Sample records for early infantile autism

  1. Early Infantile Autism and Autistic Psychopathy

    ERIC Educational Resources Information Center

    Van Krevelen, D. Arn

    1971-01-01

    The paper tries to assign to autistic psychopathy a definite place in psychiatric nosology and to delineate sharply the differences between the essential characteristics of it and of early infantile autism. (Author)

  2. A Formula for Early Infantile Autism.

    ERIC Educational Resources Information Center

    Roy, M. Aaron

    Offered is an explanation for the development of early infantile autism as defined by L. Kanner which incorporates the behavior of the child, the behavior of the parent, and a critical time period of development. Writings of Kanner on the characteristics of autistic children, parental characteristics, and etiology are reviewed. The formula…

  3. Neonatal jaundice: a risk factor for infantile autism?

    PubMed

    Maimburg, Rikke Damkjaer; Vaeth, Michael; Schendel, Diana Elizabeth; Bech, Bodil Hammer; Olsen, Jørn; Thorsen, Poul

    2008-11-01

    In a previous study, we found that infants transferred to a neonatal ward after delivery had an almost twofold increased risk of being diagnosed with infantile autism later in childhood in spite of extensive controlling of obstetric risk factors. We therefore decided to investigate other reasons for transfer to a neonatal ward, in particular hyperbilirubinaemia and neurological abnormalities. We conducted a population-based matched case-control study of 473 children with autism and 473 matched controls born from 1990 to 1999 in Denmark. Cases were children reported with a diagnosis of infantile autism in the Danish Psychiatric Central Register. Conditional logistic regression was used to calculate odds ratios (OR) and 95% confidence intervals [CI] and likelihood ratio tests were used to test for effect modification. We found an almost fourfold risk for infantile autism in infants who had hyperbilirubinaemia after birth (OR 3.7 [95% CI 1.3, 10.5]). In stratified analysis, the association appeared limited to term infants (>or=37 weeks gestation). A strong association was also observed between abnormal neurological signs after birth and infantile autism, especially hypertonicity (OR 6.7 [95% CI 1.5, 29.7]). No associations were found between infantile autism and low Apgar scores, acidosis or hypoglycaemia. Our findings suggest that hyperbilirubinaemia and neurological abnormalities in the neonatal period are important factors to consider when studying causes of infantile autism.

  4. Histidinemia and Infantile Autism

    ERIC Educational Resources Information Center

    Kotsopoulos, S.; Kutty, K. M.

    1979-01-01

    The article presents a case history of a boy with both infantile autism and histidenia (an inborn error of amino acid metabolism), and discusses the possible relationship between the two conditions. (DLS)

  5. CSF B-Endorphin Levels in Patients with Infantile Autism.

    ERIC Educational Resources Information Center

    Nagamitsu, Shinichiro; And Others

    1997-01-01

    A Japanese study measured CSF (cerebrospinal fluid) levels of beta-endorphin in 19 children (ages 4-6) with infantile autism and in 3 children (ages 10-14) with Rett syndrome. In infantile autism, levels did not differ significantly from control participants (n=23). However, levels were significantly higher in those with Rett syndrome. (Author/CR)

  6. Infantile autism in children of immigrant parents. A population-based study from Göteborg, Sweden.

    PubMed

    Gillberg, C; Steffenburg, S; Börjesson, B; Andersson, L

    1987-06-01

    A population-based study of infantile autism from western Sweden has been completed. Urban children with autism more often than age-matched children in the general population had immigrant parents from 'exotic' countries. No such trend was seen in rural children with infantile autism.

  7. [Infantile autism and mirror neurons].

    PubMed

    Cornelio-Nieto, J O

    2009-02-27

    Infantile autism is a disorder that is characterised by alterations affecting reciprocal social interactions, abnormal verbal and non-verbal communication, poor imaginative activity and a restricted repertoire of activities and interests. The causes of autism remain unknown, but there are a number of different approaches that attempt to explain the neurobiological causes of the syndrome. A recent theory that has been considered is that of a dysfunction in the mirror neuron system (MNS). The MNS is a neuronal complex, originally described in monkeys and also found in humans, that is related with our movements and which offers specific responses to the movements and intended movements of other subjects. This system is believed to underlie processes of imitation and our capacity to learn by imitation. It is also thought to play a role in language acquisition, in expressing the emotions, in understanding what is happening to others and in empathy. Because these functions are altered in children with autism, it has been suggested that there is some dysfunction present in the MNS of those with autism. Dysfunction of the MNS could account for the symptoms that are observed in children with autism.

  8. The Organic Etiology of Infantile Autism: Myth or Fact?

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The author reviews theories and research on the etiology of infantile autism, specifically regarding its organic basis. He cites controversies over its organic vs. environmental basis and over the family's impact on autism. Quotes from such theoriests as L. Kanner, B. Bettleheim, and B. Rimland are presented along with E. R. Ritvo and M. Coleman.…

  9. [Neuroanatomical, genetic and neurochemical aspects of infantile autism].

    PubMed

    Gerhant, Aneta; Olajossy, Marcin; Olajossy-Hilkesberger, Luiza

    2013-01-01

    Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.

  10. Genetics Home Reference: early infantile epileptic encephalopathy 1

    MedlinePlus

    ... infantile epileptic encephalopathy 1 Early infantile epileptic encephalopathy 1 Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Early infantile epileptic encephalopathy 1 (EIEE1) is ...

  11. [The maternal effect in infantile autism: elevated DNA damage degree in patients and their mothers].

    PubMed

    Porokhovnik, L N; Kostyuk, S V; Ershova, E S; Stukalov, S M; Veiko, N N; Korovina, N Yu; Gorbachevskaya, N L; Sorokin, A B; Lyapunova, N A

    2016-05-01

    Infantile autism is a common disorder of mental development, which is characterized by impairments in the communicative, cognitive and speech spheres and obsessional stereotyped behaviour. Although in most cases, pathogenic factors remain unclear, infantile autism has a significant hereditary component, however, its etiology is also under the influence of environmental factors, including the condition of the mother's body during pregnancy ("maternal effect"). Oxidative stress is assumed to play a key role in the pathogenesis of infantile autism. It is known that oxidative stress has a prominent genotoxic effect, which is realized through inducing single and double strand breaks of the nuclear DNA. We evaluated the degree of DNA damage in patients with infantile autism and their mothers using DNA comet assay. The comet tail moment and DNA per cent ratio in the tail were assessed for each individual. The two parameters appeared to be strongly correlated (r=0.90). Mean and median values of both parameters were considerably higher in the sample of autistic children, than in age-matching healthy controls. Interestingly, these parameters were also elevated in healthy mothers of autistic children, with no difference from the values in the group of autistic children. The control group of healthy women of reproductive age, who had no children with autism, differed by the DNA comet tail moment from the group of mothers of autistic children, but did not differ significantly from the control group of healthy children. The results suggest that there are genotoxic factors in mentally healthy mothers of autistic children, which can determine the pathological process in the foeti via environmental "maternal effect" during gestation.

  12. The Empty Fortress; Infantile Autism and the Birth of the Self.

    ERIC Educational Resources Information Center

    Bettelheim, Bruno

    The nature, origin, and treatment of infantile autism are explored with a consideration of the child's world of encounter and case histories. The beginning of life, called the region of shadows, is mentioned; and the world of the newborn, body language, mutuality, autonomy, the autistic anlage, and the right side of time are examined for the…

  13. Cultural Changes and Psychopathology in Children: With Special Reference to Infantile Autism. Draft.

    ERIC Educational Resources Information Center

    Sanua, Victor D.

    The paper analyzes research regarding the effects of sociocultural factors and the incidence of mental illness, particularly infantile autism and childhood schizophrenia. Among those topics reviewed are general sociocultural changes and vital statistics, perceptual and cognitive potential of the neonate, the importance of family networks for…

  14. Infantile zinc deficiency: Association with autism spectrum disorders

    PubMed Central

    Yasuda, Hiroshi; Yoshida, Kazuya; Yasuda, Yuichi; Tsutsui, Toyoharu

    2011-01-01

    Elucidation of the pathogenesis and effective treatment of autism spectrum disorders is one of the challenges today. In this study, we examine hair zinc concentrations for 1,967 children with autistic disorders (1,553 males and 414 females), and show considerable association with zinc deficiency. Histogram of hair zinc concentration was non-symmetric with tailing in lower range, and 584 subjects were found to have lower zinc concentrations than −2 standard deviation level of its reference range (86.3–193ppm). The incidence rate of zinc deficiency in infant group aged 0–3 year-old was estimated 43.5 % in male and 52.5 % in female. The lowest zinc concentration of 10.7 ppm was detected in a 2-year-old boy, corresponding to about 1/12 of the control mean level. These findings suggest that infantile zinc deficiency may epigenetically contribute to the pathogenesis of autism and nutritional approach may yield a novel hope for its treatment and prevention. PMID:22355646

  15. Autism after infection, febrile episodes, and antibiotic use during pregnancy: an exploratory study.

    PubMed

    Atladóttir, Hjördis Ósk; Henriksen, Tine Brink; Schendel, Diana E; Parner, Erik T

    2012-12-01

    Results of animal studies suggest that maternal immune activation during pregnancy causes deficiencies in fetal neurodevelopment. Infectious disease is the most common path to maternal immune activation during pregnancy. The goal of this study was to determine the occurrence of common infections, febrile episodes, and use of antibiotics reported by the mother during pregnancy and the risk for autism spectrum disorder (ASD) and infantile autism in the offspring. We used a population-based cohort consisting of 96 736 children aged 8 to 14 years and born from 1997 to 2003 in Denmark. Information on infection, febrile episodes, and use of antibiotics was self-reported through telephone interviews during pregnancy and early postpartum. Diagnoses of ASD and infantile autism were retrieved from the Danish Psychiatric Central Register; 976 children (1%) from the cohort were diagnosed with ASD. Overall, we found little evidence that various types of mild common infectious diseases or febrile episodes during pregnancy were associated with ASD/infantile autism. However, our data suggest that maternal influenza infection was associated with a twofold increased risk of infantile autism, prolonged episodes of fever caused a threefold increased risk of infantile autism, and use of various antibiotics during pregnancy were potential risk factors for ASD/infantile autism. Our results do not suggest that mild infections, febrile episodes, or use of antibiotics during pregnancy are strong risk factors for ASD/infantile autism. The results may be due to multiple testing; the few positive findings are potential chance findings.

  16. Infantile Autism. A Clinical and Phenomenological-Anthropological Investigation Taking Language as the Guide.

    ERIC Educational Resources Information Center

    Bosch, Gerhard

    A clinical and phenomenological-anthropological investigation taking language as the guide, the study of infantile autism concentrates upon an analysis of the idiosyncratic language of autistic children and of what is revealed by the way they use it. Following the presentation of very detailed case histories of five of the autistic children…

  17. Autoimmune Diseases in Parents of Children with Infantile Autism: A Case--Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jorgen

    2007-01-01

    This register study compared the rates and types of autoimmune disease in the parents of 111 patients (82 males, 29 females; mean age at diagnosis 5y 5mo [SD 2y 6mo]) with infantile autism (IA) with a matched control group of parents of 330 children from the general population. All parents were screened through the nationwide Danish National…

  18. Autism in a Child with Congenital Cytomegalovirus Infection.

    ERIC Educational Resources Information Center

    Markowitz, Phillip I.

    1983-01-01

    A case study is described in which early infantile autism was diagnosed in a child with congenital cytomegalovirus (CMU) infection. It is suggested that congenital infection should be considered as an etiological agent in autism. The case's synergistic effect of CMU-induced brain damage, deafness, and maternal deprivation in noted. (CL)

  19. The role of oxidative stress, inflammation and acetaminophen exposure from birth to early childhood in the induction of autism

    PubMed Central

    Hornik, Chi Dang; Bilbo, Staci; Holzknecht, Zoie E.; Gentry, Lauren; Rao, Rasika; Lin, Shu S.; Herbert, Martha R.; Nevison, Cynthia D.

    2017-01-01

    The wide range of factors associated with the induction of autism is invariably linked with either inflammation or oxidative stress, and sometimes both. The use of acetaminophen in babies and young children may be much more strongly associated with autism than its use during pregnancy, perhaps because of well-known deficiencies in the metabolic breakdown of pharmaceuticals during early development. Thus, one explanation for the increased prevalence of autism is that increased exposure to acetaminophen, exacerbated by inflammation and oxidative stress, is neurotoxic in babies and small children. This view mandates extreme urgency in probing the long-term effects of acetaminophen use in babies and the possibility that many cases of infantile autism may actually be induced by acetaminophen exposure shortly after birth. PMID:28415925

  20. The role of oxidative stress, inflammation and acetaminophen exposure from birth to early childhood in the induction of autism.

    PubMed

    Parker, William; Hornik, Chi Dang; Bilbo, Staci; Holzknecht, Zoie E; Gentry, Lauren; Rao, Rasika; Lin, Shu S; Herbert, Martha R; Nevison, Cynthia D

    2017-04-01

    The wide range of factors associated with the induction of autism is invariably linked with either inflammation or oxidative stress, and sometimes both. The use of acetaminophen in babies and young children may be much more strongly associated with autism than its use during pregnancy, perhaps because of well-known deficiencies in the metabolic breakdown of pharmaceuticals during early development. Thus, one explanation for the increased prevalence of autism is that increased exposure to acetaminophen, exacerbated by inflammation and oxidative stress, is neurotoxic in babies and small children. This view mandates extreme urgency in probing the long-term effects of acetaminophen use in babies and the possibility that many cases of infantile autism may actually be induced by acetaminophen exposure shortly after birth.

  1. Hypothesis: is infantile autism a hypoglutamatergic disorder? Relevance of glutamate - serotonin interactions for pharmacotherapy.

    PubMed

    Carlsson, M L

    1998-01-01

    Based on 1) neuroanatomical and neuroimaging studies indicating aberrations in brain regions that are rich in glutamate neurons and 2) similarities between symptoms produced by N-methyl-D-aspartate (NMDA) antagonists in healthy subjects and those seen in autism, it is proposed in the present paper that infantile autism is a hypoglutamatergic disorder. Possible future pharmacological interventions in autism are discussed in the light of the intimate interplay between central glutamate and serotonin, notably the serotonin (5-HT) 2A receptor. The possible benefit of treatment with glutamate agonists [e.g. agents acting on the modulatory glycine site of the NMDA receptor, or so-called ampakines acting on the alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor] is discussed, as well as the potential usefulness of a selective 5-HT2A receptor antagonist.

  2. The yield of laboratory investigations in children with infantile autism.

    PubMed

    Kosinovsky, B; Hermon, S; Yoran-Hegesh, R; Golomb, A; Senecky, Y; Goez, H; Kramer, U

    2005-04-01

    To evaluate the yield of laboratory investigations in infantile autism. We retrieved and evaluated the results of investigative procedures recorded in the medical files of autistic infants in four child developmental centers and two pediatric psychiatric outpatient clinics. One-hundred and thirty-two infants were included in the study of whom 47 (36%) underwent autistic regression at an average age of 20 months. The investigative procedures included electroencephalogram (n = 132), neuroimaging (n = 70), genetic studies to detect Fragile-X (n = 59) and a metabolic workup (n = 53). Except for the molecular diagnosis that revealed Fragile-X syndrome in two children (3%), all other tests were negative. The two infants with the Fragile-X syndrome belonged to the non-regressive group. The only investigative study that contributed to the diagnosis of autistic infants was the molecular diagnosis detecting Fragile-X. In spite of the high frequency of epilepsy and epileptiform abnormalities in the electroencephalograms of autistic children in general, the contribution of epilepsy, both clinical and subclinical, to the etiology of autism is apparently minimal.

  3. Epilepsy and Other Neurological Diseases in the Parents of Children with Infantile Autism. A Case Control Study

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2008-01-01

    In order to study the broader phenotype of infantile autism (IA) we compared the rates and types of epilepsy and other neurological diseases in the parents of 111 consecutively admitted patients with IA with a matched control group of parents of 330 children from the general population. All participants were screened through the nationwide Danish…

  4. Attitudes of the autism community to early autism research.

    PubMed

    Fletcher-Watson, Sue; Apicella, Fabio; Auyeung, Bonnie; Beranova, Stepanka; Bonnet-Brilhault, Frederique; Canal-Bedia, Ricardo; Charman, Tony; Chericoni, Natasha; Conceição, Inês C; Davies, Kim; Farroni, Teresa; Gomot, Marie; Jones, Emily; Kaale, Anett; Kapica, Katarzyna; Kawa, Rafal; Kylliäinen, Anneli; Larsen, Kenneth; Lefort-Besnard, Jeremy; Malvy, Joelle; Manso de Dios, Sara; Markovska-Simoska, Silvana; Millo, Inbal; Miranda, Natercia; Pasco, Greg; Pisula, Ewa; Raleva, Marija; Rogé, Bernadette; Salomone, Erica; Schjolberg, Synnve; Tomalski, Przemysław; Vicente, Astrid M; Yirmiya, Nurit

    2017-01-01

    Investigation into the earliest signs of autism in infants has become a significant sub-field of autism research. This work invokes specific ethical concerns such as use of 'at-risk' language, communicating study findings to parents and the future perspective of enrolled infants when they reach adulthood. This study aimed to ground this research field in an understanding of the perspectives of members of the autism community. Following focus groups to identify topics, an online survey was distributed to autistic adults, parents of children with autism and practitioners in health and education settings across 11 European countries. Survey respondents (n = 2317) were positively disposed towards early autism research, and there was significant overlap in their priorities for the field and preferred language to describe infant research participants. However, there were also differences including overall less favourable endorsement of early autism research by autistic adults relative to other groups and a dislike of the phrase 'at-risk' to describe infant participants, in all groups except healthcare practitioners. The findings overall indicate that the autism community in Europe is supportive of early autism research. Researchers should endeavour to maintain this by continuing to take community perspectives into account. © The Author(s) 2016.

  5. Similarities and differences between infantile and early childhood onset vanishing white matter disease.

    PubMed

    Zhou, Ling; Zhang, Haihua; Chen, Na; Zhang, Zhongbin; Liu, Ming; Dai, Lifang; Wang, Jingmin; Jiang, Yuwu; Wu, Ye

    2018-06-01

    Vanishing white matter disease (VWM) is one of the most prevalent inherited leukoencephalopathies in childhood. Infantile VWM is more severe but less understood than the classic early childhood type. We performed a follow-up study on 14 infantile and 26 childhood patients to delineate the natural history and neuroimaging features of VWM. Infantile and childhood patients shared similarities in the incidence of epileptic seizure (35.7 vs. 38.5%) and episodic aggravation (92.9 vs. 84.6%). Developmental delay before disease onset was more common in infantile patients. Motor disability was earlier and more severe in infantile VWM. In survivors with disease durations of 1-3 years, the Gross Motor Function Classification System (GMFCS) was classified as IV-V in 66.7% of infantile and only 29.4% of childhood patients. Kaplan-Meier survival curve analysis indicated that the 5-year survival rates were 21.6 and 91.3% in infantile and childhood VWM, respectively. In terms of MRI, infantile patients showed more extensive involvement and earlier rarefaction, with more common involvement of subcortical white matter, internal capsule, brain stem and dentate nuclei of the cerebellum. Restricted diffusion was more diffuse or extensive in infantile patients. In addition, four novel mutations were identified. In conclusion, we identified some similarities and differences in the natural history and neuroimaging features between infantile and early childhood VWM.

  6. Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development

    DTIC Science & Technology

    2009-10-01

    developmental delay (DD) with diagnosis of autism ; 50 children with DD without autism ; 50 age-matched control children (months 1 - 2 ) We have...identified 30 children with sudden onset regression, 20 children with infantile autism , and 50 control children. Figure 1 and 2 present our data to date...toward lower GSH/GSSG and higher oxidized GSSG levels in children with regressive compared to early onset autism . Figure 1 Figure 2 GSH

  7. Autism and Autoimmune Disease: A Family Study

    ERIC Educational Resources Information Center

    Money, John; And Others

    1971-01-01

    Described in a family in which the youngest boy has early infantile autism, Addison's disease, and moniliasis and two older boys have autoimmune disease with hypoparathyroidism, Addison's disease, moniliasis, and either alopecia totalis or diabetes mellitus, while the oldest boy and parents are symptom free. (KW)

  8. [Autism and Early Neurodevelopmental Milestones].

    PubMed

    Ferreira, Xavier; Oliveira, Guiomar

    2016-03-01

    Autism spectrum disorder, also referred to in this study as autism, is a neurodevelopmental chronic disease that manifests early in childhood by impairment in social interaction, communication and repetitive behavior. Since there are no specific biomarkers available, the diagnosis is based exclusively on clinical criteria. The purpose of the present study is to determine which are the early psychomotor development or neurodevelopmental milestones that present a significant correlation with the severity of the main symptoms of autism, development quotients, and adaptive function. We performed a retrospective study on a sample of 1572 individuals with a diagnosis of autism that were monitored at Hospital Pediátrico do Centro Hospitalar e Universitário de Coimbra, in the Neurodevelopment and Autism Unit. We analyzed six early psychomotor developmental milestones: age of acquisition of 'walking', 'first words', 'first phrases', 'daytime control of bladder sphincter', 'night-time control of bladder sphincter', and age of first complaints. Afterwards, we divided the sample in three subgroups regarding clinical severity, according to the Childhood Autism Rating Scale, and we analyzed significant differences among each other concerning the six milestones established beforehand. The milestone 'age of first phrases' was, from the six milestones, the one with a stronger correlation with the variables of clinical manifestations of autism, development/intelligence quotients, and adaptive function. In division of the sample into subgroups of clinical severity, it was the most severe that showed later ages of acquisition of the neurodevelopmental milestones and earlier ages of first complaints. This study proves the clinical utility to know the age of achievement of early psychomotor developmental skills, since they act as predictors of clinical severity of autism, cognition, and adaptive function of a wide population with autism. Therefore, this data contribute for prognostic

  9. [Early diagnosis of autism: Phenotype-endophenotype].

