Neurodevelopmental behavioral and cognitive disorders.

PubMed

Jeste, Shafali Spurling

2015-06-01

Neurodevelopmental disorders are a group of heterogeneous conditions characterized by a delay or disturbance in the acquisition of skills in a variety of developmental domains, including motor, social, language, and cognition. This article reviews the most commonly diagnosed neurodevelopmental disorders, which include attention deficit hyperactivity disorder (ADHD), autism spectrum disorder, global developmental delay, and intellectual disability and also provides updates on diagnosis, neurobiology, treatment, and issues surrounding the transition to adulthood. Although symptoms emerge at discrete points in childhood, these disorders result from abnormal brain maturation that likely precedes clinical impairment. As a result, research has focused on the identification of predictive biological and behavioral markers, with the ultimate goal of initiating treatments that may either alter developmental trajectories or lessen clinical severity. Advances in the methods used to identify genetic variants, from chromosomal microarray analysis to whole exome sequencing, have facilitated the characterization of many genetic mutations and syndromes that share common pathways to abnormal circuit formation and brain development. Not only do genetic discoveries enrich our understanding of mechanisms underlying atypical development, but they also allow us to identify more homogeneous subgroups within this spectrum of conditions. Impairments do continue into adulthood, with challenges in the transition to adulthood including the management of comorbidities and the provision of educational and vocational supports. Advances in our understanding of the neurobiology and developmental trajectories of these disorders will pave the way for tremendous advances in treatment. Mechanism-based therapies for genetic syndromes are being studied with the goal of expanding targeted treatments to nonsyndromic forms of neurodevelopmental disorders.

Information for Parents and Teachers on the European Academy for Childhood Disability (EACD) Recommendations on Developmental Coordination Disorder

ERIC Educational Resources Information Center

Blank, Rainer

2012-01-01

Developmental coordination disorder (DCD) is a condition characterized by difficulty in the development of motor coordination and learning new motor skills. It impacts on a child's ability to carry out everyday tasks such as getting dressed, using cutlery, writing or drawing, running, and playing sport. It is not due to any intellectual difficulty…

Adults with Asperger Syndrome: A Childhood Disorder Grows Up

ERIC Educational Resources Information Center

Wilkinson, Lee A.

2007-01-01

Asperger syndrome is a chronic developmental disorder characterized by problems in social relatedness, empathic communication and understanding, and circumscribed interests. The inclusion of Asperger's Disorder (Asperger syndrome) in the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-IV; American Psychiatric Association, 1994), has…

Developmental pathways to autism: A review of prospective studies of infants at risk☆

PubMed Central

Jones, Emily J.H.; Gliga, Teodora; Bedford, Rachael; Charman, Tony; Johnson, Mark H.

2014-01-01

Autism Spectrum Disorders (ASDs) are neurodevelopmental disorders characterized by impairments in social interaction and communication, and the presence of restrictive and repetitive behaviors. Symptoms of ASD likely emerge from a complex interaction between pre-existing neurodevelopmental vulnerabilities and the child's environment, modified by compensatory skills and protective factors. Prospective studies of infants at high familial risk for ASD (who have an older sibling with a diagnosis) are beginning to characterize these developmental pathways to the emergence of clinical symptoms. Here, we review the range of behavioral and neurocognitive markers for later ASD that have been identified in high-risk infants in the first years of life. We discuss theoretical implications of emerging patterns, and identify key directions for future work, including potential resolutions to several methodological challenges for the field. Mapping how ASD unfolds from birth is critical to our understanding of the developmental mechanisms underlying this disorder. A more nuanced understanding of developmental pathways to ASD will help us not only to identify children who need early intervention, but also to improve the range of interventions available to them. PMID:24361967

Prevalence of Autism Spectrum Disorders: Autism and Developmental Disabilities Monitoring Network, United States, 2006. Morbidity and Mortality Weekly Report. Surveillance Summaries. Volume 58, Number SS-10

ERIC Educational Resources Information Center

Rice, Catherine

2009-01-01

Problem/Condition: Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by atypical development in socialization, communication, and behavior. ASDs typically are apparent before age 3 years, with associated impairments affecting multiple areas of a person's life. Because no biologic marker exists for ASDs,…

Children with Comorbid Speech Sound Disorder and Specific Language Impairment Are at Increased Risk for Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

McGrath, Lauren M.; Hutaff-Lee, Christa; Scott, Ashley; Boada, Richard; Shriberg, Lawrence D.; Pennington, Bruce F.

2008-01-01

This study focuses on the comorbidity between attention-deficit/hyperactivity disorder (ADHD) symptoms and speech sound disorder (SSD). SSD is a developmental disorder characterized by speech production errors that impact intelligibility. Previous research addressing this comorbidity has typically used heterogeneous groups of speech-language…

From emotion resonance to empathic understanding: a social developmental neuroscience account.

PubMed

Decety, Jean; Meyer, Meghan

2008-01-01

The psychological construct of empathy refers to an intersubjective induction process by which positive and negative emotions are shared, without losing sight of whose feelings belong to whom. Empathy can lead to personal distress or to empathic concern (sympathy). The goal of this paper is to address the underlying cognitive processes and their neural underpinnings that constitute empathy within a developmental neuroscience perspective. In addition, we focus on how these processes go awry in developmental disorders marked by impairments in social cognition, such as autism spectrum disorder, and conduct disorder. We argue that empathy involves both bottom-up and top-down information processing, underpinned by specific and interacting neural systems. We discuss data from developmental psychology as well as cognitive neuroscience in support of such a model, and highlight the impact of neural dysfunctions on social cognitive developmental behavior. Altogether, bridging developmental science and cognitive neuroscience helps approach a more complete understanding of social cognition. Synthesizing these two domains also contributes to a better characterization of developmental psychopathologies that impacts the development of effective treatment strategies.

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

PubMed Central

Cohen-Ophir, Michal; Castel-Deutsh, Tsophia; Tirosh, Emanuel

2012-01-01

Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry. PMID:22937419

Metabolic screening and metabolomics analysis in the Intellectual Developmental Disorders Mexico Study.

PubMed

Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela

2017-01-01

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. 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. Identification of new metabolomic profiles associated with IDD 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.

[Pervasive developmental disorder in adults; importance of diagnosis in concern to the type of ego structure with PDD].

PubMed

Hirosawa, Masataka

2011-01-01

Most adult patients with pervasive developmental disorder (PDD) who consult with psychiatrists for the first time may have normal intelligence. In diagnosing high-functioning PDD to adult patients, we should pay much attention to psychological consistency which exists between developmental problems in childhood, developed personality, recent problems in social adjustment, and manifested psychiatric symptoms. In order to understand these relationships, considering the patients' type of ego structure ("PDD ego type") seems to be useful. "PDD ego type" is characterized by their unique self-universe image which takes form of grid one (just like a touch panel), which is decisively different from the form of a radial or concentric circle held by most people (Jung, C.G). This self-universe image characterizes adult PDD patients' psychiatric symptoms, unsuitable social performance, and their "personality."

Childhood Disintegrative Disorder as a Complication of Chicken Pox.

PubMed

Verma, Jitendra Kumar; Mohapatra, Satyakam

2016-01-01

Childhood disintegrative disorder (CDD) is characterized by late onset (>3 years of age) of developmental delays in language, social function and motor skills. Commonly there is no antecedent physical disorder leading to childhood disintegrative disorder. The present case report describes a child who developed childhood disintegrative disorder at the age of 6 years after an episode of chicken pox.

Linkage of Speech Sound Disorder to Reading Disability Loci

ERIC Educational Resources Information Center

Smith, Shelley D.; Pennington, Bruce F.; Boada, Richard; Shriberg, Lawrence D.

2005-01-01

Background: Speech sound disorder (SSD) is a common childhood disorder characterized by developmentally inappropriate errors in speech production that greatly reduce intelligibility. SSD has been found to be associated with later reading disability (RD), and there is also evidence for both a cognitive and etiological overlap between the two…

Neural Correlates of Verbal and Nonverbal Semantic Integration in Children with Autism Spectrum Disorders

ERIC Educational Resources Information Center

McCleery, Joseph P.; Ceponiene, Rita; Burner, Karen M.; Townsend, Jeanne; Kinnear, Mikaela; Schreibman, Laura

2010-01-01

Background: Autism is a pervasive developmental disorder characterized by deficits in social-emotional, social-communicative, and language skills. Behavioral and neuroimaging studies have found that children with autism spectrum disorders (ASD) evidence abnormalities in semantic processing, with particular difficulties in verbal comprehension.…

Attention-Deficit/Hyperactivity Disorder (ADHD). NetNews. Volume 7, Number 2

ERIC Educational Resources Information Center

LDA of Minnesota, 2007

2007-01-01

Attention-Deficit/Hyperactivity Disorder (ADHD) is a neurobiological disorder that is characterized by developmentally inappropriate levels of inattention, impulsivity, and hyperactivity. Between 3% and 7% of school-aged children are affected by ADHD. ADHD is a lifespan condition that affects children, adolescents and adults of all ages. It…

Intellectual developmental disorders: towards a new name, definition and framework for "mental retardation/intellectual disability" in ICD-11.

PubMed

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

2011-10-01

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.

Motor Stereotypies in Children with Autism and Other Developmental Disorders

ERIC Educational Resources Information Center

Goldman, Sylvie; Wang, Cuiling; Salgado, Miran W.; Greene, Paul E.; Kim, Mimi; Rapin, Isabelle

2009-01-01

The purpose of the study was to count and characterize the range of stereotypies--repetitive rhythmical, apparently purposeless movements--in developmentally impaired children with and without autism, and to determine whether some types are more prevalent and diagnostically useful in children with autism. We described each motor stereotypy…

When Autism Strikes: Families Cope with Childhood Disintegrative Disorder.

ERIC Educational Resources Information Center

Catalano, Robert A.

This book examines childhood disintegrative disorder, which is seen to be a disorder apart from autism although it has sometimes been called "late onset autism". The condition is characterized by sudden onset and severe developmental regression between 3 and 5 years of age after previously normal development. The long-term outcome is…

Increasing Communication Skills: A Case Study of a Man with Autism Spectrum Disorder and Vision Loss

ERIC Educational Resources Information Center

Kee, S. Brian; Casey, Laura Baylot; Cea, Clayton R.; Bicard, David F.; Bicard, Sara E.

2012-01-01

According to the "Diagnostic and Statistical Manual of Mental Disorders" (DSM-IV-TR; American Psychiatric Association, APA, 2000), autism is a neurodevelopmental disorder that is characterized by impairments in social and communicative behaviors with great variations in ability, depending on developmental level, intelligence, and chronological…

The Expression of Caspases Is Enhanced in Peripheral Blood Mononuclear Cells of Autism Spectrum Disorder Patients

ERIC Educational Resources Information Center

Siniscalco, Dario; Sapone, Anna; Giordano, Catia; Cirillo, Alessandra; de Novellis, Vito; de Magistris, Laura; Rossi, Francesco; Fasano, Alessio; Maione, Sabatino; Antonucci, Nicola

2012-01-01

Autism and autism spectrum disorders (ASDs) are heterogeneous complex neuro-developmental disorders characterized by dysfunctions in social interaction and communication skills. Their pathogenesis has been linked to interactions between genes and environmental factors. Consistent with the evidence of certain similarities between immune cells and…

Gender Differences in Anxiety Trajectories from Middle to Late Adolescence

PubMed Central

Ohannessian, Christine McCauley; Milan, Stephanie; Vannucci, Anna

2016-01-01

Although developmental trajectories of anxiety symptomatology have begun to be explored, most research has focused on total anxiety symptom scores during childhood and early adolescence, using racially/ethnically homogenous samples. Understanding the heterogeneous courses of anxiety disorder symptoms during middle to late adolescence has the potential to clarify developmental risk models of anxiety and to inform prevention programs. Therefore, this study specifically examined gender differences in developmental trajectories of anxiety disorder symptoms (generalized anxiety disorder, panic disorder, and social anxiety disorder) from middle to late adolescence in a diverse community sample (N=1,000; 57% female; 65% White), assessed annually over two years. Latent growth curve modeling revealed that girls exhibited a slight linear decrease in generalized anxiety disorder, panic disorder, and social anxiety disorder symptoms, whereas boys exhibited a stable course. These models suggested that one trajectory was appropriate for panic disorder symptoms in both girls and boys. Growth mixture models indicated the presence of four latent generalized anxiety disorder symptom trajectory classes: low increasing, moderate decreasing slightly, high decreasing, and very high decreasing rapidly. Growth mixture models also suggested the presence of five latent social anxiety disorder symptom trajectory classes: a low stable trajectory class and four classes that were qualitatively similar to the latent generalized anxiety disorder trajectories. For both generalized anxiety disorder and social anxiety disorder symptoms, girls were significantly more likely than boys to be in trajectory classes characterized by moderate or high initial symptoms that subsequently decreased over time. These findings provide novel information regarding the developmental course of anxiety disorder symptoms in adolescents. PMID:27889856

Visual Illusions: An Interesting Tool to Investigate Developmental Dyslexia and Autism Spectrum Disorder

PubMed Central

Gori, Simone; Molteni, Massimo; Facoetti, Andrea

2016-01-01

A visual illusion refers to a percept that is different in some aspect from the physical stimulus. Illusions are a powerful non-invasive tool for understanding the neurobiology of vision, telling us, indirectly, how the brain processes visual stimuli. There are some neurodevelopmental disorders characterized by visual deficits. Surprisingly, just a few studies investigated illusory perception in clinical populations. Our aim is to review the literature supporting a possible role for visual illusions in helping us understand the visual deficits in developmental dyslexia and autism spectrum disorder. Future studies could develop new tools – based on visual illusions – to identify an early risk for neurodevelopmental disorders. PMID:27199702

Avoidant Attachment Style Indicates Job Adaptation of People with High Functional Autistic Spectrum Disorders

ERIC Educational Resources Information Center

Yokotani, Kenji

2011-01-01

The aim of the present study was to investigate whether or not the avoidant attachment style indicates job adaptation of people with High Functional Autistic Spectrum Disorders (HFASD). HFASD are groups of developmental disorders characterized by impairment of social interaction and normal level of intelligence. Twenty-two people with HFASD…

Developmental neurogenetics and neuro-ophthalmology.

PubMed

Bennett, Jeffrey L

2002-12-01

The field of developmental neurogenetics has burgeoned over the past decade. Through the combined efforts of developmental biologists, geneticists, and clinicians, genetic defects resulting in neuro-ophthalmic disorders such as holoprosencephaly, microphthalmia, dominant optic atrophy, and optic nerve colobomas have been identified and characterized at the molecular level. Experimental studies in model organisms are continuing to identify novel genes critical for ocular and central nervous system development. Mutations in some of these genes have revealed a spectrum of pathology similar to that observed in septo-optic dysplasia, Möebius syndrome, and Duane retraction syndrome. This review examines our current knowledge of the molecular genetics of neuro-ophthalmic disease and focuses on several candidate genes for afferent and efferent visual system disorders.

Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11

PubMed Central

CARULLA, LUIS SALVADOR; REED, GEOFFREY M.; VAEZ-AZIZI, LEILA M.; COOPER, SALLY-ANN; LEAL, RAFAEL MARTINEZ; BERTELLI, MARCO; ADNAMS, COLLEEN; COORAY, SHERVA; DEB, SHOUMITRO; DIRANI, LEYLA AKOURY; GIRIMAJI, SATISH CHANDRA; KATZ, GREGORIO; KWOK, HENRY; LUCKASSON, RUTH; SIMEONSSON, RUNE; WALSH, CAROLYN; MUNIR, KEMIR; SAXENA, SHEKHAR

2011-01-01

Although “intellectual disability” has widely replaced the term “mental retardation”, the debate as to whether this entity should be conceptualized as a health condition or as a disability has intensified as the revision of the World Health Organization (WHO)’s International Classification of Diseases (ICD) advances. Defining intellectual disability as a health condition is central to retaining it in ICD, with significant implications for health policy and access to health services. This paper presents the consensus reached to date by the WHO ICD Working Group on the Classification of Intellectual Disabilities. Literature reviews were conducted and a mixed qualitative approach was followed in a series of meetings to produce consensus-based recommendations combining prior expert knowledge and available evidence. The Working Group proposes replacing mental retardation with intellectual developmental disorders, defined as “a group of developmental conditions characterized by significant impairment of cognitive functions, which are associated with limitations of learning, adaptive behaviour and skills”. The Working Group further advises that intellectual developmental disorders be incorporated in the larger grouping (parent category) of neurodevelopmental disorders, that current subcategories based on clinical severity (i.e., mild, moderate, severe, profound) be continued, and that problem behaviours be removed from the core classification structure of intellectual developmental disorders and instead described as associated features. PMID:21991267

Developmental Alterations of Frontal-Striatal-Thalamic Connectivity in Obsessive-Compulsive Disorder

ERIC Educational Resources Information Center

Fitzgerald, Kate Dimond; Welsh, Robert C.; Stern, Emily R.; Angstadt, Mike; Hanna, Gregory L.; Abelson, James L.; Taylor, Stephan F.

2011-01-01

Objective: Pediatric obsessive-compulsive disorder is characterized by abnormalities of frontal-striatal-thalamic circuitry that appear near illness onset and persist over its course. Distinct frontal-striatal-thalamic loops through cortical centers for cognitive control (anterior cingulate cortex) and emotion processing (ventral medial frontal…

Teaching Discriminated Social Approaches to Individuals with Angelman Syndrome

ERIC Educational Resources Information Center

Fichtner, Caitlin S.; Tiger, Jeffrey H.

2015-01-01

Angelman syndrome is a neurogenetic disorder characterized by intellectual and developmental disability. Common behavioral characteristics of this disorder include a heightened interest in social interactions and frequent bids to initiate interaction. These bids can be problematic, for instance, when a child attempts to hug strangers in public…

Benefits of Including Siblings in the Treatment of Autism Spectrum Disorders

ERIC Educational Resources Information Center

Ferraioli, Suzannah J.; Hansford, Amy; Harris, Sandra L.

2012-01-01

Having a brother or sister with an autism spectrum disorder (ASD) can significantly impact the life of a typically developing sibling. These relationships are generally characterized by less frequent and nurturing interactions than are evident in sibling constellations with neurotypical children or children with other developmental disabilities.…

Examining the Criterion-Related Validity of the Pervasive Developmental Disorder Behavior Inventory

ERIC Educational Resources Information Center

McMorris, Carly A.; Perry, Adrienne

2015-01-01

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…

Social Outcomes in Childhood Brain Disorder: A Heuristic Integration of Social Neuroscience and Developmental Psychology

PubMed Central

Yeates, Keith Owen; Bigler, Erin D.; Dennis, Maureen; Gerhardt, Cynthia A.; Rubin, Kenneth H.; Stancin, Terry; Taylor, H. Gerry; Vannatta, Kathryn

2010-01-01

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

Development of Multisensory Reweighting Is Impaired for Quiet Stance Control in Children with Developmental Coordination Disorder (DCD)

PubMed Central

Bair, Woei-Nan; Kiemel, Tim; Jeka, John J.; Clark, Jane E.

2012-01-01

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

Genetics Home Reference: PPP2R5D-related intellectual disability

MedlinePlus

... and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder , which is characterized by impaired communications ... Increased Head Circumference Encyclopedia: Intellectual Disability Health Topic: Autism Spectrum ... Topic: Developmental Disabilities Additional NIH ...

Recognizing the Common Origins of Dystonia and the Development of Human Movement: A Manifesto of Unmet Needs in Isolated Childhood Dystonias

PubMed Central

Lin, Jean-Pierre; Nardocci, Nardo

2016-01-01

Dystonia in childhood may be severely disabling and often unremitting and unrecognized. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy (CP), autism, neurometabolic, neuroinflammatory, and neurogenetic disorders. Collectively, there is a need to recognize the role of early postures and movements which characterize phases of normal fetal, infant, and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of cocontraction is explored throughout infancy, childhood, young adulthood, and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within CP is reviewed. Original descriptions of CP by Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible are desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate. A developmental neurobiological perspective could also be useful in exploring new clinical strategies for adult-onset dystonia disorders focusing on environmental and molecular interactions and systems behaviors. PMID:28066314

Is prenatal smoking associated with a developmental pattern of conduct problems in young boys?

PubMed

Wakschlag, Lauren S; Pickett, Kate E; Kasza, Kristen E; Loeber, Rolf

2006-04-01

Prenatal smoking is robustly associated with increased risk of conduct problems in offspring. Observational studies that provide detailed phenotypic description are critical for generating testable hypotheses about underlying processes through which the effects of prenatal smoking may operate. To this end, we use a developmental framework to examine the association of exposure with (1) oppositional defiant disorder and attention-deficit/hyperactivity disorder in young boys and (2) the pattern of delinquent behavior at adolescence. Using diagnostic measures and repeated measures of delinquency, we compare exposed and nonexposed boys from the youngest cohort of the Pittsburgh Youth Study (N = 448). Exposed boys were significantly more likely to (1) develop oppositional defiant disorder and comorbid oppositional defiant disorder-attention-deficit/hyperactivity disorder but not attention-deficit/hyperactivity disorder alone and (2) to have an earlier onset of significant delinquent behavior. The early emergence and developmental coherence of exposure-related conduct problems is striking and is consistent with a behavioral teratological model. Phenotypically, exposure-related conduct problems appear to be characterized by socially resistant and impulsively aggressive behavior. Whether prenatal smoking plays an etiological role in or is a risk marker for the development of conduct problems, exposed offspring are at increased risk of an early-starter pathway to conduct problems.

[Developmental disorders in adulthood: concept, differential diagnosis, and treatment].

PubMed

Honda, Hideo

2014-01-01

The number of cases diagnosed with developmental disorders is rapidly increasing among those consulting psychiatry clinics for the first time in their adulthood. The author presents the concept of developmental disorders, discusses how they can be differentiated from other psychiatric disorders, and proposes some treatments. From now on, all psychiatrists should know the difference between developmental disorders and other psychiatric disorders, and diagnose them multi-axially, including the dimension of development. They should always keep in mind how developmental disorders lead to difficulties in everyday life, and treat developmental disorders in conjunction with adequate environmental modifications along with the treatment of other comorbid psychiatric disorders.

Identification of Expanded Alleles of the "FMR1" Gene in the CHildhood Autism Risks from Genes and Environment (CHARGE) Study

ERIC Educational Resources Information Center

Tassone, Flora; Choudhary, Nimrah S.; Tassone, Federica; Durbin-Johnson, Blythe; Hansen, Robin; Hertz-Picciotto, Irva; Pessah, Isaac

2013-01-01

Fragile X syndrome (FXS) is a neuro-developmental disorder characterized by intellectual disabilities and autism spectrum disorders (ASD). Expansion of a CGG trinucleotide repeat (greater than 200 repeats) in the 5'UTR of the fragile X mental retardation gene, is the single most prevalent cause of cognitive disabilities. Several screening studies…

New Insights on Developmental Dyslexia Subtypes: Heterogeneity of Mixed Reading Profiles

PubMed Central

Zoubrinetzky, Rachel; Bielle, Frédérique; Valdois, Sylviane

2014-01-01

We examined whether classifications based on reading performance are relevant to identify cognitively homogeneous subgroups of dyslexic children. Each of the 71 dyslexic participants was selected to have a mixed reading profile, i.e. poor irregular word and pseudo-word reading performance (accuracy and speed). Despite their homogeneous reading profile, the participants were found to split into four distinct cognitive subgroups, characterized by a single phonological disorder, a single visual attention span disorder, a double deficit or none of these disorders. The two subgroups characterized by single and contrasted cognitive disorders were found to exhibit a very similar reading pattern but more contrasted spelling performance (quantitative analysis). A qualitative analysis of the error types produced in reading and spelling provided some cues about the participants' underlying cognitive deficit. The overall findings disqualify subtyping based on reading profiles as a classification method to identify cognitively homogeneous subgroups of dyslexic children. They rather show an opaque relationship between the cognitive underpinnings of developmental dyslexia and their behavioral manifestations in reading and spelling. Future neuroimaging and genetic studies should take this issue into account since synthesizing over cognitively heterogeneous children would entail potential pitfalls. PMID:24918441

Impaired encoding of rapid pitch information underlies perception and memory deficits in congenital amusia.

PubMed

Albouy, Philippe; Cousineau, Marion; Caclin, Anne; Tillmann, Barbara; Peretz, Isabelle

2016-01-06

Recent theories suggest that the basis of neurodevelopmental auditory disorders such as dyslexia or specific language impairment might be a low-level sensory dysfunction. In the present study we test this hypothesis in congenital amusia, a neurodevelopmental disorder characterized by severe deficits in the processing of pitch-based material. We manipulated the temporal characteristics of auditory stimuli and investigated the influence of the time given to encode pitch information on participants' performance in discrimination and short-term memory. Our results show that amusics' performance in such tasks scales with the duration available to encode acoustic information. This suggests that in auditory neuro-developmental disorders, abnormalities in early steps of the auditory processing can underlie the high-level deficits (here musical disabilities). Observing that the slowing down of temporal dynamics improves amusics' pitch abilities allows considering this approach as a potential tool for remediation in developmental auditory disorders.

Characteristics, correlates, and outcomes of childhood and adolescent depressive disorders

PubMed Central

Rao, Uma; Chen, Li-Ann

2009-01-01

Depressive illness beginning early in life can have serious developmental and functional consequences. Therefore, understanding the disorder during this developmental stage is critical for determining its etiology and course, as well as for deveiopinq effective intervention straieqies. This paper summarizes current knoviedqe reqardinq the etiology, phenomenoiogy, correlates, natural course, and consequences of unipolar depression in children and adolescents. Using adult depression as a framevork, the unique aspects of childhood and adolescence are considered in order to better understand depression within a developmental context. The data suggest that the clinical presentation, correlates, and natural course of depression are remarkably similar across the lifespan. There are, however, important developmental differences. Specifically, the familial and psychological context in which depression develops in youngsters is associated with variability in the frequency and nature of depressive symptoms and comorbid conditions among children and adolescents. Maturational differences have also been identified in the neurobiological correlates of depression. These developmental differences may be associated with the observed variability in clinical response to treatment and longitudinal course. Characterization of the developmental differences will be helpful in developing more specific and effective interventions for youngsters, thereby allowing them to reach their full potential as adults. PMID:19432387

[Asperger syndrome associated with macrosomia and sexual identity disorder].

PubMed

Fleta Zaragozano, J; Zapata Usábel, M; López Moreno, María J; Olivares López, J L

2005-10-01

Asperger Syndrome is a pervasive developmental disorder of unknown origin, characterized by pedantic language, lack of reciprocity in social interactions, unusual interests, motor clumsiness and normal or above average intelligence quotient, among other symptoms. Since 1994 it has been defined as a specific entity. We describe the case of a boy with this syndrome, with elevated body weight and height and sexual identity disorder. These alterations have not previously been described in the scientific literature on Asperger syndrome.

Toward Developmental Connectomics of the Human Brain

PubMed Central

Cao, Miao; Huang, Hao; Peng, Yun; Dong, Qi; He, Yong

2016-01-01

Imaging connectomics based on graph theory has become an effective and unique methodological framework for studying structural and functional connectivity patterns of the developing brain. Normal brain development is characterized by continuous and significant network evolution throughout infancy, childhood, and adolescence, following specific maturational patterns. Disruption of these normal changes is associated with neuropsychiatric developmental disorders, such as autism spectrum disorders or attention-deficit hyperactivity disorder. In this review, we focused on the recent progresses regarding typical and atypical development of human brain networks from birth to early adulthood, using a connectomic approach. Specifically, by the time of birth, structural networks already exhibit adult-like organization, with global efficient small-world and modular structures, as well as hub regions and rich-clubs acting as communication backbones. During development, the structure networks are fine-tuned, with increased global integration and robustness and decreased local segregation, as well as the strengthening of the hubs. In parallel, functional networks undergo more dramatic changes during maturation, with both increased integration and segregation during development, as brain hubs shift from primary regions to high order functioning regions, and the organization of modules transitions from a local anatomical emphasis to a more distributed architecture. These findings suggest that structural networks develop earlier than functional networks; meanwhile functional networks demonstrate more dramatic maturational changes with the evolution of structural networks serving as the anatomical backbone. In this review, we also highlighted topologically disorganized characteristics in structural and functional brain networks in several major developmental neuropsychiatric disorders (e.g., autism spectrum disorders, attention-deficit hyperactivity disorder and developmental dyslexia). Collectively, we showed that delineation of the brain network from a connectomics perspective offers a unique and refreshing view of both normal development and neuropsychiatric disorders. PMID:27064378

Onto-clust--a methodology for combining clustering analysis and ontological methods for identifying groups of comorbidities for developmental disorders.

PubMed

Peleg, Mor; Asbeh, Nuaman; Kuflik, Tsvi; Schertz, Mitchell

2009-02-01

Children with developmental disorders usually exhibit multiple developmental problems (comorbidities). Hence, such diagnosis needs to revolve on developmental disorder groups. Our objective is to systematically identify developmental disorder groups and represent them in an ontology. We developed a methodology that combines two methods (1) a literature-based ontology that we created, which represents developmental disorders and potential developmental disorder groups, and (2) clustering for detecting comorbid developmental disorders in patient data. The ontology is used to interpret and improve clustering results and the clustering results are used to validate the ontology and suggest directions for its development. We evaluated our methodology by applying it to data of 1175 patients from a child development clinic. We demonstrated that the ontology improves clustering results, bringing them closer to an expert generated gold-standard. We have shown that our methodology successfully combines an ontology with a clustering method to support systematic identification and representation of developmental disorder groups.

Concurrent validity of the differential ability scales, second edition with the Mullen Scales of Early Learning in young children with and without neurodevelopmental disorders.

PubMed

Farmer, Cristan; Golden, Christine; Thurm, Audrey

2016-01-01

Estimates of intelligence in young children with neurodevelopmental disorders are critical for making diagnoses, in characterizing symptoms of disorders, and in predicting future outcomes. The limitations of standardized testing for children with developmental delay or cognitive impairment are well known: Tests do not exist that provide developmentally appropriate material along with norms that extend to the lower reaches of ability. Two commonly used and interchanged instruments are the Mullen Scales of Early Learning (MSEL), a test of developmental level, and the Differential Ability Scales, second edition (DAS-II), a more traditional cognitive test. We evaluated the correspondence of contemporaneous MSEL and the DAS-II scores in a mixed sample of children aged 2-10 years with autism spectrum disorder (ASD), non-ASD developmental delays, and typically developing children across the full spectrum of cognitive ability. Consistent with published data on the original DAS and the MSEL, scores on the DAS-II and MSEL were highly correlated. However, curve estimation revealed large mean differences that varied as a function of the child's cognitive ability level. We conclude that interchanging MSEL and DAS-II scores without regard to the discrepancy in scores may produce misleading results in both cross-sectional and longitudinal studies of children with and without ASD, and, thus, this practice should be implemented with caution.

Review of Pharmacotherapy Options for the Treatment of Attention-Deficit/Hyperactivity Disorder (ADHD) and ADHD-Like Symptoms in Children and Adolescents with Developmental Disorders

ERIC Educational Resources Information Center

Rowles, Brieana M.; Findling, Robert L.

2010-01-01

Developmental disorders such as subaverage intelligence, pervasive developmental disorders, and genetic syndromes are frequently associated with comorbid attention-deficit/hyperactivity disorder (ADHD) or ADHD-like symptoms. While there are not pharmacological cures for these developmental disorders, coinciding ADHD and ADHD-like symptoms that…

Mental health trajectories from adolescence to adulthood: Language disorder and other childhood and adolescent risk factors.

PubMed

Bao, Lin; Brownlie, E B; Beitchman, Joseph H

2016-05-01

Longitudinal research on mental health development beyond adolescence among nonclinical populations is lacking. This study reports on psychiatric disorder trajectories from late adolescence to young adulthood in relation to childhood and adolescent risk factors. Participants were recruited for a prospective longitudinal study tracing a community sample of 5-year-old children with communication disorders and a matched control cohort to age 31. Psychiatric disorders were measured at ages 19, 25, and 31. Known predictors of psychopathology and two school-related factors specifically associated with language disorder (LD) were measured by self-reports and semistructured interviews. The LD cohort was uniquely characterized by a significantly decreasing disorder trajectory in early adulthood. Special education was associated with differential disorder trajectories between LD and control cohorts, whereas maltreatment history, specific learning disorder, family structure, and maternal psychological distress were associated with consistent trajectories between cohorts. From late adolescence to young adulthood, childhood LD was characterized by a developmentally limited course of psychiatric disorder; maltreatment was consistently characterized by an elevated risk of psychiatric disorder regardless of LD history, whereas special education was associated with significantly decreasing risk of psychiatric disorder only in the presence of LD.

Developmental dyscalculia.

PubMed

Price, Gavin R; Ansari, Daniel

2013-01-01

Developmental dyscalculia (DD) is a learning disorder affecting the acquisition of school level arithmetic skills present in approximately 3-6% of the population. At the behavioral level DD is characterized by poor retrieval of arithmetic facts from memory, the use of immature calculation procedures and counting strategies, and the atypical representation and processing of numerical magnitude. At the neural level emerging evidence suggests DD is associated with atypical structure and function in brain regions associated with the representation of numerical magnitude. The current state of knowledge points to a core deficit in numerical magnitude representation in DD, but further work is required to elucidate causal mechanisms underlying the disorder. Copyright © 2013 Elsevier B.V. All rights reserved.

Update on diagnostic classification in autism

PubMed Central

King, Bryan H.; Navot, Noa; Bernier, Raphael; Webb, Sara Jane

2016-01-01

Purpose of review In the lead up to and following the recent publication of the DSM-5, the diagnostic construct of autism has received intense scrutiny. Recent findings This article briefly reviews the history of the diagnosis of autism, the changes that have occurred in the diagnosis over time, and the rationale for change. The most significant changes being introduced with the DSM-5 are highlighted, as well as some of the concerns that will be a focus of attention with respect to the potential impacts going forward. Summary The categorical divisions that characterized the pervasive developmental disorders are now collapsed into a single entity, autism spectrum disorder. The final DSM-5 criteria have yet to be formally compared prospectively against prior criteria, but early indications suggest that the boundaries around the pervasive developmental disorders have not been substantially altered. PMID:24441420

Molecular genetics of inherited eye disorders.

PubMed

MacDonald, I M; Sasi, R

1994-10-01

In the past 10 y, there have been considerable advances in the mapping, isolation, and characterization of many genes for important ocular conditions: retinitis pigmentosa, Norrie disease, Waardenburg syndrome, choroideremia, aniridia, retinoblastoma, and others. The candidate gene approach has now supplemented classical linkage studies and positional cloning in the investigation of ocular disorders. Developmentally expressed genes and animal models have provided insights as to the etiology of other disorders. With this knowledge at hand, genetic counselling for heritable eye diseases has been greatly improved.

Fishing for Fetal Alcohol Spectrum Disorders: Zebrafish as a Model for Ethanol Teratogenesis.

PubMed

Lovely, Charles Ben; Fernandes, Yohaan; Eberhart, Johann K

2016-10-01

Fetal Alcohol Spectrum Disorders (FASD) describes a wide array of ethanol-induced developmental defects, including craniofacial dysmorphology and cognitive impairments. It affects ∼1 in 100 children born in the United States each year. Due to the pleiotropic effects of ethanol, animal models have proven critical in characterizing the mechanisms of ethanol teratogenesis. In this review, we focus on the utility of zebrafish in characterizing ethanol-induced developmental defects. A growing number of laboratories have focused on using zebrafish to examine ethanol-induced defects in craniofacial, cardiac, ocular, and neural development, as well as cognitive and behavioral impairments. Growing evidence supports that genetic predisposition plays a role in these ethanol-induced defects, yet little is understood about these gene-ethanol interactions. With a high degree of genetic amenability, zebrafish is at the forefront of identifying and characterizing the gene-ethanol interactions that underlie FASD. Because of the conservation of gene function between zebrafish and humans, these studies will directly translate to studies of candidate genes in human populations and allow for better diagnosis and treatment of FASD.

Development of brain-wide connectivity architecture in awake rats.

PubMed

Ma, Zilu; Ma, Yuncong; Zhang, Nanyin

2018-08-01

Childhood and adolescence are both critical developmental periods, evidenced by complex neurophysiological changes the brain undergoes and high occurrence rates of neuropsychiatric disorders during these periods. Despite substantial progress in elucidating the developmental trajectories of individual neural circuits, our knowledge of developmental changes of whole-brain connectivity architecture in animals is sparse. To fill this gap, here we longitudinally acquired rsfMRI data in awake rats during five developmental stages from juvenile to adulthood. We found that the maturation timelines of brain circuits were heterogeneous and system specific. Functional connectivity (FC) tended to decrease in subcortical circuits, but increase in cortical circuits during development. In addition, the developing brain exhibited hemispheric functional specialization, evidenced by reduced inter-hemispheric FC between homotopic regions, and lower similarity of region-to-region FC patterns between the two hemispheres. Finally, we showed that whole-brain network development was characterized by reduced clustering (i.e. local communication) but increased integration (distant communication). Taken together, the present study has systematically characterized the development of brain-wide connectivity architecture from juvenile to adulthood in awake rats. It also serves as a critical reference point for understanding circuit- and network-level changes in animal models of brain development-related disorders. Furthermore, FC data during brain development in awake rodents contain high translational value and can shed light onto comparative neuroanatomy. Copyright © 2018 Elsevier Inc. All rights reserved.

Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child

PubMed Central

Suzuki, Ryo; Tanaka, Atsushi; Matsui, Toshiharu; Gunji, Tetsuki; Tohyama, Jun; Nairita, Aya; Nanba, Eiji; Ohno, Kousaku

2015-01-01

Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disorder, often with onset after normal early childhood development. Juvenile onset NPC patients slowly develop cerebellar symptoms and cognitive impairment and often experience difficulties at school. However, these problems may be overlooked due to the unpublicized nature of NPC, given that it is a rare metabolic disorder. In this report, we present an 11-year-old male NPC patient, who suffered from clumsiness and difficulties in attention and academic and social skills. His symptoms were initially considered to be due to developmental coordination disorder (DCD) coexisting with bullying by peers. DCD is a type of neurodevelopmental disorder defined according to DSM-IV and is characterized by clumsiness that interferes with academic achievement and social integration not due to other general medical conditions. However, a detailed investigation of the patient suggested that the problems could be attributed to the onset of NPC. Clinicians should keep neurodegenerative disorders as differential diagnosis of children with multiple school problems. PMID:26788393

Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.

PubMed

Suzuki, Ryo; Tanaka, Atsushi; Matsui, Toshiharu; Gunji, Tetsuki; Tohyama, Jun; Nairita, Aya; Nanba, Eiji; Ohno, Kousaku

2015-01-01

Niemann-Pick disease type C (NPC) is a rare progressive neurodegenerative disorder, often with onset after normal early childhood development. Juvenile onset NPC patients slowly develop cerebellar symptoms and cognitive impairment and often experience difficulties at school. However, these problems may be overlooked due to the unpublicized nature of NPC, given that it is a rare metabolic disorder. In this report, we present an 11-year-old male NPC patient, who suffered from clumsiness and difficulties in attention and academic and social skills. His symptoms were initially considered to be due to developmental coordination disorder (DCD) coexisting with bullying by peers. DCD is a type of neurodevelopmental disorder defined according to DSM-IV and is characterized by clumsiness that interferes with academic achievement and social integration not due to other general medical conditions. However, a detailed investigation of the patient suggested that the problems could be attributed to the onset of NPC. Clinicians should keep neurodegenerative disorders as differential diagnosis of children with multiple school problems.

The "where" and "what" in developmental dyscalculia.

PubMed

Henik, Avishai; Rubinsten, Orly; Ashkenazi, Sarit

2011-08-01

Developmental dyscalculia (DD) is a congenital deficit that affects the ability to acquire arithmetical skills. Individuals with DD have problems learning standard number facts and procedures. Estimates of the prevalence rate of DD are similar to those of developmental dyslexia. Recent reports and discussions suggest that those with DD suffer from specific deficits (e.g., subitizing, comparative judgment). Accordingly, DD has been described as a domain-specific disorder that involves particular brain areas (e.g., intra-parietal sulcus). However, we and others have found that DD is characterized by additional deficiencies and may be affected by domain-general (e.g., attention) factors. Hence "pure DD" might be rather rare and not as pure as one would think. We suggest that the heterogeneity of symptoms that commonly characterize learning disabilities needs to be taken into account in future research and treatment.

ADHD-Related School Compositional Effects: An Exploration

ERIC Educational Resources Information Center

Stone, Susan; Brown, Timothy T.; Hinshaw, Stephen P.

2010-01-01

Background/Context: Children with attention-deficit/hyperactivity disorder (ADHD) provide a test case through which to investigate psychosocial school compositional effects. Characterized by developmentally atypical levels of inattention, activity, and impulsivity, the condition often manifests itself, and is identified, in school settings and is…

Children with co-occurring anxiety and externalizing disorders: family risks and implications for competence.

PubMed

Yoo, Joan P; Brown, Pamela J; Luthar, Suniya S

2009-10-01

This study used data from 340 mother-child dyads to examine characteristics of children with co-occurring diagnoses of anxiety and externalizing disorders and compared them with children with a sole diagnosis or no diagnosis. Comparisons were made using 4 child-diagnostic groups: anxiety-only, externalizing-only, co-occurrence, and no-problem groups. Most mothers were characterized by low income and histories of psychiatric diagnoses during the child's lifetime. Analyses using multinomial logistic regressions found the incidence of co-occurring childhood disorders to be significantly linked with maternal affective/anxiety disorders during the child's lifetime. In exploring implications for developmental competence, we found the co-occurrence group to have the lowest level of adaptive functioning among the 4 groups, faring significantly worse than the no-problem group on both academic achievement and intelligence as assessed by standardized tests. Findings underscore the importance of considering co-occurring behavior problems as a distinct phenomenon when examining children's developmental outcomes. (c) 2009 APA, all rights reserved.

Heterogeneity in development of aspects of working memory predicts longitudinal attention deficit hyperactivity disorder symptom change.

PubMed

Karalunas, Sarah L; Gustafsson, Hanna C; Dieckmann, Nathan F; Tipsord, Jessica; Mitchell, Suzanne H; Nigg, Joel T

2017-08-01

The role of cognitive mechanisms in the clinical course of neurodevelopmental disorders is poorly understood. Attention Deficit Hyperactivity Disorder (ADHD) is emblematic in that numerous alterations in cognitive development are apparent, yet how they relate to changes in symptom expression with age is unclear. To resolve the role of cognitive mechanisms in ADHD, a developmental perspective that takes into account expected within-group heterogeneity is needed. The current study uses an accelerated longitudinal design and latent trajectory growth mixture models in a sample of children ages 7-13 years carefully characterized as with (n = 437) and without (n = 297) ADHD to (a) identify heterogeneous developmental trajectories for response inhibition, visual spatial working memory maintenance, and delayed reward discounting and (b) to assess the relationships between these cognitive trajectories and ADHD symptom change. Best-fitting models indicated multiple trajectory classes in both the ADHD and typically developing samples, as well as distinct relationships between each cognitive process and ADHD symptom change. Developmental change in response inhibition and delayed reward discounting were unrelated to ADHD symptom change, while individual differences in the rate of visual spatial working memory maintenance improvement predicted symptom remission in ADHD. Characterizing heterogeneity in cognitive development will be crucial for clarifying mechanisms of symptom persistence and recovery. Results here suggest working memory maintenance may be uniquely related to ADHD symptom improvement. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Computer Based Screening Dyscalculia: Cognitive and Neuropsychological Correlates

ERIC Educational Resources Information Center

Cangoz, Banu; Altun, Arif; Olkun, Sinan; Kacar, Funda

2013-01-01

Mathematical skills are becoming increasingly critical for achieving academic and professional success. Developmental dyscalculia (DD) is a childhood-onset disorder characterized by the presence of abnormalities in the acquisition of arithmetic skills affecting approximately 5% of school age children. Diagnosing students with possible dyscalculia…

Autism Spectrum Disorder Updates - Relevant Information for Early Interventionists to Consider.

PubMed

Allen-Meares, Paula; MacDonald, Megan; McGee, Kristin

2016-01-01

Autism spectrum disorder (ASD) is a pervasive developmental disorder characterized by deficits in social communication skills as well as repetitive, restricted or stereotyped behaviors (1). Early interventionists are often found at the forefront of assessment, evaluation, and early intervention services for children with ASD. The role of an early intervention specialist may include assessing developmental history, providing group and individual counseling, working in partnership with families on home, school, and community environments, mobilizing school and community resources, and assisting in the development of positive early intervention strategies (2, 3). The commonality among these roles resides in the importance of providing up-to-date, relevant information to families and children. The purpose of this review is to provide pertinent up-to-date knowledge for early interventionists to help inform practice in working with individuals with ASD, including common behavioral models of intervention.

