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Developmental Disorders (developmental + disorders)
Kinds of Developmental Disorders Selected AbstractsAssessment of Children With Pervasive Developmental DisordersJOURNAL OF CHILD AND ADOLESCENT PSYCHIATRIC NURSING, Issue 4 2001Kathleen Koenig MSN [source] Prevalence of Pervasive Developmental Disorders in Two Canadian ProvincesJOURNAL OF POLICY AND PRACTICE IN INTELLECTUAL DISABILITIES, Issue 3 2006Hélène Ouellette-Kuntz Abstract, 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 increases are due to a true change in risk, has made PDDs a major public health concern. As few data exist on the prevalence of PDDs in Canada, the aim of this study was to estimate the prevalence of diagnosed PDDs in two Canadian provinces (Manitoba and Prince Edward Island (PEI)) and compare characteristics of diagnosed cases between the two regions. To obtain the estimates, children under the age of 15 years with a PDD diagnosis who lived in either province in 2002 were identified by workers at Children's Special Services, a provincial government program that supports children with special needs in Manitoba, and by the PEI provincial early intervention coordinator (Department of Social Services and Seniors) and special education autism coordinator (Department of Education). The findings show that the prevalence among children 1,14 years of age was 28.4 per 10,000 (95% confidence interval: 26.1,30.8) in Manitoba and 35.2 per 10,000 (95% confidence interval: 28.2,43.4) in PEI. In Manitoba, children of aboriginal identity with PDDs (8.3%) were significantly underrepresented compared with the general population of aboriginal children living off native reserves (15.6%). Sex ratio, sibling risk, and age at initial diagnosis were similar in the two provinces. These findings can serve as a baseline from which to monitor the prevalence of these conditions over time, providing valuable data for researchers, planners, and service providers. [source] Relating psychiatric disorders, offender and offence characteristics in a sample of adolescent sex offenders and non-sex offendersCRIMINAL BEHAVIOUR AND MENTAL HEALTH, Issue 1 2007A.Ph. Van Wijk Introduction,Several studies have paid attention to the relationship between psychiatric disorders and adolescent offending but few have distinguished different types of offenders, especially within the category of youngsters who have committed sex offences. Aim,To test for relationships between psychiatric disorder and specific offence category among young male offenders. Method,Nationwide data were extracted from Dutch Forensic Psychiatric Services (FPD) files for five groups of offenders, as defined by their index offence: 308 violent sex offenders; 134 non-violent sex-offenders; 270 sex offenders against children; 3148 violent offenders and 1620 offenders charged with any crime other than interpersonal body contact crimes. They were compared on individual characteristics and psychiatric diagnoses according to DSM-IV criteria. Having a diagnosis of a paraphilia alone was exclusively associated with sex offending, therefore all such youths were excluded from further analyses. The OVERALS technique was used to explore possible relationships between offence, psychiatric diagnoses, sociodemographic and individual characteristics among the remaining young men for whom all pertinent data were available (n = 1894). Results,Sex offenders constituted a distinct group of juvenile delinquents. Developmental disorders were more common among non-violent sex offenders and child molesters. Violent offences were more typical of delinquents from immigrant backgrounds. Conclusion,Group differences in types of psychiatric diagnoses may reflect differences in aetiological factors for the various types of sexual and other delinquent behaviour, and this would be worthy of further study. Copyright © 2007 John Wiley & Sons, Ltd. [source] Developmental disorders of glucose metabolism in infantsCHILD: CARE, HEALTH AND DEVELOPMENT, Issue 2002R. Hume Abstract Background Developmental failures to adequately control postnatal blood glucose levels are common in the transition from fetal to infant life and can persist for many months. The standard method of functionally measuring hepatic glucose production and/or disordered glucose production is the response to a glucagon tolerance test. Method We adapted the standard glucagon tolerance test used for children and adults for use in preterm infants. 79 consecutive preterm infants gestational age range 25,36 weeks (mean 32.2 weeks), mean birth weight 1.66 kg admitted to the Neonatal Intensive Care Unit, Ninewells Hospital, Dundee and who survived to discharge home were recruited into the study. At the time of discharge home the characteristics of the group were as follows: adjusted mean gestational age 36.7 weeks, mean discharge weight 2.23 kg. Results In this study of preterm infants the maximal increase in plasma glucose following administration of a glucagon tolerance test is 1.39 ± 07 mmol/L, n = 78 (range 0,3.98 mmol/L). Conclusions An increase in plasma glucose of less than 4 mmol/L is considered abnormal in adults following administration of a fasting glucagon tolerance test. The responses of preterm infants and adults to glucagon are clearly different. The attenuated response to glucagon in the preterm infants is consistent with the low levels of hepatic glucose-6-phosphatase activity in premature infants as glucose-6-phosphatase is the terminal step of the two main pathways of liver glucose production. [source] Congenital polymicrogyria including the perisylvian region in early childhoodCONGENITAL ANOMALIES, Issue 1 2010Tomoyuki Takano ABSTRACT Six pediatric cases including four infants with congenital polymicrogyria including the perisylvian region are presented herein. Their clinical features were analyzed and compared with patients suffering from congenital bilateral perisylvian syndrome (CBPS). Two specific abnormalities were diagnosed as accompanying disorders in two cases, namely Kabuki syndrome and Peters' anomaly. In the other four cases, the pathogenetic etiology was not elucidated. Subtle symptoms, such as choking and drooling became detectable in one case each, and expressive language development was delayed in two patients. A developmental delay became apparent in five cases during the follow-up period, and epilepsy was observed in one patient with