    PubMed

    Kotsopoulos, S

    2015-01-01

    Autism Spectrum Disorders have for some time been the focus of intense interest for clinicians and researchers because of the high prevalence of the disorders among children in the community (approximately 1%), their severity and pervasiveness. Particular attention has been paid to the early diagnosis of the disorder and to the intensive therapeutic intervention. Currently the best prognosis for autism lays in the early diagnosis and intervention. Postponing the diagnosis and the intervention beyond infancy is considered loss of precious time. The diagnosis of autism, which begins early in life, was until recently considered that could be reliability made at the age of 3 years. Recent follow up studies however on children at risk for autism (children who had an older sibling with autism) have shown that the clinical signs of autism emerge at the end of the first year and become distinct by the end of the second year when the diagnosis can reliably be made. From a clinical perspective it is noted that the early clinical signs of risk for autism are related to social communication (e.g. limited or absent response when calling his/her name and to joint attention), stereotype behaviours and body movements or unusual handling of objects (e.g. intensive observation of objects and stereotype movements of hands and tapping or spinning), incongruent regulation of emotions (reduced positive and increased negative emotion). There is also delay in developmental characteristics such as the language (both receptive and expressive) and motor (particularly in postural control - characteristic is the drop of the head backwards when the infant is held in horizontal position). Studies on various aspects of the endophenotype of certain clinical signs among infants at risk for Autism Spectrum Disorders, such as avoidance of eye contact, delay in verbal communication and increase of the head circumference, may provide useful information and may assist the clinician on follow up in the

  10. Behavioural and skill-based early interventions in children with autism spectrum disorders.

    PubMed

    Weinmann, Stefan; Schwarzbach, Christoph; Begemann, Matthias; Roll, Stephanie; Vauth, Christoph; Willich, Stefan N; Greiner, Wolfgang

    2009-07-29

    Autism spectrum disorders (ASD) comprise typical or infantile autism (Kanner syndrome), Asperger's disorder and atypical autism or pervasive developmental disorder - not otherwise specified. The syndrome is characterized by deficits in (1) verbal and nonverbal communication, (2) reciprocal social interaction and (3) repetitive patterns of behaviour, interests and activities. Early behavioural interventions are based on learning theory and behaviour therapy. They take into account specific deficits in perception, emotional reactions, social interaction and communication. In Germany, these comprehensive models are not widely evaluated and implemented. What are the clinical effectiveness and safety of early behavioural or skills-based early interventions in autism compared to other interventions or to treatment as usual?What are specific factors responsible for the effectiveness?What are the cost-effectiveness and cost consequences of different early interventions in autism?Which legal, social and ethical aspects are relevant with regard to the implementation of the respective interventions in persons with autism? Following a systematic review of the literature, controlled studies on early behavioural or skills-based interventions published since 2000 in English or German with children until the age of twelve are included and critically appraised. Studies must have at least ten participants per intervention group. In total, 15 publications based on 14 studies, eight systematic reviews and one health economic study are included. Most studies evaluate early interventions based upon the Lovaas model (Early intensive behavioural treatment (EIBT), Applied behavioural analysis (ABA)). Other evaluate pragmatic interventions or interventions based on other theoretical models like specific parent interventions, responsive education and prelinguistic milieu teaching, joint attention, symbolic play, and picture exchange communication system. Behaviour analytic interventions

  11. Behavioural and skill-based early interventions in children with autism spectrum disorders

    PubMed Central

    Weinmann, Stefan; Schwarzbach, Christoph; Begemann, Matthias; Roll, Stephanie; Vauth, Christoph; Willich, Stefan N.; Greiner, Wolfgang

    2009-01-01

    Introduction Autism spectrum disorders (ASD) comprise typical or infantile autism (Kanner syndrome), Asperger’s disorder and atypical autism or pervasive developmental disorder - not otherwise specified. The syndrome is characterized by deficits in (1) verbal and nonverbal communication, (2) reciprocal social interaction and (3) repetitive patterns of behaviour, interests and activities. Early behavioural interventions are based on learning theory and behaviour therapy. They take into account specific deficits in perception, emotional reactions, social interaction and communication. In Germany, these comprehensive models are not widely evaluated and implemented. Research questions What are the clinical effectiveness and safety of early behavioural or skills-based early interventions in autism compared to other interventions or to treatment as usual? What are specific factors responsible for the effectiveness? What are the cost-effectiveness and cost consequences of different early interventions in autism? Which legal, social and ethical aspects are relevant with regard to the implementation of the respective interventions in persons with autism? Methods Following a systematic review of the literature, controlled studies on early behavioural or skills-based interventions published since 2000 in English or German with children until the age of twelve are included and critically appraised. Studies must have at least ten participants per intervention group. Results In total, 15 publications based on 14 studies, eight systematic reviews and one health economic study are included. Most studies evaluate early interventions based upon the Lovaas model (Early intensive behavioural treatment (EIBT), Applied behavioural analysis (ABA)). Other evaluate pragmatic interventions or interventions based on other theoretical models like specific parent interventions, responsive education and prelinguistic milieu teaching, joint attention, symbolic play, and picture exchange

  12. Fractures in Individuals with and without a History of Infantile Autism. A Danish Register Study Based on Hospital Discharge Diagnoses

    ERIC Educational Resources Information Center

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

    2012-01-01

    We compared the prevalence and types of fractures in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with 336 matched controls from the general population. All participants were screened through the nationwide Danish National Hospital Register. The average observation time was 30.3 years (range 27.3-30.4…

  13. Cognitive Development in Infantile-Onset Pompe Disease Under Very Early Enzyme Replacement Therapy.

    PubMed

    Lai, Chih-Jou; Hsu, Ting-Rong; Yang, Chia-Feng; Chen, Shyi-Jou; Chuang, Ya-Chin; Niu, Dau-Ming

    2016-12-01

    Most patients with infantile-onset Pompe disease die in early infancy before beginning enzyme replacement therapy, which has made it difficult to evaluate the impact of Pompe disease on cognitive development. Patients with infantile-onset Pompe disease can survive with enzyme replacement therapy, and physicians can evaluate cognitive development in these patients. We established an effective newborn screening program with quick clinical diagnostic criteria. Cognitive and motor development were evaluated using the Bayley Scales of Infant and Toddler Development-Third Edition at 6, 12, and 24 months of age. The patients who were treated very early demonstrate normal cognitive development with no significant change in cognition during this period (P = .18 > .05). The cognitive development was positively correlated with motor development (r = 0.533, P = .011). The results indicated that very early enzyme replacement therapy could protect cognitive development in patients with infantile-onset Pompe disease up to 24 months of age. © The Author(s) 2016.

  14. Is Infantile Colic an Early Life Expression of Childhood Migraine?

    PubMed Central

    TABRIZI, Manijeh; BADELI, Hamidreza; HASSANZADEH RAD, Afagh; AMINZADEH, Vahid; SHOKUHIFARD, Ali

    2017-01-01

    Objective Migraine is the mosyndrome and infantile colic is a common cause of infantile cry. The pathogenesis of migraine and colic has not been well established and different factors may cause them. There is an association between infantile colic and the occurrence of childhood migraine. We aimed to assess whether infantile colic could be noted as an early life expression of childhood migraine or not. Materials & Methods This retrospective case-control study was conducted on 5-15-year-old childrenin Rasht, Iran during 2015-2016. Forty-one cases were children with migraine with or without aura. Overall, 123 Control participants were children with the same age referred to the pediatric clinic for routine care. Data were gathered by a checklist including age, sex, birth weight, family history of migraine, the occurrence of colic and type of feeding during infancy. Data were reported by descriptive statistics and analyzed by Fisher exact test using SPSS ver. 19 Results Overall, 164 children with the mean age of 8.36± 2.53 yr were enrolled. Seventeen (41.46%) children with migraine vs. 44 (35.7%) children in control group had the positive history of infantile colic and Fisher exact test noted significant relation between migraine and colic. Thirty-three children with infantile colic (46.57%) had the positive family history of migraine, which was significantly higher than 27 children without colic (29.7%). There was a significant relation between infantile feeding and migraine. Conclusion There is a probable relation between colic and migraine, therefore, migraine and colic as 2 pain syndromes may have a common pathophysiology and further investigations on this common pathophysiology is justified. PMID:28883875

  15. Kinetics of 3H-serotonin uptake by platelets in infantile autism and developmental language disorder (including five pairs of twins)

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Katsui, T.; Okuda, M.; Usuda, S.

    The kinetics of 5-HT uptake by platelets was studied in cases of infantile autism and developmental language disorder (DLD) and normal subjects. Two patients of the autism group were twins, and the seven patients of the DLD group were members of four pairs of twins. The Vmax values (means +/- SD) for autism and DLD were 6.46 +/- .90 pmol 5-HT/10(7) cells/min and 4.85 +/- 1.50 pmol 5-HT/10(7) cells/min, respectively. These values were both significantly higher than that of 2.25 +/- .97 pmole 5-HT/10(7) cells/min for normal children. The Km values of the three groups were not significantly different. Datamore » on the five pairs of twins examined suggested that the elevated Vmax of 5-HT uptake by platelets was determined genetically.« less

  16. [Therapeutic intervention in infantile autism and generalized developmental disorders: self-injury and self-stimulation].

    PubMed

    Rodríguez-Abellán, J

    1999-02-01

    In this article we present a review of the aetiology and treatment of self-injury and self-stimulation in infantile autism and in generalized development disorders. We summarize 20 years of study and investigation in the treatment of these serious behaviour disorders, in a pioneer institution in Spain: the centre for rehabilitation 'El Cau' in Castellon. We describe the most frequent behaviour disorders, with particular reference to self-injury and self-stimulatory behaviour. Models explaining the aetiology and treatment are described in a brief general review of the subject, and we consider explicative models which integrate different treatments (in family and institutional contexts) by means of family therapy, psychoeducational models and social support networks.

  17. Identifying autism early: The Toddlers at Risk of Autism Clinic model.

    PubMed

    Davis, Tessa; Clifton, Deirdre; Papadopoulos, Con

    2015-07-01

    This paper describes the Toddlers at Risk of Autism Clinic (TRAC), which utilises the Social Attention and Communication Study (SACS) and/or Autism Detection in Early Childhood (ADEC) play-based assessments to facilitate the early diagnosis of autism. A retrospective audit was conducted of all 42 children assessed over a 3-year period in the TRAC. A semi-structured interview and play-based assessment (SACS and ADEC) were used to aid experienced clinicians in diagnosing autism. Intervention was recommended, and families were routinely followed up. Analysis was conducted on the tools used, the outcomes of assessment, diagnosis and stability of diagnosis on follow-up. During this period, 35 boys and 7 girls were assessed, with a mean age of 25 months. The average waiting time for clinic was 11.6 weeks. Twenty-five patients were diagnosed with autism; 90.5% of toddlers given an initial diagnosis retained that diagnosis at follow-up. Out of the 17 children who were not diagnosed with autism in the TRAC, one child was later diagnosed with autism. Experienced clinicians can use the SACS and/or ADEC to assist with a Diagnostic and Statistical Manual diagnosis of autism in toddlers. © 2015 The Authors. Journal of Paediatrics and Child Health © 2015 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  18. Young Children with Autism or Autistic-Like Behavior.

    ERIC Educational Resources Information Center

    Coleman, Mary

    1989-01-01

    This paper on autism in young children discusses the differences between classic infantile autism and autistic-like conditions; the evolving manifestations of autism; accompanying handicaps such as mental retardation, epilepsy, blindness, and deafness; possible infectious or metabolic disease etiologies; and treatment through behavior…

  19. History of music therapy treatment interventions for children with autism.

    PubMed

    Reschke-Hernández, Alaine E

    2011-01-01

    The purpose of this paper is to provide a systematic review of the history of music therapy research and treatment of children with autism. Understanding such history is important in order to improve clinical efficacy and inform future research. This paper includes a history of autism diagnosis, reviews strengths and limitations of music therapy practice with children with autism from 1940-2009, and suggests direction for future music therapy research and clinical practice with this population. Literature was limited to the English language and obtained with the following search terms: autism, autistic, (early) infantile autism, child, therapeutic music, musical therapy, and music therapy. Table of contents from music therapy journals were searched, and reference lists from obtained articles were perused for additional articles. This historical review focused primarily on journal articles, however, books and book chapters that appeared to hold particular historical significance were also included.

  20. Using the Autism Detection in Early Childhood (ADEC) and Childhood Autism Rating Scales (CARS) to Predict Long Term Outcomes in Children with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Nah, Yong-Hwee; Young, Robyn L.; Brewer, Neil

    2014-01-01

    This study evaluated the predictive validity of the Autism Detection in Early Childhood (ADEC; Young, Autism detection in early childhood: ADEC. Australian Council of Educational Research, Camberwell, VIC 2007) and a well-established screening tool, the Childhood Autism Rating Scale (CARS; Schopler et al. The childhood autism rating scale (CARS).…

  1. Early Identification of Autism

    PubMed Central

    Webb, Sara Jane; Jones, Emily J.H.

    2016-01-01

    In the first year of life, infants who later go on to develop autistic spectrum disorders (ASD) may exhibit subtle disruptions in social interest and attention, communication, temperament, and head circumference growth that occur prior to the onset of clinical symptoms. These disruptions may reflect the early course of ASD development and may also contribute to the later development of clinical symptoms through alterations in the child’s experience of his or her environment. By age 2, developmental precursors of autism symptoms can be used to diagnose children reliably, and by age 3, the diagnosis is thought to be relatively stable. The downward extension of the autism diagnosis poses important questions for therapists in designing interventions that are applicable for infants who demonstrate early risk factors. We review current knowledge of the early signs of ASD in the infancy period (0–12 months) and the manifestation of symptoms in toddlerhood (12– 36 months), noting the importance of considering the variability in onset and trajectory of ASD. Finally, we consider the implications of this emerging research for those who work or interact with young children, including the importance of early monitoring and the development and evaluation of age-appropriate interventions. PMID:28090148

  2. [Genetic and neuroendocrine aspects in autism spectrum disorder].

    PubMed

    Oviedo, Norma; Manuel-Apolinar, Leticia; de la Chesnaye, Elsa; Guerra-Araiza, Christian

    The autism spectrum disorder (ASD) was described in 1943 and is defined as a developmental disorder that affects social interaction and communication. It is usually identified in early stages of development from 18 months of age. Currently, autism is considered a neurological disorder with a spectrum covering cases of different degrees, which is associated with genetic factors, not genetic and environmental. Among the genetic factors, various syndromes have been described that are associated with this disorder. Also, the neurobiology of autism has been studied at the genetic, neurophysiological, neurochemical and neuropathological levels. Neuroimaging techniques have shown multiple structural abnormalities in these patients. There have also been changes in the serotonergic, GABAergic, catecholaminergic and cholinergic systems related to this disorder. This paper presents an update of the information presented in the genetic and neuroendocrine aspects of autism spectrum disorder. Copyright © 2014 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  3. Early Communication Development and Intervention for Children with Autism

    ERIC Educational Resources Information Center

    Landa, Rebecca

    2007-01-01

    Autism is a neurodevelopmental disorder defined by impairments in social and communication development, accompanied by stereotyped patterns of behavior and interest. The focus of this paper is on the early development of communication in autism, and early intervention for impairments in communication associated with this disorder. An overview of…

  4. Molecular analysis and test of linkage between the FMR-I gene and infantile autism in multiplex families

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Hallmayer, J.; Pintado, E.; Lotspeich, L.

    Approximately 2%-5% of autistic children show cytogenetic evidence of the fragile X syndrome. This report tests whether infantile autism in multiplex autism families arises from an unusual manifestion of the fragile X syndrome. This could arise either by expansion of the (CGG)n trinucleotide repeat in FMR-1 or from a mutation elsewhere in the gene. We studied 35 families that met stringent criteria for multiplex autism. Amplification of the trinucleotide repeat and analysis of methylation status were performed in 79 autistic children and in 31 of their unaffected siblings by Southern blot analysis. No examples of amplified repeats were seen inmore » the autistic or control children or in their parents or grandparents. We next examined the hypothesis that there was a mutation elsewhere in the FMR-1 gene, by linkage analysis in 32 of these families. We tested four different dominant models and a recessive model. Linkage to FMR-1 could be excluded (lod score between -24 and -62) in all models by using probes DXS548, FRAXAC1, and FRAXAC2 and the CGG repeat itself. Tests for heterogeneity in this sample were negative, and the occurrence of positive lod scores in this data set could be attributed to chance. Analysis of the data by the affected-sib method also did not show evidence for linkage of any marker to autism. These results enable us to reject the hypothesis that multiplex autism arises from expansion of the (CGG)n trinucleotide repeat in FMR-1. Further, because the overall lod scores for all probes in all models tested were highly negative, linkage to FMR-1 can also be ruled out in multiplex autistic families. 35 refs., 2 figs., 5 tabs.« less

  5. Screening for autism spectrum disorder in underserved communities: Early childcare providers as reporters.

    PubMed

    Janvier, Yvette M; Harris, Jill F; Coffield, Caroline N; Louis, Barbara; Xie, Ming; Cidav, Zuleyha; Mandell, David S

    2016-04-01

    Early diagnosis of autism typically is associated with earlier access to intervention and improved outcomes. Daycares and preschools largely have been ignored as possible venues for early identification. This may be especially important for minority children in the United States who are typically diagnosed with autism later than White children, limiting their access to early specialized interventions and possibly resulting in poorer outcomes. Early childcare providers within underserved communities completed autism screening tools for a sample of low-risk young children (n = 967) in their programs. Early childcare providers returned screening tools for 90% of the children for whom parental consent had been received. A total of 14% of children screened positive for autism spectrum disorder and 3% of the sample met criteria for autism spectrum disorder. Among those who screened positive, 34% were lost to follow-up. Findings suggest that early childcare providers can effectively screen young children for autism spectrum disorder in preschool/daycare settings, thus improving access to early diagnosis and reducing potential healthcare disparities among underserved populations. © The Author(s) 2015.

  6. Maternal use of acetaminophen during pregnancy and risk of autism spectrum disorders in childhood: A Danish national birth cohort study.

    PubMed

    Liew, Zeyan; Ritz, Beate; Virk, Jasveer; Olsen, Jørn

    2016-09-01

    Acetaminophen (paracetamol) is the most commonly used pain and fever medication during pregnancy. Previously, a positive ecological correlation between acetaminophen use and autism spectrum disorders (ASD) has been reported but evidence from larger studies based on prospective data is lacking. We followed 64,322 children and mothers enrolled in the Danish National Birth Cohort (DNBC; 1996-2002) for average 12.7 years to investigate whether acetaminophen use in pregnancy is associated with increased risk of ASD in the offspring. Information on acetaminophen use was collected prospectively from three computer-assisted telephone interviews. We used records from the Danish hospital and psychiatric registries to identify diagnoses of ASD. At the end of follow up, 1,027 (1.6%) children were diagnosed with ASD, 345 (0.5%) with infantile autism. We found that 31% of ASD (26% of infantile autism) have also been diagnosed with hyperkinetic disorders. More than 50% women reported ever using acetaminophen in pregnancy. We used Cox proportional hazards model to estimate hazard ratio (HR) and 95% confident interval (CI). Prenatal use of acetaminophen was associated with an increased risk of ASD accompanied by hyperkinetic symptoms (HR = 1.51 95% CI 1.19-1.92), but not with other ASD cases (HR = 1.06 95% CI 0.92-1.24). Longer duration of use (i.e., use for >20 weeks in gestation) increased the risk of ASD or infantile autism with hyperkinetic symptoms almost twofold. Maternal use of acetaminophen in pregnancy was associated with ASD with hyperkinetic symptoms only, suggesting acetaminophen exposure early in fetal life may specifically impact this hyperactive behavioral phenotype. Autism Res 2016, 9: 951-958. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  7. Early diagnosis of autism and impact on prognosis: a narrative review

    PubMed Central

    Fernell, Elisabeth; Eriksson, Mats Anders; Gillberg, Christopher

    2013-01-01

    Autism spectrum disorders involve a set of clinical phenotypes that mirror an early onset of neurodevelopmental deviations, with core symptoms that can probably be related to a deficiency in the social instinct. Underlying the cognitive impairments there are physiological brain problems, caused by a large number of medical factors. This narrative review of systematic reviews and meta-analyses from the last 5 years (2008–2012) presents aspects from many areas in autism spectrum disorder research, with a particular focus on early intervention and the subsequent impact on prognosis. Other major areas discussed are epidemiology, early symptoms and screening, early diagnosis, neuropsychology, medical factors, and the existence of comorbidities. There is limited evidence that any of the broadband “early intervention” programs are effective in changing the natural long-term outcome for many individuals with an early diagnosis of autism. However, there is some evidence that Early Intensive Behavioral Intervention (EIBI) is an effective treatment for some children with ASD. Nevertheless, there is emerging consensus that early diagnosis and information are needed in order that an autism-friendly environment be “created” around affected individuals. PMID:23459124

  8. [Autism: An early neurodevelopmental disorder].

    PubMed

    Bonnet-Brilhault, F

    2017-04-01

    With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i.e., socio-emotional, language, sensori-motor, executive functioning). These disorders are expressed early in life with an age of onset around 18 months. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. The clinical picture is characterized by impairments in social interaction and communication and the presence of restrictive and repetitive behaviors (DSM-5, ICD-10). However, in addition to these two main dimensions there is significant comorbidity between ASD and other neurodevelopmental disorders such as attention deficit hyperactivity disorder or with genetic and medical conditions. One of the diagnostic features of ASD is its early emergence: symptoms must begin in early childhood for a diagnosis to be given. Due to brain plasticity, early interventions are essential to facilitate clinical improvement. Therefore, general practitioners and pediatricians are on the front line to detect early signs of ASD and to guide both medical explorations and early rehabilitation. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  9. Evidence-Based Comprehensive Treatments for Early Autism

    PubMed Central

    Rogers, Sally J.; Vismara, Laurie A.

    2010-01-01

    Early intervention for children with autism is currently a politically and scientifically complex topic. Randomized controlled trials have demonstrated positive effects in both short-term and longer term studies. The evidence suggests that early intervention programs are indeed beneficial for children with autism, often improving developmental functioning and decreasing maladaptive behaviors and symptom severity at the level of group analysis. Whether such changes lead to significant improvements in terms of greater independence and vocational and social functioning in adulthood is also unknown. Given the few randomized controlled treatment trials that have been carried out, the few models that have been tested, and the large differences in interventions that are being published, it is clear that the field is still very early in the process of determining (a) what kinds of interventions are most efficacious in early autism, (b) what variables moderate and mediate treatment gains and improved outcomes following intervention, and (c) the degree of both short-term and long-term improvements that can reasonably be expected. To examine these current research needs, the empirical studies of comprehensive treatments for young children with autism published since 1998 were reviewed. Lovaas's treatment meet Chambless and colleague's (Chambless et al., 1998; Chambless et al., 1996) criteria for “well-established” and no treatment meets the “probably efficacious” criteria, though three treatments meet criteria for “possibly efficacious” (Chambless & Hollon, 1998). Most studies were either Type 2 or 3 in terms of their methodological rigor based on Nathan and Gorman's (2002) criteria. Implications of these findings are also discussed in relation to practice guidelines as well as critical areas of research that have yet to be answered PMID:18444052

  10. Deferred and immediate imitation in regressive and early onset autism

    PubMed Central

    Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

    2010-01-01

    Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language, and symbolic play. However, few studies have examined deferred imitation in early autism. The present study examined both deferred, spontaneous imitation and immediate, elicited imitation on a set of carefully matched tasks in 36 young children with autism: 16 with early onset autism, 20 with regressive autism and two contrast groups, younger typically developing children (n = 20) and age matched children with significant developmental delays (n = 21). Analyses of co-variance controlling for differences in verbal mental age revealed significant main effects for task, but no main effect of group and no interaction of task by group. Deferred imitation scores were lower than immediate imitation scores for all groups. Imitation performance was related to overall intellectual functioning for all groups, and there were moderate and significant relations between imitation in the immediate elicited condition and in the spontaneous deferred condition for all groups. Finally, there were no differences between onset subgroups in imitation scores, suggesting that the two share a similar phenotype involving both types of imitation. PMID:18221343

  11. Early Indicators of Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Muratori, Filippo

    2008-01-01

    In the absence of a neurological or genetic marker to aid in the early diagnosis of autism, clinicians can use infant behaviors and parental responses during the child's first year of life to determine the child's risk of an autistic disorder. The author presents 12 questions for clinicians to ask parents about their child's early development. An…

  12. What Neuroscience Has Taught Us about Autism: Implications for Early Intervention

    ERIC Educational Resources Information Center

    Williams, Diane L.