Autism Spectrum Disorder Updates – Relevant Information for Early Interventionists to Consider

PubMed Central

Allen-Meares, Paula; MacDonald, Megan; McGee, Kristin

2016-01-01

Autism spectrum disorder (ASD) is a pervasive developmental disorder characterized by deficits in social communication skills as well as repetitive, restricted or stereotyped behaviors (1). Early interventionists are often found at the forefront of assessment, evaluation, and early intervention services for children with ASD. The role of an early intervention specialist may include assessing developmental history, providing group and individual counseling, working in partnership with families on home, school, and community environments, mobilizing school and community resources, and assisting in the development of positive early intervention strategies (2, 3). The commonality among these roles resides in the importance of providing up-to-date, relevant information to families and children. The purpose of this review is to provide pertinent up-to-date knowledge for early interventionists to help inform practice in working with individuals with ASD, including common behavioral models of intervention. PMID:27840812

Using cluster ensemble and validation to identify subtypes of pervasive developmental disorders.

PubMed

Shen, Jess J; Lee, Phil-Hyoun; Holden, Jeanette J A; Shatkay, Hagit

2007-10-11

Pervasive Developmental Disorders (PDD) are neurodevelopmental disorders characterized by impairments in social interaction, communication and behavior. Given the diversity and varying severity of PDD, diagnostic tools attempt to identify homogeneous subtypes within PDD. Identifying subtypes can lead to targeted etiology studies and to effective type-specific intervention. Cluster analysis can suggest coherent subsets in data; however, different methods and assumptions lead to different results. Several previous studies applied clustering to PDD data, varying in number and characteristics of the produced subtypes. Most studies used a relatively small dataset (fewer than 150 subjects), and all applied only a single clustering method. Here we study a relatively large dataset (358 PDD patients), using an ensemble of three clustering methods. The results are evaluated using several validation methods, and consolidated through an integration step. Four clusters are identified, analyzed and compared to subtypes previously defined by the widely used diagnostic tool DSM-IV.

Using Cluster Ensemble and Validation to Identify Subtypes of Pervasive Developmental Disorders

PubMed Central

Shen, Jess J.; Lee, Phil Hyoun; Holden, Jeanette J.A.; Shatkay, Hagit

2007-01-01

Pervasive Developmental Disorders (PDD) are neurodevelopmental disorders characterized by impairments in social interaction, communication and behavior.1 Given the diversity and varying severity of PDD, diagnostic tools attempt to identify homogeneous subtypes within PDD. Identifying subtypes can lead to targeted etiology studies and to effective type-specific intervention. Cluster analysis can suggest coherent subsets in data; however, different methods and assumptions lead to different results. Several previous studies applied clustering to PDD data, varying in number and characteristics of the produced subtypes19. Most studies used a relatively small dataset (fewer than 150 subjects), and all applied only a single clustering method. Here we study a relatively large dataset (358 PDD patients), using an ensemble of three clustering methods. The results are evaluated using several validation methods, and consolidated through an integration step. Four clusters are identified, analyzed and compared to subtypes previously defined by the widely used diagnostic tool DSM-IV.2 PMID:18693920

Regression in autistic spectrum disorders.

PubMed

Stefanatos, Gerry A

2008-12-01

A significant proportion of children diagnosed with Autistic Spectrum Disorder experience a developmental regression characterized by a loss of previously-acquired skills. This may involve a loss of speech or social responsitivity, but often entails both. This paper critically reviews the phenomena of regression in autistic spectrum disorders, highlighting the characteristics of regression, age of onset, temporal course, and long-term outcome. Important considerations for diagnosis are discussed and multiple etiological factors currently hypothesized to underlie the phenomenon are reviewed. It is argued that regressive autistic spectrum disorders can be conceptualized on a spectrum with other regressive disorders that may share common pathophysiological features. The implications of this viewpoint are discussed.

Heterogeneity in development of adolescent anxiety disorder symptoms in an 8-year longitudinal community study.

PubMed

Nelemans, Stefanie A; Hale, William W; Branje, Susan J T; Raaijmakers, Quinten A W; Frijns, Tom; van Lier, Pol A C; Meeus, Wim H J

2014-02-01

In this study, we prospectively examined developmental trajectories of five anxiety disorder symptom dimensions (generalized anxiety disorder, panic disorder, school anxiety, separation anxiety disorder, and social anxiety disorder) from early to late adolescence in a community sample of 239 adolescents, assessed annually over 8 years. Latent growth modeling indicated different developmental trajectories from early into late adolescence for the different anxiety disorder symptoms, with some symptoms decreasing and other symptoms increasing over time. Sex differences in developmental trajectories were found for some symptoms, but not all. Furthermore, latent class growth analysis identified a normal developmental profile (including a majority of adolescents reporting persistent low anxiety disorder symptoms over 8 years) and an at-risk developmental profile (including a minority of adolescents reporting persistent high anxiety disorder symptoms over 8 years) for all of the anxiety disorder symptom dimensions except panic disorder. Additional analyses longitudinally supported the validity of these normal and at-risk developmental profiles and suggested differential associations between different anxiety disorder symptom dimensions and developmental trajectories of substance use, parenting, and identity development. Taken together, our results emphasize the importance of examining separate dimensions of anxiety disorder symptoms in contrast to a using a global, one-dimensional approach to anxiety.

Developmental coordination disorders: state of art.

PubMed

Vaivre-Douret, L

2014-01-01

In the literature, descriptions of children with motor coordination difficulties and clumsy movements have been discussed since the early 1900s. According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV), it is a marked impairment in the development of fine or global motor coordination, affecting 6% of school-age children. All these children are characterized for developmental coordination disorder (DCD) in motor learning and new motor skill acquisition, in contrast to adult apraxia which is a disorder in the execution of already learned movements. No consensus has been established about etiology of DCD. Intragroup approach through factor and cluster analysis highlights that motor impairment in DCD children varies both in severity and nature. Indeed, most studies have used screening measures of performance on some developmental milestones derived from global motor tests. A few studies have investigated different functions together with standardized assessments, such as neuromuscular tone and soft signs, qualitative and quantitative measures related to gross and fine motor coordination and the specific difficulties -academic, language, gnosic, visual motor/visual-perceptual, and attentional/executive- n order to allow a better identification of DCD subtypes with diagnostic criteria and to provide an understanding of the mechanisms and of the cerebral involvement. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Seizure disorders and developmental disorders: impact on life of affected families-a structured interview.

PubMed

Spindler, Ulrike Petra; Hotopp, Lena Charlott; Bach, Vivien Angela; Hornemann, Frauke; Syrbe, Steffen; Andreas, Anna; Merkenschlager, Andreas; Kiess, Wieland; Bernhard, Matthias Karl; Bertsche, Thilo; Neininger, Martina Patrizia; Bertsche, Astrid

2017-08-01

Seizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking to all parents of pediatric outpatients of our university hospital diagnosed with seizure or developmental disorder. Three hundred seven parents (of 317 affected children: 53 with seizure disorder, 44 with specific developmental disorder, 35 with learning disorder, 71 with intellectual disability, 15 with seizure + specific developmental disorder, 23 with seizure + learning disorder, 76 with seizure disorder + intellectual disability) were interviewed. Parents of children with both seizure disorder and intellectual disability stated the highest constraints in daily life, regarding friends, hobbies, emotional pressure, occupation, partnership, habitation, and financial burden. Due to diagnosis of seizure or developmental disorder, 155/307 (51%) parents reduced their working hours/stopped working, 62/307 (20%) changed their habitation, and 46/307 (15%) broke up. As judged by parents, 148/317 (47%) children are being discriminated against, even own family/friends and educators are held responsible. Parents perceive changes in their daily life and discrimination of their children due to their children's seizure and developmental disorders. An intellectual disability combined with seizure disorder caused the highest constraint. What is Known: • Seizure and/or developmental disorders of children may adversely influence quality of life for affected parents. • Caring for a child with special health care needs can take complete attention and own parental needs may therefore be difficult to meet. What is New: • Two out of three parents stated changes of their daily life such as quitting work, change of habitation, or breakup of partnership due to their child's diagnosis. • As judged by the parents, one in two children with developmental disorder of any kind is being discriminated against, even teachers and own family are held responsible.

Understanding Williams Syndrome: Behavioral Patterns and Interventions.

ERIC Educational Resources Information Center

Semel, Eleanor; Rosner, Sue R.

This guide to Williams syndrome (WS), a congenital disorder characterized by developmental/cognitive limitations but relatively high verbal and social skills, explains the strengths, difficulties and variations found among individuals with the condition and offers guidelines for intervention in the unusual properties of the WS behavioral profile.…

Memory Abilities in Williams Syndrome: Dissociation or Developmental Delay Hypothesis?

ERIC Educational Resources Information Center

Sampaio, Adriana; Sousa, Nuno; Fernandez, Montse; Henriques, Margarida; Goncalves, Oscar F.

2008-01-01

Williams syndrome (WS) is a neurodevelopmental genetic disorder often described as being characterized by a dissociative cognitive architecture, in which profound impairments of visuo-spatial cognition contrast with relative preservation of linguistic, face recognition and auditory short-memory abilities. This asymmetric and dissociative cognition…

Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children

USDA-ARS?s Scientific Manuscript database

Aicardi syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, other developmental brain abnormalities, chorioretinal lacunae, and severe seizures. Current clinical knowledge is derived from small series that focus on these major defects. The authors perform...

Developmentally arrested structures preceding cerebellar tumors in von Hippel–Lindau disease

PubMed Central

Shively, Sharon B; Falke, Eric A; Li, Jie; Tran, Maxine G B; Thompson, Eli R; Maxwell, Patrick H; Roessler, Erich; Oldfield, Edward H; Lonser, Russell R; Vortmeyer, Alexander O

2011-01-01

There is increasing evidence that suggests that knockout of tumor-suppressor gene function causes developmental arrest and protraction of cellular differentiation. In the peripheral nervous system of patients with the tumor-suppressor gene disorder, von Hippel–Lindau disease, we have demonstrated developmentally arrested structural elements composed of hemangioblast progenitor cells. Some developmentally arrested structural elements progress to a frank tumor, hemangioblastoma. However, in von Hippel–Lindau disease, hemangioblastomas are frequently observed in the cerebellum, suggesting an origin in the central nervous system. We performed a structural and topographic analysis of cerebellar tissues obtained from von Hippel–Lindau disease patients to identify and characterize developmentally arrested structural elements in the central nervous system. We examined the entire cerebella of five tumor-free von Hippel–Lindau disease patients and of three non-von Hippel–Lindau disease controls. In all, 9 cerebellar developmentally arrested structural elements were detected and topographically mapped in 385 blocks of von Hippel–Lindau disease cerebella. No developmentally arrested structural elements were seen in 214 blocks from control cerebella. Developmentally arrested structural elements are composed of poorly differentiated cells that express hypoxia-inducible factor (HIF)2α, but not HIF1α or brachyury, and preferentially involve the molecular layer of the dorsum cerebelli. For the first time, we identify and characterize developmentally arrested structural elements in the central nervous system of von Hippel–Lindau patients. We provide evidence that developmentally arrested structural elements in the cerebellum are composed of developmentally arrested hemangioblast progenitor cells in the molecular layer of the dorsum cerebelli. PMID:21499240

Learning and Processing Abstract Words and Concepts: Insights From Typical and Atypical Development.

PubMed

Vigliocco, Gabriella; Ponari, Marta; Norbury, Courtenay

2018-05-21

The paper describes two plausible hypotheses concerning the learning of abstract words and concepts. According to a first hypothesis, children would learn abstract words by extracting co-occurrences among words in linguistic input, using, for example, mechanisms as described by models of Distributional Semantics. According to a second hypothesis, children would exploit the fact that abstract words tend to have more emotional associations than concrete words to infer that they refer to internal/mental states. Each hypothesis makes specific predictions with regards to when and which abstract words are more likely to be learned; also they make different predictions concerning the impact of developmental disorders. We start by providing a review of work characterizing how abstract words and concepts are learned in development, especially between the ages of 6 and 12. Second, we review some work from our group that tests the two hypotheses above. This work investigates typically developing (TD) children and children with atypical development (developmental language disorders [DLD] and autism spectrum disorder [ASD] with and without language deficits). We conclude that the use of strategies based on emotional information, or on co-occurrences in language, may play a role at different developmental stages. © 2018 Cognitive Science Society Inc.

The Role of Developmental Histories in the Screening and Diagnosis of Autism Spectrum Disorders.

ERIC Educational Resources Information Center

Plotts, Cindy; Webber, Jo

2002-01-01

This article discusses the importance of obtaining developmental history in the screening and diagnosis of autism spectrum disorders in children. Steps for obtaining developmental history are described and general guidelines are provided. Instruments for collecting developmental history and diagnostic indicators for autism spectrum disorders are…

Spontaneous Belief Attribution in Younger Siblings of Children on the Autism Spectrum

ERIC Educational Resources Information Center

Gliga, Teodora; Senju, Atsushi; Pettinato, Michèle; Charman, Tony; Johnson, Mark H.

2014-01-01

The recent development in the measurements of spontaneous mental state understanding, employing eye-movements instead of verbal responses, has opened new opportunities for understanding the developmental origin of "mind-reading" impairments frequently described in autism spectrum disorders (ASDs). Our main aim was to characterize the…

"Too Withdrawn" or "Too Friendly": Considering Social Vulnerability in Two Neuro-Developmental Disorders

ERIC Educational Resources Information Center

Jawaid, A.; Riby, D. M.; Owens, J.; White, S. W.; Tarar, T.; Schulz, P. E.

2012-01-01

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…

Receptive Vocabulary in Boys with Autism Spectrum Disorder: Cross-Sectional Developmental Trajectories

PubMed Central

McDuffie, Andrea S.; Hagerman, Randi J.; Abbeduto, Leonard

2013-01-01

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

Test Review: Siegel, B. (2004). "Pervasive Developmental Disorder Screening Test--II (PDDST-II)." San Antonio, TX: Harcourt

ERIC Educational Resources Information Center

Montgomery, Janine M.; Duncan, C. Randy; Francis, Garnett C.

2007-01-01

The "Pervasive Developmental Disorder Screening Test-II (PDDST-II)--Early Childhood Screener for Autistic Spectrum Disorders" is a clinical screening tool for pervasive developmental disorders (PDD) or autism spectrum disorders (ASD) designed for use by nonspecialist clinicians. It was designed to differentiate children as young as 18 months who…

Speech Perception and Short-Term Memory Deficits in Persistent Developmental Speech Disorder

ERIC Educational Resources Information Center

Kenney, Mary Kay; Barac-Cikoja, Dragana; Finnegan, Kimberly; Jeffries, Neal; Ludlow, Christy L.

2006-01-01

Children with developmental speech disorders may have additional deficits in speech perception and/or short-term memory. To determine whether these are only transient developmental delays that can accompany the disorder in childhood or persist as part of the speech disorder, adults with a persistent familial speech disorder were tested on speech…

Allostatic load in parents of children with developmental disorders: moderating influence of positive affect.

PubMed

Song, Jieun; Mailick, Marsha R; Ryff, Carol D; Coe, Christopher L; Greenberg, Jan S; Hong, Jinkuk

2014-02-01

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.

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

PubMed

Sadleir, Lynette G; Mountier, Emily I; Gill, Deepak; Davis, Suzanne; Joshi, Charuta; DeVile, Catherine; Kurian, Manju A; Mandelstam, Simone; Wirrell, Elaine; Nickels, Katherine C; Murali, Hema R; Carvill, Gemma; Myers, Candace T; Mefford, Heather C; Scheffer, Ingrid E

2017-09-05

To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent missense SCN1A mutation, p.Thr226Met. The remaining child had the missense mutation p.Pro1345Ser. The mutation arose de novo in 8 of 9; for the remaining case, the mother was negative and the father was unavailable. Here, we present a phenotype-genotype correlation for SCN1A . We describe a distinct SCN1A phenotype, early infantile SCN1A encephalopathy, which is readily distinguishable from the well-recognized entities of Dravet syndrome and genetic epilepsy with febrile seizures plus. This disorder has an earlier age at onset, profound developmental impairment, and a distinctive hyperkinetic movement disorder, setting it apart from Dravet syndrome. Remarkably, 8 of 9 children had the recurrent missense mutation p.Thr226Met. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

Trajectories of social withdrawal and cognitive decline in the schizophrenia prodrome.

PubMed

Cullen, Kathryn; Guimaraes, Angela; Wozniak, Jeffrey; Anjum, Afshan; Schulz, S Charles; White, Tonya

2011-01-01

Schizophrenia is a heterogeneous neurodevelopmental disorder. Patients with high levels of negative symptoms have been identified as a specific subtype, but little is known about how the neurodevelopmental course may differ in this group. This study aimed to characterize developmental trajectories of premorbid social withdrawal and cognitive decline between patients with high versus low levels of negative symptoms in youth with schizophrenia-spectrum disorders. A standardized timeline was used to delineate the emergence of psychosis, social withdrawal, and cognitive decline in 52 subjects aged 8 to 19 with schizophrenia (n=36), schizophreniform (n=6), or schizoaffective disorder (n=10). The sample was divided into subgroups of high- (n=26) versus low- (n=26) negative symptoms, and developmental trajectories of premorbid symptoms were compared between groups. Mean ages for emergence of social withdrawal, cognitive decline, and psychosis were 11.1 years (SD=2.5), 11.9 (SD=4.4) and 13.2 years (SD=1.2), respectively. In the high-negative symptom group, the premorbid developmental trajectory for social withdrawal was more protracted. This group also had more severe cognitive decline at the onset of psychosis, but the premorbid trajectories for cognitive decline did not differ significantly between groups. This work documents a more severe and protracted trajectory of premorbid social withdrawal in patients with high levels of negative symptoms in comparison to those with low-negative symptoms. The findings reported here are supportive of the hypothesis that patients with illness characterized by high levels of negative symptoms may represent a subgroup with distinct neurodevelopmental abnormalities.

Using the preschool language scale, fourth edition to characterize language in preschoolers with autism spectrum disorders.

PubMed

Volden, Joanne; Smith, Isabel M; Szatmari, Peter; Bryson, Susan; Fombonne, Eric; Mirenda, Pat; Roberts, Wendy; Vaillancourt, Tracy; Waddell, Charlotte; Zwaigenbaum, Lonnie; Georgiades, Stelios; Duku, Eric; Thompson, Ann

2011-08-01

The Preschool Language Scale, Fourth Edition (PLS-4; Zimmerman, Steiner, & Pond, 2002) was used to examine syntactic and semantic language skills in preschool children with autism spectrum disorders (ASD) to determine its suitability for use with this population. We expected that PLS-4 performance would be better in more intellectually able children and that receptive skills would be relatively more impaired than expressive abilities, consistent with previous findings in the area of vocabulary. Our sample consisted of 294 newly diagnosed preschool children with ASD. Children were assessed via a battery of developmental measures, including the PLS-4. As expected, PLS-4 scores were higher in more intellectually able children with ASD, and overall, expressive communication was higher than auditory comprehension. However, this overall advantage was not stable across nonverbal developmental levels. Expressive skills were significantly better than receptive skills at the youngest developmental levels, whereas the converse applied in children with more advanced development. The PLS-4 can be used to obtain a general index of early syntax and semantic skill in young children with ASD. Longitudinal data will be necessary to determine how the developmental relationship between receptive and expressive language skills unfolds in children with ASD.

Classifying sensory profiles of children in the general population.

PubMed

Little, L M; Dean, E; Tomchek, S D; Dunn, W

2017-01-01

The aim of this study was to subtype groups of children in a community sample with and without developmental conditions, based on sensory processing patterns. We used latent profile analysis to determine the number of sensory subtypes in a sample of n = 1132 children aged 3-14 years with typical development and developmental conditions, including autism spectrum disorder (ASD), attention-deficit hyperactivity disorder and learning disabilities. A five-subtype solution was found to best characterize the sample, which differed on overall degree and differential presentation of sensory processing patterns. Children with and without developmental conditions presented across subtypes, and one subtype was significantly younger in age than others (P < 0.05). Our results show that sensory subtypes include both children with typical development and those with developmental conditions. Sensory subtypes have previously been investigated in ASD only, and our results suggest that similar sensory subtypes are present in a sample reflective of the general population of children including those largely with typical development. Elevated scores on sensory processing patterns are not unique to ASD but rather are reflections of children's abilities to respond to environmental demands. © 2016 John Wiley & Sons Ltd.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.

PubMed

Hytönen, Marjo K; Arumilli, Meharji; Lappalainen, Anu K; Owczarek-Lipska, Marta; Jagannathan, Vidhya; Hundi, Sruthi; Salmela, Elina; Venta, Patrick; Sarkiala, Eva; Jokinen, Tarja; Gorgas, Daniela; Kere, Juha; Nieminen, Pekka; Drögemüller, Cord; Lohi, Hannes

2016-05-01

One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions.

Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes

PubMed Central

Hytönen, Marjo K.; Arumilli, Meharji; Lappalainen, Anu K.; Owczarek-Lipska, Marta; Jagannathan, Vidhya; Hundi, Sruthi; Salmela, Elina; Venta, Patrick; Sarkiala, Eva; Jokinen, Tarja; Gorgas, Daniela; Kere, Juha; Nieminen, Pekka

2016-01-01

One to two percent of all children are born with a developmental disorder requiring pediatric hospital admissions. For many such syndromes, the molecular pathogenesis remains poorly characterized. Parallel developmental disorders in other species could provide complementary models for human rare diseases by uncovering new candidate genes, improving the understanding of the molecular mechanisms and opening possibilities for therapeutic trials. We performed various experiments, e.g. combined genome-wide association and next generation sequencing, to investigate the clinico-pathological features and genetic causes of three developmental syndromes in dogs, including craniomandibular osteopathy (CMO), a previously undescribed skeletal syndrome, and dental hypomineralization, for which we identified pathogenic variants in the canine SLC37A2 (truncating splicing enhancer variant), SCARF2 (truncating 2-bp deletion) and FAM20C (missense variant) genes, respectively. CMO is a clinical equivalent to an infantile cortical hyperostosis (Caffey disease), for which SLC37A2 is a new candidate gene. SLC37A2 is a poorly characterized member of a glucose-phosphate transporter family without previous disease associations. It is expressed in many tissues, including cells of the macrophage lineage, e.g. osteoclasts, and suggests a disease mechanism, in which an impaired glucose homeostasis in osteoclasts compromises their function in the developing bone, leading to hyperostosis. Mutations in SCARF2 and FAM20C have been associated with the human van den Ende-Gupta and Raine syndromes that include numerous features similar to the affected dogs. Given the growing interest in the molecular characterization and treatment of human rare diseases, our study presents three novel physiologically relevant models for further research and therapy approaches, while providing the molecular identity for the canine conditions. PMID:27187611

Withdrawal Study of Memantine in Pediatric Patients With Autism, Asperger's Disorder, or Pervasive Developmental Disorder Not Otherwise Specified Previously Treated With Memantine

ClinicalTrials.gov

2013-10-31

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

Developmental Specificity in Targeting and Teaching Play Activities to Children with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Lifter, Karin; Ellis, James; Cannon, Barbara; Anderson, Stephen R.

2005-01-01

Developmentally specific play programs were designed for three children with pervasive developmental disorders being served in a home-based program. Using the Developmental Play Assessment, six activities for each of three adjacent developmentally sequenced play categories were targeted for direct instruction using different toy sets. A modified…

Extraction and Refinement Strategy for detection of autism in 18-month-olds: a guarantee of higher sensitivity and specificity in the process of mass screening.

PubMed

Honda, Hideo; Shimizu, Yasuo; Nitto, Yukari; Imai, Miho; Ozawa, Takeshi; Iwasa, Mitsuaki; Shiga, Keiko; Hira, Tomoko

2009-08-01

For early detection of autism, it is difficult to maintain an efficient level of sensitivity and specificity based on observational data from a single screening. The Extraction and Refinement (E&R) Strategy utilizes a public children's health surveillance program to produce maximum efficacy in early detection of autism. In the extraction stage, all cases at risk of childhood problems, including developmental abnormality, are identified; in the refinement stage, cases without problems are excluded, leaving only cases with conclusive diagnoses. The city of Yokohama, Japan, conducts a routine child health surveillance program for children at 18 months in which specialized public health nurses administer YACHT-18 (Young Autism and other developmental disorders CHeckup Tool), a screening instrument to identify children at risk for developmental disorders. Children who screen positive undergo further observation, and those without disorders are subsequently excluded. To study the efficacy of early detection procedures for developmental disorders, including autism, 2,814 children born in 1988, examined at 18 months of age, and not already receiving treatment for diseases or disorders were selected. In the extraction stage, 402 (14.3%) children were identified for follow-up. In the refinement stage, 19 (.7%) of these were referred to the Yokohama Rehabilitation Center and diagnosed with developmental disorders. The extraction stage produced four false negatives, bringing total diagnoses of developmental disorders to 23 (.8%) - including 5 with autistic disorder and 9 with pervasive developmental disorder - not otherwise specified (PDDNOS). Sensitivity was 60% for autistic disorder and 82.6% for developmental disorders. Specificity for developmental disorders rose to 100% with the E&R Strategy. Picture cards used in YACHT-18 provided a finer screen that excluded some false positive cases. An extraction and refinement methodology utilizing child health surveillance programs achieve high efficacy for early detection of autism.

Patterns and Trajectories in Williams Syndrome: The Case of Visual Orientation Discrimination

ERIC Educational Resources Information Center

Palomares, Melanie; Englund, Julia A.; Ahlers, Stephanie

2011-01-01

Williams Syndrome (WS) is a developmental disorder typified by deficits in visuospatial cognition. To understand the nature of this deficit, we characterized how people with WS perceive visual orientation, a fundamental ability related to object identification. We compared WS participants to typically developing children (3-6 years of age) and…

Executive Functions in Intellectual Disabilities: A Comparison between Williams Syndrome and Down Syndrome

ERIC Educational Resources Information Center

Costanzo, Floriana; Varuzza, Cristiana; Menghini, Deny; Addona, Francesca; Gianesini, Tiziana; Vicari, Stefano

2013-01-01

Executive functions are a set of high cognitive abilities that control and regulate other functions and behaviors and are crucial for successful adaptation. Deficits in executive functions are frequently described in developmental disorders, which are characterized by disadaptive behavior. However, executive functions are not widely examined in…

Musicality Correlates with Sociability and Emotionality in Williams Syndrome

ERIC Educational Resources Information Center

Ng, Rowena; Lai, Philip; Levitin, Daniel J.; Bellugi, Ursula

2013-01-01

Williams syndrome (WS) is a neurogenetic developmental disorder characterized by peaks and valleys of cognitive abilities. One peak that has been understudied is the affinity that many individuals with WS have with music. It remains unknown whether their high levels of musical interest, skill, and expressivity are related to their sociable…

Intervention for Individuals with Fetal Alcohol Spectrum Disorders: Treatment Approaches and Case Management

ERIC Educational Resources Information Center

Paley, Blair; O'Connor, Mary J.

2009-01-01

Exposure to alcohol in utero is considered to be the leading cause of developmental disabilities of known etiology. The most severe consequence of such exposure, fetal alcohol syndrome (FAS), is characterized by a distinct constellation of characteristic facial anomalies, growth retardation, and central nervous system (CNS) dysfunction. Some…

Control Networks in Paediatric Tourette Syndrome Show Immature and Anomalous Patterns of Functional Connectivity

ERIC Educational Resources Information Center

Church, Jessica A.; Fair, Damien A.; Dosenbach, Nico U. F.; Cohen, Alexander L.; Miezin, Francis M.; Petersen, Steven E.; Schlaggar, Bradley L.

2009-01-01

Tourette syndrome (TS) is a developmental disorder characterized by unwanted, repetitive behaviours that manifest as stereotyped movements and vocalizations called "tics". Operating under the hypothesis that the brain's control systems may be impaired in TS, we measured resting-state functional connectivity MRI (rs-fcMRI) between 39 previously…

Brief Report: Should Asperger Syndrome Be Excluded from the Forthcoming DSM-V?

ERIC Educational Resources Information Center

Kaland, Nils

2011-01-01

Asperger syndrome (AS) is a "pervasive developmental disorder," characterized by social impairments and focused, circumscribed interests and activities in the absence of significant language impairment and cognitive delay. Since its inclusion in the DSM-IV, there has been a dramatic increase in its recognition both in children and adults. Some…

Brief Report: Should the DSM V Drop Asperger Syndrome?

ERIC Educational Resources Information Center

Ghaziuddin, Mohammad

2010-01-01

The DSM IV defines Asperger syndrome (AS) as a pervasive developmental (autistic spectrum) disorder characterized by social deficits and rigid focused interests in the absence of language impairment and cognitive delay. Since its inclusion in the DSM-IV, there has been a dramatic increase in its recognition both in children and adults. However,…

The Development and Standardization of the Adult Developmental Co-Ordination Disorders/Dyspraxia Checklist (ADC)

ERIC Educational Resources Information Center

Kirby, Amanda; Edwards, Lisa; Sugden, David; Rosenblum, Sara

2010-01-01

Developmental Co-ordination Disorder (DCD), also known as Dyspraxia in the United Kingdom (U.K.), is a developmental disorder affecting motor co-ordination. In the past this was regarded as a childhood disorder, however there is increasing evidence that a significant number of children will continue to have persistent difficulties into adulthood.…

Comparison of developmental/intellectual changes between autistic disorder and pervasive developmental disorder not otherwise specified in preschool years.

PubMed

Takeda, Toshinobu; Koyama, Tomonori; Kurita, Hiroshi

2007-12-01

This study is the first to compare the change in developmental quotient (DQ) or IQ between autistic disorder (AD) and pervasive developmental disorder not otherwise specified (PDDNOS) in preschool years. Forty-nine AD children and 77 PDDNOS children were evaluated at age 2 and at age > or =5. The AD children were significantly lower in DQ/IQ at initial evaluation and outcome evaluation (also with initial DQ being controlled for) than the PDDNOS children.

Pervasive Developmental Disorders: Distinguishing among Subtypes.

ERIC Educational Resources Information Center

Harris, Sandra L.; Glasberg, Beth; Ricca, Donna

1996-01-01

Describes pervasive developmental disorders (PPDs), which are severe conditions that begin in early life and influence multiple areas of development. Conditions include autistic disorders, Asperger's disorder, Rett's disorder, childhood disintegrative disorder, and PPDs "not otherwise specified." Intensive behavioral intervention at an early age…

Pathogenesis of autism: a patchwork of genetic causes

PubMed Central

Grigorenko, Elena L

2009-01-01

Autism spectrum disorders (ASDs) are relatively infrequent but are devastating developmental conditions characterized by marked deficiencies in social, communicative and other behavioral domains. It has been known for a substantial period of time that these disorders are genetic in nature. However, elucidating the specific mechanisms of these disorders has been difficult. A major reason for such difficulty is the recognized genetic heterogeneity of ASDs. Specifically, many genetic mechanisms related to structural variations in the genome have been reported as possible genetic causes of these disorders. This review briefly exemplifies these genetic mechanisms, presents a concise overview of the evidence for the genetic basis of ASDs and provides an appraisal of the specific structural genetic variants thought to contribute to the pathogenesis of these complex disorders. PMID:19953194

Prevalence of Attention Deficit Hyperactivity Disorder among School Children and Associated Co-morbidities - A Hospital Based Descriptive Study.

PubMed

Rimal, H; Pokharel, A

Attention Deficit Hyperactivity Disorder is the most common neuro- developmental disorders of childhood characterized by the core symptoms including inattentiveness and distractibility and frequently involve impairments in executive functioning, increased impulsivity, and restlessness. Objective To find out the prevalence of Attention Deficit Hyperactivity Disorder among school aged children Presented to Pediatric clinic and also to investigate associated comorbidities. Method This study was conducted at Nobel Medical College Teaching Hospital, Biratnagar during April 2014 - March 2015. Attention Deficit Hyperactivity Disorder was diagnosed by the developmental Pediatrician after taking relevant history and the clinical assessment using Attention Deficit Hyperactivity Disorder rating scale with diagnostic criteria consistent with Diagnostic Statistical Manual - IV classification. Spence anxiety scale child and parent rated version and Strength and Difficulty Questionnaire were also used. Result Result showed the yearly prevalence of Attention Deficit Hyperactivity Disorder being 41(11.7%) with male: female ratio of 4:1. The study reported that Attention Deficit Hyperactivity Disorder combined type was the commonest type that was 26(63%) cases followed by Inattentive type 9(22%) cases and 6(15%) were hyperactive type. The mean age for Attention Deficit Hyperactivity Disorder was 7 years and 5 months. The most common co-morbidities were sleep problem 12(29.3%), Learning difficulty 10(24.4%), Anxiety disorder 10(24.4), Oppositional Defiant Disorder 9(22%), Autism Spectrum Disorder 5(12%), speech delay 6(14.6%), and 4(10%) had associated tics. There was abnormal SDQ prevalence of 29.3% across the area of emotional distress. The mean abnormal SDQ score in total difficulty area 8 (20.7%), socializing with peer 9(22%), behavioral difficulty 11(26.8%), hyperactivity/inattention 23(56.1%) and impact of difficulties in young person's life being 5(12.2%). Conclusion There is high prevalence of Attention Deficit Hyperactivity Disorder in children and adolescents in Nepal. This study has also looked at co-morbidities associated with Attention Deficit Hyperactivity Disorder and the findings of the study have thrown lights on the mental health and other developmental issues associated with it.

Working Memory in Children with Developmental Disorders

ERIC Educational Resources Information Center

Alloway, Tracy Packiam; Rajendran, Gnanathusharan; Archibald, Lisa M. D.

2009-01-01

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…

Sleep Problems and Early Developmental Delay: Implications for Early Intervention Programs

ERIC Educational Resources Information Center

Bonuck, Karen; Grant, Roy

2012-01-01

Sleep disorders negatively impact behavior, cognition, and growth--the same areas targeted by early intervention. Conversely, developmental delays and disabilities may themselves precipitate sleep disorders. Young children with developmental delays experience sleep disorders at a higher rate than do typically developing children; the most common…

What Kinds of Things Cause Children's Reading Difficulties?

ERIC Educational Resources Information Center

Coltheart, Max

2015-01-01

The first part of this paper explains the distinction between proximal and distal causes of developmental disorders of cognition, with special reference to developmental disorders of reading. A number of different proximal causes of developmental disorders of reading have been identified. These correspond to a number of different patterns of…

Interpersonal Stress Regulation and the Development of Anxiety Disorders: An Attachment-Based Developmental Framework

PubMed Central

Nolte, Tobias; Guiney, Jo; Fonagy, Peter; Mayes, Linda C.; Luyten, Patrick

2011-01-01

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:21960962

Zebrafish models for the functional genomics of neurogenetic disorders.

PubMed

Kabashi, Edor; Brustein, Edna; Champagne, Nathalie; Drapeau, Pierre

2011-03-01

In this review, we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular, neural degeneration can be characterized at genetic, cellular, functional, and behavioral levels. Zebrafish have been used to knock down or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia, and Alzheimer's disease. More recently, we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia, and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus, zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics. This article is part of a Special Issue entitled Zebrafish Models of Neurological Diseases. Copyright © 2010 Elsevier B.V. All rights reserved.

The Root Cause of Post-traumatic and Developmental Stress Disorder

DTIC Science & Technology

2013-03-01

Post - traumatic and Developmental Stress Disorder PRINCIPAL INVESTIGATOR: Keith A...28 Feb 2013 4. TITLE AND SUBTITLE The Root Cause of Post - traumatic and Developmental Stress Disorder 5a. CONTRACT NUMBER W81XWH-­‐07-­‐1-­‐0244...goal of Project 1 is to describe the progression of post -deployment stress disorders ( PTSD , major depression, suicidality) in active duty troops

Manifestations, Treatment Implications and Speech-Language Consideration in Gorlin Syndrome: A Case Study.

ERIC Educational Resources Information Center

Andrews, Alice E.; Stonestreet, Ruth H.

This paper presents a case study of Gorlin Syndrome, also known as Basal Cell Nevus Syndrome, a rare genetic disorder characterized by widespread developmental defects. Criteria for diagnosis are listed, noting the presence of frequent basal cell carcinomas at a relatively young age and multiple cysts of the jaw. Speech and/or language impairments…

Assessment and Treatment of Stereotypic Behavior in Children with Autism and Other Developmental Disabilities: A Thirty Year Review

ERIC Educational Resources Information Center

Reed, Florence D. DiGennaro; Hirst, Jason M.; Hyman, Sarah R.

2012-01-01

A defining feature of children with autism includes stereotypy, characterized as restrictive and repetitive vocal and motor behavior. The current literature review seeks to (a) determine the number of empirical studies using behavioral interventions to treat stereotypy exhibited by children with autism or other pervasive development disorder, (b)…

Sensory Processing Disorder in a Primate Model: Evidence from a Longitudinal Study of Prenatal Alcohol and Prenatal Stress Effects

ERIC Educational Resources Information Center

Schneider, Mary L.; Moore, Colleen F.; Gajewski, Lisa L.; Larson, Julie A.; Roberts, Andrew D.; Converse, Alexander K.; DeJesus, Onofre T.

2008-01-01

Disrupted sensory processing, characterized by over- or underresponsiveness to environmental stimuli, has been reported in children with a variety of developmental disabilities. This study examined the effects of prenatal stress and moderate-level prenatal alcohol exposure on tactile sensitivity and its relationship to striatal dopamine system…

The Use of Music to Improve Social Skills Development in Children Diagnosed with Autism

ERIC Educational Resources Information Center

Jemison Pollard, Dianne

2010-01-01

Autism is defined as a neuro-developmental disorder and is characterized by a chronic and severe impairment in social relations. Children with autism have limited development in both verbal language and non-verbal language, relative to eye contact, gestures, facial expression, and body language. The cause of autism is not known; however, genetic…

Toddlers with Williams Syndrome Process Upright but Not Inverted Faces Holistically

ERIC Educational Resources Information Center

Cashon, Cara H.; Ha, Oh-Ryeong; DeNicola, Christopher A.; Mervis, Carolyn B.

2013-01-01

Holistic processing of upright, but not inverted, faces is a marker of perceptual expertise for faces. This pattern is shown by typically developing individuals beginning at age 7 months. Williams syndrome (WS) is a rare neurogenetic developmental disorder characterized by extreme interest in faces from a very young age. Research on the effects of…

Annual Research Review: Understudied Populations within the Autism Spectrum--Current Trends and Future Directions in Neuroimaging Research

ERIC Educational Resources Information Center

Jack, Allison; Pelphrey, Kevin A.

2017-01-01

Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental conditions that vary in both etiology and phenotypic expression. Expressions of ASD characterized by a more severe phenotype, including autism with intellectual disability (ASD + ID), autism with a history of developmental regression (ASD + R), and minimally verbal…

Trends in Autism Spectrum Disorder Diagnoses: 1994-2007

ERIC Educational Resources Information Center

Rosenberg, Rebecca E.; Daniels, Amy M.; Law, J. Kiely; Law, Paul A.; Kaufmann, Walter E.

2009-01-01

We analyzed predictors of parent-reported initial diagnosis (autistic disorder [AD], pervasive developmental disorder-not otherwise specified [PDD-NOS], pervasive developmental disorder ["PDD"] and autism spectrum disorder ["ASD"], and Asperger syndrome [AS]), among 6,176 individuals with autism spectrum disorders diagnosed from 1994 through 2007.…

Genetic Advances in Autism: Heterogeneity and Convergence on Shared Pathways

PubMed Central

Bill, Brent R.; Geschwind, Daniel H.

2009-01-01

The autism spectrum disorders (ASD) are a heterogeneous set of developmental disorders characterized at their core by deficits in social interaction and communication. Current psychiatric nosology groups this broad set of disorders with strong genetic liability and multiple etiologies into the same diagnostic category. This heterogeneity has challenged genetic analyses. But shared patient resources, genomic technologies, more refined phenotypes, and novel computational approaches have begun to yield dividends in defining the genetic mechanisms at work. Over the last five years, a large number of autism susceptibility loci have emerged, redefining our notion of autism’s etiologies, and reframing how we think about ASD. PMID:19477629

Autism Spectrum Disorders (Pervasive Developmental Disorders)

ERIC Educational Resources Information Center

Strock, Margaret

2007-01-01

This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…

Prevalence of Gastrointestinal Disorders in Adult Clients with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Galli-Carminati, G.; Chauvet, I.; Deriaz, N.

2006-01-01

Background: In clients with pervasive developmental disorders (PDD), some authors have noticed the presence of gastrointestinal disorders and behavioural disorders. An augmented prevalence of different histological anomalies has also been reported. The aim of our study is to highlight the prevalence of gastrointestinal disorders in this adult with…

Peer Problems Mediate the Relationship between Developmental Coordination Disorder and Behavioral Problems in School-Aged Children

ERIC Educational Resources Information Center

Wagner, Matthias Oliver; Bos, Klaus; Jascenoka, Julia; Jekauc, Darko; Petermann, Franz

2012-01-01

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…

Achondroplasia and Macular Coloboma.

PubMed

Ahoor, M H; Amizadeh, Y; Sorkhabi, R

2015-01-01

Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia.

Achondroplasia and Macular Coloboma

PubMed Central

Ahoor, M. H.; Amizadeh, Y.; Sorkhabi, R.

2015-01-01

Achondroplasia is an autosomal dominant congenital disorder of enchondral ossification. It is clinically characterized by low stature, craniofacial deformity, and vertebral malformation. Associated ophthalmic features include telecanthus, exotropia, angle anomalies, and cone-rod dystrophy. A 24-year-old male presented with decreased vision bilaterally and typical achondroplasia. The best corrected visual acuity was 20/70 in both eyes. Anterior segment examination was normal. Fundus examination revealed a well-demarcated circular paramacular lesion in both eyes. As macular coloboma and achondroplasia are developmental disorders, the funduscopic examination is required in patients with achondroplasia. PMID:26692730

[Pragmatics in autism spectrum disorder: recent developments].

PubMed

Kissine, Mikhail; Clin, Elise; de Villiers, Jessica

2016-10-01

Autism spectrum disorder (ASD) is characterized by primary pragmatic difficulties, out of step with verbal and non-verbal developmental level. This selective survey paper addresses three recent domains of research on pragmatic functions in autism. First, we provide an up-to-date discussion of how lack of sensitivity to social cues impacts early acquisition of words. Second, we review recent findings on the comprehension of non-literal language, pointing to a more refined clinical reality. Third, we describe recent developments in the study of conversation skills in autism. © 2016 médecine/sciences – Inserm.

Developmental Milestones in Toddlers with Atypical Development

ERIC Educational Resources Information Center

Horovitz, Max; Matson, Johnny L.

2011-01-01

The attainment of developmental milestones was examined and compared in 162 infants and toddlers with developmental disabilities, including Down Syndrome (n = 26), Cerebral Palsy (n = 19), Global Developmental Delay (n = 22), Premature birth (n = 66), and Seizure Disorder (n = 29). Toddlers in the Seizures Disorder group began crawling at a…

[Family characteristics, organic risk factors, psychopathological picture and premorbid adjustment of hospitalized adolescent patients].

PubMed

Małkiewicz-Borkowska, M; Namysłowska, I; Siewierska, A; Puzyńska, E; Sredniawa, H; Zechowski, C; Iwanek, A; Ruszkowska, E

1996-01-01

The relation of some family characteristics such as cohesion and adaptability with organic risk factors, developmental psychopathology, clinical picture and premorbid adjustment was assessed in the group of 100 hospitalized adolescent patients and families. We found correlation between: some of organic risk factors (pathology of neonatal period, pathology of early childhood), some of indicators of developmental psychopathology (eating disorders, conduct disorders), some of clinical signs (mannerism, grandiosity, hostility, suspciousness, disturbances of content of thinking), premorbid adjustment, and variables related to families, described before. We think that biological variables characterizing child (pathology of neonatal period, pathology of early childhood) have an influence on some family characteristics as independent variable. General system theory and circular thinking support these conclusions. In order to verify them, it is necessary to undertake further investigations, based on other methodology, using this results as preliminary findings.

The savant syndrome and autistic disorder.

PubMed

Treffert, D A

1999-12-01

Savant syndrome, characterized by remarkable islands of mental ability in otherwise mentally handicapped persons, may occur in autistic as well as nonautistic individuals. Overall, approximately 10% of autistic persons exhibit savant abilities; roughly 50% of those with savant syndrome have autism, and the remaining 50% have other forms of developmental disability. Most commonly, savant syndrome takes the form of extraordinary musical abilities, but may also include calendar-calculation, artistic, mathematical, spatial, mechanical, and memory skills. While savant syndrome was first described more than a century ago, only recently have researchers begun to employ a more uniform nomenclature and more standardized testing in an effort to compare the abilities of savants with those of normal persons. Males show signs of savant syndrome approximately four times more often than females. Along with imaging study findings, this fact suggests the presence of a developmental disorder involving left-brain damage with right-brain compensation.

Impairments in the Face-Processing Network in Developmental Prosopagnosia and Semantic Dementia

PubMed Central

Mendez, Mario F.; Ringman, John M.; Shapira, Jill S.