onset at 12 years of age. Our results indicate that the presence of perisylvian polymicrogyria may not always result in the development of oropharyngoglossal dysfunction or dysarthria, although most patients tend to gradually show the onset of developmental disorders. To support cognitive and psychosocial development, an early integrated approach, including not only conventional speech and language therapy, but also various communication methods is essential for patients with congenital polymicrogyria including the perisylvian region. [source] Pervasive developmental disorders in individuals with cerebral palsyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 4 2009AYSE KILINCASLAN MD 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, diplegic, dyskinetic, or mixed types of cerebral palsy (CP); 28% could not crawl or walk even with support, 29% could move with support, and 43% walked independently. Participants were examined for PDD in two stages. In the first stage, probable participants were determined by direct observation, Autism Behavior Checklist score, and medical reports. In the second stage, those with ,probable' symptoms underwent psychiatric examination and their autistic symptoms were scored on the Childhood Autism Rating Scale. The final diagnosis of autistic disorder or PDD-NOS was given according to DSM-IV criteria. Fourteen (11%) and five (4%) of the participants met the criteria for autistic disorder and PDD-NOS respectively. Children with CP and PDD differed from those without PDD in terms of type of CP (p=0.02), presence of epilepsy (p<0.001), intellectual level (p<0.001), and level of speech (p<0.001). PDD was more common in children with tetraplegic, mixed, and hemiplegic CP, and in children with epilepsy, learning disability,, and low level of speech. The findings corroborate the notion that CP is a complex disorder, often associated with additional impairments. PDD is not rare in CP and should be considered in patients with comorbid conditions such as epilepsy, learning disability, and language delay and in the presence of tetraplegic, mixed, and hemiplegic CP types. [source] Motor stereotypies in children with autism and other developmental disordersDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 1 2009SYLVIE GOLDMAN PHD 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 recorded during 15 minutes of archived videos of standardized play sessions in 277 children (209 males, 68 females; mean age 4y 6mo [SD 1y 5mo], range 2y 11mo,8y 1mo), 129 with autistic disorder (DSM-III-R), and 148 cognitively-matched non-autistic developmentally disordered (NADD) comparison children divided into developmental language disorder and non-autism, low IQ (NALIQ) sub-groups. The parts of the body involved and characteristics of all stereotypies were scored blind to diagnosis. More children with autism had stereotypies than the NADD comparison children. Autism and, to a lesser degree, nonverbal IQ (NVIQ) <80, especially in females contributed independently to the occurrence, number, and variety of stereotypies, with non-autistic children without cognitive impairment having the least number of stereotypies and children with autism and low NVIQ the most. Autism contributed independently to gait and hand/finger stereotypies and NVIQ <80 to head/trunk stereotypies. Atypical gazing at fingers and objects was rare but virtually limited to autism. Stereotypies are environmentally modulated movement disorders, some highly suggestive, but not pathognomonic, of autism. Their underlying brain basis and genetic correlates need investigation. [source] Transient expression of serotonin 5-HT4 receptors in the mouse developing thalamocortical projectionsDEVELOPMENTAL NEUROBIOLOGY, Issue 3 2010Erin R. Slaten Abstract The serotonin 5-HT4 receptor (5-HT4 -R) is an unusually complex G-protein coupled receptor that is likely to play important roles in brain development and that may underlie the comorbidity of central and peripheral abnormalities in some developmental disorders. We studied the expression of 5-HT4 -Rs in the developing mouse forebrain at embryonic days 13, 15, 17, and at postnatal days 3 and 14 by using immunohistochemistry, tract tracing, and quantitative RT-PCR. The developing thalamocortical projections transiently expressed 5-HT4 -Rs in the embryonic brain and the 5-HT4 -R expression in the forebrain changed from axonal to somatic around birth. From embryonic days 13,17, the forebrain mRNA levels of the 5-HT4(a) -R and 5-HT4(b) -R splice variants increased nine- and fivefold, respectively, whereas the levels of the 5-HT4(e) -R and 5-HT4(f) -R variants remained relatively low throughout the studied period of embryonic development. These results suggest that during development 5-HT4 -R expression undergoes a dynamic regulation and that this regulation may be important for the normal development of sensory and limbic processing. © 2009 Wiley Periodicals, Inc. Develop Neurobiol, 2010. [source] Neural precursor cells from a fatal human motoneuron disease differentiate despite aberrant gene expressionDEVELOPMENTAL NEUROBIOLOGY, Issue 3 2007Niklas Pakkasjärvi Abstract Precursor cells of the human central nervous system can be cultured in vitro to reveal pathogenesis of diseases or developmental disorders. Here, we have studied the biology of neural precursor cells (NPCs) from patients of lethal congenital contracture syndrome (LCCS), a severe motoneuron disease leading to prenatal death before the 32nd gestational week. LCCS fetuses are immobile because of a motoneuron defect, seen as degeneration of the anterior horn and descending tracts of the developing spinal cord. The genetic defect for the syndrome is unknown. We show that NPCs isolated postmortem from LCCS fetuses grow and are maintained in culture, but display increased cell cycle activity. Global transcript analysis of undifferentiated LCCS precursor cells present with changes in EGF-related signaling when compared with healthy age-matched human controls. Further, we show that LCCS-derived NPCs differentiate into cells of neuronal and glial lineage and that the initial differentiation is not accompanied by overt apoptosis. Cells expressing markers Islet-1 and Hb9 are also generated from the LCCS NPCs, suggesting that the pathogenic mechanism of LCCS does not directly affect the differentiation capacity or survival of the cells, but the absence of motoneurons in LCCS may be caused by