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.
Horváth, Emese; Nagy, Nikoletta; Széll, Márta
In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement. The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases. During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic tests were considered. During post-test genetic counselling, the results of the genetic tests were discussed. In three of the five cases genetic tests identified the disease-causing genetic abnormalities, while in two cases the causative abnormalities were not identified. Despite a great improvement of the available genetic methods, the causative genetic abnormalities cannot be identified in some cases. The genetic counsellor has a key role in the assessment and interpretation of the results and in helping the family planning.
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.
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 par...
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.
Gipson, Tanjala T; Johnston, Michael V
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. Pubmed and Clinicaltrials.gov were searched using specific search strategies. 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.
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.
This article reviews the relationship between developmental disorders and dementia with ageing. Persons with autistic spectrum disorder (ASD) are vulnerable to life events, even in their old age. In certain cases, senile persons with undiagnosed ASD, who developed maladaptive behaviors after negative life events, were considered as having a behavioral variant of frontotemporal dementia (bvFTD). However, to our knowledge, there are no reports on the relationships between ASD and bvFTD. Alternatively, there are only a limited number of reports, which address the relationships between developmental disorders and dementia. One such relationship is that in patients with dementia with Lewy bodies (DLB) and those with Parkinson's disease (PD), who also show a tendency for having attention-deficit/hyperactivity disorder (ADHD) at a younger age. Another such relationship is seen in patients with primary progressive aphasia (PPA) who show a high occurrence of learning disability (LD) among their first-degree relatives. These results imply that the neurotransmitter pathway or language network in the brain is vulnerable in some subjects. These retrospective studies have demonstrated a possible relationship between developmental disorders and dementia; however, no study has shown a causality of developmental disorders and dementia.
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.
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.
Thomas, Michael S. C.; Annaz, Dagmara; Ansari, Daniel; Scerif, Gaia; Jarrold, Chris; Karmiloff-Smith, Annette
Purpose: In this article, the authors present a tutorial on the use of developmental trajectories for studying language and cognitive impairments in developmental disorders and compare this method with the use of matching. Method: The authors assess the strengths, limitations, and practical implications of each method. The contrast between the…
Mengucci Julie F
Full Text Available Abstract Background Attention Deficit Hyperactivity Disorder, commonly referred to as ADHD, is a common, complex, predominately genetic but highly treatable disorder, which in its more severe form has such a profound effect on brain function that every aspect of the life of an affected individual may be permanently compromised. Despite the broad base of scientific investigation over the past 50 years supporting this statement, there are still many misconceptions about ADHD. These include believing the disorder does not exist, that all children have symptoms of ADHD, that if it does exist it is grossly over-diagnosed and over-treated, and that the treatment is dangerous and leads to a propensity to drug addiction. Since most misconceptions contain elements of truth, where does the reality lie? Results We have reviewed the literature to evaluate some of the claims and counter-claims. The evidence suggests that ADHD is primarily a polygenic disorder involving at least 50 genes, including those encoding enzymes of neurotransmitter metabolism, neurotransmitter transporters and receptors. Because of its polygenic nature, ADHD is often accompanied by other behavioral abnormalities. It is present in adults as well as children, but in itself it does not necessarily impair function in adult life; associated disorders, however, may do so. A range of treatment options is reviewed and the mechanisms responsible for the efficacy of standard drug treatments are considered. Conclusion The genes so far implicated in ADHD account for only part of the total picture. Identification of the remaining genes and characterization of their interactions is likely to establish ADHD firmly as a biological disorder and to lead to better methods of diagnosis and treatment.
J Gordon Millichap
Full Text Available The relationship between patients with attention deficit hyperactivity disorder (ADHD and those with pervasive developmental disorders (PDD was studied at Okayama University Graduate School of Medicine, Japan.
Xu, Xiaoxiao; Wells, Alan B; O'Brien, David R; Nehorai, Arye; Dougherty, Joseph D
Recent advances have substantially increased the number of genes that are statistically associated with complex genetic disorders of the CNS such as autism and schizophrenia. It is now clear that there will likely be hundreds of distinct loci contributing to these disorders, underscoring a remarkable genetic heterogeneity. It is unclear whether this genetic heterogeneity indicates an equal heterogeneity of cellular mechanisms for these diseases. The commonality of symptoms across patients suggests there could be a functional convergence downstream of these loci upon a limited number of cell types or circuits that mediate the affected behaviors. One possible mechanism for this convergence would be the selective expression of at least a subset of these genes in the cell types that comprise these circuits. Using profiling data from mice and humans, we have developed and validated an approach, cell type-specific expression analysis, for identifying candidate cell populations likely to be disrupted across sets of patients with distinct genetic lesions. Using human genetics data and postmortem gene expression data, our approach can correctly identify the cell types for disorders of known cellular etiology, including narcolepsy and retinopathies. Applying this approach to autism, a disease where the cellular mechanism is unclear, indicates there may be multiple cellular routes to this disorder. Our approach may be useful for identifying common cellular mechanisms arising from distinct genetic lesions.
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
Tarter, Ralph E.; Vanyukov, Michael
Alcoholism etiology is discussed from developmental behavior genetic perspective. Temperament features that appear to be associated with heightened risk for alcoholism are examined. Their interactions with the environment during course of development are considered within epigenetic framework and, as discussed, have ramifications for improving…
This article reviews the results of 43 studies published since 1966 that provided estimates for the prevalence of pervasive developmental disorders (PDDs), including autistic disorder, Asperger disorder, PDD not otherwise specified, and childhood disintegrative disorder. The prevalence of autistic disorder has increased in recent surveys and current estimates of prevalence are around 20/10,000, whereas the prevalence for PDD not otherwise specified is around 30/10,000 in recent surveys. Prevalence of Asperger disorder is much lower than that for autistic disorder and childhood disintegrative disorder is a very rare disorder with a prevalence of about 2/100,000. Combined all together, recent studies that have examined the whole spectrum of PDDs have consistently provided estimates in the 60-70/10,000 range, making PDD one of the most frequent childhood neurodevelopmental disorders. The meaning of the increase in prevalence in recent decades is reviewed. There is evidence that the broadening of the concept, the expansion of diagnostic criteria, the development of services, and improved awareness of the condition have played a major role in explaining this increase, although it cannot be ruled out that other factors might have also contributed to that trend.
Williams, David M.; Lind, Sophie E.
This chapter explores two main themes in two separate sections. The first section explores some of the challenges involved in the diagnosis of complex developmental disorders such as specific language impairment (SLI), developmental dyslexia, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder (ASD). The second section of the chapter will consider the issue of co-morbidity between developmental disorders, and discuss the various models that have been proposed to expl...
Full Text Available Several factors contribute to scholastic backwardness in children. Causes include specific developmental disorders of scholastic skills, low intelligence, chronic illnesses, family dysfunction, social problems, attention deficits, and emotional disorders. Children with specific developmental disorders of scholastic skills experience significant impairment in the acquisition of reading, writing and mathematical skills. If not remedied at the earliest, these children are at risk of developing severe stress related disorders. There is high comorbidity of behaviour disorders and emotional disorders in these children. Hence early intensive remedial education is essential in the management of children with specific developmental disorders of scholastic skills.
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
... and specific learning disorder are the common developmental disorders seen in children. The key interventions for the management of developmental disorders in children are parent training interventions...
Alloway, Tracy Packiam; Rajendran, Gnanathusharan; Archibald, Lisa M. D.
The aim of the present study was to directly compare working memory skills across students with different developmental disorders to investigate whether the uniqueness of their diagnosis would impact memory skills. The authors report findings confirming differential memory profiles on the basis of the following developmental disorders: Specific…
Parisse, Christophe; Maillart, Christelle
International audience; Specific Language Impairment (SLI) is a disorder characterised by slow, abnormal language development.Most children with this disorder do not present any other cognitive or neurological deficits. Thereare many different pathological developmental profiles and switches from one profile to another oftenoccur. An alternative would be to consider SLI as a generic name covering three developmental languagedisorders: developmental verbal dyspraxia, linguistic dysphasia, and ...
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.
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.
Anas M. Alazami
Full Text Available Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS. We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.
The development of static balance is a basic characteristic of normal motor development. Most of the developmental motor tests include a measure of static balance. Children with a developmental coordination disorder (DCD) often fail this item. Twenty-four children at risk for DCD with balance
Peters, Lieke H. J.; Maathuis, Carel G. B.; Hadders-Algra, Mijna
AIM To review neuroimaging studies in children with developmental coordination disorder (DCD) systematically. Because only a few studies addressed this, we broadened our search and included neuroimaging studies in children with perinatal adversities and motor impairment without cerebral palsy.
Reiss, Allan L
Significant advances in understanding brain development and behavior have not been accompanied by revisions of traditional academic structure. Disciplinary isolation and a lack of meaningful interdisciplinary opportunities are persistent barriers in academic medicine. To enhance clinical practice, research, and training for the next generation, academic centers will need to take bold steps that challenge traditional departmental boundaries. Such change is not only desirable but, in fact, necessary to bring about a truly innovative and more effective approach to treating disorders of the developing brain. I focus on developmental disorders as a convergence point for transcending traditional academic boundaries. First, the current taxonomy of developmental disorders is described with emphasis on how current diagnostic systems inadvertently hinder research progress. Second, I describe the clinical features of autism, a phenomenologically defined condition, and Rett and fragile X syndromes, neurogenetic diseases that are risk factors for autism. Finally, I describe how the fields of psychiatry, psychology, neurology, and pediatrics now have an unprecedented opportunity to promote an interdisciplinary approach to training, research, and clinical practice and, thus, advance a deeper understanding of developmental disorders. Research focused on autism is increasingly demonstrating the heterogeneity of individuals diagnosed by DSM criteria. This heterogeneity hinders the ability of investigators to replicate research results as well as progress towards more effective, etiology-specific interventions. In contrast, fragile X and Rett syndromes are 'real' diseases for which advances in research are rapidly accelerating towards more disease-specific human treatment trials. A major paradigm shift is required to improve our ability to diagnose and treat individuals with developmental disorders. This paradigm shift must take place at all levels - training, research and clinical
Childhood developmental disorders cause significant negative impact on the physical, intellectual and social-emotional development of an individual. Developmental disorders are common in pediatric practice and these children are more likely to have comorbid behavioral disorders than their typically developing counterparts. They are also at greater risk for academic stress due to scholastic backwardness. Intellectual developmental disorders, communication disorders, autism spectrum disorder an...
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
Duffy, Anne; Horrocks, Julie; Doucette, Sarah; Keown-Stoneman, Charles; McCloskey, Shannon; Grof, Paul
Bipolar disorder is highly heritable and therefore longitudinal observation of children of affected parents is important to mapping the early natural history. To model the developmental trajectory of bipolar disorder based on the latest findings from an ongoing prospective study of the offspring of parents with well-characterised bipolar disorder. A total of 229 offspring from families in which 1 parent had confirmed bipolar disorder and 86 control offspring were prospectively studied for up to 16 years. High-risk offspring were divided into subgroups based on the parental long-term response to lithium. Offspring were clinically assessed and DSM-IV diagnoses determined on masked consensus review using best estimate procedure. Adjusted survival analysis and generalised estimating equations were used to calculate differences in lifetime psychopathology. Multistate models were used to examine the progression through proposed clinical stages. High-risk offspring had an increased lifetime risk of a broad spectrum of disorders including bipolar disorder (hazard ratio (HR) = 20.89; P = 0.04), major depressive disorder (HR = 17.16; P = 0.004), anxiety (HR = 2.20; P = 0.03), sleep (HR = 28.21; P = 0.02) and substance use disorders (HR = 2.60; P = 0.05) compared with controls. However, only offspring from lithium non-responsive parents developed psychotic disorders. Childhood anxiety disorder predicted an increased risk of major mood disorder and evidence supported a progressive transition through clinical stages, from non-specific psychopathology to depressive and then manic or psychotic episodes. Findings underscore the importance of a developmental approach in conjunction with an appreciation of familial risk to facilitate earlier accurate diagnosis in symptomatic youth.
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.
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.
Goodman, Marianne; Patel, Uday; Oakes, Allison; Matho, Andrea; Triebwasser, Joseph
Due to the higher diagnostic prevalence of borderline personality disorder (BPD) in females, there exists a dearth of literature on the manifestations of BPD in men and minimal information on male developmental trajectories to the disorder. To identify precursors of BPD in males, surveys were administered to parents about their BPD male offspring and non-BPD male siblings. Questions covered aspects of probands' lives from infancy to late adolescence. BPD offspring were identified through self-reported clinical diagnoses and standardized diagnostic criteria embedded within the survey. A total of 263 male offspring (97 meeting strict criteria for BPD and 166 non-BPD siblings) were studied. The authors found that parents describe the early emergence of a constellation of symptoms in their BPD sons that include separation anxiety starting in infancy, body image concerns in childhood, and impulsivity, emptiness, and odd thinking in adolescence. This trajectory differs from the developmental course found in females diagnosed with BPD.
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
Mašek, Jan; Andersson, Emma R
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome. Furthermore, structure-abrogating mutations in NOTCH3 result in CADASIL. Here, we discuss these human congenital disorders in the context of known roles for Notch signaling during development. Drawing on recent analyses by the exome aggregation consortium (EXAC) and on recent studies of Notch signaling in model organisms, we further highlight additional Notch receptors or ligands that are likely to be involved in human genetic diseases. © 2017. Published by The Company of Biologists Ltd.
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...
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.
Full Text Available Ecosystem resilience theory permits novel exploration of developmental psychiatric and chronic physical disorders. Structured psychosocial stress, and similar noxious exposures, can write distorted images of themselves onto child growth, and, if sufficiently powerful, adult development as well, initiating a punctuated life course trajectory to characteristic forms of comorbid mind/body dysfunction. For an individual, within the linked network of broadly cognitive psysiological and mental subsystems, this occurs in a manner almost exactly similar to resilience domain shifts affecting a stressed ecosystem, suggesting that reversal or palliation may often be exceedingly difficult. Thus resilience theory may contribute significant new perspectives to the understanding, remediation, and prevention, of these debilitating conditions.
King, Wayne M; Lombardino, Linda J; Crandell, Carl C; Leonard, Christiana M
The primary objective of this study was to investigate the extent of comorbid auditory processing disorder (APD) in a group of adults with developmental dyslexia. An additional objective was to compare performance on auditory tasks to results from standardized tests of reading in an attempt to generate a clinically useful profile of developmental dyslexics with comorbid APD. A group of eleven persons with developmental dyslexia and 14 age- and intelligence-matched controls participated in the study. Behavioral audiograms, 226-Hz tympanograms, and word recognition scores were obtained binaurally from all subjects. Both groups were administered the frequency-pattern test (FPT) and duration-pattern test (DPT) monaurally (30 items per ear) in both the left and right ear. Gap detection results were obtained in both groups (binaural presentation) using narrowband noise centered at 1 kHz in an adaptive two-alternative forced-choice (2-AFC) paradigm. The FPT, DPT, and gap detection results were analyzed for interaural (where applicable), intergroup, and intragroup differences. Correlations between performance on the auditory tasks and the standardized tests of reading were examined. Additive logistic regression models were fit to the data to determine which auditory tests proved to be the best predictors of group membership. The persons with developmental dyslexia as a group performed significantly poorer than controls on both the FPT and DPT. Furthermore, the group differences were significant in both monaural conditions. On the FPT and DPT, five of the eleven participants with dyslexia performed below the widely used clinical criterion for APD of 70% correct in either ear. All five of these participants performed below criterion on the FPT, whereas four of the five additionally performed below 70% on the DPT. The data also were analyzed by fitting a series of stepwise logistic regression models, which indicated that gap detection did not significantly predict group
Lahuis, Bertine E.; Van Engeland, Herman; Cahn, Wiepke; Caspers, Esther; Van der Geest, Jos N.; Van der Gaag, Rutger Jan; Kemner, Chantal
Objective. Multiple complex developmental disorder (MCDD) is a well-defined and validated behavioural subtype of pervasive developmental disorder-not otherwise specified (PDD-NOS) and is thought to be associated with a higher risk of developing a schizophrenic spectrum disorder. The question was
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
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.
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...
Visscher, Chris; Houwen, Suzanne; Scherder, Erik J. A.; Moolenaar, Ben; Hartman, Esther
OBJECTIVES. The purpose of this study was to investigate the motor profile of 125 children with developmental speech and language disorders and to test for differences, if any, in motor profile among subgroups of children with developmental speech and language disorders. METHODS. The participants
Johnston, Michael V
Developmental neuroscience is increasingly relevant to clinical child neurology, and study of advances in neurobiology, neurochemistry and neurogenetics should be part of the curriculum of residency training. The profile of synaptic development is especially relevant to neurodevelopmental disorders such as autism, Fragile X syndrome, and early epileptic encephalopathies. This knowledge is increasingly being translated into therapies for previously untreatable disorders. Copyright © 2011 Elsevier Inc. All rights reserved.
Girardot, A-M; De Martino, S; Chatel, C; Da Fonseca, D; Rey, V; Poinso, F
This study investigated the cognitive skills in pervasive developmental disorders (PDD). Two groups of children participated in this study, 39 individuals with autism and 18 individuals with Asperger syndrome. Each participant was assessed by the Wechsler scales: WPPSI-III, WISC-III or WISC-IV. Children with Asperger syndrome have VIQ more than PIQ and the children with autism have VIQ less than PIQ. The performances in "block design" task vary according to the cognitive level and not according to the PDD type. The high-functioning autistic children show high performance in "block design" task. Children with Asperger syndrome revealed impairments in the "understanding of social situations" task. Individuals with autism have a verbal intelligence quotient lower than individuals with an Asperger syndrome. Several hypotheses have tried to explain verbal differences between children with autism and Asperger syndrome. A first hypothesis proposed a developmental convergence between these two groups. A second hypothesis suggested that communication and social interaction impairments could be implicated in verbal skills. A third hypothesis supported that individuals with Asperger syndrome could develop a specific cognitive style. Children with autism have spatial and perceptive capacities better than verbal capacities. These performances could be interpreted as the expression of a specific cognitive style based on the visual analysis of the detail. The low-functioning children with autism have a cognitive profile with PIQ more than VIQ and high skills in spatial organization. The high-level children with autism have a cognitive profile with PIQ more than VIQ and high skills in spatial abstraction. Children with Asperger syndrome have a profile VIQ more than PIQ profile, they are particularly good in verbal learning notably vocabulary. Copyright © 2012 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.
Deckert, J.; Weber, H.; Villmann, C.; Lonsdorf, T.B.; Richter, J.; Andreatta, M.; Arias-Vasquez, A.; Hommers, L.; Kent, L.; Schartner, C.; Cichon, S.; Wolf, C.; Schaefer, N.; Collenberg, C.R. von; Wachter, B. de; Blum, R.; Schumann, D.; Scharfenort, R.; Schumacher, J.; Forstner, A.J.; Baumann, C.; Schiele, M.A.; Notzon, S.; Zwanzger, P.; Janzing, J.G.; Galesloot, T.E.; Kiemeney, L.A.L.M.; Gajewska, A.; Glotzbach-Schoon, E.; Muhlberger, A.; Alpers, G.; Fydrich, T.; Fehm, L.; Gerlach, A.L.; Kircher, T.; Lang, T.; Strohle, A.; Arolt, V.; Wittchen, H.U.; Kalisch, R.; Buchel, C.; Hamm, A.; Nothen, M.M.; Romanos, M.; Domschke, K.; Pauli, P.; Reif, A.
The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition
Full Text Available The authors propose a fundamentally new, theoretically grounded and empirically supported approach to psycho-pedagogical diagnostics of developmental disorders. It is shown that in Russia psychological diagnostics of developmental disorders still has no proper theoretical foundations and is carried out rather intuitively and empirically, even on the stage of differential diagnosis. The situation abroad is quite similar despite the use of standardized intelligence tests as they can only measure quantitative differences in subjects’ performance. The authors emphasize core components of cognitive activity different correlation of which determines the differences between various types of intellectual disorders that are similar in presentation. The proposed approach allows us to fully use the relevant characteristics of different types of developmental disorders. Features of the dynamics of cognitive activity, which are identified in observations and ignored in testing, significantly complement the psychological characteristics of developmental disorders.
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)
Bishop, Somer L; Farmer, Cristan; Bal, Vanessa; Robinson, Elise B; Willsey, A Jeremy; Werling, Donna M; Havdahl, Karoline Alexandra; Sanders, Stephan J; Thurm, Audrey
Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci. Analyses preemptively accounted for documented differences in sex and IQ in affected individuals with de novo mutations by matching probands with and without these genetic events on sex, IQ, and age before comparing them on multiple behavioral domains. Children with de novo mutations (N=112) had a greater likelihood of motor delay during early development (later age at walking), but they were less impaired on certain measures of ASD core symptoms (parent-rated social communication abnormalities and clinician-rated diagnostic certainty about ASD) in later childhood. These children also showed relative strengths in verbal and language abilities, including a smaller discrepancy between nonverbal and verbal IQ and a greater likelihood of having achieved fluent language (i.e., regular use of complex sentences). Children with ASD with de novo mutations may exhibit a "muted" symptom profile with respect to social communication and language deficits relative to those with ASD with no identified genetic abnormalities. Such findings suggest that examining early milestone differences and standardized testing results may be helpful in etiologic efforts, and potentially in clinical differentiation of various subtypes of ASD, but only if developmental and demographic variables are properly accounted for first.
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…
Naber, Fabienne B. A.; Swinkels, Sophie H. N.; Buitelaar, Jan K.; Bakermans-Kranenburg, Marian J.; van IJzendoorn, Marinus H.; Dietz, Claudine; van Daalen, Emma; van Engeland, Herman
Attachment was assessed in toddlers with Autistic Disorder (n = 20), Pervasive Developmental Disorder (n = 14), Mental Retardation (n = 12), Language Development Disorder (n = 16), and a non-clinical comparison group (n = 18), using the Strange Situation Procedure (SSP). Children in the clinical groups were more often disorganized and less often…
Tsai, Luke Y.
This paper reviews whether Rett syndrome is a subtype of pervasive developmental disorders (PDD). The paper analyzes internal and external diagnostic validity and discusses whether Rett syndrome is a neurological disorder or a mental disorder. The paper concludes that data support the idea of classifying Rett syndrome as a subtype of PDD.…
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.
Deckert, J; Weber, H; Villmann, C; Lonsdorf, T B; Richter, J; Andreatta, M; Arias-Vasquez, A; Hommers, L; Kent, L; Schartner, C; Cichon, S; Wolf, C; Schaefer, N; von Collenberg, C R; Wachter, B; Blum, R; Schümann, D; Scharfenort, R; Schumacher, J; Forstner, A J; Baumann, C; Schiele, M A; Notzon, S; Zwanzger, P; Janzing, J G E; Galesloot, T; Kiemeney, L A; Gajewska, A; Glotzbach-Schoon, E; Mühlberger, A; Alpers, G; Fydrich, T; Fehm, L; Gerlach, A L; Kircher, T; Lang, T; Ströhle, A; Arolt, V; Wittchen, H-U; Kalisch, R; Büchel, C; Hamm, A; Nöthen, M M; Romanos, M; Domschke, K; Pauli, P; Reif, A
The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 × 10(-8); rs191260602, P=3.9 × 10(-8)). We followed up on this finding in a larger dimensional ACQ sample (N=2547) and in independent samples with a dichotomous AG phenotype based on the Symptoms Checklist (SCL-90; N=3845) and a case-control sample with the categorical phenotype PD/AG (Ncombined =1012) obtaining highly significant P-values also for GLRB single-nucleotide variants rs17035816 (P=3.8 × 10(-4)) and rs7688285 (P=7.6 × 10(-5)). GLRB gene expression was found to be modulated by rs7688285 in brain tissue, as well as cell culture. Analyses of intermediate PD/AG phenotypes demonstrated increased startle reflex and increased fear network, as well as general sensory activation by GLRB risk gene variants rs78726293, rs191260602, rs17035816 and rs7688285. Partial Glrb knockout mice demonstrated an agoraphobic phenotype. In conjunction with the clinical observation that rare coding GLRB gene mutations are associated with the neurological disorder hyperekplexia characterized by a generalized startle reaction and agoraphobic behavior, our data provide evidence that non-coding, although functional GLRB gene polymorphisms may predispose to PD by increasing startle response and agoraphobic cognitions.
Halayem, S; Bouden, A; Halayem, M B; Tabbane, K; Amado, I; Krebs, M O
Many studies have focused on specific motor signs in autism and Asperger's syndrome, but few has been published on the complete range of neurological soft signs (NSS) in children with pervasive developmental disorder (PDD). Scarce are the studies evaluating NSS in children suffering from PDD not otherwise specified (PDDNOS). This study compared performance of 11 autistic children (AD) and 10 children with PDDNOS, with controls matched on age, sex and cognitive performance on Krebs et al.'s NSS scale. Because of the duration of the assessments and specific difficulties encountered in managing some items, an adaptation of the scale had to be made during a pilot study with the agreement of the author. To be eligible, patients had to meet the following inclusion criteria: an age range of 6-16 years, a diagnosis of autistic disorder or PDDNOS based on the DSM IV criteria (American Psychiatric Association 1994). The autism diagnostic interview-revised (ADI-R) was used in order to confirm the diagnosis and to evaluate the association of the symptoms to the severity of the NSS. The childhood autism rating scale (CARS) was completed for the patients in order to evaluate symptoms at the time of the NSS examination. Cognitive ability was assessed with Raven's progressive matrices. Were excluded patients with: history of cerebral palsy, congenital anomaly of the central nervous system, epilepsy, known genetic syndrome, tuberous sclerosis, neurofibromatosis, antecedent of severe head trauma, Asperger's syndrome, obvious physical deformities or sensory deficits that would interfere with neurological assessment, deep mental retardation and recent or chronic substance use or abuse. Healthy controls shared the same exclusion criteria, with no personal history of neurological, psychiatric disorder or substance abuse, no family history of psychiatric disorder and normal or retardation in schooling. All study procedures were approved by the local Ethics Committee (Comité d
Rakhlin, Natalia; Cardoso-Martins, Cláudia; Kornilov, Sergey A.; Grigorenko, Elena L.
The goal of the study was to investigate the overlap between developmental language disorder (DLD) and developmental dyslexia, identified through spelling difficulties (SD), in Russian-speaking children. In particular, we studied the role of phoneme awareness (PA), rapid automatized naming (RAN), pseudoword repetition (PWR), morphological (MA),…
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
Balkom, L.J.M. van; Deckers, S.R.J.M.; Stoep, J.M.G.M.; Segers, E.; Broek, P. van den
This chapter discusses the Communicative Competence Profile (CCP); a socio-neurocognitive assessment method which provides a reasoning and explanatory model to guide clinical decision making for goal setting in intervention on communicative competence for children with severe developmental disorders
Poddar, Shuvabrata; Hameed, Noufal T; Pandey, Jyoti Mishra; Mitra, Sayantanava; Mukherjee, Urbi
Pervasive developmental disorders (PDDs) are characterized by several impairments in the domains of social communication, social interaction and expression of social attachment, and other aspects of development like symbolic play...
Arendt, Thomas; Stieler, Jens; Ueberham, Uwe
Alzheimer's disease (AD) is a neurodegenerative disorder of higher age that specifically occurs in human. Its clinical phase, characterized by a decline in physiological, psychological, and social functioning, is preceded by a long clinically silent phase of at least several decades that might perhaps even start very early in life. Overall, key functional abilities in AD patients decline in reverse order of the development of these abilities during normal childhood and adolescence. Early symptoms of AD, thus, typically affect mental functions that have been acquired only during very recent hominid evolution and as such are specific to human. Neurofibrillar degeneration, a typical neuropathological lesion of the disease and one of the most robust pathological correlates of cognitive impairment, is rarely seen in non-primate mammals and even non-human primates hardly develop a pathology comparable to those seen in AD patients. Neurofibrillar degeneration is not randomly distributed throughout the AD brain. It preferentially affects brain areas that become increasingly predominant during the evolutionary process of encephalization. During progression of the disease, it affects cortical areas in a stereotypic sequence that inversely recapitulates ontogenetic brain development. The specific distribution of cortical pathology in AD, moreover, appears to be determined by the modular organization of the cerebral cortex which basically is a structural reflection of its ontogeny. Here, we summarize recent evidence that phylogenetic and ontogenetic dimensions of brain structure and function provide the key to our understanding of AD. More recent molecular biological studies of the potential pathogenetic role of a genomic mosaic in the brains of patients with AD might even provide arguments for a developmental origin of AD. This article is part of a series "Beyond Amyloid". © 2017 International Society for Neurochemistry.
Lenoir, P; Bodier, C; Desombre, H; Malvy, J; Abert, B; Ould Taleb, M; Sauvage, D
Estimates of the prevalence of autism and pervasive developmental disorders (PDD) are discordant and are moving towards an apparent increase in rates. The studies carried out since 1966 illustrate the variability of the protocols used and explanatory hypotheses put forward. These investigations are difficult, sparse, but still growing at the same time that a debate develops on the possible increase in actual prevalence. Indeed, the rate initially admitted for classic autism was 5/10,000, then 1/1000 with an expanded definition to the forms, but the current figures are very different (almost 0.7% for all PDD), and this increase raises questions. The arguments in favour of an apparent increase are primarily methodological. Several biases are encountered when one compares the recent publications with those of previous years. First, autism is better known and recognized than 30 or 40 years ago. Then, the diagnostic criteria used over time are changing variables, and comparisons difficult. Recent studies using the criteria of a broader definition of autism, polyhandicap with severe retardation and autism signs of lighter forms. The fact that children with autism are diagnosed more frequently in the younger age could also occasionally lead to an artificial increase in the number of cases identified in new surveys in populations of young children. Other factors are cited to explain the current increase. There could be higher rates of autism (and mental retardation) among children of migrants from distant countries, with the aetiological hypothesis of maternal infections, more frequent due to immune deficiency against infectious agents depending on the environment, metabolic decompensations also related to changes in surroundings, or more births from unions among migrant mothers and men with Asperger syndrome (with increased risk of paternity of a child with autism). Other theories relate to pollution, vaccinations, a growing number of premature babies; all assumptions
This study describes the development and evaluation of the Developmental Disorder Parenting Stressor Index (DDPSI). The DDPSI items were developed from a questionnaire survey of mothers (N = 255) of children with developmental disorders. A factor analysis identified four factors: (a) difficulty understanding the child and coping with the child's needs, (b) anxiety about the child's future and independence, (c) inadequate understanding of the child's disorder, and (d) conflicting emotions with regard to the child's disorder. These factors had high degrees of internal consistency. The concurrent validity of the DDPSI was examined. The DDPSI scores significantly correlated with the Stress Response Scale-18 and the Handicapped Child Parenting Stress Scale. The results of structural equation modeling analysis suggested that social support for the mothers mitigated the stressors' effect and reduced their psychological stress responses. The DDPSI is sufficiently reliable and valid to measure the stressors of parents of children with developmental disorders.