2015-01-01

Background Developmental prosopagnosia (DP) and semantic dementia (SD) may be the two most common neurologic disorders of face processing, but their main clinical and pathophysiologic differences have not been established. To identify those features, we compared patients with DP and SD. Methods Five patients with DP, five with right temporal-predominant SD, and ten normal controls underwent cognitive, visual perceptual, and face-processing tasks. Results Although the patients with SD were more cognitively impaired than those with DP, the two groups did not differ statistically on the visual perceptual tests. On the face-processing tasks, the DP group had difficulty with configural analysis and they reported relying on serial, feature-by-feature analysis or awareness of salient features to recognize faces. By contrast, the SD group had problems with person knowledge and made semantically related errors. The SD group had better face familiarity scores, suggesting a potentially useful clinical test for distinguishing SD from DP. Conclusions These two disorders of face processing represent clinically distinguishable disturbances along a right hemisphere face-processing network: DP, characterized by early configural agnosia for faces, and SD, characterized primarily by a multimodal person knowledge disorder. We discuss these preliminary findings in the context of the current literature on the face-processing network; recent studies suggest an additional right anterior temporal, unimodal face familiarity-memory deficit consistent with an “associative prosopagnosia.” PMID:26705265

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

PubMed

Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana

2017-02-02

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10 -14 ). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1. Copyright © 2017 American Society of Human Genetics. All rights reserved.

Diagnosis of Attention-Deficit/Hyperactivity Disorder and Its Behavioral, Neurological, and Genetic Roots

ERIC Educational Resources Information Center

Mueller, Kathryn L.; Tomblin, J. Bruce

2012-01-01

Attention-deficit/hyperactivity disorder (ADHD) is a common developmental disorder often associated with other developmental disorders including speech, language, and reading disorders. Here, we review the principal features of ADHD and current diagnostic standards for the disorder. We outline the ADHD subtypes, which are based upon the dimensions…

Pervasive Developmental Disorders: PDD-NOS, Asperger's Disorder and Autism. Parent Information Booklet.

ERIC Educational Resources Information Center

Levine, Karen

This information booklet is designed for parents who have a child who has been diagnosed with Pervasive Developmental Disorder (PDD) or Asperger's Disorder. It provides information on: (1) the definition of PDD; (2) the five subtypes of PDD, including PDD "not otherwise specified," Asperger's disorder, autistic disorder, childhood…

Dyslexia and Developmental Co-Ordination Disorder in Further and Higher Education--Similarities and Differences. Does the "Label" Influence the Support Given?

ERIC Educational Resources Information Center

Kirby, Amanda; Sugden, David; Beveridge, Sally; Edwards, Lisa; Edwards, Rachel

2008-01-01

Developmental co-ordination disorder (DCD) is a developmental disorder affecting motor co-ordination. The "Diagnostics Statistics Manual"--IV classification for DCD describes difficulties across a range of activities of daily living, impacting on everyday skills and academic performance in school. Recent evidence has shown that…

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

PubMed

Faundes, Víctor; Newman, William G; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J; Demos, Michelle K; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J; Rankin, Julia; Robertson, Lisa; Temple, I Karen; Banka, Siddharth

2018-01-04

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs. We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. Additionally, we describe a recessive histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly. Collectively, these results emphasize the significance of histone lysine methylation in normal human development and the importance of this process in human developmental disorders. Our results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Autism Spectrum Disorder and Young Children. AECA Research in Practice Series.

ERIC Educational Resources Information Center

Roe, Diana

This booklet provides an overview of the characteristics and needs of young children with autism spectrum disorders or pervasive developmental disorders. It addresses: (1) different disabilities under the classification of autism spectrum disorders or pervasive developmental disorders; (2) characteristics of autism; (3) characteristics of children…

Profiling Early Socio-Communicative Development in Five Young Girls with the Preserved Speech Variant of Rett Syndrome

ERIC Educational Resources Information Center

Marschik, Peter B.; Kaufmann, Walter E.; Einspieler, Christa; Bartl-Pokorny, Katrin D.; Wolin, Thomas; Pini, Giorgio; Budimirovic, Dejan B.; Zappella, Michele; Sigafoos, Jeff

2012-01-01

Rett syndrome (RTT) is a developmental disorder characterized by regression of purposeful hand skills and spoken language, although some affected children retain some ability to speech. We assessed the communicative abilities of five young girls, who were later diagnosed with the preserved speech variant of RTT, during the pre-regression period…

Effect of Musical Experience on Verbal Memory in Williams Syndrome: Evidence from a Novel Word Learning Task

ERIC Educational Resources Information Center

Martens, Marilee A.; Jungers, Melissa K.; Steele, Anita L.

2011-01-01

Williams syndrome (WS) is a neurogenetic developmental disorder characterized by an increased affinity for music, deficits in verbal memory, and atypical brain development. Music has been shown to improve verbal memory in typical individuals as well as those with learning difficulties, but no studies have examined this relationship in WS. The aim…

Teaching Students with Asperger Syndrome (and Other Disabilities) in the College Classroom: Creating an Inclusive Learning Environment

ERIC Educational Resources Information Center

Langford-Von Glahn, Sara J.; Zakrajsek, Todd; Pletcher-Rood, Susie

2008-01-01

Asperger Syndrome (AS) is a developmental disorder characterized by poor social skills and restricted interests, but also by extensive knowledge in specific areas and an extensive vocabulary, thereby giving college students with AS specific abilities that are desirable in academe. In fact, young individuals with AS are often referred to as "little…

Self-Reported Pleasantness Ratings and Examiner-Coded Defensiveness in Response to Touch in Children with ASD: Effects of Stimulus Material and Bodily Location

ERIC Educational Resources Information Center

Cascio, Carissa J.; Lorenzi, Jill; Baranek, Grace T.

2016-01-01

Tactile defensiveness, characterized by behavioral hyperresponsiveness and negative emotional responses to touch, is a common manifestation of aberrant sensory processing in autism spectrum disorders (ASD) and other developmental disabilities (DD). Variations in tactile defensiveness with the properties of the stimulus and the bodily site of…

Aquatic Therapy for a Child with Type III Spinal Muscular Atrophy: A Case Report

ERIC Educational Resources Information Center

Salem, Yasser; Gropack, Stacy Jaffee

2010-01-01

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons. This case report describes an aquatic therapy program and the outcomes for a 3-year-old girl with type III SMA. Motor skills were examined using the 88-item Gross Motor Function Measure (GMFM), the Peabody Developmental Motor Scales…

Transgenic Mice Expressing a Truncated Form of CREB-Binding Protein (CBP) Exhibit Deficits in Hippocampal Synaptic Plasticity and Memory Storage

ERIC Educational Resources Information Center

Wood, Marcelo A.; Kaplan, Michael P.; Park, Alice; Blanchard, Edward J.; Oliveira, Ana M. M.; Lombardi, Thomas L.; Abel, Ted

2005-01-01

Deletions, translocations, or point mutations in the CREB-binding protein (CBP) gene have been associated with Rubinstein-Taybi Syndrome; a human developmental disorder characterized by retarded growth and reduced mental function. To examine the role of CBP in memory, transgenic mice were generated in which the CaMKII[alpha] promoter drives…

Lifespan Changes in Working Memory in Fragile X Premutation Males

ERIC Educational Resources Information Center

Cornish, Kim M.; Kogan, Cary S.; Li, Lexin; Turk, Jeremy; Jacquemont, Sebastien; Hagerman, Randi J.

2009-01-01

Fragile X syndrome is the world's most common hereditary cause of developmental delay in males and is now well characterized at the biological, brain and cognitive levels. The disorder is caused by the silencing of a single gene on the X chromosome, the "FMR1" gene. The premutation (carrier) status, however, is less well documented but has an…

The first 1000 days of the autistic brain: a systematic review of diffusion imaging studies.

PubMed

Conti, Eugenia; Calderoni, Sara; Marchi, Viviana; Muratori, Filippo; Cioni, Giovanni; Guzzetta, Andrea

2015-01-01

There is overwhelming evidence that autism spectrum disorder (ASD) is related to altered brain connectivity. While these alterations are starting to be well characterized in subjects where the clinical picture is fully expressed, less is known on their earlier developmental course. In the present study we systematically reviewed current knowledge on structural connectivity in ASD infants and toddlers. We searched PubMed and Medline databases for all English language papers, published from year 2000, exploring structural connectivity in populations of infants and toddlers whose mean age was below 30 months. Of the 264 papers extracted, four were found to be eligible and were reviewed. Three of the four selected studies reported higher fractional anisotropy values in subjects with ASD compared to controls within commissural fibers, projections fibers, and association fibers, suggesting brain hyper-connectivity in the earliest phases of the disorder. Similar conclusions emerged from the other diffusion parameters assessed. These findings are reversed to what is generally found in studies exploring older patient groups and suggest a developmental course characterized by a shift toward hypo-connectivity starting at a time between two and four years of age.

Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same?

PubMed

Al-Gazali, L I; Sztriha, L; Skaff, F; Haas, D

2001-07-01

Gerodermia osteodysplastica (GO) is a connective tissue disorder characterized by premature aging, wrinkled, and lax skin with reduced elasticity which is more marked on the dorsum of the hands and feet associated with hyperextensible joints and osteoporosis. The wrinkly skin syndrome (WSS) is characterized by wrinkled skin over the dorsum of the hands, feet, and abdomen; hyperextensible joints, particularly of the hands; intrauterine growth retardation; postnatal failure to thrive; and mental and developmental delay. We report on five children from two consanguineous Arab families with features overlapping both GO and WSS. All five children had similar dysmorphic facial features consisting of broad and prominent forehead, hypotelorism with epicanthal folds, prominent bulbous nose, flat malar region, and large protruding ears. All had wrinkling of the skin more marked on the dorsum of the hands, feet, and abdomen; hyperextensibility of the joints, particularly of the hands; and aged appearance. Intrauterine growth retardation, subsequent failure to thrive, developmental delay, and variable degree of osteoporosis was also present in all of them. The older three children developed progressive prognathism. We suggest that GO and WSS could represent variable manifestation of the same disorder. Copyright 2001 Wiley-Liss, Inc.

Developmental disorders: what can be learned from cognitive neuropsychology?

PubMed

Castles, Anne; Kohnen, Saskia; Nickels, Lyndsey; Brock, Jon

2014-01-01

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.

Developmental disorders: what can be learned from cognitive neuropsychology?

PubMed Central

Castles, Anne; Kohnen, Saskia; Nickels, Lyndsey; Brock, Jon

2014-01-01

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. PMID:24324246

Multivariate analyses applied to fetal, neonatal and pediatric MRI of neurodevelopmental disorders

PubMed Central

Levman, Jacob; Takahashi, Emi

2015-01-01

Multivariate analysis (MVA) is a class of statistical and pattern recognition methods that involve the processing of data that contains multiple measurements per sample. MVA can be used to address a wide variety of medical neuroimaging-related challenges including identifying variables associated with a measure of clinical importance (i.e. patient outcome), creating diagnostic tests, assisting in characterizing developmental disorders, understanding disease etiology, development and progression, assisting in treatment monitoring and much more. Compared to adults, imaging of developing immature brains has attracted less attention from MVA researchers. However, remarkable MVA research growth has occurred in recent years. This paper presents the results of a systematic review of the literature focusing on MVA technologies applied to neurodevelopmental disorders in fetal, neonatal and pediatric magnetic resonance imaging (MRI) of the brain. The goal of this manuscript is to provide a concise review of the state of the scientific literature on studies employing brain MRI and MVA in a pre-adult population. Neurological developmental disorders addressed in the MVA research contained in this review include autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, schizophrenia and more. While the results of this review demonstrate considerable interest from the scientific community in applications of MVA technologies in pediatric/neonatal/fetal brain MRI, the field is still young and considerable research growth remains ahead of us. PMID:26640765

Multivariate analyses applied to fetal, neonatal and pediatric MRI of neurodevelopmental disorders.

PubMed

Levman, Jacob; Takahashi, Emi

2015-01-01

Multivariate analysis (MVA) is a class of statistical and pattern recognition methods that involve the processing of data that contains multiple measurements per sample. MVA can be used to address a wide variety of medical neuroimaging-related challenges including identifying variables associated with a measure of clinical importance (i.e. patient outcome), creating diagnostic tests, assisting in characterizing developmental disorders, understanding disease etiology, development and progression, assisting in treatment monitoring and much more. Compared to adults, imaging of developing immature brains has attracted less attention from MVA researchers. However, remarkable MVA research growth has occurred in recent years. This paper presents the results of a systematic review of the literature focusing on MVA technologies applied to neurodevelopmental disorders in fetal, neonatal and pediatric magnetic resonance imaging (MRI) of the brain. The goal of this manuscript is to provide a concise review of the state of the scientific literature on studies employing brain MRI and MVA in a pre-adult population. Neurological developmental disorders addressed in the MVA research contained in this review include autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, schizophrenia and more. While the results of this review demonstrate considerable interest from the scientific community in applications of MVA technologies in pediatric/neonatal/fetal brain MRI, the field is still young and considerable research growth remains ahead of us.

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

PubMed

Thurm, Audrey; Himelstein, Daniel; DʼSouza, Precilla; Rennert, Owen; Jiang, Susanqi; Olatunji, Damilola; Longo, Nicola; Pasquali, Marzia; Swedo, Susan; Salomons, Gajja S; Carrillo, Nuria

2016-05-01

Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene. Prevalence studies suggest this disorder may be underdiagnosed. We sought to identify cases from a well-characterized cohort of children diagnosed with neurodevelopmental disorders. Urine screening for CTD was performed on a cohort of 46 males with autism spectrum disorder (ASD) and 9 males with a history of non-ASD developmental delay (DD) classified with intellectual disability. We identified 1 patient with CTD in the cohort based on abnormal urine Cr/Crn, and confirmed the diagnosis by the identification of a novel frameshift mutation in the SLC6A8 gene. This patient presented without ASD but with intellectual disability, and was characterized by a nonspecific phenotype of early language delay and DD that persisted into moderate-to-severe intellectual disability, consistent with previous descriptions of CTD. Identification of patients with CTD is possible by measuring urine Cr and Crn levels and the current case adds to the growing literature of neurocognitive deficits associated with the disorder that affect cognition, language and behavior in childhood.

[Effect of developmental disorders on personality and personality disorders].

PubMed

Honda, Hideo

2013-01-01

Developmental disorders (DD) are now so common that it is even more necessary to investigate the relationship between DD and personality disorders (PD). Despite the lack of studies, DD and PD have much in common. For research on personality and its disorders, direct, real-time observation by researchers themselves on the "black box" of temperament and its interaction with the environment is needed. For research on DD, especially in those with mild DD symptoms, how developmental characteristics and their interaction with the environment affect the personality in adulthood should be investigated.

Preschool-Age Male Psychiatric Patients with Specific Developmental Disorders and Those Without: Do They Differ in Behavior Problems and Treatment Outcome?

ERIC Educational Resources Information Center

Achtergarde, Sandra; Becke, Johanna; Beyer, Thomas; Postert, Christian; Romer, Georg; Müller, Jörg Michael

2014-01-01

Specific developmental disorders of speech, language, and motor function in children are associated with a wide range of mental health problems. We examined whether preschool-age psychiatric patients with specific developmental disorders and those without differed in the severity of emotional and behavior problems. In addition, we examined whether…

Reliability and Diagnostic Efficiency of the Diagnostic Inventory for Disharmony (DID) in Youths with Pervasive Developmental Disorder and Multiple Complex Developmental Disorder

ERIC Educational Resources Information Center

Xavier, Jean; Vannetzel, Leonard; Viaux, Sylvie; Leroy, Arthur; Plaza, Monique; Tordjman, Sylvie; Mille, Christian; Bursztejn, Claude; Cohen, David; Guile, Jean-Marc

2011-01-01

The Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) category is a psychopathological entity few have described and is poorly, and mainly negatively, defined by autism exclusion. In order to limit PDD-NOS heterogeneity, alternative clinical constructs have been developed. This study explored the reliability and the diagnostic…

Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.

PubMed

Hawks, Zoë W; Strube, Michael J; Johnson, Neco X; Grange, Dorothy K; White, Desirée A

2018-01-01

Phenylketonuria (PKU) is a hereditary disorder characterized by disrupted phenylalanine metabolism and cognitive impairment. However, the precise nature and developmental trajectory of this cognitive impairment remains unclear. The present study used a verbal fluency task to dissociate executive and verbal processes in children with PKU (n = 23; 7-18 years) and controls (n = 44; 7-19 years). Data were collected at three longitudinal timepoints over a three-year period, and the contributions of age, group, and their interaction to fluency performance were evaluated. Results indicated impairments in executive processes in children with PKU, which were exacerbated by declining metabolic control.

Experimental Models of Maternal Obesity and Neuroendocrine Programming of Metabolic Disorders in Offspring.

PubMed

Reynolds, Clare M; Segovia, Stephanie A; Vickers, Mark H

2017-01-01

Evidence from epidemiological, clinical, and experimental studies have clearly shown that disease risk in later life is increased following a poor early life environment, a process preferentially termed developmental programming. In particular, this work clearly highlights the importance of the nutritional environment during early development with alterations in maternal nutrition, including both under- and overnutrition, increasing the risk for a range of cardiometabolic and neurobehavioral disorders in adult offspring characterized by both adipokine resistance and obesity. Although the mechanistic basis for such developmental programming is not yet fully defined, a common feature derived from experimental animal models is that of alterations in the wiring of the neuroendocrine pathways that control energy balance and appetite regulation during early stages of developmental plasticity. The adipokine leptin has also received significant attention with clear experimental evidence that normal regulation of leptin levels during the early life period is critical for the normal development of tissues and related signaling pathways that are involved in metabolic and cardiovascular homeostasis. There is also increasing evidence that alterations in the epigenome and other underlying mechanisms including an altered gut-brain axis may contribute to lasting cardiometabolic dysfunction in offspring. Ongoing studies that further define the mechanisms between these associations will allow for identification of early risk markers and implementation of strategies around interventions that will have obvious beneficial implications in breaking a programmed transgenerational cycle of metabolic disorders.

Exome Sequencing and the Management of Neurometabolic Disorders.

PubMed

Tarailo-Graovac, Maja; Shyr, Casper; Ross, Colin J; Horvath, Gabriella A; Salvarinova, Ramona; Ye, Xin C; Zhang, Lin-Hua; Bhavsar, Amit P; Lee, Jessica J Y; Drögemöller, Britt I; Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R; Burda, Patricie; Connolly, Mary B; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A Mark; Friedman, Jan M; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; Ogunbayo, Oluseye A; Rakic, Bojana; Rozmus, Jacob; Ruben, Peter; Sayson, Bryan; Santra, Saikat; Schultz, Kirk R; Selby, Kathryn; Shekel, Paul; Sirrs, Sandra; Skrypnyk, Cristina; Superti-Furga, Andrea; Turvey, Stuart E; Van Allen, Margot I; Wishart, David; Wu, Jiang; Wu, John; Zafeiriou, Dimitrios; Kluijtmans, Leo; Wevers, Ron A; Eydoux, Patrice; Lehman, Anna M; Vallance, Hilary; Stockler-Ipsiroglu, Sylvia; Sinclair, Graham; Wasserman, Wyeth W; van Karnebeek, Clara D

2016-06-09

Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level. To uncover the genetic basis of potentially treatable inborn errors of metabolism, we combined deep clinical phenotyping (the comprehensive characterization of the discrete components of a patient's clinical and biochemical phenotype) with whole-exome sequencing analysis through a semiautomated bioinformatics pipeline in consecutively enrolled patients with intellectual developmental disorder and unexplained metabolic phenotypes. We performed whole-exome sequencing on samples obtained from 47 probands. Of these patients, 6 were excluded, including 1 who withdrew from the study. The remaining 41 probands had been born to predominantly nonconsanguineous parents of European descent. In 37 probands, we identified variants in 2 genes newly implicated in disease, 9 candidate genes, 22 known genes with newly identified phenotypes, and 9 genes with expected phenotypes; in most of the genes, the variants were classified as either pathogenic or probably pathogenic. Complex phenotypes of patients in five families were explained by coexisting monogenic conditions. We obtained a diagnosis in 28 of 41 probands (68%) who were evaluated. A test of a targeted intervention was performed in 18 patients (44%). Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%. (Funded by BC Children's Hospital Foundation and others.).

Exome Sequencing and the Management of Neurometabolic Disorders

PubMed Central

Tarailo-Graovac, M.; Shyr, C.; Ross, C.J.; Horvath, G.A.; Salvarinova, R.; Ye, X.C.; Zhang, L.-H.; Bhavsar, A.P.; Lee, J.J.Y.; Drögemöller, B.I.; Abdelsayed, M.; Alfadhel, M.; Armstrong, L.; Baumgartner, M.R.; Burda, P.; Connolly, M.B.; Cameron, J.; Demos, M.; Dewan, T.; Dionne, J.; Evans, A.M.; Friedman, J.M.; Garber, I.; Lewis, S.; Ling, J.; Mandal, R.; Mattman, A.; McKinnon, M.; Michoulas, A.; Metzger, D.; Ogunbayo, O.A.; Rakic, B.; Rozmus, J.; Ruben, P.; Sayson, B.; Santra, S.; Schultz, K.R.; Selby, K.; Shekel, P.; Sirrs, S.; Skrypnyk, C.; Superti-Furga, A.; Turvey, S.E.; Van Allen, M.I.; Wishart, D.; Wu, J.; Wu, J.; Zafeiriou, D.; Kluijtmans, L.; Wevers, R.A.; Eydoux, P.; Lehman, A.M.; Vallance, H.; Stockler-Ipsiroglu, S.; Sinclair, G.; Wasserman, W.W.; van Karnebeek, C.D.

2016-01-01

BACKGROUND Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level. METHODS To uncover the genetic basis of potentially treatable inborn errors of metabolism, we combined deep clinical phenotyping (the comprehensive characterization of the discrete components of a patient’s clinical and biochemical phenotype) with whole-exome sequencing analysis through a semiautomated bioinformatics pipeline in consecutively enrolled patients with intellectual developmental disorder and unexplained metabolic phenotypes. RESULTS We performed whole-exome sequencing on samples obtained from 47 probands. Of these patients, 6 were excluded, including 1 who withdrew from the study. The remaining 41 probands had been born to predominantly nonconsanguineous parents of European descent. In 37 probands, we identified variants in 2 genes newly implicated in disease, 9 candidate genes, 22 known genes with newly identified phenotypes, and 9 genes with expected phenotypes; in most of the genes, the variants were classified as either pathogenic or probably pathogenic. Complex phenotypes of patients in five families were explained by coexisting monogenic conditions. We obtained a diagnosis in 28 of 41 probands (68%) who were evaluated. A test of a targeted intervention was performed in 18 patients (44%). CONCLUSIONS Deep phenotyping and whole-exome sequencing in 41 probands with intellectual developmental disorder and unexplained metabolic abnormalities led to a diagnosis in 68%, the identification of 11 candidate genes newly implicated in neurometabolic disease, and a change in treatment beyond genetic counseling in 44%. (Funded by BC Children’s Hospital Foundation and others.) PMID:27276562

Light up ADHD: I. Cortical hemodynamic responses measured by functional Near Infrared Spectroscopy (fNIRS): Special Section on "Translational and Neuroscience Studies in Affective Disorders" Section Editor, Maria Nobile MD, PhD. This Section of JAD focuses on the relevance of translational and neuroscience studies in providing a better understanding of the neural basis of affective disorders. The main aim is to briefly summarise relevant research findings in clinical neuroscience with particular regards to specific innovative topics in mood and anxiety disorders.

PubMed

Mauri, Maddalena; Nobile, Maria; Bellina, Monica; Crippa, Alessandro; Brambilla, Paolo

2018-07-01

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by deficits in cognitive and emotional self-control. Optical technique acquisitions, such as near infrared spectroscopy (NIRS), seem to be very promising during developmental ages, as they are non- invasive techniques and less influenced by body movements than other neuroimaging methods. Recently, these new techniques are being widely used to measure neural correlates underlying neuropsychological deficits in children with ADHD. In a short series of articles, we will review the results of functional NIRS (fNIRS) studies in children with ADHD. The present brief review will focus on the results of the fNIRS studies that investigate cortical activity during neuropsychological and/or emotional tasks. According to the reviewed studies, children and adolescents with ADHD show peculiar cortical activation both during neurological and emotional tasks, and the majority of the reviewed studies revealed lower prefrontal cortex activation in patients compared to typically developmental controls. a consistent interpretation of these results is limited by the substantial methodological heterogeneity including patients' medication status and washout period, explored cerebral regions, neuropsychological tasks, number of channels and sampling temporal resolutions. fNIRS seems to be a promising tool for investigating neural substrates of emotional dysregulation and executive function deficits in individuals with ADHD during developmental ages. Copyright © 2017 Elsevier B.V. All rights reserved.

Motor Performance and Rhythmic Perception of Children with Intellectual and Developmental Disability and Developmental Coordination Disorder

ERIC Educational Resources Information Center

Kartasidou, Lefkothea; Varsamis, Panagiotis; Sampsonidou, Anna

2012-01-01

Professionals who work with children presenting intellectual and developmental disability (IDD) and developmental coordination disorder (DCD) are concerned with their motor development and their rhythmic perception. The aim of this study is to investigate the correlation between a motor performance test and a music rhythmic test that measures…

Mutational Analysis of Cell Types in TSC

DTIC Science & Technology

2008-01-01

disability, and autism . TSC1/TSC2 gene mutations lead to developmental alterations in brain structure known as tubers in over 80% of TSC patients. Loss of...that is associated with epilepsy, cognitive disability, and autism . TSC1/TSC2 gene mutations lead to developmental alterations in brain structure...2000). Comorbid neuropsychological disorders such as autism , mental retardation (MR), pervasive developmental disorder, attention deficit disorder (ADD

Visualizing the Comorbidity Burden in Children with Autism Spectrum Disorder Receiving Dental Treatment Under General Anesthesia.

PubMed

Mathu-Muju, Kavita R; Li, Hsin-Fang; Nam, Lisa H; Bush, Heather M

2016-01-01

The purposes of this study were to: (1) describe the comorbidity burden in children with autism spectrum disorder (ASD) receiving dental treatment under general anesthesia (GA); and (2) characterize the complexity of these concurrent comorbidities. A retrospective chart review was completed of 303 children with ASD who received dental treatment under GA. All comorbidities, in addition to the primary diagnosis of ASD, were categorized using the International Classification of Diseases-10 codes. The interconnectedness of the comorbidities was graphically displayed using a network plot. Network indices (degree centrality, betweenness centrality, closeness centrality) were used to characterize the comorbidities that exhibited the highest connectedness to ASD. The network plot of medical diagnoses for children with ASD was highly complex, with multiple connected comorbidities. Developmental delay, speech delay, intellectual disability, and seizure disorders exhibited the highest connectedness to ASD. Children with autism spectrum disorder may have a significant comorbidity burden of closely related neurodevelopmental disorders. The medical history review should assess the severity of these concurrent disorders to evaluate a patient's potential ability to cooperate for dental treatment and to determine appropriate behavior guidance techniques to facilitate the delivery of dental care.

SOS: A Screening Instrument to Identify Children with Handwriting Impairments

ERIC Educational Resources Information Center

Van Waelvelde, Hilde; Hellinckx, Tinneke; Peersman, Wim; Smits-Engelsman, Bouwien C. M.

2012-01-01

Poor handwriting has been shown to be associated with developmental disorders such as Developmental Coordination Disorder, Attention Deficit Hyperactivity Disorder, autism, and learning disorders. Handwriting difficulties could lead to academic underachievement and poor self-esteem. Therapeutic intervention has been shown to be effective in…

Embryological exposure to valproic acid induces social interaction deficits in zebrafish (Danio rerio): A developmental behavior analysis.

PubMed

Zimmermann, Fernanda Francine; Gaspary, Karina Vidarte; Leite, Carlos Eduardo; De Paula Cognato, Giana; Bonan, Carla Denise

2015-01-01

Changes in social behavior are associated with brain disorders, including mood disorders, stress, schizophrenia, Alzheimer's disease, and autism spectrum disorders (ASD). Autism is a complex neurodevelopmental disorder characterized by deficits in social interaction, impaired communication, anxiety, hyperactivity, and the presence of restricted interests. Zebrafish is one of the most social vertebrates used as a model in biomedical research, contributing to an understanding of the mechanisms that underlie social behavior. Valproic acid (VPA) is used as an anti-epileptic drug and mood stabilizer; however, prenatal VPA exposure in humans has been associated with an increased incidence of autism and it can also affect fetal brain development. Therefore, we conducted a behavioral screening at different periods of zebrafish development at 6, 30, 70, and 120dpf (days postfertilization) after VPA exposure in the early development stage to investigate social behavior, locomotion, aggression, and anxiety. VPA (48μM) exposure during the first 48hpf (hours postfertilization) did not promote changes on survival, morphology, and hatching rate at 24hpf, 48hpf, and 72hpf. The behavioral patterns suggest that VPA exposure induces changes in locomotor activity and anxiety at different developmental periods in zebrafish. Furthermore, a social interaction deficit is present at 70dpf and 120dpf. VPA exposure did not affect aggression in the adult stage at 70dpf and 120dpf. This is the first study that demonstrated zebrafish exposed to VPA during the first 48h of development exhibit deficits in social interaction, anxiety, and hyperactivity at different developmental periods. Copyright © 2015 Elsevier Inc. All rights reserved.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

PubMed

Martinelli, Simone; Krumbach, Oliver H F; Pantaleoni, Francesca; Coppola, Simona; Amin, Ehsan; Pannone, Luca; Nouri, Kazem; Farina, Luciapia; Dvorsky, Radovan; Lepri, Francesca; Buchholzer, Marcel; Konopatzki, Raphael; Walsh, Laurence; Payne, Katelyn; Pierpont, Mary Ella; Vergano, Samantha Schrier; Langley, Katherine G; Larsen, Douglas; Farwell, Kelly D; Tang, Sha; Mroske, Cameron; Gallotta, Ivan; Di Schiavi, Elia; Della Monica, Matteo; Lugli, Licia; Rossi, Cesare; Seri, Marco; Cocchi, Guido; Henderson, Lindsay; Baskin, Berivan; Alders, Mariëlle; Mendoza-Londono, Roberto; Dupuis, Lucie; Nickerson, Deborah A; Chong, Jessica X; Meeks, Naomi; Brown, Kathleen; Causey, Tahnee; Cho, Megan T; Demuth, Stephanie; Digilio, Maria Cristina; Gelb, Bruce D; Bamshad, Michael J; Zenker, Martin; Ahmadian, Mohammad Reza; Hennekam, Raoul C; Tartaglia, Marco; Mirzaa, Ghayda M

2018-01-17

Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously appreciated. Here, we report that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome, a developmental disorder caused by dysregulated RAS signaling. In silico, in vitro, and in vivo analyses demonstrate that mutations variably perturb CDC42 function by altering the switch between the active and inactive states of the GTPase and/or affecting CDC42 interaction with effectors, and differentially disturb cellular and developmental processes. These findings reveal the remarkably variable impact that dominantly acting CDC42 mutations have on cell function and development, creating challenges in syndrome definition, and exemplify the importance of functional profiling for syndrome recognition and delineation. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

[Left temporal arachnoid cyst and specific learning disorders associated with Pervasive Developmental Disorders - Not Otherwise Specified (PDD-NOS): contributions of an integrative neuropsychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (François)].

PubMed

Vaivre-Douret, L; Boschi, A; Cuny, M L; Clouard, C; Mosser, A; Golse, B; Philippe, A; Bourgeois, M; Boddaert, N; Puget, S

2016-12-01

Left temporal arachnoid cyst and specific learning disorders associated with pervasive developmental disorders - not otherwise specified (PDD-NOS): contributions of an integrative neuro-psychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (François). With DSM-IV and DSM-IV-TR, the terminology of pervasive developmental disorders (PDD) covers two main categories of infantile disorders: disorders of "strictly" autistic nature and pervasive developmental disorders - not otherwise specified (PDD-NOS). Under the terminology of multiple complex developmental disorder (MCDD), it is proposed to classify children presenting symptoms approaching the psychotic disharmonies and usually diagnosed as PDD-NOS. Such a category of developmental disorders is now included without nosographic distinction in the autistic spectrum in the Diagnostic and Statistical Manual of mental disorders (DSM-V). We are reporting a case report of a 6-year-old boy which shows a PDD-NoS/MCDD complex symptomatology type. This child presents multiple disorders: minor neurological signs (soft signs), neuro-psychomotor disorders, developmental coordination disorder (DCD), communication, thought, and regulation of emotions disorders, attention deficit disorders (ADD); in the presence of a high verbal intellectual potential, which makes it difficult to establish a clear diagnosis. A cerebral magnetic resonance imaging (MRI) was carried out due to the presence of minor neurological signs (soft signs) and of neurodevelopmental multiple disorders. The MRI revealed a voluminous arachnoid temporo-polar left cyst with a marked mass effect on the left temporal lobe. A neurosurgical intervention allowed to observe the gradual disappearance of the specific symptomatology (in particular soft signs, neuro-psychomotor functions and autistic symptoms) secondary to the interference of the cyst's pressure with intracranial areas involving neurological and psychopathological abnormalities, underlying at the same time the reversibility of the disorders after decompression as demonstrated in some studies. There are always, with a quantitative and qualitative decrease, an emotional dysregulation, a DCD, an ADD as well as impairments in the executive functions. This clinical case underlines the necessity of an evaluation in a transdisciplinary way and to follow the developmental evolution of the child in order to focus adapted therapeutics. Furthermore, with neurodevelopmental disorders not specified, it is important to examine the presence of soft signs with standardized neuro-psychomotor assessment, and then, to propose an MRI investigation. To our knowledge, this is the first report in the literature with a school age child of an unusual association between a temporal arachnoid cyst associated with PDD-NOS/MCDD. Copyright © 2016 L’Encéphale, Paris. Published by Elsevier Masson SAS. All rights reserved.

Developmental coordination disorders and sensory processing and integration: Incidence, associations and co-morbidities.

PubMed

Allen, Susan; Casey, Jackie

2017-09-01

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.

Dealing with ADHD in a Greek Primary School

ERIC Educational Resources Information Center

Pantaleon, Anastasia

2016-01-01

Attention deficit hyperactivity disorder (ADHD) is a chronic developmental disorder with symptoms of inattention, impulsivity and hyperactivity. The developmental course of the disorder shows that symptoms may be present even from infancy. The aetiology of the disorder may result from many factors, genetic and neurological playing the leading…

Attachment in Toddlers with Autism and Other Developmental Disorders

ERIC Educational Resources Information Center

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

2007-01-01

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…

Predictors of Self-Injurious Behaviour Exhibited by Individuals with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Richman, D. M.; Barnard-Brak, L.; Bosch, A.; Thompson, S.; Grubb, L.; Abby, L.

2013-01-01

Background: Presence of an autism spectrum disorder is a risk factor for development of self-injurious behaviour (SIB) exhibited by individuals with developmental disorders. The most salient SIB risk factors historically studied within developmental disorders are level of intellectual disability, communication deficits and presence of specific…

The Developmental Course of Anxiety Symptoms during Adolescence: The TRAILS Study

ERIC Educational Resources Information Center

Van Oort, F. V. A.; Greaves-Lord, K.; Verhulst, F. C.; Ormel, J.; Huizink, A. C.

2009-01-01

Background: Little is known about the development of anxiety symptoms from late childhood to late adolescence. The present study determined developmental trajectories of symptoms of separation anxiety disorder (SAD), social phobia (SoPh), generalized anxiety disorder (GAD), panic disorder (PD), and obsessive-compulsive disorder (OCD) in a large…

CAD mutations and uridine-responsive epileptic encephalopathy.

PubMed

Koch, Johannes; Mayr, Johannes A; Alhaddad, Bader; Rauscher, Christian; Bierau, Jörgen; Kovacs-Nagy, Reka; Coene, Karlien L M; Bader, Ingrid; Holzhacker, Monika; Prokisch, Holger; Venselaar, Hanka; Wevers, Ron A; Distelmaier, Felix; Polster, Tilman; Leiz, Steffen; Betzler, Cornelia; Strom, Tim M; Sperl, Wolfgang; Meitinger, Thomas; Wortmann, Saskia B; Haack, Tobias B

2017-02-01

Unexplained global developmental delay and epilepsy in childhood pose a major socioeconomic burden. Progress in defining the molecular bases does not often translate into effective treatment. Notable exceptions include certain inborn errors of metabolism amenable to dietary intervention. CAD encodes a multifunctional enzyme involved in de novo pyrimidine biosynthesis. Alternatively, pyrimidines can be recycled from uridine. Exome sequencing in three families identified biallelic CAD mutations in four children with global developmental delay, epileptic encephalopathy, and anaemia with anisopoikilocytosis. Two died aged 4 and 5 years after a neurodegenerative disease course. Supplementation of the two surviving children with oral uridine led to immediate cessation of seizures in both. A 4-year-old female, previously in a minimally conscious state, began to communicate and walk with assistance after 9 weeks of treatment. A 3-year-old female likewise showed developmental progress. Blood smears normalized and anaemia resolved. We establish CAD as a gene confidently implicated in this neurometabolic disorder, characterized by co-occurrence of global developmental delay, dyserythropoietic anaemia and seizures. While the natural disease course can be lethal in early childhood, our findings support the efficacy of uridine supplementation, rendering CAD deficiency a treatable neurometabolic disorder and therefore a potential condition for future (genetic) newborn screening. © The Author (2016). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

PubMed Central

Runtuwene, Vincent; van Eekelen, Mark; Overvoorde, John; Rehmann, Holger; Yntema, Helger G.; Nillesen, Willy M.; van Haeringen, Arie; van der Burgt, Ineke; Burgering, Boudewijn; den Hertog, Jeroen

2011-01-01

SUMMARY Noonan syndrome is a relatively common developmental disorder that is characterized by reduced growth, wide-set eyes and congenital heart defects. Noonan syndrome is associated with dysregulation of the Ras–mitogen-activated-protein-kinase (MAPK) signaling pathway. Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E. Here, we report a mutation in NRAS, resulting in an I24N amino acid substitution, that we identified in an individual bearing typical Noonan syndrome features. The I24N mutation activates N-Ras, resulting in enhanced downstream signaling. Expression of N-Ras-I24N, N-Ras-G60E or the strongly activating mutant N-Ras-G12V, which we included as a positive control, results in developmental defects in zebrafish embryos, demonstrating that these activating N-Ras mutants are sufficient to induce developmental disorders. The defects in zebrafish embryos are reminiscent of symptoms in individuals with Noonan syndrome and phenocopy the defects that other Noonan-syndrome-associated genes induce in zebrafish embryos. MEK inhibition completely rescued the activated N-Ras-induced phenotypes, demonstrating that these defects are mediated exclusively by Ras-MAPK signaling. In conclusion, mutations in NRAS from individuals with Noonan syndrome activated N-Ras signaling and induced developmental defects in zebrafish embryos, indicating that activating mutations in NRAS cause Noonan syndrome. PMID:21263000

Exploring the Boundaries of Pervasive Developmental Disorder Not Otherwise Specified: Analyses of Data from the DSM-IV Autistic Disorder Field Trial.

ERIC Educational Resources Information Center

Buitelaar, Jan K.; Van der Gaag, Rutger; Klin, Ami; Volkmar, Fred

1999-01-01

A study compared characteristics of individuals with mild retardation and clinically classified as autistic disorder (n=205), Pervasive Developmental Disorder Not Otherwise Specified (PDDNOS) (n=80), and other non-PDD disorders (n=174). Only a few items from the ICD-10 and DSM-IV discriminated the PDDNOS group from other disorders. Suggested…

Atypical prefrontal cortical responses to joint/non-joint attention in children with autism spectrum disorder (ASD): A functional near-infrared spectroscopy study

PubMed Central

Zhu, Huilin; Li, Jun; Fan, Yuebo; Li, Xinge; Huang, Dan; He, Sailing

2015-01-01

Autism spectrum disorder (ASD) is a neuro-developmental disorder, characterized by impairments in one’s capacity for joint attention. In this study, functional near-infrared spectroscopy (fNIRS) was applied to study the differences in activation and functional connectivity in the prefrontal cortex between children with autism spectrum disorder (ASD) and typically developing (TD) children. 21 ASD and 20 TD children were recruited to perform joint and non-joint attention tasks. Compared with TD children, children with ASD showed reduced activation and atypical functional connectivity pattern in the prefrontal cortex during joint attention. The atypical development of left prefrontal cortex might play an important role in social cognition defects of children with ASD. PMID:25798296

Dental Perspectives in Fibrous Dysplasia and McCune-Albright Syndrome

PubMed Central

Akintoye, Sunday O.; Boyce, Alison M.; Collins, Michael T.

2013-01-01

McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (PFD), endocrine disorders and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant orofacial deformity, dental disorders, bone pain and compromised oral health. Maxillo-mandibular FD is also associated with dental developmental disorders, malocclusion, and high caries index. There is limited data on the outcomes of dental treatments in maxillo-mandibular FD/MAS patients, because clinicians and researchers have limited access to patients, and there are concerns that dental surgery may activate quiescent jaw FD lesions to grow aggressively. This report highlights current perspectives on dental management issues associated with maxillo-mandibular FD within the context of MAS. PMID:23953425

The impact of handwriting difficulties on compositional quality in children with developmental coordination disorder

PubMed Central

Barnett, Anna L; Wilmut, Kate; Plumb, Mandy S

2016-01-01

Introduction There is substantial evidence to support the relationship between transcription skills (handwriting and spelling) and compositional quality. For children with developmental coordination disorder, handwriting can be particularly challenging. While recent research has aimed to investigate their handwriting difficulties in more detail, the impact of transcription on their compositional quality has not previously been examined. The aim of this exploratory study was to examine compositional quality in children with developmental coordination disorder and to ascertain whether their transcription skills influence writing quality. Method Twenty-eight children with developmental coordination disorder participated in the study, with 28 typically developing age and gender matched controls. The children completed the ‘free-writing’ task from the detailed assessment of speed of handwriting tool, which was evaluated for compositional quality using the Wechsler objective language dimensions. Results The children with developmental coordination disorder performed significantly below their typically developing peers on five of the six Wechsler objective language dimensions items. They also had a higher percentage of misspelled words. Regression analyses indicated that the number of words produced per minute and the percentage of misspelled words explained 55% of the variance for compositional quality. Conclusion The handwriting difficulties so commonly reported in children with developmental coordination disorder have wider repercussions for the quality of written composition. PMID:27807392

Toward a Narrower, More Pragmatic View of Developmental Dyspraxia

PubMed Central

Steinman, Kyle J.; Mostofsky, Stewart H.; Denckla, Martha B.

2010-01-01

Apraxia traditionally refers to impaired ability to carry out skilled movements in the absence of fundamental sensorimotor, language, or general cognitive impairment sufficient to preclude them. The child neurology literature includes a much broader and varied usage of the term developmental dyspraxia. It has been used to describe a wide range of motor symptoms, including clumsiness and general coordination difficulties, in various developmental disorders (including autistic spectrum disorders, developmental language disorders, and perinatal stroke). We argue for the need to restrict use of the term developmental dyspraxia to describe impaired performance of skilled gestures, recognizing that, unlike acquired adult-onset apraxia, coexisting sensory and motor problems may also be present. PMID:20032517

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

PubMed

Fan, Yanjie; Qiu, Wenjuan; Wang, Lili; Gu, Xuefan; Yu, Yongguo

2016-02-01

Genomic rearrangements involving dosage change of genes have been implicated in a range of developmental disorders. Increasing evidences suggest copy number variations (CNVs) of autism susceptibility candidate gene 2 (AUTS2) are associated with a syndromic form of developmental delay and intellectual disability. However, the genetic and clinical profiles involving AUTS2 variations have not been fully characterized in Asian patients yet, and the outcome of treatments has not been reported. Here we report de novo exonic deletions of AUTS2 detected by chromosomal microarray analysis (CMA) in three Chinese children referred to the clinic for developmental delay, including two deletions involving only exon 6 (98.4 and 262 kb, respectively) and one deletion involving the C-terminal of AUTS2 (2147 kb). The phenotypic presentations of these three patients were described and compared with previous cases in literature. In addition, we presented the outcome of hormonal treatment for short stature in one patient. © 2015 Wiley Periodicals, Inc.

From Mice to Men: research models of developmental programming

PubMed Central

Rabadán-Diehl, C.; Nathanielsz, P.