a noncell autonomous mechanism. © 2007 Wiley Periodicals, Inc. Develop Neurobiol, 2007 [source] Cross-Modal transfer of the conditioned eyeblink response during interstimulus interval discrimination training in young ratsDEVELOPMENTAL PSYCHOBIOLOGY, Issue 7 2008Kevin L. Brown Abstract Eyeblink classical conditioning (EBC) was observed across a broad developmental period with tasks utilizing two interstimulus intervals (ISIs). In ISI discrimination, two distinct conditioned stimuli (CSs; light and tone) are reinforced with a periocular shock unconditioned stimulus (US) at two different CS,US intervals. Temporal uncertainty is identical in design with the exception that the same CS is presented at both intervals. Developmental changes in conditioning have been reported in each task beyond ages when single-ISI learning is well developed. The present study sought to replicate and extend these previous findings by testing each task at four separate ages. Consistent with previous findings, younger rats (postnatal day,PD23 and 30) trained in ISI discrimination showed evidence of enhanced cross-modal influence of the short CS,US pairing upon long CS conditioning relative to older subjects. ISI discrimination training at PD43,47 yielded outcomes similar to those in adults (PD65,71). Cross-modal transfer effects in this task therefore appear to diminish between PD30 and PD43,47. Comparisons of ISI discrimination with temporal uncertainty indicated that cross-modal transfer in ISI discrimination at the youngest ages did not represent complete generalization across CSs. ISI discrimination undergoes a more protracted developmental emergence than single-cue EBC and may be a more sensitive indicator of developmental disorders involving cerebellar dysfunction. © 2008 Wiley Periodicals, Inc. Dev Psychobiol 50: 647-664, 2008. [source] Rats selectively bred for low levels of 50 kHz ultrasonic vocalizations exhibit alterations in early social motivationDEVELOPMENTAL PSYCHOBIOLOGY, Issue 4 2008K.M. Harmon Abstract In rats, the rates of 50 kHz ultrasonic vocalizations (USVs) can be used as a selective breeding phenotype and variations in this phenotype can be an indicator of affective states. The 50 kHz USV is elicited by rewarding stimuli (e.g., food, sexual behavior) and therefore can express a positive affective state. Conversely, the 22 kHz USV is elicited by aversive stimuli (e.g., presence of a predator, social defeat) indicating a negative affective state. In the present study, we tested the effect of selectively breeding for 50 kHz USVs on a variety of maternal social/emotional behaviors in young rat pups (PND 10-12). These measures consisted of an assessment of isolation calls and conditioned odor preference paradigm. Results indicate that animals selected for low levels of 50 kHz USVs show the greatest alterations in social behaviors compared to the control animals. The low line animals had an increase in isolation calls tested during place preference conditioning and a decrease in 50 kHz ultrasonic calls in all conditions. These same low line animals failed to show a typical preference for a maternally-associated odor during the place preference test. The different social behaviors of the high line animals did not consistently vary from those of the control group. These results have important implications for the study of genetic and epigenetic mechanisms underlying emotional states, and possibly contribute to the research underlying the emotional changes in developmental disorders such as autistic spectrum disorder by providing a novel animal model that displays communication deficits that are interdependent with significant social behavioral impairments. © 2008 Wiley Periodicals, Inc. Dev Psychobiol 50: 322,331, 2008. [source] Multiple causality in developmental disorders: methodological implications from computational modellingDEVELOPMENTAL SCIENCE, Issue 5 2003Michael S.C. Thomas When developmental disorders are defined on the basis of behavioural impairments alone, there is a risk that individuals with different underlying cognitive deficits will be grouped together on the basis that they happen to share a certain impairment. This phenomenon is labelled multiple causality. In contrast, a developmental disorder generated by a single underlying cognitive deficit may nevertheless show variable patterns of impairments due to individual differences. Connectionist computational models of development are used to investigate whether there may be ways to distinguish disorder groups with a single underlying cause (homogeneous disorder groups) from disorder groups with multiple underlying causes (heterogeneous disorder groups) on the basis of behavioural measures alone. A heuristic is proposed to assess the underlying causal homogeneity of the disorder group based on the variability of different behavioural measures from the target domain. Heterogeneous disorder groups are likely to show smaller variability on the measure used to define the disorder than on subsequent behavioural measures, while homogeneous groups should show approximately equivalent variability. Homogeneous disorder groups should show reductions in the variability of behavioural measures over time, while heterogeneous groups may not. It is demonstrated how these predictions arise from computational assumptions, and their use is illustrated with reference to behavioural data on naming skills from two developmental disorder groups, Williams syndrome and children with Word Finding Difficulties. [source] Deviations in the emergence of representations: a neuroconstructivist framework for analysing developmental disordersDEVELOPMENTAL SCIENCE, Issue 1 2000Andrew Oliver A common way of studying developmental disorders is to adopt a static neuropsychological deficit approach, in which the brain is characterized in terms of a normal brain with some parts or ,modules' impaired. In this paper we outline a neuroconstructivist approach in which developmental disorders are viewed as alternative developmental trajectories in the emergence of representations within neural networks. As a concrete instantiation of the assumptions underlying this general approach, we present a number of simulations in an artificial neural network model. The representations that emerge under different architectural, input and developmental timing conditions are then analysed within a multi-dimensional state space. We explore alternative