    2008-01-01

    Investigation of the brain and brain function in living children and adults with autism has led to new information on the neurobiology of autism. Autism is characterized by early brain overgrowth and alterations in gray and white matter. Functional imaging studies suggest that individuals with autism have reduced synchronization between key brain…

  13. Early autism symptoms in infants with tuberous sclerosis complex.

    PubMed

    McDonald, Nicole M; Varcin, Kandice J; Bhatt, Rujuta; Wu, Joyce Y; Sahin, Mustafa; Nelson, Charles A; Jeste, Shafali S

    2017-12-01

    Tuberous sclerosis complex (TSC) is a rare, autosomal dominant genetic syndrome that confers significantly increased risk for autism spectrum disorder (ASD), with 50-60% of infants with TSC meeting criteria for ASD by 3 years of age. In a previous study of the current longitudinal cohort, we found that infants with TSC who develop ASD (TSC/ASD) evidence decreased cognitive abilities that diverge from infants with TSC and no ASD (TSC/no ASD). We extended this work by asking whether TSC/ASD infants (n = 13) differed from TSC/no ASD infants (n = 10) and infants with low developmental risk and no ASD (LR; n = 21) in their social communication functioning during the first year of life. We measured early ASD symptoms with the Autism Observation Scale for Infants (AOSI) at 9 and 12 months of age. At both ages, infants in the TSC/ASD group had significantly higher AOSI total scores than infants in the TSC/no ASD and LR groups, which were not fully explained by differences in cognitive abilities. Several items on the AOSI at both ages were predictive of ASD outcome, particularly those representing core social communication deficits (e.g., social referencing). Our findings signal the need for further study of this population within the first year and provide strong justification for early identification and early intervention targeting social communication skills in infants with TSC. Autism Res 2017, 10: 1981-1990. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. We examined early signs of autism spectrum disorder (ASD) in infants with tuberous sclerosis complex (TSC), approximately 50% of whom will meet criteria for ASD by age 3. Infants with TSC and ASD showed deficits in social communication behaviors by 9 months of age that were clearly distinguishable from behaviors in infants with TSC who do not develop ASD and low risk infants. Results support the importance of early ASD screening and intervention for infants with TSC. © 2017

  14. Gross Motor Development, Movement Abnormalities, and Early Identification of Autism

    PubMed Central

    Young, Gregory S.; Goldring, Stacy; Greiss-Hess, Laura; Herrera, Adriana M.; Steele, Joel; Macari, Suzanne; Hepburn, Susan; Rogers, Sally J.

    2015-01-01

    Gross motor development (supine, prone, rolling, sitting, crawling, walking) and movement abnormalities were examined in the home videos of infants later diagnosed with autism (regression and no regression subgroups), developmental delays (DD), or typical development. Group differences in maturity were found for walking, prone, and supine, with the DD and Autism-No Regression groups both showing later developing motor maturity than typical children. The only statistically significant differences in movement abnormalities were in the DD group; the two autism groups did not differ from the typical group in rates of movement abnormalities or lack of protective responses. These findings do not replicate previous investigations suggesting that early motor abnormalities seen on home video can assist in early identification of autism. PMID:17805956

  15. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

    PubMed Central

    Archer, H L; Evans, J; Edwards, S; Colley, J; Newbury‐Ecob, R; O'Callaghan, F; Huyton, M; O'Regan, M; Tolmie, J; Sampson, J; Clarke, A; Osborne, J

    2006-01-01

    Objective To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. Methods Two groups of patients were investigated for CDKL5 mutations. Group 1 comprised 73 patients (57 female, 16 male) referred to Cardiff for CDKL5 analysis, of whom 49 (42 female, 7 male) had epileptic seizure onset in the first six months of life. Group 2 comprised 26 patients (11 female, 15 male) with infantile spasms previously recruited to a clinical trial, the UK Infantile Spasms Study. Where a likely pathogenic mutation was identified, further clinical data were reviewed. Results Seven likely pathogenic mutations were found among female patients from group 1 with epileptic seizure onset in the first six months of life, accounting for seven of the 42 in this group (17%). No mutations other than the already published mutation were found in female patients from group 2, or in any male patient from either study group. All patients with mutations had early signs of developmental delay and most had made little developmental progress. Further clinical information was available for six patients: autistic features and tactile hypersensitivity were common but only one had suggestive Rett‐like features. All had a severe epileptic seizure disorder, all but one of whom had myoclonic jerks. The EEG showed focal or generalised changes and in those with infantile spasms, hypsarrhythmia. Slow frequencies were seen frequently with a frontal or fronto‐temporal predominance and high amplitudes. Conclusions The spectrum of the epileptic seizure disorder, and associated EEG changes, in those with CDKL5 mutations is broader than previously reported. CDKL5 mutations are a significant cause of infantile spasms and early epileptic seizures in female patients, and of a later intractable seizure disorder

  16. Early Childhood Predictors of the Social Competence of Adults with Autism

    ERIC Educational Resources Information Center

    Gillespie-Lynch, Kristen; Sepeta, Leigh; Wang, Yueyan; Marshall, Stephanie; Gomez, Lovella; Sigman, Marian; Hutman, Ted

    2012-01-01

    Longitudinal research into adult outcomes in autism remains limited. Unlike previous longitudinal examinations of adult outcome in autism, the twenty participants in this study were evaluated across multiple assessments between early childhood (M = 3.9 years) and adulthood (M = 26.6 years). In early childhood, responsiveness to joint attention…

  17. Infantile spasms.

    PubMed

    Hrachovy, Richard A; Frost, James D

    2013-01-01

    Infantile spasms are a unique disorder of infancy and early childhood. The average age at onset of infantile spasms is 6 months and the average incidence of the disorder is approximately 0.31 per 1000 live births. Approximately one-quarter of patients will spontaneously stop having spasms within 1 year of onset. There are three main types of epileptic spasms: flexor, extensor, and mixed flexor-extensor. Spasms frequently occur in clusters and commonly occur upon arousal from sleep. The motor spasms are frequently confused with other normal and abnormal infant behaviors. Typically, the interictal EEG reveals hypsarrhythmia or one of its variants. A variety of ictal EEG patterns may be seen, the most common of which is a generalized slow-wave transient followed by an attenuation of the background activity in all regions. The primary treatment objective is to improve the EEG and stop the spasms as soon as possible and to avoid prolonged treatment durations with any form of therapy. Currently, there is no conclusive evidence that medical or surgical treatment of infantile spasms significantly alters long-term outcome. Although the pathophysiological mechanism underlying infantile spasms is unknown, several animal models of infantile spasms have been developed in recent years. Copyright © 2013 Elsevier B.V. All rights reserved.

  18. Randomized Controlled Trial for Early Intervention for Autism: A Pilot Study of the Autism 1-2-3 Project

    ERIC Educational Resources Information Center

    Wong, Virginia C. N.; Kwan, Queenie K.

    2010-01-01

    We piloted a 2-week "Autism-1-2-3" early intervention for children with autism and their parents immediately after diagnosis that targeted at (1) eye contact, (2) gesture and (3) vocalization/words. Seventeen children were randomized into the Intervention (n = 9) and Control (n = 8) groups. Outcome measures included the Autism Diagnostic…

  19. Elicited Imitation: A Vehicle for Assessing the Language Functioning Level of Echolalic Autistic Children. Final Report 53.8.

    ERIC Educational Resources Information Center

    Fritsch, Gudrun

    The booklet discusses and reports on a study of elicited imitation as a vehicle for assessing the language-functioning level of echolalic autistic children. An historical overview is presented of the diagnosis of early infantile autism. The question of whether or not early infantile autism is a distinct syndrome is addressed. The theoretical and…

  20. Does theory of mind performance differ in children with early-onset and regressive autism?

    PubMed

    Matthews, Nicole L; Goldberg, Wendy A; Lukowski, Angela F; Osann, Kathryn; Abdullah, Maryam M; Ly, Agnes R; Thorsen, Kara; Spence, M Anne

    2012-01-01

    A deficit in theory of mind (ToM), or the ability to infer the mental states of others, has been implicated as one of the major characteristics of Autism Spectrum Disorder (ASD); however, little attention has been devoted to possible differences in ToM ability within ASD. The current study examined ToM performance in children with early-onset autism and regressive autism in comparison to typically developing children. Results indicated that children in the regressive autism group performed significantly better than the early-onset autism group on the non-verbal appearance-reality task. Additionally, Fisher's exact tests indicated a pattern of lowest scores in the early-onset group and highest scores in the typically developing group, whereas the regressive autism group tended to score in between the early-onset and typically developing groups. The apparent heterogeneity in ToM performance within ASD could account for the lack of universality in ToM ability found in previous studies. © 2011 Blackwell Publishing Ltd.

  1. Stability of Early Risk Assessment for Autism Spectrum Disorder in Preterm Infants

    ERIC Educational Resources Information Center

    Yaari, Maya; Yitzhak, Neta; Harel, Ayelet; Friedlander, Edwa; Bar-Oz, Benjamin; Eventov-Friedman, Smadar; Mankuta, David; Gamliel, Ifat; Yirmiya, Nurit

    2016-01-01

    Stability and change in early autism spectrum disorder risk were examined in a cohort of 99 preterm infants (?34 weeks of gestation) using the Autism Observation Scale for Infants at 8 and 12 months and the Autism Diagnostic Observation Schedule--Toddler Module at 18 months. A total of 21 infants were identified at risk by the Autism Observation…

  2. Brief Report: An Evaluation of an Australian Autism-Specific, Early Intervention Programme

    ERIC Educational Resources Information Center

    Paynter, Jessica M.; Riley, Emma P.; Beamish, Wendi; Scott, James G.; Heussler, Helen S.

    2015-01-01

    There is a relative paucity of evidence examining the effectiveness of early intervention for young children with Autism Spectrum Disorder, in particular those delivered through educationally-based programmes. This study aimed to evaluate the real world effectiveness of a community-based autism-specific early learning and intervention programme in…

  3. A Community-Based Early Intervention Program for Toddlers with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Rollins, Pamela Rosenthal; Campbell, Michelle; Hoffman, Renee Thibodeau; Self, Kayli

    2016-01-01

    This study examined Pathways Early Autism Intervention, a community-based, parent-mediated, intensive behavioral and developmental intervention program for children with autism spectrum disorders that could be used as a model for state-funded early intervention programs. A single-subject, multiple-baseline, across-participants design was used.…

  4. The motivation for very early intervention for infants at high risk for autism spectrum disorders.

    PubMed

    Webb, Sara Jane; Jones, Emily J H; Kelly, Jean; Dawson, Geraldine

    2014-02-01

    The first Autism Research Matrix (IACC, 2003) listed the identification of behavioural and biological markers of risk for autism as a top priority. This emphasis was based on the hypothesis that intervention with infants at-risk, at an early age when the brain is developing and before core autism symptoms have emerged, could significantly alter the developmental trajectory of children at risk for the disorder and impact long-range outcome. Research has provided support for specific models of early autism intervention (e.g., Early Start Denver Model) for improving outcomes in young children with autism, based on both behavioural and brain activity measures. Although great strides have been made in ability to identify risk markers for autism in younger infant/toddler samples, how and when to intervene during the prodromal state remains a critical question. Emerging evidence suggests that abnormal brain circuitry in autism precedes altered social behaviours; thus, an intervention designed to promote early social engagement and reciprocity potentially could steer brain development back toward the normal trajectory and remit or reduce the expression of symptoms.

  5. Some Thoughts on the Evolving Arena of Autism Services

    ERIC Educational Resources Information Center

    Dunlap, Glen

    2007-01-01

    It has been a mere four decades since autism emerged from the pernicious cul-de-sac of psychoanalytic conceptualization into the realm of constructive, systematic research, and real-life problem solving. It was in the 1960s that (1) Bernard Rimland (1964) published his ground-breaking book, "Infantile Autism"; (2) the National Society of Autistic…

  6. The importance of context in early autism intervention: A qualitative South African study.

    PubMed

    Guler, Jessy; de Vries, Petrus J; Seris, Noleen; Shabalala, Nokuthula; Franz, Lauren

    2017-09-01

    The majority of individuals with autism spectrum disorder live in low- and middle-income countries and receive little or no services from health or social care systems. The development and validation of autism spectrum disorder interventions has almost exclusively occurred in high-income countries, leaving many unanswered questions regarding what contextual factors would need to be considered to ensure the effectiveness of interventions in low- and middle-income countries. This study qualitatively explored contextual factors relevant to the adaptation of a caregiver-mediated early autism spectrum disorder intervention in a low-resource South African setting. We conducted four focus groups and four in-depth interviews with 28 caregivers of young children with autism spectrum disorder and used thematic analysis to identify key themes. Eight contextual factors including culture, language, location of treatment, cost of treatment, type of service provider, support, parenting practices, and stigma emerged as important. Caregivers reported a preference for an affordable, in-home, individualized early autism spectrum disorder intervention, where they have an active voice in shaping treatment goals. Distrust of community-based health workers and challenges associated with autism spectrum disorder-related stigma were identified. Recommendations that integrate caregiver preferences with the development of a low-cost and scalable caregiver-mediated early autism spectrum disorder intervention are included.

  7. Screening for Autism Spectrum Disorder in Underserved Communities: Early Childcare Providers as Reporters

    ERIC Educational Resources Information Center

    Janvier, Yvette M.; Harris, Jill F.; Coffield, Caroline N.; Louis, Barbara; Xie, Ming; Cidav, Zuleyha; Mandell, David S.

    2016-01-01

    Early diagnosis of autism typically is associated with earlier access to intervention and improved outcomes. Daycares and preschools largely have been ignored as possible venues for early identification. This may be especially important for minority children in the United States who are typically diagnosed with autism later than White children,…

  8. Brain Development in Autism: Early Overgrowth Followed by Premature Arrest of Growth

    ERIC Educational Resources Information Center

    Courchesne, Eric

    2004-01-01

    Due to the relatively late age of clinical diagnosis of autism, the early brain pathology of children with autism has remained largely unstudied. The increased use of retrospective measures such as head circumference, along with a surge of MRI studies of toddlers with autism, have opened a whole new area of research and discovery. Recent studies…

  9. Trajectories of Early Brain Volume Development in Fragile X Syndrome and Autism

    ERIC Educational Resources Information Center

    Hazlett, Heather Cody; Poe, Michele D.; Lightbody, Amy A.; Styner, Martin; MacFall, James R.; Reiss, Allan L.; Piven, Joseph

    2012-01-01

    Objective: To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared with a comparison group (controls) and a group with idiopathic autism. Method: The study included 53 boys 18 to 42 months of age with FXS, 68 boys with idiopathic autism (autism spectrum disorder), and a comparison group of 50 typically…

  10. Early Intervention for Children with Autism Spectrum Disorders in China: A Family Perspective

    ERIC Educational Resources Information Center

    Su, Xueyun; Long, Toby; Chen, Lianjun; Fang, Junming

    2013-01-01

    Autism spectrum disorders (ASD) were first reported in China in 1982. Since then, autism and other related disorders have been recognized by both the public and professionals. The importance of early intervention for children with ASD is becoming more accepted throughout China. A survey was designed to investigate the status of early intervention…

  11. Part Two: Infantile Spasms--The New Consensus

    ERIC Educational Resources Information Center

    Pellock, John M.; O'Hara, Kathryn

    2011-01-01

    This article presents the conclusion made by the consensus group regarding infantile spasms. The consensus group concluded that "infantile spasms are a major form of severe epileptic encephalopathy of early childhood that results in neurodevelopmental regression and imposes a significant health burden." The entire group agrees that the best…

  12. Early Generalized Overgrowth in Boys With Autism

    PubMed Central

    Chawarska, Katarzyna; Campbell, Daniel; Chen, Lisha; Shic, Frederick; Klin, Ami; Chang, Joseph

    2016-01-01

    Context Multiple studies have reported an overgrowth in head circumference (HC) in the first year of life in autism. However, it is unclear whether this phenomenon is independent of overall body growth and whether it is associated with specific social or cognitive features. Objectives To examine the trajectory of early HC growth in autism compared with control groups; to assess whether HC growth in autism is independent of height and weight growth during infancy; and to examine HC growth from birth to 24 months in relationship to social, verbal, cognitive, and adaptive functioning levels. Design Retrospective study. Setting A specialized university-based clinic. Participants Boys diagnosed as having autistic disorder (n=64), pervasive developmental disorder–not otherwise specified (n=34), global developmental delay (n=13), and other developmental problems (n=18) and typically developing boys (n=55). Main Outcome Measures Age-related changes in HC, height, and weight between birth and age 24 months; measures of social, verbal, and cognitive functioning at age 2 years. Results Compared with typically developing controls, boys with autism were significantly longer by age 4.8 months, had a larger HC by age 9.5 months, and weighed more by age 11.4 months (P=.05 for all). None of the other clinical groups showed a similar overgrowth pattern. Boys with autism who were in the top 10% of overall physical size in infancy exhibited greater severity of social deficits (P=.009) and lower adaptive functioning (P=.03). Conclusions Boys with autism experienced accelerated HC growth in the first year of life. However, this phenomenon reflected a generalized process affecting other morphologic features, including height and weight. The study highlights the importance of studying factors that influence not only neuronal development but also skeletal growth in autism. PMID:21969460

  13. Social attention: a possible early indicator of efficacy in autism clinical trials

    PubMed Central

    2012-01-01

    For decades, researchers have sought to clarify the nature of the social communication impairments in autism, highlighting impaired or atypical 'social attention' as a key measurable construct that helps to define the core impairment of social communication. In this paper, we provide an overview of research on social attention impairments in autism and their relation to deficiencies in neural circuitry related to social reward. We offer a framework for considering social attention as a potential moderator or mediator of response to early behavioral intervention, and as an early indicator of efficacy of behavioral and/or pharmacological treatments aimed at addressing the social impairments in autism. PMID:22958480

  14. Early Brain changes May Help Predict Autism Among High-Risk Infants

    MedlinePlus

    ... early as age 2 years, based on certain behaviors and communication difficulties. The study, funded by the NIH Autism Centers of Excellence Program , is published in the February 16, 2017, issue of Nature . Approximately 1 out of every 68 children in the United States has autism, according to ...

  15. [Infantile hemangiomas: the revolution of beta-blockers].

    PubMed

    Leaute-Labreze, Christine

    2014-12-01

    Infantile hemangioma is the consequence of both postnatal vasculogenesis and angiogenesis. Hypoxia appears to play an important role as a contributory factor. Infantile hemangiomas have variable clinical features: superficial, deep or mixed. They can be localized or segmental involving a large skin area. Localized infantile hemangiomas are usually benign, unless they are located near a noble structure (airway orbit...), while segmental infantile hemangioma may be associated with complex underlying birth defects (PHACES and SACRAL syndromes). Clinical follow-up of infants with infantile hemangioma must be particularly careful in the first weeks of life since 80% of all infantile hemangiomas have reached their final size at age 5 months. A majority of infantile hemangiomas are mild and do not required any treatment. Main indications for treatment are: vital risk (heart failure, respiratory distress), functional risk (amblyopia, swallowing disorders...), painful ulceration and disfigurement (face involvement of nose, lips...). Propranolol, has been quickly adopted as the first line medical treatment for complicated infantile hemangioma; and it is the only treatment to have a marketing authorization in this indication. It is recommended to begin the treatment as early as possible before three months of age to minimize the risk of complications and sequelae.

  16. Clinical Neurochemistry of Autism and Associated Disorders.

    ERIC Educational Resources Information Center

    Young, J. Gerald; And Others

    1982-01-01

    The fundamental preclinical and clinical studies of serotonin, dopamine, and norepinephrine metabolism related to infantile autism are reviewed, and new studies are suggested, as examples of the productive strategies that will illuminate features of the autistic syndrome in the next decade. (Author)

  17. Early diagnosis and Early Start Denver Model intervention in autism spectrum disorders delivered in an Italian Public Health System service.

    PubMed

    Devescovi, Raffaella; Monasta, Lorenzo; Mancini, Alice; Bin, Maura; Vellante, Valerio; Carrozzi, Marco; Colombi, Costanza

    2016-01-01

    Early diagnosis combined with an early intervention program, such as the Early Start Denver Model (ESDM), can positively influence the early natural history of autism spectrum disorders. This study evaluated the effectiveness of an early ESDM-inspired intervention, in a small group of toddlers, delivered at low intensity by the Italian Public Health System. Twenty-one toddlers at risk for autism spectrum disorders, aged 20-36 months, received 3 hours/wk of one-to-one ESDM-inspired intervention by trained therapists, combined with parents' and teachers' active engagement in ecological implementation of treatment. The mean duration of treatment was 15 months. Cognitive and communication skills, as well as severity of autism symptoms, were assessed by using standardized measures at pre-intervention (Time 0 [T0]; mean age =27 months) and post-intervention (Time 1 [T1]; mean age =42 months). Children made statistically significant improvements in the language and cognitive domains, as demonstrated by a series of nonparametric Wilcoxon tests for paired data. Regarding severity of autism symptoms, younger age at diagnosis was positively associated with greater improvement at post-assessment. Our results are consistent with the literature that underlines the importance of early diagnosis and early intervention, since prompt diagnosis can reduce the severity of autism symptoms and improve cognitive and language skills in younger children. Particularly in toddlers, it seems that an intervention model based on the ESDM principles, involving the active engagement of parents and nursery school teachers, may be effective even when the individual treatment is delivered at low intensity. Furthermore, our study supports the adaptation and the positive impact of the ESDM entirely sustained by the Italian Public Health System.

  18. Early identification of autism in fragile X syndrome: a review

    PubMed Central

    McCary, L. M.; Roberts, J. E.

