 years, referred to physical therapy because of suspected DCD participated in 10 game-based intervention sessions. Outcome measures included Movement Assessment Battery for Children-2 (M-ABC-2), the DCD Questionnaire (DCD-Q), the 6-minute walk test, and 10-m walk test. Statistically significant changes were observed in the total standard score (P = .024) and the balance subscore (P = .012) of the M-ABC-2 and in the DCD-Q (P interaction with the VR environment. VR games seemed to be beneficial in improving the children's motor function.
Munson, Benjamin; Bjorum, Elissa M.; Windsor, Jennifer
This study examined whether accuracy in producing linguistic stress reliably distinguished between five children with suspected developmental apraxia of speech (sDAS) and five children with phonological disorder (PD). No group differences in the production of stress were found; however, listeners judged that nonword repetitions of the children…
Leemrijse, C.; Meijer, O.G.; Vermeer, A.; Ader, H.J.; Diemel, S.
Objective: evaluation of the efficacy of Le Bon Départ (LBD) treatment and Sensory Integration (SI) treatment on motor performance on children with developmental coordination disorder. Design: a single subject design with multiple baseline and alternating treatments. Order of treatment and lenght of
Althaus, M; deSonneville, LMJ; Minderaa, RB; Hensen, LGN; Til, RB
A sample of 8-to 12-year-old nonhyperactive children of normal intelligence with the DSM-III-R diagnosis of pervasive developmental disorder not otherwise specified (PDDNOS) completed two selective attention tasks. Following a linear stage model of information processing, it was demonstrated that
CARULLA, LUIS SALVADOR; REED, GEOFFREY M.; VAEZ-AZIZI, LEILA M.; COOPER, SALLY-ANN; LEAL, RAFAEL MARTINEZ; BERTELLI, MARCO; ADNAMS, COLLEEN; COORAY, SHERVA; DEB, SHOUMITRO; DIRANI, LEYLA AKOURY; GIRIMAJI, SATISH CHANDRA; KATZ, GREGORIO; KWOK, HENRY; LUCKASSON, RUTH; SIMEONSSON, RUNE; WALSH, CAROLYN; MUNIR, KEMIR; SAXENA, SHEKHAR
Although “intellectual disability” has widely replaced the term “mental retardation”, the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)’s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as “a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills”. The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features. PMID:21991267
Kaiser, Marie-Laure; Albaret, JM; Cantell, MH
Objective: Children with Developmental Coordination Disorder (DCD) struggle with the activities of daily living which require motor coordination. In order to appreciate the impact of the DCD on the participation, several questionnaires for teachers and/or parents have been developed. The
Lunsky, Yona; Hastings, Richard P.; Weiss, Jonathan A.; Palucka, Anna M.; Hutton, Sue; White, Karen
This study evaluated two community based interventions for parents of adults with autism spectrum disorder and other developmental disabilities. Parents in the mindfulness group reported significant reductions in psychological distress, while parents in the support and information group did not. Reduced levels of distress in the mindfulness group…
Tsai, Chia-Liang; Wang, Chun-Hao; Tseng, Yu-Ting
The study investigated whether 10-week soccer training can benefit the inhibitory control and neuroelectric indices in children with developmental coordination disorder (DCD). Fifty-one children were divided into groups of typically developing (TD, n = 21), DCD-training (n = 16), and DCD non-training (n=14) individuals using the for Children test,…
Fernandez-Jaen, Alberto; Fernandez-Mayoralas, Daniel Martin; Calleja-Perez, Beatriz; Munoz-Jareno, Nuria; Campos Diaz, Maria del Rosario; Lopez-Arribas, Sonia
Objective: Atomoxetine's tolerance and efficacy were studied in 24 patients with pervasive developmental disorder and symptoms of ADHD. Method: Prospective, open-label, 16-week study was performed, using the variables of the Clinical Global Impression Scale and the Conners' Scale, among others. Results: A significant difference was found between…
Venetsanou, Fotini; Kambas, Antonis; Ellinoudis, Theodoros; Fatouros, Ioannis; Giannakidou, Dimitra; Kourtessis, Thomas
Developmental Coordination Disorder (DCD) is an important risk factor in the development of children that can have a significant academic and social impact. This reinforces the need for its timely identification using appropriate assessment methods and accurate screening tests. The commonly used standardized motor test for the DCD identification…
ALTHAUS, M; MINDERAA, RB; DIENSKE, H
Data obtained by direct observation of 112 3-6-year-old normal children and 31 children with a pervasive developmental disorder aged 3-6 were used to construct behaviour scales by means of simultaneous component analysis. This is a technique for finding behaviour clusters (components) common to
Landau, YE; Gross-Tsur, [No Value; Auerbach, JG; Van der Meere, J; Shalev, RS
We studied clinical aspects of attention in three groups: children with developmental right-hemisphere syndrome and attention-deficit hyperactivity disorder (ADHD), children with ADHD only, and normal controls. The three groups (N = 54) were case-matched for age, sex, IQ, hand dominance, and
Tsai, Chia-Liang; Yu, Yi-Kai; Chen, Yung-Jung; Wu, Sheng-Kuang
This study was designed to investigate separately the inhibitory response capacity and the lateralization effect in children with developmental coordination disorder (DCD) in the endogenous and exogenous modes of orienting attention. Children with DCD on the lower extremities (DCD-LEs), along with age-matched controls, completed four tasks that…
[Obsessive-compulsive symptoms, tics, stereotypic movements or need for absolute consistency? The occurrence of repetitive activities in patients with pervasive developmental disorders--case studies].