developmental trajectories in these simulations, demonstrating how initial differences in the same parameter can lead to very different outcomes, and conversely how different starting states can sometimes result in similar end states (phenotypes). We conclude that the assumptions of the neuroconstructivist approach are likely to be more appropriate for analysing developmental deviations in complex dynamic neural networks, such as the human brain. [source] PAX9 polymorphisms and susceptibility to sporadic tooth agenesis: a case,control study in southeast ChinaEUROPEAN JOURNAL OF ORAL SCIENCES, Issue 2 2008Yongchu Pan Tooth agenesis is one of the most common developmental disorders in humans. The PAX9 gene, which plays an important role in odontogenesis, is associated with familial and sporadic tooth agenesis. A case,control study was performed in 102 subjects with tooth agenesis (cases) and 116 healthy controls. We genotyped four PAX9 gene polymorphisms using a polymerase chain reaction,restriction fragment length polymorphism (PCR-RFLP) assay. The allele and genotype frequencies of the four polymorphisms were not significantly different between the controls and the subjects with tooth agenesis. Similar results were observed in a subgroup analysis of test subjects only with mandibular incisor agenesis. Further analysis showed no significant difference in the haplotype distribution between the controls and the subjects with tooth agenesis or mandibular incisor agenesis. However, we found that the AGGC haplotype was associated with a decreased risk of tooth agenesis, compared with the most common haplotype, AGCC (odds ratio, 0.14; 95% confidence interval: 0.00,0.95). These results suggest that the four PAX9 polymorphisms alone have a non-significant main effect on the risk of tooth agenesis but that the AGGC haplotype may have a protective effect associated with a decreased risk of tooth agenesis. [source] PERSPECTIVE: EMBEDDED MOLECULAR SWITCHES, ANTICANCER SELECTION, AND EFFECTS ON ONTOGENETIC RATES: A HYPOTHESIS OF DEVELOPMENTAL CONSTRAINT ON MORPHOGENESIS AND EVOLUTIONEVOLUTION, Issue 5 2003Kathryn D. Kavanagh Abstract The switch between the cell cycle and the progress of differentiation in developmental pathways is prevalent throughout the eukaryotes in all major cell lineages. Disruptions to the molecular signals regulating the switch between proliferative and differentiating states are severe, often resulting in cancer formation (uncontrolled proliferation) or major developmental disorders. Uncontrolled proliferation and developmental disorders are potentially lethal defects in the developing animal. Therefore, natural selection would likely favor a tightly controlled regulatory mechanism to help prevent these fundamental defects. Although selection is usually thought of as a consequence of environmental or ecological influences, in this case the selective force to maintain this molecular switch is internal, manifested as a potentially lethal developmental defect. The morphogenetic consequences of this prevalent, deeply embedded, and tightly controlled mechanistic switch are currently unexplored, however experimental and correlative evidence from several sources suggest that there are important consequences on the control of growth rates and developmental rates in organs and in the whole animal. These observations lead one to consider the possibility of a developmental constraint on ontogenetic rates and morphological evolution maintained by natural selection against cancer and other embryonic lethal defects. [source] Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome,Hirschsprung disease association,HUMAN MUTATION, Issue 5 2009Stacey Arnold Abstract Individuals with Down syndrome (DS) display a 40-fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR etiology. Here we demonstrate that the RET enhancer polymorphism RET+9.7 (rs2435357:C>T) at chromosome 10q11.2 is associated with HSCR in DS individuals both by transmission disequilibrium (P=0.0015) and case,control (P=0.0115) analysis of matched cases. Interestingly, the RET+9.7 T allele frequency is significantly different between individuals with DS alone (0.26±0.04), HSCR alone (0.61±0.04), and those with HSCR and DS (0.41±0.04), demonstrating an association and interaction between RET and chromosome 21 gene dosage. This is the first report of a genetic interaction between a common functional variant (rs2435357) and a not infrequent copy number error (chromosome 21 dosage) in two human developmental disorders. Hum Mutat 30:1,5, 2009. © 2009 Wiley-Liss, Inc. [source] Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization,,HUMAN MUTATION, Issue 11 2007Yao-Shan Fan Abstract Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances associated with clinical syndromes, but also a large number of copy number variations (CNVs), which have complicated the interpretation of results. We studied 100 consecutive patients with unexplained mental retardation and a normal karyotype using several platforms of CGH arrays. A genomewide array with 44,290 oligonucleotide probes (OaCGH44K) detected imbalances in 15% of cases studied with sizes ranged from 459,kb to 19,Mb while revealing a small number of CNVs (0.72/individual). Another platform with ,240,000 oligonucleotide probes (OaCGH244K) revealed a large number of CNVs (20/individual) in selected cases and their normal parents. We used a comprehensive approach for interpreting the results of aCGH, including consideration of the size, inheritance and gene content of CNVs, and consultation with an online Database of Genomic Variants (DGV) and Online Mendelian Inheritance in Men (OMIM) for information on the genes involved. Our study suggests that genomewide oligonucleotide arrays such as the OaCGH44K platform can be used as a powerful diagnostic tool for detection of genomic imbalances associated with unexplained mental retardation or syndromic autism spectrum disorders. It is interesting to note that a small number of common variants were revealed by OaCGH244K in some study subjects but not in their parents and that some inherited CNVs had altered breakpoints. Further investigations on these alterations may provide useful information for understanding the mechanism of CNVs. Hum Mutat 28(11),1124,1132, 2007. © 2007 Wiley-Liss, Inc. [source] The ,oestrogen hypothesis', where do we stand now?,INTERNATIONAL JOURNAL OF ANDROLOGY, Issue 1 2003Richard M. Sharpe