    2014-01-01

    Fragile X syndrome (FXS) is the leading genetic cause of autism, accounting for approximately 5% of autism cases with as many as 50% of individuals with FXS meeting DSM-IV-TR criteria for autistic disorder. Both FXS and idiopathic autism (IA) are attributed to genetic causes; however, FXS is an identified single gene disorder whereas autism is a complex disorder with multiple potential causes, some of which have been identified. Studies in IA have focused on the prospective longitudinal examination of infant siblings of children with autism as a target group due to their high risk of developing the disorder. We propose that this same model be applied to the study of infants with FXS. There is a lack of research focusing on the early development of autism within FXS and debate in the literature regarding how to best conceptualise this co-morbidity or whether it should be considered a co-morbid condition at all. Studying the emergence and stability of autism in infants with FXS has multiple benefits such as clarifying the underlying mechanisms of the development of autism in FXS and solidifying similarities and differences between co-morbid FXS with autism and IA. Infant research in both IA and FXS are discussed as well as conclusions and implications for practice and future research. PMID:22974167

  19. Dimensional Structure of the Autism Phenotype: Relations between Early Development and Current Presentation

    ERIC Educational Resources Information Center

    Kamp-Becker, Inge; Ghahreman, Mardjan; Smidt, Judith; Remschmidt, Helmut

    2009-01-01

    The dimensional structure of higher functioning autism phenotype was investigated by factor analysis. The goal of this study was to identify the degree to which early symptoms of autism (measured using the ADI-R) could be predictive of the current symptoms of autism as identified using the ADOS, the adaptive behavior scales, IQ scores and theory…

  20. No evidence of early head circumference enlargements in children later diagnosed with autism in Israel.

    PubMed

    Dinstein, Ilan; Haar, Shlomi; Atsmon, Shir; Schtaerman, Hen

    2017-01-01

    Large controversy exists regarding the potential existence and clinical significance of larger brain volumes in toddlers who later develop autism. Assessing this relationship is important for determining the clinical utility of early head circumference (HC) measures and for assessing the validity of the early overgrowth hypothesis of autism, which suggests that early accelerated brain development may be a hallmark of the disorder. We performed a retrospective comparison of HC, height, and weight measurements between 66 toddlers who were later diagnosed with autism and 66 matched controls. These toddlers represent an unbiased regional sample from a single health service provider in the southern district of Israel. On average, participating toddlers had >8 measurements between birth and the age of two, which enabled us to characterize individual HC, height, and weight development with high precision and fit a negative exponential growth model to the data of each toddler with exceptional accuracy. The analyses revealed that HC sizes and growth rates were not significantly larger in toddlers with autism even when stratifying the autism group based on verbal capabilities at the time of diagnosis. In addition, there were no significant correlations between ADOS scores at the time of diagnosis and HC at any time-point during the first 2 years of life. These negative results add to accumulating evidence, which suggest that brain volume is not necessarily larger in toddlers who develop autism. We believe that conflicting results reported in other studies are due to small sample sizes, use of misleading population norms, changes in the clinical definition of autism over time, and/or inclusion of individuals with syndromic autism. While abnormally large brains may be evident in some individuals with autism and more clearly visible in MRI scans, converging evidence from this and other studies suggests that enlarged HC is not a common etiology of the entire autism population

  1. Deferred and Immediate Imitation in Regressive and Early Onset Autism

    ERIC Educational Resources Information Center

    Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

    2008-01-01

    Deferred imitation has long held a privileged position in early cognitive development, considered an early marker of representational thought with links to language development and symbolic processes. Children with autism have difficulties with several abilities generally thought to be related to deferred imitation: immediate imitation, language,…

  2. Early brain development in infants at high risk for autism spectrum disorder

    PubMed Central

    Hazlett, Heather Cody; Gu, Hongbin; Munsell, Brent C.; Kim, Sun Hyung; Styner, Martin; Wolff, Jason J.; Elison, Jed T.; Swanson, Meghan R.; Zhu, Hongtu; Botteron, Kelly N.; Collins, D. Louis; Constantino, John N.; Dager, Stephen R.; Estes, Annette M.; Evans, Alan C.; Fonov, Vladimir S.; Gerig, Guido; Kostopoulos, Penelope; McKinstry, Robert C.; Pandey, Juhi; Paterson, Sarah; Pruett, John R.; Schultz, Robert T.; Shaw, Dennis W.; Zwaigenbaum, Lonnie; Piven, Joseph

    2017-01-01

    Summary Brain enlargement has been observed in children with Autism Spectrum Disorder (ASD), but the timing of this phenomenon and its relationship to the appearance of behavioral symptoms is unknown. Retrospective head circumference and longitudinal brain volume studies of 2 year olds followed up at age 4 years, have provided evidence that increased brain volume may emerge early in development.1, 2 Studies of infants at high familial risk for autism can provide insight into the early development of autism and have found that characteristic social deficits in ASD emerge during the latter part of the first and in the second year of life3,4. These observations suggest that prospective brain imaging studies of infants at high familial risk for ASD might identify early post-natal changes in brain volume occurring before the emergence of an ASD diagnosis. In this prospective neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that cortical surface area hyper-expansion between 6-12 months of age precedes brain volume overgrowth observed between 12-24 months in the 15 high-risk infants diagnosed with autism at 24 months. Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. A deep learning algorithm primarily using surface area information from brain MRI at 6 and 12 months of age predicted the diagnosis of autism in individual high-risk children at 24 months (with a positive predictive value of 81%, sensitivity of 88%). These findings demonstrate that early brain changes unfold during the period in which autistic behaviors are first emerging. PMID:28202961

  3. Early brain development in infants at high risk for autism spectrum disorder.

    PubMed

    Hazlett, Heather Cody; Gu, Hongbin; Munsell, Brent C; Kim, Sun Hyung; Styner, Martin; Wolff, Jason J; Elison, Jed T; Swanson, Meghan R; Zhu, Hongtu; Botteron, Kelly N; Collins, D Louis; Constantino, John N; Dager, Stephen R; Estes, Annette M; Evans, Alan C; Fonov, Vladimir S; Gerig, Guido; Kostopoulos, Penelope; McKinstry, Robert C; Pandey, Juhi; Paterson, Sarah; Pruett, John R; Schultz, Robert T; Shaw, Dennis W; Zwaigenbaum, Lonnie; Piven, Joseph

    2017-02-15

    Brain enlargement has been observed in children with autism spectrum disorder (ASD), but the timing of this phenomenon, and the relationship between ASD and the appearance of behavioural symptoms, are unknown. Retrospective head circumference and longitudinal brain volume studies of two-year olds followed up at four years of age have provided evidence that increased brain volume may emerge early in development. Studies of infants at high familial risk of autism can provide insight into the early development of autism and have shown that characteristic social deficits in ASD emerge during the latter part of the first and in the second year of life. These observations suggest that prospective brain-imaging studies of infants at high familial risk of ASD might identify early postnatal changes in brain volume that occur before an ASD diagnosis. In this prospective neuroimaging study of 106 infants at high familial risk of ASD and 42 low-risk infants, we show that hyperexpansion of the cortical surface area between 6 and 12 months of age precedes brain volume overgrowth observed between 12 and 24 months in 15 high-risk infants who were diagnosed with autism at 24 months. Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. A deep-learning algorithm that primarily uses surface area information from magnetic resonance imaging of the brain of 6-12-month-old individuals predicted the diagnosis of autism in individual high-risk children at 24 months (with a positive predictive value of 81% and a sensitivity of 88%). These findings demonstrate that early brain changes occur during the period in which autistic behaviours are first emerging.

  4. Early Intervention Aquatics: A Program for Children with Autism and Their Families

    ERIC Educational Resources Information Center

    Prupas, Andrea; Harvey, William J.; Benjamin, Janet

    2006-01-01

    The article describes an early intervention approach to aquatics for preschool children with autism. The Aquatic Nursery program successfully taught both the children and their parents to become involved in swimming. Specific programming details are provided in relation to people with autism, and particular attention is paid to aquatic skill…

  5. Preference for Geometric Patterns Early in Life as a Risk Factor for Autism

    PubMed Central

    Pierce, Karen; Conant, David; Hazin, Roxana; Stoner, Richard; Desmond, Jamie

    2016-01-01

    Context Early identification efforts are essential for the early treatment of the symptoms of autism but can only occur if robust risk factors are found. Children with autism often engage in repetitive behaviors and anecdotally prefer to visually examine geometric repetition, such as the moving blade of a fan or the spinning of a car wheel. The extent to which a preference for looking at geometric repetition is an early risk factor for autism has yet to be examined. Objectives To determine if toddlers with an autism spectrum disorder (ASD) aged 14 to 42 months prefer to visually examine dynamic geometric images more than social images and to determine if visual fixation patterns can correctly classify a toddler as having an ASD. Design Toddlers were presented with a 1-minute movie depicting moving geometric patterns on 1 side of a video monitor and children in high action, such as dancing or doing yoga, on the other. Using this preferential looking paradigm, total fixation duration and the number of saccades within each movie type were examined using eye tracking technology. Setting University of California, San Diego Autism Center of Excellence. Participants One hundred ten toddlers participated in final analyses (37 with an ASD, 22 with developmental delay, and 51 typical developing toddlers). Main Outcome Measure Total fixation time within the geometric patterns or social images and the number of saccades were compared between diagnostic groups. Results Overall, toddlers with an ASD as young as 14 months spent significantly more time fixating on dynamic geometric images than other diagnostic groups. If a toddler spent more than 69% of his or her time fixating on geometric patterns, then the positive predictive value for accurately classifying that toddler as having an ASD was 100%. Conclusion A preference for geometric patterns early in life may be a novel and easily detectable early signature of infants and toddlers at risk for autism. PMID:20819977

  6. Online Survey Examining Practitioners’ Perceived Preparedness in the Early Identification of Autism

    PubMed Central

    Pizur-Barnekow, Kris A.; Schefkind, Sandra

    2014-01-01

    The purpose of this study was to examine the perceived preparedness of practitioners in the early identification of children ages birth to 6 yr with autism spectrum disorder (ASD). Both occupational therapists and occupational therapy assistants were included in this survey study. The online survey instrument consisted of 29 questions within six sections capturing participant demographics, delivery of occupational therapy services, action when autism is suspected, service delivery experience, resource sharing, and barriers to conducting autism screening. The results of the study provide baseline information concerning identified skills, practices, and barriers among 1,396 practitioners. Additionally, opportunities are revealed for professional development necessary to support practitioners in the early identification of children at risk for ASD through surveillance and screening among children ages birth to 6 yr. PMID:24367965

  7. School Age Outcomes of Children with Autism Spectrum Disorder Who Received Community-Based Early Interventions

    ERIC Educational Resources Information Center

    Vinen, Zoe; Clark, Megan; Paynter, Jessica; Dissanayake, Cheryl

    2018-01-01

    This study followed children with Autism Spectrum Disorder (ASD) from early intervention into their early schooling years, when they were aged between 6 and 9 years, on autism symptom severity and cognitive functioning. The children, matched at pre-intervention, were compared on type of community provided service: 31 were in receipt of…

  8. Infantile Amnesia: A Critical Period of Learning to Learn and Remember

    PubMed Central

    Travaglia, Alessio

    2017-01-01

    Infantile amnesia, the inability of adults to recollect early episodic memories, is associated with the rapid forgetting that occurs in childhood. It has been suggested that infantile amnesia is due to the underdevelopment of the infant brain, which would preclude memory consolidation, or to deficits in memory retrieval. Although early memories are inaccessible to adults, early-life events, such as neglect or aversive experiences, can greatly impact adult behavior and may predispose individuals to various psychopathologies. It remains unclear how a brain that rapidly forgets, or is not yet able to form long-term memories, can exert such a long-lasting and important influence. Here, with a particular focus on the hippocampal memory system, we review the literature and discuss new evidence obtained in rats that illuminates the paradox of infantile amnesia. We propose that infantile amnesia reflects a developmental critical period during which the learning system is learning how to learn and remember. PMID:28615475

  9. No One Ever Asked Me That: Parent Experiences with Autism in Early Childhood Special Education

    ERIC Educational Resources Information Center

    Lajeunesse, Anne Ouwerkerk

    2017-01-01

    Early childhood is often a time when parents of children with autism begin to learn about their child's diagnosis and the world of special education, a time of uncertainty and emotion. This narrative inquiry sought to give voice to parents of children with autism who have navigated public early childhood special education. The results were…

  10. [Autism, epilepsy and tuberous sclerosis complex: a functional model linked to mTOR pathway].

    PubMed

    García-Peñas, Juan José; Carreras-Sááez, Inmaculada

    2013-02-22

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. Brain disorders are the origin of more frequent and severe problems and include infantile spasms, intractable epilepsy, brain tumors, cognitive disabilities, and autism. TSC1 or TSC2 encoded proteins modulate cell function via the mTOR signaling cascade and serve as keystones in regulating cell growth and proliferation. AIM. To review the etiopathogenic mechanisms and the natural course of the association of autism and epilepsy in TSC. Both the clinical and the neuroimaging findings of TSC, including early onset epilepsy and the localization of cortical tubers in the temporal lobes, and the molecular understanding of the mTOR signaling pathway, not only involved in cell growth, but also in synaptogenesis, synaptic plasticity and neuronal functioning, have suggested a multimodal origin of autism in these patients. A greater understanding of the pathogenetic mechanisms underlying autism in TSC could help in devising targeted and potentially more effective treatment strategies. Antagonism of the mTOR pathway with rapamycin and everolimus may provide new therapeutic options for these TSC patients.

  11. Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder.

    PubMed

    Shen, Mark D; Nordahl, Christine W; Young, Gregory S; Wootton-Gorges, Sandra L; Lee, Aaron; Liston, Sarah E; Harrington, Kayla R; Ozonoff, Sally; Amaral, David G

    2013-09-01

    Prospective studies of infants at risk for autism spectrum disorder have provided important clues about the early behavioural symptoms of autism spectrum disorder. Diagnosis of autism spectrum disorder, however, is not currently made until at least 18 months of age. There is substantially less research on potential brain-based differences in the period between 6 and 12 months of age. Our objective in the current study was to use magnetic resonance imaging to identify any consistently observable brain anomalies in 6-9 month old infants who would later develop autism spectrum disorder. We conducted a prospective infant sibling study with longitudinal magnetic resonance imaging scans at three time points (6-9, 12-15, and 18-24 months of age), in conjunction with intensive behavioural assessments. Fifty-five infants (33 'high-risk' infants having an older sibling with autism spectrum disorder and 22 'low-risk' infants having no relatives with autism spectrum disorder) were imaged at 6-9 months; 43 of these (27 high-risk and 16 low-risk) were imaged at 12-15 months; and 42 (26 high-risk and 16 low-risk) were imaged again at 18-24 months. Infants were classified as meeting criteria for autism spectrum disorder, other developmental delays, or typical development at 24 months or later (mean age at outcome: 32.5 months). Compared with the other two groups, infants who developed autism spectrum disorder (n = 10) had significantly greater extra-axial fluid at 6-9 months, which persisted and remained elevated at 12-15 and 18-24 months. Extra-axial fluid is characterized by excessive cerebrospinal fluid in the subarachnoid space, particularly over the frontal lobes. The amount of extra-axial fluid detected as early as 6 months was predictive of more severe autism spectrum disorder symptoms at the time of outcome. Infants who developed autism spectrum disorder also had significantly larger total cerebral volumes at both 12-15 and 18-24 months of age. This is the first magnetic

  12. School Age Outcomes of Children with Autism Spectrum Disorder Who Received Community-Based Early Interventions.

    PubMed

    Vinen, Zoe; Clark, Megan; Paynter, Jessica; Dissanayake, Cheryl

    2018-05-01

    This study followed children with Autism Spectrum Disorder (ASD) from early intervention into their early schooling years, when they were aged between 6 and 9 years, on autism symptom severity and cognitive functioning. The children, matched at pre-intervention, were compared on type of community provided service: 31 were in receipt of community-based group Early Start Denver Model and 28 had received other community provisions for ASD. Irrespective of groups, cognitive functioning was found to have significantly improved by school age compared to pre-intervention. Autism symptom severity increased during the same developmental period, seemingly driven by an increase in restricted and repetitive behaviours over time. In contrast, both groups displayed improved social affect by school age.

  13. Ontogeny of memory: An update on 40 years of work on infantile amnesia.

    PubMed

    Madsen, Heather Bronwyn; Kim, Jee Hyun

    2016-02-01

    Given the profound influence that early life experiences can have upon psychosocial functioning later in life, it is intriguing that most adults fail to recall autobiographical events from their early childhood years. Infantile amnesia is the term used to describe this phenomenon of accelerated forgetting during infancy, and it is not unique to humans. Over the years, information garnered from animal studies has provided clues as to the neurobiological basis of infantile amnesia. The purpose of this review is to provide a neurobiological update on what we now know about infantile amnesia since the publication of Campbell and Spear's seminal review on the topic more than 40 years ago. We present evidence that infantile amnesia is unlikely to be explained by a unitary theory, with the protracted development of multiple brain regions and neurotransmitter systems important for learning and memory likely to be involved. The recent discovery that exposure to early life stress can alleviate infantile amnesia offers a potential explanation as to how early adversity can so profoundly affect mental health in adulthood, and understanding the neurobiological basis for this early transition may lead to the development of effective therapeutic interventions. Copyright © 2015 Elsevier B.V. All rights reserved.

  14. Parental report of the early development of children with regressive autism: the delays-plus-regression phenotype.

    PubMed

    Ozonoff, Sally; Williams, Brenda J; Landa, Rebecca

    2005-12-01

    Most children with autism demonstrate developmental abnormalities in their first year, whereas others display regression after mostly normal development. Few studies have examined the early development of the latter group. This study developed a retrospective measure, the Early Development Questionnaire (EDQ), to collect specific, parent-reported information about development in the first 18 months. Based on their EDQ scores, 60 children with autism between the ages of 3 and 9 were divided into three groups: an early onset group (n = 29), a definite regression group (n = 23), and a heterogeneous mixed group (n = 8). Significant differences in early social development were found between the early onset and regression groups. However, over 50 percent of the children who experienced a regression demonstrated some early social deficits during the first year of life, long before regression and the apparent onset of autism. This group, tentatively labeled 'delays-plus-regression', deserves further study.

  15. Infantile Amnesia: Forgotten but Not Gone

    ERIC Educational Resources Information Center

    Li, Stella; Callaghan, Bridget L.; Richardson, Rick

    2014-01-01

    Unlike adult memories that can be remembered for many years, memories that are formed early in life are more fragile and susceptible to being forgotten (a phenomenon known as "infantile" or "childhood" amnesia). Nonetheless, decades of research in both humans and nonhuman animals demonstrate the importance of early life…

  16. Similar Developmental Trajectories in Autism and Asperger Syndrome: From Early Childhood to Adolescence

    ERIC Educational Resources Information Center

    Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H.

    2009-01-01

    Objective: The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Method: Sixty-four…

  17. Use of Early Intervention for Young Children with Autism Spectrum Disorder across Europe

    ERIC Educational Resources Information Center

    Salomone, Erica; Beranová, Štepánka; Bonnet-Brilhault, Frédérique; Briciet Lauritsen, Marlene; Budisteanu, Magdalena; Buitelaar, Jan; Canal-Bedia, Ricardo; Felhosi, Gabriella; Fletcher-Watson, Sue; Freitag, Christine; Fuentes, Joaquin; Gallagher, Louise; Garcia Primo, Patricia; Gliga, Fotinica; Gomot, Marie; Green, Jonathan; Heimann, Mikael; Jónsdóttir, Sigridur Loa; Kaale, Anett; Kawa, Rafal; Kylliainen, Anneli; Lemcke, Sanne; Markovska-Simoska, Silvana; Marschik, Peter B; McConachie, Helen; Moilanen, Irma; Muratori, Filippo; Narzisi, Antonio; Noterdaeme, Michele; Oliveira, Guiomar; Oosterling, Iris; Pijl, Mirjam; Pop-Jordanova, Nada; Poustka, Luise; Roeyers, Herbert; Rogé, Bernadette; Sinzig, Judith; Vicente, Astrid; Warreyn, Petra; Charman, Tony

    2016-01-01

    Little is known about use of early interventions for autism spectrum disorder in Europe. Parents of children with autism spectrum disorder aged 7?years or younger (N?=?1680) were recruited through parent organisations in 18 European countries and completed an online survey about the interventions their child received. There was considerable…

  18. Toward a conceptual framework for early brain and behavior development in autism

    PubMed Central

    Piven, J; Elison, J T; Zylka, M J

    2017-01-01

    Studies of infant siblings of older autistic probands, who are at elevated risk for autism, have demonstrated that the defining features of autism are not present in the first year of life but emerge late in the first and into the second year. A recent longitudinal neuroimaging study of high-risk siblings revealed a specific pattern of brain development in infants later diagnosed with autism, characterized by cortical surface area hyper-expansion in the first year followed by brain volume overgrowth in the second year that is associated with the emergence of autistic social deficits. Together with new observations from genetically defined autism risk alleles and rodent model, these findings suggest a conceptual framework for the early, post-natal development of autism. This framework postulates that an increase in the proliferation of neural progenitor cells and hyper-expansion of cortical surface area in the first year, occurring during a pre-symptomatic period characterized by disrupted sensorimotor and attentional experience, leads to altered experience-dependent neuronal development and decreased elimination of neuronal processes. This process is linked to brain volume overgrowth and disruption of the refinement of neural circuit connections and is associated with the emergence of autistic social deficits in the second year of life. A better understanding of the timing of developmental brain and behavior mechanisms in autism during infancy, a period which precedes the emergence of the defining features of this disorder, will likely have important implications for designing rational approaches to early intervention. PMID:28937691

  19. Early Memories of Individuals on the Autism Spectrum Assessed Using Online Self-Reports

    PubMed Central

    Zamoscik, Vera; Mier, Daniela; Schmidt, Stephanie N. L.; Kirsch, Peter

    2016-01-01

    “When I was one and a half years old, I was on a ferry lying on red seats” – while several autobiographical accounts by people with autism reveal vivid memories of early childhood, the vast amount of experimental investigations found deficits in personal autobiographic memory in autism. To assess this contradiction empirically, we implemented an online questionnaire on early childhood events to compare people on the autism spectrum (AS) and non-autistic people with respect to their earliest autobiographical episodic memories and the earliest semantic know event as told by another person. Results indicate that people on the AS do not differ from non-autistic people in the age of their earliest know events but remember events from an earlier age in childhood and with more sensory details, contradicting the assumption of an overall deficit in personal episodic memory in autism. Furthermore, our results emphasize the supporting influence of language for memory formation and give evidence for an important role of sensory features in memories of people on the AS. PMID:27199786

  20. Using Standardized Diagnostic Instruments to Classify Children with Autism in the Study to Explore Early Development

    ERIC Educational Resources Information Center

    Wiggins, Lisa D.; Reynolds, Ann; Rice, Catherine E.; Moody, Eric J.; Bernal, Pilar; Blaskey, Lisa; Rosenberg, Steven A.; Lee, Li-Ching; Levy, Susan E.

    2015-01-01

    The Study to Explore Early Development (SEED) is a multi-site case-control study designed to explore the relationship between autism spectrum disorder (ASD) phenotypes and etiologies. The goals of this paper are to (1) describe the SEED algorithm that uses the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule…

  1. School Age Outcomes of Children Diagnosed Early and Later with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Clark, Megan Louise Erin; Vinen, Zoe; Barbaro, Josephine; Dissanayake, Cheryl

    2018-01-01

    Early diagnosis of Autism Spectrum Disorder is considered best practice, increasing access to early intervention. Yet, many children are diagnosed after 3-years. The current study investigated the school age outcomes of children who received an early and later diagnosis of ASD. The cognitive and behavioural outcomes of children diagnosed early (n…

  2. Do Early Caregiver Concerns Differ for Girls with Autism Spectrum Disorders?

    ERIC Educational Resources Information Center

    Little, Lauren M.; Wallisch, Anna; Salley, Brenda; Jamison, Rene

    2017-01-01

    Given that early caregiver concerns may be different for children who go on to receive a diagnosis of autism spectrum disorder versus another developmental disability, early caregiver concerns may differ for girls. Using a community-based sample of children (n = 241), we examined the extent to which gender differences may be related to caregiver…

  3. The Real-World Effectiveness of Early Teaching Interventions for Children with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Reed, Phil; Osborne, Lisa A.; Corness, Mark

    2007-01-01

    The effectiveness of 3 early teaching interventions (applied behavior analysis [ABA], special nursery placement, and portage) for children with autism spectrum disorder was studied in a community-based sample over 10 months. Measures of autism severity as well as intellectual, educational, and adaptive behavioral function were administered. In…

  4. Very Early Signs of Autism Reported by Parents Include Many Concerns Not Specific to Autism Criteria

    ERIC Educational Resources Information Center

    Guinchat, Vincent; Chamak, Brigitte; Bonniau, Beatrice; Bodeau, Nicolas; Perisse, Didier; Cohen, David; Danion, Anne

    2012-01-01

    This study assessed parents' first concerns about their autistic child. This information was categorized so that it could help healthcare professionals improve early detection of autism. We designed a questionnaire using an open-ended format, and 459 questionnaires were completed by parents to assess difficulties encountered in obtaining a…

  5. Latent Class Analysis of Early Developmental Trajectory in Baby Siblings of Children with Autism

    ERIC Educational Resources Information Center

    Landa, Rebecca J.; Gross, Alden L.; Stuart, Elizabeth A.; Bauman, Margaret

    2012-01-01

    Background: Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Methods: Sibs-A (N = 204) were assessed…

  6. Perinatal complications associated with autism--a case control study in a neurodevelopment and early intervention clinic.