Bryńska, Anita; Lipińska, Elzbieta; Matelska, Monika
Repetitive and stereotyped behaviours in the form of stereotyped interests or specific routine activities are one ofthe diagnostic criteria in pervasive developmental disorders. The occurrence of repetitive behaviours in patients with pervasive developmental disorders is a starting point for questions about the type and classification criteria of such behaviours. The aim of the article is to present case studies of patients with pervasive developmental disorders and co-morbid symptoms in the form of routine activities, tics, obsessive-compulsive symptoms or stereotyped behaviours. The first case study describes a patient with Asperger's syndrome and obsessive compulsive symptoms. The diagnostic problems regarding complex motor tics are discussed in the second case study which describes a patient with Asperger's syndrome and Gilles de la Tourette syndrome. The third and fourth case study describes mono-zygotic twins with so called High Functioning Autism whose repetitive activities point to either obsessive compulsive symptoms, stereotypic movements, need for absolute consistency or echopraxia. The possible comorbidity of pervasive developmental disorders and symptoms in the form of repetitive behaviours, possible interactions as well as diagnostic challenges is discussed in the article.
Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, United States, 2006. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 58, Number SS-10
Problem/Condition: Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by atypical development in socialization, communication, and behavior. ASDs typically are apparent before age 3 years, with associated impairments affecting multiple areas of a person's life. Because no biologic marker exists for ASDs,…
Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties.
Celletti, Claudia; Mari, Giorgia; Ghibellini, Giulia; Celli, Mauro; Castori, Marco; Camerota, Filippo
Developmental coordination disorder (DCD) is a recognized childhood disorder mostly characterized by motor coordination difficulties. Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly featuring generalized joint hypermobility (gJHM), musculoskeletal pain, and minor skin features. Although these two conditions seem apparently unrelated, recent evidence highlights a high rate of motor and coordination findings in children with gJHM or JHS/EDS-HT. Here, we investigated the prevalence of gJHM in 41 Italian children with DCD in order to check for the existence of recognizable phenotypic subgroups of DCD in relation to the presence/absence of gJHM. All patients were screened for Beighton score and a set of neuropsychological tests for motor competences (Movement Assessment Battery for Children and Visual-Motor Integration tests), and language and learning difficulties (Linguistic Comprehension Test, Peabody Picture Vocabulary Test, Boston Naming Test, Bus Story Test, and Memoria-Training tests). All patients were also screening for selected JHS/EDS-HT-associated features and swallowing problems. Nineteen (46%) children showed gJHM and 22 (54%) did not. Children with DCD and gJHM showed a significant excess of frequent falls (95 vs. 18%), easy bruising (74 vs. 0%), motor impersistence (89 vs. 23%), sore hands for writing (53 vs. 9%), attention deficit/hyperactivity disorder (89 vs. 36%), constipation (53 vs. 0%), arthralgias/myalgias (58 vs. 4%), narrative difficulties (74 vs. 32%), and atypical swallowing (74 vs. 18%). This study confirms the non-causal association between DCD and gJHM, which, in turn, seems to increase the risk for non-random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system. © 2015 Wiley Periodicals, Inc.
Tanya Marie Evans
Full Text Available Math disability (MD is a neurodevelopmental disorder affecting mathematical abilities. Here we propose a new explanatory account of MD, the Procedural Deficit Hypothesis (PDH, that may further our understanding of the disorder. According to the PDH of MD, abnormalities of brain structures underlying the procedural memory system can lead to difficulties with math skills learned in this system, as well as problems with other functions that depend on these brain structures. This brain-based account is motivated in part by the high comorbidity between MD and language disorders such as dyslexia that may be partly explained by the PDH, as well as by the likelihood that learning automatized math skills should depend on procedural memory. Here we first lay out the PDH of MD, and then present specific predictions, examining the existing literature for each while pointing out weaknesses and gaps to be addressed by future research. Although we do not claim that the PDH is likely to fully explain MD, we do suggest that the hypothesis could have substantial explanatory power, and that it provides a useful theoretical framework that may advance our understanding of the disorder.