Summary The original ,oestrogen hypothesis' postulated that the apparent increase in human male reproductive developmental disorders (testis cancer, cryptorchidism, hypospadias, low sperm counts) might have occurred because of increased oestrogen exposure of the human foetus/neonate; five potential routes of exposure were considered. This review revisits this hypothesis in the light of the data to have emerged since 1993. It addresses whether there is a secular increasing trend in the listed disorders and highlights the limitations of available data and how these are being addressed. It considers whether new data has emerged to support the suggestion that increased oestrogen exposure could cause these abnormalities and reviews new data on potential routes via which such increased exposure could have occurred. Secular trends: The disorders listed above are now considered to represent a syndrome of disorders (testicular dysgenesis syndrome, TDS) with a common origin in foetal life. Testicular cancer has increased in incidence in Caucasian men worldwide and lifetime risk is 0.3,0.8%. Secular trends in cryptorchidism are unclear but it is by far the commonest (2,4% at birth) congenital abnormality in either sex. Secular trends for hypospadias are not robust, although most studies suggest a progressive increase; registry data probably under-estimates incidence, but based on this data hypospadias is the second most common (0.3,0.7% at birth) congenital malformation. Retrospective analyses of sperm count data show a global downward trend but this is inconclusive , prospective studies using standardized methodology show significant differences between countries and very low sperm counts in the youngest cohort of men. For all disorders, other then testis cancer, standardized prospective studies are the best way forward and are in progress across Europe. Oestrogen effects: Evidence that foetal exposure to oestrogens can induce the above disorders has strengthened. New pathways via which such changes could be induced have been identified, including suppression of testosterone production by the foetal testis, suppression of androgen receptor expression and suppression of insulin-like factor-3 (InsL3) production by foetal Leydig cells. Other evidence suggests that the balance between androgen and oestrogen action may be important in induction of reproductive tract abnormalities. Oestrogen exposure: Although many new environmental oestrogens have been identified, their uniformly weak oestrogenicity excludes the possibility that they could induce the above disorders. However, emerging data implicates various environmental chemicals in being able to alter endogenous levels of androgens (certain phthalates) and oestrogens (polychlorinated biphenyls, polyhalogenated hydrocarbons), and the former have been shown to induce a similar collection of disorders to TDS. Other mechanisms via which increased fetal exposure to pregnancy oestrogens might occur (increasing trend in obesity, dietary changes) are also discussed. [source] Impact of selected inborn errors of metabolism on prenatal and neonatal developmentIUBMB LIFE, Issue 6 2010Sabine Illsinger Abstract In general, data regarding maturational processes of different metabolic pathways in the very vulnerable fetal and neonatal period are rare. This review is to substantiate the impact of selected inborn errors of metabolism on this critical period of life and their clinical manifestation. Significant adaptation of mitochondrial/energy-, carbohydrate-, lysosomal-, and amino acid-metabolism occurs during early prenatal and neonatal development. In utero, metabolic environment has an impact on the development of the fetus as well as fetal organ maturation. Defects of distinct metabolic pathways could therefore already be of significant relevance in utero and for clinical manifestations in the early fetal and neonatal period. Disturbances of these pathways may influence intrauterine growth and health. Production of a toxic intrauterine milieu, energy-deficiency, modification of membrane function, or disturbance of the normal intrauterine expression of genes may be responsible for fetal compromise and developmental disorders. Three categories of metabolic disorders will be discussed: the "intoxication type" (classical galactosemia, ornithine transcarbamylase deficiency, and "maternal phenylketonuria"), the "storage type" (Morbus Niemann Pick type C), and the "energy deficient type" (including long-chain fatty acid oxidation disorders, pyruvate dehydrogenase deficiency, and respiratory chain defects). For these disorders, the pathophysiology of early manifestation, special aspects regarding the prenatal and neonatal period, and diagnostic as well as therapeutic options are presented. © 2010 IUBMB IUBMB Life, 62(6): 403,413, 2010 [source] Nuclear localization signals and human diseaseIUBMB LIFE, Issue 7 2009Laura M. McLane Abstract In eukaryotic cells, the physical separation of the genetic material in the nucleus from the translation and signaling machinery in the cytoplasm by the nuclear envelope creates a requirement for a mechanism through which macromolecules can enter or exit the nucleus as necessary. Nucleocytoplasmic transport involves the specific recognition of cargo molecules by transport receptors in one compartment followed by the physical relocation of that cargo into the other compartment through regulated pores that perforate the nuclear envelope. The recognition of protein cargoes by their transport receptors occurs via amino acid sequences in cargo proteins called nuclear targeting signals. Both nuclear import and export of proteins are highly regulated processes that control, not only what cargo can enter and/or exit the nucleus, but also when in the cell cycle and in what cell type, the cargo can be transported. Deregulation of the nuclear transport of specific cargoes has been linked to numerous cancers and developmental disorders highlighting the importance of understanding the mechanisms underlying nucleocytoplasmic transport and particularly the modulation of the specific interactions between transporter receptors and nuclear targeting signals within target cargo proteins. © 2009 IUBMB IUBMB Life 61(7): 697,706, 2009 [source] The Changing Epidemiology of AutismJOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES, Issue 4 2005Eric Fombonne This article reviews epidemiological studies of autism and