    PubMed

    Nath, Saswati; Roy, Rita; Mukherjee, Suchandra

    2012-08-01

    Early and intensive intervention can have a profound impact on the quality of life for children at risk for autism. Hence a high degree of suspicion towards babies exposed to known risk factors is warranted. Previous studies have shown that different perinatal factors like antepartum bleeding, postmaturity, birth asphyxia, meconium aspiration syndrome, anaemia in early infancy and exposure to toxins of various origins makes an infant susceptible to development of autism; attention deficit hyperactivity disorder (ADHD) and other neurodevelopmental disorders in later life.This study aims to find out the association of perinatal risk factors in relation to development of autism spectrum disorders. All babies who are at least three years of age, attending the neurodevelopment and early intervention clinic at SSKM Hospital at Kolkata taken as cases. Age matched controls were taken from general paediatric OPD of the same hospital. After history taking, physical and neurological examination, developmental maturity was assessed by the Denver Developmental Screening Test (DDST) and Vineland Social Maturity Scale (VSMS). A semi-structured parent's questionnaire and the modified checklist for autism in toddlers (M-CHAT) was used to screen for autism. Diagnosis was confirmed by DSM-IV-TR (Diagnostic and Statistical Manual of Mental Disorders - Fourth Edition, Text Revision) criteria. Significant correlation was found between presence of antepartum haemorrhage, pregnancy induced hypertension, preterm delivery and autism in the baby. Perinatal complications are important risk factor for autism. Knowing the risk factors will help clinicians to be aware of the avoidable complications, and to undertake either preventive steps or intense intervention to reduce the degree of disability.

  7. Motor development and motor resonance difficulties in autism: relevance to early intervention for language and communication skills

    PubMed Central

    McCleery, Joseph P.; Elliott, Natasha A.; Sampanis, Dimitrios S.; Stefanidou, Chrysi A.

    2013-01-01

    Research suggests that a sub-set of children with autism experience notable difficulties and delays in motor skills development, and that a large percentage of children with autism experience deficits in motor resonance. These motor-related deficiencies, which evidence suggests are present from a very early age, are likely to negatively affect social-communicative and language development in this population. Here, we review evidence for delayed, impaired, and atypical motor development in infants and children with autism. We then carefully review and examine the current language and communication-based intervention research that is relevant to motor and motor resonance (i.e., neural “mirroring” mechanisms activated when we observe the actions of others) deficits in children with autism. Finally, we describe research needs and future directions and developments for early interventions aimed at addressing the speech/language and social-communication development difficulties in autism from a motor-related perspective. PMID:23630476

  8. The Impacts of Home-Based Early Behavioural Intervention Programmes on Families of Children with Autism

    ERIC Educational Resources Information Center

    Trudgeon, Clare; Carr, Deborah

    2007-01-01

    Background: In the UK, Early Intensive Behavioural Intervention [EIBI] programmes typically are conducted within the homes of children with autism. Despite evidence for their effectiveness in producing appreciable developmental gains in children with autism, a concern expressed about EIBI programmes is that stressful effects from the high levels…

  9. A Pilot Study of a Culturally Adapted Early Intervention for Young Children with Autism Spectrum Disorders in China

    ERIC Educational Resources Information Center

    Xu, Yun; Yang, Jian; Yao, Jing; Chen, Jun; Zhuang, Xiangxiang; Wang, Wenxiang; Zhang, Xiaoli; Lee, Gabrielle T.

    2018-01-01

    The purpose of this study was to pilot test the effects of a culturally adapted early intervention influenced by the Early Start Denver Model (ESDM) on reduction of autism symptoms and severity categorization for young children with autism spectrum disorders in China. Participants were randomly assigned to either the control or intervention…

  10. First S.T.E.P.: A Model for the Early Identification of Children with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Koegel, Lynn Kern; Koegel, Robert L.; Nefdt, Nicolette; Fredeen, Rosy; Klein, Eileen F.; Bruinsma, Yvonne E. M.

    2005-01-01

    Even though children with autism spectrum disorder (ASD) can be reliably identified by autism experts at 18 months, and the majority of parents report symptoms before age 2, the average age of diagnosis for children with autism in the United States is 3 to 4 years of age. Early identification is especially vital given the growing amount of…

  11. Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort.

    PubMed

    Feinberg, Jason I; Bakulski, Kelly M; Jaffe, Andrew E; Tryggvadottir, Rakel; Brown, Shannon C; Goldman, Lynn R; Croen, Lisa A; Hertz-Picciotto, Irva; Newschaffer, Craig J; Fallin, M Daniele; Feinberg, Andrew P

    2015-08-01

    Epigenetic mechanisms such as altered DNA methylation have been suggested to play a role in autism, beginning with the classical association of Prader-Willi syndrome, an imprinting disorder, with autistic features. Here we tested for the relationship of paternal sperm DNA methylation with autism risk in offspring, examining an enriched-risk cohort of fathers of autistic children. We examined genome-wide DNA methylation (DNAm) in paternal semen biosamples obtained from an autism spectrum disorder (ASD) enriched-risk pregnancy cohort, the Early Autism Risk Longitudinal Investigation (EARLI) cohort, to estimate associations between sperm DNAm and prospective ASD development, using a 12-month ASD symptoms assessment, the Autism Observation Scale for Infants (AOSI). We analysed methylation data from 44 sperm samples run on the CHARM 3.0 array, which contains over 4 million probes (over 7 million CpG sites), including 30 samples also run on the Illumina Infinium HumanMethylation450 (450K) BeadChip platform (∼485 000 CpG sites). We also examined associated regions in an independent sample of post-mortem human brain ASD and control samples for which Illumina 450K DNA methylation data were available. Using region-based statistical approaches, we identified 193 differentially methylated regions (DMRs) in paternal sperm with a family-wise empirical P-value [family-wise error rate (FWER)] <0.05 associated with performance on the Autism Observational Scale for Infants (AOSI) at 12 months of age in offspring. The DMRs clustered near genes involved in developmental processes, including many genes in the SNORD family, within the Prader-Willi syndrome gene cluster. These results were consistent among the 75 probes on the Illumina 450K array that cover AOSI-associated DMRs from CHARM. Further, 18 of 75 (24%) 450K array probes showed consistent differences in the cerebellums of autistic individuals compared with controls. These data suggest that epigenetic differences in paternal

  12. Early Intervention Outcomes for Toddlers with Autism Spectrum Disorder and Their Families

    ERIC Educational Resources Information Center

    Noyes-Grosser, Donna M.; Elbaum, Batya; Wu, Yan; Siegenthaler, Kirsten M.; Cavalari, Rachel S.; Gillis, Jennifer M.; Romanczyk, Raymond G.

    2018-01-01

    Autism spectrum disorder (ASD) can be diagnosed as early as 18 months of age. State Early Intervention (EI) programs under Part C of the Individuals with Disabilities Education Act (IDEA) are serving increasing numbers of children with ASD; however, little is known about outcomes of these services. This study evaluated the impact of EI for…

  13. Tumor necrosis factor-alpha expression in peripheral blood mononuclear cells correlates with early childhood social interaction in autism spectrum disorder.

    PubMed

    Makinodan, Manabu; Iwata, Keiko; Ikawa, Daisuke; Yamashita, Yasunori; Yamamuro, Kazuhiko; Toritsuka, Michihiro; Kimoto, Sohei; Okumura, Kazuki; Yamauchi, Takahira; Yoshino, Hiroki; Tsujii, Masatsugu; Sugiyama, Toshiro; Tsuchiya, Kenji; Mori, Norio; Matsuzaki, Hideo; Kishimoto, Toshifumi

    2017-03-01

    Autism spectrum disorder is a neurodevelopmental disorder characterized by impaired social interaction, poor communication skills, and repetitive/restrictive behaviors. Elevated blood levels of pro-inflammatory cytokines have been reported in subjects with autism spectrum disorder. On the other hand, early childhood adverse experience also increases blood levels of these cytokines. Since social experience of children with autism spectrum disorder is generally unlike to typically developing children, we hypothesized that social interaction during childhood contribute to pro-inflammatory cytokine expression in subjects with autism spectrum disorder. We compared revised Autism Diagnostic Interview scores and expression levels of pro-inflammatory cytokines in peripheral blood mononuclear cells of subjects with autism spectrum disorder (n = 30). The score of domain A on the revised Autism Diagnostic Interview, indicating social interaction impairment in early childhood, was negatively correlated with tumor necrosis factor-α mRNA expression level in peripheral blood mononuclear cells but not interleukin-1β or -6. Consistently, tumor necrosis factor-α mRNA expression was markedly low in subjects with autism spectrum disorder compared to typically developing children who presumably experienced the regular levels of social interaction. These findings suggest that the low blood levels of tumor necrosis factor-α mRNA in subjects with autism spectrum disorder might be due to impaired social interaction in early childhood. Copyright © 2016 Elsevier Ltd. All rights reserved.

  14. Early Detection of Autism Spectrum Disorder in Young isiZulu-Speaking Children in South Africa

    ERIC Educational Resources Information Center

    Chambers, Nola J.; Wetherby, Amy M.; Stronach, Sheri T.; Njongwe, Nonyameko; Kauchali, Shuaib; Grinker, Richard R.

    2017-01-01

    Culturally appropriate tools are needed for detecting symptoms of autism spectrum disorder in young South African children. The objectives of this study were to (1) adapt and translate into isiZulu existing measures for detecting early signs of autism spectrum disorder, (2) use the measures to characterize and compare behavioural profiles of young…

  15. Aging with autism spectrum disorder: an emerging public health problem.

    PubMed

    Hategan, Ana; Bourgeois, James A; Goldberg, Jeremy

    2017-04-01

    From 1943, when Leo Kanner originally described autism, and to the first objective criteria for "infantile autism" in DSM-III and the inclusion of Asperger's disorder in DSM-IV, the subsequent classification scheme for autistic disorders has led to a substantial change with the 2013 issuance of the DSM-5 by including subcategories into one umbrella diagnosis of autism spectrum disorder (ASD) (Baker, 2013). ASD is a lifelong neurodevelopmental disorder, characterized by social and communication impairments and restricted, stereotypical patterns of behavior (Baker, 2013). It is currently expected that most, or all of the actual cases of ASD, are identified in a timely way (i.e. in early childhood). However, there are many undiagnosed older adults who may have met the current diagnostic criteria for ASD as children, but never received such a diagnosis due to the fact it had yet to be established. In addition, some patients with relatively less impairing phenotypes may escape formal diagnosis in childhood, only to later be diagnosed in adulthood. Nevertheless, the first generation of diagnosed patients with ASD is now in old age. Many such ASD patients have needed family and institutional support for their lives subsequent to childhood diagnosis. Due to aging and death of their parents and other supportive figures leading to a loss of social structures, there is no better time than now for the medical community to act.

  16. Attitudes of the Autism Community to Early Autism Research

    ERIC Educational Resources Information Center

    Fletcher-Watson, Sue; Apicella, Fabio; Auyeung, Bonnie; Beranova, Stepanka; Bonnet-Brilhault, Frederique; Canal-Bedia, Ricardo; Charman, Tony; Chericoni, Natasha; Conceição, Inês C.; Davies, Kim; Farroni, Teresa; Gomot, Marie; Jones, Emily; Kaale, Anett; Kapica, Katarzyna; Kawa, Rafal; Kylliäinen, Anneli; Larsen, Kenneth; Lefort-Besnard, Jeremy; Malvy, Joelle; Manso de Dios, Sara; Markovska-Simoska, Silvana; Millo, Inbal; Miranda, Natercia; Pasco, Greg; Pisula, Ewa; Raleva, Marija; Rogé, Bernadette; Salomone, Erica; Schjolberg, Synnve; Tomalski, Przemyslaw; Vicente, Astrid M.; Yirmiya, Nurit

    2017-01-01

    Investigation into the earliest signs of autism in infants has become a significant sub-field of autism research. This work invokes specific ethical concerns such as use of "at-risk" language, communicating study findings to parents and the future perspective of enrolled infants when they reach adulthood. This study aimed to ground this…

  17. 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

    ERIC Educational Resources Information Center

    Schendel, Diana E.; DiGuiseppi, Carolyn; Croen, Lisa A.; Fallin, M. Daniele; Reed, Philip L.; Schieve, Laura A.; Wiggins, Lisa D.; Daniels, Julie; Grether, Judith; Levy, Susan E.; Miller, Lisa; Newschaffer, Craig; Pinto-Martin, Jennifer; Robinson, Cordelia; Windham, Gayle C.; Alexander, Aimee; Aylsworth, Arthur S.; Bernal, Pilar; Bonner, Joseph D.; Blaskey, Lisa; Bradley, Chyrise; Collins, Jack; Ferretti, Casara J.; 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, Steven; Rusyniak, Julie; Shapira, Stuart K.; Smith, Karen; Souders, Margaret; Thompson, Patrick Aaron; Young, Lisa; Yeargin-Allsopp, Marshalyn

    2012-01-01

    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,…

  18. Infantile masturbation and paroxysmal disorders.

    PubMed

    Omran, Mohammadreza Salehi; Ghofrani, Mohammad; Juibary, Ali Ghabeli

    2008-02-01

    A recurrent paroxysmal presentation in children leads to different diagnoses and among them are neurologic and cardiac etiologies. Infantile masturbation is not a well known entity and cannot be differentiated easily from other disorders. Aim of this study is to elucidate and differentiate this condition from epileptic seizures. We report 3 cases of 10 to 30 mth old girls of infantile masturbation that their symptoms initiated at 2, 3 and 8 mth of age. These present with contraction and extension of lower extremities, scissoring of legs, perspiration, changing face color. In 2 cases body rocking and legs rubbing initiated then there after. Masturbation is one of the paroxysmal non-epileptic conditions of early infancy and is in differential diagnosis of epileptic seizures.

  19. 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

  20. Autism and genetics: Clinical approach and association study with two markers of HRAS gene

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Herault, J.; Petit, E.; Cherpi, C.

    Twin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c-Harvey-ras (HRAS) oncogene marker at the 3{prime} end of the coding region. In an attempt to confirm this finding, we studied a larger population, well-characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3{prime} marker used in the initial study and an additional marker in exon 1. 46 refs., 1 fig., 2 tabs.

  1. Similar developmental trajectories in autism and Asperger syndrome: from early childhood to adolescence.

    PubMed

    Szatmari, Peter; Bryson, Susan; Duku, Eric; Vaccarella, Liezanne; Zwaigenbaum, Lonnie; Bennett, Teresa; Boyle, Michael H

    2009-12-01

    The objective of this study was to chart the developmental trajectories of high-functioning children with autism spectrum disorders (ASD) from early childhood to adolescence using the presence and absence of structural language impairment (StrLI) as a way of differentiating autism from Asperger syndrome (AS). Sixty-four high-functioning children with ASD were ascertained at 4-6 years of age from several different regional diagnostic and treatment centers. At 6-8 years of age, the ADI-R and the Test of Oral Language Development were used to define an autism group (those with StrLI at 6-8 years of age) and an AS group (those without StrLI). Growth curve analysis was then used to chart the developmental trajectories of these children on measures of autistic symptoms, and adaptive skills in communication, daily living and socialization. Differentiating the ASD group in terms of the presence/absence of StrLI provided a better explanation of the variation in growth curves than not differentiating high-functioning ASD children. The two groups had similar developmental trajectories but the group without StrLI (the AS group) was functioning better and had fewer autistic symptoms than the group with StrLI (the autism group) on all measures across time. The differences in outcome could not be explained by non-verbal IQ or change in early language skills. Distinguishing between autism and Asperger syndrome based on the presence or absence of StrLI appears to be a clinically useful way of classifying ASD sub-types.

  2. Parent and clinician agreement regarding early behavioral signs in 12- and 18-month-old infants at-risk of autism spectrum disorder.

    PubMed

    Sacrey, Lori-Ann R; Zwaigenbaum, Lonnie; Bryson, Susan; Brian, Jessica; Smith, Isabel M; Roberts, Wendy; Szatmari, Peter; Vaillancourt, Tracy; Roncadin, Caroline; Garon, Nancy

    2018-03-01

    Parent and clinician agreement regarding early behavioral signs of Autism Spectrum Disorder (ASD) in children from a high-risk cohort (siblings of children diagnosed with ASD, n = 188) was examined. Infants were assessed prospectively at 12 and 18 months of age using the clinician administered Autism Observational Scale for Infants (AOSI) and the Autism Parent Screen for Infants (APSI) and underwent a blind independent diagnostic assessment for ASD at 36 months of age. Direct comparison of parent and clinician ratings showed poor agreement on all early behavioral signs, with parent-reported symptoms being better able to differentiate between children with and without ASD at both 12 and 18 months of age compared to clinician observations during a brief office visit. The results suggest that parents may detect some clinically informative behaviors based on their day-to-day observations more readily than do clinicians during brief clinical assessments, a result that needs to be replicated in a non-sibling cohort. Autism Res 2018, 11: 539-547. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. Parents of children at high-risk of autism spectrum disorder (ASD; have an older sibling with ASD) and clinicians were compared on their reporting of 19 early signs of autism. Direct comparison of parent and clinician ratings showed poor agreement on all early behavioral signs, with parent-reported symptoms being better able to differentiate between children with and without ASD at both 12 and 18 months of age compared to clinician observations during a brief office visit. This suggests that parents may have important information regarding early development of their high-risk child. © 2018 International Society for Autism Research, Wiley Periodicals, Inc.

  3. Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant.

    PubMed

    Tenney, Jeffrey R; Prada, Carlos E; Hopkin, Robert J; Hallinan, Barbara E

    2013-12-01

    Leigh syndrome, due to a dysfunction of mitochondrial energy metabolism, is a genetically heterogeneous and progressive neurologic disorder that usually occurs in infancy and childhood. Its clinical presentation and neuroimaging findings can be variable, especially early in the course of the disease. This report presents a patient with infantile Leigh syndrome who had atypical radiologic findings on serial neuroimaging studies with early and severe involvement of the cervical spinal cord and brainstem and injury to the thalami and basal ganglia occurring only late in the clinical course. Postmortem microscopic examination supported this timing of injury within the central nervous system. In addition, mitochondrial deoxyribonucleic acid sequencing showed a novel homoplasmic variant that could be responsible for this unique lethal form of Leigh syndrome.

  4. Screening for Autism in Young Children with Developmental Delay: An Evaluation of the Developmental Behaviour Checklist--Early Screen

    ERIC Educational Resources Information Center

    Gray, K. M.; Tonge, B. J.; Sweeney, D. J.; Einfeld, S. L.

    2008-01-01

    The ability to identify children who require specialist assessment for the possibility of autism at as early an age as possible has become a growing area of research. A number of measures have been developed as potential screening tools for autism. The reliability and validity of one of these measures for screening for autism in young children…

  5. Global motion perception deficits in autism are reflected as early as primary visual cortex

    PubMed Central

    Thomas, Cibu; Kravitz, Dwight J.; Wallace, Gregory L.; Baron-Cohen, Simon; Martin, Alex; Baker, Chris I.

    2014-01-01

    Individuals with autism are often characterized as ‘seeing the trees, but not the forest’—attuned to individual details in the visual world at the expense of the global percept they compose. Here, we tested the extent to which global processing deficits in autism reflect impairments in (i) primary visual processing; or (ii) decision-formation, using an archetypal example of global perception, coherent motion perception. In an event-related functional MRI experiment, 43 intelligence quotient and age-matched male participants (21 with autism, age range 15–27 years) performed a series of coherent motion perception judgements in which the amount of local motion signals available to be integrated into a global percept was varied by controlling stimulus viewing duration (0.2 or 0.6 s) and the proportion of dots moving in the correct direction (coherence: 4%, 15%, 30%, 50%, or 75%). Both typical participants and those with autism evidenced the same basic pattern of accuracy in judging the direction of motion, with performance decreasing with reduced coherence and shorter viewing durations. Critically, these effects were exaggerated in autism: despite equal performance at the long duration, performance was more strongly reduced by shortening viewing duration in autism (P < 0.015) and decreasing stimulus coherence (P < 0.008). To assess the neural correlates of these effects we focused on the responses of primary visual cortex and the middle temporal area, critical in the early visual processing of motion signals, as well as a region in the intraparietal sulcus thought to be involved in perceptual decision-making. The behavioural results were mirrored in both primary visual cortex and the middle temporal area, with a greater reduction in response at short, compared with long, viewing durations in autism compared with controls (both P < 0.018). In contrast, there was no difference between the groups in the intraparietal sulcus (P > 0.574). These findings suggest that

  6. Early alterations of social brain networks in young children with autism

    PubMed Central

    Kojovic, Nada; Rihs, Tonia Anahi; Jan, Reem Kais; Franchini, Martina; Plomp, Gijs; Vulliemoz, Serge; Eliez, Stephan; Michel, Christoph Martin; Schaer, Marie

    2018-01-01

    Social impairments are a hallmark of Autism Spectrum Disorders (ASD), but empirical evidence for early brain network alterations in response to social stimuli is scant in ASD. We recorded the gaze patterns and brain activity of toddlers with ASD and their typically developing peers while they explored dynamic social scenes. Directed functional connectivity analyses based on electrical source imaging revealed frequency specific network atypicalities in the theta and alpha frequency bands, manifesting as alterations in both the driving and the connections from key nodes of the social brain associated with autism. Analyses of brain-behavioural relationships within the ASD group suggested that compensatory mechanisms from dorsomedial frontal, inferior temporal and insular cortical regions were associated with less atypical gaze patterns and lower clinical impairment. Our results provide strong evidence that directed functional connectivity alterations of social brain networks is a core component of atypical brain development at early stages of ASD. PMID:29482718

  7. Early Pragmatic Language Difficulties in Siblings of Children with Autism: Implications for "DSM-5" Social Communication Disorder?