Akins, Roger S; Krakowiak, Paula; Angkustsiri, Kathleen; Hertz-Picciotto, Irva; Hansen, Robin L
To compare the utilization of conventional treatments and utilization of complementary and alternative medicine in preschoolers with autism spectrum disorders (ASD) and other developmental disabilities (DD). Participants were 578 children who were part of an ongoing population-based, case-control study of 2- to 5-year olds with ASD, DD, and the general population. Parents completed an interview on past and current services. Four hundred fifty-three children with ASD and 125 DD children were included. ASD families received more hours of conventional services compared with DD families (17.8 vs 11; p ASD (39%) versus DD (30%). Hispanic families in both groups used CAM less often than non-Hispanic families. Variables such as level of function, immunization status, and the presence of an identified neurogenetic disorder were not predictive of CAM use. A higher level of parental education was associated with an increased CAM use in ASD and DD. Families who used >20 hours per week of conventional services were more likely to use CAM, including potentially unsafe or disproven CAM. Underimmunized children were marginally more likely to use CAM but not more likely to have received potentially unsafe or disproven CAM. Use of CAM is common in families of young children with neurodevelopmental disorders, and it is predicted by higher parental education and non-Hispanic ethnicity but not developmental characteristics. Further research should address how health care providers can support families in making decisions about CAM use.
Lebrun, Yvan; Van De Craen, Piet
Examination of children with developmental dsygraphia (inability to write) suggests the need to instruct young children in the basic principles of the writing process including phonemic analysis, transcription rules, morphemic analysis, script, and style. (DB)
Kwon, Yung-Keun; Moon, Byung-Ro
In this paper, we propose a hybrid neurogenetic system for stock trading. A recurrent neural network (NN) having one hidden layer is used for the prediction model. The input features are generated from a number of technical indicators being used by financial experts. The genetic algorithm (GA) optimizes the NN's weights under a 2-D encoding and crossover. We devised a context-based ensemble method of NNs which dynamically changes on the basis of the test day's context. To reduce the time in processing mass data, we parallelized the GA on a Linux cluster system using message passing interface. We tested the proposed method with 36 companies in NYSE and NASDAQ for 13 years from 1992 to 2004. The neurogenetic hybrid showed notable improvement on the average over the buy-and-hold strategy and the context-based ensemble further improved the results. We also observed that some companies were more predictable than others, which implies that the proposed neurogenetic hybrid can be used for financial portfolio construction.
Soheir S. AboElella
Mar 7, 2015 ... Aim of the study include clinical assessment of children with disorders of .... determining methods for communication and follow up. 246. S.S. AboElella .... 11. 1 day. 1 day. 4th. 36. 40. +ve. Similar condition in his elder brother. 12. 1 yr. 3 wk. 1st. 20. 25. Аve. Molecular study of developmental sex disorders in.
Schlooz, W.A.; Hulstijn, W.; Broek, P.J.J.A. van den; Pijll, A.C.A.M. van der; Gabreëls, F.J.M.; Gaag, R.J. van der; Rotteveel, J.J.
Children diagnosed with Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) and Asperger Syndrome (AS) may be characterised by a similar perceptual focus on details as children with autistic disorder (AD). This was tested by analysing their performance in a visuoperceptual task [the
Ali G. Hamedani
Full Text Available Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid dysfunction can also be a distinguishing feature of neurodegenerative disease and complements eye movement abnormalities in helping us to understand their pathophysiology. In this review, we summarize the various eyelid abnormalities that can occur in neurodegenerative, neurogenetic, and neurometabolic diseases. We discuss eyelid disorders, such as ptosis, eyelid retraction, abnormal spontaneous and reflexive blinking, blepharospasm, and eyelid apraxia in the context of the neuroanatomic pathways that are affected. We also review the literature regarding the prevalence of eyelid abnormalities in different neurologic diseases as well as treatment strategies (Table 1.
Kavanagh, James F.; Yeni-Komshian, Grace
The 8-chapter booklet gives an overview of what is known and what remains to be known about developmental dyslexia. Chapter 1 defines the scope of reading problems in general, while chapter 2 defines dyslexia-"children who have difficulty learning to read, for no apparent reason". Chapter 4 outlines the normal reading process. Possible causes for…
Taurines, Regina; Schmitt, Jochen; Renner, Tobias; Conner, Alex Curtis; Warnke, Andreas; Romanos, Marcel
With the present review, we intend to highlight the importance of considering the age- and development-dependent occurrence of comorbidity in ADHD and to outline distinct trajectories of symptom progression with possible impact on course and outcome of ADHD. The review will focus on introducing the concepts of "developmental epidemiology" and "developmental comorbidity". Psychiatric and non-psychiatric age-dependent comorbidity can be seen in the majority of children, adolescents and adults with ADHD, resulting in a severe impairment of everyday life with considerable functional and psychosocial problems. Concerning the temporal order of occurrence, psychiatric conditions may be present before the appearance of first definite ADHD symptoms ("pre-comorbidity", such as temperament factors, sleep disturbance, autism spectrum disorders and atopic eczema). They may coincide with the time when ADHD symptoms reach a clinically significant level ("simultaneous comorbidity": enuresis, encopresis, developmental dyslexia). The majority of comorbidity, however, appears after the onset of ADHD in the course of disease ("post-comorbidity": tic disorder, depression and suicidality, anxiety disorders, obsessive compulsive disorder, bipolar disorder, conduct and substance use disorders, obesity and personality disorders). The aetio-pathophysiology of ADHD and its comorbid disorders and also the nature of comorbidity itself being highly heterogeneous, we additionally discuss possible models of comorbidity. In the future, longitudinal data on distinct patterns of symptom and comorbidity progression would help to refine disease classification systems, strengthen the power of future genetic studies and finally allow for more specific treatment strategies.
Passos,Ives C.; Jansen, Karen; Kapczinski,Flavio
The previous contribution of Duffy and colleagues suggests that a chain of behavioral events starting during childhood precedes the development of full-blown bipolar disorder. In this vein, the recent contribution of Keown-Stoneman and colleagues brings a new perspective to the study of prodromal symptoms of bipolar disorder.
Anthony James Barkovich
Full Text Available Malformations of the midbrain and hindbrain have become topics of considerable interest in the neurology and neuroscience literature in recent years. The combined advances of imaging, and molecular biology have improved analyses of structures in these areas of the central nervous system, while advances in genetics have made it clear that malformations of these structures are often associated with dysfunction or malformation of other organ systems. This review focuses upon the importance of communication between clinical researchers and basic scientists in the advancement of knowledge of this group of disorders. Disorders of anteroposterior patterning, cerebellar hypoplasias, disorders associated with defects of the pial limiting membrane (cobblestone cortex, disorders of the Reelin pathway, and disorders of the primary cilium/basal body organelle (molar tooth malformations are the main focus of the review.
Full Text Available Claudia Portoghese1, Maura Buttiglione1, Andrea De Giacomo1, Mariaelena Lafortezza1, Paola A Lecce1, Domenico Martinelli2, Vito Lozito1, Lucia Margari11Child Neurological and Psychiatric Unit, Department of Neurological and Psychiatric Sciences, 2Department of Biomedical Science and Oncology, University of Bari, ItalyAbstract: The utility of the developmental quotient (DQ obtained with the Psychoeducational Profile Revised (PEP-R was assessed as a means of estimating cognitive ability in young children with pervasive developmental disorders. Data from the PEP-R were analysed in a sample of 44 children aged from 2.0 to 5.9 years (mean 3.46 ± 1, 13 with an autistic disorder and 31 with a pervasive developmental disorder not otherwise specified. DQ scores were compared with scores from the Leiter International Performance Scale Revised-Visualization and Reasoning Battery (Leiter-R in the same 44 children. Overall and domain DQs on the PEP-R were significantly correlated with Leiter-R scores. This study suggests that DQ scores obtained from the PEP-R in preschool children with pervasive developmental disorders may be a viable alternative to the Leiter-R as an assessment tool.Keywords: autism, pervasive development disorder, PEP-R, assessment, cognitive function
Dyslexia is a learning disability in which reading (but not any other) impairment is the most prominent symptom. There seems to be a high comorbidity among dyslexia and other learning disabilities, such as SLI, SSD or ADHD. The nulear deficit in dyslexia appears to correspond to an impairment in phonological processing. Structural and functional studies in dyslexic readers converge to indicate the presence of malformations in the brain areas corresponding to the reading systems, but also a failure of these systems to function properly during reading. Genes linked (or associated) to dyslexia have been shown to be involved in neuronal migration and axon guidance during the formation of the cortex. In the developing cerebral neocortex of rats, local loss of function of most of these genes not only results in abnormal neuronal migration and neocortical and hippocampal malformations, but also in deficits related to auditory processing and learning. While the structural malformations resemble neuronal migration abnormalities observed in the brains of individuals with developmental dyslexia, processing/learning deficits also resemble deficits described in individuals affected by the disease. On the whole, dyslexia seems to be on a continuum with typical reading at different biological levels (genetic, biochemical, physiological, cognitive). Furthermore, certain elements belonging to some of these levels (mainly -some of the- genes linked or associated to the disease, but also -some of the- neuronal structures whose development is regulated by these genes) would simultaneously belong to those of other cognitive abilities, which give rise to diseases of a different nature (i.e. non- dyslexic impairments) when they are impaired. Copyright © 2009 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.
Osada, Hirokazu; Tachimori, Hisateru; Koyama, Tomonori; Kurita, Hiroshi
We followed up 67 children with autistic disorder (AD) and 31 children with pervasive developmental disorder not otherwise specified (PDDNOS) for more than 10 years by reviewing medical records at a clinic for children with developmental disabilities. The participants' data were collected between their first visit to the clinic and the visit at which they applied for basic disability benefits. The standardized IQ scores and autistic symptoms were examined as measures of the children's personal functioning. For environmental factors, we examined the participants' educational placements and work and residential status. Using structural equation modeling, we examined the longitudinal developmental courses of AD and PDDNOS. Participants diagnosed with AD consistently showed lower IQ and more severe autistic symptoms than those diagnosed with PDDNOS. Relationships between personal functioning and environmental factors differed between the two groups. AD and PDDNOS are heterogeneous, so they must be treated differently to improve children's prognoses.
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
Doyle, Lex W.; Schmidt, Barbara; Anderson, Peter J.; Davis, Peter G.; Moddemann, Diane; Grunau, Ruth E.; O'Brien, Karel; Sankaran, Koravangattu; Herlenius, Eric; Roberts, Robin; Asztalos, Elizabeth V.; Barrington, Keith J.; Dewey, Deborah; Ohlsson, Arne; Roberts, Robin S.; Solimano, Alfonso; Tin, Win; Gent, Michael; Fraser, William; Hey, Edmund; Perlman, Max; Thorpe, Kevin; Gray, Shari; Chambers, Carole; Costantini, Lorrie; Yacura, Wendy; McGean, Erin; Scapinello, Lori; D'Ilario, Judy; Cairnie, Janice; Dix, Joanne; Adams, Beth; Warriner, Erin; Kim, Mee-Hai Marie; Argus, Brenda; Callanan, Kate; Davis, Noni; Duff, Julianne; McDonald, Marion; Hohn, Denise; Lacy, Maralyn; Haslam, Ross; Barnett, Christopher; Goodchild, Louise; Lontis, Rosslyn; Fraser, Simon; Keng, Julie; Saunders, Kerryn; Opie, Gillian; Kelly, Elaine; Woods, Heather; Marchant, Emma; Turner, Anne-Marie; Magrath, Emma; Williamson, Amanda; Bairam, Aida; Bélanger, Sylvie; Fraser, Annie; Lemyre, Brigitte; Frank, Jane; Synnes, Anne; Hubber-Richard, Philippa; Rogers, Marilyn; Mackay, Margot; Petrie-Thomas, Julianne; Butt, Arsalan; van Wassenaer, Aleid; Nuytemans, Debbie; Houtzager, Bregje; van Sonderen, Loekie; Regev, Rivka; Itzchack, Netter; Arnon, Shmuel; Chalaf, Adiba; Hamilton, Anne-Marie; Chan, May Lee; Morgan, Sheila; Proctor, Pat; Golan, Agneta; Goldsch-Lerman, Esther; Reynolds, Graham; Dromgool, Barbara; Meskell, Sandra; Parr, Vanessa; Maher, Catherine; Broom, Margaret; Kecskes, Zsuzsoka; Ringland, Cathy; McMillan, Douglas; Schaab, Debbie; Spellen, Elizabeth; Sauve, Reginald S.; Christianson, Heather; Anseeuw-Deeks, Deborah; Creighton, Dianne; Heath, Jennifer; Alvaro, Ruben; Chiu, Aaron; Porter, Ceceile; Turner, Gloria; Granke, Naomi; Penner, Karen; Bow, Jane; Mulder, Antonius; Wassenberg, Renske; van der Hoeven, Markus; Clarke, Maxine; Parfitt, Judy; Parker, Kevin; Nwaesei, Chukwuma; Ryan, Heather; Schulze, Andreas; Wermuth, Inga; Hilgendorff, Anne; Flemmer, Andreas W.; Legnevall, Lena; Lagercrantz, Hugo; Matthew, Derek; Amos, Wendy; Tulsiani, Suresh; Tan-Dy, Cherrie; Turner, Marilyn; Phelan, Constance; Shinwell, Eric; Levine, Michael; Juster-Reicher, Ada; Khairy, May; Grier, Patricia; Vachon, Julie; Perepolkin, Larissa; Sinha, Sunil; Fritz, Susan; Walti, Herve; Royer, Diane; Halliday, Henry; Millar, David; Berry, Anne; Mayes, Clifford; McCusker, Christopher; McLaughlin, Olivia; Fahnenstich, Hubert; Tillmann, Bettina; Weber, Peter; Wariyar, Unni; Embleton, Nicholas; Swamy, Ravi; Bucher, Hans U.; Fauchere, Jean-Claude; Dietz, Vera; Harikumar, Chidambara
Objective To determine the effect of neonatal caffeine treatment on rates of developmental coordination disorder (DCD). Study design Children in the Caffeine for Apnea of Prematurity trial were assessed for motor performance (Movement Assessment Battery for Children [MABC]), clinical signs of
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…
Bo, Jin; Lee, Chi-Mei
Children with Developmental Coordination Disorder (DCD) are characterized as having motor difficulties and learning impairment that may last well into adolescence and adulthood. Although behavioral deficits have been identified in many domains such as visuo-spatial processing, kinesthetic perception, and cross-modal sensory integration, recent…
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…
Marshall, Chloe R.; Messaoud-Galusi, Souhila
Language and literacy are cognitive skills of exceptional complexity. It is therefore not surprising that they are at risk of impairment either during development or as a result of damage (e.g. stroke) later in life. Impaired language and literacy can arise from a general learning impairment. However, two developmental disorders, specific language…
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…
Hall, Jessica; Van Horne, Amanda Owen; McGregor, Karla K.; Farmer, Thomas
Purpose: This study examined whether college students with developmental language disorder (DLD) could use distributional information in an artificial language to learn about grammatical category membership in a way similar to their typically developing (TD) peers. Method: Seventeen college students with DLD and 17 TD college students participated…
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…
Cocks, Neralie; Barton, Belinda; Donelly, Michelle
Children with Developmental Coordination Disorder (DCD) experience difficulties in motor coordination. During the last decade there has been increasing interest in the psychosocial aspects of children with motor coordination difficulties. To date, the majority of studies have focused on the perceived competence and global self-worth of children…
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…
Durand, V. Mark; And Others
Four children (ages 2-12) with developmental disabilities and sleep disorders were provided with a consistent bedtime routine combined with a graduated extinction procedure for nighttime behavior problems. Treatment resulted in decreases in night wakings and disturbances, indicating the effectiveness of relatively simple behavioral interventions.…
Pennington, Bruce F.
The emerging etiological model for developmental disorders, like dyslexia, is probabilistic and multifactorial while the prevailing cognitive model has been deterministic and often focused on a single cognitive cause, such as a phonological deficit as the cause of dyslexia. So there is a potential contradiction in our explanatory frameworks for…
Donkelaar, H.J. ten; Lammens, M.M.Y.; Wesseling, P.; Thijssen, H.O.M.; Renier, W.O.
The human cerebellum develops over a long time, extending from the early embryonic period until the first postnatal years. This protracted development makes the cerebellum vulnerable to a broad spectrum of developmental disorders. The development of the cerebellum occurs in four basic steps: 1)
Didden, H.C.M.; Sigafoos, J.
This paper describes research on the prevalence, correlates, and treatment of sleep disorders in individuals with developmental disabilities. A significant number of individuals with developmental disabilities have disordered sleep, although prevalence estimates vary from 13% to 86%. Constitutional
(30.6% children were suspected to have depression. Conclusion After the Padang and Pariaman earthquake, we found 10% of subjects screened were suspected of having a developmental disorder. The most connnonbehavioral disorder found was internalizing disorder. Possible depression was found in 30.6% of children surveyed. Traumatized children are at risk for developing post traumatic stress disorder. 2011;5' :133-7].
McCrory, E J; Mayes, L
Substance abuse and drug addiction are two of the most common psychopathologies among the general population. While a host of risk factors are associated with the onset of drug abuse and drug addiction, there is a growing body of evidence pointing to the powerful influence of early adverse experiences, both child neglect and maltreatment, as well as drug use and abuse in parents and/or primary caretakers. We consider the case for drug addiction as a developmental disorder, outlining the need to consider the role of genetic, epigenetic, and neurobiological factors alongside experiences of adversity at key stages of development. Such a multilevel approach within a developmental framework has the potential to reframe our understanding of how addiction emerges and is maintained, and is essential if we are to identify the mechanisms underlying this disorder to better inform effective treatment and prevention across the generations.
Zhu, Ya-Nan; Ao, Ying; Li, Bin; Wan, Yang; Wang, Hui
Podocyte is one of the main components of glomerular filtration barrier in the kidney; the loss or dysfunction of podocyte could impair the functions of glomerular filtration barrier, leading to development of various renal diseases. Podocyte is a terminally differentiated cell, and thus does not possess any proliferative properties. Accordingly, its number and contribution to renal function are initially determined by its normal development. Information from the literature and results of our research indicate that genetic factors or prenatal adverse environment could cause developmental retardation of podocytes, thereby suggesting the potential fetal developmental origin(s) of kidney diseases, and involvement of epigenetic mechanisms in the regulation of key genes in podocyte development. In this review, we provide a brief overview on the podocyte normal development; discussion on the potential pathogenic mechanisms for developmental disorders of podocytes; as well as renal diseases associated with podocyte developmental retardation. We aim to provide some insights in articulating the strategies for diagnosis and treatments of renal diseases associated with podocyte developmental abnormalities.
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...
Rondeau, Emelie; Klein, Leslie S.; Masse, Andre; Bodeau, Nicolas; Cohen, David; Guile, Jean-Marc
We reviewed the stability of the diagnosis of pervasive developmental disorder not otherwise specified (PDD-NOS). A Medline search found eight studies reiterating a diagnostic assessment for PDD-NOS. The pooled group included 322 autistic disorder (AD) and 122 PDD-NOS cases. We used percentage of individuals with same diagnose at Times 1 and 2 as…
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…
Mariën, Peter; Verhoeven, Jo; Wackenier, Peggy; Engelborghs, Sebastiaan; De Deyn, Peter P
Foreign Accent Syndrome (FAS) is a relatively rare motor speech disorder in which the pronunciation of a patient is perceived by listeners of the same language community as distinctly foreign. FAS has been well documented in adult patients with etiologically heterogeneous, though mostly vascular brain lesions affecting the motor speech network of the language dominant hemisphere. In addition, reports exist of adult patients in whom FAS was due to a psychiatric illness. Although FAS has been reported in children, such accounts are rare and have remained largely anecdotal in that there have been no formally documented cases of FAS as a developmental motor speech disorder. For the first time, we describe the clinical, cognitive and neurolinguistic findings in two patients who in the absence of a history of psychiatric illness or acquired brain damage already presented with FAS at an early stage of speech and language development. In the first patient "developmental FAS" was associated with a dysharmonic distribution of neurocognitive test results indicating slight underdevelopment of visuo-spatial skills and visual memory. The second patient presented with "developmental FAS" associated with specific language impairment (SLI). Independent support for a diagnosis of FAS in both patients was obtained in an accent attribution experiment in which groups of native speakers of (Belgian) Dutch assessed the type of foreign accent of a sample of the patients' conversational speech. Both patients were judged as non-native speakers of Dutch by the majority of participants who predominantly identified the accent as French. This paper for the first time documents two patients who presented with FAS on a developmental basis. The finding that FAS does not only occur in the context of acquired brain damage or psychogenic illness but also exists as developmental motor speech impairment requires a re-definition of FAS as a clinical syndrome.
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.
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.
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.
Farmer, Richard F; Gau, Jeff M; Seeley, John R; Kosty, Derek B; Sher, Kenneth J; Lewinsohn, Peter M
The developmental pathways associated with an enhanced risk for future alcohol use disorders (AUDs) continue to be a topic of both interest and debate. In this research, internalizing and externalizing disorders were evaluated as prospective predictors of the index AUD episode onset, separately within three developmental periods: early-to-middle adolescence (age 13.0-17.9), late adolescence (18.0-20.9), and early adulthood (21.0-30.0). Participants (N=816) were initially randomly selected from nine high schools in western Oregon and subsequently interviewed on four separate occasions between ages 16 and 30, during which current and past AUDs were assessed as well as a full range of psychiatric disorders associated with internalizing and externalizing psychopathology domains. In adjusted analyses for each of the three developmental periods investigated, externalizing domain psychopathology from the most proximal adjoining developmental period predicted AUD onset. Distal externalizing psychopathology also predicted AUD onset among early adult onset cases. Proximal or distal internalizing psychopathology, in comparison, was not found to be a significant predictor of AUD onset in adjusted analyses for any of the developmental periods examined. Findings overall suggest that externalizing developmental histories are robust predictors of AUD onset within the age range during which index episodes are most likely to occur, and that gender does not moderate this association. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.
Biotteau, Maëlle; Chaix, Yves; Albaret, Jean-Michel
There is increasing evidence to suggest that developmental dyslexia (DD) and developmental coordination disorder (DCD) actually form part of a broader disorder. Their frequent association could be justified by a deficit of the procedural memory system, that subtends many of the cognitive, motor and linguistic abilities that are impaired in both DD and DCD. However, studies of procedural learning in these two disorders have yielded divergent results, and in any case no studies have so far addressed the issue of automatization (dual-task paradigm). We administered a finger tapping task to participants aged 8-12 years (19 DCD, 18 DD, and 22 with both DD and DCD) to explore procedural learning and automatic movements in these three groups of children, comparing motor performances at the prelearning stage, after 2 weeks of training, and in a post-training dual-task condition. First, results indicated that all the children were able to learn a sequence of movements and even automatize their movements. Second, they revealed between-groups differences in procedural/automatization learning abilities, setting the DCD group apart from the other two. Third, contrary to our expectations concerning comorbidity, they suggested that the DD+DCD association does not have an additional impact on behavioral performances. Copyright © 2015 Elsevier B.V. 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.
Matson, Johnny L; Mahan, Sara; Kozlowski, Alison M; Shoemaker, Mary
To investigate age differences in developmental milestone attainment among toddlers with Autistic Disorder, PDD-NOS and atypical development. A questionnaire was administered to caregivers of toddlers to obtain ages of onset of developmental milestones. The study included 1044 participants with 442, 112, 498 and 497 participants in first word, first phrase, crawling and walking analyses, respectively. Significant differences were found between groups on the attainment of milestones within normal limits, delayed or not yet attained. Significant differences were also found between groups in age of saying first word and onset of crawling. There were no significant differences between groups for walking or first phrase. Increased severity of autism has been noted to be related to greater deficits in a multitude of areas. With basic human motor behaviours also appearing to follow that trend, motor and speech skills should be targeted in early intervention programmes.
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.
Rubén José Bernal-Celestino
Full Text Available Objective. People with intellectual developmental disorders (IDD have worse health statuses in comparison with general population. The objective of this paper is to compare access and hospital morbimortality in people with IDD and general population. Material and methods. We conducted aretrospective cross-sectional analytical study and analyzed data on admissions and discharges between IDD patients and the rest of them, in Ciudad Real, España. Results. Out of 51 325 hospital admissions, 441 (0.9% belonged to the group of persons with IDD. The IDD group had fewer programmed hospitalization than the general population and fewer surgical interventions. They presented more admissions for mental disorders and respiratory system diseases. Conclusions.The data presented confirm TDI population have different patterns of disease. Furthermore, this study reveal potential difficulties in access to health care in this population.
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.
Allen, Susan; Casey, Jackie
Introduction Children with developmental coordination disorder or sensory processing and integration difficulties face challenges to participation in daily living. To date there has been no exploration of the co-occurrence of developmental coordination disorders and sensory processing and integration difficulties. Method Records of children meeting Diagnostic and Statistical Manual ? V criteria for developmental coordination disorder (n?=?93) age 5 to 12 years were examined. Data on motor ski...
Full Text Available Abstract Recent studies suggested a link between type 1 diabetes mellitus and pervasive developmental disorder. Moreover, permanent neonatal diabetes mellitus due to pancreatic agenesis can be associated with neurological deficit involving cerebellar functions, but no association with pervasive developmental disorder has been described so far. Clinical and neuropsychological evaluation of a child with pancreatic agenesis, mental retardation and pervasive developmental disorder is reported.
Barnett, A L; Wiggs, L
Children with developmental co-ordination disorder (DCD) experience significant difficulty in the performance of everyday movement skills in the absence of obvious neurological, sensory or intellectual impairment. They often underachieve academically and have higher rates of anxiety than their typically developing peers. Such factors are known to be associated with sleep problems in other clinical populations but the sleep patterns of children with DCD have not been examined. Information about the frequency and nature of sleep problems in DCD will aid our understanding of this developmental disorder. It may also be clinically helpful, alerting clinicians to potential difficulties so that these can be identified early and appropriate support offered. To examine sleep behaviour of children with DCD compared with typically developing control children. Two groups of 16 boys aged 8 to 12 years (M = 10.28, SD = 1.28) participated: (1) the DCD group had Movement ABC-2 Checklist scores below the 5th percentile; (2) an age-matched control group of typically developing children had Movement ABC-2 Checklist scores above the 15th percentile. Parents of children from both groups completed the Children's Sleep Habits Questionnaire. The total sleep disturbance score was significantly higher for children with DCD compared with the control group (U= 24, P breathing. These preliminary results suggest that sleep patterns of children with DCD may be of clinical relevance and are worthy of further investigation. © 2011 Blackwell Publishing Ltd.
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
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.
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
Gonzalez-Mantilla, Andrea J; Moreno-De-Luca, Andres; Ledbetter, David H; Martin, Christa Lese
Developmental brain disorders are a group of clinically and genetically heterogeneous disorders characterized by high heritability. Specific highly penetrant genetic causes can often be shared by a subset of individuals with different phenotypic features, and recent advances in genome sequencing have allowed the rapid and cost-effective identification of many of these pathogenic variants. To identify novel candidate genes for developmental brain disorders and provide additional evidence of previously implicated genes. The PubMed database was searched for studies published from March 28, 2003, through May 7, 2015, with large cohorts of individuals with developmental brain disorders. A tiered, multilevel data-integration approach was used, which intersects (1) whole-genome data from structural and sequence pathogenic loss-of-function (pLOF) variants, (2) phenotype data from 6 apparently distinct disorders (intellectual disability, autism, attention-deficit/hyperactivity disorder, schizophrenia, bipolar disorder, and epilepsy), and (3) additional data from large-scale studies, smaller cohorts, and case reports focusing on specific candidate genes. All candidate genes were ranked into 4 tiers based on the strength of evidence as follows: tier 1, genes with 3 or more de novo pathogenic loss-of-function variants; tier 2, genes with 2 de novo pathogenic loss-of-function variants; tier 3, genes with 1 de novo pathogenic loss-of-function variant; and tier 4, genes with only inherited (or unknown inheritance) pathogenic loss-of-function variants. Development of a comprehensive knowledge base of candidate genes related to developmental brain disorders. Genes were prioritized based on the inheritance pattern and total number of pathogenic loss-of-function variants identified amongst unrelated individuals with any one of six developmental brain disorders. A combination of phenotype-based and genotype-based literature review yielded 384 studies that used whole-genome or exome
Acarlar, Funda; Johnston, Judith R
Many children with specific language impairment, Down syndrome or autism spectrum disorder have difficulty learning grammatical morphology, especially forms associated with the verb phrase. However, except for Hebrew, the evidence thus far has come from Indo-European languages. This study investigates the acquisition of grammatical morphology by Turkish-speaking children with developmental disorders. Syntactic, perceptual and usage features of this non-Indo-European language were predicted to lead to patterns of atypical learning that would challenge and broaden current views. Language samples were collected from 30 preschoolers learning Turkish: ten with developmental disorders, ten matched by age and ten by length of utterance. T-SALT then generated mean length of utterance, the total number of noun errors, the total number of verb errors and the per cent use in obligatory contexts for noun suffixes. Analyses also looked at the potential effects of input frequency on order of acquisition. Turkish children in the MLU-W control group, aged 3;4, used noun and verb suffixes with virtually no errors. Children in the group with atypical language showed more, and more persistent, morphological errors than either age or language peers, especially on noun suffixes. Children in the ALD and MLU-W groups were acquiring noun case suffixes in an order that is strongly related to input frequencies. These findings seem to reflect the influence of salience, regularity and frequency on language learning. Typical child-adult discourse patterns as well as the canonical SOV Turkish word order make verb suffixes perceptually salient, available in working memory and frequently repeated. The findings support the view that the language patterns seen in children with atypical development will differ from one language type to the next. They also suggest that regardless of language or syntactic class, children will have greater difficulty with those features of grammar that have higher
Paul, Lynn K
This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclusively by genetics, developmental insult, and/or behavior. I begin with a general review of CC development, connectivity, and function, followed by discussion of the research methods typically utilized to study the callosum. The bulk of the review concentrates on specific developmental disorders, beginning with agenesis of the corpus callosum (AgCC)-the only condition diagnosed exclusively by callosal anatomy. This is followed by a review of several genetic disorders that commonly result in social impairments and/or psychopathology similar to AgCC (neurofibromatosis-1, Turner syndrome, 22q11.2 deletion syndrome, Williams yndrome, and fragile X) and two forms of prenatal injury (premature birth, fetal alcohol syndrome) known to impact callosal development. Finally, I examine callosal involvement in several common developmental disorders defined exclusively by behavioral patterns (developmental language delay, dyslexia, attention-deficit hyperactive disorder, autism spectrum disorders, and Tourette syndrome).