2012-01-01

Developmental programming can be defined as a response to a specific challenge to the mammalian organism during a critical developmental time window that alters the trajectory of development with persistent effects on offspring phenotype and predisposition to future illness. We focus on the need for studies in relevant, well-characterized animal models in the context of recent research discoveries on the challenges, mechanisms and outcomes of developmental programming. We discuss commonalities and differences in general principles of developmental programming as they apply to several species, including humans. The consequences of these differences are discussed. Obesity, metabolic disorders and cardiovascular diseases are associated with the highest percentage of morbidity and mortality worldwide. Although many of the causes are associated with lifestyle, high-energy diets and lack of physical activity, recent evidence has linked developmental programming to the epidemic of metabolic diseases. A better understanding of comparative systems physiology of mother, fetus and neonate using information provided by rapid advances in molecular biology has the potential to improve the lifetime health of future generations by providing better women’s health, diagnostic tools and preventative and therapeutic interventions in individuals exposed during their development to programming influences. PMID:23525085

Developmental Regression in Autism Spectrum Disorders

ERIC Educational Resources Information Center

Rogers, Sally J.

2004-01-01

The occurrence of developmental regression in autism is one of the more puzzling features of this disorder. Although several studies have documented the validity of parental reports of regression using home videos, accumulating data suggest that most children who demonstrate regression also demonstrated previous, subtle, developmental differences.…

A Comparison of Motor Delays in Young Children: Autism Spectrum Disorder, Developmental Delay, and Developmental Concerns

ERIC Educational Resources Information Center

Provost, Beth; Lopez, Brian R.; Heimerl, Sandra

2007-01-01

This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns…

Reelin-Haploinsufficiency Disrupts the Developmental Trajectory of the E/I Balance in the Prefrontal Cortex

PubMed Central

Bouamrane, Lamine; Scheyer, Andrew F.; Lassalle, Olivier; Iafrati, Jillian; Thomazeau, Aurore; Chavis, Pascale

2017-01-01

The reelin gene is a strong candidate in the etiology of several psychiatric disorders such as schizophrenia, major depression, bipolar disorders, and autism spectrum disorders. Most of these diseases are accompanied by cognitive and executive-function deficits associated with prefrontal dysfunctions. Mammalian prefrontal cortex (PFC) development is characterized by a protracted postnatal maturation constituting a period of enhanced vulnerability to psychiatric insults. The identification of the molecular components underlying this prolonged postnatal development is necessary to understand the synaptic properties of defective circuits participating in these psychiatric disorders. We have recently shown that reelin plays a key role in the maturation of glutamatergic functions in the postnatal PFC, but no data are available regarding the GABAergic circuits. Here, we undertook a cross-sectional analysis of GABAergic function in deep layer pyramidal neurons of the medial PFC of wild-type and haploinsufficient heterozygous reeler mice. Using electrophysiological approaches, we showed that decreased reelin levels impair the maturation of GABAergic synaptic transmission without affecting the inhibitory nature of GABA. This phenotype consequently impacted the developmental sequence of the synaptic excitation/inhibition (E/I) balance. These data indicate that reelin is necessary for the correct maturation and refinement of GABAergic synaptic circuits in the postnatal PFC and therefore provide a mechanism for altered E/I balance of prefrontal circuits associated with psychiatric disorders. PMID:28127276

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.

PubMed

Pindolia, Kirit; Jordan, Megan; Guo, Caiying; Matthews, Nell; Mock, Donald M; Strovel, Erin; Blitzer, Miriam; Wolf, Barry

2011-02-01

Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia. Although the clinical features of the disorder markedly improve or are prevented with biotin supplementation, some symptoms, once they occur, such as developmental delay, hearing loss and optic atrophy, are usually irreversible. To prevent development of symptoms, the disorder is screened for in the newborn period in essentially all states and in many countries. In order to better understand many aspects of the pathophysiology of the disorder, we have developed a transgenic biotinidase-deficient mouse. The mouse has a null mutation that results in no detectable serum biotinidase activity or cross-reacting material to antibody prepared against biotinidase. When fed a biotin-deficient diet these mice develop neurological and cutaneous symptoms, carboxylase deficiency, mild hyperammonemia, and exhibit increased urinary excretion of 3-hydroxyisovaleric acid and biotin and biotin metabolites. The clinical features are reversed with biotin supplementation. This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states. Copyright © 2010 Elsevier Inc. All rights reserved.

The Interplay between Emotion and Cognition in Autism Spectrum Disorder: Implications for Developmental Theory

PubMed Central

Gaigg, Sebastian B.

2012-01-01

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

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

PubMed Central

Celen, Cemre; Chuang, Jen-Chieh; Luo, Xin; Nijem, Nadine; Walker, Angela K; Chen, Fei; Zhang, Shuyuan; Chung, Andrew S; Nguyen, Liem H; Nassour, Ibrahim; Budhipramono, Albert; Sun, Xuxu; Bok, Levinus A; McEntagart, Meriel; Gevers, Evelien F; Birnbaum, Shari G; Eisch, Amelia J; Powell, Craig M; Ge, Woo-Ping; Santen, Gijs WE; Chahrour, Maria; Zhu, Hao

2017-01-01

Sequencing studies have implicated haploinsufficiency of ARID1B, a SWI/SNF chromatin-remodeling subunit, in short stature (Yu et al., 2015), autism spectrum disorder (O'Roak et al., 2012), intellectual disability (Deciphering Developmental Disorders Study, 2015), and corpus callosum agenesis (Halgren et al., 2012). In addition, ARID1B is the most common cause of Coffin-Siris syndrome, a developmental delay syndrome characterized by some of the above abnormalities (Santen et al., 2012; Tsurusaki et al., 2012; Wieczorek et al., 2013). We generated Arid1b heterozygous mice, which showed social behavior impairment, altered vocalization, anxiety-like behavior, neuroanatomical abnormalities, and growth impairment. In the brain, Arid1b haploinsufficiency resulted in changes in the expression of SWI/SNF-regulated genes implicated in neuropsychiatric disorders. A focus on reversible mechanisms identified Insulin-like growth factor (IGF1) deficiency with inadequate compensation by Growth hormone-releasing hormone (GHRH) and Growth hormone (GH), underappreciated findings in ARID1B patients. Therapeutically, GH supplementation was able to correct growth retardation and muscle weakness. This model functionally validates the involvement of ARID1B in human disorders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeling. DOI: http://dx.doi.org/10.7554/eLife.25730.001 PMID:28695822

The Interplay between Emotion and Cognition in Autism Spectrum Disorder: Implications for Developmental Theory.

PubMed

Gaigg, Sebastian B

2012-01-01

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.

Spelling well Despite Developmental Language Disorder: What Makes It Possible?

ERIC Educational Resources Information Center

Rakhlin, Natalia; Cardoso-Martins, Cláudia; Kornilov, Sergey A.; Grigorenko, Elena L.

2013-01-01

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),…

Engaging Pediatricians in Developmental Screening: The Effectiveness of Academic Detailing

ERIC Educational Resources Information Center

Honigfeld, Lisa; Chandhok, Laura; Spiegelman, Kenneth

2012-01-01

Use of formal developmental screening tools in the pediatric medical home improves early identification of children with developmental delays and disorders, including Autism Spectrum Disorders. A pilot study evaluated the impact of an academic detailing module in which trainers visited 43 pediatric primary care practices to provide education about…

Children with developmental and behavioural concerns in Singapore.

PubMed

Lian, Wee Bin; Ho, Selina Kah Ying; Choo, Sylvia Hean Tean; Shah, Varsha Atul; Chan, Daisy Kwai Lin; Yeo, Cheo Lian; Ho, Lai Yun

2012-07-01

Childhood developmental and behavioural disorders (CDABD) have been increasingly recognised in recent years. This study evaluated the profiles and outcomes of children referred for developmental and behavioural concerns to a tertiary child developmental centre in Singapore. This is the first such regional database. Baseline information, obtained through a questionnaire, together with history at first consultation, provided information for referral, demographic and presentation profiles. Clinical formulations were then made. Definitive developmental and medical diagnoses, as well as outcomes based on clinical assessment and standardised testing, were recorded at one year post first consultation. Out of 1,304 referrals between January 1, 2003 and December 1, 2004, 45% were 2-4 years old and 74% were boys. The waiting time from referral to first consultation exceeded four months in 52% of children. Following clinical evaluation, 7% were found to be developmentally appropriate. The single most common presenting concern was speech and language (S&L) delay (29%). The most common clinical developmental diagnosis was autism spectrum disorder (ASD) (30%), followed by isolated S&L disorder, global developmental delay (GDD) and cognitive impairment (CI). Recommendations included S&L therapy (57%), occupational therapy (50%) and psychological/behavioural services (40%). At one year, ASD remained the most common definitive developmental diagnosis (31%), followed by S&L disorder, CI and GDD. Most were children with high-prevalence, low-moderate severity disorders who could potentially achieve fair-good prognosis with early intervention. Better appreciation of the profile and outcome of children with CDABD in Singapore could enable better resource planning for diagnosis and intervention.

Autism and Related Disorders

PubMed Central

McPartland, James; Volkmar, Fred R.

2012-01-01

The Pervasive Developmental Disorders are a group of neurodevelopmental disorders that include Autistic Disorder, Asperger’s Disorder, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Childhood Disintegrative Disorder (CDD), and Rett’s Disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (Autistic Disorder, Asperger’s Disorder, and PDD-NOS) are currently referred to as Autism Spectrum Disorders, reflecting divergent phenotypic and etiologic characteristics compared to Rett’s Disorder and CDD. This chapter reviews relevant research and clinical information relevant to appropriate medical diagnosis and treatment. PMID:22608634

Catatonic features in adolescents with schizophrenia with and without a comorbid pervasive developmental disorder

PubMed Central

2014-01-01

Background Catatonia has been associated with both schizophrenia and pervasive developmental disorders. The aim of this study was to evaluate catatonic features among adolescents suffering from schizophrenia. Further, we compared these features between adolescents with a comorbid pervasive developmental disorder and those without one. Finally, we wanted to compare the profile of catatonia-like features of our schizophrenia patients to that described earlier among persons with autism spectrum disorders. Methods The study comprised a consecutive sample of 18 adolescents with schizophrenia (mean age 15.6 years, SD 1.4) and their families. Diagnosis of schizophrenia was assessed with the Schedule for Affective Disorders and Schizophrenia for School-Aged Children – Present and Life-Time (K-SADS-PL) for the DSM-IV. The Diagnostic Interview for Social and Communication Disorders version 11 was used to assess catatonic features. Results All adolescents with schizophrenia had showed some lifetime catatonic features. Approximately 78% of them had already expressed these features before the age of 10. The number of catatonic features before the age of 10 was significantly higher among the adolescents with a comorbid pervasive developmental disorder compared to those without one. The numbers of catatonic features after the age of 10 did not significantly differ between the two groups. Over three-quarters of schizophrenia patients shared four lifetime catatonic features: “lacks facial expression”, “odd intonation”, “poor eye contact” and “lack of cooperation”. Conclusions Adolescent schizophrenia patients with a comorbid pervasive developmental disorder show many catatonic features in childhood whereas those without one seem to develop these features first in adolescence. Catatonic features exhibited by adolescents with schizophrenia resemble those described among persons with pervasive developmental disorders without schizophrenia. PMID:24914405

Catatonic features in adolescents with schizophrenia with and without a comorbid pervasive developmental disorder.

PubMed

Waris, Petra; Lindberg, Nina; Kettunen, Kirsi; Lipsanen, Jari; Tani, Pekka

2014-01-01

Catatonia has been associated with both schizophrenia and pervasive developmental disorders. The aim of this study was to evaluate catatonic features among adolescents suffering from schizophrenia. Further, we compared these features between adolescents with a comorbid pervasive developmental disorder and those without one. Finally, we wanted to compare the profile of catatonia-like features of our schizophrenia patients to that described earlier among persons with autism spectrum disorders. The study comprised a consecutive sample of 18 adolescents with schizophrenia (mean age 15.6 years, SD 1.4) and their families. Diagnosis of schizophrenia was assessed with the Schedule for Affective Disorders and Schizophrenia for School-Aged Children - Present and Life-Time (K-SADS-PL) for the DSM-IV. The Diagnostic Interview for Social and Communication Disorders version 11 was used to assess catatonic features. All adolescents with schizophrenia had showed some lifetime catatonic features. Approximately 78% of them had already expressed these features before the age of 10. The number of catatonic features before the age of 10 was significantly higher among the adolescents with a comorbid pervasive developmental disorder compared to those without one. The numbers of catatonic features after the age of 10 did not significantly differ between the two groups. Over three-quarters of schizophrenia patients shared four lifetime catatonic features: "lacks facial expression", "odd intonation", "poor eye contact" and "lack of cooperation". Adolescent schizophrenia patients with a comorbid pervasive developmental disorder show many catatonic features in childhood whereas those without one seem to develop these features first in adolescence. Catatonic features exhibited by adolescents with schizophrenia resemble those described among persons with pervasive developmental disorders without schizophrenia.

Stability of Motor Problems in Young Children with or at Risk of Autism Spectrum Disorders, ADHD, and or Developmental Coordination Disorder

ERIC Educational Resources Information Center

van Waelvelde, Hilde; Oostra, Ann; DeWitte, Griet; van den Broeck, Christine; Jongmans, Marian J.

2010-01-01

Aim: The aim of this study was to investigate the stability of motor problems in a clinically referred sample of children with, or at risk of, autism spectrum disorders (ASDs), attention-deficit-hyperactivity disorder (ADHD), and/or developmental coordination disorder (DCD). Method: Participants were 49 children (39 males, 10 females; mean age 5y…

Procedural learning in Parkinson's disease, specific language impairment, dyslexia, schizophrenia, developmental coordination disorder, and autism spectrum disorders: A second-order meta-analysis.

PubMed

Clark, Gillian M; Lum, Jarrad A G

2017-10-01

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.

Large-scale discovery of novel genetic causes of developmental disorders.

PubMed

2015-03-12

Despite three decades of successful, predominantly phenotype-driven discovery of the genetic causes of monogenic disorders, up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis. Particularly challenging are those disorders rare enough to have eluded recognition as a discrete clinical entity, those with highly variable clinical manifestations, and those that are difficult to distinguish from other, very similar, disorders. Here we demonstrate the power of using an unbiased genotype-driven approach to identify subsets of patients with similar disorders. By studying 1,133 children with severe, undiagnosed developmental disorders, and their parents, using a combination of exome sequencing and array-based detection of chromosomal rearrangements, we discovered 12 novel genes associated with developmental disorders. These newly implicated genes increase by 10% (from 28% to 31%) the proportion of children that could be diagnosed. Clustering of missense mutations in six of these newly implicated genes suggests that normal development is being perturbed by an activating or dominant-negative mechanism. Our findings demonstrate the value of adopting a comprehensive strategy, both genome-wide and nationwide, to elucidate the underlying causes of rare genetic disorders.

Epigenetic age analysis of children who seem to evade aging.

PubMed

Walker, Richard F; Liu, Jia Sophie; Peters, Brock A; Ritz, Beate R; Wu, Timothy; Ophoff, Roel A; Horvath, Steve

2015-05-01

We previously reported the unusual case of a teenage girl stricken with multifocal developmental dysfunctions whose physical development was dramatically delayed resulting in her appearing to be a toddler or at best a preschooler, even unto the occasion of her death at the age of 20 years. Her life-long physician felt that the disorder was unique in the world and that future treatments for age-related diseases might emerge from its study. The objectives of our research were to determine if other such cases exist, and if so, whether aging is actually slowed. Of seven children characterized by dramatically slow developmental rates, five also had associated disorders displayed by the first case. All of the identified subjects were female. To objectively measure the age of blood tissue from these subjects, we used a highly accurate biomarker of aging known as "epigenetic clock" based on DNA methylation levels. No statistically significant differences in chronological and epigenetic ages were detected in any of the newly discovered cases.

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

PubMed Central

Halgren, Christina; Bache, Iben; Bak, Mads; Myatt, Mikkel Wanting; Anderson, Claire Marie; Brøndum-Nielsen, Karen; Tommerup, Niels

2012-01-01

Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes 12 and 18, with borderline IQ, developmental and behavioral disorders, myopia, obesity, and febrile seizures in childhood. We characterized the rearrangement with Affymetrix SNP 6.0 Array analysis and next-generation mate pair sequencing and found truncation of CELF4 at 18q12.2. This second report of a patient with a neurodevelopmental phenotype and a translocation involving CELF4 supports that CELF4 is responsible for the phenotype associated with deletion of 18q12.2. Our study illustrates the utility of high-resolution genome-wide techniques in identifying neurodevelopmental and neurobehavioral genes, and it adds to the growing evidence, including a transgenic mouse model, that CELF4 is important for human brain development. PMID:22617346

Oxytocin, vasopressin, and autism: is there a connection?

PubMed

Insel, T R; O'Brien, D J; Leckman, J F

1999-01-15

Autism is a poorly understood developmental disorder characterized by social impairment, communication deficits, and compulsive behavior. The authors review evidence from animal studies demonstrating that the nonapeptides, oxytocin and vasopressin, have unique effects on the normal expression of species-typical social behavior, communication, and rituals. Based on this evidence, they hypothesize that an abnormality in oxytocin or vasopressin neurotransmission may account for several features of autism. As autism appears to be a genetic disorder, mutations in the various peptide, peptide receptor, or lineage-specific developmental genes could lead to altered oxytocin or vasopressin neurotransmission. Many of these genes have been cloned and sequenced, and several polymorphisms have been identified. Recent gene targeting studies that alter expression of either the peptides or their receptors in the rodent brain partially support the autism hypothesis. While previous experience suggests caution in hypothesizing a cause or suggesting a treatment for autism, the available preclinical evidence with oxytocin and vasopressin recommends the need for clinical studies using gene scanning, pharmacological and neurobiological approaches.

Developmental stress elicits preference for methamphetamine in the spontaneously hypertensive rat model of attention-deficit/hyperactivity disorder.

PubMed

Womersley, Jacqueline S; Mpeta, Bafokeng; Dimatelis, Jacqueline J; Kellaway, Lauriston A; Stein, Dan J; Russell, Vivienne A

2016-06-17

Developmental stress has been hypothesised to interact with genetic predisposition to increase the risk of developing substance use disorders. Here we have investigated the effects of maternal separation-induced developmental stress using a behavioural proxy of methamphetamine preference in an animal model of attention-deficit/hyperactivity disorder, the spontaneously hypertensive rat, versus Wistar Kyoto and Sprague-Dawley comparator strains. Analysis of results obtained using a conditioned place preference paradigm revealed a significant strain × stress interaction with maternal separation inducing preference for the methamphetamine-associated compartment in spontaneously hypertensive rats. Maternal separation increased behavioural sensitization to the locomotor-stimulatory effects of methamphetamine in both spontaneously hypertensive and Sprague-Dawley strains but not in Wistar Kyoto rats. Our findings indicate that developmental stress in a genetic rat model of attention-deficit/hyperactivity disorder may foster a vulnerability to the development of substance use disorders.

Evidence to Practice Commentary: New Evidence in Developmental Coordination Disorder (DCD)

ERIC Educational Resources Information Center

Novak, Iona

2013-01-01

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…

Influence of Methylphenidate on Motor Performance and Attention in Children with Developmental Coordination Disorder and Attention Deficit Hyperactive Disorder

ERIC Educational Resources Information Center

Bart, Orit; Daniel, Liron; Dan, Orrie; Bar-Haim, Yair

2013-01-01

Individuals with attention deficit hyperactive disorder (ADHD) often have coexisting developmental coordination disorder (DCD). The positive therapeutic effect of methylphenidate on ADHD symptoms is well documented, but its effects on motor coordination are less studied. We assessed the influence of methylphenidate on motor performance in children…

Common and Unique Impairments in Facial-Expression Recognition in Pervasive Developmental Disorder-Not Otherwise Specified and Asperger's Disorder

ERIC Educational Resources Information Center

Uono, Shota; Sato, Wataru; Toichi, Motomi

2013-01-01

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…

Parents' Strategies to Elicit Autobiographical Memories in Autism Spectrum Disorders, Developmental Language Disorders and Typically Developing Children

ERIC Educational Resources Information Center

Goldman, Sylvie; DeNigris, Danielle

2015-01-01

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,…

CAPs-IDD: Characteristics of Assessment Instruments for Psychiatric Disorders in Persons with Intellectual Developmental Disorders

ERIC Educational Resources Information Center

Zeilinger, E. L.; Nader, I. W.; Brehmer-Rinderer, B.; Koller, I.; Weber, G.

2013-01-01

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…

Metapragmatic Explicitation and Social Attribution in Social Communication Disorder and Developmental Language Disorder: A Comparative Study

ERIC Educational Resources Information Center

Adams, Catherine; Lockton, Elaine; Collins, Anna

2018-01-01

Purpose: The purposes of this study are to investigate metapragmatic (MP) ability in 6-11-year-old children with social communication disorder (SCD), developmental language disorder (DLD), and typical language development and to explore factors associated with MP explicitation and social understanding (SU). Method: In this cross-sectional study,…

Evaluating Physical Activity Using Accelerometry in Children at Risk of Developmental Coordination Disorder in the Presence of Attention Deficit Hyperactivity Disorder

ERIC Educational Resources Information Center

Baerg, Sally; Cairney, John; Hay, John; Rempel, Lynn; Mahlberg, Nadilein; Faught, Brent E.

2011-01-01

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…

SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder.

PubMed

Byrne, Susan; Dlamini, Nomazulu; Lumsden, Daniel; Pitt, Matthew; Zaharieva, Irina; Muntoni, Francesco; King, Andrew; Robert, Leema; Jungbluth, Heinz

2015-07-01

Marinesco-Sjoegren syndrome (MSS) is a recessively inherited multisystem disorder caused by mutations in SIL1 and characterized by cerebellar atrophy with ataxia, cataracts, a skeletal muscle myopathy, and variable degrees of developmental delay. Pathogenic mechanisms implicated to date include mitochondrial, nuclear envelope and lysosomal-autophagic pathway abnormalities. Here we present a 5-year-old girl with SIL1-related MSS and additional unusual features of an associated motor neuronopathy and a bradykinetic movement disorder preceding the onset of ataxia. These findings suggest that an associated motor neuronopathy may be part of the phenotypical spectrum of SIL1-related MSS and should be actively investigated in genetically confirmed cases. The additional observation of a bradykinetic movement disorder suggests an intriguing continuum between neurodevelopmental and neurodegenerative multisystem disorders intricately linked in the same cellular pathways. Copyright © 2015 Elsevier B.V. All rights reserved.

[Joubert syndrome and related disorders].

PubMed

Paprocka, Justyna; Jamroz, Ewa

2012-01-01

The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background.

[Hand and finger anomalous developmental coordination to write in children with attention deficit/hyperactivity syndrome].

PubMed

Pascual-Castroviejo, I; Lobo-Llorente, A

To present a developmental coordination disorder in children with attention deficit/hyperactivity syndrome (ADHS) characterized by anomalous handwriting posture of hands and fingers. Forty-five children who presented with ADHS were studied (39 males and 6 females) with ages ranging from 6 to 16 years (average 10.8 years) and an analysis of the position of the hands and fingers during handwriting was made within the context of a complete neurological evaluation. Only 2 of the 6 hyperactive patients showed a discrete anomalous posture of the fingers, with normality in the other four patients. Seventeen of the 25 children (68%) with ADHS combined type showed poor posture of the fingers when writing. Among the 14 children with ADHS attention deficit type, 8 had abnormal posture when using a pencil, and 4 had shown the problem several years before consulting, and the problem had disappeared after local orthopedic treatment. All 4 left-handed children (3 females and 1 male) presented abnormal posture of the fingers when writing. Evaluation of the anomalous posture of the fingers when writing of patients with ADHS is a test that we commonly use because it is easy to do, the patients collaborate very well to do it and uncovers very early the developmental coordination disorder. The anomalous posture is associated with other coordination disorders and problems of muscular tone such as splay-foot, genu recurvatum, problems with jumping, walking on one foot, etc. in most patients.

Pervasive developmental disorders among children and adolescents attending psychiatric day treatment.

PubMed

Sverd, Jeffrey; Dubey, Dennis R; Schweitzer, Robert; Ninan, Remani

2003-11-01

This study sought to determine the prevalence of pervasive developmental disorders (PDD) among children admitted to a state hospital day treatment service and to characterize the psychiatric disturbance of patients with PDD. A total of 146 consecutively admitted patients were evaluated for PDD. Patients who had PDD were compared with a sample of age- and sex-matched patients in day treatment who did not have PDD. Psychiatric symptoms, family history, and developmental and educational histories were examined. Of the 146 patients, 20 (14 percent) met criteria for PDD. An additional five patients who had PDD were included, yielding a final sample of 25. Only two of an array of psychiatric symptoms were more prevalent among patients with PDD: engaging in unusual fantasy and talking to themselves, animals, or inanimate objects. Significantly more patients with PDD had a history of speech delay, language abnormalities, and inexplicable or lengthy episodes of crying or screaming. The groups did not differ significantly in IQ or global functioning. Seven patients with PDD (28 percent) met criteria for childhood-onset schizophrenia, and 19 (76 percent) had symptoms of a tic disorder. The study found that PDD is not rare and that children with PDD represent a significant subgroup of children with serious emotional disturbance referred for psychiatric treatment. The findings support the view that PDD may be easily missed because it may be mild and associated with psychiatric disturbances that are present among other severely ill youngsters.

High-Frequency EEG Variations in Children with Autism Spectrum Disorder during Human Faces Visualization

PubMed Central

Reategui, Camille; Costa, Bruna Karen de Sousa; da Fonseca, Caio Queiroz; da Silva, Luana; Morya, Edgard

2017-01-01

Autism spectrum disorder (ASD) is a neuropsychiatric disorder characterized by the impairment in the social reciprocity, interaction/language, and behavior, with stereotypes and signs of sensory function deficits. Electroencephalography (EEG) is a well-established and noninvasive tool for neurophysiological characterization and monitoring of the brain electrical activity, able to identify abnormalities related to frequency range, connectivity, and lateralization of brain functions. This research aims to evidence quantitative differences in the frequency spectrum pattern between EEG signals of children with and without ASD during visualization of human faces in three different expressions: neutral, happy, and angry. Quantitative clinical evaluations, neuropsychological evaluation, and EEG of children with and without ASD were analyzed paired by age and gender. The results showed stronger activation in higher frequencies (above 30 Hz) in frontal, central, parietal, and occipital regions in the ASD group. This pattern of activation may correlate with developmental characteristics in the children with ASD. PMID:29018811

Practitioner Review: Early Adversity and Developmental Disorders

ERIC Educational Resources Information Center

Taylor, Eric; Rogers, Jody Warner

2005-01-01

Background: Knowledge of genetic influences, on developmental disorders such as autism spectrum, attention deficit/hyperactivity disorder and learning disabilities, has increased the opportunities for understanding the influences of the early environment. Methods: This paper provides a selective, narrative review for clinicians of the effects of…

Comorbidities in Preschool Children at Family Risk of Dyslexia

ERIC Educational Resources Information Center

Gooch, Debbie; Hulme, Charles; Nash, Hannah M.; Snowling, Margaret J.

2014-01-01

Background: Comorbidity among developmental disorders such as dyslexia, language impairment, attention deficit/hyperactivity disorder and developmental coordination disorder is common. This study explores comorbid weaknesses in preschool children at family risk of dyslexia with and without language impairment and considers the role that…

[Review of assessment methods used to evaluate feeding for children with pervasive developmental disorder].

PubMed

Nadon, G; Ehrmann Feldman, D; Gisel, E

2008-08-01

Current evaluations used by occupational therapists to assess and treat feeding problems derive mainly from the domain of dysphagia. The purpose of this article is to familiarize the reader with tools used, in research, for children with pervasive developmental disorders (PDD) and to determine if any of these meet the needs of occupational therapists. The following data bases were searched: Medline, CINAHL, HAPI and PsyINFO, using the terms pervasive developmental disorder, autism, Asperger syndrome, pervasive developmental disorder not otherwise specified, eating behavior, eating disorder, food preference, food selectivity, feeding disorders, picky eater and child. All articles published between 1980 and 2006 (n=27) were reviewed. A total of 20 studies met our selection criteria. Assessment methods are compared using the Disability Creation Model (DCP). The DCP is the Quebec alternative to the International Classification of Functioning, Disability and Health (ICF). None of the evaluation tools reviewed met all factors that may influence eating in children with PDD. Implications for research and practice in occupational therapy are discussed.

Developmental disorders of the female genital tract

MedlinePlus

... vagina, ovaries, uterus, and cervix; Developmental disorder of female reproductive tract ... CARES Foundation -- www.caresfoundation.org Congenital Adrenal Hyperplasia Education and Support Network -- www.congenitaladrenalhyperplasia.org DES Action ...

[Developmental disorders in children and adolescents of the Los Ríos region, Valdivia, Chile, 2006-2008].

PubMed

Guzmán C, Maria L; Guzmán C, Sergio F; Guzmán, Maria E; Marín, Fransisco; Remolcois, Elisabeth; Gallardo, Andrés; Rozas, Néstor; Urra, Edmundo; Rojas, Fabián

2015-01-01

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.

The Study to Explore Early Development (SEED): A Multisite Epidemiologic Study of Autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network

PubMed Central

Schendel, Diana; DiGuiseppi, Carolyn; Croen, Lisa; Fallin, M Danielle; Reed, Philip L.; Schieve, Laura; Wiggins, Lisa; Daniels, Julie; Grether, Judith; Levy, Susan; Miller, Lisa; Newschaffer, Craig; Pinto-Martin, Jennifer; Robinson, Cordelia; Windham, Gayle; Alexander, Aimee; Aylsworth, Arthur; Bernal, Pilar; Bonner, Joseph D.; Blaskey, Lisa; Bradley, Chyrise; Collins, Jack; Ferretti, Casara; Farzadegan, Homayoon; Giarelli, Ellen; Harvey, Marques; Hepburn, Susan; Herr, Matthew; Kaparich, Kristina; Landa, Rebecca; Lee, Li-Ching; Levenseller, Brooke; Meyerer, Stacey; Rahbar, Mohammad H.; Ratchford, Andria; Reynolds, Ann; Rosenberg, Steve; Rusyniak, Julie; Shapira, Stuart K.; Smith, Karen; Souders, Margaret; AaronThompson, Patrick; Young, Lisa; Yeargin-Allsopp, Marshalyn

2015-01-01

The Study to Explore Early Development (SEED), a multisite investigation addressing knowledge gaps in autism phenotype and etiology, aims to: (1) characterize the autism behavioral phenotype and associated developmental, medical, and behavioral conditions and (2) investigate genetic and environmental risks with emphasis on immunologic, hormonal, gastrointestinal, and sociodemographic characteristics. SEED uses a case–control design with population-based ascertainment of children aged 2–5 years with an autism spectrum disorder (ASD) and children in two control groups—one from the general population and one with non-ASD developmental problems. Data from parent-completed questionnaires, interviews, clinical evaluations, biospecimen sampling, and medical record abstraction focus on the prenatal and early postnatal periods. SEED is a valuable resource for testing hypotheses regarding ASD characteristics and causes. PMID:22350336

Identifying Twice-Exceptional Children and Three Gifted Styles in the Japanese Primary Science Classroom

NASA Astrophysics Data System (ADS)

Sumida, Manabu

2010-10-01

Children with mild developmental disorders sometimes show giftedness. In this study, an original checklist was developed to identify gifted characteristics specific to science learning among twice-exceptional primary school children in Japan. The checklist consisted of 60 items on Attitudes, Thinking, Skills, and Knowledge/Understanding. A total of 86 children from eight primary schools in an urban area in Japan, 50% of whom had Learning Disabilities (LD), Attention Deficit/Hyperactivity Disorder (ADHD), and/or High-functioning Autism (HA), were observed using the checklist. Factor analysis revealed three factors. A cluster analysis with the subscale points of each factor identified three "gifted styles" in science. These were: (1) Spontaneous Style; (2) Expert Style; and (3) Solid Style. LD/ADHD/HA children characteristically displayed a Spontaneous Style while the non- LD/ADHD/HA children were characterized by the Solid Style. In both subject groups, the number of Expert Style children was the lowest with no significant difference in their numbers. Based on the results of this research, this paper discusses the implications of the findings for teaching science to twice-exceptional children and argues the benefits of inclusive science education for children with and without mild developmental disorders.

The neglected role of positive emotion in adolescent psychopathology.

PubMed

Gilbert, Kirsten E

2012-08-01

Adolescence is a developmental period characterized by elevated stress, heightened risky behaviors, and increases in psychopathology. Emotion dysregulation is a hypothesized contributor to negative outcomes and to the onset of psychopathology during adolescence. However, the dysregulation of negative emotion has been the focus of research while the literature on positive emotion in adolescent psychopathology is limited. This review highlights both the development of normative and dysregulated positive emotion during adolescence. First, the literature on normative adolescent emotional development and on negative emotional regulation is briefly reviewed, followed by a discussion of current theories of positive emotion, which are grounded in the adult literature. From a developmental perspective, the dimension of approach motivation within positive emotion is emphasized throughout and frames the review. This conceptualization guides organization of literatures on normative experiences of positive emotion in adolescence and the role of dysregulated positive emotion in adolescent psychopathology, specifically adolescent depression, anxiety, bipolar disorder, externalizing disorders and eating disorders. Last, future directions in the study of adolescent positive emotion and its regulation and the implications of highlighting approach motivation in normative and dysregulated positive emotion in adolescence are detailed. Copyright © 2012 Elsevier Ltd. All rights reserved.

A Developmental Perspective on Assessment of Infants with Clefts and Related Disorders.

ERIC Educational Resources Information Center

Savage, Hallie E.; And Others

1994-01-01

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.…

A Trajectory of Troubles: Parents' Impressions of the Impact of Developmental Coordination Disorder

ERIC Educational Resources Information Center

Missiuna, Cheryl; Moll, Sandra; King, Susanne; King, Gillian; Law, Mary

2007-01-01

Objective: To explore parent perspectives regarding the early experiences of their children with Developmental Coordination Disorder (DCD). Methods: A phenomenological approach was used to explore the meaning of developmental experiences for children with DCD and their families. Parents of 13 children with DCD, aged 6-14, were recruited through…

School climate and continuity of adolescent personality disorder symptoms.

PubMed

Kasen, Stephanie; Cohen, Patricia; Chen, Henian; Johnson, Jeffrey G; Crawford, Thomas N

2009-12-01

Schools are key social contexts for shaping development and behavior in youths; yet, little is known of their influence on adolescent personality disturbance. A community-based sample of 592 adolescents was assessed for family and school experiences, Axis I psychiatric disorders, and Axis II personality disorder (PD) symptoms, and followed into young adulthood. Multiple regression analysis was used to estimate associations between adolescent-reported school climate and young adult PD symptoms independent of age, sex, family socioeconomic status; childhood maltreatment; Axis I disorder, PD symptoms, academic grades, and parental punishment in adolescence; and four dimensions of school climate. Schools characterized as high in learning focus were related to cluster B (antisocial, borderline, histrionic, and narcissistic PD) symptom declines, whereas schools characterized as high in opportunities for student autonomy were related to cluster A (paranoid, schizoid, and schizotypal PD) symptom declines. In contrast, schools characterized as conflictual or supporting interpersonal informality/familiarity among students and teachers were related to increases in cluster A symptoms and cluster C (avoidant, dependent, and obsessive-compulsive PD) symptoms. Schools may exert both positive and negative influences on continuity of adolescent personality disturbance. The role of the school in guiding young people toward more favorable developmental pathways and alleviating personality disturbance is discussed.

Child Development

MedlinePlus

... ARTICLES Scientific articles. RESEARCH Legacy for Children™ study. Child Development: What's New Article: Differences in health care, family, ... Disorders, Learning Disorders, and other developmental conditions. ... Development Basics Early Brain Development Developmental Screening Screening for ...

Autism Spectrum Disorders: A Natural Fit with DDD.

ERIC Educational Resources Information Center

Myles, Brenda Smith; Simpson, Richard L.; Babkie, Andrea M.

2003-01-01

This position statement from the Critical Issues Committee of the Developmental Disabilities Division of the Council for Exceptional Children focuses on clarifying the place of autism spectrum disorders within the field of developmental disabilities. The representation of concerns relating to autism spectrum disorders by the Developmental…

Landau-Kleffner Syndrome

MedlinePlus

... difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/ ... difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/ ...

Developmental Dyspraxia

MedlinePlus

... disorder may be of average or above average intelligence, they may behave immaturely. × Definition Developmental dyspraxia is ... disorder may be of average or above average intelligence, they may behave immaturely. View Full Definition Treatment ...

[Specific developmental disorder of speech and language in adulthood].

PubMed

Vlassopoulos, M; Anagnostopoulos, D C

2012-06-01

Specific developmental disorder of speech and language is part of a more general category of neurodevelopmental disorders, which is encountered in 7-10% of the childhood population. These children exhibit a significant impairment in speech and language development, which cannot be justified by hearing impairment, cognitive impairment, neuromuscular or orofacial disorders, as well as by emotional or environmental factors. Specific developmental disorders of speech and language are often comorbid with other neurodevelopmental disorders, such as motor coordination disorder and ADHD. These disorders are usually detected in early childhood and commonly treated during the preschool and school years. Despite this fact clinical and empirical evidence suggest that often these disorders persist beyond the school years, even though the symptomatology may be differentiated. In this literature review, we address the question of whether specific developmental language disorders are encountered only during childhood, and, if they persist, how they are manifested in adulthood. Finally, possible factors which may lead to these manifestations are analyzed. A considerable body of research has shown that even though the symptoms of children with specific developmental language disorders are resolved before the end of childhood, a significant part of this population continues to have persisting difficulties through adolescence and into adulthood. The continuity of this disorder may sometimes be directly linked to language disorder, as in the case of learning impairments or, on the other hand, symptoms may be related with those of conduct disorders, social adjustment disorder, emotional and psychiatric disorders in adolescence and adulthood. It therefore appears that specific developmental language disorder is often an early symptom of other disorders in the future. Even though the precise mechanisms which are responsible for these disorders are not yet known, it is possible that a fragile neurobiological substratum in these disorders may explain why early symptoms are usually manifested as language disorders and later develop into other disorders over time. However, these symptom changes may be linked to other parameters, such as the increasing social and emotional demands made on these individuals with increasing age, which may be a contributing environmental parameter to an already vulnerable system. Despite all of the limitations in the longterm study of these children, it is suggested that in some way, and not in all cases, pathology may continue into adulthood, although with a different symptomatology, which is linked to behavioural and social adjustment, as well as with more pervasive psychiatric disorders. In conclusion, it is suggested that a continuum of services may be necessary for these cases into adulthood.

Autism Spectrum Disorder: Primary Care Principles.

PubMed

Sanchack, Kristian E; Thomas, Craig A

2016-12-15

Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.

Determining Differences in Social Cognition between High-Functioning Autistic Disorder and Other Pervasive Developmental Disorders Using New Advanced "Mind-Reading" Tasks

ERIC Educational Resources Information Center

Kuroda, Miho; Wakabayashi, Akio; Uchiyama, Tokio; Yoshida, Yuko; Koyama, Tomonori; Kamio, Yoko

2011-01-01

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…

Psychometric Characteristics of a Measure of Emotional Dispositions Developed to Test a Developmental Propensity Model of Conduct Disorder

ERIC Educational Resources Information Center

Lahey, Benjamin B.; Applegate, Brooks; Chronis, Andrea M.; Jones, Heather A.; Williams, Stephanie Hall; Loney, Jan; Waldman, Irwin D.

2008-01-01

Lahey and Waldman proposed a developmental propensity model in which three dimensions of children's emotional dispositions are hypothesized to transact with the environment to influence risk for conduct disorder, heterogeneity in conduct disorder, and comorbidity with other disorders. To prepare for future tests of this model, a new measure of…

Systematic Review and Meta-Analysis of Pharmacological Treatment of the Symptoms of Attention-Deficit/Hyperactivity Disorder in Children with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Reichow, Brian; Volkmar, Fred R.; Bloch, Michael H.

2013-01-01

Many children with pervasive developmental disorders (PDD) exhibit behaviors and symptoms of attention-deficit/hyperactivity disorder (ADHD). We sought to determine the relative efficacy of medications for treating ADHD symptoms in children with PDD by identifying all double-blind, randomized, placebo-controlled trials examining the efficacy of…

DSM-V diagnostic criteria for bereavement-related disorders in children and adolescents: developmental considerations.

PubMed

Kaplow, Julie B; Layne, Christopher M; Pynoos, Robert S; Cohen, Judith A; Lieberman, Alicia

2012-01-01

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.

Toward a Neuroscience of Adult Cognitive Developmental Theory.

PubMed

Girgis, Fady; Lee, Darrin J; Goodarzi, Amir; Ditterich, Jochen

2018-01-01

Piaget's genetic epistemology has provided the constructivist approach upon which child developmental theories were founded, in that infants are thought to progress through distinct cognitive stages until they reach maturity in their early 20's. However, it is now well established that cognition continues to develop after early adulthood, and several "neo-Piagetian" theories have emerged in an attempt to better characterize adult cognitive development. For example, Kegan's Constructive Developmental Theory (CDT) argues that the thought processes used by adults to construct their reality change over time, and reaching higher stages of cognitive development entails becoming objectively aware of emotions and beliefs that were previously in the realm of the subconscious. In recent years, neuroscience has shown a growing interest in the biological substrates and neural mechanisms encompassing adult cognitive development, because psychological and psychiatric disorders can arise from deficiencies therein. In this article, we will use Kegan's CDT as a framework to discuss adult cognitive development in relation to closely correlated existing constructs underlying social processing, such as the perception of self and others. We will review the functional imaging and electrophysiologic evidence behind two key concepts relating to these posited developmental changes. These include self-related processing, a field that distinguishes between having conscious experiences ("being a self") and being aware of oneself having conscious experiences ("being aware of being a self"); and theory of mind, which is the objective awareness of possessing mental states such as beliefs and desires (i.e., having a "mind") and the understanding that others possess mental states that can be different from one's own. We shall see that cortical midline structures, including the medial prefrontal cortex and cingulate gyrus, as well as the temporal lobe, are associated with psychological tasks that test these models. In addition, we will review computational modeling approaches to cognitive development, and show how mathematical modeling can provide insights into how sometimes continuous changes in the neural processing substrate can give rise to relatively discrete developmental stages. Because deficiencies in adult cognitive development can result in disorders such as autism and depression, bridging the gaps between developmental psychology, neuroscience, and modeling has potential implications for clinical practice. As neuromodulation techniques such as deep brain and transcranial stimulation continue to advance, interfacing with these systems may lead to the emergence of novel investigational methods and therapeutic strategies in adults suffering from developmental disorders.

ADHD and Comorbid Developmental Coordination Disorder: Implications and Recommendations for School Psychologists

ERIC Educational Resources Information Center

Lange, Stephen M.

2018-01-01

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…

Predictors and Moderators of Psychological Distress in Mothers of Children with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Tobing, Lauren E.; Glenwick, David S.

2006-01-01

This study explored potential predictors of psychological distress and moderators of the relation between parenting stress and psychological distress in mothers of children with pervasive developmental disorders (PDDs). Ninety-seven mothers of children diagnosed with autism spectrum disorders completed measures assessing children's functional…

Brief Report: Pervasive Developmental Disorder Can Evolve into ADHD--Case Illustrations

ERIC Educational Resources Information Center

Fein, Deborah; Dixon, Pamela; Paul, Jennifer; Levin, Harriet

2005-01-01

Despite prominent attentional symptoms in Pervasive Developmental Disorders (PDD) the relationship between PDD and Attention Deficit Hyperactivity Disorder (ADHD) has received little direct examination. In addition, outcome studies of children with PDD often focus on language, educational placement, or adaptive skills, but seldom on loss of the…

Fragmented Visuospatial Processing in Children with Pervasive Developmental Disorder

ERIC Educational Resources Information Center

Schlooz, Wim A. J. M.; Hulstijn, Wouter; van den Broek, Pieter J. A.; van der Pijll, Angela C. A. M.; Gabreels, Fons; van der Gaag, Rutger J.; Rotteveel, Jan J.

2006-01-01

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 Children's Embedded Figure Test (CEFT)] and a…

A Psychiatric Primer for Programs Serving People with Developmental Disabilities. Monograph #101.

ERIC Educational Resources Information Center

Dal Pozzo, Earlene; Bernstein, Gail S.

Intended for personnel in programs serving persons with developmental disabilities, the booklet provides basic information about the major psychiatric disorders and their treatment. Five sections cover: the major disorders; medications--uses and problems; assessment; cooordination of services; and psychiatric emergencies. Major disorders such as…

Gastrostomy Tube Feeding in Children With Developmental or Acquired Disorders: A Longitudinal Comparison on Healthcare Provision and Eating Outcomes 4 Years After Gastrostomy.