    ERIC Educational Resources Information Center

    Miller, Meghan; Young, Gregory S.; Hutman, Ted; Johnson, Scott; Schwichtenberg, A. J.; Ozonoff, Sally

    2015-01-01

    Background: We evaluated early pragmatic language skills in preschool-age siblings of children with autism spectrum disorder (ASD), and examined correspondence between pragmatic language impairments and general language difficulties, autism symptomatology, and clinical outcomes. Methods: Participants were younger siblings of children with ASD…

  8. Psychiatric disorders in individuals diagnosed with infantile autism as children: a case control study.

    PubMed

    Mouridsen, Svend Erik; Rich, Bente; Isager, Torben; Nedergaard, Niels Jørgen

    2008-01-01

    The objective of this study was to compare the prevalence and types of psychiatric disorders in a clinical sample of 118 individuals diagnosed as children with infantile autism (IA) with psychiatric disorders in 336 matched controls from the general population using data from the nationwide Danish Psychiatric Central Register. The average observation time was 32.5 years, and mean age at follow-up was 40.6 years (range 25-55 years). Of the 118 individuals with IA, 57 (48.3%) had been in contact with psychiatric hospitals (inpatient hospitalization or outpatient visits) during the follow-up period, compared with 20/336 (6.0%) in the control group (p < 0.0001). This observation should alert general psychiatrists to the possibility of additional treatable psychiatric disorders occurring in individuals with IA. Of the 118 individuals in the IA group, 20 individuals (17%) had been given a comorbid psychiatric diagnosis during the observation period, compared with 9 individuals (2.7%) in the control group. Of the subjects with IA, 3.4% had received a diagnosis of schizophrenia (F20) at least once since the index admission in childhood, 0.8% had been diagnosed with delusional disorder (F22), 0.8% with acute psychotic disorder (F23), and 1.6% with unspecified non-organic psychosis (F29). In the control group, 0.9% had been diagnosed with schizophrenia (p = 0.08). In the group with IA, 3.4% had received a diagnosis in the broad category of affective disorders compared with 1.2% in the control group (p = 0.21). Issues associated with using registers in the ascertainment of co-occurring psychiatric disorders in IA are discussed.

  9. A failure of left temporal cortex to specialize for language is an early emerging and fundamental property of autism

    PubMed Central

    Pierce, Karen; Courchesne, Eric

    2012-01-01

    Failure to develop normal language comprehension is an early warning sign of autism, but the neural mechanisms underlying this signature deficit are unknown. This is because of an almost complete absence of functional studies of the autistic brain during early development. Using functional magnetic resonance imaging, we previously observed a trend for abnormally lateralized temporal responses to language (i.e. greater activation on the right, rather than the expected left) in a small sample (n = 12) of sleeping 2–3 year olds with autism in contrast to typically developing children, a finding also reported in autistic adults and adolescents. It was unclear, however, if findings of atypical laterality would be observed in a larger sample, and at even earlier ages in autism, such as around the first birthday. Answers to these questions would provide the foundation for understanding how neurofunctional defects of autism unfold, and provide a foundation for studies using patterns of brain activation as a functional early biomarker of autism. To begin to examine these issues, a prospective, cross-sectional design was used in which brain activity was measured in a large sample of toddlers (n = 80) during the presentation of a bedtime story during natural sleep. Forty toddlers with autism spectrum disorder and 40 typically developing toddlers ranging in age between 12–48 months participated. Any toddler with autism who participated in the imaging experiment prior to final diagnosis was tracked and diagnoses confirmed at a later age. Results indicated that at-risk toddlers later diagnosed as autistic display deficient left hemisphere response to speech sounds and have abnormally right-lateralized temporal cortex response to language; this defect worsens with age, becoming most severe in autistic 3- and 4-year-olds. Typically developing children show opposite developmental trends with a tendency towards greater temporal cortex response with increasing age and

  10. The developmental disruptions of serotonin signaling may involved in autism during early brain development.

    PubMed

    Yang, C-J; Tan, H-P; Du, Y-J

    2014-05-16

    Autism is a developmental disorder defined by the presence of a triad of communication, social and stereo typical behavioral characteristics with onset before 3years of age. In spite of the fact that there are potential environmental factors for autistic behavior, the dysfunction of serotonin during early development of the brain could be playing a role in this prevalence rise. Serotonin can modulate a number of developmental events, including cell division, neuronal migration, cell differentiation and synaptogenesis. Hyperserotonemia during fetal development results in the loss of serotonin terminals through negative feedback. The increased serotonin causes a decrease of oxytocin in the paraventricular nucleus of the hypothalamus and an increase in calcitonin gene-related peptide (CGRP) in the central nucleus of the amygdale, which are associated with social interactions and vital in autism. However, hyposerotonemia may be also relevant to the development of sensory as well as motor and cognitive faculties. And the paucity of placenta-derived serotonin should have potential importance when the pathogenesis of autism is considered. This review briefly summarized the developmental disruptions of serotonin signaling involved in the pathogenesis of autism during early development of the brain. Copyright © 2014 IBRO. Published by Elsevier Ltd. All rights reserved.

  11. Patterns of Early Skill Attainment and Loss in Young Children with Autism

    PubMed Central

    Thurm, Audrey; Manwaring, Stacy S.; Luckenbaugh, David A.; Lord, Catherine; Swedo, Susan E.

    2015-01-01

    The purpose of this study was to extend the literature on the ontogeny of autism spectrum disorder (ASD) by examining early attainment and loss of specific sociocommunicative skills in children with autism (AUT; n = 125), pervasive developmental disorder not otherwise specified (PDD-NOS; n = 42), nonspectrum developmental delays (n = 46), and typical development (n = 31). The ages of skill attainment and loss were obtained from a caregiver interview. The findings indicated that children with AUT, PDD-NOS, and developmental delays diverged from typically developing children in attainment of sociocommunicative skills early in the first year of life. Loss of at least one skill was reported in a majority of children with AUT and PDD-NOS. Significant delays in attainment of skills were also reported in children who lost skills. The wide variation in skill attainment and loss reported across children indicates that symptom onset and regression may be best represented continuously, with at least some early delay and loss present for a great majority of children with ASD. PMID:24274034

  12. News in early intervention in autism.

    PubMed

    Geoffray, Marie-Maude; Thevenet, Marion; Georgieff, Nicolas

    2016-09-01

    Autism Spectrum Disorder (ASD) is a complex neurodevelopmental trouble which prevents the child from socio-communicative interaction, and learning from his environment. Non-medical early intervention attempts to improve prognosis. We will review the main current hypothesis, intervention models and scientific supports about early intervention. We conducted a search of the literature published on Medline between 2010 and 2015 related to intervention models provided to children with ASD aged less than 3 years. Data were extracted from systematic reviews and recent randomized controlled trials with moderate to high GRADE quality of evidence. Early intervention refers to brain plasticity theory. With the epidemiological studies of infant "at risk" there is an attempt to intervene earlier before full syndrome is present. Interventions tend to follow more on a developmental hierarchy of socio-communicative skills and to focus on the dyadic relation between the child and the caregivers to improve the core autistic symptoms. Over the last 6 years, there's been news and fine-tuned ways about early intervention, and more and more systematic evaluation. However, there are only few interventions which were evaluated in trial with a strong GRADE recommendation and all of them have methodological concerns. It is important to be cautious in recommendations for mental health politic, even if it is important to improve access to services for all children and their families, hence finance and design rigorous project in research.

  13. Long-Term Outcomes of Early Intervention in 6-Year-Old Children With Autism Spectrum Disorder

    PubMed Central

    Estes, Annette; Munson, Jeffrey; Rogers, Sally J.; Greenson, Jessica; Winter, Jamie; Dawson, Geraldine

    2015-01-01

    Objective We prospectively examine evidence for the sustained effects of early intervention based on a follow-up study of 39 children with ASD who began participation in a randomized clinical trial testing the effectiveness of the Early Start Denver Model (ESDM) at age 18–30 months. The intervention, conducted at a high level of intensity in-home for 2 years, showed evidence of efficacy immediately posttreatment. Method This group of children was assessed at age 6, two years after the intervention ended, across multiple domains of functioning by clinicians naïve to previous intervention group status. Results The ESDM group, on average, maintained gains made in early intervention during the 2-year follow-up period in overall intellectual ability, adaptive behavior, symptom severity, and challenging behavior. No group differences in core autism symptoms were found immediately posttreatment; however, two years later, the ESDM group demonstrated improved core autism symptoms and adaptive behavior as compared with the community-intervention-as-usual (COM) group. The two groups were not significantly different in terms of intellectual functioning at age 6. The two groups received equivalent intervention hours during the original study, but the ESDM group received fewer hours during the follow-up period. Conclusion These results provide evidence that gains from early intensive intervention are maintained 2 years later. Notably, core autism symptoms improved in the ESDM group over the follow-up period relative to the COM group. This improvement occurred at the same time the ESDM group received significantly fewer services. This is the first study to examine the role of early ESDM behavioral intervention initiated below 30 months of age in altering the longer term developmental course of autism. PMID:26088663

  14. Long-Term Outcomes of Early Intervention in 6-Year-Old Children With Autism Spectrum Disorder.

    PubMed

    Estes, Annette; Munson, Jeffrey; Rogers, Sally J; Greenson, Jessica; Winter, Jamie; Dawson, Geraldine

    2015-07-01

    We prospectively examined evidence for the sustained effects of early intervention based on a follow-up study of 39 children with ASD who began participation in a randomized clinical trial testing the effectiveness of the Early Start Denver Model (ESDM) at age 18 to 30 months. The intervention, conducted at a high level of intensity in-home for 2 years, showed evidence of efficacy immediately posttreatment. This group of children was assessed at age 6 years, 2 years after the intervention ended, across multiple domains of functioning by clinicians naive to previous intervention group status. The ESDM group, on average, maintained gains made in early intervention during the 2-year follow-up period in overall intellectual ability, adaptive behavior, symptom severity, and challenging behavior. No group differences in core autism symptoms were found immediately posttreatment; however, 2 years later, the ESDM group demonstrated improved core autism symptoms and adaptive behavior as compared with the community-intervention-as-usual (COM) group. The 2 groups were not significantly different in terms of intellectual functioning at age 6 years. Both groups received equivalent intervention hours during the original study, but the ESDM group received fewer hours during the follow-up period. These results provide evidence that gains from early intensive intervention are maintained 2 years later. Notably, core autism symptoms improved in the ESDM group over the follow-up period relative to the COM group. This improvement occurred at the same time that the ESDM group received significantly fewer services. This is the first study to examine the role of early ESDM behavioral intervention initiated at less than 30 months of age in altering the longer-term developmental course of autism. Copyright © 2015 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  15. Infantile Hepatic Hemangioendothelioma: An Uncommon Cause of Persistent Pulmonary Hypertension in a Newborn Infant.

    PubMed

    Chatmethakul, Trassanee; Bhat, Ramachandra; Alkaabi, Maryam; Siddiqui, Abdul; Peevy, Keith; Zayek, Michael

    2016-07-01

    Multifocal and diffuse infantile hepatic hemangioendotheliomas commonly present with signs of high-output congestive heart failure. In addition, prolonged persistent pulmonary overcirculation eventually leads to the development of pulmonary hypertension at a later age. We report a 2-day old, full-term infant with multifocal, large infantile hepatic hemangioendothelioma, who presented with an early onset of pulmonary hypertension, managed successfully with supportive care and systemic therapy directed toward the involution of infantile hepatic hemangioendothelioma.

  16. [Basics of early intervention in children with autism spectrum disorders].

    PubMed

    Zalaquett, Daniela F; Schönstedt, Marianne G; Angeli, Milagros; Herrrera, Claudia C; Moyano, Andrea C

    2015-01-01

    Autism Spectrum Disorders (ASD) are characterized by impairments in communication and social interaction, as well as restricted and repetitive patterns of behavior. They have a prevalence of 0.6% in the general population, although there are no national statistics. Even though their evolution is variable, it has been observed that early intervention is an important factor determining prognosis. The aim of this study is to update concepts regarding the current available evidence on the importance of early intervention. After analyzing the collected information, the importance of early intervention programs for children with ASD is confirmed, as well as the role of pediatricians and other health professionals in the early detection of these disorders. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  17. Autism

    PubMed Central

    Levy, Susan E; Mandell, David S; Schultz, Robert T

    2010-01-01

    Autism spectrum disorders are characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviours. Increases over time in the frequency of these disorders (to present rates of about 60 cases per 10 000 children) might be attributable to factors such as new administrative classifications, policy and practice changes, and increased awareness. Surveillance and screening strategies for early identification could enable early treatment and improved outcomes. Autism spectrum disorders are highly genetic and multifactorial, with many risk factors acting together. Genes that affect synaptic maturation are implicated, resulting in neurobiological theories focusing on connectivity and neural effects of gene expression. Several treatments might address core and comorbid symptoms. However, not all treatments have been adequately studied. Improved strategies for early identification with phenotypic characteristics and biological markers (eg, electrophysiological changes) might hopefully improve effectiveness of treatment. Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed. PMID:19819542

  18. Autism.

    PubMed

    Levy, Susan E; Mandell, David S; Schultz, Robert T

    2009-11-07

    Autism spectrum disorders are characterised by severe deficits in socialisation, communication, and repetitive or unusual behaviours. Increases over time in the frequency of these disorders (to present rates of about 60 cases per 10,000 children) might be attributable to factors such as new administrative classifications, policy and practice changes, and increased awareness. Surveillance and screening strategies for early identification could enable early treatment and improved outcomes. Autism spectrum disorders are highly genetic and multifactorial, with many risk factors acting together. Genes that affect synaptic maturation are implicated, resulting in neurobiological theories focusing on connectivity and neural effects of gene expression. Several treatments might address core and comorbid symptoms. However, not all treatments have been adequately studied. Improved strategies for early identification with phenotypic characteristics and biological markers (eg, electrophysiological changes) might hopefully improve effectiveness of treatment. Further knowledge about early identification, neurobiology of autism, effective treatments, and the effect of this disorder on families is needed.

  19. A calendar savant with autism and Tourette syndrome. Response to treatment and thoughts on the interrelationships of these conditions.

    PubMed

    Nelson, E C; Pribor, E F

    1993-06-01

    A case of a calendar savant with infantile autism and Tourette syndrome is presented. Pharmacotherapy and comorbidity issues are discussed in terms of the interrelationships of these conditions and obsessive-compulsive disorder.

  20. Potential for treatment of severe autism in tuberous sclerosis complex

    PubMed Central

    Gipson, Tanjala T; Gerner, Gwendolyn; Wilson, Mary Ann; Blue, Mary E; Johnston, Michael V

    2013-01-01

    The Food and Drug Administration (FDA) has approved two mechanism-based treatments for tuberous sclerosis complex (TSC)-everolimus and vigabatrin. However, these treatments have not been systematically studied in individuals with TSC and severe autism. The aim of this review is to identify the clinical features of severe autism in TSC, applicable preclinical models, and potential barriers that may warrant strategic planning in the design phase of clinical trial development. A comprehensive search strategy was formed and searched across PubMed, Embase and SCOPUS from their inception to 2/21/12, 3/16/12, and 3/12/12 respectively. After the final search date, relevant, updated articles were selected from PubMed abstracts generated electronically and emailed daily from PubMed. The references of selected articles were searched, and relevant articles were selected. A search of clinicaltrials.gov was completed using the search term “TSC” and “tuberous sclerosis complex”. Autism has been reported in as many as 60% of individuals with TSC; however, review of the literature revealed few data to support clear classification of the severity of autism in TSC. Variability was identified in the diagnostic approach, assessment of cognition, and functional outcome among the reviewed studies and case reports. Objective outcome measures were not used in many early studies; however, diffusion tensor imaging of white matter, neurophysiologic variability in infantile spasms, and cortical tuber subcategories were examined in recent studies and may be useful for objective classification of TSC in future studies. Mechanism-based treatments for TSC are currently available. However, this literature review revealed two potential barriers to successful design and implementation of clinical trials in individuals with severe autism-an unclear definition of the population and lack of validated outcome measures. Recent studies of objective outcome measures in TSC and further study of

  1. CDC Kerala 14: Early child care practices at home among children (2-6 y) with autism--a case control study.

    PubMed

    George, Babu; Padmam, M S Razeena; Nair, M K C; Leena, M L; Russell, Paul Swamidhas Sudhakar

    2014-12-01

    To compare early child care practices at home as possible risk factors among children between 2 and 6 y of age with autism and a control group of normal children without any symptom of autism, presenting at the well-baby/immunization clinic. This case control study was undertaken at the autism clinic of CDC Kerala, comparing possible risk factors for autism among 143 children between 2 and 6 y with autism as per CARS criteria and a control group of 200 normal children of the same age from well-baby/immunization clinic of SAT hospital. The data was collected using a structured pre-piloted questionnaire, which included 11 questions administered by the same senior social scientist, on early child care practices at home that have been universally considered as important for child development. On multivariate analysis on early child care practices at home as possible risk factors for autism, it was observed that statistically significant high odds ratios were present for (i) no outings (OR = 3.36; 95% CI: 1.39-8.16; p 0.007); (ii) child does not play with children of same age (OR = 19.57; 95% CI: 9.50-40.32); (iii) do not tell stories/sing songs to the child (OR = 3.21; 9 % CI: 1.61-6.41); and (iv) breastfeeding duration nil/ < 6 mo (OR = 3.40; 95% CI: 1.28-8.99). This case control study involving 143 children between 2 and 6 y with autism as per CARS criteria and a control group of 200 normal children has shown that early child care practices at home, specifically breastfeeding duration nil/ < 6 mo, child does not play with children of same age, do not tell stories/sing songs to the child and no outings for the child are possible risk factors for autism.

  2. Neural mechanisms of oculomotor abnormalities in the infantile strabismus syndrome.

    PubMed

    Walton, Mark M G; Pallus, Adam; Fleuriet, Jérome; Mustari, Michael J; Tarczy-Hornoch, Kristina

    2017-07-01

    Infantile strabismus is characterized by numerous visual and oculomotor abnormalities. Recently nonhuman primate models of infantile strabismus have been established, with characteristics that closely match those observed in human patients. This has made it possible to study the neural basis for visual and oculomotor symptoms in infantile strabismus. In this review, we consider the available evidence for neural abnormalities in structures related to oculomotor pathways ranging from visual cortex to oculomotor nuclei. These studies provide compelling evidence that a disturbance of binocular vision during a sensitive period early in life, whatever the cause, results in a cascade of abnormalities through numerous brain areas involved in visual functions and eye movements. Copyright © 2017 the American Physiological Society.

  3. Early Childhood Assessments of Community Pediatric Professionals Predict Autism Spectrum and Attention Deficit Hyperactivity Problems

    ERIC Educational Resources Information Center

    Jaspers, Merlijne; de Winter, Andrea F.; Buitelaar, Jan K.; Verhulst, Frank C.; Reijneveld, Sijmen A.; Hartman, Catharina A.

    2013-01-01

    For clinically referred children with Autism Spectrum Disorder (ASD) or Attention Deficit/Hyperactivity Disorder (ADHD) several early indicators have been described. However, knowledge is lacking on early markers of less severe variants of ASD and ADHD from the general population. The aim of the present study is to identify early indicators of…

  4. Assessing Early Communication Skills at 12 Months: A Retrospective Study of Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Swain, Nathaniel Robert; Eadie, Patricia Ann; Prior, Margot Ruth; Reilly, Sheena

    2015-01-01

    Background: Early identification of Autism Spectrum Disorder (ASD) is currently limited by the absence of reliable biological markers for the disorder, as well as the reliability of screening and assessment tools for children aged between 6 and 18 months. Ongoing research has demonstrated the importance of early social communication skills in…

  5. Assessing early implementation of state autism insurance mandates.

    PubMed

    Baller, Julia Berlin; Barry, Colleen L; Shea, Kathleen; Walker, Megan M; Ouellette, Rachel; Mandell, David S

    2016-10-01

    In the United States, health insurance coverage for autism spectrum disorder treatments has been historically limited. In response, as of 2015, 40 states and Washington, DC, have passed state autism insurance mandates requiring many health plans in the private insurance market to cover autism diagnostic and treatment services. This study examined five states' experiences implementing autism insurance mandates. Semi-structured, key-informant interviews were conducted with 17 participants representing consumer advocacy organizations, provider organizations, and health insurance companies. Overall, participants thought that the mandates substantially affected the delivery of autism services. While access to autism treatment services has increased as a result of implementation of state mandates, states have struggled to keep up with the demand for services. Participants provided specific information about barriers and facilitators to meeting this demand. Understanding of key informants' perceptions about states' experiences implementing autism insurance mandates is useful for other states considering adopting or expanding mandates or other policies to expand access to autism treatment services. © The Author(s) 2015.

  6. Global motion perception deficits in autism are reflected as early as primary visual cortex.

    PubMed

    Robertson, Caroline E; Thomas, Cibu; Kravitz, Dwight J; Wallace, Gregory L; Baron-Cohen, Simon; Martin, Alex; Baker, Chris I

    2014-09-01

    Individuals with autism are often characterized as 'seeing the trees, but not the forest'-attuned to individual details in the visual world at the expense of the global percept they compose. Here, we tested the extent to which global processing deficits in autism reflect impairments in (i) primary visual processing; or (ii) decision-formation, using an archetypal example of global perception, coherent motion perception. In an event-related functional MRI experiment, 43 intelligence quotient and age-matched male participants (21 with autism, age range 15-27 years) performed a series of coherent motion perception judgements in which the amount of local motion signals available to be integrated into a global percept was varied by controlling stimulus viewing duration (0.2 or 0.6 s) and the proportion of dots moving in the correct direction (coherence: 4%, 15%, 30%, 50%, or 75%). Both typical participants and those with autism evidenced the same basic pattern of accuracy in judging the direction of motion, with performance decreasing with reduced coherence and shorter viewing durations. Critically, these effects were exaggerated in autism: despite equal performance at the long duration, performance was more strongly reduced by shortening viewing duration in autism (P < 0.015) and decreasing stimulus coherence (P < 0.008). To assess the neural correlates of these effects we focused on the responses of primary visual cortex and the middle temporal area, critical in the early visual processing of motion signals, as well as a region in the intraparietal sulcus thought to be involved in perceptual decision-making. The behavioural results were mirrored in both primary visual cortex and the middle temporal area, with a greater reduction in response at short, compared with long, viewing durations in autism compared with controls (both P < 0.018). In contrast, there was no difference between the groups in the intraparietal sulcus (P > 0.574). These findings suggest that reduced

  7. Autism: Will vitamin D supplementation during pregnancy and early childhood reduce the recurrence rate of autism in newborn siblings?

    PubMed

    Stubbs, G; Henley, K; Green, J

    2016-03-01

    Vitamin D deficiency is widespread in the world including the vulnerable group of pregnant women. Vitamin D deficiency during pregnancy is hypothesized to contribute to the cause of autism. Further, it is hypothesized that vitamin D supplementation during pregnancy and early childhood will reduce the recurrence rate of autism in newborn siblings. To investigate the hypothesis an open label prospective study was performed prescribing vitamin D during pregnancy to mothers of children with autism at a dose of 5000IU/day. The newborn siblings were at high risk for the recurrence of autism. The newborn infants were also prescribed vitamin D, 1000IU/day to their third birthday. The newborn siblings were followed for three years and during that time, were assessed for autism on two separate occasions: at 18months and 36months of age. The results were compared to the reported recurrence rates in siblings of autistic children in the literature. The final outcome was 1 out of 19 (5%) developed autism in contrast to the recurrence rate of approximately 20% in the literature. We did not have a control group, nor was there blinding. The results are promising, however, this is a preliminary study with very small numbers and was uncontrolled. Further study with larger numbers is indicated. The ethics of prescribing a low dosage of vitamin D such as 400IU D3/day to a control group of mothers in comparison to a large dose such as 5000IU D3/day are problematic in our opinion. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

  8. The Search for an Early Intervention Outcome Measurement Tool in Autism

    ERIC Educational Resources Information Center

    Fletcher-Watson, S.; McConachie, H.