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
Kawabe, Kentaro; Kondo, Shizuka; Matsumoto, Miki; Seo, Kanae; Ochi, Marina; Oka, Yasunori; Horiuchi, Fumie; Ueno, Shu-Ichi
Autism spectrum disorders (ASD) are characterized by persistent deficits in social communication and social interaction across contexts, and are associated with restricted patterns of behavior. The developmental quotient (DQ) is based on the developmental age and chronological age of children. This study investigated the utility of the DQ to estimate cognitive ability in young children with ASD. The DQ and intelligence quotient (IQ) were assessed using the Kyoto Scale of Psychological Development 2001 (KSPD) and Wechsler Intelligence Scale for Children-III (WISC-III), respectively. The correlation between the DQ and IQ was then analyzed among children with ASD. We enrolled 18 children with ASD (16 boys, two girls; age, 63.6 ± 9.4 months; age range, 45-83 months). Overall, Cognitive-Adaptive and Language-Social DQ scores were significantly correlated with IQ score in the full scale, verbal, and performance domains. Full-scale IQ and overall DQ had a linear correlation (y = -22.747 + 1.177x, R2 = 0.677, R = 0.823). The DQ scores obtained using the KSPD were a reasonable estimate of cognitive ability in children with ASD. The KSPD may be a useful alternative to the WISC-III for young children with ASD and could facilitate earlier assessment. © 2016 Japan Pediatric Society.
Hall, Jessica; Owen Van Horne, Amanda; McGregor, Karla K; Farmer, Thomas
This study examined whether college students with developmental language disorder (DLD) could use distributional information in an artificial language to learn about grammatical category membership in a way similar to their typically developing (TD) peers. Seventeen college students with DLD and 17 TD college students participated in this task. We used an artificial grammar in which certain combinations of words never occurred during training. At test, participants had to use knowledge of category membership to determine which combinations were allowable in the grammar, even though they had not been heard. College students with DLD performed similarly to TD peers in distinguishing grammatical from ungrammatical combinations. Differences in ratings between grammatical and ungrammatical items in this task suggest that college students with DLD can form grammatical categories from novel input and more broadly use distributional information.
Full Text Available Pervasive developmental disorders (PDDs are characterized by several impairments in the domains of social communication, social interaction and expression of social attachment, and other aspects of development like symbolic play. As the role of drugs in treating these impairments is extremely limited, a variety of psychological interventions have been developed to deal with them. Some of these have strong empirical support, while others are relatively new and hence controversial. Though it may prove to be a daunting task to begin with, the final reward of being able to improve the life of a child with PDD is enormous and hugely satisfying. Therefore, knowledge of these psychological interventions is important for a mental health professional, in order to be effective in the profession. Present paper presents an overview of these techniques in the management of PDD.
Carno, Margaret-Ann; Hoffman, Leslie A; Carcillo, Joseph A; Sanders, Mark H
Sleep is an important physiological process with profound impact on the body. Sleep undergoes normal developmental changes and common sleep problems are seen in general pediatric practice. This article discusses normal developmental changes related to sleep, common sleep disorders experienced by children and how nurses can assist parents in coping with these changes and disorders.
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....
Studies carried out in this powerful neurogenetic model system during the last decade now provide insight into the molecular mechanisms that operate in neural stem cells during normal brain development and during abnormal brain tumorigenesis. These studies also provide strong support for the notion that conserved ...
Jul 8, 2014 ... Insights into brain development and disease from neurogenetic analyses in Drosophila melanogaster. HEINRICH REICHERT. Biozentrum, University of Basel, Basel, Switzerland. (Email, email@example.com). Groundbreaking work by Obaid Siddiqi has contributed to the powerful genetic toolkit that ...
Rakhlin, Natalia; Cardoso-Martins, Cláudia; Kornilov, Sergey A; Grigorenko, Elena L
The goal of the study was to investigate the overlap between developmental language disorder (DLD) and developmental dyslexia, identified through spelling difficulties (SD), in Russian-speaking children. In particular, we studied the role of phoneme awareness (PA), rapid automatized naming (RAN), pseudoword repetition (PWR), morphological (MA), and orthographic awareness (OA) in differentiating between children with DLD who have SD from children with DLD who are average spellers by comparing the two groups to each other, to typically developing children as well as children with SD but without spoken language deficits. One hundred forty-nine children, aged 10.40 to 14.00 years, participated in the study. The results indicated that the SD, DLD, and DLD/SD groups did not differ from each other on PA and RAN Letters and underperformed in comparison to the control groups. However, whereas the children with written language deficits (SD and DLD/SD groups) underperformed on RAN Objects and Digits, PWR, OA, and MA, the children with DLD and no SD performed similarly to the children from the control groups on these measures. In contrast, the two groups with spoken language deficits (DLD and DLD/SD) underperformed on RAN Colors in comparison to the control groups and the group of children with SD only. The results support the notion that those children with DLD who have unimpaired PWR and RAN skills are able to overcome their weaknesses in spoken language and PA and acquire basic literacy on a par with their age peers with typical language. We also argue that our findings support a multifactorial model of DLD.
Walker, Cheryl K; Krakowiak, Paula; Baker, Alice; Hansen, Robin L; Ozonoff, Sally; Hertz-Picciotto, Irva
Increasing evidence suggests that autism spectrum disorder (ASD) and many forms of developmental delay (DD) originate during fetal development. Preeclampsia may trigger aberrant neurodevelopment through placental, maternal, and fetal physiologic mechanisms. To determine whether preeclampsia is associated with ASD and/or DD. The Childhood Autism Risks from Genetics and the Environment (CHARGE) study is a population-based, case-control investigation of ASD and/or DD origins. Children from 20 California counties aged 24 to 60 months at the time of recruitment and living in catchment areas with a biological parent fluent in English or Spanish were enrolled from January 29, 2003, through April 7, 2011. Children with ASD (n = 517) and DD (n = 194) were recruited through the California Department of Developmental Services, the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, and referrals. Controls with typical development (TD) (n = 350) were randomly selected from birth records and frequency matched on age, sex, and broad geographic region. Physicians diagnosing preeclampsia were masked to neurodevelopmental outcome, and those assessing neurodevelopmental function were masked to preeclampsia status. Preeclampsia and placental insufficiency were self-reported and abstracted from medical records. The Autism Diagnostic Observation Schedule and Autism Diagnostic Interview-Revised were used to confirm ASD, whereas children with DD and TD were confirmed by Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales and were free of autistic symptoms. Hypotheses were formulated before data collection. Children with ASD were twice as likely to have been exposed in utero to preeclampsia as controls with TD after adjustment for maternal educational level, parity, and prepregnancy obesity (adjusted odds ratio, 2.36; 95% CI, 1.18-4.68); risk increased with greater preeclampsia severity (test for trend, P = .02). Placental
Full Text Available The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation. RT-qPCR and Western blotting indicated differential regulation of additional 13 new target genes in response to overexpression of human FOXP2. These genes may be directly regulated by FOXP2 considering numerous matches of established FOXP2-binding motifs as well as publicly available FOXP2-ChIP-seq reads within their putative promoters. Ontology analysis of the new and reproduced targets, along with their interactors in a network, revealed an enrichment of terms relating to cellular signaling and communication, metabolism and catabolism, cellular migration and differentiation, and expression regulation. Notably, terms including the words “neuron” or “axonogenesis” were also enriched. Complementary literature screening uncovered many connections to human developmental (autism spectrum disease, schizophrenia, Down syndrome, agenesis of corpus callosum, trismus-pseudocamptodactyly, ankyloglossia, facial dysmorphology and neurodegenerative diseases and disorders (Alzheimer’s, Parkinson’s, and Huntington’s diseases, Lewy body dementia, amyotrophic lateral sclerosis. Links to deafness and dyslexia were detected, too. Such relations existed for single proteins (e.g., DCDC2, NURR1, PHOX2B, MYH8, and MYH13 and groups of proteins which conjointly function in mRNA processing, ribosomal recruitment, cell–cell adhesion (e.g., CDH4, cytoskeleton
Tsai, Chia-Liang; Wu, Sheng K; Huang, Chi-Huang
The purpose of this study was to compare the postural sway profiles of 9/10-year-old children with developmental coordination disorder and balance problems (DCD-BP, n=64) with those of non-DCD children (n=71). We measured center of pressure excursions in conditions with and without vision for 30s while standing still on the dominant leg, the non-dominant leg, or both legs. Sway area, total path length, and Romberg's quotient were analyzed. Most measures differed significantly between groups, except sway area when the children stood with vision on either the dominant leg or both legs. When standing on the dominant leg or both legs, DCD-BP children demonstrated greater total path length in all conditions and a greater sway area in without-vision conditions. DCD-BP children showed more difficulty standing on the non-dominant leg with eyes both open and closed. While boys showed results similar to the total group, the girls with DCD-BP only exhibited significant differences in three conditions with eyes closed, but not with eyes open. Analysis of Romberg's coefficient also indicated that children with DCD-BP did not over-rely on visual information.
Full Text Available Developmental Coordination Disorder (DCD is a neurodevelopmental condition characterized by poor motor proficiency that interferes with an individual’s activities of daily living. These problems in motor coordination are prevalent despite children’s intelligence levels. Common symptoms include marked delays in achieving motor milestones and clumsiness, typically associated with poor balance, coordination, and especially handwriting skills. Currently, DCD is said to impact about 2-7% of school-age children. More importantly, DCD is considered to be one of the major health problems among school-aged children worldwide, with unique consequences to physical and mental health. Because these children and adolescents often experience difficulties participating in typical childhood activities (e.g., riding a bike, they tend be more sedentary, more overweight/obese, at a higher risk for coronary vascular disease, and have lower cardiorespiratory and physical fitness than their typically developing peers. From another perspective, the motor difficulties have also been linked to an increased risk for mental health issues, such as higher anxiety and depression. The understanding of the health consequences associated with DCD offers practical applications for the understanding of the mechanisms and intervention protocols that can improve the consequences of this condition. In this review, I will explore such consequences and provide evidence for the implementation of interventions that focus on improving physical and mental health in this population.
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
Developmental coordination disorder (DCD) is frequently under-recognized, but in fact, it occurs in as many as 5-6% of children. DCD is a disorder of motor coordination that is not explained by intellectual disability or any congenital or acquired neurological disorder. Families seek physical and occupational therapy (OT) to ameliorate a child…
Dyck, Murray J.; Piek, Jan P.; Patrick, Jeff
We tested whether developmental coordination disorder (DCD) and mixed receptive expressive language disorder (RELD) are valid diagnoses by assessing whether they are separated from each other, from other childhood disorders, and from normality by natural boundaries termed zones of rarity. Standardized measures of intelligence, language, motor…
Caçola, Priscila; Miller, Haylie L; Williamson, Peace Ossom
Autism Spectrum Disorder (ASD) and Developmental Coordination Disorder (DCD) are developmental disorders that, since the DSM-5, can be diagnosed as co-occurring conditions. While some recent studies suggest that ASD and DCD have similar traits, others show clear behavioral distinctions between the two conditions. By gathering all studies that included (1) an ASD group and a DCD group, (2) an ASD+DCD group and a DCD group, or (3) ASD, ASD+DCD, and DCD groups, we aimed to identify similarities and differences in behaviors between the two disorders. We used a systematic search of PubMed (1946 -), Scopus (1970 -), PsycINFO (via EBSCO, 1600 -), CINAHL (via EBSCO, 1937 -), SportDiscus (via EBSCO, 1985 -), and WorldCat (via FirstSearch) in addition to reference list and author name searching PubMed, Scopus, PsycINFO, CINAHL, SportDiscus, and WorldCat to identify original studies that met the following criteria: (1) an ASD group and a DCD group, (2) an ASD+DCD group and a DCD group, or (3) ASD, ASD+DCD, and DCD groups. From the 1,598 articles screened, 11 were included in the qualitative analysis. The articles included reported more differences than similarities in individuals with ASD and DCD, with clear distinctions for working memory ability, gestural performance, grip selection, and cortical thickness. Only two studies reported similarities in face processing abilities and perceived competence, and the interventional studies showed group similarities in behavior improvement, such as intelligence and attention. Based on the articles reviewed, we conclude that while DCD and ASD share some behavioral symptoms, the symptom profiles of each disorder are unique and separable. We recommend that the evaluation of potential DCD in individuals with ASD be performed systematically and thoroughly, so as to distinguish this co-occurring condition from sensorimotor symptoms associated with ASD.
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....... 1.8%; P language disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective...
Mouridsen, Svend Erik; Hauschild, Karen-Marie
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....... 1.8%; P language disorder was significantly associated with a schizophrenia spectrum disorder diagnosis in the DPCR. There was no significant increase in affective spectrum...
Adams, I.L.J.; Smits-Engelsman, B.C.M.; Lust, J.M.; Wilson, P.H.; Steenbergen, B.
Children with Developmental Coordination Disorder (DCD) experience movement difficulties that may be linked to processes involved in motor imagery (MI). This paper discusses recent advances in theory that underpin the use of motor imagery (MI) training for children with Developmental Coordination
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…
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…
Savage, Hallie E.; And Others
This article presents a rationale for comprehensive developmental assessment for infants with cleft palates/lips and related disorders. The assessment model is based on risk factors influencing early development and on clinical research on developmental outcomes. Implications on the clinical assessment process and early intervention are discussed.…
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
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
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
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
Sugden, D A; Chambers, M E
Children with Developmental Coordination Disorder (DCD) are a heterogeneous group who have a marked impairment in the performance of functional motor skills. Provision for these children is usually made via a paediatrician through occupational or physiotherapy; though with a prevalence rate of 5%, regular provision is rarely possible because of limited professional resources. This study covers a period of nearly 4 years and initially examined a group of 31 children first identified as having DCD at 7-9 years of age. The children were observed and assessed before, during and after a total of 16 weeks of intervention carried out by parents and teachers. This was followed by a period of monitoring of performance for 26 of the children in the motor domain plus other abilities such as educational progress and self-concept. Individual children were tracked using a variety of qualitative and quantitative approaches, building up longitudinal whole child profiles. Following intervention, 14 of the 26 children have shown improvement and stability in all areas and no longer display DCD symptoms. Eight children have profiles which have shown variability, with the children moving in and out of the DCD classification, while the remaining four children have consistently scored poorly in their movement skills and in addition received ongoing support in school for academic subjects. The study has confirmed that children with DCD show varying profiles over a period of time and that the profiles have distinct characteristics related to events in the child's life. This approach to examining stability and change in the progressions of children's difficulties is in keeping with an ecological approach to explaining development with its multilayered influences creating changes.
Reilly, C; Senior, J; Murtagh, L
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. Parents (n = 381) and teachers (n = 204) of school-aged children with one of the four syndromes in the UK and Ireland were surveyed in a range of areas concerning the child's educational provision. Areas surveyed included school placement, views on the needs of children with the syndromes, desired changes to current provision and perceived teacher knowledge. School placement in mainstream settings decreased with age in all of the syndromes. Males with the syndromes were more likely to be in specialised educational settings with the exception of WS. Teachers reported limited input on initial or subsequent training for all of the syndromes. The majority of teachers did not view the needs of children with syndromes as different from other children with intellectual disability (ID) although there were significant differences between the syndromes. Changes deemed necessary to provision by parents and teachers differed between the syndromes indicating the existence of perceptions of syndrome specific needs. The lowest perceived level of teacher knowledge was in the VCFS group. The majority of teachers of children with neurogenetic syndromes report limited knowledge of the syndromes, but also a lack of belief that the children's needs are different from the majority of children with ID. Differences between the syndromes in some areas of provision suggest that a child's syndrome does impact on educational provision in some areas. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.
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,…
Marinac, Julie V.; Harper, Laura
The aim of this article is to inform the diagnostic knowledge base for professionals working in the field of language disorders when classic symptoms, characteristics and sequences are not found. The information reveals the risk of diagnosis with a developmental language disorder (DLD) by default when no underlying cause can be readily identified.…
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…
Berger, Itai; Nevo, Yoram
Attention deficit hyperactivity disorder (ADHD) is a childhood-onset disorder that is considered one of the most common neurobehavioral disorders. The symptoms of ADHD should be cast, not as static or fixed neurobehavioral deficits, but rather in terms of underlying developmental processes. Targeting attentional disorders early in life can bring about fundamental alterations in the pathogenesis of ADHD, and thus prevent or moderate the course of the disorder. The developmental approach can enable predictions concerning characteristics of ADHD that develop over time and inform us about multiple risk and protective factors that transact to impact its development, as well as the development of a broad range of associated co-morbid features. In this review, we describe the complex factors that predict and mediate the developmental course of ADHD, providing early cues for ADHD diagnosis and intervention in young children that will optimize outcome. Copyright © 2013 Wiley Periodicals, Inc.
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.
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.
Ho, Connie Suk-Han; Chan, David Wai-Ock; Leung, Patrick W. L.; Lee, Suk-Han; Tsang, Suk-Man
Most past research findings suggest that phonological deficit is unique to developmental dyslexia insofar as alphabetic languages are concerned. The present study investigated the existence of any similar unique reading-related cognitive deficits associated with developmental dyslexia in a nonalphabetic script, Chinese. The pattern of comorbidity…
Pieters, S; De Block, K; Scheiris, J; Eyssen, M; Desoete, A; Deboutte, D; Van Waelvelde, H; Roeyers, H
Few co-morbidity studies have been conducted since the Leeds Consensus Statement on developmental co-ordination disorder (DCD) in 2006. In this Statement, international cut-offs and inclusion criteria were agreed and consequently, the status of DCD changed. Furthermore, most existing co-morbidity studies are small clinical studies, rather than epidemiological studies, resulting in a broad range of co-morbidity rates. DCD has a higher incidence for boys in comparison with girls; questions arise if this preponderance remains the same in combination with other developmental disorders. Therefore, in this study we aimed to determine co-morbidity and gender differences of motor problems in children with a pervasive developmental disorder, a hyperkinetic disorder and/or a speech, language or learning disability. Profiles of 3608 children (mean age: 9 years 1 month) referred to rehabilitation centres for behavioural, developmental and sensorineural disorders were studied. Motor problems were reported in one-fifth of the total sample. Co-morbidity of motor problems in specific disorders varied from almost one-fourth to more than one-third. The male/female ratio was significantly higher in children with motor problems and two or more other disorders, compared with children with motor problems and less than two other disorders. This study indicates that co-morbidity of motor problems with other clinical disorders is not exceptional and developmental deviance is seldom specific to one domain. However, current co-morbidity studies tend to overestimate the number of children with motor problems. In addition, there may be different patterns of symptoms between the genders. These findings stress the importance of assessing motor skills in children with various developmental disorders. © 2011 Blackwell Publishing Ltd.
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.
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.
Kopp, Svenny; Beckung, Eva; Gillberg, Christopher
Examine the rate, predictors, and effect on daily life skills of developmental coordination disorder (DCD) and other motor control difficulties in school age girls with autism spectrum disorder (ASD) and/or attention-deficit/hyperactivity disorder (ADHD), in preschool age girls with ASD referred to a neuropsychiatric clinic, and in a community…
de Haan, L.; Bakker, J. M.
Based on a review of literature three main hypotheses on the neuropathology of schizophrenia are identified: (1) neurodegeneration, (2) a disorder that is limited to the early development of the brain, and (3) a progressive developmental disorder. Research findings and clinical observations present
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 developmental coordination disorder (DCD) and…
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…
Oranje, Bob; Lahuis, Bertine; van Engeland, Herman
Multiple Complex Developmental Disorder (MCDD) is a well-defined and validated behavioral subtype of autism with a proposed elevated risk of developing a schizophrenic spectrum disorder. The current study investigated whether children with MCDD show the same deficits in sensory gating...
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…
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.…
Willemsen-Swinkels, Sophie H. N.; Buitelaar, Jan K.; Weijnen, Florence G.; van Engeland, Herman
A study found that 13 low-functioning children (ages 3-7) with pervasive developmental disorder (PDD) showed fewer social initiatives than 19 high-functioning children with PDD, 19 children with language disorders, and 19 controls. Higher-functioning children with PDD differed from non-PDD controls in levels of visual checking and of returning…
Missiuna, Cheryl; Cairney, John; Pollock, Nancy; Campbell, Wenonah; Russell, Dianne J; Macdonald, Kathryn; Schmidt, Louis; Heath, Nancy; Veldhuizen, Scott; Cousins, Martha
This study explored whether or not a population-based sample of children with developmental coordination disorder (DCD), with and without comorbid attention deficit/hyperactivity disorder (ADHD), experienced higher levels of psychological distress than their peers. A two-stage procedure was used to identify 244 children: 68 with DCD only, 54 with ADHD only, 31 with comorbid DCD and ADHD, and 91 randomly selected typically developing (TD) children. Symptoms of depression and anxiety were measured by child and parent report. Child sex and caregiver ethnicity differed across groups, with a higher ratio of boys to girls in the ADHD only group and a slightly higher proportion of non-Caucasian caregivers in the TD group. After controlling for age, sex, and caregiver ethnicity, there was significant variation across groups in both anxiety (by parent report, F(3,235)=8.9, pchildren in all three disorder groups had significantly higher levels of symptoms than TD children, but most pairwise differences among those three groups were not significant. The one exception was the higher level of depressive symptoms noted by parent report in the ADHD/DCD group. In conclusion, children identified on the basis of motor coordination problems through a population-based screen showed significantly more symptoms of depression and anxiety than typically developing children. Children who have both DCD and ADHD are particularly at heightened risk of psychological distress. Copyright © 2014 Elsevier Ltd. All rights reserved.
Gadow, Kenneth D; DeVincent, Carla J
The goal of this study was to examine the clinical significance of co-occurring tics and attention-deficit hyperactivity disorder (ADHD) as indicators of a more complex symptomatology in children with and without pervasive developmental disorder. Parents and teachers completed a Diagnostic and Statistical Manual of Mental Disorders-IV-referenced rating scale for 3- to 5- (n = 182/135) and 6- to 12- (n = 301/191) year-old children with pervasive developmental disorder and clinic controls, respectively. The percentage of children with tic behaviors varied with age: preschoolers (25%, 44%) versus elementary schoolchildren (60%, 66%) (parent and teacher ratings, respectively). For many psychiatric symptoms, screening prevalence rates were highest for the ADHD + tics group and lowest for the group with symptoms of neither, but the pattern of group differences varied by age group and informant. In general, there were few differences between the ADHD only and tics only groups. The pattern of ADHD/tic group differences was similar for both children with and without pervasive developmental disorder. We concluded that these findings support the notion that the co-occurrence of ADHD and tics is an indicator of a more complex psychiatric symptomatology in children with pervasive developmental disorder.
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.
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)…
Kay-Raining Bird, E.; Genesee, F.; Verhoeven, L.T.W.
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
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.
Allen, Susan; Casey, Jackie
Children with developmental coordination disorder or sensory processing and integration difficulties face challenges to participation in daily living. To date there has been no exploration of the co-occurrence of developmental coordination disorders and sensory processing and integration difficulties. Records of children meeting Diagnostic and Statistical Manual - V criteria for developmental coordination disorder ( n = 93) age 5 to 12 years were examined. Data on motor skills (Movement Assessment Battery for Children - 2) and sensory processing and integration (Sensory Processing Measure) were interrogated. Of the total sample, 88% exhibited some or definite differences in sensory processing and integration. No apparent relationship was observed between motor coordination and sensory processing and integration. The full sample showed high rates of some difficulties in social participation, hearing, body awareness, balance and motion, and planning and ideation. Further, children with co-morbid autistic spectrum disorder showed high rates of difficulties with touch and vision. Most, but not all, children with developmental coordination disorder presented with some difficulties in sensory processing and integration that impacted on their participation in everyday activities. Sensory processing and integration difficulties differed significantly between those with and without co-morbid autistic spectrum disorder.
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.
Papamerkouriou, Yvonne-Mary; Orfanos, Ioannis; Tsiridis, Eleftherios; Anastasopoulos, John
Dysplasia epiphysealis hemimelica is a rare developmental disorder which affects the epiphyses. We report a case of the disease located in the ankle joint, referred to our clinic with the initial misdiagnosis of a Salter-Harris 3 type fracture of the distal epiphysis of the tibia. After correct diagnosis, the patient was treated surgically with the excision of the cartilaginous masses. Taking an accurate medical history and performing adequate imaging studies is essential in diagnosing and treating this disease. Fracture-like epiphyseal configurations in patients with no history of injury should raise suspicion of periarticular developmental disorders. 2015 BMJ Publishing Group Ltd.
Nagel, J.E.L. van der; Duijvenbode, N. van; Ruedrich, S.L.; Ayu, A.P.; Schellekens, A.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
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…
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...
Cairney, John; Hay, John; Veldhuizen, Scott; Missiuna, Cheryl; Mahlberg, Nadilein; Faught, Brent E.
Background Children with developmental coordination disorder have been found to be less likely to participate in physical activities and therefore may be at increased risk of overweight and obesity. We examined the longitudinal course of relative weight and waist circumference among school-aged children with and without possible developmental coordination disorder. Methods We received permission from 75 (83%) of 92 schools in southwestern Ontario, Canada, to enrol children in the fourth grade (ages 9 and 10 at baseline). Informed consent from the parents of 2278 (95.8%) of 2378 children in these schools was obtained at baseline. The main outcome measures were body mass index (BMI) and waist circumference. Children were followed up over two years, from the spring of 2005 to the spring of 2007. Results Over the course of the study, we identified 111 children (46 boys and 65 girls) who had possible developmental coordination disorder. These children had a higher mean BMI and waist circumference at baseline than did those without the disorder; these differences persisted or increased slightly over time. Children with possible developmental coordination disorder were also at persistently greater risk of overweight (odds ratio [OR] 3.44, 95% confidence interval [CI] 2.34–5.07) and obesity (OR 4.00, 95% CI 2.57–6.21) over the course of the study. Interpretation Our findings showed that children with possible developmental coordination disorder were at greater risk of overweight and obesity than children without the disorder. This risk did not diminish over the study period. PMID:20584932
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.
Giltaij, H.P.; Sterkenburg, P.S.; Schuengel, C.
Background: Children with intellectual disability (ID) are at risk for maladaptive development of social relatedness. Controversy exists whether Pervasive Developmental Disorder (PDD) takes precedence over disordered attachment for describing maladaptive social behaviour. The aim of this study was
Wagner, Matthias Oliver; Bos, Klaus; Jascenoka, Julia; Jekauc, Darko; Petermann, Franz
The aim of this study was to gain insights into the relationship between developmental coordination disorder, peer problems, and behavioral problems in school-aged children where both internalizing and externalizing behavioral problems were considered. We assumed that the relationship between developmental coordination disorder and…
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…
Ray-Kaeser, S.; Satink, T.J.; Andresen, M.; Martini, R.; Thommen, E.; Bertrand, A.M.
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
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
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
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.
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.
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.
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.
Utley, A.; Steenbergen, B.; Astill, S.L.
This study investigated two-handed catching in eight children (four males, four females) aged 7 to 8 years (mean 7y 4mo [SD 3mo]) with developmental coordination disorder (DCD) and their age-matched controls (AMCs). Kinematic data were collected to examine Bernstein's (1967) notion of freezing and
Adams, I.L.; Smits-Engelsman, B.; Lust, J.M.; Wilson, P.H.; Steenbergen, B.
Children with Developmental Coordination Disorder (DCD) experience movement difficulties that may be linked to processes involved in motor imagery (MI). This paper discusses recent advances in theory that underpin the use of MI training for children with DCD. This knowledge is translated in a new MI
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.
Mouridsen, Svend Erik; Hauschild, Karen-Marie
'. 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...
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…
Jelsma, Dorothee; Ferguson, Gilian D.; Smits-Engelsman, Bouwien C.M.; Geuze, Reint H.
Purpose: To explore the differences in learning a dynamic balance task between children with and without probable Developmental Coordination Disorder (p-DCD) from different cultural backgrounds. Participants: Twenty-eight Dutch children with DCD (p-DCD-NL), a similar group of 17 South African
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
Handleman, Jan S.; Harris, Sandra L.