PubMed

Backman, Ellen; Karlsson, Ann-Kristin; Sjögreen, Lotta

2018-03-30

Studies on long-term feeding and eating outcomes in children requiring gastrostomy tube feeding (GT) are scarce. The aim of this study was to describe children with developmental or acquired disorders receiving GT and to compare longitudinal eating and feeding outcomes. A secondary aim was to explore healthcare provision related to eating and feeding. This retrospective cohort study reviewed medical records of children in 1 administrative region of Sweden with GT placement between 2005 and 2012. Patient demographics, primary diagnoses, age at GT placement, and professional healthcare contacts prior to and after GT placement were recorded and compared. Feeding and eating outcomes were assessed 4 years after GT placement. The medical records of 51 children, 28 boys and 23 girls, were analyzed and grouped according to "acquired" (n = 13) or "developmental" (n = 38) primary diagnoses. At 4 years after GT placement, 67% were still using GT. Only 6 of 37 (16%) children with developmental disorders transferred to eating all orally, as opposed to 10 of 11 (91%) children with acquired disorders. Children with developmental disorders were younger at the time of GT placement and displayed a longer duration of GT activity when compared with children with acquired disorders. This study demonstrates a clear difference between children with developmental or acquired disorders in duration of GT activity and age at GT placement. The study further shows that healthcare provided to children with GT is in some cases multidisciplinary, but primarily focuses on feeding rather than eating. © 2018 American Society for Parenteral and Enteral Nutrition.

DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD DC:0-5: SELECTIVE REVIEWS FROM A NEW NOSOLOGY FOR EARLY CHILDHOOD PSYCHOPATHOLOGY.

PubMed

Zeanah, Charles H; Carter, Alice S; Cohen, Julie; Egger, Helen; Gleason, Mary Margaret; Keren, Miri; Lieberman, Alicia; Mulrooney, Kathleen; Oser, Cindy

2016-09-01

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.

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

PubMed

Iacomino, Michele; Fiorillo, Chiara; Torella, Annalaura; Severino, Mariasavina; Broda, Paolo; Romano, Catia; Falsaperla, Raffaele; Pozzolini, Giulia; Minetti, Carlo; Striano, Pasquale; Nigro, Vincenzo; Zara, Federico

2018-05-01

In the last few years, whole exome sequencing (WES) allowed the identification of PRUNE mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brain or cerebellar atrophy. We describe an additional patient with homozygous PRUNE mutation who presented with spinal muscular atrophy phenotype, in addition to the already known brain developmental disorder. This novel feature expands the clinical consequences of PRUNE mutations and allow to converge PRUNE syndrome with previous descriptions of neurodevelopmental/neurodegenerative disorders linked to altered microtubule dynamics. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Fanconi anemia: a disorder defective in the DNA damage response.

PubMed

Kitao, Hiroyuki; Takata, Minoru

2011-04-01

Fanconi anemia (FA) is a cancer predisposition disorder characterized by progressive bone marrow failure, congenital developmental defects, chromosomal abnormalities, and cellular hypersensitivity to DNA interstrand crosslink (ICL) agents. So far mutations in 14 FANC genes were identified in FA or FA-like patients. These gene products constitute a common ubiquitin-phosphorylation network called the "FA pathway" and cooperate with other proteins involved in DNA repair and cell cycle control to repair ICL lesions and to maintain genome stability. In this review, we summarize recent exciting discoveries that have expanded our view of the molecular mechanisms operating in DNA repair and DNA damage signaling.

Gesture Production in School vs. Clinical Samples of Children with Developmental Coordination Disorder (DCD) and Typically Developing Children

ERIC Educational Resources Information Center

Sinani, Charikleia; Sugden, David A.; Hill, Elisabeth L.

2011-01-01

Dyspraxia, a difficulty in executing an operationalised act, has been associated with Developmental Coordination Disorder (DCD). However, issues relating to the area such as comparisons across modalities, comparisons of school vs. clinical populations, and developmental delay vs. pathology have not been addressed in the same, comprehensive study.…

Developmental coordination disorder

MedlinePlus

Physical causes and other types of learning disabilities must be ruled out before the diagnosis can be confirmed. ... Elsevier; 2016:chap 90. Szklut SE, Philibert DB. Learning disabilities and developmental coordination disorder. In: Umphred DA, Burton ...

Developmental quotient to estimate intelligence in autism spectrum disorder.

PubMed

Kawabe, Kentaro; Kondo, Shizuka; Matsumoto, Miki; Seo, Kanae; Ochi, Marina; Oka, Yasunori; Horiuchi, Fumie; Ueno, Shu-Ichi

2016-10-01

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, R 2 = 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.

Developmental Neurotoxicity of Traffic-Related Air Pollution: Focus on Autism.

PubMed

Costa, Lucio G; Chang, Yu-Chi; Cole, Toby B

2017-06-01

Epidemiological and animal studies suggest that air pollution may negatively affect the central nervous system (CNS) and contribute to CNS diseases. Traffic-related air pollution is a major contributor to global air pollution, and diesel exhaust (DE) is its most important component. Several studies suggest that young individuals may be particularly susceptible to air pollution-induced neurotoxicity and that perinatal exposure may cause or contribute to developmental disabilities and behavioral abnormalities. In particular, a number of recent studies have found associations between exposures to traffic-related air pollution and autism spectrum disorders (ASD), which are characterized by impairment in socialization and in communication and by the presence of repetitive and unusual behaviors. The cause(s) of ASD are unknown, and while it may have a hereditary component, environmental factors are increasingly suspected as playing a pivotal role in its etiology, particularly in genetically susceptible individuals. Autistic children present higher levels of neuroinflammation and systemic inflammation, which are also hallmarks of exposure to traffic-related air pollution. Gene-environment interactions may play a relevant role in determining individual susceptibility to air pollution developmental neurotoxicity. Given the worldwide presence of elevated air pollution, studies on its effects and mechanisms on the developing brain, genetic susceptibility, role in neurodevelopmental disorders, and possible therapeutic interventions are certainly warranted.

Use of drawings in children with pervasive developmental disorder during hospitalization: a developmental perspective.

PubMed

Stefanatou, Athena

2008-12-01

The level and nature of emotional upheaval and relationship to developmental stage was studied in children with pervasive developmental disorder (PDD) hospitalized for head injury. The sample consisted of 25 hospitalized children aged 5-12 years. Children were asked to make the drawing of a ;person in hospital'. The drawings were evaluated by Koppitz's emotional indicators. Punishment and persecution were the main cognitive constructs of children in order to explain hospitalization.

[Comorbidity in autism spectrum disorders - II. Genetic syndromes and neurological problems].

PubMed

Noterdaeme, Michele A; Hutzelmeyer-Nickels, Anna

2010-07-01

Children with a pervasive developmental disorder show in addition to core symptoms a variety of genetic syndromes as well as neurological problems, which are relevant for the treatment and the course of the disorder. The objective of our study is to analyse the nature and the frequency of these co-morbid somatic disorders in relation to the level of intellectual functioning of the patients. The sample consists of 601 patients with a pervasive developmental disorder diagnosed at the Department of Developmental Disorders at the Heckscher-Klinikum between 1997 and 2007. In addition to genetic syndromes, we also recorded a variety of neurological disorders. 373 of the patients (62%) had at least one additional diagnosis and 121 (20%) had at least two additional diagnoses on Axis IV of the multi-axial classification scheme. Genetic syndromes were found in 6% of the patients (N = 37). Movement disorders (N = 214; 35.6%) and epilepsy (N = 98; 16.3%) were the most frequent neurological disorders. Children with mental retardation showed significantly more somatic diagnoses than children without mental retardation. Children with pervasive developmental disorders show a wide variety of co-morbid somatic problems, which are relevant for the treatment and the course of the disorder. Children with autism and mental retardation show more co-morbid conditions and are more impaired in their psychosocial adaptation than children with autism without mental retardation.

[Comparison of attachment-related social behaviors in autistic disorder and developmental disability].

PubMed

Akdemir, Devrim; Pehlivantürk, Berna; Unal, Fatih; Ozusta, Seniz

2009-01-01

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.

Maternal impulse control disability and developmental disorder traits are risk factors for child maltreatment.

PubMed

Tachibana, Yoshiyuki; Takehara, Kenji; Kakee, Naoko; Mikami, Masashi; Inoue, Eisuke; Mori, Rintaro; Ota, Erika; Koizumi, Tomoe; Okuyama, Makiko; Kubo, Takahiko

2017-11-14

Previous work has suggested that maternal developmental disorder traits related to autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) are significantly associated with child maltreatment. However, there may be other important maternal characteristics that contribute to child maltreatment. We hypothesized that maternal impulse control disability may also affect child maltreatment in addition to maternal developmental disorder traits. We aimed to test this hypothesis via a cohort study performed in Tokyo (n = 1,260). Linear regression analyses using the Behavioural Inhibition/Behavioural Activation Scales, the self-administered short version of the Pervasive Developmental Disorders Autism Society Japan Rating Scale, the short form of the Adult Attention-Deficit Hyperactivity Disorder Self-Report Scale, and the Child Maltreatment Scale, revealed that excessive inhibition of behaviour and affect, which is impulse control disability, is significantly associated with child maltreatment (b = 0.031, p = 0.018) in addition to maternal developmental disorder traits (ASD: b = 0.052, p = 0.004; ADHD: b = 0.178, p < 0.001). Logistic regression analyses revealed that ASD (adjusted odds ratio [AOR] = 1.083, p = 0.014) and high behavioural inhibition (AOR = 1.068, p = 0.016) were significantly associated with moderate child maltreatment, while ADHD was associated (AOR = 1.034, p = 0.022) with severe child maltreatment. These maternal characteristics may inform the best means for prevention and management of child maltreatment cases.

The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder

PubMed Central

Munir, Kerim M.

2016-01-01

Purpose of review 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. Recent findings 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. Summary 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. PMID:26779862

The co-occurrence of mental disorders in children and adolescents with intellectual disability/intellectual developmental disorder.

PubMed

Munir, Kerim M

2016-03-01

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.

Development and psychometric evaluation of a psychosocial quality-of-life questionnaire for individuals with autism and related developmental disorders.

PubMed

Markowitz, Leslie A; Reyes, Charina; Embacher, Rebecca A; Speer, Leslie L; Roizen, Nancy; Frazier, Thomas W

2016-10-01

This study investigated the psychometric properties of the Child and Family Quality of Life scale, a measure of psychosocial quality of life in those with autism and related developmental disorders. Parents of 212 children suspected of autism spectrum disorder completed the Child and Family Quality of Life prior to a diagnostic evaluation. Results indicated that the Child and Family Quality of Life measured six unique quality-of-life constructs (child, family/caregiver, financial, external support, partner relationship, and coping), had good reliability across score ranges and exhibited expected patterns of convergent validity. Caregivers of autism spectrum disorder-affected children reported reduced family quality of life prior to the time of diagnosis relative to caregivers of children with other developmental disabilities. The Child and Family Quality of Life is a brief, reliable measure for assessing psychosocial quality of life in families affected by developmental disability. This study is the first to demonstrate impairments in family quality of life early in the developmental course of autism spectrum disorder, prior to formal diagnosis. In addition to traditional child-focused intervention strategies, families with autism spectrum disorder-affected children require early, broad intervention strategies that positively impact the whole family. © The Author(s) 2015.

Is pervasive developmental disorder not otherwise specified less stable than autistic disorder? A meta-analysis.

PubMed

Rondeau, Emélie; Klein, Leslie S; Masse, André; Bodeau, Nicolas; Cohen, David; Guilé, Jean-Marc

2011-09-01

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 response criterion. The pooled Relative Risk was 1.95 (p < 0.001) showing that AD diagnostic stability was higher than PDD-NOS. When diagnosed before 36 months PDD-NOS bore a 3-year stability rate of 35%. Examining the developmental trajectories showed that PDD-NOS corresponded to a group of heterogeneous pathological conditions including prodromic forms of later AD, remitted or less severe forms of AD, and developmental delays in interaction and communication.

Ocular Features of Cerebro-Costo-Mandibular Syndrome.

PubMed

Hameed, Zoya; Taylor, Simon; Lindfield, Dan

2018-01-01

Cerebro-costo-mandibular syndrome (CCMS) is a rare hereditary disorder characterized by micrognathia, posterior rib gaps, and secondary developmental delay. Patients often require ventilation and feeding support throughout life. We describe the first reported ophthalmic findings of CCMS and propose that defects in choroidal permeability lead to chronic macular edema and refractory aqueous misdirection syndrome. Here we discuss the medical and surgical management concerns of recurrent angle closure and raised intraocular pressure in a CCMS patient.

Endodontic Treatment of Hypertaurodontic Mandibular Molar Using Reciprocating Single-file System: A Case Report.

PubMed

C do Nascimento, Adriano; A F Marques, André; C Sponchiado-Júnior, Emílio; F R Garcia, Lucas; M A de Carvalho, Fredson

2016-01-01

Taurodontism is a developmental tooth disorder characterized by lack of constriction in the cementoenamel junction and consequent vertical stretch of the pulp chamber, accompanied by apical displacement of the pulpal floor. The endodontic treatment of teeth with this type of morpho-anatomical anomaly is challenging. The purpose of this article is to report the successful endodontic treatment of a hypertaurodontic mandibular molar using a reciprocating single-file system.

Case against Diagnosing Developmental Language Disorder by Default: A Single Case Study of Acquired Aphasia Associated with Convulsive Disorder

ERIC Educational Resources Information Center

Marinac, Julie V.; Harper, Laura

2009-01-01

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.…

Cognitive Profiles of Adults with Asperger's Disorder, High-Functioning Autism, and Pervasive Developmental Disorder Not Otherwise Specified Based on the WAIS-III

ERIC Educational Resources Information Center

Kanai, Chieko; Tani, Masayuki; Hashimoto, Ryuichiro; Yamada, Takashi; Ota, Haruhisa; Watanabe, Hiromi; Iwanami, Akira; Kato, Nobumasa

2012-01-01

Little is known about the cognitive profiles of high-functioning Pervasive Developmental Disorders (PDD) in adults based on the Wechsler Intelligence Scale III (WAIS-III). We examined cognitive profiles of adults with no intellectual disability (IQ greater than 70), and in adults with Asperger's disorder (AS; n = 47), high-functioning autism (HFA;…

What Is Not Working in Working Memory of Children with Literacy Disorders? Evidence from a Three-Year-Longitudinal Study

ERIC Educational Resources Information Center

Fischbach, Anne; Könen, Tanja; Rietz, Chantal S.; Hasselhorn, Marcus

2014-01-01

The goals of this study were to explore the deficits in working memory associated with literacy disorders (i.e. developmental disorders of reading and/or spelling) and the developmental trajectories of these working memory deficits. The performance of 28 children with literacy disorders was compared to a non-disabled control group with the same…

Overlapping Phenotypes in Autism Spectrum Disorder and Developmental Coordination Disorder: A Cross-Syndrome Comparison of Motor and Social Skills

ERIC Educational Resources Information Center

Sumner, Emma; Leonard, Hayley C.; Hill, Elisabeth L.

2016-01-01

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.…

[Cognitive Profiles of Preschool Children with Developmental Coordination Disorders and ADHD].

PubMed

Jascenoka, Julia; Korsch, Franziska; Petermann, Franz; Petermann, Ulrike

2015-01-01

Cognitive Profiles of Preschool Children with Developmental Coordination Disorders and ADHD Studies confirm that developmental coordination disorders (DCD) are often accompanied by ADHD. It is important to know why children with combined disorders show a special profile in a common intelligence test (WPPSI-III). For this purpose, the WPPSI-III results of a total of 125 children aged five to six years with diagnosed isolated DCD, isolated ADHD, combined disorders and a normative sample were compared. Children with isolated ADHD showed the best cognitive profile. Children of all three diagnosis subgroups presented significantly poorer abilities in all WPPSI-III scales than the normative sample. In comparison with preschoolers showing isolated ADHD, children with DCD and ADHD have a significant lower Processing Speed Quotient.

Eating disorder symptoms and weight and shape concerns in a large web-based convenience sample of women ages 50 and above: results of the Gender and Body Image (GABI) study.

PubMed

Gagne, Danielle A; Von Holle, Ann; Brownley, Kimberly A; Runfola, Cristin D; Hofmeier, Sara; Branch, Kateland E; Bulik, Cynthia M

2012-11-01

Limited research exists on eating disorder symptoms and attitudes and weight and shape concerns in women in midlife to older adulthood. We conducted an online survey to characterize these behaviors and concerns in women ages 50 and above. Participants (n = 1,849) were recruited via the Internet and convenience sampling. Eating disorder symptoms, dieting and body checking behaviors, and weight and shape concerns were widely endorsed. Younger age and higher body mass index (BMI) were associated with greater endorsement of eating disorder symptoms, behaviors, and concerns. Weight and shape concerns and disordered eating behaviors occur in women over 50 and vary by age and BMI. Focused research on disordered eating patterns in this age group is necessary to develop age-appropriate interventions and to meet the developmental needs of an important, growing, and underserved population. Copyright © 2012 Wiley Periodicals, Inc.

Fractionation of social brain circuits in autism spectrum disorders.

PubMed

Gotts, Stephen J; Simmons, W Kyle; Milbury, Lydia A; Wallace, Gregory L; Cox, Robert W; Martin, Alex

2012-09-01

Autism spectrum disorders are developmental disorders characterized by impairments in social and communication abilities and repetitive behaviours. Converging neuroscientific evidence has suggested that the neuropathology of autism spectrum disorders is widely distributed, involving impaired connectivity throughout the brain. Here, we evaluate the hypothesis that decreased connectivity in high-functioning adolescents with an autism spectrum disorder relative to typically developing adolescents is concentrated within domain-specific circuits that are specialized for social processing. Using a novel whole-brain connectivity approach in functional magnetic resonance imaging, we found that not only are decreases in connectivity most pronounced between regions of the social brain but also they are selective to connections between limbic-related brain regions involved in affective aspects of social processing from other parts of the social brain that support language and sensorimotor processes. This selective pattern was independently obtained for correlations with measures of social symptom severity, implying a fractionation of the social brain in autism spectrum disorders at the level of whole circuits.

Fractionation of social brain circuits in autism spectrum disorders

PubMed Central

Simmons, W. Kyle; Milbury, Lydia A.; Wallace, Gregory L.; Cox, Robert W.; Martin, Alex

2012-01-01

Autism spectrum disorders are developmental disorders characterized by impairments in social and communication abilities and repetitive behaviours. Converging neuroscientific evidence has suggested that the neuropathology of autism spectrum disorders is widely distributed, involving impaired connectivity throughout the brain. Here, we evaluate the hypothesis that decreased connectivity in high-functioning adolescents with an autism spectrum disorder relative to typically developing adolescents is concentrated within domain-specific circuits that are specialized for social processing. Using a novel whole-brain connectivity approach in functional magnetic resonance imaging, we found that not only are decreases in connectivity most pronounced between regions of the social brain but also they are selective to connections between limbic-related brain regions involved in affective aspects of social processing from other parts of the social brain that support language and sensorimotor processes. This selective pattern was independently obtained for correlations with measures of social symptom severity, implying a fractionation of the social brain in autism spectrum disorders at the level of whole circuits. PMID:22791801

Quality of Life of Adults with Pervasive Developmental Disorders and Intellectual Disabilities

ERIC Educational Resources Information Center

Gerber, F.; Baud, M. A.; Giroud, M.; Carminati, G. Galli

2008-01-01

The purpose of this study was to observe quality of life (QoL) and global evolution of persons with Pervasive Developmental Disorders (PDD) in three different groups. Individualized programs for PDD were compared to traditional programs for intellectual disabilities. Behavioural disorders were repeatedly evaluated using the Aberrant Behaviour…

Finding Susceptibility Genes for Developmental Disorders of Speech: The Long and Winding Road.

ERIC Educational Resources Information Center

Felsenfeld, Susan

2002-01-01

This article explores the gene-finding process for developmental speech disorders (DSDs), specifically disorders of articulation/phonology and stuttering. It reviews existing behavioral genetic studies of these phenotypes, discusses roadblocks that may impede the molecular study of DSDs, and reviews the findings of the small number of molecular…

Pervasive Developmental Disorder: Client-Centered Approach. A Guide for Parents and Teachers.

ERIC Educational Resources Information Center

Stewart, Bonnie C.

This guide to pervasive developmental disorder (PDD) or autistic spectrum disorder (ASD) first provides a review of the literature on defining characteristics of PDD/ASD, causes of PDD, and diagnosis of PDD. Review of intervention and treatment comprises the major portion of the paper. After briefly considering parent education, this section…

Handwriting-Based Model for Identification of Developmental Disorders among North Indian Children

ERIC Educational Resources Information Center

Dhall, Jasmine Kaur

2016-01-01

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.…

Emerging Adulthood in Developmental Co-Ordination Disorder: Parent and Young Adult Perspectives

ERIC Educational Resources Information Center

Kirby, A.; Edwards, L.; Sugden, D.

2011-01-01

Recent research widely acknowledges that developmental co-ordination disorder (DCD) is a pervasive and enduring disorder, which persists into adolescence and adulthood ([Cousins and Smyth, 2003] and [Kirby et al., 2008]). However, few studies have given detailed consideration to the range and level of functioning difficulties in emerging adults…

Developmental and Communication Disorders in Children with Intellectual Disability: The Place Early Intervention for Effective Inclusion

ERIC Educational Resources Information Center

Jacob, Udeme Samuel; Olisaemeka, Angela Nneka; Edozie, Isioma Sitamalife

2015-01-01

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,…

Primordial dwarfism: overview of clinical and genetic aspects.

PubMed

Khetarpal, Preeti; Das, Satrupa; Panigrahi, Inusha; Munshi, Anjana

2016-02-01

Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier-Gorlin Syndrome. This genetic disorder group is characterized by intra-uterine growth retardation and post-natal growth abnormalities which occur as a result of disorganized molecular and genomic changes in embryonic stage and, thus, it represents a unique area to study growth and developmental abnormalities. Lot of research has been carried out on different aspects; however, a consolidated review that discusses an overall spectrum of this disorder is not accessible. Recent research in this area points toward important molecular and cellular mechanisms in human body that regulate the complexity of growth process. Studies have emerged that have clearly associated with a number of abnormal chromosomal, genetic and epigenetic alterations that can predispose an embryo to develop PD-associated developmental defects. Finding and associating such fundamental changes to its subtypes will help in re-examination of alleged functions at both cellular and developmental levels and thus reveal the intrinsic mechanism that leads to a balanced growth. Although such findings have unraveled a subtle understanding of growth process, we further require active research in terms of identification of reliable biomarkers for different subtypes as an immediate requirement for clinical utilization. It is hoped that further study will advance the understanding of basic mechanisms regulating growth relevant to human health. Therefore, this review has been written with an aim to present an overview of chromosomal, molecular and epigenetic modifications reported to be associated with different subtypes of this heterogenous disorder. Further, latest findings with respect to clinical and molecular genetics research have been summarized to aid the medical fraternity in their clinical utility, for diagnosing disorders where there are overlapping physical attributes and simultaneously inform about the latest developments in PD biology.

[Obsessive-compulsive symptoms, tics, stereotypic movements or need for absolute consistency? The occurrence of repetitive activities in patients with pervasive developmental disorders--case studies].

PubMed

Bryńska, Anita; Lipińska, Elzbieta; Matelska, Monika

2011-01-01

Repetitive and stereotyped behaviours in the form of stereotyped interests or specific routine activities are one ofthe diagnostic criteria in pervasive developmental disorders. The occurrence of repetitive behaviours in patients with pervasive developmental disorders is a starting point for questions about the type and classification criteria of such behaviours. The aim of the article is to present case studies of patients with pervasive developmental disorders and co-morbid symptoms in the form of routine activities, tics, obsessive-compulsive symptoms or stereotyped behaviours. The first case study describes a patient with Asperger's syndrome and obsessive compulsive symptoms. The diagnostic problems regarding complex motor tics are discussed in the second case study which describes a patient with Asperger's syndrome and Gilles de la Tourette syndrome. The third and fourth case study describes mono-zygotic twins with so called High Functioning Autism whose repetitive activities point to either obsessive compulsive symptoms, stereotypic movements, need for absolute consistency or echopraxia. The possible comorbidity of pervasive developmental disorders and symptoms in the form of repetitive behaviours, possible interactions as well as diagnostic challenges is discussed in the article.

Nonspeech oral motor treatment issues related to children with developmental speech sound disorders.

PubMed

Ruscello, Dennis M

2008-07-01

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 muscle control. In the case of developmental speech sound disorders, NSOMTs are employed before or simultaneous with actual speech production treatment. First, NSOMTs are defined for the reader, and there is a discussion of NSOMTs under the categories of active muscle exercise, passive muscle exercise, and sensory stimulation. Second, different theories underlying NSOMTs along with the implications of the theories are discussed. Finally, a review of pertinent investigations is presented. The application of NSOMTs is questionable due to a number of reservations that include (a) the implied cause of developmental speech sound disorders, (b) neurophysiologic differences between the limbs and oral musculature, (c) the development of new theories of movement and movement control, and (d) the paucity of research literature concerning NSOMTs. There is no substantive evidence to support NSOMTs as interventions for children with developmental speech sound disorders.

Hearing, speech, language, and vestibular disorders in the fetal alcohol syndrome: a literature review.

PubMed

Church, M W; Kaltenbach, J A

1997-05-01

Fetal alcohol syndrome (FAS) is characterized in part by mental impairment, as well as craniofacial and ocular anomalies. These conditions are traditionally associated with childhood hearing disorders, because they all have a common embryonic origin in malformations of the first and second branchial arches, and have similar critical periods of vulnerability to toxic insult. A review of human and animal research indicates that there are four types of hearing disorders associated with FAS. These are: (1) a developmental delay in auditory maturation, (2) sensorineural hearing loss, (3) intermittent conductive hearing loss due to recurrent serous otitis media, and (4) central hearing loss. The auditory and vestibular systems share the same peripheral apparatuses (the inner ear and eighth cranial nerve) and are embryologically and structurally similar. Consequently, vestibular disorders in FAS children might be expected. The evidence for vestibular dysfunction in FAS is ambiguous, however. Like other syndromes associated with craniofacial anomalies, hearing disorders, and mental impairment, FAS is also characterized by a high prevalence of speech and language pathology. Hearing disorders are a form of sensory deprivation. If present during early childhood, they can result in permanent hearing, language, and mental impairment. Early identification and intervention to treat hearing, language, and speech disorders could therefore result in improved outcome for the FAS child. Specific recommendations are made for intervention and future research.

Developmental psychopathology: Attention Deficit Hyperactivity Disorder (ADHD).

PubMed

Schmidt, Sören; Petermann, Franz

2009-09-17

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.

A developmental approach to the treatment of bipolar disorder: IPSRT with an adolescent.

PubMed

Crowe, Marie; Inder, Maree; Joyce, Peter; Moor, Stephanie; Carter, Janet; Luty, Sue

2009-01-01

This case study explains how a psychotherapy previously used with adults can be used with adolescents by focusing on the specific developmental issues associated with adolescence. Bipolar disorder is a damaging disorder to experience during the developmental phase of adolescence. Interpersonal social rhythm psychotherapy has been developed as an adjunct to medication for managing bipolar disorder and shows some promising outcomes in adults. This is a single case study design drawn from a larger randomised control trial of two psychotherapies for bipolar disorder. The case study addressed the question: How can Interpersonal social rhythm therapy be applied with adolescents who have bipolar disorder? This study used a purposeful sampling process by selecting the youngest adolescent participating in the randomised control trial. All the subject's sessions of Interpersonal social rhythm therapy were taped, transcribed and analysed. The analysis involved describing the process of psychotherapy as it occurred over time, mapping the process as a trajectory across the three phases of psychotherapy experience and focusing the analysis around the impact of bipolar disorder and IPSRT on adolescent developmental issues, specifically the issue of identity development. Interpersonal social rhythm therapy allowed the therapist to address developmental issues within its framework. As a result of participation in the psychotherapy the adolescent was able to manage her mood symptoms and develop a sense of identity that was age-appropriate. Interpersonal social rhythm therapy provided the adolescent in the case study the opportunity to consider what it meant to have bipolar disorder and to integrate this meaning into her sense of self. Bipolar disorder is a chronic and recurring disorder that can have a serious impact on development and functioning. Interpersonal social rhythm therapy provides an approach to nursing care that enables adolescents to improve social functioning.

Demystifying cognitive flexibility: Implications for clinical and developmental neuroscience

PubMed Central

Dajani, Dina R.; Uddin, Lucina Q.

2015-01-01

Cognitive flexibility, the readiness with which one can selectively switch between mental processes to generate appropriate behavioral responses, develops in a protracted manner and is compromised in several prevalent neurodevelopmental disorders. It is unclear whether cognitive flexibility arises from neural substrates distinct from the executive control network, or from the interplay of nodes within this and other networks. Here we review neuroimaging studies of cognitive flexibility, focusing on set shifting and task switching. We propose that more consistent operationalization and study of cognitive flexibility is required in clinical and developmental neuroscience. We suggest that an important avenue for future research is the characterization of the relationship between neural flexibility and cognitive flexibility in typical and atypical development. PMID:26343956

Effect of Developmental Quotient on Symptoms of Inattention and Impulsivity among Toddlers with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Matson, Johnny L.; Mahan, Sara; Hess, Julie A.; Fodstad, Jill C.

2010-01-01

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…

Stability and Composition of Functional Synergies for Speech Movements in Children with Developmental Speech Disorders

ERIC Educational Resources Information Center

Terband, H.; Maassen, B.; van Lieshout, P.; Nijland, L.

2011-01-01

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…

An Examination of Specific Child Behavior Problems as Predictors of Parenting Stress among Families of Children with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Davis, Allyson L.; Neece, Cameron L.

2017-01-01

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…

Can biological components predict short-term evolution in Autism Spectrum Disorders? A proof-of-concept study.

PubMed

Emberti Gialloreti, Leonardo; Benvenuto, Arianna; Battan, Barbara; Benassi, Francesca; Curatolo, Paolo

2016-07-22

The clinical and pathogenetic heterogeneity of Autism Spectrum Disorders (ASD) limits our ability to predict its short- and long-term evolution. Aim of this naturalistic study was to observe the clinical evolution of very young children with ASD for 12 months after first diagnosis, in order to identify those children who might develop a more positive trajectory and understand how a wide range of biological, clinical and familial factors can influence prognosis. Ninety-two children were characterized in terms of family history, prenatal and perinatal variables, and clinical conditions. The sample was divided into four subgroups based on the association of 22 biological, clinical and family history variables. Developmental Quotient (DQ), determined using the Psychoeducational Profile Revised (PEP-R), and symptoms severity, measured by means of the Autism Diagnostic Observation Schedule (ADOS), were evaluated at baseline (T0) and after one year (T1), while receiving treatment as usual. Changes in DQ and ADOS between baseline and follow-up and differences in the short-term evolution of the four subgroups were analyzed. At T1, 55.4 % of the children demonstrated some gains either of autistic symptomatology or of developmental skills. Mean ADOS score was 13.63 ± 3.67 at T0 and 10.85 ± 4.10 at T1 and mean DQ was 0.64 ± 0.14 at T0 and 0.66 ± 0.15 at T1. At follow-up, 33.7 % of the children showed an improvement in DQ and 37 % presented a less severe symptomatology, measured by means of ADOS. Overall, 15.2 % of the sample displayed major improvements both on developmental quotient and ADOS severity score; these children presented less EEG abnormalities and familial psychiatric disorders. The four subgroups, based on biological, clinical and familial variables, showed differing trends in terms of evolution. Categorizing very young children with ASD in terms of biological, clinical and familial variables can be instrumental in predicting short-term evolution. This exploratory study highlights the importance of a precise characterization and thorough analysis of interactions among biological and clinical variables, in order to predict the developmental evolution in children with ASD.

Inhibition of GSK3β rescues hippocampal development and learning in a mouse model of CDKL5 disorder.

PubMed

Fuchs, Claudia; Rimondini, Roberto; Viggiano, Rocchina; Trazzi, Stefania; De Franceschi, Marianna; Bartesaghi, Renata; Ciani, Elisabetta

2015-10-01

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in a rare neurodevelopmental disorder characterized by early-onset seizures, severe developmental delay, intellectual disability and Rett syndrome-like features. CDKL5 is highly expressed in the brain during early postnatal stages, suggesting its importance for brain maturation. Using a newly-generated Cdkl5 knockout (Cdkl5 -/Y) mouse, we recently found that loss of Cdkl5 impairs postnatal hippocampal development with a reduction in neuronal precursor survival and maturation. These defects were accompanied by increased activity of the glycogen synthase kinase 3β (GSK3β) a crucial inhibitory regulator of many neurodevelopmental processes. The goal of the current study was to establish whether inhibition of GSK3β corrects hippocampal developmental defects due to Cdkl5 loss. We found that treatment with the GSK3β inhibitor SB216763 restored neuronal precursor survival, dendritic maturation, connectivity and hippocampus-dependent learning and memory in the Cdkl5 -/Y mouse. Importantly, these effects were retained one month after treatment cessation. At present, there are no therapeutic strategies to improve the neurological defects of subjects with CDKL5 disorder. Current results point at GSK3β inhibitors as potential therapeutic tools for the improvement of abnormal brain development in CDKL5 disorder. Copyright © 2015. Published by Elsevier Inc.

Establishing a protocol for building a pan-Canadian population-based monitoring system for early childhood development for children with health disorders: Canadian Children’s Health in Context Study (CCHICS)

PubMed Central

Janus, Magdalena; Brownell, Marni; Reid-Westoby, Caroline; Bennett, Teresa; Birken, Catherine; Coplan, Robert; Duku, Eric; Ferro, Mark A; Forer, Barry; Georgiades, Stelios; Gorter, Jan Willem; Guhn, Martin; Maguire, Jonathon L; Manson, Heather; Pei, Jacqueline; Santos, Rob

2018-01-01

Introduction Health disorders early in life have tremendous impact on children’s developmental trajectories. Almost 80% of children with health disorders lack the developmental skills to take full advantage of school-based education relative to 27% of children without a health disorder. In Canada, there is currently a dearth of nationally representative data on the social determinants of early childhood development for children with health disorders. Evidence from Canada and other countries indicate that poorer developmental outcomes in typically developing children are associated with lower socioeconomic status (SES). However, to date, it is not known whether this relationship is stronger among children with health disorders. The study’s objectives are to estimate the prevalence and to investigate social determinants of developmental outcomes for young children with health disorders, using the Early Development Instrument (EDI). Methods and analysis Study objectives will be achieved through three steps. First, using existing EDI data for 10 provinces and 2 territories collected from 2004 to 2015, we will investigate differences in developmental health outcomes among children with identified health disorders. Second, population-level EDI data will be linked with neighbourhood sociodemographic census data to explore associations between socioeconomic characteristics and rates of specific diagnoses among children aged 5–6 years, including trends over time. Third, for 3 of these 12 regions, additional health and/or education databases will be linked at an individual level. These data will be used to establish differences in EDI outcomes in relation to the age-of-onset of diagnosis, and presence of intervention or treatment. Ethics and dissemination Study methodologies have been approved by the Hamilton Integrated Research Ethics Board. The results of the analyses of developmental health outcomes for children with health disorders combined with SES will have implications for both health service delivery and school-based intervention strategies. Results will contribute to a framework for public policy. PMID:29844103

Peer problems mediate the relationship between developmental coordination disorder and behavioral problems in school-aged children.

PubMed

Wagner, Matthias Oliver; Bös, Klaus; Jascenoka, Julia; Jekauc, Darko; Petermann, Franz

2012-01-01

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 internalizing/externalizing problems in school-aged children is mediated by peer problems and tested the hypothesis that a greater degree of motor impairment causes a greater degree of peer problems and thus a greater degree of internalizing or externalizing problems. Seventy boys and girls aged between 5 and 11 years were examined using the Movement Assessment Battery for Children 2 and the Intelligence and Developmental Scales. The results of path analysis showed that the relationship between developmental coordination disorder and internalizing/externalizing problems in school-aged children is mediated at least in part by peer problems. However, the cross-sectional design of the study does not provide conclusive evidence for a cause-effect relationship and only allows for the conservative prognosis that a greater degree of motor impairment may cause a greater degree of peer problems and thus a greater degree of internalizing/externalizing problems. Nevertheless, the results of this study emphasize the importance of being well-integrated in their peer group especially for children with developmental coordination disorder. Copyright © 2012 Elsevier Ltd. All rights reserved.

Is Long-Term Prognosis for Pervasive Developmental Disorder Not Otherwise Specified Different from Prognosis for Autistic Disorder? Findings from a 30-Year Follow-Up Study

ERIC Educational Resources Information Center

Mordre, Marianne; Groholt, Berit; Knudsen, Ann Kristin; Sponheim, Eili; Mykletun, Arnstein; Myhre, Anne Margrethe

2012-01-01

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…

Aggression in autism spectrum disorder: presentation and treatment options

PubMed Central

Fitzpatrick, Sarah E; Srivorakiat, Laura; Wink, Logan K; Pedapati, Ernest V; Erickson, Craig A

2016-01-01

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by persistent difficulties in social communication and social interaction, coupled with restricted, repetitive patterns of behavior or interest. Research indicates that aggression rates may be higher in individuals with ASD compared to those with other developmental disabilities. Aggression is associated with negative outcomes for children with ASD and their caregivers, including decreased quality of life, increased stress levels, and reduced availability of educational and social support. Therapeutic strategies including functional behavioral assessment, reinforcement strategies, and functional communication training may have a significant impact in reducing the frequency and intensity of aggressive behavior in individuals with ASD. Pharmacologic treatments, particularly the use of second-generation antipsychotics, may also be of some benefit in reducing aggression in individuals with ASD. With the ever-increasing rate of ASD diagnosis, development of effective therapeutic and pharmacologic methods for preventing and treating aggression are essential to improving outcomes in this disorder. PMID:27382295

Gene x Environment Interactions in Reading Disability and Attention-Deficit/Hyperactivity Disorder

ERIC Educational Resources Information Center

Pennington, Bruce F.; McGrath, Lauren M.; Rosenberg, Jenni; Barnard, Holly; Smith, Shelley D.; Willcutt, Erik G.; Friend, Angela; DeFries, John C.; Olson, Richard K.

2009-01-01

This article examines Gene x Environment (G x E) interactions in two comorbid developmental disorders--reading disability (RD) and attention-deficit/hyperactivity disorder (ADHD)--as a window on broader issues on G x E interactions in developmental psychology. The authors first briefly review types of G x E interactions, methods for detecting…

Neural Dissociation of Phonological and Visual Attention Span Disorders in Developmental Dyslexia: fMRI Evidence from Two Case Reports

ERIC Educational Resources Information Center

Peyrin, C.; Lallier, M.; Demonet, J. F.; Pernet, C.; Baciu, M.; Le Bas, J. F.; Valdois, S.

2012-01-01

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…

Research on Children & Adolescents with Mental, Behavioral & Developmental Disorders. Mobilizing a National Initiative. Report of a Study.

ERIC Educational Resources Information Center

Institute of Medicine (NAS), Washington, DC. Div. of Mental Health and Behavioral Medicine.

This report focuses on the 7.5 million children in the United States with diagnosable mental illnesses, examining developmental, behavioral and emotional disorders in this group. Progress being made toward understanding, preventing, and treating these disorders is documented, future directions for research are put forth, and critical resource…

Sensory Symptoms in Children with Autism Spectrum Disorder, Other Developmental Disorders and Typical Development: A Longitudinal Study

ERIC Educational Resources Information Center

McCormick, Carolyn; Hepburn, Susan; Young, Gregory S.; Rogers, Sally J.

2016-01-01

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…

Cross-Cultural Validity of the Social Communication Questionnaire for Adults with Intellectual Developmental Disorder

ERIC Educational Resources Information Center

Sappok, Tanja; Brooks, Whitney; Heinrich, Manuel; McCarthy, Jane; Underwood, Lisa

2017-01-01

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.…

Differential Language Markers of Pathology in Autism, Pervasive Developmental Disorder Not Otherwise Specified and Specific Language Impairment

ERIC Educational Resources Information Center

Demouy, Julie; Plaza, Monique; Xavier, Jean; Ringeval, Fabien; Chetouani, Mohamed; Perisse, Didier; Chauvin, Dominique; Viaux, Sylvie; Golse, Bernard; Cohen, David; Robel, Laurence

2011-01-01

Language impairment is a common core feature in Pervasive Developmental Disorders (PDD) and Specific Language Impairment (SLI). Many studies have tried to define the specific language profiles of these disorders, some claiming the existence of overlaps, and others conceiving of them as separate categories. Fewer have sought to determine whether…

A Preliminary Study on the Effect of Methylphenidate on Motor Performance in Children with Comorbid DCD and ADHD

ERIC Educational Resources Information Center

Bart, Orit; Podoly, Tamar; Bar-Haim, Yair

2010-01-01

Attention Deficit Hyperactive Disorder (ADHD) and Developmental Coordination Disorder (DCD) are two developmental disorders with considerable comorbidity. The impact of Methylphenidate (MPH) on ADHD symptoms is well documented. However, the effects of MPH on motor coordination are less studied. We assessed the influence of MPH on motor performance…

Developmentally Sensitive Diagnostic Criteria for Mental Health Disorders in Early Childhood: The Diagnostic and Statistical Manual of Mental Disorders-IV, the Research Diagnostic Criteria-Preschool Age, and the Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood-Revised

ERIC Educational Resources Information Center

Egger, Helen L.; Emde, Robert N.

2011-01-01

As the infant mental health field has turned its focus to the presentation, course, and treatment of clinically significant mental health disorders, the need for reliable and valid criteria for identifying and assessing mental health symptoms and disorders in early childhood has become urgent. In this article we offer a critical perspective on…

Understanding the autistic dental patient.

PubMed

Green, Danielle; Flanagan, Dennis

2008-01-01

Autism spectrum disorder (ASD) is one of many pervasive developmental disorders (PDD); others include Rett syndrome, childhood disintegrative disorder (also known as Heller's syndrome), pervasive developmental disorder not otherwise specified (PDD-NOS), and the higher functioning Asperger's syndrome. Because ASD is the most common of the developmental disabilities, it is not unusual for dentists to have ASD patients among their patient population. As the name indicates, ASD varies widely in its clinical manifestations; however, dentists are likely to encounter difficulties with communication and socialization. Although communication may be difficult, it is not impossible. A thorough understanding of this complex neurological disorder and displaying patience are vital for the dentist. This article seeks to familiarize readers with ASD characteristics and co-morbid conditions that may affect dental treatment and provide some management strategies for this unique population.

Parent Beliefs about the Causes of Learning and Developmental Problems among Children with Autism Spectrum Disorder: Results from a National Survey

ERIC Educational Resources Information Center

Zuckerman, Katharine E.; Lindly, Olivia J.; Sinche, Brianna

2016-01-01

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…

The Role of Developmental Screening Practices in Early Diagnosis of Autism Spectrum Disorders: An Analysis of All-Payer Claims Data in New Hampshire

ERIC Educational Resources Information Center

Humphreys, Betsy P.

2013-01-01

Universal developmental screening during pediatric well child care detects early delays in development and is a critical gateway to early intervention for young children at risk for Autism Spectrum Disorders (ASD). Developmental screening practices are highly variable, and few studies have examined screening utilization for children at risk for…

Child maltreatment syndrome: demographics and developmental issues of inpatient cases.

PubMed

Ngiam, Xin Ying; Kang, Ying Qi; Aishworiya, Ramkumar; Kiing, Jennifer; Law, Evelyn Chung Ning

2015-11-01

This study aimed to describe the demographic, social, developmental and behavioural profile of children hospitalised for alleged child maltreatment syndrome (CMS). This study was a retrospective review of the consecutive inpatient records of children (0-16 years) admitted to the National University Hospital, Singapore, for alleged CMS over a three-year period. Descriptive data on the demographic characteristics, alleged maltreatment, medical and developmental histories, and family background of these children were collected and analysed. Chi-square statistics were used to test whether family factors were associated with the type of maltreatment and the presence of developmental disorders. A total of 89 children, who accounted for 90 admission cases, were studied. Physical abuse (70.0%) was the most common, followed by neglect (11.1%) and sexual abuse (7.8%). Child protection services had already been involved in 29.2% of the cases prior to the child's admission. Children who were victims of abuse were more likely to come from homes with a prior history of domestic violence (p = 0.028). Financial difficulty was found to be a risk factor for neglect (p = 0.005). Among the 89 children, 15.7% were found to have developmental disorders and 10.1% had mental health diagnoses. Children who had developmental disorders were more likely to have a parent with a mental health disorder (p = 0.002). A sizeable proportion of the children admitted for alleged CMS had developmental or behavioural disorders. Clinicians have a role in ensuring that these children have appropriate follow-up plans. Children from high-risk families should be screened for maltreatment.