related disorders. Study designs and sample characteristics are summarized. Currently, conservative prevalence estimates are: 13/10000 for autistic disorder, 21/10000 for pervasive developmental disorders not otherwise specified, 2.6/10000 for Asperger disorder, and 2/100000 for childhood disintegrative disorder. Newer surveys suggest that the best estimate for the prevalence of all autistic spectrum disorders is close to 0.6%. A detailed analysis of time trends in rates of pervasive developmental disorders in then provided. It is concluded that most of the increase is accounted for by changes in diagnostic concepts and criteria, and by improved identification. Whether or not there is, in addition to these factors, a true increase in the incidence of the disorder cannot be examined from available data. [source] Comments on ,Significance of developmental expression of amphioxus Branchiostoma belcheri and zebrafish Danio rerio Hsd17b10 in biological and medical research'JOURNAL OF FISH BIOLOGY, Issue 8 2009X. He The reported data on the developmental expression of Hsd17b10 gene in Danio rerio is crucial to the utilization of the D. rerio embryo as an animal model for human developmental disorders caused either by mutations on HSD17B10 (formerly HADH2) or by defective expression of the gene. Related diseases were summarized, and it was noticed that hyperinsulinaemic hypoglycaemia is not linked to HSD17B10. This inherited disease is actually caused by a deletion in the HADH gene on chromosome 4. Moreover, it was found by a revision of the reported phylogenetic tree that hydroxyacyl-CoA dehydrogenase II or rather hydroxysteroid (17beta) dehydrogenase 10 (HSD10) of amphioxus Branchiostoma belcheri,occupies a transition position from HSD10 orthologs of invertebrates to those of vertebrates. [source] A neuropsychological assessment of frontal cognitive functions in Prader,Willi syndromeJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 5 2007J. Jauregi Abstract Background Prader,Willi syndrome (PWS) is associated with a characteristic behavioural phenotype whose main features are, alongside compulsive hyperphagia, deficits in social behaviour: social withdrawal, temper tantrums, perseverative speech and behaviour, mental rigidity, stereotyped behaviour, impulsiveness, etc. Similar symptoms may also be found in autistic spectrum disorders and lesional pathologies of the frontal lobe. In both cases, such symptoms have been related to dysfunctions in frontal cognitive processes such as attention, working memory and executive functions. This study uses standardized neuropsychological instruments to analyse the degree to which these processes are affected in PWS. Methods The sample comprised 16 individuals with a genetically confirmed PWS diagnosis. Subjects' IQ (Wechsler Adult Intelligence Scale), academic level, laterality and body mass index (BMI) were calculated. Attention, memory and executive functions were analysed using standard, widely employed neuropsychological tests. We compared the results of the sample group with the general population. Correlation analyses were carried out with IQ, academic level and BMI. Results In all the neuropsychological measures focusing on attention, executive functions and visuoperceptual organization, the study sample scored significantly lower than the normative reference population. The scores of the tests used for measuring immediate memory were also significantly lower when trials required sequential processing, although not when they required simultaneous processing. In the memorization of a list of words, subjects showed an initial deficit which disappeared with repetition, enabling them to obtain scores similar to the reference population. No significant correlations were found with BMI, and a higher IQ or academic level did not improve scores in the majority of tests. Conclusions The study shows a deficit in elementary frontal cognitive processes in PWS patients. This deficit may be involved in the social behaviour disorders that characterize such patients, as described in other development or frontal syndrome pathologies. However, we cannot affirm that the deficits found are specific to PWS; they could also occur in other causes of intellectual disability. Although in the study sample IQ did not correlate with frontal deficits, further research is needed to establish whether the neuropsychological alterations described form part of a cognitive phenotype for PWS. We believe that our understanding of the social behaviours typical of PWS may be improved by taking into consideration the cognitive functioning models of the prefrontal lobe, particularly those applied to pervasive developmental disorders. [source] Prevalence of gastrointestinal disorders in adult clients with pervasive developmental disordersJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 10 2006G. Galli-Carminati Abstract 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 PDD sample and to demonstrate the importance of accurate evaluation of gastrointestinal disorders in clients with PDD. Methods The present comparative study involved 118 clients. Our research was motivated by the clinical observation that behavioural disorders sometimes disappeared with administration of anti-gastric acid or anti-ulcerous medications. It focused on two samples of clients with intellectual disability , those with associated PDD and those without. The presence of gastrointestinal disorders was assessed retrospectively on the basis of hospital records. Results The prevalence of gastrointestinal disorders reported in clinical files was 48.8% in clients with PDD, as compared with 8.0% in non-PDD clients (P < 0.00001). Conclusion Gastrointestinal disorders, and especially gastro-oesophageal reflux, if neglected, may contribute to behavioural disorders in PDD clients. Moreover, gastrointestinal disorders may be considered as a feature of PDD. We highlight the fact that somatic disorders may coexist in persons with PDD. [source] Social skills in children with intellectual disabilities with and without autismJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 5 2005A. De Bildt Abstract Background Social skills were studied in 363 children with mild intellectual disabilities (ID) and 147 with moderate ID with and without autism (age 4 through 18). The objective was to investigate the value of the Children's Social Behaviour Questionnaire (CSBQ), as a measure of