There is increasing evidence that Applied Behavior Analysis (ABA) is an effective, and often superior, method to teach children with Autism Spectrum Disorders ASD), than other methods. The Douglass Developmental Disabilities Center of Rutgers University (DDDC) has been using ABA for more than thirty years to teach toddlers, young children,…
Katartzi, Ermioni S.; Vlachopoulos, Symeon P.
The purpose of the current article is to highlight the potential of self-determination theory (SDT) to inform the teaching practices of physical education (PE) teachers. Such practices may enhance motivational levels for participation in physical activity (PA) for children with developmental coordination disorder (DCD). First, we review the…
Rahimi-Golkhandan, S.; Steenbergen, B.; Piek, J.P.; Wilson, P.H.
Recent research shows that children with motor coordination problems (or developmental coordination disorder - DCD) show deficits in not only cool executive function (EF), but also hot EF. We aimed to determine whether this deficit of hot EF is due to heightened sensitivity to rewarding stimuli,
Rahimi-Golkhandan, S.; Steenbergen, B.; Piek, J.P.; Wilson, P.H.
Recent research shows that children with motor coordination problems (or developmental coordination disorder – DCD) show deficits in not only cool executive function (EF), but also hot EF. We aimed to determine whether this deficit of hot EF is due to heightened sensitivity to rewarding stimuli,
Przysucha, Eryk P.; Taylor, M. Jane; Weber, Douglas
This study compared the nature of postural adaptations and control tendencies, between 7 (n = 9) and 11-year-old boys (n = 10) with Developmental Coordination Disorder (DCD) and age-matched, younger (n = 10) and older (n = 9) peers in a leaning task. Examination of anterior-posterior, medio-lateral, maximum and mean area of sway, and path length…
Nissinen, M J; Gylling, H; Kaski, M; Tammisto, P; Mieskonen, S; Ignatius, J; Miettinen, T A
Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol metabolism in which 7- and 8-dehydrocholesterols are accumulated in blood and tissues. Diagnosis of SLOS and other disorders in cholesterol metabolism (eg, cerebrotendinous xanthomatosis, phytosterolemia, desmosterolosis, and X-linked dominant Conradi-Hünermann-Happle syndrome) can be performed by gas-liquid chromatographic analysis of serum sterols. To elucidate their involvement in developmental disability, we evaluated serum sterols in two study groups: developmentally disabled subjects in long-term care (N = 322) and newborns and young children (N = 49) with features of SLOS in the Finnish population of 5 million. Only 1 SLOS case (type II) was found from among the 49 children. Seven additional adult cases (type I) with a wide range of clinical features and the serum sterol abnormalities characteristic of SLOS were detected from among the developmentally disabled subjects. The frequency of SLOS in the latter group was relatively high (7 in 322). No other hereditary sterol disorders were found, but two subgroups with low serum cholesterol precursor sterols and high serum plant sterols were identified. Several subjects, including the 7 SLOS patients, used ample medication and had abnormalities in serum sterol concentrations. Thus, among the subjects taking melperone, a high serum delta8-cholestenol level suggests an interference by the drug with cholesterol synthesis. Our results emphasize the importance of analyzing the serum sterols of developmentally disabled subjects to diagnose SLOS and of finding putative undiagnosed disorders in sterol metabolism associated with these clinical conditions.
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…
van Rijn, Sophie; Swaab, Hanna; Aleman, Andre
With regard to social-cognitive deficits in autism and psychosis, Crespi & Badcock's (C&B's) theory does not incorporate the developmental context of the disorders. We propose that there is significant overlap in social-cognitive impairments, but that the exact manifestation of social-cognitive
Charman, Tony; Baron-Cohen, Simon; Swettenham, John; Baird, Gillian; Drew, Auriol; Cox, Antony
Background: To examine longitudinal associations between diagnosis, joint attention, play and imitation abilities and language outcome in infants with autism and pervasive developmental disorder. Methods and Procedures: Experimental measures of joint attention, play and imitation were conducted with a sample of infants with autism spectrum…
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…
Rivilis, Irina; Liu, Jian; Cairney, John; Hay, John A.; Klentrou, Panagiota; Faught, Brent E.
The purpose of this prospective cohort study was to assess how cardiorespiratory fitness (CRF) of children with probable developmental coordination disorder (DCD) changes over a period of 4.7 years relative to a group of typically developing controls. A school-based sample of children in a large region of Ontario, Canada with 75 out of a possible…
Chirico, Daniele; O'Leary, Deborah; Cairney, John; Klentrou, Panagiota; Haluka, Karen; Hay, John; Faught, Brent
Children with developmental coordination disorder (DCD) are more likely to develop cardiovascular disease risk factors such as obesity and reduced cardio-respiratory fitness. However, there is limited data using laboratory measures for assessing the risk of cardiovascular disease associated with DCD. The purpose of this study was to examine…
Cairney, John; Kwan, Matthew Y. W.; Hay, John A.; Faught, Brent E.
Background: To examine whether differences in participation in active play (PAP) can account for gender differences in the relationship between Developmental Coordination Disorder (DCD) and body weight/fat (BMI and percentage fat) in youth. Methods: A cross-sectional investigation of students in grades four through eight (n = 590). Height, weight…
Rivilis, Irina; Hay, John; Cairney, John; Klentrou, Panagiota; Liu, Jian; Faught, Brent E.
Developmental coordination disorder (DCD) is a neurodevelopmental condition characterized by poor motor proficiency that interferes with a child's activities of daily living. Activities that most young children engage in such as running, walking, and jumping are important for the proper development of fitness and overall health. However, children…
Chirico, Daniele; O'Leary, Deborah; Cairney, John; Haluka, Karen; Coverdale, Nicole S.; Klentrou, Panagiota; Hay, John; Faught, Brent E.
Children with developmental coordination disorder (DCD) are more likely to develop cardiovascular disease (CVD) risk factors such as obesity and reduced cardio-respiratory fitness. It has also been shown that adolescents with probable DCD (p-DCD) have elevated cardiac output (CO) and stroke volume (SV) compared to typically developing (TD)…
Cairney, John; Hay, John; Mandigo, James; Wade, Terrance; Faught, Brent E.; Flouris, Andreas
Children with developmental coordination disorder (DCD) are less likely to enjoy participating in physical education (PE) than children without motor coordination difficulties. However, no studies have attempted to quantify this relationship or examine potentially modifiable mediating variables. Using a large sample (N = 590) of children (aged 9…
Coverdale, Nicole S.; O'Leary, Deborah D.; Faught, Brent E.; Chirico, Daniele; Hay, John; Cairney, John
Developmental coordination disorder (DCD) is a neurodevelopmental condition characterized by poor motor skills leading to a significant impairment in activities of daily living. Compared to typically developing children, those with DCD are less fit and physically active, and have increased body fat. This is an important consequence as both…
A review of research on the adaptive behavior of persons with both mental retardation and autism/pervasive developmental disorder finds the performances of these dually disabled individuals to be particularly poor in the domain of social skills/socialization and somewhat less poor in the communication domain. In addition, autistic mentally…
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
Engel-Yeger, Batya; Hanna-Kassis, Amany; Rosenblum, Sara
The aims of the study were to analyze: (1) whether significant differences exist between children with typical development and children with developmental coordination disorders (DCD) in their preference to participate in leisure activities (2) whether the teacher estimation of activity form (TEAF) evaluation predicts participation preference.…
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…
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
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…
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.…
Koenig, Kathleen; White, Susan Williams; Pachler, Maryellen; Lau, Monika; Lewis, Moira; Klin, Ami; Scahill, Lawrence
A randomized controlled design was employed to evaluate a social skills intervention for children with pervasive developmental disorders. Aims included evaluating the acceptability of the program and gathering preliminary evidence on efficacy. Forty-four children, ages 8-11 years, were randomly assigned to treatment or wait list. Treatment…
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 anticlockwise.…
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…
McGregor, Karla K.; Gordon, Katherine; Eden, Nichole; Arbisi-Kelm, Tim; Oleson, Jacob
Purpose: The aim of this study was to determine whether the word-learning challenges associated with developmental language disorder (DLD) result from encoding or retention deficits. Method In Study 1, 59 postsecondary students with DLD and 60 with normal development (ND) took the California Verbal Learning Test-Second Edition, Adult Version…
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 (i) DLD is best understood as missing knowledge of certain linguistic operations/elements or as unreliable performance and (ii) if comprehension of sentences with anaphoric expressions as objects and exceptionally case marked (ECM)…
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…
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…
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
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…
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.
Nikolov, Roumen N.; Bearss, Karen E.; Lettinga, Jelle; Erickson, Craig; Rodowski, Maria; Aman, Michael G.; McCracken, James T.; McDougle, Christopher J.; Tierney, Elaine; Vitiello, Benedetto; Arnold, L. Eugene; Shah, Bhavik; Posey, David J.; Ritz, Louise; Scahill, Lawrence
Objective To evaluate gastrointestinal (GI) problems in a large, well-characterized sample of children with pervasive developmental disorders (PDDs). Methods One hundred seventy two children entering one of two trials conducted by the Research Units on Pediatric Psychopharmacology (RUPP) Autism
Meronen, Auli; Tiippana, Kaisa; Westerholm, Jari; Ahonen, Timo
Purpose: The effect of the signal-to-noise ratio (SNR) on the perception of audiovisual speech in children with and without developmental language disorder (DLD) was investigated by varying the noise level and the sound intensity of acoustic speech. The main hypotheses were that the McGurk effect (in which incongruent visual speech alters the…
Alloway, Tracy Packiam
The aim of the present study was investigate the relationship between working memory and reading and mathematical skills in 55 children diagnosed with developmental coordination disorder (DCD). The findings indicate a pervasive memory deficit in all memory measures. In particular, deficits observed in visuospatial short-term and working memory…
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.
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…
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…
Kover, Sara T.; McDuffie, Andrea S.; Hagerman, Randi J.; Abbeduto, Leonard
In light of evidence that receptive language may be a relative weakness for individuals with autism spectrum disorder (ASD), this study characterized receptive vocabulary profiles in boys with ASD using cross-sectional developmental trajectories relative to age, nonverbal cognition, and expressive vocabulary. Participants were 49 boys with ASD…
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…
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…
Brosseau-Lapré, Françoise; Rvachew, Susan
This study examined the psycholinguistic profiles of Quebec French-speaking children with developmental phonological disorders (DPD). The purpose was to determine whether the endophenotypes that have been identified in English-speaking children with DPD are similarly associated with speech impairment in French-speaking children. Seventy-two…
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
Terband, H.R.; Maassen, B.A.M.; Lieshout, P. van; 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(/pas/) by 10 6- to 9-year-olds with
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…
de Bildt, A; Sytema, S; Kraijer, D; Minderaa, R
Background: Insight into the prevalence of pervasive developmental disorder (PDD) in children and adolescents with mental retardation (MR) is known to be of clinical importance. However, estimating this prevalence is complicated. The literature reports prevalence rates ranging from 3% through 50%.
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…
Jelsma, L.D.; Smits-Engelsman, B. C. M.; Krijnen, W. P.; Geuze, R.H.
The aim of this study was to examine differences in underlying adaptations of dynamic balance in children with and without Developmental Coordination Disorder (DCD) during a Wii Fit game and to measure changes over time and after intervention. Twenty-eight children with DCD and 21 typically
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…
Wuang, Yee-Pay; Su, Chwen-Yng; Su, Jui-Hsing
The primary purpose of this study was to investigate and compare the executive functions measured by the Wisconsin Card Sorting Test (WCST) between children with developmental coordination disorder (DCD) and age-matched normal controls. A second purpose was to examine the relations between executive functions and school functions in DCD children.…
Beutum, Monique Natalie; Cordier, Reinie; Bundy, Anita
The association between motor proficiency and moderate to vigorous physical activity (MVPA) suggests children with developmental coordination disorder (DCD) may be susceptible to inactivity-related conditions such as cardiovascular diseases. The aim of this study was to compare children with and without DCD on physical activity patterns, activity…
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,
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…
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
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
Soriano, Deborah; Paul, Rhea
Eighteen people (with ages ranging from 7 to 22 years) who had been diagnosed as aphasic 10 years previously were assessed in terms of current functioning to test the hypothesis that, since the subjects had a specific language disorder, other areas of adaptive development should be relatively spared, and communication scores should be…
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…
Biotteau, Maëlle; Albaret, Jean-Michel; Lelong, Sandrine; Chaix, Yves
Developmental dyslexia (DD) and developmental coordination disorder (DCD) co-occur frequently, raising the underlying question of shared etiological bases. We investigated the cognitive profile of children with DD, children with DCD, and children with the dual association (DD + DCD) to determine the inherent characteristics of each disorder and explore the possible additional impact of co-morbidity on intellectual, attentional, and psychosocial functioning. The participants were 8- to 12-year-olds (20 DD, 22 DCD, and 23 DD + DCD). Cognitive abilities were assessed by the Wechsler Intelligence Scale for Children - Fourth Edition (WISC-IV) and the Continuous Performance Test - Second Edition (CPT-II) and behavioral impairments were evaluated by the Child Behavior Checklist (CBCL). No differences were found between the three groups on attention testing (CPT-II) or psychosocial characteristics (CBCL), but a higher percentage of DD + DCD children had pathological scores on psychosocial scales. Significant between-group differences were observed on Processing Speed Index scores and the block design and symbol search subtests, where DD children fared better than DCD children. No significant differences were evident between the co-morbid vs. the pure groups. Our results clearly show significant differences between children with DD only and children with DCD only. In particular, visuo-spatial disabilities and heterogeneity of intellectual profile seem to be good markers of DCD. However, it should be noted that despite these distinct and separate characteristics, a common cognitive profile (weaknesses and strengths) is likely shared by both neurodevelopmental disorders. Surprisingly, concerning co-morbidity, DD + DCD association is not associated with a decrease in intellectual or attentional capacities.
Elberling, Hanne; Linneberg, Allan; Olsen, Else Marie
BACKGROUND: Epidemiological studies infancy predictors of mental disorders are scarce. METHODS: The study is part of a longitudinal birth-cohort study, The Copenhagen Child Cohort CCC2000. Infant mental health and development and mother-infant relations were assessed by community health nurses from...... 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...
Jamilian, H R; Zamani, N; Darvishi, M; Khansari, M R
We need to find a way for adaptation with inherent unpleasantness of being human condition and conflicts that it caused, as we did not fail. Methods that we used for adaptation are named defense. This research have performed with the aim of study and compare defensive mechanisms and methods of Developmental, Emotional (Internalization), and Disruptive behavior (Externalization) disorders. Method, sample of this research included 390 family that are by available sampling method are selected. Tools of research were structured clinical interview of forth cognitive and statistical guide of psychopathic disorders for axis I and the way used for assess defensive mechanisms is defensive method 40 question's questionnaires of Andrews (1993). The data are compared by statistical methods comparison of averages and one way variance analysis and HSD tests and results show that undeveloped defensive mechanisms in by developmental disorder family (25.2 ± 3.7) mean and standard deviation, it is most used mechanism and in disruptive behavior disorder family by (11.2 ± 1.9) mean and standard deviation is used least mechanism and in developed mechanism of emotional disorder family by (7.8 ± 3.1) mean and standard deviation is most used mechanism and in developmental disorder family by (4.3 ± 1.5) mean and standard deviation is least mechanism in neuroticism patient, social phobia affected emotional disorder family (15.6 ± 2.6) and disruptive behavior disorder family have least mean and standard deviation (9.2 ± 1.7) (p< 0.005). Recent research shows significant of study defensive mechanism in psychopathic family of disorder children that affecting on the way of life of persons and interpersonal and intrapersonal relations and method of solving problem in family of them in life, so defensive mechanisms require more attention.
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.
Benke, Dietmar; Möhler, Hanns
Animal studies of several single-gene disorders demonstrate that reversing the molecular signaling deficits can result in substantial symptomatic improvements in function. Focusing on the ratio of excitation to inhibition as a potential pathophysiological hallmark, seven single-gene developmental CNS disorders are reviewed which are characterized by a striking dysregulation of neuronal inhibition. Deficits in inhibition and excessive inhibition are found. The examples of developmental disorders encompass Neurofibromatosis type 1, Fragile X syndrome, Rett syndrome, Dravet syndrome including autism-like behavior, NONO-mutation-induced intellectual disability, Succinic semialdehyde dehydrogenase deficiency and Congenital nystagmus due to FRMD7 mutations. The phenotype/genotype correlations observed in animal models point to potential treatment options and will continue to inspire clinical research. Three drugs are presently in clinical trials: acamprosate and ganoxolon for Fragile X syndrome and SGS-742 for SSADH deficiency. Copyright © 2017 Elsevier Ltd. All rights reserved.
Gomez, Alice; Sirigu, Angela
Among developmental disorders, DCD is one of the least studied and less understood one (Bishop, 2010). This review summarizes the current understanding of developmental coordination disorder in neuropsychology with a focus mainly on high level sensorimotor impairments, its etiology and its neural bases. We summarize these core deficits in the framework of an influent motor control model (Blakemore et al., 2002). DCD has several environmental risk factors which probably interplay with genetic factors but those have not been sufficiently identified. High-level sensori-motor deficits are probably multifactorial in DCD and involve predictive coding deficits as well as weaknesses in perceptual and sensory integration. At the brain level, DCD is associated with impaired structure and functions within the motor network. Throughout the review we highlight exciting new findings as well as potential future lines of research to provide a more comprehensive understanding of this disorder. Copyright © 2015. Published by Elsevier Ltd.
Iaria, Giuseppe; Barton, Jason J S
A variety of lesions in different cerebral regions may affect the human ability to orient in the environment, resulting in 'topographical disorientation'. In a recent study, we documented the first case of Developmental Topographical Disorientation (DTD), in a person with a life-long inability to orient despite otherwise well-preserved cognitive functions, and in the absence of a cerebral injury/malformation or other neurological condition. This selective topographical disorientation was due to her inability to form a 'cognitive map', a mental representation of the environment, which in turn impaired her ability to orient in both familiar and unfamiliar surroundings. Here, we describe 120 new cases of DTD recruited via the internet and assessed with an online battery testing their cognitive and orientation skills. We found that people with DTD differ from matched (age, gender and education) healthy controls only in those skills confined to the orientation/navigation domain, among which the ability to form a cognitive map was the most significant factor that distinguished a person affected by DTD from control subjects.
Background: Deficits in reading airment (SLI), Down syndrome (DS) and autism spectrum disorders (ASD).\\ud \\ud Methods: In this review (based on a search of the ISI Web of Knowledge database to 2011), the Simple View of Reading is used as a framework for considering reading comprehension in these groups.\\ud \\ud Conclusions: There is substantial evidence for reading comprehension impairments in SLI and growing evidence that weaknesses in this domain are common in DS and ASD. Further, in thes...
Gul, Hesna; Erol, Nese; Akin, Duygu Pamir; Gullu, Belgin Ustun; Akcakin, Melda; Alpas, Başak; Öner, Özgür
Emotional availability (EA) is a method to assess early parent-child dyadic interactions for emotional awareness, perception, experience, and expression between child and parent that describe global relational quality (Z. Biringen & M. Easterbrooks, 2012). The current study aimed to examine the effects of an infant's diagnosis of autism spectrum disorders (ASDs), other psychiatric disorders (OPD), and developmental delay (DD) on the maternal EA Scale (EAS; Z. Biringen & M. Easterbrooks, 2012; Z. Biringen, J.L. Robinson, & R.N. Emde, 2000) scores and the relative contributions of infant's age, gender, diagnosis, developmental level, and maternal education on EAS scores in a clinical Turkish sample. Three hundred forty-five infant-mother dyads participated in this study. Results of the research indicated that EAS adult scores were associated with maternal education and infant's diagnosis whereas child scores were associated with infant's age, diagnosis, and developmental level. Infants' involvement and responsiveness to the mother were lower in the group with ASD. Children with OPD, particularly when their mothers have lower education, might be at increased risk of having problems in parent-child interactions. Young ASD subjects with developmental delay are in greatest need of support to increase reactions toward their mother. These findings underscore the importance of using all of the EA dimensions rather than only one measure on children in high-risk populations. © 2016 Michigan Association for Infant Mental Health.
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.
Monfort, Isabelle; Monfort, Marc
There have been several proposals for the classification of language disorders in children; some of them are based on the desire to differentiate in terms of its possible cause, while others are based on the criteria for symptoms grouping ('syndromes'), in order to facilitate the diagnostic process and orientate some intervention programs. In the first part, there is an analysis of the advantages and limitations of the most popular classifications, pointing to the inaccuracy on description basis and to the inability to distinguish between several subgroups. In the second part, it is analysed the clinical purpose of using these nomenclatures. Finally, the idea of using a clinical tool is proposed, in order to include the severity criteria of symptoms in the differential diagnosis.
Bakalar, Jennifer L; Shank, Lisa M; Vannucci, Anna; Radin, Rachel M; Tanofsky-Kraff, Marian
The Diagnostic and Statistical Manual of Mental Disorders (i.e., DSM-5) currently recognizes three primary eating disorders: anorexia nervosa, bulimia nervosa, and binge eating disorder. The origins of eating disorders are complex and remain poorly understood. However, emerging research highlights a dimensional approach to understanding the multifactorial etiology of eating disorders as a means to inform assessment, prevention, and treatment efforts. Guided by research published since 2011, this review summarizes recent findings elucidating risk factors for the development of eating disorders across the lifespan in three primary domains: (1) genetic/biological, (2) psychological, and (3) socio-environmental. Prospective empirical research in clinical samples with full-syndrome eating disorders is emphasized with added support from cross-sectional studies, where relevant. The developmental stages of puberty and the transition from adolescence to young adulthood are discussed as crucial periods for the identification and prevention of eating disorders. The importance of continuing to elucidate the mechanisms underlying gene by environmental interactions in eating disorder risk is also discussed. Finally, controversial topics in the field of eating disorder research and the clinical implications of this research are summarized.
Mouridsen, Svend Erik; Hauschild, Karen-Marie
as having a DLD were compared with SUDs in 2,345 matched controls from the general population without a known history of DLD using data from the nationwide Danish Psychiatric Central Register (DPCR). The average observation time was 34.7 years, and the mean age at follow-up was 35.8 years. Results......Objective: To study the prevalence and types of substance use disorders (SUDs) in adults diagnosed during childhood as having a developmental language disorder (DLD). Patients and Methods: The prevalence rates and types of SUDs in a clinical sample of 469 individuals diagnosed during childhood.......03). Variables at assessment in childhood, i.e. gender, IQ, the presence of a receptive language disorder, and the degrees of receptive and expressive language disorders were not associated with an SUD diagnosis in the DPCR at follow-up. Conclusion: Our findings do not support the hypothesis that DLD is a risk...
Robotham, Ro J.; Starrfelt, Randi
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...... 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....
Blum, Kenneth; Oscar-Berman, Marlene; Demetrovics, Zsolt; Barh, Debmalya; Gold, Mark S
We have published extensively on the neurogenetics of brain reward systems with reference to the genes related to dopaminergic function in particular. In 1996, we coined "Reward Deficiency Syndrome" (RDS), to portray behaviors found to have gene-based association with hypodopaminergic function. RDS as a useful concept has been embraced in many subsequent studies, to increase our understanding of Substance Use Disorder (SUD), addictions, and other obsessive, compulsive, and impulsive behaviors. Interestingly, albeit others, in one published study, we were able to describe lifetime RDS behaviors in a recovering addict (17 years sober) blindly by assessing resultant Genetic Addiction Risk Score (GARS™) data only. We hypothesize that genetic testing at an early age may be an effective preventive strategy to reduce or eliminate pathological substance and behavioral seeking activity. Here, we consider a select number of genes, their polymorphisms, and associated risks for RDS whereby, utilizing GWAS, there is evidence for convergence to reward candidate genes. The evidence presented serves as a plausible brain-print providing relevant genetic information that will reinforce targeted therapies, to improve recovery and prevent relapse on an individualized basis. The primary driver of RDS is a hypodopaminergic trait (genes) as well as epigenetic states (methylation and deacetylation on chromatin structure). We now have entered a new era in addiction medicine that embraces the neuroscience of addiction and RDS as a pathological condition in brain reward circuitry that calls for appropriate evidence-based therapy and early genetic diagnosis and that requires further intensive investigation.
The 'rapid temporal processing' and the 'temporal sampling framework' hypotheses have been proposed to account for the deficits in language and literacy development seen in specific language impairment and dyslexia. This paper reviews these hypotheses and concludes that the proposed causal chains between the presumed auditory processing deficits and the observed behavioural manifestation of the disorders are vague and not well established empirically. Several problems and limitations are identified. Most data concern correlations between distantly related tasks, and there is considerable heterogeneity and variability in performance as well as concerns about reliability and validity. Little attention is paid to the distinction between ostensibly perceptual and metalinguistic tasks or between implicit and explicit modes of performance, yet measures are assumed to be pure indicators of underlying processes or representations. The possibility that diagnostic categories do not refer to causally and behaviourally homogeneous groups needs to be taken seriously, taking into account genetic and neurodevelopmental studies to construct multiple-risk models. To make progress in the field, cognitive models of each task must be specified, including performance domains that are predicted to be deficient versus intact, testing multiple indicators of latent constructs and demonstrating construct reliability and validity.
clinics at both sites and via IRB approved advertising. Participants were diagnosed with autistic disorder, Asperger disorder, or pervasive developmental...versus Asperger disorder and PDD NOS combined). The least squares means were derived for each treatment by week combination. (Least squares means were...expression, mouth (open or closed), age group, gender, and ASD status (autistic disorder versus Asperger disorder and PDD NOS combined). The least
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
Wakefield, A J; Murch, S H; Anthony, A; Linnell, J; Casson, D M; Malik, M; Berelowitz, M; Dhillon, A P; Thomson, M A; Harvey, P; Valentine, A; Davies, S E; Walker-Smith, J A
We investigated a consecutive series of children with chronic enterocolitis and regressive developmental disorder. 12 children (mean age 6 years [range 3-10], 11 boys) were referred to a paediatric gastroenterology unit with a history of normal development followed by loss of acquired skills, including language, together with diarrhoea and abdominal pain. Children underwent gastroenterological, neurological, and developmental assessment and review of developmental records. Ileocolonoscopy and biopsy sampling, magnetic-resonance imaging (MRI), electroencephalography (EEG), and lumbar puncture were done under sedation. Barium follow-through radiography was done where possible. Biochemical, haematological, and immunological profiles were examined. Onset of behavioural symptoms was associated, by the parents, with measles, mumps, and rubella vaccination in eight of the 12 children, with measles infection in one child, and otitis media in another. All 12 children had intestinal abnormalities, ranging from lymphoid nodular hyperplasia to aphthoid ulceration. Histology showed patchy chronic inflammation in the colon in 11 children and reactive ileal lymphoid hyperplasia in seven, but no granulomas. Behavioural disorders included autism (nine), disintegrative psychosis (one), and possible postviral or vaccinal encephalitis (two). There were no focal neurological abnormalities and MRI and EEG tests were normal. Abnormal laboratory results were significantly raised urinary methylmalonic acid compared with age-matched controls (p=0.003), low haemoglobin in four children, and a low serum IgA in four children. We identified associated gastrointestinal disease and developmental regression in a group of previously normal children, which was generally associated in time with possible environmental triggers.
Biederman, Joseph; Petty, Carter R; Hirshfeld-Becker, Dina R.; Henin, Aude; Faraone, Stephen V; Fraire, Maria; Henry, Brianne; McQuade, Julia; Rosenbaum, Jerrold F.
The objective of this study was to evaluate the longitudinal course of psychiatric disorders in children of parents with and without panic disorder and major depression as they transition through the period of risk from early to late childhood. Over a 5-year follow-up, we compared the course of psychiatric disorders in offspring of parents with panic disorder, major depression, or neither disorder. Subjects consisted of 233 offspring (from 151 families) with baseline and follow-up assessments...
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
Alloy, Lauren B; Abramson, Lyn Y; Urosevic, Snezana; Walshaw, Patricia D; Nusslock, Robin; Neeren, Amy M
In this article, we review empirical research on the role of individuals' current environmental contexts, cognitive styles, and developmental histories as risk factors for the onset, course, and expression of bipolar spectrum disorders. Our review is focused on the following over arching question: Do psychosocial factors truly contribute risk to the onset, course, or expression of bipolar disorders? As a secondary issue, we also address whether the psychosocial risks for bipolar disorders are similar to those for unipolar depression. We begin by discussing the methodological requirements for demonstrating a psychosocial risk factor and the challenges posed by bipolar spectrum disorders for psychosocial risk research. Next, we review the extant studies on the role of recent life events and supportive and non-supportive social interactions (current environment) in bipolar disorders, as well as psychosocial treatments designed to remediate these current environmental factors. We then review the role of cognitive styles featured as vulnerabilities in theories of unipolar depression as risk factors for bipolar disorder alone and in combination with life events, including studies of cognitive-behavioral therapies for bipolar disorder. Finally, we review studies of parenting and maltreatment histories in bipolar disorders. We conclude with an assessment of the state of the psychosocial risk factors literature in bipolar disorder with regard to our guiding questions.
Li, Wangzhi; Mills, Alea A
Chromatin is vital to normal cells, and its deregulation contributes to a spectrum of human ailments. An emerging concept is that aberrant chromatin regulation culminates in gene expression programs that set the stage for the seemingly diverse pathologies of cancer, developmental disorders and neurological syndromes. However, the mechanisms responsible for such common etiology have been elusive. Recent evidence has implicated lesions affecting chromatin-remodeling proteins in cancer, developmental disorders and neurological syndromes, suggesting a common source for these different pathologies. Here, we focus on the chromodomain helicase DNA binding chromatin-remodeling family and the recent evidence for its deregulation in diverse pathological conditions, providing a new perspective on the underlying mechanisms and their implications for these prevalent human diseases.