    2017-01-01

    Evidence is accumulating that early intervention can be effective in improving the skills of young children with autism spectrum disorder. However, the science is hampered by the lack of agreed "gold standard" tools for the measurement of progress and outcome. What is required is a reliable, valid, and sensitive measure of change in the…

  9. Early Behavioral Intervention Is Associated With Normalized Brain Activity in Young Children With Autism

    PubMed Central

    Dawson, Geraldine; Jones, Emily J.H.; Merkle, Kristen; Venema, Kaitlin; Lowy, Rachel; Faja, Susan; Kamara, Dana; Murias, Michael; Greenson, Jessica; Winter, Jamie; Smith, Milani; Rogers, Sally J.; Webb, Sara J.

    2013-01-01

    Objective A previously published randomized clinical trial indicated that a developmental behavioral intervention, the Early Start Denver Model (ESDM), resulted in gains in IQ, language, and adaptive behavior of children with autism spectrum disorder. This report describes a secondary outcome measurement from this trial, EEG activity. Method Forty-eight 18- to 30-month-old children with autism spectrum disorder were randomized to receive the ESDM or referral to community intervention for 2 years. After the intervention (age 48 to 77 months), EEG activity (event-related potentials and spectral power) was measured during the presentation of faces versus objects. Age-matched typical children were also assessed. Results The ESDM group exhibited greater improvements in autism symptoms, IQ, language, and adaptive and social behaviors than the community intervention group. The ESDM group and typical children showed a shorter Nc latency and increased cortical activation (decreased α power and increased θ power) when viewing faces, whereas the community intervention group showed the opposite pattern (shorter latency event-related potential [ERP] and greater cortical activation when viewing objects). Greater cortical activation while viewing faces was associated with improved social behavior. Conclusions This was the first trial to demonstrate that early behavioral intervention is associated with normalized patterns of brain activity, which is associated with improvements in social behavior, in young children with autism spectrum disorder. PMID:23101741

  10. Early Intervention Experiences of Families of Children with an Autism Spectrum Disorder: A Qualitative Pilot Study

    ERIC Educational Resources Information Center

    Grygas Coogle, Christan; Guerette, Amy R.; Hanline, Mary Frances

    2013-01-01

    The purpose of this study was to obtain an understanding of the unique experiences of families who have a young child at risk for or identified with an autism spectrum disorder and their experiences with early intervention. Thirty-nine parents of children with or at risk for an autism spectrum disorder receiving Part C services in a state in the…

  11. A case of infantile osteopetrosis: The radioclinical features with literature update.

    PubMed

    El-Sobky, Tamer Ahmed; Elsobky, Ezzat; Sadek, Ismaiel; Elsayed, Solaf M; Khattab, Mohamed Fawzy

    2016-06-01

    Osteopetrosis is a rare hereditary metabolic bone disorder characterized by generalized skeletal sclerosis caused by a defect in bone resorption and remodelling. Infantile autosomal recessive osteopetrosis is one of three subtypes of osteopetrosis and the most severe form. The correct and early diagnosis of infantile osteopetrosis is important for management of complications and for future genetic counselling. Diagnosis is largely based on clinical and radiographic evaluation, confirmed by gene testing where applicable. Therefore, in this case study the classical clinical and radiological signs of a boy with infantile osteopetrosis will be presented with a comprehensive literature update. The differentiating signs from other causes of hereditary osteosclerosing dysplasias are discussed. This case study and review of available literature show that there tends to be a highly unique clinical and skeletal radiographic pattern of affection in infantile osteopetrosis. Although tremendous advances have been made in the elucidation of the genetic defect of osteopetrosis over the past years, the role of accurate clinical and radiological assessment remains an important contributor to the diagnosis of infantile osteopetrosis.

  12. Relationship between early motor milestones and severity of restricted and repetitive behaviors in children and adolescents with autism spectrum disorder.

    PubMed

    Uljarević, Mirko; Hedley, Darren; Alvares, Gail A; Varcin, Kandice J; Whitehouse, Andrew J O

    2017-06-01

    This study explored the relationships between the later age of achievement of early motor milestones, current motor atypicalities (toe walking), and the severity of restricted and repetitive behaviors (RRBs) in individuals with autism spectrum disorder (ASD). Parents of 147 children and adolescents with ASD (M age  = 8.09 years, SD = 4.28; 119 males) completed an early developmental milestones questionnaire and the Social Responsiveness Scale as a measure of Insistence on Sameness (IS) and Repetitive Mannerisms (RM). Two hierarchical regression analyses were conducted to test whether RM and IS behaviors were predicted by early motor milestones, or current toe walking. The final model predicting RM accounted for 15% of the variance (F = 3.02, p = .009), with toe walking as a unique and independent predictor of RM scores (t = 3.568, p = .001). The final model predicting IS accounted for 19.1% of variance in IS scores (F = 4.045, p = .001), with chronological age (CA) (t = 2.92, p = .004), age when first standing (t = 2.09, p = .038), and toe walking (t = 2.53, p = .013) as unique independent predictors. Toe walking (t = 2.4, p = .018) and age when first sitting (t = 2.08, p = .04) predicted the severity of RRBs on the Autism Diagnostic Observation Schedule (F = 2.334, p = .036). Our study replicates previous findings on the relationship between concurrent motor impairments and RRBs, and provides the first evidence for the association between RRBs and age of attainment of early motor milestones. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1163-1168. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  13. Brief Report: Agreement between Parents and Day-Care Professionals on Early Symptoms Associated with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Larsen, Kenneth; Aasland, Astrid; Diseth, Trond H.

    2018-01-01

    Early identification of Autism Spectrum Disorders (ASD) has the potential to elicit effective early intervention, improving children's level of functioning and developmental trajectories as well as reducing parental stress. Multiple sources of information, including several informants may facilitate early identification. This study examined the…

  14. Cortical Thickness Change in Autism during Early Childhood

    PubMed Central

    Smith, Elizabeth; Thurm, Audrey; Greenstein, Deanna; Farmer, Cristan; Swedo, Susan; Giedd, Jay; Raznahan, Armin

    2016-01-01

    Structural magnetic resonance imaging (MRI) scans at high spatial resolution can detect potential foci of early brain dysmaturation in children with autism spectrum disorders (ASD). In addition, comparison between MRI and behavior measures over time can identify patterns of brain change accompanying specific outcomes. We report structural MRI data from two time points for a total of 84 scans in children with ASD and 30 scans in typical controls (mean age time one=4.1 years, mean age at time two=6.6 years). Surface-based cortical morphometry and linear mixed effects models were used to link changes in cortical anatomy to both diagnostic status and individual differences in changes in language and autism severity. Compared to controls, children with ASD showed accelerated gray matter volume gain with age, which was driven by a lack of typical age-related cortical thickness (CT) decrease within ten cortical regions involved in language, social cognition and behavioral control. Greater expressive communication gains with age in children with ASD were associated with greater CT gains in a set of right hemisphere homologues to dominant language cortices, potentially identifying a compensatory system for closer translational study. PMID:27061356

  15. Scoping the evidence for EarlyBird and EarlyBird Plus, two United Kingdom-developed parent education training programmes for autism spectrum disorder.

    PubMed

    Dawson-Squibb, John-Joe; Davids, Eugene Lee; de Vries, Petrus J

    2018-03-01

    EarlyBird and EarlyBird Plus are parent education and training programmes designed by the UK National Autistic Society in 1997 and 2003, having been delivered to more than 27,000 families in 14 countries. These group-based programmes aim to (1) support parents immediately after diagnosis of autism spectrum disorder, (2) empower parents, encouraging a positive perception of their child's autism spectrum disorder and (3) help parents establish good practice. In the absence of any previous comprehensive review, we performed a scoping review of all peer-reviewed publications on EarlyBird/EarlyBird Plus. A search was conducted between February and June 2016 using EbscoHost, Sabinet, SAGE Journals, Directory of Open Access Journals, BioMed Central, Scopus, ScienceDirect and grey literature. Two reviewers independently screened titles and abstracts for inclusion. In total, 18 articles were identified: 16 from the United Kingdom and 2 from New Zealand. We reviewed the context, study populations, design, outcome measures, whether focus was on parental perception, parental change or child changes and programme feasibility. Strong parental support for the acceptability but lower level evidence of efficacy of EarlyBird/EarlyBird Plus was found. Future research should consider randomised controlled trials. There is no research on EarlyBird/EarlyBird Plus in low-resource settings; therefore, we recommend broader feasibility evaluation of EarlyBird/EarlyBird Plus including accessibility, cultural appropriateness and scalability.

  16. Early behavioral intervention is associated with normalized brain activity in young children with autism.

    PubMed

    Dawson, Geraldine; Jones, Emily J H; Merkle, Kristen; Venema, Kaitlin; Lowy, Rachel; Faja, Susan; Kamara, Dana; Murias, Michael; Greenson, Jessica; Winter, Jamie; Smith, Milani; Rogers, Sally J; Webb, Sara J

    2012-11-01

    A previously published randomized clinical trial indicated that a developmental behavioral intervention, the Early Start Denver Model (ESDM), resulted in gains in IQ, language, and adaptive behavior of children with autism spectrum disorder. This report describes a secondary outcome measurement from this trial, EEG activity. Forty-eight 18- to 30-month-old children with autism spectrum disorder were randomized to receive the ESDM or referral to community intervention for 2 years. After the intervention (age 48 to 77 months), EEG activity (event-related potentials and spectral power) was measured during the presentation of faces versus objects. Age-matched typical children were also assessed. The ESDM group exhibited greater improvements in autism symptoms, IQ, language, and adaptive and social behaviors than the community intervention group. The ESDM group and typical children showed a shorter Nc latency and increased cortical activation (decreased α power and increased θ power) when viewing faces, whereas the community intervention group showed the opposite pattern (shorter latency event-related potential [ERP] and greater cortical activation when viewing objects). Greater cortical activation while viewing faces was associated with improved social behavior. This was the first trial to demonstrate that early behavioral intervention is associated with normalized patterns of brain activity, which is associated with improvements in social behavior, in young children with autism spectrum disorder. Copyright © 2012 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  17. 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.

  18. Trends and Topics in Early Intensive Behavioral Interventions for Toddlers with Autism

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Tureck, Kimberly; Turygin, Nicole; Beighley, Jennifer; Rieske, Robert

    2012-01-01

    The use of applied behavior analysis (ABA) to treat persons with autism goes back several decades. Many specific target behaviors and intervention strategies have been developed. In the last two decades the most heavily studied of these methods has been Early Intensive Behavioral Interventions (EIBI). This package of ABA methods is unique in two…

  19. Advancing Early Detection of Autism Spectrum Disorder by Applying an Integrated Two-Stage Screening Approach

    ERIC Educational Resources Information Center

    Oosterling, Iris J.; Wensing, Michel; Swinkels, Sophie H.; van der Gaag, Rutger Jan; Visser, Janne C.; Woudenberg, Tim; Minderaa, Ruud; Steenhuis, Mark-Peter; Buitelaar, Jan K.

    2010-01-01

    Background: Few field trials exist on the impact of implementing guidelines for the early detection of autism spectrum disorders (ASD). The aims of the present study were to develop and evaluate a clinically relevant integrated early detection programme based on the two-stage screening approach of Filipek et al. (1999), and to expand the evidence…

  20. Early Markers of Autism Spectrum Disorders in Infants and Toddlers Prospectively Identified in the Social Attention and Communication Study

    ERIC Educational Resources Information Center

    Barbaro, Josephine; Dissanayake, Cheryl

    2013-01-01

    The Social Attention and Communication Study involved the successful implementation of developmental surveillance of the early markers of autism spectrum disorders in a community-based setting. The objective in the current study was to determine the most discriminating and predictive markers of autism spectrum disorders used in the Social…

  1. Assessing Early Implementation of State Autism Insurance Mandates

    ERIC Educational Resources Information Center

    Baller, Julia Berlin; Barry, Colleen L.; Shea, Kathleen; Walker, Megan M.; Ouellette, Rachel; Mandell, David S.

    2016-01-01

    In the United States, health insurance coverage for autism spectrum disorder treatments has been historically limited. In response, as of 2015, 40 states and Washington, DC, have passed state autism insurance mandates requiring many health plans in the private insurance market to cover autism diagnostic and treatment services. This study examined…

  2. Brief Report: Can Metrics of Reporting Bias Enhance Early Autism Screening Measures?

    ERIC Educational Resources Information Center

    Taylor, Cora M.; Vehorn, Alison; Noble, Hylan; Weitlauf, Amy S.; Warren, Zachary E.

    2014-01-01

    The goal of the current study was to develop and pilot the utility of two simple internal response bias metrics, over-reporting and under-reporting, in terms of additive clinical value within common screening practices for early detection of autism spectrum disorder risk. Participants were caregivers and children under 36 months of age (n = 145)…

  3. Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample

    ERIC Educational Resources Information Center

    Parr, Jeremy R.; Le Couteur, Ann; Baird, Gillian; Rutter, Michael; Pickles, Andrew; Fombonne, Eric; Bailey, Anthony J.

    2011-01-01

    The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred…

  4. Infantile botulism.

    PubMed

    Gay, C T; Marks, W A; Riley, H D; Bodensteiner, J B; Hamza, M; Noorani, P A; Bobele, G B

    1988-04-01

    We present the first two known cases of infantile botulism in Oklahoma. The first case was due to type B toxin; the second was due to type A toxin. Both cases demonstrate most of the classic features of what now appears to be the most common form of botulism. Infantile botulism is an underrecognized but reversible cause of hypotonia. In most cases, the prognosis is excellent with institution of appropriate supportive care. The recognition of cranial nerve palsies or a history of constipation should raise the suspicion of infantile botulism. Aminoglycoside antibiotics and other agents that may precipitate or exacerbate neuromuscular blockade should be used with extreme caution in hypotonic infants until the cause of the hypotonia is clearly identified.

  5. Alterations in Sociability and Functional Brain Connectivity Caused by Early-Life Seizures is Reversed by Bumetanide

    PubMed Central

    Holmes, Gregory L.; Tian, Chengju; Hernan, Amanda E.; Flynn, Sean; Camp, Devon; Barry, Jeremy

    2015-01-01

    There is a well-described association between infantile epilepsy and pervasive cognitive and behavioral deficits, including a high incidence of autism spectrum disorders. Despite the robustness of the relationship between early-life seizures and the development of autism, the pathophysiological mechanism by which this occurs has not been explored. As a result of increasing evidence that autism is a disorder of brain connectivity we hypothesized that early-life seizures would interrupt normal brain connectivity during brain maturation and result in an autistic phenotype. Normal rat pups underwent recurrent flurothyl-induced seizures from postnatal (P) day 5-14 and then tested, along with controls, for developmental alterations of development brain oscillatory activity from P18-25. Specifically we wished to understand how normal changes in rhythmicity in and between brain regions change as a function of age and if this rhythmicity is altered or interrupted by early life seizures. In rat pups with early-life seizures, field recordings from dorsal and ventral hippocampus and prefrontal cortex demonstrated marked increase in coherence as well as a decrease in voltage correlation at all bandwidths compared to controls while there were minimal differences in total power and relative power spectral densities. Rats with early-life seizures had resulting impairment in the sociability and social novelty tests but demonstrated no evidence of increased activity or generalized anxiety as measured in the open field. In addition, rats with early-life seizures had lower seizure thresholds than controls, indicating long-standing alterations in the excitatory/inhibition balance. Bumetanide, a pharmacological agent that blocks the activity of NKCC1 and induces a significant shift of ECl toward more hyperpolarized values, administration at the time of the seizures precluded the subsequent abnormalities in coherence and voltage correlation and resulted in normal sociability and seizure

  6. Early Assessment of Autism.

    ERIC Educational Resources Information Center

    Snijders-Oomen, Nan

    1979-01-01

    Problems with the diagnosis of autism in young children with hearing impairment are pointed out and data on nine autistic children (one to four years old) are presented and compared with the general behavior of nonspeaking children. (SBH)

  7. Implementation of early intensive behavioural intervention for children with autism in Switzerland.

    PubMed

    Studer, Nadja; Gundelfinger, Ronnie; Schenker, Tanja; Steinhausen, Hans-Christoph

    2017-01-21

    There is a major gap between the US and most European countries regarding the implementation of early intensive behavioural intervention (EIBI) for children with autism. The present paper reports on the current status of EIBI in Switzerland and on the effectiveness of EIBI under clinical conditions in a Swiss pilot project. The paper combines a narrative report of the care system for children with autism in Switzerland and an initial evaluation of EIBI as implemented in the Department of Child and Adolescent Psychiatry, University of Zurich. The current situation of the implementation of EIBI for children with autism in Switzerland is characterized by marked deficits in its acceptance. Major reasons include insufficient governmental approval and lacking legal and financial support. In addition, ignorance among health care providers and educational professionals has contributed to this situation precluding that children with autism receive the most beneficial assistance. The authors have initiated and been working in an intervention centre offering EIBI for a decade and report on their experience with the implementation of EIBI. Based on their clinical practice, they document that EIBI also works efficiently under ordinary mental health service conditions. EIBI needs to be implemented more intensively in Switzerland. Although the effects of EIBI as implemented in Zurich are promising, the results are not as pronounced as under controlled research conditions.

  8. An fMRI-study of locally oriented perception in autism: altered early visual processing of the block design test.

    PubMed

    Bölte, S; Hubl, D; Dierks, T; Holtmann, M; Poustka, F

    2008-01-01

    Autism has been associated with enhanced local processing on visual tasks. Originally, this was based on findings that individuals with autism exhibited peak performance on the block design test (BDT) from the Wechsler Intelligence Scales. In autism, the neurofunctional correlates of local bias on this test have not yet been established, although there is evidence of alterations in the early visual cortex. Functional MRI was used to analyze hemodynamic responses in the striate and extrastriate visual cortex during BDT performance and a color counting control task in subjects with autism compared to healthy controls. In autism, BDT processing was accompanied by low blood oxygenation level-dependent signal changes in the right ventral quadrant of V2. Findings indicate that, in autism, locally oriented processing of the BDT is associated with altered responses of angle and grating-selective neurons, that contribute to shape representation, figure-ground, and gestalt organization. The findings favor a low-level explanation of BDT performance in autism.

  9. Imitating actions on objects in early-onset and regressive autism: Effects and implications of task characteristics on performance

    PubMed Central

    Rogers, Sally J.; Young, Gregory S.; Cook, Ian; Giolzetti, Angelo; Ozonoff, Sally

    2010-01-01

    This study was designed to examine the nature of object imitation performance in early autism. We hypothesized that imitation would be relatively preserved when behaviors on objects resulted in salient instrumental effects. We designed tasks in which, in one condition, the motor action resulted in a salient, meaningful effect on an object, whereas in the other condition, the same action resulted in a less salient effect because of differing object characteristics. The motor aspects of the tasks did not vary across conditions. Four participant groups of 2- to 5-year-olds were examined: 17 children with early-onset autism, 24 children with regressive onset autism, 22 children with developmental delays, and 22 children with typical development. Groups were matched on nonverbal skills, and differences in verbal development were examined as a moderator of imitative ability. Results revealed an interaction of group by condition, with the combined autism group failing more tasks than the combined comparison groups, and failing more tasks in the less salient condition than in the more salient condition, as hypothesized. Analyses of autism subgroups revealed these effects were primarily because of the regression onset group. Accuracy of motor performance was examined by analyzing errors. Among children passing imitative acts, there were no group differences and no condition effects in the number, type, or pattern of performance errors. Among children passing the tasks, the group with autism did not demonstrate more emulation errors (imitating the goal but not the means) than other groups. There was no evidence that either motor or attentional aspects of the tasks contributed to the poorer imitative performance of the children with autism. PMID:20102648

  10. Does the Brief Observation of Social Communication Change Help Moving Forward in Measuring Change in Early Autism Intervention Studies?

    ERIC Educational Resources Information Center

    Pijl, Mirjam K. J.; Rommelse, Nanda N. J.; Hendriks, Monica; De Korte, Manon W. P.; Buitelaar, Jan K.; Oosterling, Iris J.

    2018-01-01

    The field of early autism research is in dire need of outcome measures that adequately reflect subtle changes in core autistic behaviors. This article compares the ability of a newly developed measure, the Brief Observation of Social Communication Change (BOSCC), and the Autism Diagnostic Observation Schedule (ADOS) to detect changes in core…

  11. Development of T-STAT for Early Autism Screening

    ERIC Educational Resources Information Center

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

    2013-01-01

    This study's purpose was to modify the Screening Tool for Autism in Two-Year-Olds (STAT) into a Taiwanese version called T-STAT. Study 1 included 15 children with Autism and 15 children with Developmental Delay (DD) or language impairment (LI) aged between 24 and 35 months. Study 2 had 77 young children with Autism, PDD-NOS, or DD/LI as a…

  12. Latent class analysis of early developmental trajectory in baby siblings of children with autism.

    PubMed

    Landa, Rebecca J; Gross, Alden L; Stuart, Elizabeth A; Bauman, Margaret

    2012-09-01

    Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Sibs-A (N = 204) were assessed with the Mullen Scales of Early Learning from age 6 to 36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (N = 52); non-ASD social/communication delay (broader autism phenotype; BAP; N = 31); and unaffected (N = 121). Child-specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within-class proportions of children assigned to each diagnostic classification. A 4-class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above-average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Results support a category of ASD that involves slowing in early non-social development. Receptive language and motor development is vulnerable to early delay in sibs-A with and without ASD outcomes. Non-ASD sibs-A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non-ASD sibs-A. © 2012 The Authors. Journal of Child Psychology and Psychiatry © 2012 Association for Child and Adolescent Mental Health.