Child maltreatment syndrome: demographics and developmental issues of inpatient cases

PubMed Central

Ngiam, Xin Ying; Kang, Ying Qi; Aishworiya, Ramkumar; Kiing, Jennifer; Law, Evelyn Chung Ning

2015-01-01

INTRODUCTION This study aimed to describe the demographic, social, developmental and behavioural profile of children hospitalised for alleged child maltreatment syndrome (CMS). METHODS This study was a retrospective review of the consecutive inpatient records of children (0–16 years) admitted to the National University Hospital, Singapore, for alleged CMS over a three-year period. Descriptive data on the demographic characteristics, alleged maltreatment, medical and developmental histories, and family background of these children were collected and analysed. Chi-square statistics were used to test whether family factors were associated with the type of maltreatment and the presence of developmental disorders. RESULTS A total of 89 children, who accounted for 90 admission cases, were studied. Physical abuse (70.0%) was the most common, followed by neglect (11.1%) and sexual abuse (7.8%). Child protection services had already been involved in 29.2% of the cases prior to the child’s admission. Children who were victims of abuse were more likely to come from homes with a prior history of domestic violence (p = 0.028). Financial difficulty was found to be a risk factor for neglect (p = 0.005). Among the 89 children, 15.7% were found to have developmental disorders and 10.1% had mental health diagnoses. Children who had developmental disorders were more likely to have a parent with a mental health disorder (p = 0.002). CONCLUSION A sizeable proportion of the children admitted for alleged CMS had developmental or behavioural disorders. Clinicians have a role in ensuring that these children have appropriate follow-up plans. Children from high-risk families should be screened for maltreatment. PMID:26668405

Developmental dyscalculia.

PubMed

Shalev, Ruth S

2004-10-01

Developmental dyscalculia is a specific learning disability affecting the normal acquisition of arithmetic skills. Genetic, neurobiologic, and epidemiologic evidence indicates that dyscalculia, like other learning disabilities, is a brain-based disorder. However, poor teaching and environmental deprivation have also been implicated in its etiology. Because the neural network of both hemispheres comprises the substrate of normal arithmetic skills, dyscalculia can result from dysfunction of either hemisphere, although the left parietotemporal area is of particular significance. The prevalence of developmental dyscalculia is 5 to 6% in the school-aged population and is as common in girls as in boys. Dyscalculia can occur as a consequence of prematurity and low birthweight and is frequently encountered in a variety of neurologic disorders, such as attention-deficit hyperactivity disorder (ADHD), developmental language disorder, epilepsy, and fragile X syndrome. Developmental dyscalculia has proven to be a persisting learning disability, at least for the short term, in about half of affected preteen pupils. Educational interventions for dyscalculia range from rote learning of arithmetic facts to developing strategies for solving arithmetic exercises. The long-term prognosis of dyscalculia and the role of remediation in its outcome are yet to be determined.

Need For Long-Term Care in Children is Increasingly Caused by Disorders of Psychological Development. Changes in the Care Causing Diagnoses According to German Social Code (SGB XI) Between 2009-2014.

PubMed

Beck-Ripp, Julia Christiane; Dressel, Holger

2018-05-22

There is an ongoing discussion on the increasing number of children with mental and developmental disorders, with some even needing long-term care according to the German Social Code XI. This study was performed to identify the main diagnoses justifying such care in children and to analyse their prevalence over time. The diagnoses justifying long-term care were evaluated using care assessments of Bavarian children and adolescents between 2009 to 2014 by the medical service of statutory health insurance. Over the years investigated, the percentage of assessments due to a mental and behavioural disorder rose significantly from 36.2 to 42.2%. Since 2012, the most common diagnose changed from Down's syndrome to pervasive developmental disorders with marked increase of also mixed specific developmental disorders. In new applications for nursing insurance services the proportion of pervasive developmental disorders rose gradually from 151 in 2010 to 254 in 2014. During the whole period of time, the overall care dependency in children seemed to be stable. These observations might rather be influenced by altered awareness of health and illness, increasing readiness to seek help with psychological or developmental impairments as well as changed diagnostic criteria than by a steady increase in affected individuals. © Georg Thieme Verlag KG Stuttgart · New York.

Social Skills Groups for Asperger’s Disorder and Pervasive Developmental Disorder Not Otherwise Specified

PubMed Central

2008-01-01

Pervasive developmental disorders (PDD) including Asperger’s disorder are relatively rare conditions that can be very disabling for individuals affected. This article focuses on social skills therapy, looking at research that has been completed in a group therapy format and then using composite case examples to review basic techniques that have been used to teach social skills to children with a diagnosis of PDD. PMID:19727303

Development in Children and Adolescents Whose Mothers Have Borderline Personality Disorder

PubMed Central

2009-01-01

A mother's mental illness may have a profound effect on her child's development, including an increased risk of the child developing the same disorder. From a developmental psychopathology perspective, offspring provide an opportunity to examine pathways to disorder versus resilience. Borderline personality disorder (BPD) is a severe disorder diagnosed in early adulthood involving stormy relationships, an unstable sense of identity, and self-destructive behavior. Interestingly, the domains of dysfunction are conceptually similar to developmental tasks in early childhood reworked in adolescence: attachment, self development, and self-regulation. Early deviation may increase the risk for later disorder. There are five empirical studies of children whose mothers have BPD, two conducted from a developmental perspective. This article proposes a theoretical framework and an innovative methodology with which to extend this research, and suggests an intervention to bring development back on track if necessary. PMID:20161670

Crisis on campus: Eating disorder intervention from a developmental-ecological perspective.

PubMed

Taylor, Julia V; Gibson, Donna M

2016-01-01

The purpose of this article is to review a crisis intervention using the developmental-ecological protocol (Collins and Collins, 2005) with a college student presenting with symptomatology of an active eating disorder. Participants included University Wellness Center employees responding to the crisis. Methods include an informal review of the crisis intervention response and application of the ABCDE developmental-ecological crisis model. Results reported include insight into crisis intervention when university counseling and health center is not available as resources. ABCDE Developmental-ecological model recommendations for university faculty and staff are included.

Mental health in the United States: parental report of diagnosed autism in children aged 4-17 years--United States, 2003-2004.

PubMed

2006-05-05

Autism is a lifelong neurodevelopmental disorder characterized by early onset of impairments in social interaction and communication and unusual, stereotyped behaviors. Autism (i.e., autistic disorder) often is classified with two related, although less severe, developmental disorders: Asperger disorder and pervasive developmental disorder--not otherwise specified. These three constitute the autism spectrum disorders (ASDs). Diagnosis of ASDs is based exclusively on developmental pattern and behavioral observation. Two population-based studies conducted by CDC in selected U.S. locations reported ASD prevalence of 3.4 and 6.7 per 1,000 children, respectively. CDC also conducts two nationally representative surveys, the National Health Interview Survey (NHIS) and the National Survey of Children's Health (NSCH), in which parents are asked whether their child ever received a diagnosis of autism. Because of similarities in methodology used by the two surveys, CDC analyzed 2003-2004 data from NHIS and data from the first-ever NSCH (collected during January 2003-July 2004) to 1) estimate the population-based prevalence of parental report of diagnosed autism in the United States and 2) assess parental reporting of child social, emotional, and behavioral strengths and difficulties and special-health care needs among children with and without reported autism. This report describes the results of that analysis, which indicated that the prevalence of parent-reported diagnosis of autism was 5.7 per 1,000 children in NHIS and 5.5 per 1,000 children in NSCH. Prevalence estimates in the two studies were similar across age, sex, and racial/ethnic populations. The consistency in estimates between the two surveys suggests high reliability for parental report of autism. These estimates suggest that, as of 2003-2004, autism had been diagnosed in at least 300,000 U.S. children aged 4-17 years. In addition, parental reports of autism were associated with reported social, emotional, and behavioral symptoms and specialized needs. Thus, these surveys might be useful to assess health, education, and social service needs of children with autism.

Handwriting features of children with developmental coordination disorder--results of triangular evaluation.

PubMed

Rosenblum, Sara; Margieh, Jumana Aassy; Engel-Yeger, Batya

2013-11-01

Developmental coordination disorders (DCD) is one of the most common disorders affecting school-aged children. The study aimed to characterize the handwriting performance of children with DCD who write in Arabic, based on triangular evaluation. Participants included 58 children aged 11-12 years, 29 diagnosed with DCD based on the DSM-IV criteria and the M-ABC, and 29 matched typically developed controls. Children were asked to copy a paragraph on a sheet of paper affixed to a digitizer supplying objective measures of the handwriting process. The handwriting proficiency screening questionnaire (HPSQ) was completed by their teachers while observing their performance and followed by evaluation of their final written product. Results indicated that compared to controls, children with DCD required significantly more on-paper and in-air time per stroke while copying. In addition, global legibility, unrecognizable letters and spatial arrangement measures of their written product were significantly inferior. Significant group differences were also found between the HPSQ subscales scores. Furthermore, 82.8% of all participants were correctly classified into groups based on one discriminate function which included two handwriting performance measures. These study results strongly propose application of triangular standardized evaluation to receive better insight of handwriting deficit features of individual children with DCD who write in Arabic. Copyright © 2013 Elsevier Ltd. All rights reserved.

The Evolution of Neuroimaging Research and Developmental Language Disorders.

ERIC Educational Resources Information Center

Lane, Angela B.; Foundas, Anne L.; Leonard, Christiana M.

2001-01-01

This article reviews current neuroimaging literature, including computer tomography, positron emission tomography, single photon emission spectroscopy, and magnetic resonance imaging, on individuals with developmental language disorders. The review suggests a complicated relationship between cortical morphometry and language development that is…

Examining the relationships between attention deficit/hyperactivity disorder and developmental coordination disorder symptoms, and writing performance in Japanese second grade students.

PubMed

Noda, Wataru; Ito, Hiroyuki; Fujita, Chikako; Ohnishi, Masafumi; Takayanagi, Nobuya; Someki, Fumio; Nakajima, Syunji; Ohtake, Satoko; Mochizuki, Naoto; Tsujii, Masatsugu

2013-09-01

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.

Developmental dyscalculia.

PubMed

Kucian, Karin; von Aster, Michael

2015-01-01

Numerical skills are essential in our everyday life, and impairments in the development of number processing and calculation have a negative impact on schooling and professional careers. Approximately 3 to 6 % of children are affected from specific disorders of numerical understanding (developmental dyscalculia (DD)). Impaired development of number processing skills in these children is characterized by problems in various aspects of numeracy as well as alterations of brain activation and brain structure. Moreover, DD is assumed to be a very heterogeneous disorder putting special challenges to define homogeneous diagnostic criteria. Finally, interdisciplinary perspectives from psychology, neuroscience and education can contribute to the design for interventions, and although results are still sparse, they are promising and have shown positive effects on behaviour as well as brain function. In the current review, we are going to give an overview about typical and atypical development of numerical abilities at the behavioural and neuronal level. Furthermore, current status and obstacles in the definition and diagnostics of DD are discussed, and finally, relevant points that should be considered to make an intervention as successful as possible are summarized.

Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).

PubMed

Shim, Sung Han; Shim, Jae Sun; Min, Kyunghoon; Lee, Hee Song; Park, Ji Eun; Park, Sang Hee; Hwang, Euna; Kim, Minyoung

2014-01-15

Chromosome 7q36 microdeletion syndrome is a rare genomic disorder characterized by underdevelopment of the brain, microcephaly, anomalies of the sex organs, and language problems. Developmental delay, intellectual disability, autistic spectrum disorders, BDMR syndrome, and unusual facial morphology are the key features of the chromosome 2q37 microdeletion syndrome. A genetic screening for two brothers with global developmental delay using high-resolution chromosomal analysis and subtelomeric multiplex ligation-dependent probe amplification revealed subtelomeric rearrangements on the same sites of 2q37.2 and 7q35, with reversed deletion and duplication. Both of them showed dysmorphic facial features, severe disability of physical and intellectual development, and abnormal genitalia with differential abnormalities in their phenotypes. The family did not have abnormal genetic phenotypes. According to the genetic analysis of their parents, adjacent-1 segregation from their mother's was suggested as a mechanism of their gene mutation. By comparing the phenotypes of our patients with previous reports on similar patients, we tried to obtain the information of related genes and their chromosomal locations. © 2013.

Imaging evidence for disturbances in multiple learning and memory systems in persons with autism spectrum disorders.

PubMed

Goh, Suzanne; Peterson, Bradley S

2012-03-01

The aim of this article is to review neuroimaging studies of autism spectrum disorders (ASD) that examine declarative, socio-emotional, and procedural learning and memory systems. We conducted a search of PubMed from 1996 to 2010 using the terms 'autism,''learning,''memory,' and 'neuroimaging.' We limited our review to studies correlating learning and memory function with neuroimaging features of the brain. The early literature supports the following preliminary hypotheses: (1) abnormalities of hippocampal subregions may contribute to autistic deficits in episodic and relational memory; (2) disturbances to an amygdala-based network (which may include the fusiform gyrus, superior temporal cortex, and mirror neuron system) may contribute to autistic deficits in socio-emotional learning and memory; and (3) abnormalities of the striatum may contribute to developmental dyspraxia in individuals with ASD. Characterizing the disturbances to learning and memory systems in ASD can inform our understanding of the neural bases of autistic behaviors and the phenotypic heterogeneity of ASD. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Pervasive Developmental Disorders in Individuals with Cerebral Palsy

ERIC Educational Resources Information Center

Kilincaslan, Ayse; Mukaddes, Nahit Motavalli

2009-01-01

The aim of the present study was to describe the prevalence and associated factors of pervasive developmental disorders (PDD), including autistic disorder and PDD not otherwise specified (NOS), in a clinical sample of 126 children and adolescents (75 males, 51 females; age range 4-18y, mean 8y 8mo, SD 3y 8mo) with tetraplegic, hemiplegic,…

The Perception of Substance Use Disorder among Clinicians, Caregivers and Family Members of Individuals with Intellectual and Developmental Disabilities

ERIC Educational Resources Information Center

VanDerNagel, Joanne E. L.; van Duijvenbode, Neomi; Ruedrich, Stephen; Ayu, Astri P.; Schellekens, Arnt F. A.

2018-01-01

Introduction: Substance use disorders (SUD) are common among individuals with intellectual and developmental disorders (IDD). The quality of care individuals with these conditions receive can be affected by perceptions and attributions of SUD among clinicians, professional caregivers, and family members. The aim of this study was to explore such…

Mothers of Children with Developmental Disorders in the Bedouin Community in Israel: Family Functioning, Caregiver Burden, and Coping Abilities

ERIC Educational Resources Information Center

Manor-Binyamini, Iris

2011-01-01

This preliminary study compares the family functioning, caregiver burden, and coping abilities between mothers of 300 children with developmental disorders and mothers of 100 children with no such disorders in the Bedouin community in Israel. The mothers completed the McMaster Family Assessment Device Scale, the Caregiver Burden Index, and the…

Effects of Methylphenidate on Quality of Life in Children with Both Developmental Coordination Disorder and ADHD

ERIC Educational Resources Information Center

Flapper, Boudien C. T.; Schoemaker, Marina M

2008-01-01

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…

Locus of Control Fails to Mediate between Stress and Anxiety and Depression in Parents of Children with a Developmental Disorder

ERIC Educational Resources Information Center

Hamlyn-Wright, Sarah; Draghi-Lorenz, Riccardo; Ellis, Jason

2007-01-01

Stress, anxiety and depression are raised amongst parents of children with a developmental disorder. However, the processes by which stress leads to depression and anxiety are poorly understood. In a cross-sectional survey, levels of parental stress, depression and anxiety were compared between parents of children with an autistic disorder,…

Developmental Trajectories of Positive and Negative Affect in Children at High and Low Familial Risk for Depressive Disorder

ERIC Educational Resources Information Center

Olino, Thomas M.; Lopez-Duran, Nestor L.; Kovacs, Maria; George, Charles J.; Gentzler, Amy L.; Shaw, Daniel S.

2011-01-01

Background: Although low positive affect (PA) and high negative affect (NA) have been posited to predispose to depressive disorders, little is known about the developmental trajectories of these affects in children at familial risk for mood disorders. Methods: We examined 202 offspring of mothers who had a history of juvenile-onset unipolar…

Accuracy of "Modified Checklist for Autism in Toddlers" ("M-CHAT") in Detecting Autism and Other Developmental Disorders in Community Clinics

ERIC Educational Resources Information Center

Toh, Teck-Hock; Tan, Vivian Wee-Yen; Lau, Peter Sie-Teck; Kiyu, Andrew

2018-01-01

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…

The Fanconi anemia DNA repair pathway: structural and functional insights into a complex disorder.

PubMed

Walden, Helen; Deans, Andrew J

2014-01-01

Mutations in any of at least sixteen FANC genes (FANCA-Q) cause Fanconi anemia, a disorder characterized by sensitivity to DNA interstrand crosslinking agents. The clinical features of cytopenia, developmental defects, and tumor predisposition are similar in each group, suggesting that the gene products participate in a common pathway. The Fanconi anemia DNA repair pathway consists of an anchor complex that recognizes damage caused by interstrand crosslinks, a multisubunit ubiquitin ligase that monoubiquitinates two substrates, and several downstream repair proteins including nucleases and homologous recombination enzymes. We review progress in the use of structural and biochemical approaches to understanding how each FANC protein functions in this pathway.

Mucin Production and Mucous Cell Metaplasia in Otitis Media

PubMed Central

Lin, Jizhen; Caye-Thomasen, Per; Tono, Tetsuya; Zhang, Quan-An; Nakamura, Yoshihisa; Feng, Ling; Huang, Jianmin; Ye, Shengnan; Hu, Xiaohua; Kerschner, Joseph E.

2012-01-01

Otitis media (OM) with mucoid effusion, characterized by mucous cell metaplasia/hyperplasia in the middle ear cleft and thick fluid accumulation in the middle ear cavity, is a subtype of OM which frequently leads to chronic OM in young children. Multiple factors are involved in the developmental process of OM with mucoid effusion, especially disorders of mucin production resulting from middle ear bacterial infection and Eustachian tube dysfunction. In this review, we will focus on several aspects of this disorder by analyzing the cellular and molecular events such as mucin production and mucous cell differentiation in the middle ear mucosa with OM. In addition, infectious agents, mucin production triggers, and relevant signaling pathways will be discussed. PMID:22685463

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

PubMed

Lipstein, Noa; Verhoeven-Duif, Nanda M; Michelassi, Francesco E; Calloway, Nathaniel; van Hasselt, Peter M; Pienkowska, Katarzyna; van Haaften, Gijs; van Haelst, Mieke M; van Empelen, Ron; Cuppen, Inge; van Teeseling, Heleen C; Evelein, Annemieke M V; Vorstman, Jacob A; Thoms, Sven; Jahn, Olaf; Duran, Karen J; Monroe, Glen R; Ryan, Timothy A; Taschenberger, Holger; Dittman, Jeremy S; Rhee, Jeong-Seop; Visser, Gepke; Jans, Judith J; Brose, Nils

2017-03-01

Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism. Using whole-exome sequencing, we have shown that this condition is associated with a rare, de novo Pro814Leu variant in the major human Munc13 paralog UNC13A (also known as Munc13-1). Electrophysiological studies in murine neuronal cultures and functional analyses in Caenorhabditis elegans revealed that the UNC13A variant causes a distinct dominant gain of function that is characterized by increased fusion propensity of synaptic vesicles, which leads to increased initial synaptic vesicle release probability and abnormal short-term synaptic plasticity. Our study underscores the critical importance of fine-tuned presynaptic control in normal brain function. Further, it adds the neuronal Munc13 proteins and the synaptic vesicle priming process that they control to the known etiological mechanisms of psychiatric and neurological synaptopathies.

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

PubMed Central

Lipstein, Noa; Verhoeven-Duif, Nanda M.; Calloway, Nathaniel; van Hasselt, Peter M.; Pienkowska, Katarzyna; van Haelst, Mieke M.; van Empelen, Ron; Cuppen, Inge; van Teeseling, Heleen C.; Evelein, Annemieke M.V.; Vorstman, Jacob A.; Jahn, Olaf; Duran, Karen J.; Monroe, Glen R.; Ryan, Timothy A.; Taschenberger, Holger; Rhee, Jeong-Seop; Visser, Gepke; Jans, Judith J.

2017-01-01

Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles fusion-competent, and their genetic elimination causes a complete block of synaptic transmission. Here we have described a patient displaying a disorder characterized by a dyskinetic movement disorder, developmental delay, and autism. Using whole-exome sequencing, we have shown that this condition is associated with a rare, de novo Pro814Leu variant in the major human Munc13 paralog UNC13A (also known as Munc13-1). Electrophysiological studies in murine neuronal cultures and functional analyses in Caenorhabditis elegans revealed that the UNC13A variant causes a distinct dominant gain of function that is characterized by increased fusion propensity of synaptic vesicles, which leads to increased initial synaptic vesicle release probability and abnormal short-term synaptic plasticity. Our study underscores the critical importance of fine-tuned presynaptic control in normal brain function. Further, it adds the neuronal Munc13 proteins and the synaptic vesicle priming process that they control to the known etiological mechanisms of psychiatric and neurological synaptopathies. PMID:28192369

Development of the uncinate fasciculus: Implications for theory and developmental disorders.

PubMed

Olson, Ingrid R; Von Der Heide, Rebecca J; Alm, Kylie H; Vyas, Govinda

2015-08-01

The uncinate fasciculus (UF) is a long-range white matter tract that connects limbic regions in the temporal lobe to the frontal lobe. The UF is one of the latest developing tracts, and continues maturing into the third decade of life. As such, individual differences in the maturational profile of the UF may serve to explain differences in behavior. Indeed, atypical macrostructure and microstructure of the UF have been reported in numerous studies of individuals with developmental and psychiatric disorders such as social deprivation and maltreatment, autism spectrum disorders, conduct disorder, risk taking, and substance abuse. The present review evaluates what we currently know about the UF's developmental trajectory and reviews the literature relating UF abnormalities to specific disorders. Additionally, we take a dimensional approach and critically examine symptoms and behavioral impairments that have been demonstrated to cluster with UF aberrations, in an effort to relate these impairments to our speculations regarding the functionality of the UF. We suggest that developmental disorders with core problems relating to memory retrieval, reward and valuation computation, and impulsive decision making may be linked to aberrations in uncinate microstructure. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

Early developmental characteristics and features of major depressive disorder among child psychiatric patients in Hungary.

PubMed

Kapornai, Krisztina; Gentzler, Amy L; Tepper, Ping; Kiss, Eniko; Mayer, László; Tamás, Zsuzsanna; Kovacs, Maria; Vetró, Agnes

2007-06-01

We investigate the relations of early atypical characteristics (perinatal problems, developmental delay, and difficult temperament) and onset-age (as well as severity of) first major depressive disorder (MDD) and first internalizing disorder in a clinical sample of depressed children in Hungary. Participants were 371 children (ages 7-14) with MDD, and their biological mothers, recruited through multiple clinical sites. Diagnoses (via DSM-IV criteria) and onset dates of disorders were finalized "best estimate" psychiatrists, and based on multiple information sources. Mothers provided developmental data in a structured interview. Difficult temperament predicted earlier onset of MDD and first internalizing disorder, but its effect was ameliorated if the family was intact during early childhood. Further, the importance of difficult temperament decreased as a function of time. Perinatal problems and developmental delay did not impact onset ages of disorders, and none of the early childhood characteristics associated with MDD episode severity. Children with MDD may have added disadvantage of earlier onset if they had a difficult temperament in infancy. Because early temperament mirrors physiological reactivity and regulatory capacity, it can affect various areas of functioning related to psychopathology. Early caregiver stability may attenuate some adverse effects of difficult infant temperament.

The Assessment of Bipolar Disorder in Children and Adolescents

PubMed Central

Youngstrom, Eric A.; Freeman, Andrew J.; Jenkins, Melissa McKeown

2010-01-01

The overarching goal of this review is to examine the current best evidence for assessing bipolar disorder in children and adolescents and provide a comprehensive, evidence-based approach to diagnosis. Evidence-based assessment strategies are organized around the “3 Ps” of clinical assessment: Predict important criteria or developmental trajectories, Prescribe a change in treatment choice, and inform Process of treating the youth and his/her family. The review characterizes bipolar disorder in youths - specifically addressing bipolar diagnoses and clinical subtypes; then provides an actuarial approach to assessment - using prevalence of disorder, risk factors, and questionnaires; discusses treatment thresholds; and identifies practical measures of process and outcomes. The clinical tools and risk factors selected for inclusion in this review represent the best empirical evidence in the literature. By the end of the review, clinicians will have a framework and set of clinically useful tools with which to effectively make evidence-based decisions regarding the diagnosis of bipolar disorder in children and adolescents. PMID:19264268

Speech Perception and Short Term Memory Deficits in Persistent Developmental Speech Disorder

PubMed Central

Kenney, Mary Kay; Barac-Cikoja, Dragana; Finnegan, Kimberly; Jeffries, Neal; Ludlow, Christy L.

2008-01-01

Children with developmental speech disorders may have additional deficits in speech perception and/or short-term memory. To determine whether these are only transient developmental delays that can accompany the disorder in childhood or persist as part of the speech disorder, adults with a persistent familial speech disorder were tested on speech perception and short-term memory. Nine adults with a persistent familial developmental speech disorder without language impairment were compared with 20 controls on tasks requiring the discrimination of fine acoustic cues for word identification and on measures of verbal and nonverbal short-term memory. Significant group differences were found in the slopes of the discrimination curves for first formant transitions for word identification with stop gaps of 40 and 20 ms with effect sizes of 1.60 and 1.56. Significant group differences also occurred on tests of nonverbal rhythm and tonal memory, and verbal short-term memory with effect sizes of 2.38, 1.56 and 1.73. No group differences occurred in the use of stop gap durations for word identification. Because frequency-based speech perception and short-term verbal and nonverbal memory deficits both persisted into adulthood in the speech-impaired adults, these deficits may be involved in the persistence of speech disorders without language impairment. PMID:15896836

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

PubMed

Clarke, Nigel F; Andrews, Ian; Carpenter, Kevin; Jakobs, Cornelis; van der Knaap, Marjo S; Kirk, Edwin P

2003-08-01

D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness, and profound developmental delay, or a mild course characterized by mild developmental delay, manageable epilepsy, and mild hypotonia. To date there has been a clear distinction between these two groups. We report the second case of a child with D2HGA who has followed an intermediate course. She presented in infancy with hypotonia, manageable epilepsy and developed moderate to severe developmental delay, and cortical visual impairment. The proposita had a coarse facial appearance, flat face, broad nasal bridge, up-turned nose, and simple, anteverted ears. These facial anomalies have been noted in other children with D2HGA and this case strengthens the proposed association between this facial phenotype and D2HGA. We also report the third and fourth instances of prenatal diagnosis for D2HGA. At each prenatal diagnosis, an affected fetus was diagnosed on the basis of markedly increased levels of D-2-hydroxyglutaric acid in amniotic fluid. Copyright 2003 Wiley-Liss, Inc.

Longitudinal phenotypes for alcoholism: Heterogeneity of course, early identifiers, and life course correlates.

PubMed

Jester, Jennifer M; Buu, Anne; Zucker, Robert A

2016-11-01

Alcoholism is a heterogeneous disorder; however, characterization of life-course variations in symptomatology is almost nonexistent, and developmentally early predictors of variations are very poorly characterized. In this study, the course of alcoholic symptomatology over 32 years is differentiated, and predictors and covariates of trajectory class membership are identified. A community sample of alcoholic and neighborhood matched control families, 332 men and 336 women, was recruited based on alcoholism in the men. Symptoms were assessed retrospectively at baseline (mean age = 32) back to age 15 and prospectively from baseline every 3 years for 15 years. Trajectory classes were established using growth mixture modeling. Men and women had very similarly shaped trajectory classes: developmentally limited (men: 29%, women: 42%), developmentally cumulative (men: 26%, women: 38%), young adult onset (men: 31%, women: 21%), and early onset severe (men: 13%). Three factors at age 15 predicted class membership: family history of alcoholism, age 15 symptoms, and level of childhood antisocial behavior. Numerous measures of drinking and other psychopathology were also associated with class membership. The findings suggest that clinical assessments can be crafted where the profile of current and historical information can predict not only severity of prognosis but also future moderation of symptoms and/or remission over intervals as long as decades.

Developmental psychopathology: Attention Deficit Hyperactivity Disorder (ADHD)

PubMed Central

Schmidt, Sören; Petermann, Franz

2009-01-01

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. PMID:19761584

Differences in adjustment by child developmental stage among caregivers of children with disorders of sex development

PubMed Central

2011-01-01

Background The current study sought to compare levels of overprotection and parenting stress reported by caregivers of children with disorders of sex development at four different developmental stages. Methods Caregivers (N = 59) of children with disorders of sex development were recruited from specialty clinics and were asked to complete the Parent Protection Scale and Parenting Stress Index/Short Form as measures of overprotective behaviors and parenting stress, respectively. Results Analyses of covariance (ANCOVAs) were conducted to examine differences between caregiver report of overprotection and parenting stress. Results revealed that caregivers of infants and toddlers exhibited more overprotective behaviors than caregivers of children in the other age groups. Further, caregivers of adolescents experienced significantly more parenting stress than caregivers of school-age children, and this effect was driven by personal distress and problematic parent-child interactions, rather than having a difficult child. Conclusions These results suggest that caregivers of children with disorders of sex development may have different psychosocial needs based upon their child's developmental stage and based upon the disorder-related challenges that are most salient at that developmental stage. PMID:22074416

Study to Determine Whether There Are Any Cognitive or Motor Effects From Taking the Medicine Risperidone.

ClinicalTrials.gov

2016-06-21

Oppositional Defiant Disorder; Conduct Disorder; Attention Deficit/Hyperactivity Disorder (ADHD); Intermittent Explosive Disorder; Impulse-Control Disorders; Adjustment Disorder; Bipolar Disorder; Pervasive Developmental Disorder

[An investigation of the imitation skills in children with autism spectrum disorder and their association with receptive-expressive language development].

PubMed

Turan, Figen; Ökçün Akçamuş, Meral Çilem

2013-01-01

This study aimed to compare imitation skills in children with autism spectrum disorder, and age-matched typically developing children and children with developmental delay, as well as to examine the association between imitation skills, and receptive and expressive language development in children with autism spectrum disorder. Imitation skills in children with autism spectrum disorder (n=18), and age-matched children with developmental delay (n=15) and typically developing children (n= 16) were assessed using the Motor Imitation Scale and Imitation Battery, and the differences in mean imitation scores between the groups were examined. Receptive language and expressive language development in the children with autism spectrum disorder were assessed using the Turkish Communicative Development Inventory (TCDI), and their association with imitation scores was explored. The children with autism spectrum disorder had significantly lower imitation scores than the children with developmental delay and typically developing children; however, there wasn't a significant difference in imitation scores between the children with developmental delay and typically developing children. A significant association between imitation scores, and receptive and expressive language development was observed in the children with autism spectrum disorder. The present findings indicate that deficient imitation skills are a distinctive feature of children with autism spectrum disorder and that imitation skills play a crucial role in children's language development.

[Contemporary cognitive theories about developmental dyscalculia].

PubMed

Castro-Cañizares, D; Estévez-Pérez, N; Reigosa-Crespo, V

To analyze the current theories describing the cognitive mechanisms underlying developmental dyscalculia. The four most researched hypotheses concerning the cognitive deficits related to developmental dyscalculia, as well as experimental evidences supporting or refusing them are presented. The first hypothesis states that developmental dyscalculia is consequence of domain general cognitive deficits. The second hypothesis suggests that it is due to a failure in the development of specialized brain systems dedicated to numerosity processing. The third hypothesis asserts the disorder is caused by a deficit in accessing quantity representation through numerical symbols. The last hypothesis states developmental dyscalculia appears as a consequence of impairments in a generalized magnitude system dedicated to the processing of continuous and discrete magnitudes. None of the hypotheses has been proven more plausible than the rest. Relevant issues rose by them need to be revisited and answered in the light of new experimental designs. In the last years the understanding of cognitive disorders involved in developmental dyscalculia has remarkably increased, but it is nonetheless insufficient. Additional research is required in order to achieve a comprehensive cognitive model of numerical processing development and its disorders. This will improve the diagnostic precision and the effectiveness of developmental dyscalculia intervention strategies.

Developmental neurotoxicity of traffic-related air pollution: focus on autism

PubMed Central

Costa, Lucio G.; Chang, Yu-Chi; Cole, Toby B.

2018-01-01

Purpose of Review Epidemiological and animal studies suggest that air pollution may negatively affect the central nervous system (CNS) and contribute to CNS diseases. Traffic-related air pollution is a major contributor to global air pollution, and diesel exhaust (DE) is its most important component. Recent findings Several studies suggest that young individuals may be particularly susceptible to air pollution-induced neurotoxicity, and that perinatal exposure may cause or contribute to developmental disabilities and behavioral abnormalities. In particular, a number of recent studies have found associations between exposures to traffic-related air pollution and autism spectrum disorders (ASD), which are characterized by impairment in socialization and in communication, and by the presence of repetitive and unusual behaviors. The cause(s) of ASD are unknown, and while it may have a hereditary component, environmental factors are increasingly suspected as playing a pivotal role in its etiology, particularly in genetically susceptible individuals. Summary Autistic children present higher levels of neuroinflammation and systemic inflammation, which are also hallmarks of exposure to traffic-related air pollution. Gene-environment interactions may play a relevant role in determining individual susceptibility to air pollution developmental neurotoxicity. Given the worldwide presence of elevated air pollution, studies on its effects and mechanisms on the developing brain, genetic susceptibility, role in neurodevelopmental disorders, and possible therapeutic interventions, are certainly warranted. PMID:28417440

Communication in autism spectrum disorder: a guide for pediatric nurses.

PubMed

Brown, Amanda B; Elder, Jennifer H

2014-01-01

In the United States, one in every 68 children has autism spectrum disorder (ASD) (Centers for Disease Control and Prevention, 2014). ASD is a developmental disorder of the brain that is characterized by impairments in social interaction, communication, and repetitive patterns of behavior (American Psychiatric Association [APA], 2013). Nurses have a duty to provide high quality care to children with ASD. Effective communication is essential to providing quality care. Three main theories attempt to explain how the ASD brain functions and the implications on communication: lack of theory of mind, weak central coherence, and lack of executive function. Children with ASD have difficulties in vocalic, kinesthetic, and proxemic aspects of communication (Notbhom, 2006). Simple adaptations to environment and style can make the communication between nurses and children with ASD easier and more effective (Aylott, 2000; Green et al., 2010).

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.

PubMed

Dupré, Nicolas; Howard, Heidi C; Mathieu, Jean; Karpati, George; Vanasse, Michel; Bouchard, Jean-Pierre; Carpenter, Stirling; Rouleau, Guy A

2003-07-01

Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay-Lac-St-Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein-truncating mutation in the SLC12A6 gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies.

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.

PubMed

Green Snyder, LeeAnne; D'Angelo, Debra; Chen, Qixuan; Bernier, Raphael; Goin-Kochel, Robin P; Wallace, Arianne Stevens; Gerdts, Jennifer; Kanne, Stephen; Berry, Leandra; Blaskey, Lisa; Kuschner, Emily; Roberts, Timothy; Sherr, Elliot; Martin, Christa L; Ledbetter, David H; Spiro, John E; Chung, Wendy K; Hanson, Ellen

2016-08-01

The 16p11.2 duplication (BP4-BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors.

Toward a Neuroscience of Adult Cognitive Developmental Theory

PubMed Central

Girgis, Fady; Lee, Darrin J.; Goodarzi, Amir; Ditterich, Jochen

2018-01-01

Piaget's genetic epistemology has provided the constructivist approach upon which child developmental theories were founded, in that infants are thought to progress through distinct cognitive stages until they reach maturity in their early 20's. However, it is now well established that cognition continues to develop after early adulthood, and several “neo-Piagetian” theories have emerged in an attempt to better characterize adult cognitive development. For example, Kegan's Constructive Developmental Theory (CDT) argues that the thought processes used by adults to construct their reality change over time, and reaching higher stages of cognitive development entails becoming objectively aware of emotions and beliefs that were previously in the realm of the subconscious. In recent years, neuroscience has shown a growing interest in the biological substrates and neural mechanisms encompassing adult cognitive development, because psychological and psychiatric disorders can arise from deficiencies therein. In this article, we will use Kegan's CDT as a framework to discuss adult cognitive development in relation to closely correlated existing constructs underlying social processing, such as the perception of self and others. We will review the functional imaging and electrophysiologic evidence behind two key concepts relating to these posited developmental changes. These include self-related processing, a field that distinguishes between having conscious experiences (“being a self”) and being aware of oneself having conscious experiences (“being aware of being a self”); and theory of mind, which is the objective awareness of possessing mental states such as beliefs and desires (i.e., having a “mind”) and the understanding that others possess mental states that can be different from one's own. We shall see that cortical midline structures, including the medial prefrontal cortex and cingulate gyrus, as well as the temporal lobe, are associated with psychological tasks that test these models. In addition, we will review computational modeling approaches to cognitive development, and show how mathematical modeling can provide insights into how sometimes continuous changes in the neural processing substrate can give rise to relatively discrete developmental stages. Because deficiencies in adult cognitive development can result in disorders such as autism and depression, bridging the gaps between developmental psychology, neuroscience, and modeling has potential implications for clinical practice. As neuromodulation techniques such as deep brain and transcranial stimulation continue to advance, interfacing with these systems may lead to the emergence of novel investigational methods and therapeutic strategies in adults suffering from developmental disorders. PMID:29410608

Autism spectrum disorder - childhood disintegrative disorder

MedlinePlus

... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... ed. Arlington, VA: American Psychiatric Publishing: 2013;50-59. ...

Development and Psychometric Evaluation of a Psychosocial Quality-of-Life Questionnaire for Individuals with Autism and Related Developmental Disorders

ERIC Educational Resources Information Center

Markowitz, Leslie A.; Reyes, Charina; Embacher, Rebecca A.; Speer, Leslie L.; Roizen, Nancy; Frazier, Thomas W.

2016-01-01

This study investigated the psychometric properties of the Child and Family Quality of Life scale, a measure of psychosocial quality of life in those with autism and related developmental disorders. Parents of 212 children suspected of autism spectrum disorder completed the Child and Family Quality of Life prior to a diagnostic evaluation. Results…

The Effectiveness of Exercise Intervention on Inhibitory Control in Children with Developmental Coordination Disorder: Using a Visuospatial Attention Paradigm as a Model

ERIC Educational Resources Information Center

Tsai, Chia-Liang

2009-01-01

Children with developmental coordination disorder (DCD) have been demonstrated to show a deficit of inhibitory control in volitional shifts of attention. The aim of this study was to use ecological intervention to investigate the efficacy of table-tennis training on treating both problems with attentional networks and motor disorder in children…

Psychometric Properties of Spanish Adaptation of the PDD-MRS Scale in Adults with Intellectual Developmental Disorders: The EVTEA-DI Scale

ERIC Educational Resources Information Center

Cortés, Maria José; Orejuela, Carmen; Castellví, Gemma; Folch, Annabel; Rovira, Lluís; Salvador-Carulla, Luis; Irazábal, Marcia; Muñoz, Silvia; Haro, Josep Maria; Vilella, Elisabet; Martínez-Leal, Rafael

2018-01-01

Strategies for the early detection of autism spectrum disorders (ASD) in people with intellectual developmental disorder (IDD) are urgently needed, but few specific tools have been developed. The present study examines the psychometric properties of the EVTEA-DI, a Spanish adaptation of the PDD-MRS, in a large randomized sample of 979 adults with…

Changes in the Population of Persons with Autism and Pervasive Developmental Disorders in California's Developmental Services System: 1987 through 1998. A Report to the Legislature, March 1, 1999.

ERIC Educational Resources Information Center

California State Dept. of Developmental Services, Sacramento.

This report discusses the results of an analysis of demographic and Client Development Evaluation Record data compiled at each of the 21 regional centers in California serving individuals with autism and pervasive developmental disorders. Data covering a period of 11 years, beginning in January 1987 and continuing through December 1998, show that…

Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

PubMed Central

Cid, Elena; Gomez-Dominguez, Daniel; Martin-Lopez, David; Gal, Beatriz; Laurent, François; Ibarz, Jose M.; Francis, Fiona; Menendez de la Prida, Liset

2014-01-01

Developmental cortical malformations comprise a large spectrum of histopathological brain abnormalities and syndromes. Their genetic, developmental and clinical complexity suggests they should be better understood in terms of the complementary action of independently timed perturbations (i.e., the multiple-hit hypothesis). However, understanding the underlying biological processes remains puzzling. Here we induced developmental cortical malformations in offspring, after intraventricular injection of methylazoxymethanol (MAM) in utero in mice. We combined extensive histological and electrophysiological studies to characterize the model. We found that MAM injections at E14 and E15 induced a range of cortical and hippocampal malformations resembling histological alterations of specific genetic mutations and transplacental mitotoxic agent injections. However, in contrast to most of these models, intraventricularly MAM-injected mice remained asymptomatic and showed no clear epilepsy-related phenotype as tested in long-term chronic recordings and with pharmacological manipulations. Instead, they exhibited a non-specific reduction of hippocampal-related brain oscillations (mostly in CA1); including theta, gamma and HFOs; and enhanced thalamocortical spindle activity during non-REM sleep. These data suggest that developmental cortical malformations do not necessarily correlate with epileptiform activity. We propose that the intraventricular in utero MAM approach exhibiting a range of rhythmopathies is a suitable model for multiple-hit studies of associated neurological disorders. PMID:24782720

Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations.

PubMed

Cid, Elena; Gomez-Dominguez, Daniel; Martin-Lopez, David; Gal, Beatriz; Laurent, François; Ibarz, Jose M; Francis, Fiona; Menendez de la Prida, Liset

2014-01-01

Developmental cortical malformations comprise a large spectrum of histopathological brain abnormalities and syndromes. Their genetic, developmental and clinical complexity suggests they should be better understood in terms of the complementary action of independently timed perturbations (i.e., the multiple-hit hypothesis). However, understanding the underlying biological processes remains puzzling. Here we induced developmental cortical malformations in offspring, after intraventricular injection of methylazoxymethanol (MAM) in utero in mice. We combined extensive histological and electrophysiological studies to characterize the model. We found that MAM injections at E14 and E15 induced a range of cortical and hippocampal malformations resembling histological alterations of specific genetic mutations and transplacental mitotoxic agent injections. However, in contrast to most of these models, intraventricularly MAM-injected mice remained asymptomatic and showed no clear epilepsy-related phenotype as tested in long-term chronic recordings and with pharmacological manipulations. Instead, they exhibited a non-specific reduction of hippocampal-related brain oscillations (mostly in CA1); including theta, gamma and HFOs; and enhanced thalamocortical spindle activity during non-REM sleep. These data suggest that developmental cortical malformations do not necessarily correlate with epileptiform activity. We propose that the intraventricular in utero MAM approach exhibiting a range of rhythmopathies is a suitable model for multiple-hit studies of associated neurological disorders.

Unraveling the Miswired Connectome: A Developmental Perspective

PubMed Central

Di Martino, Adriana; Fair, Damien A.; Kelly, Clare; Satterthwaite, Theodore D.; Castellanos, F. Xavier; Thomason, Moriah E.; Craddock, R. Cameron; Luna, Beatriz; Leventhal, Bennett L.; Zuo, Xi-Nian; Milham, Michael P.

2014-01-01

Summary The vast majority of mental illnesses can be conceptualized as developmental disorders of neural interactions within the connectome, or developmental miswiring. The recent maturation of pediatric in vivo brain imaging is bringing within reach the identification of clinically meaningful brain-based biomarkers of developmental disorders. Even more auspicious, is the ability to study the evolving connectome throughout life, beginning in utero, which promises to move the field from topological phenomenology to etiological nosology. Here, we scope advances in pediatric imaging of the brain connectome as the field faces the challenge of unraveling developmental miswiring. We highlight promises while also providing a pragmatic review of the many obstacles ahead that must be overcome to significantly impact public health. PMID:25233316

Brief Report: Representational Momentum for Dynamic Facial Expressions in Pervasive Developmental Disorder

ERIC Educational Resources Information Center

Uono, Shota; Sato, Wataru; Toichi, Motomi

2010-01-01

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…

De novo mutations in regulatory elements in neurodevelopmental disorders

PubMed Central

Short, Patrick J.; McRae, Jeremy F.; Gallone, Giuseppe; Sifrim, Alejandro; Won, Hyejung; Geschwind, Daniel H.; Wright, Caroline F.; Firth, Helen V; FitzPatrick, David R.; Barrett, Jeffrey C.; Hurles, Matthew E.

2018-01-01

We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We identified de novo mutations in three classes of putative regulatory elements in almost 8,000 patients with developmental disorders. Here we show that de novo mutations in highly evolutionarily conserved fetal brain-active elements are significantly and specifically enriched in neurodevelopmental disorders. We identified a significant twofold enrichment of recurrently mutated elements. We estimate that, genome-wide, 1-3% of patients without a diagnostic coding variant carry pathogenic de novo mutations in fetal brain-active regulatory elements and that only 0.15% of all possible mutations within highly conserved fetal brain-active elements cause neurodevelopmental disorders with a dominant mechanism. Our findings represent a robust estimate of the contribution of de novo mutations in regulatory elements to this genetically heterogeneous set of disorders, and emphasize the importance of combining functional and evolutionary evidence to identify regulatory causes of genetic disorders. PMID:29562236

A novel PTCH1 mutation in a patient with Gorlin syndrome

PubMed Central

Okamoto, Nana; Naruto, Takuya; Kohmoto, Tomohiro; Komori, Takahide; Imoto, Issei

2014-01-01

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer to analyze genes associated with known clinical phenotypes in an 11-year-old male with sporadic jaw keratocysts. A novel duplication mutation (c.426dup) in PTCH1, resulting in a truncated protein, was identified. PMID:27081512

A novel PTCH1 mutation in a patient with Gorlin syndrome.