Zhu, Jin Liang; Olsen, Jørn; Olesen, Annette W
BACKGROUND: Studies suggest that children born very preterm have a high risk of developmental coordination disorder (DCD). We examined the relation between the larger spectrum of gestational age at birth and the risk of DCD. METHODS: We used the 7-year follow-up data from 22898 singletons...... in the Danish National Birth Cohort. We calculated a total score from the Developmental Coordination Disorder Questionnaire (DCDQ), incorporated in the 7-year follow-up, and defined children with a score of 46 or below as having probable DCD. Information on gestational age was obtained from the Medical Birth...... Register. RESULTS: Gestational age at birth was inversely associated with the risk of DCD; a decline in gestational age by a week was associated with a 19% [95% confidence interval 14%, 25%] increased risk of DCD screening positive among children delivered before 40 weeks. No significant increased risk...
Kover, Sara T.; McDuffie, Andrea S.; Hagerman, Randi J.; Abbeduto, Leonard
In light of evidence that receptive language may be a relative weakness for individuals with autism spectrum disorder (ASD), this study characterized receptive vocabulary profiles in boys with ASD using cross-sectional developmental trajectories relative to age, nonverbal cognition, and expressive vocabulary. Participants were 49 boys with ASD (4–11 years) and 80 typically developing boys (2–11 years). Receptive vocabulary, assessed with the Peabody Picture Vocabulary Test, was a weakness for...
Bieber, Eleonora; Smits-Engelsman, Bouwien C. M.; Sgandurra, Giuseppina; Cioni, Giovanni; Feys, Hilde; Guzzetta, Andrea; Klingels, Katrijn
This study systematically reviewed the clinical and psychometric properties of manual function outcome measures for children with developmental coordination disorder (DCD) aged 3-18 years. Three electronic databases were searched to identify manual function tools at the ICF-CY body function, activity and participation level used in children with DCD. Study selection and data extraction was conducted by two blind assessors according to the CanChild Outcome Measures Rating Form. Nineteen clinic...
Prahbhjot Malhi; Pratibha Singhi
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, metabo...
Landa, Rebecca J; Stuart, Elizabeth A; Alden L Gross; 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...
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…
Banu Tortamış ÖZKAYA
Full Text Available Children diagnosed with PDD (Pervasive Developmental Disorders cannot effectively use the socialinteraction channels which significantly limit their participation in social life. The rapid increase in thenumber of children diagnosed with PDD led to the advancement and diversification of social skill interventionprograms. Social stories targeting to support the social development of children diagnosed with PDD wereexamined within a theoretical and applied framework in this study. Furthermore, recommendations weremade to introduce and implement social stories in the field of special education.
Lee, Alice S.; Gibbon, Fiona E.
Background: Children with developmental speech sound disorders have difficulties in producing the speech sounds of their native language. These speech difficulties could be due to structural, sensory or neurophysiological causes (e.g. hearing impairment), butmore often the cause of the problem is unknown. One treatment approach used by speech-language therapists/pathologists is non-speech oral motor treatment (NSOMT). NSOMTs are non-speech activities that aim to stimulate or improve speech pr...
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...
Biederman, Joseph; Petty, Carter R; Hirshfeld-Becker, Dina R; Henin, Aude; Faraone, Stephen V; Fraire, Maria; Henry, Brianne; McQuade, Julia; Rosenbaum, Jerrold F
The objective of this study was to evaluate the longitudinal course of psychiatric disorders in children of parents with and without panic disorder and major depression as they transition through the period of risk from early to late childhood. Over a 5-year follow-up, we compared the course of psychiatric disorders in offspring of parents with panic disorder, major depression, or neither disorder. Subjects consisted of 233 offspring (from 151 families) with baseline and follow-up assessments. Subjects were comprehensively assessed with structured diagnostic interviews. Anxiety disorders at baseline were used to predict anxiety disorders and major depression at follow-up using stepwise logistic regression. Separation anxiety disorder significantly increased the risk for the subsequent development of specific phobia, agoraphobia, panic disorder, and major depression, even after parental panic and depression were covaried. Agoraphobia significantly increased the risk for subsequent generalized anxiety disorder. These findings suggest that separation anxiety disorder is a major antecedent disorder for the development of panic disorder and a wide range of other psychopathological outcomes, and that it increases the risk for subsequent psychopathology even among children already at high familial risk for anxiety or mood disorder.
Eaves, Ronald C; Williams, Thomas O
In this study, the authors examined the construct validity of the Pervasive Developmental Disorder Rating Scale (PDDRS; R. C. Eaves, 1993), which is a screening instrument used to identify individuals with autistic disorder and other pervasive developmental disorders. The PDDRS is purported to measure 3 factors--arousal, affect, and cognition-that collectively make up the construct of autism. Using scores from 199 children (aged 1-6 years) diagnosed with autistic disorder, the authors submitted data to exploratory and confirmatory factor analyses. In the 1st series of analyses, the authors analyzed a user-specified 3-factor solution using principal axis factor analysis with a promax rotation to evaluate the assertion of a correlated 3-factor structure. Next, the authors analyzed 1-factor and 2-factor solutions to determine if they provided a better factor structure for the data. In the 2nd series, the authors conducted confirmatory factor analyses, which compared the theorized hierarchical 2nd-order factor model with 5 plausible competing models. The results of the exploratory analyses supported the 3-factor solution. With the confirmatory analyses, the 2nd-order factor model provided the best fit for the data. The exploratory and confirmatory analyses supported the theoretical assumptions undergirding the development of the PDDRS. The authors discuss theoretical implications, practical implications, and areas for further research.
Giltaij, H. P.; Sterkenburg, P. S.; Schuengel, C.
Background: Children with intellectual disability (ID) are at risk for maladaptive development of social relatedness. Controversy exists whether Pervasive Developmental Disorder (PDD) takes precedence over disordered attachment for describing maladaptive social behaviour. The aim of this study was to assess the prevalence of disordered attachment…
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
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.
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.
Blauw-Hospers, C. H.; de Graaf-Peters, V. B.; Dirks, T.; Bos, A. F.; Hadders-Algra, M.
Infants at high risk for developmental motor disorders are in general referred to early intervention (EI) services. It is a matter of debate to which extent El may facilitate outcome in various developmental domains. We reviewed the effects of El programmes aiming at promoting rnotor and cognitive
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…
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
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.
Waris, Petra; Tani, Pekka; Lindberg, Nina; Lipsanen, Jari; Kettunen, Kirsi; Kaltiala-Heino, Riittakerttu; Saarimaa, Leena-Kaisa; Reinvall, Outi; Voutilainen, Arja; Hokkanen, Laura
Schizophrenia (SCH) and pervasive developmental disorders (PDDs) belong to different diagnostic categories. There is, however, overlap between these 2 diagnostic groups. The aim of this preliminary study was to evaluate some aspects of neurocognitions and social cognitions in adolescents with SCH (n = 10, 2 boys and 8 girls; age range = 13.3-17.7 years), a PDD (n = 15, 7 boys and 8 girls; age range = 13.3-18.0 years), or both disorders (n = 8, 5 boys and 3 girls; age range = 13.5-18 years). Eight subtests (Information, Similarities, Arithmetic, Comprehension, Picture Completion, Coding B, Block Design, and Object Assembly) of the Wechsler Intelligence Scale for Children-Third Version and 2 subtests (Theory of Mind [ToM] and Affect Recognition) of the NEPSY-II were administered. Adolescents with both disorders and those with a PDD only performed better on visual processing tasks than did adolescents with SCH only. On the other hand, adolescents with both disorders as well as those with SCH only experienced more problems with processing speed than did adolescents with a PDD only. Adolescents with SCH only performed significantly more poorly with verbal ToM tasks compared with those with a PDD only. Adolescents with both disorders performed as well as those with SCH only. All in all, our preliminary findings support the current idea that SCH and PDDs are separate disorders.
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.
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
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 (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).
Przybylski, Lauranne; Bedoin, Nathalie; Krifi-Papoz, Sonia; Herbillon, Vania; Roch, Didier; Léculier, Laure; Kotz, Sonja A; Tillmann, Barbara
Children with developmental language disorders have been shown to be impaired not only in language processing (including syntax), but also in rhythm and meter perception. Our study tested the influence of external rhythmic auditory stimulation (i.e., musical rhythm) on syntax processing in children with specific language impairment (SLI; Experiment 1A) and dyslexia (Experiment 1B). Children listened to either regular or irregular musical prime sequences followed by blocks of grammatically correct and incorrect sentences. They were required to perform grammaticality judgments for each auditorily presented sentence. Performance of all children (SLI, dyslexia, and controls) in the grammaticality judgments was better after regular prime sequences than after irregular prime sequences, as shown by d' data. The benefit of the regular prime was stronger for SLI children (partial η2 = .34) than for dyslexic children (partial η2 = .14), who reached higher performance levels. Together with previous findings on deficits in temporal processing and sequencing, as well as with the recent proposition of a temporal sampling (oscillatory) framework for developmental language disorders (U. A. Goswami, 2011, Temporal sampling framework for developmental dyslexia, Trends in Cognitive Sciences, Vol. 15, pp. 3-10), our results point to potential avenues in using rhythmic structures (even in nonverbal materials) to boost linguistic structure processing.
Magallón, Sara; Crespo-Eguílaz, Nerea; Narbona, Juan
The aim is to assess repetition-based learning of procedures in children with developmental coordination disorder (DCD), reading disorder (RD) and attention-deficit hyperactivity disorder (ADHD). Participants included 187 children, studied in 4 groups: (a) DCD comorbid with RD and ADHD (DCD+RD+ADHD) (n = 30); (b) RD comorbid with ADHD (RD+ADHD) (n = 48); (c) ADHD (n = 19); and typically developing children (control group) (n = 90). Two procedural learning tasks were used: Assembly learning and Mirror drawing. Children were tested on 4 occasions for each task: 3 trials were consecutive and the fourth trial was performed after an interference task. Task performance by DCD+RD+ADHD children improved with training (P learning abilities. © The Author(s) 2015.
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
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. (c) 2007 APA, all rights reserved
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), major inhibitory and excitatory 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
Tsai, Chia-Liang; Chang, Yu-Kai; Hung, Tsung-Min; Tseng, Yu-Ting; Chen, Tzu-Chi
The objective of this study was to investigate the mechanisms underlying the deficit in visuospatial working memory (VSWM) seen in children with developmental coordination disorder (DCD) and to compare brain activity while performing a VSWM task in children with DCD and typically developing children. Behavioural performance and event-related potentials (ERPs) were recorded in 24 children (12 males, 12 females; mean age 139 mo, SD 4 mo) with DCD (as determined by a score ERP data suggests that children with DCD have deficits of visuospatial working memory owing to fewer resources being allocated to comparison of spatial locations, less effort allotted to the response selection, and less neural processing employed during the retrieval process phase. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
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. Children completed motor and face processing assessments. Parents completed questionnaires concerning their child's early motor and current motor and social skills. There was considerable overlap between the ASD and DCD groups on the motor and social assessments, with both groups more impaired than controls. Furthermore, motor skill predicted social functioning for both groups. Future research should consider the relationships between core symptoms and their consequences in other domains.
Fordyce, Tiffani A; Leonhard, Megan J; Chang, Ellen T
Autism spectrum disorder (ASD) and attention deficit (hyperactivity) disorder (ADD/ADHD) are key focuses of current health research due to their increasing prevalence. The objective of this systematic literature search and critical review was to evaluate whether the human epidemiologic data indicate a pattern of association between ASD or ADD/ADHD and developmental exposure to particulate matter (PM), with a focus on exposures encountered before the age of three. A MEDLINE and EMBASE search was conducted; following preliminary and full-text screening, 14 relevant articles were identified for review. Three of the 14 studies were prospective cohort studies evaluating exposure to PM10; 11 studies had a case-control design. There was no consistent association between developmental PM exposure and ASD across the three of the cohort studies. Seven of the case-control studies examined the relationship between PM2.5 and/or PM10 and ASD; four examined the relationship between developmental diesel PM exposure and ASD. Overall, there was low external consistency in results among studies of PM2.5/PM10 and ASD, with some reporting high internal consistency without significant associations, others showing associations with high internal consistency for specific exposure windows only (e.g., third trimester), and still others showing high consistency for moderate to strong associations between PM and ASD. The majority of studies reporting significant results had low effect sizes in conjunction with small sample sizes. The four studies of diesel PM and ASD also had low external consistency of results. Only one study evaluated associations with ADD/ADHD, and it found no significant associations with PM10. The inconsistent findings across studies of developmental exposure to PM and ASD may be attributed to differences in the study populations, exposure assessments, outcome assessments, or chance. Further research is needed to understand the underlying biological mechanisms that lead
Cohen, Patricia; Chen, Henian; Gordon, Kathy; Johnson, Jeffrey; Brook, Judith; Kasen, Stephanie
Low socioeconomic status (SES) background has been identified as a risk for several mental disorders. However evidence regarding SES and the developmental course of personality disorder (PD) has not been addressed. Nor is it clear whether an SES relationship to PD symptom course may be attributable to known associated risks. Further, specificity of such relationships to a particular PD diagnostic pattern independent of comorbidity with other PD or with depression has not been investigated. Data are from a general population studied longitudinally between ages 10 and 36 in four assessment waves. Effects of SES-associated risks on the level of symptoms of schizotypal and borderline disorders are estimated and compared to effects on depressive symptoms. Low family SES had robust modest independent effects on both PDs over the entire age span despite substantial cumulative effects of trauma history, stressful recent life events, IQ, poor parenting, and comorbid symptoms. SES effects on depressive symptoms were generally absent, but a small "protective" effect of low SES appeared when comorbidity with PD symptoms was taken into account. Cumulatively, these risks account for developmental failures of substantial magnitude and consequence, marking the importance of understanding the remaining mechanisms of SES effects and programmatic implications for minimizing associated risk.
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.
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,…
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…
Smits-Engelsman, Bouwien C M; Jelsma, Lemke Dorothee; Ferguson, Gillian D; Geuze, Reint H
OBJECTIVE: Although Developmental Coordination Disorder (DCD) is often characterized as a skill acquisition deficit disorder, few studies have addressed the process of motor learning. This study examined learning of a novel motor task; the Wii Fit ski slalom game. The main objectives were to
Full Text Available Objective. Inborn errors of metabolism (IEM are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD. The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. Materials and methods. Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition,target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD. Conclusion. Identification of new metabolomic profiles associated withIDD of unknown etiology and comorbidities will contribute to the development of novel diagnostic and therapeutic schemes for the prevention and treatment of IDD in Mexico.
Koolwijk, Irene; Stein, David S; Chan, Eugenia; Powell, Christine; Driscoll, Katherine; Barbaresi, William J
Current recommendations for evaluation and diagnosis of attention-deficit hyperactivity disorder (ADHD) are meant for primary care settings and may not adequately address the needs of children seen in subspecialty developmental-behavioral pediatric settings who may have higher rates of comorbid developmental, learning, and psychiatric disorders. The authors sought to characterize the diagnostic complexity of school-aged children diagnosed with ADHD after comprehensive multidisciplinary evaluation in a subspecialty developmental-behavioral pediatric clinic. The authors conducted a retrospective medical record review of 144 patients aged 7 to 11 years who were consecutively evaluated by an interdisciplinary team (developmental-behavioral pediatrician, psychologist, educator) in a school-age clinic within a developmental-behavioral pediatrics tertiary care center from January 1, 2009 to December 31, 2009. After comprehensive evaluation, rates of ADHD diagnosis increased from 32.6% (n = 47) preevaluation to 54.2% (n = 78) postevaluation (p pediatric subspecialty setting, a comprehensive evaluation including developmental, neuropsychological, and educational assessments yielded high rates of comorbid psychiatric, developmental, and learning disorders. This supports the need to provide comprehensive interdisciplinary assessment for such children to ensure the identification and treatment of not only the core symptoms of ADHD but also the comorbidities that may otherwise go unrecognized and therefore not optimally treated.
Vizard, Eileen; Hickey, Nicole; McCrory, Eamon
Little is known about the developmental trajectories of juveniles presenting with sexually abusive behaviour or emerging severe personality disorder traits. To investigate whether ;age at onset' of sexually abusive behaviour and whether emerging severe personality disorder traits are associated with specific developmental profiles. A retrospective file review of 280 juveniles presenting with sexually abusive behaviour was conducted and follow-up Offenders Index data were analysed. Juveniles with early onset (abusive behaviour had higher levels of psychosocial adversity and early childhood antisocial behaviour compared withthose with late onset. Emerging severe personality disorder traits were associated with higher levels of psychosocial adversity, antisocial behaviour, convictions and predatory sexually abusive behaviour. Preliminary evidence supports the existence of distinct developmental trajectories within this population and points to a key role for traits of emerging severe personality disorder.
Kuroda, Miho; Wakabayashi, Akio; Uchiyama, Tokio; Yoshida, Yuko; Koyama, Tomonori; Kamio, Yoko
Deficits in understanding the mental state of others ("mind-reading") have been well documented in individuals with pervasive developmental disorders (PDD). However, it is unclear whether this deficit in social cognition differs between the subgroups of PDD defined by the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text…
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…
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…
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 observation time was 34.7 years, and mean age at follow-up was 35.8 years. Of the 469 individuals with DLD, 23 (4.9%) were known in DPCR with a PD diagnosis, compared with 51/2,345 (2.2%) in the control group (P =0.0007). Variables at assessment in childhood (gender, IQ, presence of a receptive language 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 research is needed to understand the links between a diagnosis of DLD in childhood and a PD in adult years.
Nana N. Takasu
Full Text Available Considerable attention has been paid to individuals showing social maladjustment as well as withdrawal from social situations and activity, a state referred to as “Hikikomori” in Japanese. Recently, social maladjustment and Hikikomori states have also been noted to be highly prevalent among individuals with pervasive developmental disorders (PDDs, which involve abnormalities in social interactions and communication. The individuals with PDDs report a tendency to sleep and wake at irregular or inappropriate times and to suffer from sleep disorders by nature, and they tend to sleep at extreme late night or during the day while experiencing social maladjustment and Hikikomori states. Therefore, it is probable that their oral hygiene might deteriorate due to a circadian rhythm disorder, such as an abnormal salivary secretion rhythm or refusals and noncooperation of dental care due to mood/emotional and social problems, underlying and caused by their sleep and wake patterns. In this review, we describe the importance of regular lifestyle, especially regular sleep–wake rhythm with appropriately timed bright light exposure during daytime, for management of oral health in PDDs via improving their circadian rhythm disorders.
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
Posey, D J; Guenin, K D; Kohn, A E; Swiezy, N B; McDougle, C J
The aim of this study was to conduct a naturalistic, open-label examination of the efficacy and tolerability of mirtazapine (a medication with both serotonergic and noradrenergic properties) in the treatment of associated symptoms of autism and other pervasive developmental disorders (PDDs). Twenty-six subjects (5 females, 21 males; ages 3.8 to 23.5 years; mean age 10.1 +/- 4.8 years) with PDDs (20 with autistic disorder, 1 with Asperger's disorder, 1 with Rett's disorder, and 4 with PDDs not otherwise specified were treated with open-label mirtazapine (dose range, 7.5-45 mg daily; mean 30.3 +/- 12.6 mg daily). Twenty had comorbid mental retardation, and 17 were taking concomitant psychotropic medications. At endpoint, subjects' primary caregivers were interviewed using the Clinical Global Impressions (CGI) scale, the Aberrant Behavior Checklist, and a side-effect checklist. Twenty-five of 26 subjects completed at least 4 weeks of treatment (mean 150 +/- 103 days). Nine of 26 subjects (34.6%) were judged responders ("much improved" or "very much improved" on the CGI) based on improvement in a variety of symptoms including aggression, self-injury, irritability, hyperactivity, anxiety, depression, and insomnia. Mirtazapine did not improve core symptoms of social or communication impairment. Adverse effects were minimal and included increased appetite, irritability, and transient sedation. Mirtazapine was well tolerated but showed only modest effectiveness for treating the associated symptoms of autistic disorder and other PDDs.
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.
Ro J. Robotham
Full Text Available 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.
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.
Ellis Weismer, Susan
Historically, specific language impairment (SLI) and language deficits associated with autism spectrum disorders (ASD) have been viewed as distinct developmental language disorders. However, over the last decade or so, a considerable amount of research has explored general similarities or specific areas of overlap between children with SLI and ASD based on language and cognitive profiles, neuroimaging findings, and genetic research. The clinical classification schemes that are used to identify the children necessarily influence the extent to which SLI and ASD are viewed as overlapping or distinct conditions. Yet, the criteria used to diagnose these two populations vary across countries and even across investigators within a given country. This necessarily impacts the findings from comparative investigations of these groups. With these challenges in mind, clinical implications of evidence for similarities and distinctions between children with SLI and ASD will be discussed with respect to differential diagnosis and treatment. © 2013 S. Karger AG, Basel.
Sappok, Tanja; Brooks, Whitney; Heinrich, Manuel; McCarthy, Jane; Underwood, Lisa
Diagnosing Autism Spectrum Disorders (ASD) is important throughout the lifespan. The objective was to investigate the transcultural diagnostic validity of the Social Communication Questionnaire (SCQ) in a clinical sample of 451 adults with Intellectual Developmental Disorder (IDD) with and without ASD in Germany, the U.S.A. and Great Britain. Variables associated with higher SCQ sum-scores were higher levels of IDD, male gender, a diagnosis of ASD and the study site (Germany > U.S.A > G.B.). An ROC analysis revealed a cut-score of 13, which resulted in a sensitivity of 0.87 and a specificity of 0.58. It is recommended to adjust the cut-score according to level of IDD and gender. Further research is needed to align diagnostic assignment of ASD across different sites and countries.
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
Tilahun, Dejene; Hanlon, Charlotte; Fekadu, Abebaw; Tekola, Bethlehem; Baheretibeb, Yonas; Hoekstra, Rosa A.
Background Understanding the perspectives of caregivers of children with developmental disorders living in low-income countries is important to inform intervention programmes. The purpose of this study was to examine the stigma experiences, explanatory models, unmet needs, preferred interventions and coping mechanisms of caregivers of children with developmental disorders in Ethiopia. Methods Participants comprised caregivers (n?=?102) of children with developmental disorders attending two ch...
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
Maria B Ospina
Full Text Available BACKGROUND: Much controversy exists regarding the clinical efficacy of behavioural and developmental interventions for improving the core symptoms of autism spectrum disorders (ASD. We conducted a systematic review to summarize the evidence on the effectiveness of behavioural and developmental interventions for ASD. METHODS AND FINDINGS: Comprehensive searches were conducted in 22 electronic databases through May 2007. Further information was obtained through hand searching journals, searching reference lists, databases of theses and dissertations, and contacting experts in the field. Experimental and observational analytic studies were included if they were written in English and reported the efficacy of any behavioural or developmental intervention for individuals with ASD. Two independent reviewers made the final study selection, extracted data, and reached consensus on study quality. Results were summarized descriptively and, where possible, meta-analyses of the study results were conducted. One-hundred-and-one studies at predominantly high risk of bias that reported inconsistent results across various interventions were included in the review. Meta-analyses of three controlled clinical trials showed that Lovaas treatment was superior to special education on measures of adaptive behaviour, communication and interaction, comprehensive language, daily living skills, expressive language, overall intellectual functioning and socialization. High-intensity Lovaas was superior to low-intensity Lovaas on measures of intellectual functioning in two retrospective cohort studies. Pooling the results of two randomized controlled trials favoured developmental approaches based on initiative interaction compared to contingency interaction in the amount of time spent in stereotyped behaviours and distal social behaviour, but the effect sizes were not clinically significant. No statistically significant differences were found for: Lovaas versus special
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.
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.
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…
Hauser, Mark J; Olson, Erick; Drogin, Eric Y
Persons with intellectual disability come into frequent and underreported contact with the legal system. Advances in forensic psychiatry help better identify persons with intellectual disability in forensic contexts, inform evaluation and treatment, and elucidate unique characteristics of this population. With the release of Diagnostic and Statistical Manual of Mental Disorders (DSM-5), forensic psychiatrists must adjust to changes in the diagnostic process. This review examines the past year's contributions to the literature, including predictors among offenders with intellectual disability, concurrent diagnoses, efficacy of competence restoration, means of studying individuals with intellectual disability, and impact of DSM-5. Impoverished personal relationships are found to be an important predictor of offense among persons with intellectual disability. A Personality Disorder Characteristics Checklist allows screening for personality disorders (indicative of increased risk of violence) among intellectual disability offenders. Referrals to specialists for treatment more often occur for violent and sexual offenses than for other offenses. Competence restoration is historically low among those with intellectual disability, specially compared with those referred for substance abuse and personality disorders. However, the Slater Method results in higher rates of restoration than traditional training methods. DSM-5 alters the definition of intellectual disability, moving from an IQ-oriented diagnosis system to a multifaceted approach, introducing more flexibility and nuance.
Hartley, Sigan L.; Sikora, Darryn M.
Little is known about the female presentation of autism spectrum disorder (ASD) during early childhood. We investigated sex differences in developmental profiles using the Mullen Scales of Early Learning, autistic symptoms on the ADOS-G, and coexisting behavior problems on the CBCL in 157 boys and 42 girls with ASD aged 1.5–3.9 years. Overall, boys and girls evidenced a markedly similar pattern of developmental profiles, autism symptoms, and coexisting behavior problems, although subtle diffe...
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.
Full Text Available Hsiang-Lin Chan,1,2,* Wen-Sheng Liu,3–6,* Yi-Hsuan Hsieh,1,2 Chiao-Fan Lin,1,2 Tiing-Soon Ling,2,7 Yu-Shu Huang1,2 1Department of Child Psychiatry, Chang Gung Memorial Hospital, 2College of Medicine, Chang Gung University, Taoyuan, 3Division of Nephrology, Department of Medicine, Taipei City Hospital, Zhong-Xing Branch, Taipei, Taiwan; 4School of Medicine, National Yang-Ming University, Taipei, Taiwan; 5Institute of Environmental and Occupational Health Sciences, School of Medicine, National Yang-Ming University, Taipei, Taiwan; 6College of Science and Engineering, Fu Jen Catholic University, New Taipei City, Taiwan; 7Department of Family Medicine, Chang Gung Memorial Hospital, Taoyuan, Taiwan, Republic of China *These authors contributed equally to this work Objectives: This study aimed to estimate the percentages of attention deficit and hyperactivity disorder (ADHD and autism spectrum disorder (ASD in Taiwanese aboriginal preschool children. Child development level was compared between the two groups. Methods: Teachers completed screening questionnaires for ADHD, ASD, and development level for 36- to 72-month-old children in kindergartens in Taiwan. The questionnaire results were compared between the aboriginal and nonaboriginal children. One child psychiatrist then interviewed the aboriginal preschool children to determine if they had ADHD and/or ASD. Results: We collected 93 questionnaires from the aboriginal group and 60 from the nonaboriginal group. In the aboriginal group, 5.37% of the children were identified to have ADHD, while 1.08% were identified to have ASD. Significantly fewer aboriginal children had developmental delays for situation comprehension and personal–social development (P=0.012 and 0.002, respectively than nonaboriginal children. Conclusion: Aboriginal children in Taiwan had typical percentages of ADHD and ASD compared to those published in the literature. Aboriginal children showed relative strengths in situation
Full Text Available The psychologist has a very complex task in the team detection of children with developmental disorders from easy variations to complex retardation because of the fact that the development of the children is caused by the dynamics, maturation and finally by the environmental influence.The aim of this presentation is to show the results of the team detection of children with developmental disorders among the population of risky born children recorded and observed in the Developmental Advisory Center in Skopje, compared to the chosen control group of “healthy born children” without pre, pri and post natal problems.The research is of longitudinal (1990-1995 and team character and done according to determined calendar, criteria and methodology. The psychological evaluation in most cases is dynamic, structural and predictive.As psychometric instruments, the developmental scores DTC-M and DTC-P developmental test Cuturic at the age of 3 months to 5 years and after the fifth year W 15 C-intellectual test evaluation were used.The results of the early detection of the developmental disorders were shown on table, manifested as:· retardation in the body control and fine manipulative appliance of hands and fingers;· sensor disturbances of various grades (hesitation about the retardation in the answers of the visual stimulus and inadequate or absent answer of auditive stimuli;· retardation in the development of verbal abilities;· retardation in the development of cognitive and sensitive abilities;· weak control of the emotions and social deprivation.All the developmental spheres of various grades are present among children with developmental difficulties.The team detection (clinical records and diagnosis supplemented with psychological findings was carried out very early which gave possibility to start an adequate and prompt treatment.