Flapper, Boudien C.T.; Schoemaker, Marina M.
Measurement of health-related quality of life (HRQOL) in attention-deficit-hyperactivity disorder (ADHD) gives a more complete picture of day-to-day functioning and treatment effects than behavioural rating alone. The aim of this pilot study was to investigate the impact of the combined diagnoses of
Cosper, Sharon M.; Lee, Gregory P.; Peters, Susan Beth; Bishop, Elizabeth
The objective of this study was to examine the efficacy of Interactive Metronome (Interactive Metronome, Sunrise, Florida, USA) training in a group of children with mixed attentional and motor coordination disorders to further explore which subcomponents of attentional control and motor functioning the training influences. Twelve children who had…
Crawford, Thomas N.; Cohen, Patricia; Johnson, Jeffrey G.; Sneed, Joel R.; Brook, Judith S.
Personality disorder symptoms were investigated in a community sample of young people (n = 714) to assess their relationship over time with well-being during adolescence and the emergence of intimacy in early adulthood. Drawing on Erikson's theory of psychosocial development, changes in adolescent well-being were conceptualized as indirect…
Wright, Aidan G C; Zalewski, Maureen; Hallquist, Michael N; Hipwell, Alison E; Stepp, Stephanie D
In recent years, major gains toward understanding the emergence of borderline personality disorder (BPD) pathology, which is typically first noted during adolescence, have been made. Simultaneously, a profound shift has occurred in the adult personality pathology literature, in which empirical evidence rebuts the idea that personality disorders (PDs) are intractable disorders that do not develop or otherwise change over time, and therefore cannot be treated. The present study addresses a gap in our understanding of within-person change in BPD symptoms across adolescence and contributes to the limited literature on outcomes associated with adolescent BPD. Using an at-risk community sample of girls (N = 2,450), the authors used bivariate latent growth curve models to analyze the codevelopment of BPD symptoms with eight domains of psychosocial functioning (e.g., academic achievement, social skills, sexual behavior) across ages 14-17. Findings revealed moderate to strong effect sizes for the associations between BPD symptoms and every domain of psychosocial functioning, suggesting that the development of BPD was coupled with poorer outcomes across development. Controlling for depression and conduct disorder features revealed unique associations between BPD and self-perception, social skills, and sexual behavior. These results highlight the increased need for extending advancements in the adult PD literature to research on PDs in adolescence, and for greater recognition of adolescent BPD in clinical settings.
Sonuga-Barke, Edmund J. S.; Halperin, Jeffrey M.
Early intervention approaches have rarely been implemented for the prevention of attention deficit/hyperactivity disorder (ADHD). In this paper we explore whether such an approach may represent an important new direction for therapeutic innovation. We propose that such an approach is most likely to be of value when grounded in and informed by…
Maheu, Marissa E; Ressler, Kerry J
The manipulation of neural plasticity as a means of intervening in the onset and progression of stress-related disorders retains its appeal for many researchers, despite our limited success in translating such interventions from the laboratory to the clinic. Given the challenges of identifying individual genetic variants that confer increased risk for illnesses like depression and post-traumatic stress disorder, some have turned their attention instead to focusing on so-called "master regulators" of plasticity that may provide a means of controlling these potentially impaired processes in psychiatric illnesses. The mammalian homolog of Tailless (TLX), Wnt, and the homeoprotein Otx2 have all been proposed to constitute master regulators of different forms of plasticity which have, in turn, each been implicated in learning and stress-related disorders. In the present review, we provide an overview of the changing distribution of these genes and their roles both during development and in the adult brain. We further discuss how their distinct expression profiles provide clues as to their function, and may inform their suitability as candidate drug targets in the treatment of psychiatric disorders. © 2017 Maheu and Ressler; Published by Cold Spring Harbor Laboratory Press.
Maheau, Marissa E.; Ressler, Kerry J.