PubMed

Okamoto, Nana; Naruto, Takuya; Kohmoto, Tomohiro; Komori, Takahide; Imoto, Issei

2014-01-01

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer to analyze genes associated with known clinical phenotypes in an 11-year-old male with sporadic jaw keratocysts. A novel duplication mutation (c.426dup) in PTCH1, resulting in a truncated protein, was identified.

Lymphoedema in Hereditary Recurrent Cholestasis from Birth

PubMed Central

Aagenaes, Øystein; Sigstad, Helge; Bjørn-Hansen, Ragnar

1970-01-01

An inherited disorder characterized by a combination of lymphoedema and intrahepatic cholestasis is described in a Norwegian kindred. The jaundice is evident soon after birth, and recurrent episodes occur throughout life. The oedema starts at about school age and subsequently progresses; it is due to hypoplasia of the lymph vessels of the lower extremities. The cause of the cholestasis has not been established, but a structural intrahepatic developmental defect is suggested. ImagesFIG. 2FIG. 3FIG. 4FIG. 5FIG. 6 PMID:5477684

Reliability and Validity of the MINI International Neuropsychiatric Interview for Children and Adolescents (MINI-KID)

ClinicalTrials.gov

2009-02-13

Major Depression; Mania; Anxiety Disorders; Psychotic Disorder; Alcohol Dependence; Drug Dependence; Eating Disorders; Suicidality; Dysthymia; ADHD; Tourettes Disorder; Conduct Disorder; Oppositional Defiant Disorder; Pervasive Developmental Disorder

Internalizing and externalizing psychopathology as predictors of cannabis use disorder onset during adolescence and early adulthood.

PubMed

Farmer, Richard F; Seeley, John R; Kosty, Derek B; Gau, Jeff M; Duncan, Susan C; Lynskey, Michael T; Lewinsohn, Peter M

2015-09-01

Risk-related liabilities associated with the development of cannabis use disorders (CUDs) during adolescence and early adulthood are thought to be established well before the emergence of the index episode. In this study, internalizing and externalizing psychopathology from earlier developmental periods were evaluated as risk factors for CUDs during adolescence and early adulthood. Participants (N = 816) completed 4 diagnostic assessments between the ages 16 and 30, during which current and past CUDs were assessed as well as a full range of psychiatric disorders associated with internalizing and externalizing psychopathology domains. In unadjusted and adjusted time-to-event analyses, externalizing but not internalizing psychopathology from proximal developmental periods predicted subsequent CUD onset. A large proportion of adolescent and early adult cases, however, did not manifest any externalizing or internalizing psychopathology during developmental periods before CUD onset. Findings are consistent with the emerging view that externalizing disorders from proximal developmental periods are robust risk factors for CUDs. Although the identification of externalizing liabilities may aid in the identification of individuals at risk for embarking on developmental pathways that culminate in CUDs, such liabilities are an incomplete indication of overall risk. (c) 2015 APA, all rights reserved).

Psychotherapy for Anxiety in Children With Autism Spectrum Disorder

ClinicalTrials.gov

2017-11-30

Autism Spectrum Disorders; Autism; Asperger's Syndrome; Pervasive Developmental Disability - Not Otherwise Specified; Obsessive-compulsive Disorder; Social Phobia; Generalized Anxiety Disorder; Specific Phobia; Separation Anxiety Disorder

The Role of ADHD in Predicting the Development of Violent Behavior Among Juvenile Offenders: Participation Versus Frequency.

PubMed

Wojciechowski, Thomas W

2017-10-01

Past research has identified attention-deficit/hyperactivity disorder (ADHD) as a risk factor for engagement in violent offending. Despite the link between the disorder and violent offending, this risk factor has yet to be examined as a predictor of heterogeneity in the development of violent offending among juvenile offenders. It is likely that the impulsivity, genetic link, and generally chronic disorder course which are characteristics of the disorder play roles in predicting violent offending, which is consistent with both self-control theory and general developmental theory related to early life deficits and life-course persistent offending. Past research has also elucidated a developmental trajectory model of violent offending, which is utilized by the present research. The present research examines ADHD as a risk factor predicting trajectory group assignment. The Pathways to Desistance data followed 1,354 juvenile offenders for 84 months following conviction for a serious offense. Using multinomial logistic regression, this study extends past research on the development of violent offending among juvenile offenders by examining ADHD as a risk factor predicting assignment to violent offending trajectory groups. Results indicate that meeting criteria for ADHD at baseline predicted membership to all trajectory groups relative to the Abstaining group when all covariates were included. This increase in risk is highest for the trajectory group characterized by the highest frequency of violent offending. This indicates the relevance of identifying and treating ADHD among juvenile offenders to best mitigate risk of violent recidivism throughout adolescence and early adulthood.

Holistic face training enhances face processing in developmental prosopagnosia

PubMed Central

Cohan, Sarah; Nakayama, Ken

2014-01-01

Prosopagnosia has largely been regarded as an untreatable disorder. However, recent case studies using cognitive training have shown that it is possible to enhance face recognition abilities in individuals with developmental prosopagnosia. Our goal was to determine if this approach could be effective in a larger population of developmental prosopagnosics. We trained 24 developmental prosopagnosics using a 3-week online face-training program targeting holistic face processing. Twelve subjects with developmental prosopagnosia were assessed before and after training, and the other 12 were assessed before and after a waiting period, they then performed the training, and were then assessed again. The assessments included measures of front-view face discrimination, face discrimination with view-point changes, measures of holistic face processing, and a 5-day diary to quantify potential real-world improvements. Compared with the waiting period, developmental prosopagnosics showed moderate but significant overall training-related improvements on measures of front-view face discrimination. Those who reached the more difficult levels of training (‘better’ trainees) showed the strongest improvements in front-view face discrimination and showed significantly increased holistic face processing to the point of being similar to that of unimpaired control subjects. Despite challenges in characterizing developmental prosopagnosics’ everyday face recognition and potential biases in self-report, results also showed modest but consistent self-reported diary improvements. In summary, we demonstrate that by using cognitive training that targets holistic processing, it is possible to enhance face perception across a group of developmental prosopagnosics and further suggest that those who improved the most on the training task received the greatest benefits. PMID:24691394

Children with Autism in Ethiopia: Diagnosis, Laws, and Educational and Behavioral Intervention

ERIC Educational Resources Information Center

Zeleke, Waganesh

2015-01-01

Since the late 1990s, the law, education, and intervention regarding childhood developmental disorders in Ethiopia have experienced significant reforms and development. However, education and intervention for children with severe developmental disabilities, especially children with autism spectrum disorders (ASD), still suffer the greatest…

Physical Fitness in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Schott, Nadja; Alof, Verena; Hultsch, Daniela; Meermann, Dagmar

2007-01-01

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…

Effectiveness of Vocabulary Intervention for Older Children with (Developmental) Language Disorder

ERIC Educational Resources Information Center

Wright, Lisa; Pring, Tim; Ebbels, Susan

2018-01-01

Background: 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…

Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.

PubMed

Marino, Bradley S; Lipkin, Paul H; Newburger, Jane W; Peacock, Georgina; Gerdes, Marsha; Gaynor, J William; Mussatto, Kathleen A; Uzark, Karen; Goldberg, Caren S; Johnson, Walter H; Li, Jennifer; Smith, Sabrina E; Bellinger, David C; Mahle, William T

2012-08-28

The goal of this statement was to review the available literature on surveillance, screening, evaluation, and management strategies and put forward a scientific statement that would comprehensively review the literature and create recommendations to optimize neurodevelopmental outcome in the pediatric congenital heart disease (CHD) population. A writing group appointed by the American Heart Association and American Academy of Pediatrics reviewed the available literature addressing developmental disorder and disability and developmental delay in the CHD population, with specific attention given to surveillance, screening, evaluation, and management strategies. MEDLINE and Google Scholar database searches from 1966 to 2011 were performed for English-language articles cross-referencing CHD with pertinent search terms. The reference lists of identified articles were also searched. The American College of Cardiology/American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. A management algorithm was devised that stratified children with CHD on the basis of established risk factors. For those deemed to be at high risk for developmental disorder or disabilities or for developmental delay, formal, periodic developmental and medical evaluations are recommended. A CHD algorithm for surveillance, screening, evaluation, reevaluation, and management of developmental disorder or disability has been constructed to serve as a supplement to the 2006 American Academy of Pediatrics statement on developmental surveillance and screening. The proposed algorithm is designed to be carried out within the context of the medical home. This scientific statement is meant for medical providers within the medical home who care for patients with CHD. Children with CHD are at increased risk of developmental disorder or disabilities or developmental delay. Periodic developmental surveillance, screening, evaluation, and reevaluation throughout childhood may enhance identification of significant deficits, allowing for appropriate therapies and education to enhance later academic, behavioral, psychosocial, and adaptive functioning.

Varieties of preschool hyperactivity: multiple pathways from risk to disorder.

PubMed

Sonuga-Barke, Edmund J S; Auerbach, Judith; Campbell, Susan B; Daley, David; Thompson, Margaret

2005-03-01

In this paper we examine the characteristics of preschool attention deficit hyperactivity disorder (ADHD) from both mental disorder and developmental psychopathology points of view. The equivalence of preschool and school-aged hyperactivity as a behavioral dimension is highlighted together with the potential value of extending the use of the ADHD diagnostic category to the preschool period where these behaviours take an extreme and impairing form (assuming age appropriate diagnostic items and thresholds can be developed). At the same time, the importance of identifying pathways between risk and later ADHD is emphasized. Developmental discontinuity and heterogeneity are identified as major characteristics of these pathways. We argue that models that distinguish among different developmental types of early-emerging problems are needed. An illustrative taxonomy of four developmental pathways implicating preschool hyperactivity is presented to provide a framework for future research.

Developmental cognitive genetics: How psychology can inform genetics and vice versa

PubMed Central

Bishop, Dorothy V. M.

2006-01-01

Developmental neuropsychology is concerned with uncovering the underlying basis of developmental disorders such as specific language impairment (SLI), developmental dyslexia, and autistic disorder. Twin and family studies indicate that genetic influences play an important part in the aetiology of all of these disorders, yet progress in identifying genes has been slow. One way forward is to cut loose from conventional clinical criteria for diagnosing disorders and to focus instead on measures of underlying cognitive mechanisms. Psychology can inform genetics by clarifying what the key dimensions are for heritable phenotypes. However, it is not a one-way street. By using genetically informative designs, one can gain insights about causal relationships between different cognitive deficits. For instance, it has been suggested that low-level auditory deficits cause phonological problems in SLI. However, a twin study showed that, although both types of deficit occur in SLI, they have quite different origins, with environmental factors more important for auditory deficit, and genes more important for deficient phonological short-term memory. Another study found that morphosyntactic deficits in SLI are also highly heritable, but have different genetic origins from impairments of phonological short-term memory. A genetic perspective shows that a search for the underlying cause of developmental disorders may be misguided, because they are complex and heterogeneous and are associated with multiple risk factors that only cause serious disability when they occur in combination. PMID:16769616

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.

PubMed

Wright, Caroline F; McRae, Jeremy F; Clayton, Stephen; Gallone, Giuseppe; Aitken, Stuart; FitzGerald, Tomas W; Jones, Philip; Prigmore, Elena; Rajan, Diana; Lord, Jenny; Sifrim, Alejandro; Kelsell, Rosemary; Parker, Michael J; Barrett, Jeffrey C; Hurles, Matthew E; FitzPatrick, David R; Firth, Helen V

2018-01-11

PurposeGiven the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new knowledge.MethodsWe tested this hypothesis in the United Kingdom-wide Deciphering Developmental Disorders study, where in 2014 we reported a diagnostic yield of 27% through whole-exome sequencing of 1,133 children with severe developmental disorders and their parents. We reanalyzed existing data using improved variant calling methodologies, novel variant detection algorithms, updated variant annotation, evidence-based filtering strategies, and newly discovered disease-associated genes.ResultsWe are now able to diagnose an additional 182 individuals, taking our overall diagnostic yield to 454/1,133 (40%), and another 43 (4%) have a finding of uncertain clinical significance. The majority of these new diagnoses are due to novel developmental disorder-associated genes discovered since our original publication.ConclusionThis study highlights the importance of coupling large-scale research with clinical practice, and of discussing the possibility of iterative reanalysis and recontact with patients and health professionals at an early stage. We estimate that implementing parent-offspring whole-exome sequencing as a first-line diagnostic test for developmental disorders would diagnose >50% of patients.GENETICS in MEDICINE advance online publication, 11 January 2018; doi:10.1038/gim.2017.246.

The First Year Inventory: a longitudinal follow-up of 12-month-old to 3-year-old children.

PubMed

Turner-Brown, Lauren M; Baranek, Grace T; Reznick, J Steven; Watson, Linda R; Crais, Elizabeth R

2013-09-01

The First Year Inventory is a parent-report measure designed to identify 12-month-old infants at risk for autism spectrum disorder. First Year Inventory taps behaviors that indicate risk in the developmental domains of sensory-regulatory and social-communication functioning. This longitudinal study is a follow-up of 699 children at 3 years of age from a community sample whose parents completed the First Year Inventory when their children were 12 months old. Parents of all 699 children completed the Social Responsiveness Scale-Preschool version and the Developmental Concerns Questionnaire to determine age 3 developmental outcomes. In addition, children deemed at risk for autism spectrum disorder based on liberal cut points on the First Year Inventory, Social Responsiveness Scale-Preschool, and/or Developmental Concerns Questionnaire were invited for in-person diagnostic evaluations. We found 9 children who had a confirmed diagnosis of autism spectrum disorder from the sample of 699. Receiver operating characteristic analyses determined that a two-domain cutoff score yielded optimal classification of children: 31% of those meeting algorithm cutoffs had autism spectrum disorder and 85% had a developmental disability or concern by age 3. These results suggest that the First Year Inventory is a promising tool for identifying 12-month-old infants who are at risk for an eventual diagnosis of autism spectrum disorder.

Prenatal exposure to a common organophosphate insecticide delays motor development in a mouse model of idiopathic autism.

PubMed

De Felice, Alessia; Scattoni, Maria Luisa; Ricceri, Laura; Calamandrei, Gemma

2015-01-01

Autism spectrum disorders are characterized by impaired social and communicative skills and repetitive behaviors. Emerging evidence supported the hypothesis that these neurodevelopmental disorders may result from a combination of genetic susceptibility and exposure to environmental toxins in early developmental phases. This study assessed the effects of prenatal exposure to chlorpyrifos (CPF), a widely diffused organophosphate insecticide endowed with developmental neurotoxicity at sub-toxic doses, in the BTBR T+tf/J mouse strain, a validated model of idiopathic autism that displays several behavioral traits relevant to the autism spectrum. To this aim, pregnant BTBR mice were administered from gestational day 14 to 17 with either vehicle or CPF at a dose of 6 mg/kg/bw by oral gavages. Offspring of both sexes underwent assessment of early developmental milestones, including somatic growth, motor behavior and ultrasound vocalization. To evaluate the potential long-term effects of CPF, two different social behavior patterns typically altered in the BTBR strain (free social interaction with a same-sex companion in females, or interaction with a sexually receptive female in males) were also examined in the two sexes at adulthood. Our findings indicate significant effects of CPF on somatic growth and neonatal motor patterns. CPF treated pups showed reduced weight gain, delayed motor maturation (i.e., persistency of immature patterns such as pivoting at the expenses of coordinated locomotion) and a trend to enhanced ultrasound vocalization. At adulthood, CPF associated alterations were found in males only: the altered pattern of investigation of a sexual partner, previously described in BTBR mice, was enhanced in CPF males, and associated to increased ultrasonic vocalization rate. These findings strengthen the need of future studies to evaluate the role of environmental chemicals in the etiology of neurodevelopment disorders.

Service system and cognitive outcomes for young children with autism spectrum disorders in a rural area of Taiwan.

PubMed

Chu, Ching-Lin; Chiang, Chung-Hsin; Wu, Chin-Chin; Hou, Yuh-Ming; Liu, Jiun-Horng

2017-07-01

Chiayi is a rural county located in southwestern Taiwan, and the effectiveness of its early intervention service system for autism spectrum disorders was studied in detail. A total of 71 children with autism spectrum disorders ( n = 35) and developmental delay ( n = 36) aged 2.5 years were referred from the only Early Intervention Reporting and Referral Center in Chiayi and followed up at 4 years. Results showed relatively low and varied services of early intervention for both groups during two time-point periods and a relative lack of specific early intervention programs for children with autism spectrum disorders. It was found, however, that cognitive abilities were increased for autism spectrum disorders and developmental delay groups. Additionally, the Early Learning Score at the initial evaluation could contribute to the high learner autism spectrum disorders subgroup. Parental socio-economic level was also determined to benefit the high learner developmental delay subgroup.

Eating disorders and the serotonin connection: state, trait and developmental effects

PubMed Central

Steiger, Howard

2004-01-01

Alterations in brain serotonin (5-hydroxytryptamine [5-HT]) function are thought to contribute to diverse aspects of eating disorders, including binge eating, perfectionism, impulsivity and mood-regulation problems. In addition, 5-HT anomalies in individuals with eating disorders are believed to have multiple determinants associated with secondary (state-related) effects of their nutritional status, hereditary effects (related to such trait variations as impulsivity or perfectionism) and, possibly, long-term neurobiologic sequelae of developmental stressors (such as childhood abuse). On the strength of the available neurobiologic and genetic data, this paper presents the idea that 5-HT variations in those with eating disorders represent (1) a structured coaggregation of biologic, psychologic and social influences and (2) converging state, trait and developmental effects. Data are taken to support a multidimensional model of 5-HT function in eating disorders that, it is argued, can serve as a prototype for etiologic modelling, diagnostic classification and clinical decision-making bearing not only upon eating disorders but also upon other psychiatric disturbances. PMID:14719047

A stochastic multicellular model identifies biological watermarks from disorders in self-organized patterns of phyllotaxis

PubMed Central

Refahi, Yassin; Brunoud, Géraldine; Farcot, Etienne; Jean-Marie, Alain; Pulkkinen, Minna; Vernoux, Teva; Godin, Christophe

2016-01-01

Exploration of developmental mechanisms classically relies on analysis of pattern regularities. Whether disorders induced by biological noise may carry information on building principles of developmental systems is an important debated question. Here, we addressed theoretically this question using phyllotaxis, the geometric arrangement of plant aerial organs, as a model system. Phyllotaxis arises from reiterative organogenesis driven by lateral inhibitions at the shoot apex. Motivated by recurrent observations of disorders in phyllotaxis patterns, we revisited in depth the classical deterministic view of phyllotaxis. We developed a stochastic model of primordia initiation at the shoot apex, integrating locality and stochasticity in the patterning system. This stochastic model recapitulates phyllotactic patterns, both regular and irregular, and makes quantitative predictions on the nature of disorders arising from noise. We further show that disorders in phyllotaxis instruct us on the parameters governing phyllotaxis dynamics, thus that disorders can reveal biological watermarks of developmental systems. DOI: http://dx.doi.org/10.7554/eLife.14093.001 PMID:27380805

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

PubMed Central

Ansari, Morad; Balasubramanian, Meena; Blyth, Moira; Brady, Angela F.; Clayton, Stephen; Cole, Trevor; Deshpande, Charu; Fitzgerald, Tomas W.; Foulds, Nicola; Francis, Richard; Gabriel, George; Gerety, Sebastian S.; Goodship, Judith; Hobson, Emma; Jones, Wendy D.; Joss, Shelagh; King, Daniel; Klena, Nikolai; Kumar, Ajith; Lees, Melissa; Lelliott, Chris; Lord, Jenny; McMullan, Dominic; O'Regan, Mary; Osio, Deborah; Piombo, Virginia; Prigmore, Elena; Rajan, Diana; Rosser, Elisabeth; Sifrim, Alejandro; Smith, Audrey; Swaminathan, Ganesh J.; Turnpenny, Peter; Whitworth, James; Wright, Caroline F.; Firth, Helen V.; Barrett, Jeffrey C.; Lo, Cecilia W.; FitzPatrick, David R.; Hurles, Matthew E.

2018-01-01

Discovery of most autosomal recessive disease genes has involved analysis of large, often consanguineous, multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of novel dominant causes of rare, genetically heterogenous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios 1,2. Here we analysed 4,125 families with diverse, rare, genetically heterogeneous developmental disorders and identified four novel autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (identifying probands with rare biallelic putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population, and (ii) the phenotypic similarity of patients with the same recessive candidate gene. This new paradigm promises to catalyse discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations, and those caused predominantly by compound heterozygous genotypes. PMID:26437029

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

PubMed

Akawi, Nadia; McRae, Jeremy; Ansari, Morad; Balasubramanian, Meena; Blyth, Moira; Brady, Angela F; Clayton, Stephen; Cole, Trevor; Deshpande, Charu; Fitzgerald, Tomas W; Foulds, Nicola; Francis, Richard; Gabriel, George; Gerety, Sebastian S; Goodship, Judith; Hobson, Emma; Jones, Wendy D; Joss, Shelagh; King, Daniel; Klena, Nikolai; Kumar, Ajith; Lees, Melissa; Lelliott, Chris; Lord, Jenny; McMullan, Dominic; O'Regan, Mary; Osio, Deborah; Piombo, Virginia; Prigmore, Elena; Rajan, Diana; Rosser, Elisabeth; Sifrim, Alejandro; Smith, Audrey; Swaminathan, Ganesh J; Turnpenny, Peter; Whitworth, James; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Lo, Cecilia W; FitzPatrick, David R; Hurles, Matthew E

2015-11-01

Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population and (ii) the phenotypic similarity of patients with recessive variants in the same candidate gene. This new paradigm promises to catalyze the discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations and those caused predominantly by compound heterozygous genotypes.

Access to services, quality of care, and family impact for children with autism, other developmental disabilities, and other mental health conditions.

PubMed

Vohra, Rini; Madhavan, Suresh; Sambamoorthi, Usha; St Peter, Claire

2014-10-01

This cross-sectional study examined perceived access to services, quality of care, and family impact reported by caregivers of children aged 3-17 years with autism spectrum disorders, as compared to caregivers of children with other developmental disabilities and other mental health conditions. The 2009-2010 National Survey of Children with Special Health Care Needs was utilized to examine the association between child's special needs condition and three outcomes (N = 18,136): access to services (difficulty using services, difficulty getting referrals, lack of source of care, and inadequate insurance coverage), quality of care (lack of care coordination, lack of shared decision making, and no routine screening), and family impact (financial, employment, and time-related burden). Multivariate logistic regressions were performed to compare caregivers of children with autism spectrum disorders to caregivers of children with developmental disabilities (cerebral palsy, Down syndrome, developmental delay, or intellectual disability), mental health conditions (attention deficit hyperactivity disorder, anxiety, behavioral/conduct problems, or depression), or both developmental disabilities and mental health conditions. Caregivers of children with autism spectrum disorders were significantly more likely to report difficulty using services, lack of source of care, inadequate insurance coverage, lack of shared decision making and care coordination, and adverse family impact as compared to caregivers of children with developmental disabilities, mental health conditions, or both. © The Author(s) 2013.

Mutational Analysis of Cell Types in Tuberous Sclerosis Complex (TSC)

DTIC Science & Technology

2007-01-01

disorder resulting from mutations in the TSC1 or TSC2 genes that is associated with epilepsy, cognitive disability, and autism . TSC1/TSC2 gene mutations...cognitive disability, and autism . TSC1/TSC2 gene mutations lead to developmental alterations in brain structure known as tubers in over 80% of TSC...TSC (Sparagana and Roach, 2000). Comorbid neuropsychological disorders such as autism , mental retardation (MR), pervasive developmental disorder

The Usefulness of the Revised Psychoeducational Profile for the Assessment of Preschool Children with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Portoghese, Claudia; Buttiglione, Maura; Pavone, Francesca; Lozito, Vito; De Giacomo, Andrea; Martinelli, Domenico; Margari, Lucia

2009-01-01

Data from the Psychoeducational Profile-Revised (PEP-R) were analysed in a sample of 46 children, aged from 1.7 to 5.11 years, of whom 21 had autistic disorder (AD) and 25 had pervasive developmental disorder not otherwise specified (PDD-NOS). Analysis with a t-test for independent samples revealed a significant difference (p less than 0.05)…

Smooth pursuit eye movement (SPEM) in patients with multiple complex developmental disorder (MCDD), a subtype of the pervasive developmental disorder.

PubMed

Lahuis, Bertine E; Van Engeland, Herman; Cahn, Wiepke; Caspers, Esther; Van der Geest, Jos N; Van der Gaag, Rutger Jan; Kemner, Chantal

2009-01-01

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 addressed whether patients with MCDD show the same psychophysiological abnormalities as seen in patients with schizophrenia. Smooth pursuit eye movement (pursuit gain and saccadic parameters) was measured in children with either MCDD (n=18) or autism (n=18), and in age- and IQ-matched controls (n=36), as well as in a group of adult patients with schizophrenia (n=14) and a group of adult controls (n=17). We found the expected effect of lower velocity gain and increased number of saccades in schizophrenic patients. Children with MCDD also showed a lower velocity gain compared to controls children. In contrast, velocity gain was similar in autistic subjects and controls. No differences for velocity gain were found in a direct comparison between MCDD and autism. Saccadic parameters were not significantly different from controls in either MCDD or autistic subjects. Children with MCDD, like schizophrenic adults, show a reduced velocity gain, which could indicate that schizophrenia spectrum disorders and MCDD share (at least to some degree) a common neurobiological background.

A developmental and clinical perspective of rhythmic interpersonal coordination: From mimicry toward the interconnection of minds.

PubMed

Xavier, Jean; Magnat, Julien; Sherman, Alain; Gauthier, Soizic; Cohen, David; Chaby, Laurence

2016-11-01

Imitation plays a critical role in the development of intersubjectivity and serves as a prerequisite for understanding the emotions and intentions of others. In our review, we consider spontaneous motor imitation between children and their peers as a developmental process involving repetition and perspective-taking as well as flexibility and reciprocity. During childhood, this playful dynamic challenges developing visuospatial abilities and requires temporal coordination between partners. As such, we address synchrony as form of communication and social signal per se, that leads, from an experience of similarity, to the interconnection of minds. In this way, we argue that, from a developmental perspective, rhythmic interpersonal coordination through childhood imitative interactions serves as a precursor to higher- level social and cognitive abilities, such as theory of mind (TOM) and empathy. Finally, to clinically illustrate our idea, we focus on developmental coordination disorder (DCD), a condition characterized not only by learning difficulties, but also childhood deficits in motor imitation. We address the challenges faced by these children on an emotional and socio-interactional level through the perspective of their impairments in intra- and interpersonal synchrony. Copyright © 2017 Elsevier Ltd. All rights reserved.

[Circadian rhythm disruption and human development].

PubMed

Kohyama, Jun

2013-12-01

Ontogenetic developments of rest-activity, sleep-wakefulness, temperature and several hormone rhythms in humans were reviewed. The reported effects of environment on these alterations were also summarized. Then, disorders or conditions which often encounter during early stage of life and reveal circadian rhythm disruptions were described. These disorders or conditions included severe brain damage, visual disturbance, developmental disorders(autistic spectrum disorder and attention deficit/hyperactivity disorder), Rett syndrome, Angelman syndrome, Smith-Magenis syndrome, epilepsy, Yonaki, and inadequate sleep hygiene. Finally, it was emphasized that we should pay special attention on the development of youngsters who showed sleep disturbance during early stage of life with special reference to the later occurrence of developmental disorders.

Autism spectrum disorder - Asperger syndrome

MedlinePlus

... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...

Health-related quality of life, developmental milestones, and self-esteem in young adults with bleeding disorders.

PubMed

Limperg, P F; Haverman, L; Maurice-Stam, H; Coppens, M; Valk, C; Kruip, M J H A; Eikenboom, J; Peters, M; Grootenhuis, M A

2018-01-01

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.

The Ecological and Developmental Role of Recovery High Schools

ERIC Educational Resources Information Center

Finch, Andrew J.; Frieden, Gina

2014-01-01

Recovery high schools are secondary schools designed specifically for students recovering from substance use or co-occurring disorders. Studies have affirmed the chronic nature of substance use disorders and the developmental value of social supports for adolescents. As part of understanding human growth and development, training programs for…

Underlying Manifestations of Developmental Phonological Disorders in French-Speaking Pre-Schoolers

ERIC Educational Resources Information Center

Brosseau-Lapré, Françoise; Rvachew, Susan

2017-01-01

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…

Preparing Tomorrow's Doctors to Care for Patients with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Havercamp, Susan M.; Ratliff-Schaub, Karen; Macho, Patricia Navas; Johnson, Cherelle N.; Bush, Kelsey L.; Souders, Heather T.

2016-01-01

People with autism spectrum disorder (ASD) and other developmental disabilities have poorer health and face unique barriers to health care compared to people without disabilities. These health disparities can be partially attributed to physicians' limited knowledge about caring for patients with developmental disabilities. The purpose of this…

Developmental Coordination Disorder and Reported Enjoyment of Physical Education in Children

ERIC Educational Resources Information Center

Cairney, John; Hay, John; Mandigo, James; Wade, Terrance; Faught, Brent E.; Flouris, Andreas

2007-01-01

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…

Current Approaches to Intervention in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Sugden, David

2007-01-01

This review analyzes approaches to intervention in children with developmental coordination disorder within the framework of how children develop and learn motor skills, drawing upon maturational, cognitive, and dynamic systems models. The approaches to intervention are divided into two categories: (1) process or deficit-oriented approaches; and…

Gender and Agreement Processing in Children with Developmental Language Disorder

ERIC Educational Resources Information Center

Rakhlin, Natalia; Kornilov, Sergey A.; Grigorenko, Elena L.

2014-01-01

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…

Sex Differences in Toddlers with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Carter, Alice S.; Black, David O.; Tewani, Sonia; Connolly, Christine E.; Kadlec, Mary Beth; Tager-Flusberg, Helen

2007-01-01

Although autism spectrum disorders (ASD) prevalence is higher in males than females, few studies address sex differences in developmental functioning or clinical manifestations. Participants in this study of sex differences in developmental profiles and clinical symptoms were 22 girls and 68 boys with ASD (mean age = 28 months). All children…

Cross-Informant Agreement on Child and Adolescent Withdrawn Behavior: A Latent Class Approach

ERIC Educational Resources Information Center

Rubin, David H.; Althoff, Robert R.; Walkup, John T.; Hudziak, James J.

2013-01-01

Withdrawn behavior (WB) relates to many developmental outcomes, including pervasive developmental disorders, anxiety, depression, psychosis, personality disorders and suicide. No study has compared the latent profiles of different informants' reports on WB. This study uses multi-informant latent class analyses (LCA) of the child behavior checklist…

Self-Concept of Boys with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Cocks, Neralie; Barton, Belinda; Donelly, Michelle

2009-01-01

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…

Goal-Orientated Group Intervention for Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Dunford, Carolyn

2011-01-01

This study measures the effectiveness of a goal-orientated group intervention using concentrated practice schedules for children with developmental coordination disorder (DCD). The study design is repeated measures. The sample comprises eight children with DCD, aged 7-11 years. Outcome measures are the Movement Assessment Battery for Children…

A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

ERIC Educational Resources Information Center

Barkovich, A. James; Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

2012-01-01

Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics…

Feeding Disorders in Children with Developmental Disabilities.

ERIC Educational Resources Information Center

Schwarz, Steven M.

2003-01-01

This article describes an approach to evaluating and managing feeding disorders in children with developmental disabilities and examines effects of these management strategies on growth and clinical outcomes. A structured approach is stressed and a diagnostic and treatment algorithm is presented. Use with 79 children found that diagnostic-specific…

Roadside Judgments in Children with Developmental Co-ordination Disorder

ERIC Educational Resources Information Center

Purcell, Catherine; Wann, John P.; Wilmut, Kate; Poulter, Damian

2011-01-01

As pedestrians, the perceptual ability to accurately judge the relative rate of approaching vehicles and select a suitable crossing gap requires sensitivity to looming. It also requires that crossing judgments are synchronized with motoric capabilities. Previous research has suggested that children with Developmental Co-ordination Disorder (DCD)…

Specific Language Impairment as a Language Learning Disability

ERIC Educational Resources Information Center

Bishop, Dorothy V. M.

2009-01-01

Compared with autistic disorder and developmental dyslexia, specific language impairment (SLI) attracts considerably less media coverage and research funding. Whereas most members of the public have some idea of the characteristics of autistic disorder and developmental dyslexia, this is not so for SLI. It is intriguing to consider why this might…

Learning through Seeing and Doing: Visual Supports for Children with Autism

ERIC Educational Resources Information Center

Rao, Shaila M.; Gagie, Brenda

2006-01-01

Autism is a life-long, complex developmental disorder that causes impairment in the way individuals process information. Autism belongs to heterogeneous categories of developmental disabilities where neurological disorders lead to deficits in a child's ability to communicate, understand language, play, develop social skills, and relate to others.…

Post-Traumatic Stress Disorder in Young People with Intellectual Disability

ERIC Educational Resources Information Center

Turk, J.; Robbins, I.; Woodhead, M.

2005-01-01

Background: Post-traumatic stress disorder (PTSD) is common and treatable. There is extensive research on people of average intelligence yet little on individuals with developmental disabilities. Methods: We report two people with intellectual disability (ID) who experienced PTSD. The relevance of their developmental difficulties, social and…

Epileptic Encephalopathies and Their Relationship to Developmental Disorders: Do Spikes Cause Autism?

ERIC Educational Resources Information Center

Tharp, Barry R.

2004-01-01

Epileptic encephalopathies are progressive clinical and electroencephalographic syndromes where deterioration is thought to be caused by frequent seizures and abundant EEG epileptiform activity. Seizures occur in approximately 10-15% of children with pervasive developmental disorders (PDD) and 8-10% have epileptiform EEG abnormalities without…

ERPs and Eye Movements Reflect Atypical Visual Perception in Pervasive Developmental Disorder

ERIC Educational Resources Information Center

Kemner, Chantal; van Engeland, Herman

2006-01-01

Many studies of eye tracking or event-related brain potentials (ERPs) in subjects with Pervasive Developmental Disorder (PDD) have yielded inconsistent results on attentional processing. However, recent studies have indicated that there are specific abnormalities in early processing that are probably related to perception. ERP amplitudes in…

Sensory Organization of Balance Control in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Fong, Shirley S. M.; Lee, Velma Y. L.; Pang, Marco Y. C.

2011-01-01

This study aimed to (1) compare functional balance performance and sensory organization of postural control between children with and without developmental coordination disorder (DCD) and (2) determine the association between postural control and participation diversity among children with DCD. We recruited 81 children with DCD and 67 typically…

Everyday Memory in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Chen, I-Chen; Tsai, Pei-Luen; Hsu, Yung-Wen; Ma, Hui-Ing; Lai, Hsuan-An

2013-01-01

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…

Pragmatic Impairments in Adults with Childhood Diagnoses of Autism or Developmental Receptive Language Disorder.

ERIC Educational Resources Information Center

Eales, Martin J.

1993-01-01

Analysis of conversations of 15 adults with autism and 17 with developmental receptive language disorders in childhood indicated that the autistic adults showed greater pragmatic impairment because of their greater difficulty in forming context-relevant communicative intentions. Pragmatic impairments arising from failures in translating intentions…

Distributional Learning in College Students with Developmental Language Disorder

ERIC Educational Resources Information Center

Hall, Jessica; Van Horne, Amanda Owen; McGregor, Karla K.; Farmer, Thomas

2017-01-01

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…

Crisis on Campus: Eating Disorder Intervention from a Developmental-Ecological Perspective

ERIC Educational Resources Information Center

Taylor, Julia V.; Gibson, Donna M.

2016-01-01

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…

Audiovisual Speech Integration in Pervasive Developmental Disorder: Evidence from Event-Related Potentials

ERIC Educational Resources Information Center

Magnee, Maurice J. C. M.; de Gelder, Beatrice; van Engeland, Herman; Kemner, Chantal

2008-01-01

Background: Integration of information from multiple sensory sources is an important prerequisite for successful social behavior, especially during face-to-face conversation. It has been suggested that communicative impairments among individuals with pervasive developmental disorders (PDD) might be caused by an inability to integrate synchronously…

Motility problems in the intellectually challenged child, adolescent, and young adult.

PubMed

Martinelli, Massimo; Staiano, Annamaria

2011-12-01

Gastrointestinal (GI) motility problems represent an important cause of morbidity and sometimes mortality in patients affected by developmental disorders. This article describes motility disorders in Down syndrome, cerebral palsy, familial dysautonomia, and Williams syndrome. These problems do not often receive appropriate attention, either because priority is given to other medical aspects of the disorder, or because of the inability of affected children to communicate their symptoms. A better approach to the diagnosis and treatment of GI disorders is required to improve quality of life and minimize morbidity and mortality among patients with developmental disorders.

[From brain imaging to good teaching? implicating from neuroscience for research on learning and instruction].

PubMed

Stubenrauch, Christa; Krinzinger, Helga; Konrad, Kerstin

2014-07-01

Psychiatric disorders in childhood and adolescence, in particular attention deficit disorder or specific learning disorders like developmental dyslexia and developmental dyscalculia, affect academic performance and learning at school. Recent advances in neuroscientific research have incited an intensive debate both in the general public and in the field of educational and instructional science as well as to whether and to what extent these new findings in the field of neuroscience might be of importance for school-related learning and instruction. In this review, we first summarize neuroscientific findings related to the development of attention, working memory and executive functions in typically developing children and then evaluate their relevance for school-related learning. We present an overview of neuroimaging studies of specific learning disabilities such as developmental dyslexia and developmental dyscalculia, and critically discuss their practical implications for educational and teaching practice, teacher training, early diagnosis as well as prevention and disorder-specific therapy. We conclude that the new interdisciplinary field of neuroeducation cannot be expected to provide direct innovative educational applications (e.g., teaching methods). Rather, the future potential of neuroscience lies in creating a deeper understanding of the underlying cognitive mechanisms and pathomechanisms of learning processes and learning disorders.

Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder

PubMed Central

DiGuiseppi, Carolyn G.; Daniels, Julie L.; Fallin, Daniele M.; Rosenberg, Steven A.; Schieve, Laura A.; Thomas, Kathleen C.; Windham, Gayle C.; Goss, Cynthia W.; Soke, Gnakub N.; Currie, Dustin W.; Singer, Alison B.; Lee, Li-Ching; Bernal, Pilar; Croen, Lisa A.; Miller, Lisa A.; Pinto-Martin, Jennifer A.; Young, Lisa M.; Schendel, Diana E.

2016-01-01

Background The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. Objective This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. Methods This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2–5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child's primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. Results Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. Conclusions SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes. PMID:26917104

Demographic profile of families and children in the Study to Explore Early Development (SEED): Case-control study of autism spectrum disorder.

PubMed

DiGuiseppi, Carolyn G; Daniels, Julie L; Fallin, Daniele M; Rosenberg, Steven A; Schieve, Laura A; Thomas, Kathleen C; Windham, Gayle C; Goss, Cynthia W; Soke, Gnakub N; Currie, Dustin W; Singer, Alison B; Lee, Li-Ching; Bernal, Pilar; Croen, Lisa A; Miller, Lisa A; Pinto-Martin, Jennifer A; Young, Lisa M; Schendel, Diana E

2016-07-01

The Study to Explore Early Development (SEED) is designed to enhance knowledge of autism spectrum disorder characteristics and etiologies. This paper describes the demographic profile of enrolled families and examines sociodemographic differences between children with autism spectrum disorder and children with other developmental problems or who are typically developing. This multi-site case-control study used health, education, and birth certificate records to identify and enroll children aged 2-5 years into one of three groups: 1) cases (children with autism spectrum disorder), 2) developmental delay or disorder controls, or 3) general population controls. Study group classification was based on sampling source, prior diagnoses, and study screening tests and developmental evaluations. The child's primary caregiver provided demographic characteristics through a telephone (or occasionally face-to-face) interview. Groups were compared using ANOVA, chi-squared test, or multinomial logistic regression as appropriate. Of 2768 study children, sizeable proportions were born to mothers of non-White race (31.7%), Hispanic ethnicity (11.4%), and foreign birth (17.6%); 33.0% of households had incomes below the US median. The autism spectrum disorder and population control groups differed significantly on nearly all sociodemographic parameters. In contrast, the autism spectrum disorder and developmental delay or disorder groups had generally similar sociodemographic characteristics. SEED enrolled a sociodemographically diverse sample, which will allow further, in-depth exploration of sociodemographic differences between study groups and provide novel opportunities to explore sociodemographic influences on etiologic risk factor associations with autism spectrum disorder and phenotypic subtypes. Copyright © 2016 Elsevier Inc. All rights reserved.

Dysmotility in Esophageal Atresia: Pathophysiology, Characterization, and Treatment

PubMed Central

Faure, Christophe; Righini Grunder, Franziska

2017-01-01

Esophageal dysmotility is almost universal after esophageal atresia (EA) repair and is mainly related to the developmental anomaly of the esophagus. Esophageal dysmotility is involved in the pathophysiology of numerous symptoms and comorbidities associated with EA such as gastroesophageal reflux disease, aspiration and respiratory complications, and symptoms of dysphagia and feeding disorders. High-resolution esophageal manometry (HREM) has facilitated the characterization of the dysmotility, but there is an incomplete correlation between symptoms and manometrical patterns. Impedance coupled to HREM should help to predict the clinical outcome and therefore personalize patient management. Nowadays, the management of esophageal dysmotility in patients with EA is essentially based on treatment of associated inflammation related to peptic or eosinophilic esophagitis. PMID:28620599

The Stability of Comorbid Psychiatric Disorders: A 7 Year Follow Up of Children with Pervasive Developmental Disorder--Not Otherwise Specified

ERIC Educational Resources Information Center

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.

2015-01-01

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…

Spelling performance of students with developmental dyslexia and with developmental dyslexia associated to attention deficit disorder and hyperactivity.

PubMed

Alves, Débora Cristina; Casella, Erasmo Barbante; Ferraro, Alexandre Arcanjo

2016-04-01

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.

Exposure-Focused Family-Based CBT for Youth With ASD and Comorbid Anxiety

ClinicalTrials.gov

2017-10-25

Autism; Asperger's Syndrome; Pervasive Developmental Disorder Not Otherwise Specified; Generalized Anxiety Disorder; Social Phobia; Separation Anxiety Disorder; Obsessive-compulsive Disorder; Specific Phobia

Mathematical problems in children with developmental coordination disorder.

PubMed

Pieters, Stefanie; Desoete, Annemie; Van Waelvelde, Hilde; Vanderswalmen, Ruth; Roeyers, Herbert

2012-01-01

Developmental coordination disorder (DCD) is a heterogeneous disorder, which is often co-morbid with learning disabilities. However, mathematical problems have rarely been studied in DCD. The aim of this study was to investigate the mathematical problems in children with various degrees of motor problems. Specifically, this study explored if the development of mathematical skills in children with DCD is delayed or deficient. Children with DCD performed significantly worse for number fact retrieval and procedural calculation in comparison with age-matched control children. Moreover, children with mild DCD differed significantly from children with severe DCD on both number fact retrieval and procedural calculation. In addition, we found a developmental delay of 1 year for number fact retrieval in children with mild DCD and a developmental delay of 2 years in children with severe DCD. No evidence for a mathematical deficit was found. Diagnostic implications are discussed. Copyright © 2012 Elsevier Ltd. All rights reserved.

The pathophysiology, medical management, and dental implications of autism.

PubMed

Friedlander, Arthur H; Yagiela, John A; Paterno, Victoria I; Mahler, Michael E

2003-09-01

Autism is a lifelong, severe, developmental disorder that appears initially in infancy and early childhood and impairs the acquisition of some of the most important skills in human life. The disease is characterized by impaired social interactions, verbal and nonverbal communication deficiencies, limited activities and interest, and repetitive behaviors. Often accompanying the disorder are behavioral disturbances, such as self-mutilation and aggression, psychiatric symptoms, and seizures, which necessitate the administration of multiple medications to help the affected individual participate effectively in the educational and rehabilitative process. Dentists caring for these people must be familiar with the manifestations of the disease and its associated features so that they can garner the maximum level of cooperation. They must also be familiar with the medications used to treat the associated features of the disorder because many of these pharmaceuticals cause untoward orofacial and systemic reactions and may precipitate adverse interactions with dental therapeutic agents.