subtle social skills, added to a measure of basic social skills with the Vineland Adaptive Behaviour Scales (VABS), in identifying children with ID with or without autism. Method Children with mild and moderate ID, with and without autistic symptomatology were compared on basic social skills, measured with the Communication and Socialization domains of the VABS, and subtle social skills, measured with the CSBQ. Results Measuring basic social skills is not sufficient in differentiating between levels of ID. Communicative skills and subtle social skills, that concern overlooking activities or situations and fear of changes in the existing situation, seem to play a far greater role. Additionally, with respect to identifying autistic symptomatology, basic social skills do not contribute, as opposed to communicative skills and the tendency to withdraw from others. Conclusions The results implicate that the CSBQ not only has specific value as a measure of subtle social skills to identify pervasive developmental disorders, but that the instrument also has a specific contribution to differentiating between the two levels of ID. Furthermore, our outcomes imply a slight difference between limitations in subtle social skills as mentioned by the AAMR (American Association on Mental Retardation 2002) and limitations in subtle social skills as seen in milder forms of pervasive developmental disorders. Clinical and theoretical implications will be discussed. [source] Developmental evaluation at age 4: Validity of an Italian parental questionnaireJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 7-8 2010Anna Maria Dall'Oglio Aim: To validate an Italian parental questionnaire designed to evaluate the neuropsychological and behavioural developmental status of 4-year-olds and identify children in need of further evaluation. Methods: The questionnaire (Questionario per la valutazione dello Sviluppo di bambini a 4 anni , Genitori (QS4-G) ) consisted of 93 questions divided into 10 areas: language, visual-motor abilities, memory/attention, fine and gross motor and self-help abilities, lateralisation, social skills, stress, sleep, alimentation and evacuation. It was distributed to 263 parents of 4-year-olds: 94 healthy preterm (gestational age <33 weeks and/or <1500 g, without major neurosensory damage); 44 children with developmental disorders and 125 children with typical development. Cognitive and neuropsychological evaluations were performed using standardised tests. Results: The internal consistency of the areas was adequate (Cronbach's alpha: 0.69,0.79). The correlation coefficients (r=|0.30|,|0.68|) with standardised tests (Griffiths, Vineland and neuropsychological tests) indicated a good concurrent validity. The receiver operating characteristic curve, for predicting a Griffiths Quotient less than 81, showed an area under the curve of 0.90 and a high diagnostic and discriminatory capacity (sensitivity of 0.88 and specificity of 0.84) for the optimal cut-off (value 48.4). Conclusion: The QS4-G seems to be a valid tool for identifying 4-year-old children at risk for low or borderline cognitive development and/or problematic behaviour who need a complete assessment. It can describe individual neuropsychological profiles. QS4-G is not a diagnostic tool. It is useful for outcome studies in preterm children and in other pathologies. It could also be useful for preschooler prevention programmes. [source] Eclecticism in health services for developmental disordersJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 3 2000M McDowell Abstract: The term ,eclectic', as applied to health care for children with developmental disorders, portrays an individualized, adaptive service response to local constraints and pressures. While this may appear appropriate for the local setting, the end result is a broad diversity of health care approaches. This paper discusses three separate processes that interact at a local level, increasing the likelihood of an eclectic local model of health care for this population of children. The first process draws from the direct clinical work. Variable training, knowledge and skills among health care providers, in combination with differing beliefs around the nature of the problems and their management leads to health care which directly reflects the attributes of the local clinicians. A separate, second process fuelling variability is the differing models of departmental responsibility across Australia , which Government departments fund which aspect of care for children with disabilities. The final process relates to funding streams for health care. State public health, federal Medicare and private insurance all support health services for children with disabilities, with the financial incentives (budgets compared to fee-for-service) driving a divergence of practice. This paper concludes that the external political, administrative and financial frameworks within which health care is constructed will continue to promote clinical eclecticism to a degree that would probably be considered unacceptable in other areas of child health care. The solution can only arise from within the clinical work itself, with greater clarity of understanding around the nature of the disorders, the outcomes for which health care takes responsibility, and an increasing focus on an evidence based set of approaches towards achieving these. [source] Prevalence of Pervasive Developmental Disorders in Two Canadian ProvincesJOURNAL OF POLICY AND PRACTICE IN INTELLECTUAL DISABILITIES, Issue 3 2006Hélène Ouellette-Kuntz Abstract, 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 increases are due to a true change in risk, has made PDDs a major public health concern. As few data exist on the prevalence of PDDs in Canada, the aim of this study was to estimate the prevalence of diagnosed PDDs in two Canadian provinces (Manitoba and Prince Edward Island (PEI)) and compare characteristics of diagnosed cases between the two regions. To obtain the estimates, children under the age of 15 years with a PDD diagnosis who lived in either province in 2002 were identified by workers at Children's Special Services, a provincial government program that supports children with special needs in Manitoba, and by the PEI provincial early intervention coordinator (Department of Social Services and Seniors) and special education autism coordinator (Department of Education). The findings show