The manipulation of neural plasticity as a means of intervening in the onset and progression of stress-related disorders retains its appeal for many researchers, despite our limited success in translating such interventions from the laboratory to the clinic. Given the challenges of identifying individual genetic variants that confer increased risk…
A. Lukoshe (Akvile); A.C.S. Hokken-Koelega (Anita); A. van der Lugt (Aad); T.J.H. White (Tonya)
textabstractBackground: Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no
Schwenck, Christina; Mergenthaler, Julia; Keller, Katharina; Zech, Julie; Salehi, Sarah; Taurines, Regina; Romanos, Marcel; Schecklmann, Martin; Schneider, Wolfgang; Warnke, Andreas; Freitag, Christine M
A deficit in empathy is discussed to underlie difficulties in social interaction of children with autism spectrum disorder (ASD) and conduct disorder (CD). To date, no study has compared children with ASD and different subtypes of CD to describe disorder-specific empathy profiles in clinical samples. Furthermore, little is known about age influences on the development of empathic skills. The aim of the current study was to compare cognitive and emotional empathy in different age groups of children with ASD, CD with elevated or low callous-unemotional-traits (CU+ vs. CU-) and a matched control group (CG). Fifty-five boys with ASD, 36 boys with CD-CU+, 34 boys with CD-CU- and 67 controls were included. The study implemented three tasks on emotion recognition, perspective taking and emotional affection induced by another person's situation. Multivariate Analysis of variance with the factors group and age (median split) including their interaction term was performed to describe disorder-specific profiles. Empathy profiles showed differential impairment in children with ASD and CD-CU+. Boys with ASD were impaired in cognitive empathy while participants with CD-CU+ were impaired in emotional empathy. Children with CD-CU- did not differ from the CG. However, boys with CD-CU- were less emotionally reactive in response to film stimuli than children with ASD. Furthermore, we found strong age effects indicating an increase in cognitive and affective empathic skills beyond early infancy in all groups. In this study, distinct empathic profiles in children with ASD and CD-CU+ were found. Furthermore, the work demonstrates improvement of empathic skills throughout childhood and adolescence, which is comparable for individuals with psychiatric disorders and control children. These results yield implications for further research as well as for therapeutic interventions. © 2011 The Authors. Journal of Child Psychology and Psychiatry © 2011 Association for Child and
Muralidharan, Pooja; Connors, Craig T; Mohammed, Arooj S; Sarmah, Swapnalee; Marrs, Kathleen; Marrs, James A; Chism, Grady W
Prenatal ethanol exposure causes the most frequent preventable birth disorder, fetal alcohol spectrum disorder (FASD). The effect of turmeric extracts in rescuing an ethanol-induced developmental defect using zebrafish as a model was determined. Ethanol-induced oxidative stress is one of the major mechanisms underlying FASD. We hypothesize that antioxidant inducing properties of turmeric may alleviate ethanol-induced defects. Curcuminoid content of the turmeric powder extract (5 mg/mL turmeric in ethanol) was determined by UPLC and found to contain Curcumin (124.1 ± 0.2 μg/mL), Desmethoxycurcumin (43.4 ± 0.1 μg/mL), and Bisdemethoxycurcumin (36.6 ± 0.1 μg/mL). Zebrafish embryos were treated with 100 mM (0.6% v/v) ethanol during gastrulation through organogenesis (2 to 48 h postfertilization (hpf)) and supplemented with turmeric extract to obtain total curcuminoid concentrations of 0, 1.16, 1.72, or 2.32 μM. Turmeric supplementation showed significant rescue of the body length at 72 hpf compared to ethanol-treated embryos. The mechanism underlying the rescue remains to be determined. © 2017 Institute of Food Technologists®.
Kakebeeke, Tanja H; Egloff, Kristin; Caflisch, Jon; Chaouch, Aziz; Rousson, Valentin; Largo, Remo H; Jenni, Oskar G
An established tool for the assessment of motor performance in children with developmental coordination disorder (DCD) is the Movement-ABC-2 (M-ABC-2). The Zurich Neuromotor Assessment (ZNA) is also widely used for the evaluation of children's motor performance, but has not been compared with the M-ABC-2. Fifty-one children (39 males) between 5 and 7 years of age with suspected DCD were assessed using the M-ABC-2 and the ZNA. Rank correlations between scores of different test components were calculated. The structure of the tests was explored using canonical-correlation analysis. The correlation between total scores of the two motor tests was reasonable (0.66; pABC-2, due to poor performance in the fine motor adaptive component and increased contralateral associated movements (CAM). The canonical-correlation analysis revealed that ZNA measures components like pure motor skills and CAM that are not represented in the M-ABC-2. Furthermore, there was also no equivalent for the aiming and catching items of the M-ABC-2 in ZNA. The two tests measure different motor characteristics in children with suspected DCD and, thus, can be used complementary for the diagnosis of the disorder. Copyright © 2014. Published by Elsevier Ltd.
Armstrong, Linlea; Jimenez, Carmencita; Hunter, Alasdair G W
We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa. Copyright 2003 Wiley-Liss, Inc.