The early development of infant siblings of children with autism spectrum disorder: Characteristics of sibling interactions

PubMed Central

Warreyn, Petra; Van der Paelt, Sara; Demurie, Ellen; Roeyers, Herbert

2018-01-01

Although sibling interactions play an important role in children’s early development, they are rarely studied in very young children with an older brother or sister with autism spectrum disorder (ASD). This study used a naturalistic, observational method to compare interactions between 18-month-old infants and their older sibling with ASD (n = 22) with a control group of 18-month-old infants and their typically developing (TD) older sibling (n = 29). In addition, role (a)symmetry and the influence of gender were evaluated. Sibling interactions in ASD-dyads were characterized by higher levels of negativity. Although somewhat less pronounced in ASD-dyads, role asymmetry was present in both groups, with the older child taking the dominant position. Finally, siblings pairs with an older sister were characterized by more positive behaviours. Since differences in sibling interactions may alter the developmental trajectories of both siblings, these early relationships should be taken into account in future ASD research and interventions. PMID:29543814

The early development of infant siblings of children with autism spectrum disorder: Characteristics of sibling interactions.

PubMed

Bontinck, Chloè; Warreyn, Petra; Van der Paelt, Sara; Demurie, Ellen; Roeyers, Herbert

2018-01-01

Although sibling interactions play an important role in children's early development, they are rarely studied in very young children with an older brother or sister with autism spectrum disorder (ASD). This study used a naturalistic, observational method to compare interactions between 18-month-old infants and their older sibling with ASD (n = 22) with a control group of 18-month-old infants and their typically developing (TD) older sibling (n = 29). In addition, role (a)symmetry and the influence of gender were evaluated. Sibling interactions in ASD-dyads were characterized by higher levels of negativity. Although somewhat less pronounced in ASD-dyads, role asymmetry was present in both groups, with the older child taking the dominant position. Finally, siblings pairs with an older sister were characterized by more positive behaviours. Since differences in sibling interactions may alter the developmental trajectories of both siblings, these early relationships should be taken into account in future ASD research and interventions.

A developmental and genetic classification for midbrain-hindbrain malformations

PubMed Central

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

Psychomotor development and psychopathology in childhood.

PubMed

de Raeymaecker, Dirk M J

2006-01-01

The sensorimotor developmental phase, leading to a gradual acquisition of skilled actions, is of crucial importance for the young child and its growing sense of competence. Three vital steps in motor development are mentioned: first, the smooth and spontaneous movements of the "graceful and elegant" baby, expression of his well-being and vitality, with their profound effect on the mother-infant relationship; second, the emergence of intentional and goal-oriented acts leading to Funktionslust and playful repetitions; and finally, the development of symbolic acts and increasing technical capacity to use playthings in imaginative play. The psychodynamic significance of the most important motor milestones for the child's ego development is set out. Motility is one of the most important avenues for exercising such functions as mastery, integration, reality testing (self-preservation), and control of impulses. One may consider this early childhood period of rapid motor development as the motor phase of ego and libido development. Hence, many forms of developmental psychopathology are attended with motor impairment or insufficient motor mastery and integration. From that clinical perspective pass in review: perinatal complications and motor disturbance, attention deficit/hyperactivity disorder, dissociated motor development, low birth weight children and their developmental difficulties, developmental coordination disorder, aspects of pervasive developmental disorder, and stereotypic movement disorder.

Genetics Home Reference: monoamine oxidase A deficiency

MedlinePlus

... may have features of other behavioral disorders, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). ... Health Topic: Attention Deficit Hyperactivity Disorder Health Topic: Autism Spectrum Disorder Health Topic: Developmental Disabilities Genetic and ...

Early Brain Damage and the Development of Motor Behavior in Children: Clues for Therapeutic Intervention?

PubMed Central

Hadders-Algra, Mijna

2001-01-01

The Neuronal Group Selection Theory (NGST) could offer new insights into the mechanisms directing motor disorders, such as cerebral palsy and developmental coordination disorder. According to NGST, normal motor development is characterized by two phases of variability. Variation is not at random but determined by criteria set by genetic information. Development starts with the phase of primary variability,during which variation in motor behavior is not geared to external conditions. At function-specific ages secondary variability starts, during which motor performance can be adapted to specific situations. In both forms, of variability, selection on the basis of afferent information plays a significant role. From the NGST point of view, children with pre- or perinatally acquired brain damage, such as children with cerebral palsy and part of the children with developmental coordination disorder, suffer from stereotyped motor behavior, produced by a limited repertoire or primary (sub)cortical neuronal networks. These children also have roblems in selecting the most efficient neuronal activity, due to deficits in the processing of sensory information. Therefore, NGST suggests that intervention in these children at early age should aim at an enlargement of the primary neuronal networks. With increasing age, the emphasis of intervention could shift to the provision of ample opportunities for active practice, which might form a compensation for the impaired selection. PMID:11530887

Is auditory perceptual timing a core deficit of developmental coordination disorder?

PubMed

Trainor, Laurel J; Chang, Andrew; Cairney, John; Li, Yao-Chuen

2018-05-09

Time is an essential dimension for perceiving and processing auditory events, and for planning and producing motor behaviors. Developmental coordination disorder (DCD) is a neurodevelopmental disorder affecting 5-6% of children that is characterized by deficits in motor skills. Studies show that children with DCD have motor timing and sensorimotor timing deficits. We suggest that auditory perceptual timing deficits may also be core characteristics of DCD. This idea is consistent with evidence from several domains, (1) motor-related brain regions are often involved in auditory timing process; (2) DCD has high comorbidity with dyslexia and attention deficit hyperactivity, which are known to be associated with auditory timing deficits; (3) a few studies report deficits in auditory-motor timing among children with DCD; and (4) our preliminary behavioral and neuroimaging results show that children with DCD at age 6 and 7 have deficits in auditory time discrimination compared to typically developing children. We propose directions for investigating auditory perceptual timing processing in DCD that use various behavioral and neuroimaging approaches. From a clinical perspective, research findings can potentially benefit our understanding of the etiology of DCD, identify early biomarkers of DCD, and can be used to develop evidence-based interventions for DCD involving auditory-motor training. © 2018 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of The New York Academy of Sciences.

Mental Development and Autistic Behavior in Children with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Suzuki, Mayo

2011-01-01

The aim of this study was to clarify the features of mental development and autistic behavior in children with pervasive developmental disorders (PDD) from the viewpoint of remedial therapy. The Tokyo Child Development Schedule (TCDS) and the Tokyo Autistic Behavior Scale (TABS), designed to be completed by children's caregivers, were used. A…

Working Memory, Reading, and Mathematical Skills in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Alloway, Tracy Packiam

2007-01-01

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…

Motor Assessment in Developmental Coordination Disorder: From Identification to Intervention

ERIC Educational Resources Information Center

Barnett, Anna L.

2008-01-01

A description of Developmental Coordination Disorder (DCD) is included in the "Diagnostic Manual of the American Psychiatric Association" fourth edition ("DSM-IV-TR"). The major feature of this condition is impairment in motor skill, which has a negative impact on the performance of everyday life tasks. The present review outlines major issues…

Automatic Processing of Emotional Faces in High-Functioning Pervasive Developmental Disorders: An Affective Priming Study

ERIC Educational Resources Information Center

Kamio, Yoko; Wolf, Julie; Fein, Deborah

2006-01-01

This study examined automatic processing of emotional faces in individuals with high-functioning Pervasive Developmental Disorders (HFPDD) using an affective priming paradigm. Sixteen participants (HFPDD and matched controls) were presented with happy faces, fearful faces or objects in both subliminal and supraliminal exposure conditions, followed…

Dissecting Online Control in Developmental Coordination Disorder: A Kinematic Analysis of Double-Step Reaching

ERIC Educational Resources Information Center

Hyde, Christian; Wilson, Peter H.

2011-01-01

In a recent study, children with movement clumsiness (or Developmental Coordination Disorder--DCD) were shown to have difficulties making rapid online corrections when reaching, demonstrated by slower and less accurate movements to double-step targets (Hyde & Wilson, 2011). These results suggest that children with DCD have difficulty using…

Specialized Inpatient Psychiatry Units for Children with Autism and Developmental Disorders: A United States Survey

ERIC Educational Resources Information Center

Siegel, Matthew; Doyle, Kathleen; Chemelski, Bruce; Payne, David; Ellsworth, Beth; Harmon, Jamie; Robbins, Douglas; Milligan, Briana; Lubetsky, Martin

2012-01-01

A cross sectional survey was performed to obtain the characteristics of specialized inpatient psychiatry units exclusively serving children with autism and other developmental disorders in the United States. Identified units were surveyed on basic demographic characteristics, clinical challenges and therapeutic modalities. Average length of stay…

Comparing Activity Patterns, Biological, and Family Factors in Children with and without Developmental Coordination Disorder

ERIC Educational Resources Information Center

Beutum, Monique Natalie; Cordier, Reinie; Bundy, Anita

2013-01-01

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…

Maternal Immune-Mediated Conditions, Autism Spectrum Disorders, and Developmental Delay

ERIC Educational Resources Information Center

Lyall, Kristen; Ashwood, Paul; Van de Water, Judy; Hertz-Picciotto, Irva

2014-01-01

The maternal immune system may play a role in offspring neurodevelopment. We examined whether maternal autoimmune disease, asthma, and allergy were associated with child autism spectrum disorder (ASD) and developmental delay without autism (DD) using 560 ASD cases, 391 typically developing controls, and 168 DD cases from the CHildhood Autism Risk…

Referral for Occupational Therapy after Diagnosis of Developmental Disorder by German Child Psychiatrists

ERIC Educational Resources Information Center

Konrad, Marcel; Drosselmeyer, Julia; Kostev, Karel

2016-01-01

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…

Processing Capacity in Children and Adolescents with Pervasive Developmental Disorders

ERIC Educational Resources Information Center

Hoeksma, Marco R.; Kemner, Chantal; Verbaten, Marinus N.; van Engeland, Herman

2004-01-01

This study sought to investigate whether the abnormally small P3 amplitudes observed in pervasive developmental disorder (PDD) are related to differences in processing capacity. PDD children and adolescents and their control groups participated in the study. Visual probe stimuli were presented during an auditory task with two levels of difficulty.…

Rett'S syndrome : a case report.

PubMed

Gupta, V

2001-01-01

Rett's syndrome is a rare condition affecting only the girl child. It presents as a pervasive developmental disorder with a remarkable behavioural phenotype. The cause for this remains unknown but genetic factors and brain dysfunction have been implicated. This case report emphasises the importance of being aware of rare yet significant disorders of interest to neuro-developmental psychiatrists.

The Developmental Trajectory of Borderline Personality Disorder and Peer Victimisation: Australian Family Carers' Perspectives

ERIC Educational Resources Information Center

Wlodarczyk, Julian; Lawn, Sharon

2017-01-01

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…

Promoting Social Skill Development in Children with Pervasive Developmental Disorders: A Feasibility and Efficacy Study

ERIC Educational Resources Information Center

Koenig, Kathleen; White, Susan Williams; Pachler, Maryellen; Lau, Monika; Lewis, Moira; Klin, Ami; Scahill, Lawrence

2010-01-01

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…

Parameterization of Movement Execution in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Van Waelvelde, Hilde; De Weerdt, Willy; De Cock, Paul; Janssens, Luc; Feys, Hilde; Engelsman, Bouwien C. M. Smits

2006-01-01

The Rhythmic Movement Test (RMT) evaluates temporal and amplitude parameterization and fluency of movement execution in a series of rhythmic arm movements under different sensory conditions. The RMT was used in combination with a jumping and a drawing task, to evaluate 36 children with Developmental Coordination Disorder (DCD) and a matched…

Left Ventricular Structure and Function in Children with and without Developmental Coordination Disorder

ERIC Educational Resources Information Center

Chirico, Daniele; O'Leary, Deborah; Cairney, John; Klentrou, Panagiota; Haluka, Karen; Hay, John; Faught, Brent

2011-01-01

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…

Neurological Soft Signs in Indian Children with Specific Developmental Disorders of Scholastic Skills

ERIC Educational Resources Information Center

Sadhu, Raja; Mehta, Manju; Kalra, Veena; Sagar, Rajesh; Mongia, Monica

2008-01-01

Aim: To compare the occurrence of neurological soft signs (NSS) in children with specific developmental disorders of scholastic skills (SDDSS) and normal children. Methods: 36 cases of SDDSS were compared with 30 control children regarding sociodemographic and clinical variables and neurological soft signs. Results: Children with SDDSS had…

A Test of Motor (Not Executive) Planning in Developmental Coordination Disorder and Autism

ERIC Educational Resources Information Center

van Swieten, Lisa M.; van Bergen, Elsje; Williams, Justin H. G.; Wilson, Andrew D.; Plumb, Mandy S.; Kent, Samuel W.; Mon-Williams, Mark A.

2010-01-01

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.…

Brief Report: Prevalence of Pervasive Developmental Disorder in Brazil--A Pilot Study

ERIC Educational Resources Information Center

Paula, Cristiane S.; Ribeiro, Sabrina H.; Fombonne, Eric; Mercadante, Marcos T.

2011-01-01

This pilot study presents preliminary results concerning the prevalence of Pervasive Developmental Disorder (PDD) in South America. It was a three-phase study conducted in a typical town in Southeast Brazil. Case definition was based in a combination of standardized instruments and clinical evaluations by experts. The prevalence of PDD was…

Developmental Disorders of Language and Literacy: Special Issue

ERIC Educational Resources Information Center

Marshall, Chloe R.; Messaoud-Galusi, Souhila

2010-01-01

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…

Early Indicators of Autism Spectrum Disorders at 12 and 24 Months of Age: A Prospective, Longitudinal Comparative Study

ERIC Educational Resources Information Center

Veness, Carly; Prior, Margot; Bavin, Edith; Eadie, Patricia; Cini, Eileen; Reilly, Sheena

2012-01-01

Prospective questionnaire data from a longitudinal population sample on children with autism spectrum disorders (ASD), developmental delay, specific language impairment, or typical development (TD), were collected at ages eight, 12 and 24 months, via the Communication and Symbolic Behavior Scale Developmental Profile (CSBS)--Infant Toddler…

Polyfluoroalkyl Chemicals and Learning and Developmental Disorders: Epidemiology and Exposure Assessment

ERIC Educational Resources Information Center

Hoffman, Jennifer Kate

2010-01-01

This dissertation has two areas of focus: learning and developmental disorders (LDDs) and polyfluoroalkyl chemicals (PFCs). Epidemiological and exposure assessment methods are applied to each. The first paper used geographic location as a surrogate for exposure and broadly assesses the effect of the environment, both physical and social, on LDD…

Teacher-Child Relationships and Classroom-Learning Behaviours of Children with Developmental Language Disorders

ERIC Educational Resources Information Center

Rhoad-Drogalis, Anna; Justice, Laura M.; Sawyer, Brook E.; O'Connell, Ann A.

2018-01-01

Background: Children with developmental language disorders (DLDs) often struggle with classroom behaviour. No study has examined whether positive teacher-child relationships may act as a protective factor for children with DLDs in that these serve to enhance children's important classroom-learning behaviours. Aims: To examine the association…

Education and Employment Outcomes of Young Adults with a History of Developmental Language Disorder

ERIC Educational Resources Information Center

Conti-Ramsden, Gina; Durkin, Kevin; Toseeb, Umar; Botting, Nicola; Pickles, Andrew

2018-01-01

Background: Developmental language disorder (DLD) presents a considerable barrier for young adults to engage in further education and training. Early studies with young adults with DLD revealed poor educational achievement and lack of opportunities to progress in education. More recent studies have provided more positive findings. Relatively…

Nonspeech Oral Motor Treatment Issues Related to Children with Developmental Speech Sound Disorders

ERIC Educational Resources Information Center

Ruscello, Dennis M.

2008-01-01

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…

Can Gymnastic Teacher Predict Leisure Activity Preference among Children with Developmental Coordination Disorders (DCD)?

ERIC Educational Resources Information Center

Engel-Yeger, Batya; Hanna-Kassis, Amany; Rosenblum, Sara

2012-01-01

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.…

Sleep Disturbances in Adults with Autism Spectrum Disorders and Severe Intellectual Impairments

ERIC Educational Resources Information Center

Matson, Johnny L.; Ancona, Martin N.; Wilkins, Jonathan

2008-01-01

Sleep disturbances are a significant problem for persons with developmental disabilities. These problems occur at a higher rate than what is observed in the typically developing population, and persons with Autism Spectrum Disorders (ASD) appear to be at a higher risk than individuals with other developmental disabilities. However, another major…

Sleep Correlates of Pervasive Developmental Disorders: A Review of the Literature

ERIC Educational Resources Information Center

Hollway, Jill A.; Aman, Michael G.

2011-01-01

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.…

Developmental Pathways to Conduct Disorder: Implications for Future Directions in Research, Assessment, and Treatment

ERIC Educational Resources Information Center

Frick, Paul J.

2012-01-01

Research has indicated that there are several common pathways through which children and adolescents develop conduct disorder, each with different risk factors and each with different underlying developmental mechanisms leading to the child's aggressive and antisocial behavior. The current article briefly summarizes research on these pathways,…

Caregiver Strain and Sensory Features in Children with Autism Spectrum Disorder and Other Developmental Disabilities

ERIC Educational Resources Information Center

Kirby, Anne V.; White, Tamira J.; Baranek, Grace T.

2015-01-01

Caring for children with disabilities contributes to increased levels of parent stress or caregiver strain. However, the potential relationship of sensory features to strain among caregivers of children with autism spectrum disorder (ASD) and other developmental disabilities (DD) is unknown. Sensory features include overreactions, underreactions,…

Activity Participation Intensity Is Associated with Skeletal Development in Pre-Pubertal Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Tsang, William W. N.; Guo, X.; Fong, Shirley S. M.; Mak, Kwok-Kei; Pang, Marco Y. C.

2012-01-01

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…

Prevalence of Pervasive Developmental Disorders in Two Canadian Provinces

ERIC Educational Resources Information Center

Ouellette-Kuntz, Helene; Coo, Helen; Yu, C. T.; Chudley, Albert E.; Noonan, Andrea; Breitenbach, Marlene; Ramji, Nasreen; Prosick, Talia; Bedard, Angela; Holden, Jeanette J. A.

2006-01-01

Although it is generally accepted that the proportion of children diagnosed with pervasive developmental disorders (PDDs) has increased in the past two decades, there is no consensus on the prevalence of these conditions. The accompanying large rise in demand for services, together with uncertainty regarding the extent to which the observed…

Episodic Memory Retrieval in Adolescents with and without Developmental Language Disorder (DLD)

ERIC Educational Resources Information Center

Lee, Joanna C.

2018-01-01

Background: Two reasons may explain the discrepant findings regarding declarative memory in developmental language disorder (DLD) in the literature. First, standardized tests are one of the primary tools used to assess declarative memory in previous studies. It is possible they are not sensitive enough to subtle memory impairment. Second, the…

Wisconsin Card Sorting Test Performance in Children with Developmental Coordination Disorder

ERIC Educational Resources Information Center

Wuang, Yee-Pay; Su, Chwen-Yng; Su, Jui-Hsing

2011-01-01

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.…

Injury Treatment among Children with Autism or Pervasive Developmental Disorder

ERIC Educational Resources Information Center

McDermott, Suzanne; Zhou, Li; Mann, Joshua

2008-01-01

This study examined the differences in the frequency and type of injury for children with autism and pervasive developmental disorder (PDD) compared with typically developing peers, when both groups are insured by Medicaid. The relative rate (RR) of emergency/hospital treatment of injury for children with autism or PDD compared to controls was…

Donepezil in the Treatment of ADHD-Like Symptoms in Youths with Pervasive Developmental Disorder: A Case Series

ERIC Educational Resources Information Center

Doyle, Robert L.; Frazier, Jean; Spencer, Thomas J.; Geller, Daniel; Biederman, Joseph; Wilens, Timothy

2006-01-01

Background: Recent studies reported ADHD-like symptoms and cognitive deficits in pervasive developmental disorder (PDD). Because work in dementia documents improvement in executive function deficits with the acetylcholinesterase inhibitor donepezil, the authors reason that similar benefits could be obtained in PDD. Method: The authors describe…

Targeting Social Skills Deficits in an Adolescent with Pervasive Developmental Disorder

ERIC Educational Resources Information Center

Hagopian, Louis P.; Kuhn, David E.; Strother, Geri E.

2009-01-01

Social skills deficits are a defining feature of individuals diagnosed with autism and other pervasive developmental disorders (PDD), which can impair functioning and put the individual at higher risk for developing problem behavior (e.g., self-injury, aggression). In the current study, an adolescent with PDD displayed inappropriate social…

Non-ASD outcomes at 36 months in siblings at familial risk for autism spectrum disorder (ASD): A baby siblings research consortium (BSRC) study.

PubMed

Charman, Tony; Young, Gregory S; Brian, Jessica; Carter, Alice; Carver, Leslie J; Chawarska, Katarzyna; Curtin, Suzanne; Dobkins, Karen; Elsabbagh, Mayada; Georgiades, Stelios; Hertz-Picciotto, Irva; Hutman, Ted; Iverson, Jana M; Jones, Emily J; Landa, Rebecca; Macari, Suzanne; Messinger, Daniel S; Nelson, Charles A; Ozonoff, Sally; Saulnier, Celine; Stone, Wendy L; Tager-Flusberg, Helen; Webb, Sara Jane; Yirmiya, Nurit; Zwaigenbaum, Lonnie

2017-01-01

We characterized developmental outcomes of a large sample of siblings at familial high-risk of autism spectrum disorder (ASD), who themselves did not have ASD (n = 859), and low-risk controls with no family history of ASD (n = 473). We report outcomes at age 3 years using the Mullen Scales of Early Learning, the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview-Revised (ADI-R) and adaptive functioning on the Vineland Adaptive Behavior Scales. Around 11% of high-risk siblings had mild-to-moderate levels of developmental delay, a rate higher than the low-risk controls. The groups did not differ in the proportion of toddlers with mild-to-moderate language delay. Thirty percent of high-risk siblings had elevated scores on the ADOS, double the rate seen in the low-risk controls. High-risk siblings also had higher parent reported levels of ASD symptoms on the ADI-R and lower adaptive functioning on the Vineland. Males were more likely to show higher levels of ASD symptoms and lower levels of developmental ability and adaptive behavior than females across most measures but not mild-to-moderate language delay. Lower maternal education was associated with lower developmental and adaptive behavior outcomes. These findings are evidence for early emerging characteristics related to the "broader autism phenotype" (BAP) previously described in older family members of individuals with ASD. There is a need for ongoing clinical monitoring of high-risk siblings who do not have an ASD by age 3 years, as well as continued follow-up into school age to determine their developmental and behavioral outcomes. Autism Res 2017, 10: 169-178. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

Developmental Origins of Perfectionism Among African American Youth

PubMed Central

Herman, Keith C.; Trotter, Reid; Reinke, Wendy M.; Ialongo, Nicholas

2013-01-01

The present study used a person-centered latent variable approach to classify types of perfectionism among 6th-grade African American children living in an urban setting. In particular, the authors were interested in determining whether an adaptive subtype could be found and validated against external criteria. The authors also attempted to identify any developmental precursors that could reliably differentiate the perfectionist subtypes. A social learning and competence framework was used to select potential 1st-grade risk and protective factors for future perfectionism profiles. Four classes best described the children’s perfectionism scores in 6th grade. Three of these classes resembled the profiles most commonly seen in prior perfectionism research (Non-Critical/Adaptive, Critical/Maladaptive, and Non-Perfectionist). The fourth class, Non-Striving, was characterized by extremely low levels of reported personal standards. Sixth-grade correlates confirmed the distinctiveness of these classes. In particular, the Critical/Maladaptive and Non-Striving classes had higher rates of internalizing symptoms and disorders. Additionally, several 1st-grade predictors suggested unique developmental origins of these classes. The Critical/Maladaptive class was characterized by lower academic skills and elevated teacher-rated attention problems, hyperactivity, shyness, and peer rejection. The Non-Striving class had higher rates of family alcohol problems and lower levels of parent praise. Implications regarding the universal and culture-specific origins and effects of perfectionism are discussed. PMID:21574697

Developmental programming of the metabolic syndrome - critical windows for intervention

PubMed Central

Vickers, Mark H

2011-01-01

Metabolic disease results from a complex interaction of many factors, including genetic, physiological, behavioral and environmental influences. The recent rate at which these diseases have increased suggests that environmental and behavioral influences, rather than genetic causes, are fuelling the present epidemic. In this context, 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 adult obesity and the metabolic syndrome. Although the mechanisms are yet to be fully elucidated, this programming was generally considered an irreversible change in developmental trajectory. Recent work in animal models suggests that developmental programming of metabolic disorders is potentially reversible by nutritional or targeted therapeutic interventions during the period of developmental plasticity. This review will discuss critical windows of developmental plasticity and possible avenues to ameliorate the development of postnatal metabolic disorders following an adverse early life environment. PMID:21954418

Intestinal cytokines in children with pervasive developmental disorders.

PubMed

DeFelice, Magee L; Ruchelli, Eduardo D; Markowitz, Jonathan E; Strogatz, Melissa; Reddy, Krishna P; Kadivar, Khadijeh; Mulberg, Andrew E; Brown, Kurt A

2003-08-01

A relationship between autism and gastrointestinal (GI) immune dysregulation has been postulated based on incidence of GI complaints as well as macroscopically observed lymphonodular hyperplasia and microscopically determined enterocolitis in pediatric patients with autism. To evaluate GI immunity, we quantitatively assessed levels of proinflammatory cytokines, interleukin (IL)-6, IL-8, and IL-1beta, produced by intestinal biopsies of children with pervasive developmental disorders. Fifteen patients, six with pervasive developmental disorders and nine age-matched controls, presenting for diagnostic colonoscopy were enrolled. Endoscopic biopsies were organ cultured, supernatants were harvested, and IL-6, IL-8, and IL-1beta levels were quantified by ELISA. Tissue histology was evaluated by blinded pathologists. Concentrations of IL-6 from intestinal organ culture supernatants of patients with pervasive developmental disorders (median 318.5 pg/ml, interquartile range 282.0-393.0 pg/ml) when compared with controls (median 436.9 pg/ml, interquartile range 312.6-602.5 pg/ml) were not significantly different (p = 0.0987). Concentrations of IL-8 (median 84,000 pg/ml, interquartile range 16,000-143,000 pg/ml) when compared with controls (median 177,000 pg/ml, interquartile range 114,000-244,000 pg/ml) were not significantly different (p = 0.0707). Concentrations of IL-1beta (median 0.0 pg/ml, interquartile range 0.0-94.7 pg/ml) when compared with controls (median 0.0 pg/ml, interquartile range 0.0-60.2 pg/ml) were not significantly different (p = 0.8826). Tissue histology was nonpathological for all patients. We have demonstrated no significant difference in production of IL-6, IL-8, and IL-1beta between patients with pervasive developmental disorders and age-matched controls. In general, intestinal levels of IL-6 and IL-8 were lower in patients with pervasive developmental disorders than in age-matched controls. These data fail to support an association between autism and GI inflammation.

Zebrafish as a systems toxicology model for developmental neurotoxicity testing.

PubMed

Nishimura, Yuhei; Murakami, Soichiro; Ashikawa, Yoshifumi; Sasagawa, Shota; Umemoto, Noriko; Shimada, Yasuhito; Tanaka, Toshio

2015-02-01

The developing brain is extremely sensitive to many chemicals. Exposure to neurotoxicants during development has been implicated in various neuropsychiatric and neurological disorders, including autism spectrum disorder, attention deficit hyperactive disorder, schizophrenia, Parkinson's disease, and Alzheimer's disease. Although rodents have been widely used for developmental neurotoxicity testing, experiments using large numbers of rodents are time-consuming, expensive, and raise ethical concerns. Using alternative non-mammalian animal models may relieve some of these pressures by allowing testing of large numbers of subjects while reducing expenses and minimizing the use of mammalian subjects. In this review, we discuss some of the advantages of using zebrafish in developmental neurotoxicity testing, focusing on central nervous system development, neurobehavior, toxicokinetics, and toxicodynamics in this species. We also describe some important examples of developmental neurotoxicity testing using zebrafish combined with gene expression profiling, neuroimaging, or neurobehavioral assessment. Zebrafish may be a systems toxicology model that has the potential to reveal the pathways of developmental neurotoxicity and to provide a sound basis for human risk assessments. © 2014 Japanese Teratology Society.

Redefining autism spectrum disorder using DSM-5: the implications of the proposed DSM-5 criteria for autism spectrum disorders.

PubMed

Young, Robyn L; Rodi, Melissa L

2014-04-01

A number of changes were made to pervasive developmental disorders (PDDs) in the recently released diagnostic and statistical manual of mental disorders (APA, Diagnostic and statistical manual of mental disorders, American Psychiatric Publishing, Arlington, VA, 2013). Of the 210 participants in the present study who met DSM-IV-TR criteria for a PDD [i.e., autistic disorder, Asperger's disorder and pervasive developmental disorder-not otherwise specified (PDD-NOS)], only 57.1% met DSM-5 criteria (specificity = 1.0) for autism spectrum disorder when criteria were applied concurrently during diagnostic assessment. High-functioning individuals (i.e., Asperger's disorder and PDD-NOS) were less likely to meet DSM-5 criteria than those with autistic disorder. A failure to satisfy all three criteria in the social-communication domain was the most common reason for exclusion (39%). The implications of these results are discussed.

[Specific developmental language disorder: a theoretical approach to its diagnosis, aetiology and clinical symptoms].

PubMed

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.

Neural dissociation of phonological and visual attention span disorders in developmental dyslexia: FMRI evidence from two case reports.

PubMed

Peyrin, C; Lallier, M; Démonet, J F; Pernet, C; Baciu, M; Le Bas, J F; Valdois, S

2012-03-01

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 FG exhibited the reverse pattern. During a phonological rhyme judgement task, LL showed decreased activation of the left inferior frontal gyrus whereas this region was activated at the level of the controls in FG. Conversely, during a visual categorization task, FG demonstrated decreased activation of the parietal lobules whereas these regions were activated in LL as in the controls. These contrasted patterns of brain activation thus mirror the cognitive disorders' dissociation. These findings provide the first evidence for an association between distinct brain mechanisms and distinct cognitive deficits in developmental dyslexia, emphasizing the importance of taking into account the heterogeneity of the reading disorder. Copyright © 2012 Elsevier Inc. All rights reserved.

Developmental cascades: Linking adolescent substance use, affiliation with substance use promoting peers, and academic achievement to adult substance use disorders

PubMed Central

Haller, Moira; Handley, Elizabeth; Chassin, Laurie; Bountress, Kaitlin

2010-01-01

Using a high-risk community sample (N = 405), the current study examined developmental cascades among substance use, affiliation with substance use promoting peers, and academic achievement over an 18-year period and tested whether these pathways mediated the influence of parental alcoholism on adult alcohol and drug use disorders. Results showed that the influence of parental alcoholism on adult drug disorders was mediated by developmental cascades across all three domains, whereas the influence of parental alcoholism on adult alcohol disorders was mediated through affiliation with substance use promoting peers and persistence in binge drinking. Adolescent drug use had more implications for adult outcomes than did adolescent alcohol use, which was less likely to spill over into other domains of functioning. Findings indicated that adolescent risk factors had indirect rather than unique effects on adult substance use disorders, suggesting that adolescent risk is not immutable and is largely mediated by later influences. PMID:20883589

Prader–Willi Syndrome: Genetics and Behavior

PubMed Central

Thompson, Travis; Butler, Merlin G.; MacLean, William E.; Joseph, Beth

2016-01-01

Since its inception, the John F. Kennedy Center has attempted to overcome developmental problems, which create restrictive barriers to the participation of individuals with specific disabilities in our broader society. Some of Nicholas Hobbs’s earliest efforts involved developing strategies for preventing children’s emotional and behavior problems, which interfered with their later full participation in society. Other investigators in the Kennedy Center explored ways of reducing dysfunctional repetitive movement problems and self-injury commonly associated with autism and severe mental retardation. We have become concerned about a group of people who have the potential to live largely independently (or semi-independently), to work at meaningful jobs in the community, and to make full use of the same recreational and leisure opportunities as other members of society but who are prevented from doing so because of a life-threatening behavior problem. Prader–Willi syndrome (PWS) is a genetic developmental disability characterized by a group of specific behavioral features of which an insatiable appetite is the most striking. PWS is the most commonly known genetic cause of obesity. The eating disorder associated with PWS can be so severe as to be life threatening, including eating to the point of stomach rupture and death. Though a cluster of commonly covarying clinical features are exhibited by people with this syndrome, only the eating disorder is common to all affected individuals. PWS shares behavioral features with other disorders and disabilities, such as obsessive compulsive disorder and autism, but only PWS includes the unique combination of characteristics that distinguish this syndrome. Because eating disorders such as bulimia and anorexia nervosa also share features with PWS, any light that could be shed on the causes and treatment of the eating disorder in PWS could potentially have far-reaching implications for other eating disorders as well. In this article, we review the behavioral, cognitive, and other psychological features of PWS and explore their relationships to known genetic mechanisms. PMID:27594721

A review of somatoform disorders in DSM-IV and somatic symptom disorders in proposed DSM-V.

PubMed

Ghanizadeh, Ahmad; Firoozabadi, Ali

2012-12-01

Psychiatric care providers should be trained to use current changes in the somatoform disorders criteria. New diagnostic criteria for Somatic Symptom disorders in the proposed DSM-V is discussed and compared with its older counterpart in DSM-IV. A new category called Somatic Syndrome Disorders is suggested. It includes new subcategories such as "Complex Somatic Symptom Disorder" (CSSD) and "Simple Somatic Symptom Disorder" (SSSD). Some of the subcategories of DSM-IV derived disorders are included in CSSD. While there are some changes in diagnostic criteria, there are concerns and limitations about the new classification needed to be more discussed before implementation. Functional somatic disturbance, the counterpart of converion disorder in DSM-IV, can be highly dependet on the developmental level of children. However, the role of developmental level needs to be considered.

Dysgraphia

MedlinePlus

Written expression disorder; Specific learning disorder with impairment in written expression ... can have dysgraphia only or along with other learning disabilities, such as: Developmental coordination disorder (includes poor handwriting) ...

Stigma, explanatory models and unmet needs of caregivers of children with developmental disorders in a low-income African country: a cross-sectional facility-based survey.

PubMed

Tilahun, Dejene; Hanlon, Charlotte; Fekadu, Abebaw; Tekola, Bethlehem; Baheretibeb, Yonas; Hoekstra, Rosa A

2016-04-27

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. Participants comprised caregivers (n = 102) of children with developmental disorders attending two child mental health clinics in Addis Ababa. The majority (66.7%; n = 68) had a diagnosis of intellectual disability (ID); 34 children (33.3%) had autism spectrum disorder (ASD) as their primary diagnosis. All caregivers were administered a structured questionnaire via a face-to-face interview, which included an adaptation of the Family Interview Schedule, closed questions about socio-demographic characteristics, explanatory models of illness, type of interventions used or desired and coping strategies, and an open ended question regarding the family's unmet needs. Most caregivers reported experience of stigma: 43.1% worried about being treated differently, 45.1% felt ashamed about their child's condition and 26.7% made an effort to keep their child's condition secret. Stigma did not depend on the type of developmental disorder, the child's age or gender, or on the age or level of education of the caregiver (all p > 0.05). Reported stigma was significantly higher in caregivers who had sought traditional help (p < 0.01), provided supernatural explanations for their child's condition (p = .02) and in caregivers of Orthodox Christian faith (p = .03). Caregivers gave a mixture of biomedical explanations (e.g. head injury (30.4%) or birth complications (25.5%)) and supernatural explanations (e.g. spirit possession (40.2%) or sinful act (27.5%)) for their child's condition. The biggest reported unmet need was educational provision for their child (74.5%), followed by treatment by a health professional (47.1%), financial support (30.4%) and expert help to support their child's development (27.5%). Most caregivers reported that talking to health professionals (86.3%) and family (85.3%) helped them to cope. Many caregivers also used support from friends (76.5%) and prayer (57.8%) as coping mechanisms. This study highlights the stigma experienced by families caring for a child with a developmental disorder. Designing interventions appropriate for low-income settings that improve awareness about developmental disorders, decrease stigma, improve access to appropriate education and strengthen caregivers' support are needed.

Neural changes associated to procedural learning and automatization process in Developmental Coordination Disorder and/or Developmental Dyslexia.

PubMed

Biotteau, Maëlle; Péran, Patrice; Vayssière, Nathalie; Tallet, Jessica; Albaret, Jean-Michel; Chaix, Yves

2017-03-01

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.

The Locus Preservation Hypothesis: Shared Linguistic Profiles across Developmental Disorders and the Resilient Part of the Human Language Faculty

PubMed Central

Leivada, Evelina; Kambanaros, Maria; Grohmann, Kleanthes K.

2017-01-01

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. PMID:29081756

Nonlinear Developmental trajectory of fear learning and memory

PubMed Central

King, Elizabeth C.; Pattwell, Siobhan S.; Sun, Alice; Glatt, Charles E.; Lee, Francis S.

2013-01-01

The transition into and out of adolescence represents a unique developmental period during which neuronal circuits are particularly susceptible to modification by experience. Adolescence is associated with an increased incidence of anxiety disorders in humans,1–3 and an estimated 75% of adults with fear-related disorders met diagnostic criteria as children and adolescents.4,5 Conserved neural circuitry between rodents and humans has facilitated neurodevelopmental studies of behavioral and molecular processes associated with fear learning and memory, which lie at the heart of many anxiety disorders. Here, we review the non-linear developmental aspects of fear learning and memory during a transition period into and out of adolescence and provide a discussion of the molecular mechanisms that may underlie these alterations in behavior. We provide a model that may help to inform novel treatment strategies for children and adolescents with fear-related disorders. PMID:24176014

Effectiveness of 1:1 Speech and Language Therapy for Older Children with (Developmental) Language Disorder

ERIC Educational Resources Information Center

Ebbels, Susan H.; Wright, Lisa; Brockbank, Sally; Godfrey, Caroline; Harris, Catherine; Leniston, Hannah; Neary, Kate; Nicoll, Hilary; Nicoll, Lucy; Scott, Jackie; Maric, Nataša

2017-01-01

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…

Neuromotor Task Training for Children with Developmental Coordination Disorder: A Controlled Trial

ERIC Educational Resources Information Center

Niemeijer, A. S.; Smits-Engelsman, B. C. M.; Schoemaker, M. M.

2007-01-01

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 selected if they scored below the 15th centile on…

Impaired Letter-String Processing in Developmental Dyslexia: What Visual-to-Phonology Code Mapping Disorder?

ERIC Educational Resources Information Center

Valdois, Sylviane; Lassus-Sangosse, Delphine; Lobier, Muriel

2012-01-01

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…

Motor Competence Levels and Prevalence of Developmental Coordination Disorder in Spanish Children: The MOVI-KIDS Study

ERIC Educational Resources Information Center

Amador-Ruiz, Santiago; Gutierrez, David; Martínez-Vizcaíno, Vicente; Gulías-González, Roberto; Pardo-Guijarro, María J.; Sánchez-López, Mairena

2018-01-01

Background: Motor competence (MC) affects numerous aspects of children's daily life. The aims of this study were to: evaluate MC, provide population-based percentile values for MC; and determine the prevalence of developmental coordination disorder (DCD) in Spanish schoolchildren. Methods: This cross-sectional study included 1562 children aged 4…

Intact Procedural Motor Sequence Learning in Developmental Coordination Disorder

ERIC Educational Resources Information Center

Lejeune, Caroline; Catale, Corinne; Willems, Sylvie; Meulemans, Thierry

2013-01-01

The purpose of the present study was to explore the possibility of a procedural learning deficit among children with developmental coordination disorder (DCD). We tested 34 children aged 6-12 years with and without DCD using the serial reaction time task, in which the standard keyboard was replaced by a touch screen in order to minimize the impact…

Verbal Self-Guidance as a Treatment Approach for Children with Developmental Coordination Disorder: A Systematic Replication Study.

ERIC Educational Resources Information Center

Martini, Rose; Polatajko, Helene J.

1998-01-01

Replicating a 1994 study, four children with developmental coordination disorder (DCD) were taught a verbal self-guidance strategy (Goal, Plan, Do, Check) by an occupational therapist. All four improved performance in attaining their occupational goals, supporting the possible use of a cognitive strategy with children with DCD. (SK)

"DC:0-3" to "DC:0-3R" to "DC:0-5": A New Edition

ERIC Educational Resources Information Center

Zeanah, Charles H., Jr.; Carter, Alice; Cohen, Julie; Egger, Helen; Keren, Miri; Gleason, Mary Margaret; Lieberman, Alicia F.; Mulrooney, Kathleen; Oser, Cindy

2015-01-01

Originally published in 1994 by ZERO TO THREE as the "Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood" ("DC:0-3") and revised in 2005 by ZERO TO THREE as the "Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood, Revised…

Introducing a New Classification of Early Childhood Disorders: DC:0-5™

ERIC Educational Resources Information Center

Zeanah, Charles H.; Carter, Alice S.; Cohen, Julie; Egger, Helen; Gleason, Mary Margaret; Keren, Miri; Lieberman, Alicia; Mulrooney, Kathleen; Oser, Cindy

2017-01-01

This article introduces the revised and updated "DC:0-5™: Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood." The authors describe the past and current efforts to create a developmentally based classification system for very young children. DC:0-3, published in 1994 by ZERO TO THREE,…

Empirically Based Phenotypic Profiles of Children with Pervasive Developmental Disorders: Interpretation in the Light of the DSM-5

ERIC Educational Resources Information Center

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.

2013-01-01

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…

Behavioral Approaches to the Treatment of Sleep Problems in Children with Developmental Disorders: What Is the State of the Art?

ERIC Educational Resources Information Center

Richdale, Amanda; Wiggs, Luci

2005-01-01

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…

Obesity and Motor Coordination Ability in Taiwanese Children with and without Developmental Coordination Disorder

ERIC Educational Resources Information Center

Zhu, Yi-Ching; Wu, Sheng K.; Cairney, John

2011-01-01

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…

Identifying Subtypes among Children with Developmental Coordination Disorder and Mathematical Learning Disabilities, Using Model-Based Clustering

ERIC Educational Resources Information Center

Pieters, Stefanie; Roeyers, Herbert; Rosseel, Yves; Van Waelvelde, Hilde; Desoete, Annemie

2015-01-01

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…

Psychosocial Adjustment and Attention in Children with Developmental Coordination Disorder Using Different Motor Tests

ERIC Educational Resources Information Center

Chen, Yu-Wei; Tseng, Mei-Hui; Hu, Fu-Chang; Cermak, Sharon A.

2009-01-01

This study examined the consistency between the findings of developmental coordination disorder (DCD) as identified by the Bruininks-Oseretsky Test of Motor Proficiency (BOTMP) and the Movement Assessment Battery for Children (MABC), and explored the psychosocial and attention characteristics of children with DCD identified by the two motor tests,…

RETT'S SYNDROME : A CASE REPORT

PubMed Central

Gupta, Vinay

2001-01-01

Rett's syndrome is a rare condition affecting only the girl child. It presents as a pervasive developmental disorder with a remarkable behavioural phenotype. The cause for this remains unknown but genetic factors and brain dysfunction have been implicated. This case report emphasises the importance of being aware of rare yet significant disorders of interest to neuro-developmental psychiatrists. PMID:21407847

Beyond Time Out: A Practical Guide to Understanding and Serving Students with Behavioral Impairments in the Public Schools. Second Edition.

ERIC Educational Resources Information Center

Stewart, John

This text is designed, through the use of a developmental framework, to support effective work with students with behavior disorders and students who have behavior disorders and additional disabilities. Presentation of developmental theory, case studies and illustrations explain many puzzling aspects of problem behavior and outline appropriate…

Metacognition in Speech and Language Therapy for Children with Social (Pragmatic) Communication Disorders: Implications for a Theory of Therapy

ERIC Educational Resources Information Center

Gaile, Jacqueline; Adams, Catherine

2018-01-01

Background: Metacognition is a significant component of complex interventions for children who have developmental language disorders. Research into how metacognition operates in the content or process of developmental language therapy delivery is limited. Identification and description of proposed active therapy components, such as metacognition,…

Using Antecedent Exercise to Decrease Challenging Behavior in Boys with Developmental Disabilities and an Emotional Disorder

ERIC Educational Resources Information Center

Cannella-Malone, Helen I.; Tullis, Christopher A.; Kazee, Aline R.

2011-01-01

Some individuals with developmental disabilities and emotional disorders may engage in challenging behavior that can result in the use of aversive procedures and/or seclusion from typically developing peers. They may also engage in low levels of physical activity. One way to decrease challenging behaviors while increasing overall levels of…

Interventions for Children with Pervasive Developmental Disorders in Low and Middle Income Countries

ERIC Educational Resources Information Center

Hastings, Richard P.; Robertson, Janet; Yasamy, M. T.

2012-01-01

Background: Although interventions for children with pervasive developmental disorders (PDD) have been the focus of research effort and evidence reviews in many Western countries, this evidence has not been assessed in the context of low- and middle-income (LAMI) countries especially in terms of the fit with different cultures and resources.…