that the prevalence among children 1,14 years of age was 28.4 per 10,000 (95% confidence interval: 26.1,30.8) in Manitoba and 35.2 per 10,000 (95% confidence interval: 28.2,43.4) in PEI. In Manitoba, children of aboriginal identity with PDDs (8.3%) were significantly underrepresented compared with the general population of aboriginal children living off native reserves (15.6%). Sex ratio, sibling risk, and age at initial diagnosis were similar in the two provinces. These findings can serve as a baseline from which to monitor the prevalence of these conditions over time, providing valuable data for researchers, planners, and service providers. [source] Comparison of Adaptive Behavior in Children With Heavy Prenatal Alcohol Exposure or Attention-Deficit/Hyperactivity DisorderALCOHOLISM, Issue 11 2009Nicole Crocker Background:, Adaptive behavior, the ability to respond successfully to everyday demands, may be especially sensitive to the effects of heavy prenatal alcohol exposure. Similar adaptive dysfunction is common in other developmental disorders including attention-deficit/hyperactivity disorder (ADHD). ADHD is frequently present in alcohol-exposed children and this overlap in clinical presentation makes identification of alcohol-exposed children difficult. Direct comparison of children with prenatal alcohol exposure and ADHD may yield distinct patterns of cognitive and behavioral performance and add to growing knowledge of the neuropsychological and behavioral profile of prenatal alcohol exposure. Therefore, the aim of the current study was to compare adaptive behavior in children with histories of heavy prenatal alcohol exposure (ALC), nonexposed children with ADHD (ADHD), and typically developing controls (CON). Methods:, Sixty-five children (ALC = 22, ADHD = 23, CON = 20) were selected from a larger ongoing study of the behavioral teratogenicity of alcohol. Alcohol-exposed and control participants were selected to match the ADHD subjects on age, sex, socioeconomic status, and race/ethnicity. Caregivers were administered the Vineland Adaptive Behavior Scales, a semi-structured interview, and were asked to rate their child's behavior on 3 domains of adaptive function. Data were analyzed using regression techniques. Results:, Relative to controls, children in both the ALC and ADHD groups showed adaptive behavior deficits on all 3 domains and children in the ALC group were significantly more impaired than the ADHD group on the daily living skills domain. Within the ALC group, socialization standard scores were lower at older ages. This negative relationship between age and standard scores in the ALC group was also observed on the communication domain, a finding not previously reported. Conclusions:, This study suggests that both children with prenatal alcohol exposure and children with ADHD show impairments in adaptive function relative to controls, but that the pattern of impairment differs between these clinical groups. Adaptive ability in children with prenatal alcohol exposure is characterized by an arrest in development, as evidenced by a lack of improvement with age in socialization and communication scores. In contrast, children with ADHD exhibit a developmental delay in adaptive ability as their scores continued to improve with age, albeit not to the level of control children. Continued research focused on elucidating the patterns of deficits that exist in alcohol-exposed children ultimately will lead to improved differential diagnosis and effective interventions. [source] A Metric of Maternal Prenatal Risk Drinking Predicts Neurobehavioral Outcomes in Preschool ChildrenALCOHOLISM, Issue 4 2009Lisa M. Chiodo Background:, Fetal Alcohol Spectrum Disorders (FASDs), including Fetal Alcohol Syndrome, continue to be high-incidence developmental disorders. Detection of patterns of maternal drinking that place fetuses at risk for these disorders is critical to diagnosis, treatment, and prevention, but is challenging and often insufficient during pregnancy. Various screens and measures have been used to identify maternal risk drinking but their ability to predict child outcome has been inconsistent. This study hypothesized that a metric of fetal "at-risk" alcohol exposure (ARAE) derived from several indicators of maternal self-reported drinking would predict alcohol-related neurobehavioral dysfunctions in children better than individual measures of maternal alcohol consumption alone. Methods:, Self-reported peri-conceptional and repeated maternal drinking during pregnancy were assessed with semi-structured interviews and standard screens, i.e., the CAGE, T-ACE, and MAST, in a prospective sample of 75 African-American mothers. Drinking volumes per beverage type were converted to standard quantity and frequency measures. From these individual measures and screening instruments, a simple dichotomous index of prenatal ARAE was defined and used to predict neurobehavioral outcomes in the 4- to 5-year-old offspring of these women. Study outcomes included IQ, attention, memory, visual-motor integration, fine motor skill, and behavior. Statistical analyses controlled for demographic and other potential confounders. Results:, The current "at-risk" drinking metric identified over 62% of the mothers as drinking at risk levels,23% more than the selection criterion identified,and outperformed all individual quantity and frequency consumption measures, including averages of weekly alcohol use and "binge" alcohol exposures (assessed as intake per drinking occasion), as well as an estimate of the Maternal Substance Abuse Checklist (Coles et al., 2000), in predicting prenatal alcohol-related cognitive and behavioral dysfunction in 4- to 5-year-old children. Conclusions:, A metric reflecting multiple indices of "at-risk" maternal alcohol drinking in pregnancy had greater utility in predicting various prenatal alcohol-related neurobehavioral dysfunction and deficits in children compared to individual measures of maternal self-reported alcohol consumption or a previous maternal substance abuse index. Assessing fetal risk drinking in pregnant women was improved by including multiple indicators of both alcohol consumption and alcohol-related consequences and, if appropriate practical applications are devised, may facilitate intervention by health care workers during pregnancy and potentially reduce the incidence or severity of FASDs. [source] | |||||||||||||||||||||||||||||||