Bellgrove, Mark A; Eramudugolla, Ranmalee; Newman, Daniel P; Vance, Alasdair; Mattingley, Jason B
Converging evidence suggests that right-hemisphere dominant spatial attention systems can be modulated by non-spatial processes such as attentional capacity. The severity of neglect in right-hemisphere stroke patients for example, is correlated with impairments in non-lateralized attention. Evidence also suggests the coexistence of lateralized inattention and reduced capacity in developmental disorders of attention, such as attention deficit hyperactivity disorder (ADHD), which is marked by cognitive impairments suggestive of right hemisphere dysfunction. These lines of evidence argue against a coincident damage hypothesis and suggest instead a direct modulation of spatial attention by non-spatial processes. Here we sought experimental evidence for this relationship in both acquired and developmental disorders of attention. Six adult stroke patients with focal right brain injury and 19 children with ADHD were studied in comparison to control groups of both healthy older adults and typically developing children. The participants were required to detect transient, unilateral visual targets while simultaneously monitoring a stream of alphanumeric characters at fixation. Load at fixation was manipulated by asking participants either to ignore the central stream and focus on the peripheral detection task (no report condition), or to monitor the central stream for a probe item that was defined by either a unique feature (low load condition) or a conjunction of features (high load condition). As expected, in all participants greater load at fixation slowed responses to peripheral targets. Crucially, in right brain injured patients but not older healthy adults left target detection was slowed significantly more than central and right target detection. A qualitatively similar pattern was seen in children with ADHD, but not in typically developing children. The imposition of load at fixation slowed responses to left compared with right targets, and this response time
Lee, Alice S-Y; Gibbon, Fiona E
Children with developmental speech sound disorders have difficulties in producing the speech sounds of their native language. These speech difficulties could be due to structural, sensory or neurophysiological causes (e.g. hearing impairment), but more often the cause of the problem is unknown. One treatment approach used by speech-language therapists/pathologists is non-speech oral motor treatment (NSOMT). NSOMTs are non-speech activities that aim to stimulate or improve speech production and treat specific speech errors. For example, using exercises such as smiling, pursing, blowing into horns, blowing bubbles, and lip massage to target lip mobility for the production of speech sounds involving the lips, such as /p/, /b/, and /m/. The efficacy of this treatment approach is controversial, and evidence regarding the efficacy of NSOMTs needs to be examined. To assess the efficacy of non-speech oral motor treatment (NSOMT) in treating children with developmental speech sound disorders who have speech errors. In April 2014 we searched the Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE (R) and Ovid MEDLINE In-Process & Other Non-Indexed Citations, EMBASE, Education Resources Information Center (ERIC), PsycINFO and 11 other databases. We also searched five trial and research registers, checked the reference lists of relevant titles identified by the search and contacted researchers to identify other possible published and unpublished studies. Randomised and quasi-randomised controlled trials that compared (1) NSOMT versus placebo or control; and (2) NSOMT as adjunctive treatment or speech intervention versus speech intervention alone, for children aged three to 16 years with developmental speech sound disorders, as judged by a speech and language therapist. Individuals with an intellectual disability (e.g. Down syndrome) or a physical disability were not excluded. The Trials Search Co-ordinator of the Cochrane Developmental, Psychosocial and
Fabiola Stolf Brzozowski; Sandra Caponi
... disorder with hyperactivity (ADHD). The reductionism to which we refer, also called biological or neurogenetic determinism, the question of neuroscience, is the epistemological, ie one that tries to explain a complex problem for only...
This study explores the hypothesis that there may be particular difficulties for secondary school students with specific developmental language disorder (SDLD) in understanding contextual, pragmatic meaning. Sixty-four SDLD students aged 11+ to 14+ years are compared with chronological-age-matched and language-age-matched non-impaired students. New procedures are used to examine comprehension of two types of ambiguity where the context determines speaker intention: inconsistent messages of emotion and multiple meanings in context. These types of ambiguity are evident in a range of communicative intent, e.g. sarcasm, idiomatic expression, deceit and humour. Preliminary study into adolescent language suggests that at this age there is a growing expectation for students to understand these kinds of communication, both in the classroom and socially. The study finds that the SDLD students were less able than both comparison groups to use context to understand implied meanings. Non-impaired children were also more able to rule out literal interpretations when they did not know the non-literal meaning. These findings were statistically significant. The implications for research and practice are discussed, including those of diagnostic assessment, in the light of the literature survey revealing that many currently available do not assess pragmatic meaning comprehension. There is a challenge to the view that disorders in the semantic and pragmatic domains necessarily co-occur, as suggested by the diagnostic category semantic-pragmatic disorder.
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.
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.
Tsujii, Noa; Okada, Akira; Kaku, Reigetsu; Kuriki, Noriko; Hanada, Kazushi; Shirakawa, Osamu
To clarify differences in objective activity levels between children with attention-deficit/hyperactivity disorder (ADHD) and those with pervasive developmental disorders (PDD) and hyperactivity. Eighteen boys with combined type ADHD, 10 boys with PDD with hyperactivity, and 18 control boys wore actigraphs for 1 week while attending elementary school. In addition to the average activity level, the standard deviation in the activity levels were compared for two continuous situations: (i) in-seat classes, in which the participants were expected to sit in their own seats and learn quietly; and (ii) free recess periods following the in-seat classes. All the groups were affected by the situational shift, the average activity level of each the groups was higher and the standard deviation was smaller than those during the in-seat classes. The boys with ADHD exhibited a still smaller standard deviation than the controls and the boys with PDD and hyperactivity during the free recess period; no difference between the controls and the boys with PDD was seen. The boys with PDD exhibited a significantly lower average activity level than the other groups. No differences among the groups in the average activity levels and standard deviation were seen during the in-seat classes. The observed objective activity levels in each group reflect the degree to which the boys are able to tolerate changes in situations. Objective measurement of activity levels may be useful to differentiate hyperactivity in children with ADHD from that in children without ADHD.
Hinshaw, Stephen P
Controversy abounds regarding the symptom dimensions of attention problems, impulsivity, and hyperactivity, developmentally extreme and impairing levels of which compose the diagnostic category of attention deficit hyperactivity disorder (ADHD). I highlight causal factors, underlying mechanisms, developmental manifestations, and female manifestations of ADHD, integrating the psychobiological underpinnings of this syndrome with contextual factors related to its clinical presentation, impairments, and soaring increases in diagnosed prevalence. Indeed, despite strong heritability, ADHD is expressed via transactional patterns of influence linked to family-, school-, peer-, neighborhood-, and policy-related factors. Moreover, intervention strategies must take into account both pharmacologic and behavioral modalities if the goal is to enhance competencies, rather than symptom reduction per se. A comprehensive understanding of ADHD mandates multiple levels of analysis-spanning genes, neurotransmission, brain pathways, individual skill levels, family socialization, peer relationships, and educational and cultural forces-which must be integrated and synthesized to surpass reductionist accounts, reduce stigma, and maximize the impact of prevention- and intervention-related efforts. Expected final online publication date for the Annual Review of Clinical Psychology Volume 14 is May 7, 2018. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
Resilience research has demonstrated convincingly that the strengths of resilient children growing up adaptively in the midst of adversity can be traced back to salient attributes of the parent--infant system. Drawing on various strands of developmental infancy research, the present essay focuses on strengths in infants' intrinsic regulatory capacities, in the parents' intuitive communicative competence, and in parent--infant communication as a biologically based, reciprocal reward system. Adaptive and protective roles of the system are discussed in relation to normal developmental perturbations and individual variation on both sides of the system and, based on results from the Munich Interdisciplinary Research and Intervention Program for Fussy Babies, in relation to early excessive crying and other disorders of behavioral and emotional regulation. The final section outlines how this knowledge can be applied in systemic, strength-based approaches to parent--infant counseling and psychotherapy, with emphasis on the therapeutic potential of videomicroanalytic feedback. Copyright © 2011 Michigan Association for Infant Mental Health.
Consoli, Angèle; Gheorghiev, Charles; Jutard, Claire; Bodeau, Nicolas; Kloeckner, Anja; Pitron, Victor; Cohen, David; Bonnot, Olivier
Packing therapy is an adjunct symptomatic treatment used for autism and/or catatonia. Here, we report the case of a 15-year-old boy with pervasive developmental disorder who developed catatonia. At admission, catatonic symptoms were severe and the patient required a feeding tube. Lorazepam up to 15 mg/day moderately improved the catatonic symptoms. On day 36 we added fluoxetine and on day 62 we added packing therapy (twice per week, 10 sessions). After three packing sessions, the patient showed a significant clinical improvement (Ppsychoanalysis and neuroscience. Indeed, better body representation following packing sessions, as shown in patient's drawing, paralleled clinical improvement, and supports the concept of embodied self. This concept may serve as a link between psychoanalysis and attachment theory, developmental psychology with the early description of "sense of self", and cognitive neurosciences that more and more support the concept of embodied cognition. Further clinical studies are necessary to clarify the efficacy and underlying mechanism of packing treatment and to understand how patient's experience may illustrate the concept of embodied self. Copyright © 2010 Elsevier Ltd. All rights reserved.
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: ; ; ; ;
Kover, Sara T; McDuffie, Andrea S; Hagerman, Randi J; Abbeduto, Leonard
In light of evidence that receptive language may be a relative weakness for individuals with autism spectrum disorder (ASD), this study characterized receptive vocabulary profiles in boys with ASD using cross-sectional developmental trajectories relative to age, nonverbal cognition, and expressive vocabulary. Participants were 49 boys with ASD (4-11 years) and 80 typically developing boys (2-11 years). Receptive vocabulary, assessed with the Peabody Picture Vocabulary Test, was a weakness for boys with ASD relative to age and nonverbal cognition. Relative to expressive vocabulary, assessed with the Expressive Vocabulary Test, receptive vocabulary increased at a lower rate for boys with ASD. Vocabulary trajectories in ASD are distinguished from typical development; however, nonverbal cognition largely accounts for the patterns observed.
Kane, Kyra; Bell, Ali
This series of case reports documents the response of 3 children with developmental coordination disorder to a group intervention program. The 3 children, 9-11 years old, who participated in the 6-week group exercise program, illustrate the heterogeneity of this population. Two group sessions per week and a home program included a core stability program, fitness activities, and task-specific intervention based on child-chosen goals. The effect of the program on motor skills, self-perceived adequacy for physical activity and balance, strength, and core stability activities was examined. Each child improved in 1 or more areas of motor skill, self-efficacy for physical activity, and core stability outcome measures. Possible reasons for the range of outcomes are discussed. Physical activity promotion in this population has the potential to improve the quality of life and reduce health risks associated with sedentary lifestyles.
Katartzi, Ermioni S; Vlachopoulos, Symeon P
The purpose of the current article is to highlight the potential of self-determination theory (SDT) to inform the teaching practices of physical education (PE) teachers. Such practices may enhance motivational levels for participation in physical activity (PA) for children with developmental coordination disorder (DCD). First, we review the research in PE demonstrating links between teachers' interpersonal style, teaching methods, and outcomes relating to both students' motivation and motor skill improvement. Second, we outline the SDT mechanism through which the practices employed by PE teachers to support students' psychological needs for autonomy, competence, and relatedness may effect positive changes in the motivation and the physical activity behaviour of children with DCD. Third, we present an overview of findings on the effectiveness of need-supporting practices used by PE teachers. Fourth, we provide directions for future motivational research using the SDT principles in school physical education for children with DCD. Copyright © 2011 Elsevier Ltd. All rights reserved.
McDuffie, Andrea S.; Hagerman, Randi J.; Abbeduto, Leonard
In light of evidence that receptive language may be a relative weakness for individuals with autism spectrum disorder (ASD), this study characterized receptive vocabulary profiles in boys with ASD using cross-sectional developmental trajectories relative to age, nonverbal cognition, and expressive vocabulary. Participants were 49 boys with ASD (4–11 years) and 80 typically developing boys (2–11 years). Receptive vocabulary, assessed with the Peabody Picture Vocabulary Test, was a weakness for boys with ASD relative to age and nonverbal cognition. Relative to expressive vocabulary, assessed with the Expressive Vocabulary Test, receptive vocabulary increased at a lower rate for boys with ASD. Vocabulary trajectories in ASD are distinguished from typical development; however, nonverbal cognition largely accounts for the patterns observed. PMID:23588510
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.
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.
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.
Lefevre, Arthur; Sirigu, Angela
Oxytocin is widely used by obstetricians to induce or facilitate labor. The long lasting consequences of oxytocin administration remain however unknown. Here, we discuss recent evidence suggesting a link between oxytocin labor induction and developmental social impairments such as autism spectrum disorders (ASD). Because these associations are methodologically questionable, we provide a review of animal studies investigating the long term effects of neonatal injection of oxytocin to shed light on the biological mechanisms that mediate the contribution of early oxytocin supplementation on the development of social impairments. In contrast to this potential negative impact on development, oxytocin has been shown to ameliorate social skills of ASD patients. However, results of chronic oxytocin administration from animal experiments are contradictory. We also review recent studies looking at chronic oxytocin effects in animal and in humans. Obstetric and psychiatric uses of exogenous oxytocin both impact on oxytocinergic neurotransmission but the effects may be sharply dissimilar. Copyright © 2016. Published by Elsevier Ltd.
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.
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.
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
Bolaños, Cristina; Gomez, M Marlene; Ramos, Gregorio; Rios Del Rio, Janina
The main purpose of this research was to determine if the indicators of risk included in the Indicators of Developmental Risk Signals (INDIPCD-R) could differentiate between children at risk of sensory processing disorders (SPDs) from those with normal development and if the SPD indicators correlated with a delay or altered development. A retrospective, descriptive, correlational design was used with a sample of 51 children, 36 referred because of clinical sensory processing indicators and 15 with non-clinical indicators. Participants were assessed with a developmental scale Revised Profile of Developmental Behaviors (PCD-R), the Sensory Profile, play and clinical observations. The INDIPCD-R showed a high correlation with developmental areas of PCD-R and a sensitivity and specificity of 100%, when compared with the Sensory Profile. T-test results for independent samples showed significant differences at p ≤ 0.01 level between the children with SPD indicators and those with no clinical signs in the PCD-R. The Mann-Whitney U-test was conducted for unpaired samples, to verify if there were significant differences between children with apparent SPD indicators and children with no apparent difficulties. The Spearman's rho was used to identify the correlations between the INDIPCD-R, with different areas of development. This study supports the use of the INDIPCD-R as a screening instrument that could be used by occupational therapists to discriminate children with and without indicators of SPD. The limitation of this study was that it did not cover all the ages of the INDIPCD-R. Additional studies are required to determine the utility of this instrument for outcome studies and whether it is valid and reliable to identify children at risk of different pathologies. The INDIPCD-R is a low-cost instrument that allows the occupational therapist to make a quick review of the different components that could be involved in SPD and therefore guide the more in
Abdul-Rahman, Omar A; Hudgins, Louanne
A genetics evaluation of children with pervasive developmental disorders (PDDs) identifies a diagnosis in 6% to 15% of cases. However, previous studies have not measured the incidence of genetic disorders among children with autistic-like features who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria for PDD. We identified 101 patients at our institution referred for PDD, autism, Asperger syndrome, or autistic features. Seventy-eight were males and 23 were females, giving a male-to-female ratio of 3.4:1. No diagnosis was identified on examination alone, although Rett syndrome was suspected in six females. Seventeen patients did not undergo any type of testing because of noncompliance. Of the remaining 84 patients analyzed, seven (8.3%) were found to have abnormalities on testing. Three chromosomal anomalies were found: one with 5p duplication, one with low-level mosaicism for trisomy 21, and one with an unbalanced 10;22 translocation. Three females were diagnosed with Rett syndrome after MECP2 analysis identified a disease-causing mutation. The remaining patient was found to have an elevated urine orotic acid, with a normal ammonia level, of unknown significance. On the basis of our series, the yield of a genetics evaluation in patients with features of PDD who do not necessarily meet the Diagnostic and Statistical Manual for Mental Disorders, Fourth Edition criteria is 8.3%. Approximately half of these were the result of a chromosomal abnormality. Three cases of Rett syndrome were identified for which autistic behaviors are a well-described feature. These findings suggest that a high-resolution karyotype provides the greatest diagnostic yield for patients with autistic-like features. MECP2 analysis should be considered for females who present with autistic behaviors.
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.
Guzmán C, Maria L; Guzmán C, Sergio F; Guzmán, Maria E; Marín, Fransisco; Remolcois, Elisabeth; Gallardo, Andrés; Rozas, Néstor; Urra, Edmundo; Rojas, Fabián
To study possible findings of factors in the antenatal, perinatal or postnatal period, in the mother or the child that may have an influence on the appearance of a developmental disorder. A Data Base of Clinical Histories from every patient with a developmental disorder (F80-F90 ICD10) was created. The patients attended the Child Psychiatric Unit at Hospital Regional of Valdivia, Chile, from August 2006 to December 2008. Total: 493 patientes (48.7% of the total of patients consulting); 32 healthy patients. odds ratio (95% confidence). The main risk factors for developing a developmental disorder (P<.005, 25% frequency in the consulting population) are: prematurity, male sex, mother with low education, early hospitalizations, and medical illnesses (all with a significant odds ratio). Also, having a mother with psychiatric illness doubles the risk of having a developmental disorder. It requires an interdisciplinary collaborative work between neonatologists, obstetricians, child psychiatrists and the primary care to detect early children at risk. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.
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…
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…
Smits-Engelsman, B.C.M.; Westenberg, Y.; Duysens, J.
Several studies have suggested that children with developmental coordination disorder (DCD) have difficulties in the fine-tuning of manual force. However, parameterization of the generated force per se is hard to test under normal circumstances as movement planning and execution are also involved.
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 =
Scahill, Lawrence; McCracken, James T.; Bearss, Karen; Robinson, Fay; Hollander, Eric; King, Bryan; Bregman, Joel; Sikich, Lin; Dukes, Kimberly; Sullivan, Lisa; Anagnostou, Evdokia; Donnelly, Craig; Kim, Young-Shin; Ritz, Louise; Hirtz, Deborah; Wagner, Ann
The Studies to Advance Autism Research and Treatment Network conducted a randomized trial with citalopram in children with Pervasive developmental disorders (PDDs). We present the rationale, design and sample characteristics of the citalopram trial. Subjects (128 boys, 21 girls) had a mean age of 9.3 (plus or minus 3.12) years; 132 (88.6%) were…
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…
Tsang, William W. N.; Guo, X.; Fong, Shirley S. M.; Mak, Kwok-Kei; Pang, Marco Y. C.
Purpose: This study aimed (1) to compare the skeletal maturity and activity participation pattern between children with and without developmental coordination disorder (DCD); and (2) to determine whether activity participation pattern was associated with the skeletal development among children with DCD. Materials and methods: Thirty-three children…
Hellings, Jessica A.; Cardona, Alicia M.; Schroeder, Stephen R.
The objective of this study was to examine long-term adverse events of risperidone in 19 children, adolescents, and adults with Pervasive Developmental Disorders and intellectual disability, continuing risperidone for a mean of 186.5 weeks, following a 46-week risperidone study. Nineteen individuals continued long-term follow-up after our…
Scahill, Lawrence; McDougle, Christopher J.; Aman, Michael G.; Johnson, Cynthia; Handen, Benjamin; Bearss, Karen; Dziura, James; Butter, Eric; Swiezy, Naomi G.; Arnold, L. Eugene; Stigler, Kimberly A.; Sukhodolsky, Denis D.; Lecavalier, Luc; Pozdol, Stacie L.; Nikolov, Roumen; Hollway, Jill A.; Korzekwa, Patricia; Gavaletz, Allison; Kohn, Arlene E.; Koenig, Kathleen; Grinnon, Stacie; Mulick, James A.; Yu, Sunkyung; Vitiello, Benedetto
Objective: Children with Pervasive Developmental Disorders (PDDs) have social interaction deficits, delayed communication, and repetitive behaviors as well as impairments in adaptive functioning. Many children actually show a decline in adaptive skills compared with age mates over time. Method: This 24-week, three-site, controlled clinical trial…
Hartley, Sigan L.; Sikora, Darryn M.
Little is known about the female presentation of autism spectrum disorder (ASD) during early childhood. We investigated sex differences in developmental profiles using the Mullen Scales of Early Learning, autistic symptoms on the ADOS-G, and coexisting behavior problems on the CBCL in 157 boys and 42 girls with ASD aged 1.5-3.9 years. Overall,…
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…
Schurink, J.; Hartman, E.; Scherder, Erik; Houwen, S; Visscher, C.
This study examines the motor skills and executive functioning (EF) of 28 children diagnosed with pervasive developmental disorder-not otherwise specified (PDD-NOS; mean age: 10 years 6 months, range: 7-12 years; 19 boys, 9 girls) in comparison with age- and gender-matched typically developing
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…
Bishop, Dorothy V. M.
A recent project entitled CATALISE used the Delphi method to reach a consensus on terminology for unexplained language problems in children. "Developmental language disorder" (DLD) was the term agreed by a panel of 57 experts. Here I reflect on points of difficulty that arose when attempting to reach a consensus, using qualitative…
Bishop, Dorothy V. M.; Whitehouse, Andrew J. O.; Watt, Helen J.; Line, Elizabeth A.
Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A…
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.
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.
Wilson, P.H.; Smits-Engelsman, B.C.M.; Caeyenberghs, K.; Steenbergen, B.; Sugden, D.A.; Clark, J.E.; Mumford, N.; Blank, R.
Aim: To better understand the neural and performance factors that may underlie developmental coordination disorder (DCD), and implications for a multi-component account. Method: A systematic review of the experimental literature published between June 2011 and September 2016 was conducted using a
Smits-Engelsman, B.C.M.; Wilson, P.H.; Westenberg, Y.; Duysens, J.E.J.
Thirty-two children with Developmental Coordination Disorder (DCD) and learning disabilities (LD) and their age-matched controls attending normal primary schools were investigated using kinematic movement analysis of fine-motor performance. Three hypotheses about the nature of the motor deficits
Smits-Engelsman, B.C.M.; Wilson, P.H.; Westenberg, Y.; Duysens, J.E.J.
Thirty-two children with Developmental Coordination Disorder (DCD) and learning disabilities (LD) and their age-matched controls attending normal primary schools were investigated using kinematic movement analysis of fine-motor performance. Three hypotheses about the nature of the motor deficits
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…
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…
Richdale, Amanda; Wiggs, Luci
This paper reviews behavioral treatments for sleep problems in children with a developmental disorder (DD). Sleep problems are common in children with a DD and children's sleep problems may be associated with adverse consequences including behaviour problems, compromised daytime functioning and family stress. However, the sleep intervention…
Volman, M.J.M.; Geuze, R.H.
A dynamic pattern approach is used to examine the relative phase stability of rhythmic coordination in 24 children with a Developmental Coordination Disorder (DCD) and 24 matched controls in two functionally different tasks - a within-subject task (bimanual coordination) and a subject-environment
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…
Full Text Available Study aim: The purpose of this article is to present the cultural adaptation of the DCDQ’07 (Developmental Coordination Disorder Questionnaire as one of the popular and most frequently-used diagnostic instruments for diagnosing DCD in school-age children.
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…
Wuang, Yee-Pay; Su, Jui-Hsing; Su, Chwen-Yng
Aim: To examine the internal consistency, test-retest reliability, and responsiveness of the Movement Assessment Battery for Children--Second Edition (MABC-2) Test for children with developmental coordination disorder (DCD). Method: One hundred and forty-four Taiwanese children with DCD aged 6 to 12 years (87 males, 57 females) were tested on…
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.
Azzoni, A; Raja, M
Chromosomal aberrations, with or without congenital physical abnormalities, have been frequently found associated with neuropsychiatric disorders, including mental retardation, psychosis, autism, and criminal behaviour. The meaning of the association frequently remains unclear. However, consistent findings of association between specific chromosomal abnormalities and clinical phenotype may provide evidence of a causal relationship and shed light on the pathogenesis of obscure disorders. Here, we present the case of a 28 year-old, Caucasian male affected by pervasive developmental disorder, associated with chromosomal translocation 46, XY, t (X; 4) (p11; q13), and abnormal facial features. A few days after birth, the patient was taken away from his parents and adopted for unknown reasons. No information is available about his biological relatives. Mild delay in the development of spoken language was reported. Since early childhood, the patient's behaviour was characterized by troublesome relationship with his parents and his fellows, and persistent violation of norms and rules at home and at school. Consequently, social and school functioning was poor. When he was eight, verbal and motor stereotypy appeared for the first time. As an adolescent, he was more and more aggressive. He exhibited countless episodes of rage and verbal and physical aggressiveness. After he had completed secondary school, his way of life was chaotic. He got into the habit of staying away from home, sleeping in the day and vagabonding at night. He began to abuse alcohol. Grandiosity and persecutory delusions became evident. He claimed to hate the Vatican, the Pope, and the Polish people and to be the Devil, the Antichrist. He feared that his food was poisoned by his mother and refused to eat at home any more. He loved to remain in a cage with two wild dogs, accumulating and keeping bottles full of his urine. He often engaged in violent fights in the street with tramps and foreigners. Finally
Luteijn, EF; Serra, M; Jackson, S; Steenhuis, MP; Althaus, M; Volkmar, F; Minderaa, R
This study examines possible differences and similarities between social behaviour problems in children with problems classified as pervasive developmental disorder not otherwise specified (PDD-NOS) and a group of children with problems classified as ADHD, as measured by parent questionnaires. The
Wright, Lisa; Pring, Tim; Ebbels, Susan
Children with developmental language disorder (DLD) frequently have difficulties with word learning and understanding vocabulary. For these children, this can significantly impact on social interactions, daily activities and academic progress. Although there is literature providing a rationale for targeting word learning in such children, there is little evidence for the effectiveness of specific interventions in this area for children with identified DLD. To establish whether direct one-to-one intervention for children with DLD over 9 years of age leads to improved abilities to identify, comprehend, define, and use nouns and verbs targeted in intervention as compared with non-targeted control items and whether or not the participants' rating of their own knowledge of the words changes with intervention. Twenty-five children and young people with language disorder (aged 9;4-16;1) participated in the study: 18 with DLD and seven with a language disorder associated with autism spectrum disorder (ASD). Two assessments of different levels were created: a higher ability (less frequent words) and a lower ability (more frequent words). Participants' speech and language therapists (SLTs) decided which level would be the most appropriate for each participant. Four tasks were carried out as part of the assessment and the scores were used to identify which words each participant worked on. Participants received one 30-min session per week one-to-one with their own SLT for 7 weeks, plus a 5-min revision session in between each main session. During each of the first five sessions, participants learned two new words; the two final sessions were spent revising the 10 words which had been targeted. Post-intervention assessment showed an increase in scores for both treated and control words. However, progress on treated words was significantly greater than on control words (d = 1.07), indicating effectiveness of intervention. The difference between progress on targeted and control
Smith Peter G
Full Text Available Abstract Background There has been concern that the incidence of autism and other pervasive developmental disorders (PDDs is increasing. Previous studies have been smaller, restricted to autism (excluding other pervasive developmental disorders such as Asperger's syndrome, included boys only, or have not been based on a national sample. We investigated time trends in the rates of diagnosis of pervasive developmental disorders. Methods We analysed the rates of first diagnosis of pervasive developmental disorders among people registered with a practice contributing to the United Kingdom General Practice Research Database during the period 1988 to 2001. We included 1410 cases from over 14 million person-years of observation. The main outcome measures were rates of diagnosis of pervasive developmental disorders by year of diagnosis, year of birth, gender and geographical region. Results The rate increased progressively from 0.40/10,000 person-years (95% CI 0.30 to 0.54 in 1991 to 2.98/10,000 (95% CI 2.56 to 3.47 in 2001. A similar change occurred in the age standardised incidence ratios, from 35 (95% CI: 26–47 in 1991 to 365 (95% CI: 314–425 in 2001. The temporal increase was not limited to children born during specific years nor to children diagnosed in a specific time period. The rate of diagnosis of PDDs other than autism rose from zero for the period 1988–1992 to 1.06/10,000 person-years in 2001. The rate of diagnosis of autism also increased but to a lesser extent. There was marked geographical variation in rates, with standardised incidence ratios varying from 66 for Wales to 141 for the South East of England. Conclusions Better ascertainment of diagnosis is likely to have contributed to the observed temporal increase in rates of diagnosis of PDD, but we cannot exclude a real increase.
Both schizophrenia and bipolar disorder (BP) are associated with neurocognitive deficits. However, it has been suggested that schizophrenia, but not BP, is characterised by premorbid cognitive impairments and neurodevelopmental abnormalities. In this paper, studies investigating neurocognitive deficits in premorbid, high-risk and first-episode BP were reviewed and these findings were compared with outcome of studies in schizophrenia. Available evidence suggests that cognitive deficits are evident in first-episode BP and such deficits can be evident even years before the onset of the illness in some patients. Trajectory of cognitive deficits from childhood to adulthood can be very similar in schizophrenia and many patients with BP. Developmental lag in acquisition of cognitive skills is a risk factor for both disorders. However, unlike schizophrenia, not only impaired cognition but also supranormal premorbid cognitive/scholastic performance predict BP. Neurodevelopmental cognitive impairment is evident in some but not all patients with BP. A model suggesting that only BP patients who share common genetic risk factors with schizophrenia have premorbid neurodevelopmental cognitive deficits is proposed. In this model, combination of absence of neurodevelopmental abnormalities and BP-related temperamental characteristics explains the relationship between supranormal cognition and risk for BP. Copyright © 2014 Elsevier B.V. and ECNP. All rights reserved.
Farhat, Faiçal; Masmoudi, Kaouthar; Cairney, John; Hsairi, Ines; Triki, Chahinez; Moalla, Wassim
The decreased participation in physical activity by children with probable developmental coordination disorder (pDCD) has raised concerns about their aerobic fitness and lung function levels. The purpose of the present study was to examine assessment of cardiorespiratory and neuromotor fitness, using laboratory-based tests during an incremental treadmill protocol in healthy children with and without pDCD. Twenty sex children ages 6-9 years took part in this study. Motor coordination was assessed using the Movement Assessment Battery for Children (MABC). All participants performed a cardiopulmonary exercise test (CPET) on a cycle ergometer. Pulmonary function was assessed by spirometric measurements (forced vital capacity: FVC, forced expiratory volume in 1s: FEV1) and walking distance (6MWD) was assessed using the 6-min walking test. The children with pDCD had lower VO2max than children without pDCD (p children without pDCD than in children with the disorder (p children with pDCD had poorer performance on the 6MWD than children without pDCD (p children. Moreover, a significant correlation between VO2max and FEV1 (r = 0.668, p children with pDCD. Overall, the reduced aerobic capacity of DCD was associated with decreased of lung function, as well as an alteration of peripheral muscle responses. Copyright © 2014 Elsevier Ltd. All rights reserved.
Hodge, Danelle; Carollo, Tanner M; Lewin, Michael; Hoffman, Charles D; Sweeney, Dwight P
The present study examined age-related changes in the sleep of children with autism spectrum disorders (ASD) compared to age-related changes in the sleep of typically developing (TD) children. Participants were 108 mothers of children with ASD and 108 mothers of TD children. Participants completed a questionnaire on children's overall sleep quality that also tapped specific sleep-domains (i.e., bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night wakings, parasomnias, disordered breathing, daytime sleepiness). Results confirm significantly poorer sleep quantity and quality in children with ASD, particularly children age 6-9 years. Unlike TD children, the sleep problems of children with ASD were unlikely to diminish with age. Our findings suggest that it is important to exam specific domains of sleep as well as overall sleep patterns. Finding of significant age-related interactions suggests that the practice of combining children from wide age-ranges into a single category obfuscates potentially important developmental differences. Copyright © 2014 Elsevier Ltd. All rights reserved.
Zwicker, Jill G; Rehal, Harpreet; Sodhi, Sharan; Karkling, Morgan; Paul, Alissa; Hilliard, Mike; Jarus, Tal
Developmental coordination disorder (DCD) significantly affects a child's motor abilities and negatively impacts their self-efficacy and participation in physical activity. Using a task-specific approach and cognitive strategies in a group setting, we designed a summer camp intervention for children with DCD. Our purpose was to examine the effectiveness of the summer camp in meeting child-chosen functional motor goals and increasing self-efficacy and participation. This mixed methods study examined performance and satisfaction of child-chosen goals, self-efficacy, and participation of 11 children before and after the camp. Survey and interview data from three children and nine parents were collected to supplement quantitative findings. Statistically significant improvement in performance and satisfaction of child-chosen goals was noted. While no measureable changes in self-efficacy and participation were observed, parents and children reported positive benefits to camp participation, including the confidence to try new activities, being with other children with DCD, and learning more about the disorder. The intensive, group-based summer camp may offer a valuable alternative to improve the functional skills of children with DCD, while providing other notable benefits.
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.
This paper discusses the characteristics of psychotherapy for pervasive developmental disorders (PDD) in the context of the curative effects of the movement of images. The 'autistic spectrum' is widened here and includes not only PDD, but also ADHD. The main common characteristic in these two sets of disorders seems to be the lack of a subject, which manifests itself as the absence of awareness of otherness and difficulties with boundaries and language. In these cases a normal psychotherapy is ineffective as it presupposes an established subject. However a psychotherapeutic approach with these patients can contribute to the emergence of a subject. In severe cases the process of union and separation which is enacted either in the therapeutic relationship or in symbolic play leads to the birth of a subject, and of language. In milder cases, such as ADHD, the moments of separation and confrontation with the therapist suffice. I will discuss a case of my own with Asperger's syndrome in which union and separation in the play therapy occurred simultaneously. This indicates that union and separation are not a consecutive process, but are simultaneous and lead to dialectical movement. However, in neurotic cases with an established subjectivity the symbolic meaning of image plays a central role. This corresponds to Jung's understanding of image in alchemy.
Utami, Kagistia H.; Hillmer, Axel M.; Aksoy, Irene; Chew, Elaine G. Y.; Teo, Audrey S. M.; Zhang, Zhenshui; Lee, Charlie W. H.; Chen, Pauline J.; Seng, Chan Chee; Ariyaratne, Pramila N.; Rouam, Sigrid L.; Soo, Lim Seong; Yousoof, Saira; Prokudin, Ivan; Peters, Gregory; Collins, Felicity; Wilson, Meredith; Kakakios, Alyson; Haddad, Georges; Menuet, Arnaud; Perche, Olivier; Tay, Stacey Kiat Hong; Sung, Ken W. K.; Ruan, Xiaoan; Ruan, Yijun; Liu, Edison T.; Briault, Sylvain; Jamieson, Robyn V.; Davila, Sonia; Cacheux, Valere
Delineating candidate genes at the chromosomal breakpoint regions in the apparently balanced chromosome rearrangements (ABCR) has been shown to be more effective with the emergence of next-generation sequencing (NGS) technologies. We employed a large-insert (7–11 kb) paired-end tag sequencing technology (DNA-PET) to systematically analyze genome of four patients harbouring cytogenetically defined ABCR with neurodevelopmental symptoms, including developmental delay (DD) and speech disorders. We characterized structural variants (SVs) specific to each individual, including those matching the chromosomal breakpoints. Refinement of these regions by Sanger sequencing resulted in the identification of five disrupted genes in three individuals: guanine nucleotide binding protein, q polypeptide (GNAQ), RNA-binding protein, fox-1 homolog (RBFOX3), unc-5 homolog D (C.elegans) (UNC5D), transmembrane protein 47 (TMEM47), and X-linked inhibitor of apoptosis (XIAP). Among them, XIAP is the causative gene for the immunodeficiency phenotype seen in the patient. The remaining genes displayed specific expression in the fetal brain and have known biologically relevant functions in brain development, suggesting putative candidate genes for neurodevelopmental phenotypes. This study demonstrates the application of NGS technologies in mapping individual gene disruptions in ABCR as a resource for deciphering candidate genes in human neurodevelopmental disorders (NDDs). PMID:24603971
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.
Beatriz de Arruda Pereira Galvão
Full Text Available In general, the difficulties presented by children diagnosed with Developmental Coordination Disorder (DCD are first noticed by parents in the daily routine. Although the discussion about the functional impact of DCD is expanding in some countries, it is still poorly explored in Brazil. The purpose of this study was to review the literature that describes the perception of parents concerning the impact of DCD on the daily life of these children and their families. An electronic search for the evidence available in the literature was conducted in major databases using, as keywords, the terms commonly adopted by researchers and practitioners working with children with DCD. The inclusion criteria were articles that used qualitative methodology, studies published from January 1995 to February 2012, and data collected through interviews with parents and/or caregivers, which described children with specific signs of DCD. Of the 594 articles found, only eight used qualitative methodology - all in English. The data presented in these articles show the concern of parents regarding the socialization process of their children with DCD and the lack of preparation of the educational system to deal with the motor difficulties that characterize this disorder. In conclusion, it is essential, especially for rehabilitation professionals who deal with children with DCD, to value how parents perceive the motor coordination difficulties of their children in order to develop actions and services that are adequate to the reality of Brazilian families.
Paulo Sérgio Boggio
Full Text Available Being socially connected directly impacts our basic needs and survival. People with deficits in social cognition might exhibit abnormal behaviors and face many challenges in our highly social-dependent world. These challenges and limitations are associated with a substantial economical and subjective impact. As many conditions where social cognition is affected are highly prevalent, more treatments have to be developed. Based on recent research, we review studies where noninvasive neuromodulatory techniques have been used to promote Social Plasticity in developmental disorders. We focused on three populations where non-invasive brain stimulation seems to be a promising approach in inducing social plasticity: Schizophrenia, Autism Spectrum Disorder (ASD and Williams Syndrome (WS. There are still very few studies directly evaluating the effects of transcranial direct current stimulation (tDCS and transcranial magnetic stimulation (TMS in the social cognition of these populations. However, when considering the promising preliminary evidences presented in this review and the limited amount of clinical interventions available for treating social cognition deficits in these populations today, it is clear that the social neuroscientist arsenal may profit from non-invasive brain stimulation techniques for rehabilitation and promotion of social plasticity.
Boggio, Paulo S; Asthana, Manish K; Costa, Thiago L; Valasek, Cláudia A; Osório, Ana A C
Being socially connected directly impacts our basic needs and survival. People with deficits in social cognition might exhibit abnormal behaviors and face many challenges in our highly social-dependent world. These challenges and limitations are associated with a substantial economical and subjective impact. As many conditions where social cognition is affected are highly prevalent, more treatments have to be developed. Based on recent research, we review studies where non-invasive neuromodulatory techniques have been used to promote Social Plasticity in developmental disorders. We focused on three populations where non-invasive brain stimulation seems to be a promising approach in inducing social plasticity: Schizophrenia, Autism Spectrum Disorder (ASD) and Williams Syndrome (WS). There are still very few studies directly evaluating the effects of transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) in the social cognition of these populations. However, when considering the promising preliminary evidences presented in this review and the limited amount of clinical interventions available for treating social cognition deficits in these populations today, it is clear that the social neuroscientist arsenal may profit from non-invasive brain stimulation techniques for rehabilitation and promotion of social plasticity.
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.
Kay, Catherine; Green, Jonathan; Sharma, Kishan
We investigate the prevalence, specificity and possible aetiology of Disinhibited Attachment Disorder (DAD) in adopted children without a history of institutional care. Sixty children adopted from UK out-of-home care (AD; mean age 102 months, 45 % male); 26 clinic-referred children with externalizing disorder (ED; mean age 104 months, 77 % male) but no history of maltreatment or disrupted care; and 55 matched low-risk comparison controls (LR; mean age 108 months, 49 % male) were assessed for DAD using a triangulation of parent, teacher, and research observations. Maltreatment history and child psychiatric symptoms were obtained from parent report and child language development was assessed. DAD was identified in 49 % of AD, 4 % of ED and 6 % of LR children. Seventy-two percent of AD children had suffered maltreatment. DAD was not associated with degree of risk exposure, demographics, or language. A significant association with ADHD did not explain variance in DAD prevalence across groups. DAD was significantly more common in children first admitted to out-of-home care between 7 and 24 months, independent of maltreatment severity, age at adoption and number of care placements. Implications for developmental theory, adoption policy and clinical application are discussed.
Thais Silva Beltrame
Full Text Available Introduction: Due the consequences that the Developmental Coordination Disorder - DCD can bring to the development of children in motor, affective and social aspects, a research with representative samples in Brazil becomes needed. Objective: This study aimed to investigate the prevalence of DCD in students aged 7 to 10 years old. The sample consisted of 787 children from the city of Florianópolis/SC. Method: The motor performance was evaluated by the Movement Assessment Battery for Children Second Edition - MABC-2 which ranks the motor performance in three: difficulty, risk and standard motor performance. For analysis we used descriptive statistics (average, minimum, maximum, standard deviation, and frequency and inferential statistics (Chi-square test, Mann-Whitney, Krusskal-Wallis with post-hoc Dunn. The statistical significance was set on p<0.05. Results: The prevalence of motor difficulty and risk for motor difficulty was 7.1% and 11.3% respectively and with no motor difficulty was 81.6%. By associating sex with motor classifications it was observed that boys had more motor difficulty (X2 = 6.38; p = 0.04. Girls showed more difficulty with the throwing and receiving skills; and the boys with manual dexterity skills. Children aged 7 and 8 years had higher prevalence of DCD. Conclusion: The prevalence of the disorder, as well as the differences between the sexes was considered similar to evidences presented in international research.
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.
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.
Bishop, Dorothy V M; Whitehouse, Andrew J O; Watt, Helen J; Line, Elizabeth A
Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A total of 38 adults (aged 15-31y; 31 males, seven females) who had participated in studies of developmental language disorder during childhood were given the Autism Diagnostic Observation Schedule--Generic. Their parents completed the Autism Diagnostic Interview--Revised, which relies largely on symptoms present at age 4 to 5 years to diagnose autism. Eight individuals met criteria for autism on both instruments, and a further four met criteria for milder forms of autistic spectrum disorder. Most individuals with autism had been identified with pragmatic impairments in childhood. Some children who would nowadays be diagnosed unambiguously with autistic disorder had been diagnosed with developmental language disorder in the past. This finding has implications for our understanding of the epidemiology of autism.
Full Text Available Abstract Background Development of the eye depends partly on the periocular mesenchyme derived from the neural crest (NC, but the fate of NC cells in mammalian eye development and the signals coordinating the formation of ocular structures are poorly understood. Results Here we reveal distinct NC contributions to both anterior and posterior mesenchymal eye structures and show that TGFβ signaling in these cells is crucial for normal eye development. In the anterior eye, TGFβ2 released from the lens is required for the expression of transcription factors Pitx2 and Foxc1 in the NC-derived cornea and in the chamber-angle structures of the eye that control intraocular pressure. TGFβ enhances Foxc1 and induces Pitx2 expression in cell cultures. As in patients carrying mutations in PITX2 and FOXC1, TGFβ signal inactivation in NC cells leads to ocular defects characteristic of the human disorder Axenfeld-Rieger's anomaly. In the posterior eye, NC cell-specific inactivation of TGFβ signaling results in a condition reminiscent of the human disorder persistent hyperplastic primary vitreous. As a secondary effect, retinal patterning is also disturbed in mutant mice. Conclusion In the developing eye the lens acts as a TGFβ signaling center that controls the development of eye structures derived from the NC. Defective TGFβ signal transduction interferes with NC-cell differentiation and survival anterior to the lens and with normal tissue morphogenesis and patterning posterior to the lens. The similarity to developmental eye disorders in humans suggests that defective TGFβ signal modulation in ocular NC derivatives contributes to the pathophysiology of these diseases.
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.
Background Genomic microarrays have been used as the first-tier cytogenetic diagnostic test for patients with developmental delay/intellectual disability, autism spectrum disorders and/or multiple congenital anomalies. The use of SNP arrays has revealed regions of homozygosity in the genome which can lead to identification of uniparental disomy and parental consanguinity in addition to copy number variations. Consanguinity is associated with an increased risk of birth defects and autosomal recessive disorders. However, the frequency of parental consanguinity in children with developmental disabilities is unknown, and consanguineous couples may not be identified during doctor’s visit or genetic counseling without microarray. Results We studied 607 proband pediatric patients referred for developmental disorders using a 4 × 180 K array containing both CGH and SNP probes. Using 720, 360, 180, and 90 Mb as the expected sizes of homozygosity for an estimated coefficient of inbreeding (F) 1/4, 1/8, 1/16, 1/32, parental consanguinity was detected in 21cases (3.46%). Conclusion Parental consanguinity is not uncommon in children with developmental problems in our study population, and can be identified by use of a combined CGH and SNP chromosome microarray. Identification of parental consanguinity in such cases can be important for further diagnostic testing. PMID:24053112
Sussman, E; Steinschneider, M; Lee, W; Lawson, K
Natural sound environments are dynamic, with overlapping acoustic input originating from simultaneously active sources. A key function of the auditory system is to integrate sensory inputs that belong together and segregate those that come from different sources. We hypothesized that this skill is impaired in individuals with phonological processing difficulties. There is considerable disagreement about whether phonological impairments observed in children with developmental language disorders can be attributed to specific linguistic deficits or to more general acoustic processing deficits. However, most tests of general auditory abilities have been conducted with a single set of sounds. We assessed the ability of school-aged children (7-15 years) to parse complex auditory non-speech input, and determined whether the presence of phonological processing impairments was associated with stream perception performance. A key finding was that children with language impairments did not show the same developmental trajectory for stream perception as typically developing children. In addition, children with language impairments required larger frequency separations between sounds to hear distinct streams compared to age-matched peers. Furthermore, phonological processing ability was a significant predictor of stream perception measures, but only in the older age groups. No such association was found in the youngest children. These results indicate that children with language impairments have difficulty parsing speech streams, or identifying individual sound events when there are competing sound sources. We conclude that language group differences may in part reflect fundamental maturational disparities in the analysis of complex auditory scenes. Copyright © 2014 Elsevier B.V. All rights reserved.
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.
Leivada, Evelina; Kambanaros, Maria; Grohmann, Kleanthes K
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.
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.
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.
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
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
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.
Adams, Imke L J; Smits-Engelsman, Bouwien; Lust, Jessica M; Wilson, Peter H; Steenbergen, Bert
Children with Developmental Coordination Disorder (DCD) experience movement difficulties that may be linked to processes involved in motor imagery (MI). This paper discusses recent advances in theory that underpin the use of MI training for children with DCD. This knowledge is translated in a new MI training protocol which is compared with the cognitive orientation to daily occupational performance (CO-OP). Children meeting DSM-5 criteria for DCD were assigned to MI (n = 4) or CO-OP (n = 4) interventions and completed nine treatment sessions, including homework exercises. Results were positive, with two children in the MI group and three in the CO-OP group improving their m-ABC-2 score by ≥ 2 standard scores, interpreted as a clinically meaningful change. Moreover, all children and parents noticed improvements in motor skills after training. This is the first study to demonstrate the feasibility of a theoretically principled treatment protocol for MI training in children with DCD, and extends earlier work. Trial registration: The complete trial is registered at the Dutch trial register, www.trialregister.nl (NTR5471). http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=5471.
Adams, Imke L. J.; Smits-Engelsman, Bouwien; Lust, Jessica M.; Wilson, Peter H.; Steenbergen, Bert
Children with Developmental Coordination Disorder (DCD) experience movement difficulties that may be linked to processes involved in motor imagery (MI). This paper discusses recent advances in theory that underpin the use of MI training for children with DCD. This knowledge is translated in a new MI training protocol which is compared with the cognitive orientation to daily occupational performance (CO-OP). Children meeting DSM-5 criteria for DCD were assigned to MI (n = 4) or CO-OP (n = 4) interventions and completed nine treatment sessions, including homework exercises. Results were positive, with two children in the MI group and three in the CO-OP group improving their m-ABC-2 score by ≥ 2 standard scores, interpreted as a clinically meaningful change. Moreover, all children and parents noticed improvements in motor skills after training. This is the first study to demonstrate the feasibility of a theoretically principled treatment protocol for MI training in children with DCD, and extends earlier work. Trial registration: The complete trial is registered at the Dutch trial register, www.trialregister.nl (NTR5471). http://www.trialregister.nl/trialreg/admin/rctview.asp?TC=5471 PMID:28798707
Freitas, Cidália; Vasconcelos, Maria Olga; Botelho, Manuel
This study aimed to examine the probable developmental coordination disorder (DCD) and to identify differences in motor performance according to handedness, sex and age in typically developing Portuguese children not engaged in out-of-school sports. The Movement Assessment Battery for Children (M-ABC) was applied to a convenience sample of 154 right-handed and 119 left-handed children (n=273), aged 4-12 (mean age=7.96 years, SD=2.38). The results suggest that the occurrence rate of probable DCD was 25.3% for right-handers and 36.1% for left-handers. This study showed a significant effect of handedness in age band 2, left-handers exhibited a higher prevalence of probable DCD than right-handers. Sex produced a significant effect, with girls performing better in manual dexterity in age band 1 and boys performing better in ball skills in age bands 2 and 3. The lower motor performances were observed in older children. These findings reinforce for Portuguese children and particularly for left-handers, the need for further investigation involving longitudinal studies and children of different handedness in the motor coordination domain. Moreover, we highlight the importance of developing physical education programmes that emphasize motor coordination parameters, especially in left-handed children.
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.
Alloway, Tracy Packiam
The aim of the present study was investigate the relationship between working memory and reading and mathematical skills in 55 children diagnosed with developmental coordination disorder (DCD). The findings indicate a pervasive memory deficit in all memory measures. In particular, deficits observed in visuospatial short-term and working memory tasks were significantly worse than in the verbal short-term memory ones. On the basis of these deficits, the sample was divided into high and low visuospatial memory ability groups. The low visuospatial memory group performed significantly worse on the attainment measures compared to the high visuospatial memory group, even when the contribution of IQ was taken into account. When the sample was divided into high and low verbal working memory ability groups, verbal working memory skills made a unique contribution to attainment only when verbal IQ was taken into account, but not when performance IQ was statistically controlled. It is possible that the processing demands of the working memory tasks together with the active motor component reflected in the visuospatial memory tasks and performance IQ subtest both play a crucial role in learning in children with DCD.
Tomchek, Scott D; Little, Lauren M; Dunn, Winnie
Sensory processing differences in preschool-age children with autism spectrum disorder (ASD) affect their engagement in everyday activities, thereby influencing opportunities to practice and develop skills such as social communication and adaptive behavior. The purpose of this study was to investigate the extent to which specific sensory processing patterns relate to aspects of development (i.e., adaptive behavior, expressive and receptive language, fine and gross motor skills, social behavior) in a sample of preschool-age children with ASD (N=400). A retrospective chart review was used to gather clinical data. Results suggest that sensory processing patterns differentially affect children's developmental skills and adaptive behavior. Certain sensory processing patterns predicted children's development of language, motor, and adaptive skills. These findings have clear implications for occupational therapy practice with young children with ASD. Practitioners should consider how sensory processing in ASD both supports and limits children's ability to engage in social communication and learning opportunities. Copyright © 2015 by the American Occupational Therapy Association, Inc.
Lee, Joanna C
The aim of the study was to investigate the efficiency of the use of response-contingent feedback in adolescents with and without developmental language disorder (DLD) by using the balloon analogue risk task (BART). The BIS/BAS scales were also used to evaluate a participant's responses to reward- or punishment-related events in everyday situations. The results showed that adolescents with DLD performed on the BART at a suboptimal level due to inefficient use of response-contingent feedback. Findings of the BIS/BAS scales also generate a possible hypothesis of reduced motivational salience for larger monetary outcomes in DLD. Given that dopamine plays an important role in modulating BART responding through the corticostriatal pathways, these behavioral findings implicate an association between dopamine and individual differences in language, including DLD. Future studies are needed to directly test whether people with DLD have reduced level of dopamine in striatal neural synapses, leading to dopamine-dependent learning difficulty. Copyright © 2017 Elsevier Inc. All rights reserved.
C M Magnée, Maurice J; de Gelder, Beatrice; van Engeland, Herman; Chantal Kemner
An important premise for successful social-affective communication is rapid perception of visual and auditory emotional cues, as well as their multisensory integration (MSI). We investigated to what extent a deficit in recognition of emotions in individuals with Pervasive Developmental Disorder (PDD) may have its roots in abnormal MSI of emotional cues provided by the sight of a facial expression and an emotional tone of voice. In twelve high-functioning, adult PDD individuals and thirteen age- and IQ-matched controls, (1) the processing of fearful faces was compared with that of happy faces; (2) MSI was assessed by characterizing the interaction effects of crossmodal presentation, using EEG. Increased P1 and N170 amplitudes were seen in response to fearful faces compared with happy faces in both groups. However, PDD individuals differed from healthy controls in MSI of fearful information from visual and auditory cues. Both groups show a similar pattern as concerns the early components of visual emotion processing, but there are anomalies in processing of fearful face-voice combinations in the PDD group. Because of the importance of rapid MSI for social competence, MSI anomalies in PDD may be linked to the observed deficits in their emotional behavior.
Joshi, Nishitha; Hamdan, Ahmad M.; Fakhouri, Walid D.
The likelihood of birth defects in orofacial tissues is high due to the structural and developmental complexity of the face and the susceptibility to intrinsic and extrinsic perturbations. Skeletal malocclusion is caused by the distortion of the proper mandibular and/or maxillary growth during fetal development. Patients with skeletal malocclusion may suffer from dental deformities, bruxism, teeth crowding, trismus, mastication difficulties, breathing obstruction and digestion disturbance if the problem is left untreated. In this review, we focused on skeletal malocclusion that affects 27.9% of the US population with different severity levels. We summarized the prevalence of class I, II and III of malocclusion in different ethnic groups and discussed the most frequent medical disorders associated with skeletal malocclusion. Dental anomalies that lead to malocclusion such as tooth agenesis, crowding, missing teeth and abnormal tooth size are not addressed in this review. We propose a modified version of malocclusion classification for research purposes to exhibit a clear distinction between skeletal vs. dental malocclusion in comparison to Angle’s classification. In addition, we performed a cross-sectional analysis on orthodontic (malocclusion) data through the BigMouth Dental Data Repository to calculate potential association between malocclusion with other medical conditions. In conclusion, this review emphasizes the need to identify genetic and environmental factors that cause or contribute risk to skeletal malocclusion and the possible association with other medical conditions to improve assessment, prognosis and therapeutic approaches. PMID:25247012
Claudia C Gonzalez
Full Text Available The ability to use advance information to prepare and execute a movement requires cognitive control of behaviour (e.g., anticipation and inhibition. Our aim was to explore the integrity of saccadic eye movement control in developmental coordination disorder (DCD and typically developing (TD children (8-12 years and assess how these children plan and inhibit saccadic responses, the principal mechanisms within visual attention control. Eye movements and touch responses were measured (separately and concurrently in Cued and Non-Cued conditions. We found that children with DCD had similar saccade kinematics to the TD group during saccade initiation. Advance information decreased hand movement duration in both groups during Cued trials, but decrements in accuracy were significantly worse in the DCD group. In addition, children with DCD exhibited greater inhibitory errors and inaccurate fixation during the Cued trials. Thus, children with DCD were reasonably proficient in executing saccades during reflexive (Non-Cued conditions, but showed deficits in more complex control processes involving prediction and inhibition. These findings have implications for our understanding of motor control in children with DCD.
Bieber, Eleonora; Smits-Engelsman, Bouwien C M; Sgandurra, Giuseppina; Cioni, Giovanni; Feys, Hilde; Guzzetta, Andrea; Klingels, Katrijn
This study systematically reviewed the clinical and psychometric properties of manual function outcome measures for children with developmental coordination disorder (DCD) aged 3-18 years. Three electronic databases were searched to identify manual function tools at the ICF-CY body function, activity and participation level used in children with DCD. Study selection and data extraction was conducted by two blind assessors according to the CanChild Outcome Measures Rating Form. Nineteen clinical tests (seven fine hand use tools and 12 handwriting measures), three naturalistic observations and six questionnaires were identified. The fine-motor subdomain of the Movement Assessment Battery for Children, the Bruininks-Oseretsky Test of Motor Proficiency-2 and the Functional Strength Measurement, with adequate reliability and validity properties, might be useful for manual function capacity assessment. The Systematic Detection of Writing Problems (SOS) and the Detailed Assessment of Speed of Handwriting (DASH) could be adopted for handwriting assessment, respectively from 6 and 9 years old. Naturalistic observations and questionnaires, whose psychometric properties have been investigated into limited extent, offer an assessment of the daily performances. This review shows that a combination of different tools is needed for a comprehensive assessment of manual function in children with DCD including the three levels of the ICF-CY. Further investigation of psychometric properties of those tools in children with DCD is warranted. Tests validated in other populations should be explored for their applicability for assessing manual function in children with DCD. Copyright © 2016 Elsevier Ltd. All rights reserved.
Philips, Nicole E; Chirico, Daniele; Cairney, John; Hay, John; Faught, Brent E; O'Leary, Deborah D
Children with cardiovascular disease risk factors demonstrate adverse arterial alterations that are predictive of cardiovascular morbidity and mortality in adults. Children with developmental coordination disorder (DCD) are at cardiovascular risk as they are more likely to be obese and inactive. The purpose of this study was to assess arterial structure and function in children with and without probable DCD (p-DCD). A cross-sectional study of 33 children with p-DCD (22 male) and 53 without (30 male). The Movement Assessment Battery for Children was used to classify those with p-DCD. Adiposity was assessed using the BOD POD. Compliance, distensibility, and intima-media thickness were measured at the common carotid artery (CCA). ECG R-wave-to-toe pulse wave velocity (PWV) was also measured. Compared to controls, males with p-DCD had lower CCA distensibility (p=0.034) and higher PWV (p=0.001). No differences were evident in females. Body fat percent was a significant predictor of CCA distensibility and removed the effect of p-DCD on PWV in males. The present study demonstrates augmented arterial stiffness in males with p-DCD, likely attributed to body fat. These findings underscore the importance of targeted interventions in children with p-DCD, specifically males, in order to prevent future cardiovascular risk. Copyright © 2016 Elsevier Ltd. All rights reserved.
Brosseau-Lapré, Françoise; Rvachew, Susan
This study examined the psycholinguistic profiles of Quebec French-speaking children with developmental phonological disorders (DPD). The purpose was to determine whether the endophenotypes that have been identified in English-speaking children with DPD are similarly associated with speech impairment in French-speaking children. Seventy-two children with DPD and ten children with normally developing speech, aged four to six years, received a comprehensive assessment battery that included measures at the phenotype level (i.e. measures of overt speech production skills) and endophenotype level (i.e. measures of potential underlying core deficits such as phonological processing or oral motor impairments). The majority of the children with DPD presented with a psycholinguistic profile indicative of difficulties with phonological processing. Phonological processing skills also explained unique variance in speech production accuracy, indicating that French-speaking children with DPD, who produce different surface speech errors than English-speaking children with DPD, are nonetheless very similar with regards to their underlying psycholinguistic profile.
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.
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
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
Geier, David; Kern, Janet; Geier, Mark
Contradictory studies suggest that some neonatal factors may be associated with a pervasive developmental disorder (PDD) diagnosis, but limited data is available from longitudinal, prospective medical record assessments. The present hypothesis-testing longitudinal, case-control study evaluated birth characteristics among cases diagnosed with a PDD in comparison to controls by examining prospectively collected automated medical records within the Vaccine Safety Datalink (VSD) database. Cases were Health Maintenance Organization (HMO)-enrolled from birth until diagnosed with International Classification of Disease, 9th revision (ICD-9) PDD (299.xx) and controls were HMO-enrolled from birth for at least 4.75 years without a PDD diagnosis. The birth characteristics examined included: gender, gestational age in weeks at birth, mean birth weight in grams, Appearance-Pulse-Grimace-Activity-Respiration (APGAR) scores at 1 minute and 5 minutes, and maternal age in years at birth. Cases had a significantly increased male/female ratio relative to controls. By contrast, mean gestational age at birth, mean birth weight, mean maternal age at birth, and mean APGAR scores at 1 minute and 5 minutes were not statistically different among cases compared to controls. This study indicates that cases diagnosed with a PDD as compared to controls do not have significant differences in neonatal factors.
Liu, Li-Fei; Lu, Lan; Yue, Hong-Ni; Huan, Bei; Gu, Gui-Xiong; Jin, Hua; Wang, Yu-Mei
To investigate the influence of family environment on developmental coordination disorder (DCD) in preschool children. Stratified random cluster sampling was used to select 1 727 children (4-6 years old). The Movement Assessment Battery for Children was used to screen out the children with DCD. The Family Environment Scale on Motor Development for Preschool Urban Children and a self-designed questionnaire were used to assess family environment. A total of 117 children were confirmed with DCD. There were significant differences in mother's education level and family structure between the DCD and normal control groups. There were also significant differences in the scores of "Let children manage their daily items" and "Arrange all affairs" between the DCD and normal control groups. The multivariate logistic regression analysis indicated that when children's age and gender were controlled, mother's education level, family structure, "Let children manage their daily items", and "Arrange all affairs" were main factors influencing the development of DCD in children (Penvironment may affect the development of DCD in preschool children. Therefore, parents should not arrange all affairs for children and should provide more opportunities for children to manage their daily life, in order to promote the development of early motor coordination and prevent the development of DCD.
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.
Full Text Available Background: The present study aims to investigate the efficacy of executive functions training (working memory on the rate of attention in preschool children with developmental coordination disorder in Isfahan city. Materials and Methods: The participants of this study were three preschool children which were recognized to have developmental coordination disorder. To collect data used NEPSY neuropsychology test, Conner’s parent rating scale, Wechsler intelligence scale for children, basic motor ability tests and clinical interview. Results: The results of the data chart analysis based on descriptive statistics' and visual analysis indices revealed that the intervention has been effective on the three participants [respectively PND (Percentage of Non-Overlapping Data 80, 70 and 50% for test number one, two and three]. Conclusion: The results of the present study show that working memory executive function training, the rate of attention deficit can be reduced.
Blauw-Hospers, C H; de Graaf-Peters, V B; Dirks, T; Bos, A F; Hadders-Algra, M
Infants at high risk for developmental motor disorders are in general referred to early intervention (EI) services. It is a matter of debate to which extent EI may facilitate outcome in various developmental domains. We reviewed the effects of EI programmes aiming at promoting motor and cognitive development. With respect to motor development the data indicated that EI prior to term age probably is most effective when it aims at mimicking the intrauterine environment; after term age general developmental programmes probably are most effective. Some evidence was provided that EI prior to term age has a beneficial effect on cognitive development regardless the type of intervention which is applied. After term age only general developmental programmes seemed to have an effect on cognitive development. The review concludes with preliminary data on the effect a new intervention programme, COPCA, applied between 3 and 6 months corrected age on developmental outcome till 18 months. The results indicated that COPCA was more beneficial for the development of sitting behaviour and cognition than traditional paediatric physiotherapy.
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 [plus or minus] 0.8; 22 girls, age 6.6 [plus or minus] 0.8). The prevalence of DCD was assessed using DSM-IV-TR criteria…
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…
Black, Jessica M; Xia, Zhichao; Hoeft, Fumiko
Decoding-based reading disorder (RD; aka developmental dyslexia) is one of the most common neurodevelopmental disorders, affecting approximately 5-10% of school-aged children across languages. Even though neuroimaging studies suggest an impairment of the left reading network in RD, the onset of this deficit and its developmental course, which may include constancy and change, is largely unknown. There is now growing evidence that the recruitment of brain networks underlying perceptual, cognitive and linguistic processes relevant to reading acquisition varies with age. These age-dependent changes may in turn impact the neurocognitive characteristics of RD observed at specific developmental stages. Here we synthesize findings from functional and structural magnetic resonance imaging (MRI) studies to increase our understanding of the developmental time course of the neural bases underlying (a)typical reading. We first provide an overview of the brain bases of typical and atypical (impaired) reading. Next we describe how the understanding of RD can be deepened through scientific attention to age effects, for example, by integrating findings from cross-sectional studies of RD at various ages. Finally, we accent findings from extant longitudinal studies that directly examine developmental reading trajectories beginning in the preliterate stage at both group and individual levels. Although science is at the very early stage of understanding developmental aspects of neural deficits in RD, evidence to date characterizes RD by atypical brain maturation. We know that reading impairment may adversely impact multiple life domains such as academic achievement and social relationships, and unfortunately, that these negative outcomes can persist and compound into adulthood. We contend that exploring the developmental trajectories of RD will contribute to a greater understanding of how neural systems support reading acquisition. Further, we propose and cite evidence that the
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…
... Delayed language; Specific developmental language disorder; SLI; Communication disorder - language disorder ... injury. These conditions are sometimes misdiagnosed as developmental disorders. Language disorders may occur in children with other developmental ...
Lee, Hing Wah; Arunasalam, Parthiban; Laratta, William P; Seetharamu, Kankanhalli N; Azid, Ishak A
In this study, a hybridized neuro-genetic optimization methodology realized by embedding finite element analysis (FEA) trained artificial neural networks (ANN) into genetic algorithms (GA), is used to optimize temperature control in a ceramic based continuous flow polymerase chain reaction (CPCR) device. The CPCR device requires three thermally isolated reaction zones of 94 degrees C, 65 degrees C, and 72 degrees C for the denaturing, annealing, and extension processes, respectively, to complete a cycle of polymerase chain reaction. The most important aspect of temperature control in the CPCR is to maintain temperature distribution at each reaction zone with a precision of +/-1 degree C or better, irrespective of changing ambient conditions. Results obtained from the FEA simulation shows good comparison with published experimental work for the temperature control in each reaction zone of the microfluidic channels. The simulation data are then used to train the ANN to predict the temperature distribution of the microfluidic channel for various heater input power and fluid flow rate. Once trained, the ANN analysis is able to predict the temperature distribution in the microchannel in less than 20 min, whereas the FEA simulation takes approximately 7 h to do so. The final optimization of temperature control in the CPCR device is achieved by embedding the trained ANN results as a fitness function into GA. Finally, the GA optimized results are used to build a new FEA model for numerical simulation analysis. The simulation results for the neuro-genetic optimized CPCR model and the initial CPCR model are then compared. The neuro-genetic optimized model shows a significant improvement from the initial model, establishing the optimization method's superiority.
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.
Jelsma, Dorothee; Ferguson, Gillian D; Smits-Engelsman, Bouwien C M; Geuze, Reint H
To explore the differences in learning a dynamic balance task between children with and without probable Developmental Coordination Disorder (p-DCD) from different cultural backgrounds. Twenty-eight Dutch children with DCD (p-DCD-NL), a similar group of 17 South African children (p-DCD-SA) and 21 Dutch typically developing children (TD-NL) participated in the study. All children performed the Wii Fit protocol. The slope of the learning curve was used to estimate motor learning for each group. The protocol was repeated after six weeks. Level of motor skill was assessed with the Movement ABC-2. No significant difference in motor learning rate was found between p-DCD-NL and p-DCD-SA, but the learning rate of children with p-DCD was slower than the learning rate of TD children. Speed-accuracy trade off, as a way to improve performance by slowing down in the beginning was only seen in the TD children, indicating that TD children and p-DCD children used different strategies. Retention of the level of learned control of the game after six weeks was found in all three groups after six weeks. The learning slope was associated with the level of balance skill for all children. This study provides evidence that children with p-DCD have limitations in motor learning on a complex balance task. In addition, the data do not support the contention that learning in DCD differs depending on cultural background. Copyright © 2014 Elsevier Ltd. All rights reserved.
Van der Linde, Berdien W; van Netten, Jaap J; Otten, Bert; Postema, Klaas; Geuze, Reint H; Schoemaker, Marina M
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). The purposes of this study were: (1) to investigate differences between children with DCD and their peers with typical development for ADL performance, learning, and participation, and (2) to explore the predictive values of these aspects. This was a cross-sectional study. In both a clinical sample of children diagnosed with DCD (n=25 [21 male, 4 female], age range=5-8 years) and a group of peers with typical development (25 matched controls), the children's parents completed the DCDDaily-Q. Differences in scores between the groups were investigated using t tests for performance and participation and Pearson chi-square analysis for learning. Multiple regression analyses were performed to explore the predictive values of performance, learning, and participation. Compared with their peers, children with DCD showed poor performance of ADL and less frequent participation in some ADL. Children with DCD demonstrated heterogeneous patterns of performance (poor in 10%-80% of the items) and learning (delayed in 0%-100% of the items). In the DCD group, delays in learning of ADL were a predictor for poor performance of ADL, and poor performance of ADL was a predictor for less frequent participation in ADL compared with the control group. A limited number of children with DCD were addressed in this study. This study highlights the impact of DCD on children's daily lives and the need for tailored intervention. © 2015 American Physical Therapy Association.
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
Yu, Jane J; Sit, Cindy H P; Burnett, Angus F
To determine the characteristics and effectiveness of motor skill interventions in children with developmental coordination disorder (DCD) and to identify potential moderators of training effects using meta-analysis. A search was conducted in six databases (CINAHL Plus, Cochrane Library, Embase, Eric, PsycInfo, and PubMed) for papers published between 1995 and August 2017 using search items which were grouped in three components (motor skill interventions, DCD, and age group of interest). Studies were included if they have recruited children with DCD aged 3-17 years, reported performance of motor-related skills as outcomes, published in peer-reviewed journals, and written in English. Qualitative synthesis was conducted for all included studies. Quantitative synthesis (meta-analysis) was only conducted for studies using a (quasi) randomized controlled trial design. Methodology, participant characteristics, intervention components, outcomes, and the statistically significant training effects of each included study were extracted. Sixty-six studies met the inclusion criteria with 18 of the studies eligible for meta-analysis. Motor performance as well as cognitive, emotional, and other psychological factors were the most common outcomes. Other three outcome categories included perceptions and/or satisfaction regarding the children's improvement from significant others, physical fitness, and physical activity and participation. Immediate and moderate training effects were found for motor performance (Hedges' g=0.63, 95% CI [0.31, 0.94], pmotor performance. Motor skill interventions are effective in improving motor competence as well as performance on cognitive, emotional, and other psychological aspects in children with DCD in the short term. These effects are more robust in interventions utilizing a large training dose and a practicing schedule of high frequency. Copyright © 2018. Published by Elsevier Inc.
This is the second of two studies that described the use of telehealth language screening measures for use with young Spanish-speaking children. The purpose of this study was to describe the classification accuracy of individual telehealth language screening measures as well as the accuracy of combinations of measures used with Spanish-speaking toddler-age children from rural and underserved areas of the country. This study applied an asynchronous hybrid telehealth approach that implemented parent-structured play activities with a standard set of stimuli, and interaction with a My First Words e-book. These interactions were recorded with a mini camcorder. In addition, a traditional pen and paper parent questionnaire measure was collected. Sixty-two mostly Spanish-speaking preschool-age children and their parents participated. Twenty-two children had developmental language disorders (DLDs) and 40 had typical language development. Although several of the individual measures were significantly and strongly associated with standardized language scores, only reported vocabulary had classification accuracy values that were desirable for screening for DLDs. An improvement was observed when reported vocabulary was combined with a number of different words children produced during interactions with parents. This research provides additional evidence showing the effectiveness of a hybrid telehealth model in screening the language development of Spanish-speaking children. More specifically, reported vocabulary combined with number of different words produced by a child can provide informative and accurate diagnostic information when screening Spanish-speaking toddler-age children for DLDs. These findings replicate the first study in showing that hybrid telehealth approaches that combine the use of video technology and traditional pen and paper surveys yield strong results, and may be a viable screening alternative when face-to-face access to a bilingual provider is not
Maria De Angelis
Full Text Available This study aimed at investigating the fecal microbiota and metabolome of children with Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS and autism (AD in comparison to healthy children (HC. Bacterial tag-encoded FLX-titanium amplicon pyrosequencing (bTEFAP of the 16S rDNA and 16S rRNA analyses were carried out to determine total bacteria (16S rDNA and metabolically active bacteria (16S rRNA, respectively. The main bacterial phyla (Firmicutes, Bacteroidetes, Fusobacteria and Verrucomicrobia significantly (P<0.05 changed among the three groups of children. As estimated by rarefaction, Chao and Shannon diversity index, the highest microbial diversity was found in AD children. Based on 16S-rRNA and culture-dependent data, Faecalibacterium and Ruminococcus were present at the highest level in fecal samples of PDD-NOS and HC children. Caloramator, Sarcina and Clostridium genera were the highest in AD children. Compared to HC, the composition of Lachnospiraceae family also differed in PDD-NOS and, especially, AD children. Except for Eubacterium siraeum, the lowest level of Eubacteriaceae was found on fecal samples of AD children. The level of Bacteroidetes genera and some Alistipes and Akkermansia species were almost the highest in PDD-NOS or AD children as well as almost all the identified Sutterellaceae and Enterobacteriaceae were the highest in AD. Compared to HC children, Bifidobacterium species decreased in AD. As shown by Canonical Discriminant Analysis of Principal Coordinates, the levels of free amino acids and volatile organic compounds of fecal samples were markedly affected in PDD-NOS and, especially, AD children. If the gut microbiota differences among AD and PDD-NOS and HC children are one of the concomitant causes or the consequence of autism, they may have implications regarding specific diagnostic test, and/or for treatment and prevention.
Mutch, Raewyn C; Watkins, Rochelle; Bower, Carol
There is increasing attention on fetal alcohol spectrum disorders (FASD) in Australia, but there are limited data on their birth prevalence. Our aim was to report on the birth prevalence of FASD in Western Australia. Data on notified cases of FASD born in Western Australia 1980-2010 were identified from the Western Australian Register of Developmental Anomalies. Tabulated denominator data were obtained from the Midwives Notification System. Prevalence rates per 1000 births were calculated by demographic variables. Prevalence ratios (PRs) and 95% confidence intervals (CIs) of Aboriginal compared with non-Aboriginal prevalence rates were calculated. PRs were also calculated to compare rates for births 2000-2010 with 1980-1989. Two hundred ten cases of FASDs were identified: a birth prevalence of 0.26/1000 births (95% CI 0.23-0.30). The majority of cases reported were Aboriginal (89.5%), a rate of 4.08/1000, compared with 0.03/1000 in notified non-Aboriginal cases, giving a PR of 139 (95% CI 89-215). The prevalence of FASD in 2000-2010 was over twice that in 1980-1989 for both Aboriginal (PR 2.37; CI 1.60-3.51) and non-Aboriginal (PR 2.13; CI 0.68-6.69) children. There has been a twofold increase in FASD notifications in Western Australia over the last 30 years. Population surveillance data such as these are valuable in advocating for and monitoring the effectiveness of preventive activities and diagnostic and management services. © 2014 The Authors. Journal of Paediatrics and Child Health published by Wiley Publishing Asia Pty Ltd on behalf of Paediatrics and Child Health Division. (The Royal Australasian College of Physicians).
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.
Rhoad-Drogalis, Anna; Justice, Laura M; Sawyer, Brook E; O'Connell, Ann A
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. To examine the association between the quality of teacher-child relationships and teacher-rated classroom-learning behaviours of children with DLDs in both preschool and kindergarten. Longitudinal data were collected on 191 preschoolers (mean = 42.4 months of age, SD = 11.6 months) with DLDs in special education classrooms during preschool and in kindergarten. Teacher-child relationship quality was assessed in preschool, and children's classroom-learning behaviours were measured in preschool and kindergarten. Regression models were used to examine the relationship between teacher-child relationship quality and children's concurrent and future classroom-learning behaviours. Positive teacher-child relationship quality in preschool was associated with better classroom-learning behaviours in preschool and kindergarten for children with DLDs. Preschool teacher-child relationship quality characterized by low levels of conflict and high levels of closeness was associated with positive classroom-learning behaviours during preschool. Teacher-child conflict but not closeness was predictive of children's classroom-learning behaviours in kindergarten. These results suggest that the quality of the teacher-child relationship for children with DLDs during preschool is associated within their learning-related behaviours in the classroom both concurrently and in the subsequent year. Findings suggest that teacher-child relationships should be explored as a mechanism for improving the learning-related behaviours of children with DLDs. © 2017 Royal College of Speech and Language Therapists.
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.
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
Qureshi, Irfan A; Mehler, Mark F
There have been considerable advances in uncovering the complex genetic mechanisms that underlie nervous system disease pathogenesis, particularly with the advent of exome and whole genome sequencing techniques. The emerging field of epigenetics is also providing further insights into these mechanisms. Here, we discuss our understanding of the interplay that exists between genetic and epigenetic mechanisms in these disorders, highlighting the nascent field of epigenetic epidemiology-which focuses on analyzing relationships between the epigenome and environmental exposures, development and aging, other health-related phenotypes, and disease states-and next-generation research tools (i.e., those leveraging synthetic and chemical biology and optogenetics) for examining precisely how epigenetic modifications at specific genomic sites affect disease processes.
Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D; Clayton, Stephen; McRae, Jeremy F; van Kogelenberg, Margriet; King, Daniel A; Ambridge, Kirsty; Barrett, Daniel M; Bayzetinova, Tanya; Bevan, A Paul; Bragin, Eugene; Chatzimichali, Eleni A; Gribble, Susan; Jones, Philip; Krishnappa, Netravathi; Mason, Laura E; Miller, Ray; Morley, Katherine I; Parthiban, Vijaya; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Swaminathan, G Jawahar; Tivey, Adrian R; Middleton, Anna; Parker, Michael; Carter, Nigel P; Barrett, Jeffrey C; Hurles, Matthew E; FitzPatrick, David R; Firth, Helen V
Human genome sequencing has transformed our understanding of genomic variation and its relevance to health and disease, and is now starting to enter clinical practice for the diagnosis of rare diseases. The question of whether and how some categories of genomic findings should be shared with individual research participants is currently a topic of international debate, and development of robust analytical workflows to identify and communicate clinically relevant variants is paramount. The Deciphering Developmental Disorders (DDD) study has developed a UK-wide patient recruitment network involving over 180 clinicians across all 24 regional genetics services, and has performed genome-wide microarray and whole exome sequencing on children with undiagnosed developmental disorders and their parents. After data analysis, pertinent genomic variants were returned to individual research participants via their local clinical genetics team. Around 80,000 genomic variants were identified from exome sequencing and microarray analysis in each individual, of which on average 400 were rare and predicted to be protein altering. By focusing only on de novo and segregating variants in known developmental disorder genes, we achieved a diagnostic yield of 27% among 1133 previously investigated yet undiagnosed children with developmental disorders, whilst minimising incidental findings. In families with developmentally normal parents, whole exome sequencing of the child and both parents resulted in a 10-fold reduction in the number of potential causal variants that needed clinical evaluation compared to sequencing only the child. Most diagnostic variants identified in known genes were novel and not present in current databases of known disease variation. Implementation of a robust translational genomics workflow is achievable within a large-scale rare disease research study to allow feedback of potentially diagnostic findings to clinicians and research participants. Systematic recording
Ueno, Chiho; Oda, Hiroyuki; Inoue, Masaharu; Ariki, Nagako; Hasaba, Miho; Kinoshita, Toshihiko
Paraphilia refers to occasional concomitant disorders of pervasive developmental disorder (PDD). When a restricted interest of PDD is focused on a sexual object, paraphilia may be develop as a problematic symptom. However, having this concomitant disorder does not always result in criminal behavior. When the social interactivity of a particular patient with PDD is severely impaired, paraphilia could lead to a sex crime. Because pedophilia targets sacrifice innocent and defenseless children, it is critical to prevent such sex crimes by understanding the psychopathology of PDD with paraphilia, especially pedophilia. Two cases of male adolescents with high-functioning PDD and pedophilia were reported; one ended up committing a serious crime, and the other controlled his sexual impulse. The psychopathology of these two cases was similar; however, the outcome turned out to be quite different. The similarity and dissimilarity of these two cases were analyzed. We came to a conclusion that early intervention could be a key to prevent the development of criminal sexual behavior in PDD with paraphilia (pedophilia). Both patients became aware of pedophilia during adolescence and developed a depressive state at the time of consulting our clinic. In the first case, the patient stabbed a woman with a knife. He could not respect other people, including women he was sexually interested in and has always been preoccupied with his own peculiar ideas. He did not listen to other people's opinions and his abnormal thoughts had never been corrected because of his lack of ability to form interpersonal relationships. The second patient could control his sexual impulse. He has an ability to sympathize with the child he is sexually interested in and has confronted his sexual impulses. He could build interpersonal relationship with others and listen to other people's opinions. He made an effort to manage his sexual impulses positively through individual psychotherapy. He was diagnosed at the
Angelman syndrome is a neurogenetic disorder characterized by developmental delay, severe intellectual disability, absent speech, exuberant behavior with happy demeanor, motor impairment, and epilepsy...
Kover, Sara T; Edmunds, Sarah R; Ellis Weismer, Susan
Recognizing early risk markers in young children with autism spectrum disorder (ASD) is critical for timely diagnosis and intervention. The purpose of this study was to extend previous findings regarding language milestones to a longitudinal design, in which ages of expressive language milestones (i.e., first words, first phrases) could serve as predictors of developmental trajectories in a heterogeneous sample of young children with ASD (N = 98; age at first assessment: M = 32 months, SD = 5). Age of first words predicted trajectories of expressive language and adaptive skills; number of words predicted each outcome examined. Because these aspects of early language show promise as potential indicators of later functional outcomes, future research on developmental processes as they relate to individual differences will be particularly informative.
Tallal, Paula; And Others
Reviews research toward defining the neuropathological mechanisms responsible for developmental dysphasia. Hypothesizes that higher level auditory processing dysfunction may result from more basic temporal processing deficits which interfere with resolution of brief duration stimuli. Suggests two alternative hypotheses regarding the…
Full Text Available Urban overpass is an important component of transportation system. Health condition of overpass is essential to guarantee the safe operation of urban traffic. Therefore, damage identification of urban overpass possesses important practical significance. In this paper, finite element model of left auxiliary bridge of Qianjin Overpass is constructed and vulnerable sections of structure are chosen as objects for damage recognition. Considering the asymmetry of Qianjin bridge, change rate of modal frequency and strain ratio are selected as input parameters for hybrid neurogenetic algorithm, respectively. Identification effects of damage location and severity are investigated and discussed. The results reveal that the proposed method can successfully identify locations and severities with single and multiple damage locations; its interpolation ability is better than extrapolation ability. Comparative analysis with BP neural network is conducted and reveals that the damage identification accuracy of hybrid neurogenetic algorithm is superior to BP. The effectiveness between dynamic and static properties as input variable is also analyzed. It indicates that the identification effect of strain ratios is more satisfactory than frequency ratio.
Full Text Available What is particularly worth remembering about a traumatic experience is what brought it about, and what made it cease. For example, fruit flies avoid an odour which during training had preceded electric shock punishment; on the other hand, if the odour had followed shock during training, it is later on approached as a signal for the relieving end of shock. We provide a neurogenetic analysis of such relief learning. Blocking, using UAS-shibirets1, the output from a particular set of dopaminergic neurons defined by the TH-Gal4 driver partially impaired punishment learning, but left relief learning intact. Thus, with respect to these particular neurons, relief learning differs from punishment learning. Targeting another set of dopaminergic/ serotonergic neurons defined by the DDC-Gal4 driver on the other hand affected neither punishment nor relief learning. As for the octopaminergic system, the tbhM18 mutation, compromising octopamine biosynthesis, partially impaired sugar-reward learning, but not relief learning. Thus, with respect to this particular mutation, relief learning and reward learning are dissociated. Finally, blocking output from the set of octopaminergic/ tyraminergic neurons defined by the TDC2-Gal4 driver affected neither reward, nor relief learning. We conclude that regarding the used genetic tools, relief learning is neurogenetically dissociated from both punishment and reward learning.
Full Text Available Knowledge of genetic influences on cognitive aging can constrain and guide interventions aimed at limiting age-related cognitive decline in older adults. Progress in understanding the neural basis of cognitive aging also requires a better understanding of the neurogenetics of cognition. This selective review article describes studies aimed at deriving specific neurogenetic information from three parallel and interrelated phenotype based approaches: psychometric constructs, cognitive neuroscience based processing measures, and brain imaging morphometric data. Developments in newer genetic analysis tools, including genome wide association, are also described. In particular, we focus on models for establishing genotype-phenotype associations within an explanatory framework linking molecular, brain, and cognitive levels of analysis. Such multiple-phenotype approaches indicate that individual variation in genes central to maintaining synaptic integrity, neurotransmitter function, and synaptic plasticity are important in affecting age-related changes in brain structure and cognition. Investigating phenotypes at multiple levels is recommended as a means to advance understanding of the neural impact of genetic variants relevant to cognitive aging. Further knowledge regarding the mechanisms of interaction between genetic and preventative procedures will in turn help in understanding the ameliorative effect of various experiential and lifestyle factors on age-related cognitive decline.
Bair, Woei-Nan; Kiemel, Tim; Jeka, John J.; Clark, Jane E.
Background Developmental Coordination Disorder (DCD) is a leading movement disorder in children that commonly involves poor postural control. Multisensory integration deficit, especially the inability to adaptively reweight to changing sensory conditions, has been proposed as a possible mechanism but with insufficient characterization. Empirical quantification of reweighting significantly advances our understanding of its developmental onset and improves the characterization of its difference in children with DCD compared to their typically developing (TD) peers. Methodology/Principal Findings Twenty children with DCD (6.6 to 11.8 years) were tested with a protocol in which visual scene and touch bar simultaneously oscillateded medio-laterally at different frequencies and various amplitudes. Their data were compared to data on TD children (4.2 to 10.8 years) from a previous study. Gains and phases were calculated for medio-lateral responses of the head and center of mass to both sensory stimuli. Gains and phases were simultaneously fitted by linear functions of age for each amplitude condition, segment, modality and group. Fitted gains and phases at two comparison ages (6.6 and 10.8 years) were tested for reweighting within each group and for group differences. Children with DCD reweight touch and vision at a later age (10.8 years) than their TD peers (4.2 years). Children with DCD demonstrate a weak visual reweighting, no advanced multisensory fusion and phase lags larger than those of TD children in response to both touch and vision. Conclusions/Significance Two developmental perspectives, postural body scheme and dorsal stream development, are provided to explain the weak vision reweighting. The lack of multisensory fusion supports the notion that optimal multisensory integration is a slow developmental process and is vulnerable in children with DCD. PMID:22815872
Full Text Available Developmental Coordination Disorder (DCD is a leading movement disorder in children that commonly involves poor postural control. Multisensory integration deficit, especially the inability to adaptively reweight to changing sensory conditions, has been proposed as a possible mechanism but with insufficient characterization. Empirical quantification of reweighting significantly advances our understanding of its developmental onset and improves the characterization of its difference in children with DCD compared to their typically developing (TD peers.Twenty children with DCD (6.6 to 11.8 years were tested with a protocol in which visual scene and touch bar simultaneously oscillateded medio-laterally at different frequencies and various amplitudes. Their data were compared to data on TD children (4.2 to 10.8 years from a previous study. Gains and phases were calculated for medio-lateral responses of the head and center of mass to both sensory stimuli. Gains and phases were simultaneously fitted by linear functions of age for each amplitude condition, segment, modality and group. Fitted gains and phases at two comparison ages (6.6 and 10.8 years were tested for reweighting within each group and for group differences. Children with DCD reweight touch and vision at a later age (10.8 years than their TD peers (4.2 years. Children with DCD demonstrate a weak visual reweighting, no advanced multisensory fusion and phase lags larger than those of TD children in response to both touch and vision.Two developmental perspectives, postural body scheme and dorsal stream development, are provided to explain the weak vision reweighting. The lack of multisensory fusion supports the notion that optimal multisensory integration is a slow developmental process and is vulnerable in children with DCD.
Hua, Jing; Meng, Wei; Wu, Zhuochun; Zhang, Lijun; Gu, Guixiong; Zhu, Liping
A population-based study on developmental coordination disorder (DCD) was conducted in Suzhou to explore the impacts of family and kindergarten environment on pre school children with DCD so as to provide a basis for etiological research and early intervention. Stratified clustered sampling was used to select 160 classes from randomly selected 15 public nursery schools distributed throughout the five main districts in Suzhou city. A total of 4 001 children were included in the study. The family environment scale on motor development for urban preschool children (FESMDPU) which was established by our study group and early childhood environment rating scale-revised (ECERS-R) which has been applied well in China were used to assess the family and kindergarten's environment. The multilevel logistic regression was used to analyze the risk factors of DCD when kindergarten environment were considered as "context variables" and the family environment as "individual variables". According to DSM-IV criteria, a total of 330 children were diagnosed as DCD. The prevalence of DCD was 8.3%. However, there were differences between the two groups in age, gender and Kaup index (all P family material environment" "family rearing environment" in DCD group were 48.00, 51.00, 49.00, 39.00, and 30.00, respectively, which were higher than those of control group (45.00, 50.00, 47.00, 41.00, 31.00) with statistical significance (U = 455 446.000, 550 787.000, 508 109.000, 543 159.000, and 490 119.000, P family environment were compared after the clustering. The results showed that the distribution of the rates in different levels between the DCD and control group were different with statistical significance (χ(2) = 51.091, 9.295, 35.464, 15.174, 13.500, P family per-capita income of every month (all P > 0.05). The results of the multilevel logistic regression model showed that when children's gender, age and Kaup index were controlled, "class space and faculty" "class activity" "class
Wegbreit, Ezra; Cushman, Grace K.; Puzia, Megan E.; Weissman, Alexandra B.; Kim, Kerri L.; Laird, Angela R.; Dickstein, Daniel P.
Context Bipolar disorder (BD) is a debilitating mental illness associated with high costs to diagnosed individuals and society. Within the past two decades, increasing numbers of children and adolescents have been diagnosed with BD. While functional magnetic resonance imaging (fMRI) studies have begun to investigate the neural mechanisms underlying BD, few have directly compared differences in BD-youths and BD-adults. Objective To address this gap, we conducted activation likelihood estimation (ALE) meta-analyses directly comparing the voxel-wise convergence of fMRI findings in BD-youths versus BD-adults, both relative to healthy control (HC) participants. We hypothesized that BD-youths (fMRI articles. Study Selection 21 pediatric studies, 73 adult studies, and 2 studies containing distinct pediatric and adult groups within the same study met inclusion criteria for our ALE analyses. Data Extraction and Synthesis Coordinates of significant between-group differences were extracted from each published study. Recent improvements in GingerALE software were employed to perform direct comparisons of pediatric and adult fMRI findings. Results Analyses of emotional face recognition fMRI studies showed significantly greater convergence of amygdala hyper-activation among BD-youths than BD-adults. More broadly, analyses of fMRI studies employing emotional stimuli showed significantly greater convergence of hyper-activation among BD-youths than BD-adults in the inferior frontal gyrus and precuneus. In contrast, analyses of fMRI studies employing non-emotional cognitive tasks and also analyses aggregating emotional and non-emotional tasks showed significantly greater convergence of hypo-activation among BD-youths than BD-adults in the anterior cingulate cortex. Conclusions Our data suggest that amygdala, prefrontal, and visual system hyper-activation is important in the emotional dysfunction present in BD-youths, and that anterior cingulate cortex hypo-activation is relevant to
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
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…