  13. Latent Class Analysis of Early Developmental Trajectory in Baby Siblings of Children with Autism

    PubMed Central

    Landa, Rebecca J.; Gross, Alden L.; Stuart, Elizabeth A.; Bauman, Margaret

    2012-01-01

    Background Siblings of children with autism (sibs-A) are at increased genetic risk for autism spectrum disorders (ASD) and milder impairments. To elucidate diversity and contour of early developmental trajectories exhibited by sibs-A, regardless of diagnostic classification, latent class modeling was used. Methods Sibs-A (n=204) were assessed with the Mullen Scales of Early Learning from age 6–36 months. Mullen T scores served as dependent variables. Outcome classifications at age 36 months included: ASD (n=52); non-ASD social/communication delay (broader autism phenotype; BAP) (n=31); and unaffected (n=121). Child-specific patterns of performance were studied using latent class growth analysis. Latent class membership was then related to diagnostic outcome through estimation of within-class proportions of children assigned to each diagnostic classification. Results A 4-class model was favored. Class 1 represented accelerated development and consisted of 25.7% of the sample, primarily unaffected children. Class 2 (40.0% of the sample), was characterized by normative development with above-average nonverbal cognitive outcome. Class 3 (22.3% of the sample) was characterized by receptive language, and gross and fine motor delay. Class 4 (12.0% of the sample), was characterized by widespread delayed skill acquisition, reflected by declining trajectories. Children with an outcome diagnosis of ASD were spread across Classes 2, 3, and 4. Conclusions Results support a category of ASD that involves slowing in early non-social development. Receptive language and motor development is vulnerable to early delay in sibs-A with and without ASD outcomes. Non-ASD sibs-A are largely distributed across classes depicting average or accelerated development. Developmental trajectories of motor, language, and cognition appear independent of communication and social delays in non-ASD sibs-A. PMID:22574686

  14. Early Start Denver Model for Young Children with Autism: Promoting Language, Learning, and Engagement

    ERIC Educational Resources Information Center

    Rogers, Sally J.; Dawson, Geraldine

    2009-01-01

    From leading authorities, this state-of-the-art manual presents the Early Start Denver Model (ESDM), the first comprehensive, empirically tested intervention specifically designed for toddlers and preschoolers with autism. Supported by the principles of developmental psychology and applied behavior analysis, ESDM's intensive teaching interventions…

  15. Social visual engagement in infants and toddlers with autism: Early developmental transitions and a model of pathogenesis

    PubMed Central

    Klin, Ami; Shultz, Sarah; Jones, Warren

    2014-01-01

    Efforts to determine and understand the causes of autism are currently hampered by a large disconnect between recent molecular genetics findings that are associated with the condition and the core behavioral symptoms that define the condition. In this perspective piece, we propose a systems biology framework to bridge that gap between genes and symptoms. The framework focuses on basic mechanisms of socialization that are highly-conserved in evolution and are early-emerging in development. By conceiving of these basic mechanisms of socialization as quantitative endophenotypes, we hope to connect genes and behavior in autism through integrative studies of neurodevelopmental, behavioral, and epigenetic changes. These changes both lead to and are led by the accomplishment of specific social adaptive tasks in a typical infant's life. However, based on recent research that indicates that infants later diagnosed with autism fail to accomplish at least some of these tasks, we suggest that a narrow developmental period, spanning critical transitions from reflexive, subcortically-controlled visual behavior to interactional, cortically-controlled and social visual behavior be prioritized for future study. Mapping epigenetic, neural, and behavioral changes that both drive and are driven by these early transitions may shed a bright light on the pathogenesis of autism. PMID:25445180

  16. Social visual engagement in infants and toddlers with autism: early developmental transitions and a model of pathogenesis.

    PubMed

    Klin, Ami; Shultz, Sarah; Jones, Warren

    2015-03-01

    Efforts to determine and understand the causes of autism are currently hampered by a large disconnect between recent molecular genetics findings that are associated with the condition and the core behavioral symptoms that define the condition. In this perspective piece, we propose a systems biology framework to bridge that gap between genes and symptoms. The framework focuses on basic mechanisms of socialization that are highly-conserved in evolution and are early-emerging in development. By conceiving of these basic mechanisms of socialization as quantitative endophenotypes, we hope to connect genes and behavior in autism through integrative studies of neurodevelopmental, behavioral, and epigenetic changes. These changes both lead to and are led by the accomplishment of specific social adaptive tasks in a typical infant's life. However, based on recent research that indicates that infants later diagnosed with autism fail to accomplish at least some of these tasks, we suggest that a narrow developmental period, spanning critical transitions from reflexive, subcortically-controlled visual behavior to interactional, cortically-controlled and social visual behavior be prioritized for future study. Mapping epigenetic, neural, and behavioral changes that both drive and are driven by these early transitions may shed a bright light on the pathogenesis of autism. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. The Relationship between Early Neural Responses to Emotional Faces at Age 3 and Later Autism and Anxiety Symptoms in Adolescents with Autism

    ERIC Educational Resources Information Center

    Neuhaus, Emily; Jones, Emily J. H.; Barnes, Karen; Sterling, Lindsey; Estes, Annette; Munson, Jeff; Dawson, Geraldine; Webb, Sara J.

    2016-01-01

    Both autism spectrum (ASD) and anxiety disorders are associated with atypical neural and attentional responses to emotional faces, differing in affective face processing from typically developing peers. Within a longitudinal study of children with ASD (23 male, 3 female), we hypothesized that early ERPs to emotional faces would predict concurrent…

  18. Disrupted neural synchronization in toddlers with autism

    PubMed Central

    Dinstein, Ilan; Pierce, Karen; Eyler, Lisa; Solso, Stephanie; Malach, Rafael; Behrmann, Marlene; Courchesne, Eric

    2011-01-01

    Summary Autism is often described as a disorder of neural synchronization. However, it is unknown how early in development synchronization abnormalities emerge and whether they are related to the development of early autistic behavioral symptoms. Here, we show that disrupted synchronization is evident in the spontaneous cortical activity of naturally sleeping toddlers with autism, but not in toddlers with language delay or typical development. Toddlers with autism exhibited significantly weaker inter-hemispheric synchronization (i.e. weak “functional connectivity” across the two hemispheres) in putative language areas. The strength of synchronization was positively correlated with verbal ability, negatively correlated with autism severity, and enabled identification of the majority of autistic toddlers (72%) with high accuracy (84%). Disrupted cortical synchronization, therefore, appears to be a notable characteristic of autism neurophysiology that is evident at very early stages of autism development. PMID:21689606

  19. Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder.

    PubMed

    Dawson, Geraldine

    2008-01-01

    Advances in the fields of cognitive and affective developmental neuroscience, developmental psychopathology, neurobiology, genetics, and applied behavior analysis have contributed to a more optimistic outcome for individuals with autism spectrum disorder (ASD). These advances have led to new methods for early detection and more effective treatments. For the first time, prevention of ASD is plausible. Prevention will entail detecting infants at risk before the full syndrome is present and implementing treatments designed to alter the course of early behavioral and brain development. This article describes a developmental model of risk, risk processes, symptom emergence, and adaptation in ASD that offers a framework for understanding early brain plasticity in ASD and its role in prevention of the disorder.

  20. Relation between early motor delay and later communication delay in infants at risk for autism.

    PubMed

    Bhat, A N; Galloway, J C; Landa, R J

    2012-12-01

    Motor delays have been reported in retrospective studies of young infants who later develop Autism Spectrum Disorders (ASDs). In this study, we prospectively compared the gross motor development of a cohort at risk for ASDs; infant siblings of children with ASDs (AU sibs) to low risk typically developing (LR) infants. 24 AU sibs and 24 LR infants were observed at 3 and 6 months using a standardized motor measure, the Alberta Infant Motor Scale (AIMS). In addition, as part of a larger study, the AU sibs also received a follow-up assessment to determine motor and communication performance at 18 months using the Mullen Scales of Early Learning. Significantly more AU sibs showed motor delays at 3 and 6 months than LR infants. The majority of the AU sibs showed both early motor delays and later communication delays. Small sample size and limited follow-up. Early motor delays are more common in AU sibs than LR infants. Communication delays later emerged in 67-73% of the AU sibs who had presented with early motor delays. Overall, early motor delays may be predictive of future communication delays in children at risk for autism. Copyright © 2012 Elsevier Inc. All rights reserved.

  1. Relationship between early motor delay and later communication delay in infants at risk for autism

    PubMed Central

    Bhat, A. N.; Galloway, J. C.; Landa, R. J.

    2012-01-01

    Background Motor delays have been reported in retrospective studies of young infants who later develop Autism Spectrum Disorders (ASDs). Objective In this study, we prospectively compared the gross motor development of a cohort at risk for ASDs; infant siblings of children with ASDs (AU sibs) to low risk typically developing (LR) infants. Methods 24 AU sibs and 24 LR infants were observed at 3 and 6 months using a standardized motor measure, the Alberta Infant Motor Scale (AIMS). In addition, as part of a larger study, the AU sibs also received a follow-up assessment to determine motor and communication performance at 18 months using the Mullen Scales of Early Learning. Results Significantly more AU sibs showed motor delays at 3 and 6 months than LR infants. The majority of the AU sibs showed both early motor delays and later communication delays. Limitations Small sample size and limited follow-up. Conclusions Early motor delays are more common in infant AU sibs than LR infants. Communication delays later emerged in 67–73% of the AU sibs who had presented with early motor delays. Overall, early motor delays may be predictive of future communication delays in children at risk for autism. PMID:22982285

  2. 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

  3. Gratification disorder ("infantile masturbation"): a review.

    PubMed

    Nechay, A; Ross, L M; Stephenson, J B P; O'Regan, M

    2004-03-01

    Little has been published on gratification disorder ("infantile masturbation") in early childhood. To expand on the profile of patients diagnosed with this condition. Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972-2002. Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments.

  4. Gratification disorder ("infantile masturbation"): a review

    PubMed Central

    Nechay, A; Ross, L; Stephenson, J; O'Regan, M

    2004-01-01

    Background: Little has been published on gratification disorder ("infantile masturbation") in early childhood. Aims: To expand on the profile of patients diagnosed with this condition. Methods: Retrospective case note review; Fraser of Allander Neurosciences Unit paediatric neurology outpatient department 1972–2002. Results: Thirty one patients were diagnosed (11 males and 20 females). Twenty one were referred for evaluation of possible epileptic seizures or epilepsy. The median age at first symptoms was 10.5 months (range 3 months to 5 years 5 months). The median age at diagnosis was 24.5 months (range 5 months to 8 years). The median frequency of events was seven times per week, and the median length 2.5 minutes. Events occurred in any situation in 10 children, and in a car seat in 11. Types of behaviour manifested were dystonic posturing in 19, grunting in 10, rocking in 9, eidetic imagery in 7, and sweating in 6. Two children had been previously diagnosed as having definite epilepsy. In nine cases home video was invaluable in allowing confident diagnosis. Conclusion: Gratification disorder, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. Home video recording of events often prevents unnecessary investigations and treatments. PMID:14977696

  5. Interventions and Adaptations for Children with Autism Spectrum Disorder in Inclusive Early Childhood Settings

    ERIC Educational Resources Information Center

    Brodzeller, Katharine L.; Ottley, Jennifer R.; Jung, Jeesun; Coogle, Christan G.

    2018-01-01

    The inclusive education of children with disabilities is considered best practice, yet many early childhood educators feel unprepared to deliver appropriate instruction for children with disabilities and often require supports to successfully meet the children's unique needs. Young children experiencing autism spectrum disorder are being diagnosed…

  6. Cross-Cultural Evaluation of the Autism Detection in Early Childhood (ADEC) in Mexico

    ERIC Educational Resources Information Center

    Hedley, Darren; Young, Robyn; Angelica, Maria; Gallegos, Juarez; Salazar, Carlos, Marcin

    2010-01-01

    A Spanish translation of the Autism Detection in Early Childhood (ADEC-SP) was administered to 115 children aged 15-73 months in Mexico. In Phase 1, children with Autistic Disorder (AD), a non-Pervasive Developmental Disorder (PDD) diagnosis or typical development were assessed with the ADEC-SP by a clinician blind to the child's diagnostic…

  7. Early gross motor skills predict the subsequent development of language in children with autism spectrum disorder.

    PubMed

    Bedford, Rachael; Pickles, Andrew; Lord, Catherine

    2016-09-01

    Motor milestones such as the onset of walking are important developmental markers, not only for later motor skills but also for more widespread social-cognitive development. The aim of the current study was to test whether gross motor abilities, specifically the onset of walking, predicted the subsequent rate of language development in a large cohort of children with autism spectrum disorder (ASD). We ran growth curve models for expressive and receptive language measured at 2, 3, 5 and 9 years in 209 autistic children. Measures of gross motor, visual reception and autism symptoms were collected at the 2 year visit. In Model 1, walking onset was included as a predictor of the slope of language development. Model 2 included a measure of non-verbal IQ and autism symptom severity as covariates. The final model, Model 3, additionally covaried for gross motor ability. In the first model, parent-reported age of walking onset significantly predicted the subsequent rate of language development although the relationship became non-significant when gross motor skill, non-verbal ability and autism severity scores were included (Models 2 & 3). Gross motor score, however, did remain a significant predictor of both expressive and receptive language development. Taken together, the model results provide some evidence that early motor abilities in young children with ASD can have longitudinal cross-domain influences, potentially contributing, in part, to the linguistic difficulties that characterise ASD. Autism Res 2016, 9: 993-1001. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.

  8. Early social, imitation, play, and language abilities of young non-autistic siblings of children with autism.

    PubMed

    Toth, Karen; Dawson, Geraldine; Meltzoff, Andrew N; Greenson, Jessica; Fein, Deborah

    2007-01-01

    Studies are needed to better understand the broad autism phenotype in young siblings of children with autism. Cognitive, adaptive, social, imitation, play, and language abilities were examined in 42 non-autistic siblings and 20 toddlers with no family history of autism, ages 18-27 months. Siblings, as a group, were below average in expressive language and composite IQ, had lower mean receptive language, adaptive behavior, and social communication skills, and used fewer words, distal gestures, and responsive social smiles than comparison children. Additionally, parents reported social impairments in siblings by 13 months of age. These results suggest that the development of young non-autistic siblings is affected at an early age and, thus, should be closely monitored, with appropriate interventions implemented as needed.

  9. Early Social, Imitation, Play, and Language Abilities of Young Non-Autistic Siblings of Children with Autism

    PubMed Central

    Dawson, Geraldine; Meltzoff, Andrew N.; Greenson, Jessica; Fein, Deborah

    2008-01-01

    Studies are needed to better understand the broad autism phenotype in young siblings of children with autism. Cognitive, adaptive, social, imitation, play, and language abilities were examined in 42 non-autistic siblings and 20 toddlers with no family history of autism, ages 18–27 months. Siblings, as a group, were below average in expressive language and composite IQ, had lower mean receptive language, adaptive behavior, and social communication skills, and used fewer words, distal gestures, and responsive social smiles than comparison children. Additionally, parents reported social impairments in siblings by 13 months of age. These results suggest that the development of young non-autistic siblings is affected at an early age and, thus, should be closely monitored, with appropriate interventions implemented as needed. PMID:17216560

  10. Sexually Dimorphic Responses to Early Adversity: Implications for Affective Problems and Autism Spectrum Disorder

    PubMed Central

    Davis, Elysia Poggi; Pfaff, Donald

    2014-01-01

    During gestation, development proceeds at a pace that is unmatched by any other stage of the lifecycle. For these reason the human fetus is particularly susceptible not only to organizing influences, but also to pathogenic disorganizing influences. Growing evidence suggests that exposure to prenatal adversity leads to neurological changes that underlie lifetime risks for mental illness. Beginning early in gestation, males and females show differential developmental trajectories and responses to stress. It is likely that sex-dependent organization of neural circuits during the fetal period influences differential vulnerability to mental health problems. We consider in this review evidence that sexually dimorphic responses to early life stress are linked to two developmental disorders: affective problems (greater female prevalence) and autism spectrum disorder (greater male prevalence). Recent prospective studies illustrating the neurodevelopmental consequences of fetal exposure to stress and stress hormones for males and females are considered here. Plausible biological mechanisms including the role of the sexually differentiated placenta are discussed. We consider in this review evidence that sexually dimorphic responses to early life stress are linked to two sets of developmental disorders: affective problems (greater female prevalence) and autism spectrum disorders (greater male prevalence). PMID:25038479

  11. Infantilism: Theoretical Construct and Operationalization

    ERIC Educational Resources Information Center

    Sabelnikova, Y. V.; Khmeleva, N. L.

    2018-01-01

    The aim of this article is to define and operationalize the construct of infantilism. The methods of theoretical research involve analysis and synthesis. Age and content criteria are analyzed for childhood and adulthood. Infantile traits in an adult are described. Results: The characteristics of adult infantilism in the modern world are defined,…

  12. Cost Offset Associated With Early Start Denver Model for Children With Autism.

    PubMed

    Cidav, Zuleyha; Munson, Jeff; Estes, Annette; Dawson, Geraldine; Rogers, Sally; Mandell, David

    2017-09-01

    To determine the effect of the Early Start Denver Model (ESDM) for treatment of young children with autism on health care service use and costs. We used data from a randomized trial that tested the efficacy of the ESDM, which is based on developmental and applied behavioral analytic principles and delivered by trained therapists and parents, for 2 years. Parents were interviewed about their children's service use every 6 months from the onset of the intervention to follow-up (age 6 years). The sample for this study consisted of 39 children with autism who participated in the original randomized trial at age 18 to 30 months, and were also assessed at age 6 years. Of this sample, 21 children were in the ESDM group, and 18 children were in the community care (COM) group. Reported services were categorized and costed by applying unit hourly costs. Annualized service use and costs during the intervention and post intervention for the two study arms were compared. During the intervention, children who received the ESDM had average annualized total health-related costs that were higher by about $14,000 than those of children who received community-based treatment. The higher cost of ESDM was partially offset during the intervention period because children in the ESDM group used less applied behavior analysis (ABA)/early intensive behavioral intervention (EIBI) and speech therapy services than children in the comparison group. In the postintervention period, compared with children who had earlier received treatment as usual in community settings, children in the ESDM group used less ABA/EIBI, occupational/physical therapy, and speech therapy services, resulting in significant cost savings in the amount of about $19,000 per year per child. Costs associated with ESDM treatment were fully offset within a few years after the intervention because of reductions in other service use and associated costs. Early Characteristics of Autism; http://clinicaltrials.gov/; NCT0009415

  13. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model.

    PubMed

    Dawson, Geraldine; Rogers, Sally; Munson, Jeffrey; Smith, Milani; Winter, Jamie; Greenson, Jessica; Donaldson, Amy; Varley, Jennifer

    2010-01-01

    To conduct a randomized, controlled trial to evaluate the efficacy of the Early Start Denver Model (ESDM), a comprehensive developmental behavioral intervention, for improving outcomes of toddlers diagnosed with autism spectrum disorder (ASD). Forty-eight children diagnosed with ASD between 18 and 30 months of age were randomly assigned to 1 of 2 groups: (1) ESDM intervention, which is based on developmental and applied behavioral analytic principles and delivered by trained therapists and parents for 2 years; or (2) referral to community providers for intervention commonly available in the community. Compared with children who received community-intervention, children who received ESDM showed significant improvements in IQ, adaptive behavior, and autism diagnosis. Two years after entering intervention, the ESDM group on average improved 17.6 standard score points (1 SD: 15 points) compared with 7.0 points in the comparison group relative to baseline scores. The ESDM group maintained its rate of growth in adaptive behavior compared with a normative sample of typically developing children. In contrast, over the 2-year span, the comparison group showed greater delays in adaptive behavior. Children who received ESDM also were more likely to experience a change in diagnosis from autism to pervasive developmental disorder, not otherwise specified, than the comparison group. This is the first randomized, controlled trial to demonstrate the efficacy of a comprehensive developmental behavioral intervention for toddlers with ASD for improving cognitive and adaptive behavior and reducing severity of ASD diagnosis. Results of this study underscore the importance of early detection of and intervention in autism.

  14. Green Space and Childhood Autism

    EPA Science Inventory

    Autism, a group of complex neurodevelopmental disorders typically identified in early childhood, affects more than 3 million people in the U.S. To date, the cause of autism is unclear. It is believed that autism results from a combination of genetic and environmental factors incl...

  15. Injuries in Children with Autism Spectrum Disorder: Study to Explore Early Development (SEED)

    ERIC Educational Resources Information Center

    DiGuiseppi, Carolyn; Levy, Susan E.; Sabourin, Katherine R.; Soke, Gnakub N.; Rosenberg, Steven; Lee, Li-Ching; Moody, Eric; Schieve, Laura A.

    2018-01-01

    This study examined caregiver-reported medically-attended injuries among 30-68 month old children with autism spectrum disorder (ASD) compared to general population (POP) and non-ASD developmental disorders (DD) controls in the Study to Explore Early Development. Injuries were common in ASD cases (32.3%) as well as POP (30.2%) and DD (27.8%)…

  16. Early Behavioral Intervention Is Associated with Normalized Brain Activity in Young Children with Autism

    ERIC Educational Resources Information Center

    Dawson, Geraldine; Jones, Emily J. H.; Merkle, Kristen; Venema, Kaitlin; Lowy, Rachel; Faja, Susan; Kamara, Dana; Murias, Michael; Greenson, Jessica; Winter, Jamie; Smith, Milani; Rogers, Sally J.; Webb, Sara J.

    2012-01-01

    Objective: A previously published randomized clinical trial indicated that a developmental behavioral intervention, the Early Start Denver Model (ESDM), resulted in gains in IQ, language, and adaptive behavior of children with autism spectrum disorder. This report describes a secondary outcome measurement from this trial, EEG activity. Method:…

  17. Omid Early Intervention Resource Kit for Children with Autism Spectrum Disorders and Their Families

    ERIC Educational Resources Information Center

    Samadi, Sayyed Ali; Mahmoodizadeh, Ameneh

    2014-01-01

    Omid early intervention resource kit containing information booklets on autism spectrum disorders (ASD) and related issues, five packs of tangible selected playthings and communication facilitating aids was developed and evaluated with 65 Iranian parents. Beside a pretest before the resource kit deliverance, parents in the control group took part…

  18. Predictors of Outcomes in Autism Early Intervention: Why Don’t We Know More?

    PubMed Central

    Vivanti, Giacomo; Prior, Margot; Williams, Katrina; Dissanayake, Cheryl

    2014-01-01

    Response to early intervention programs in autism is variable. However, the factors associated with positive versus poor treatment outcomes remain unknown. Hence the issue of which intervention/s should be chosen for an individual child remains a common dilemma. We argue that lack of knowledge on “what works for whom and why” in autism reflects a number of issues in current approaches to outcomes research, and we provide recommendations to address these limitations. These include: a theory-driven selection of putative predictors; the inclusion of proximal measures that are directly relevant to the learning mechanisms demanded by the specific educational strategies; the consideration of family characteristics. Moreover, all data on associations between predictor and outcome variables should be reported in treatment studies. PMID:24999470

  19. Asperger's syndrome and autism: comparison of early history and outcome.

    PubMed

    Szatmari, P; Bartolucci, G; Bremner, R

    1989-12-01

    The authors compared children with Asperger syndrome (AS) with high-functioning autistic children and psychiatric outpatient controls on measures of early history and outcome. In terms of their early history, the autistic probands showed more social impairment, a higher frequency of echolalia and pronoun reversal, and a more restricted range of activities than the AS group. Cluster analysis suggested refinements to the diagnostic criteria, which resulted in larger differences between the groups on these early history measures. In terms of their outcome, the autistic probands spent more time in special education classes but developed fewer accessory psychiatric symptoms than the AS children. It was clear, however, that there were no substantive, qualitative differences between the AS and autistic groups, indicating that AS should be considered a mild form of high-functioning autism. The inclusion of AS among the autistic spectrum of disorders has implications both for aetiological studies and for prevalence estimates of the pervasive developmental disorders.

  20. How autism became autism

    PubMed Central

    Evans, Bonnie

    2013-01-01

    This article argues that the meaning of the word ‘autism’ experienced a radical shift in the early 1960s in Britain which was contemporaneous with a growth in epidemiological and statistical studies in child psychiatry. The first part of the article explores how ‘autism’ was used as a category to describe hallucinations and unconscious fantasy life in infants through the work of significant child psychologists and psychoanalysts such as Jean Piaget, Lauretta Bender, Leo Kanner and Elwyn James Anthony. Theories of autism were then associated both with schizophrenia in adults and with psychoanalytic styles of reasoning. The closure of institutions for ‘mental defectives’ and the growth in speech therapy services in the 1960s and 1970s encouraged new models for understanding autism in infants and children. The second half of the article explores how researchers such as Victor Lotter and Michael Rutter used the category of autism to reconceptualize psychological development in infants and children via epidemiological studies. These historical changes have influenced the form and function of later research into autism and related conditions. PMID:24014081

  1. Outdoor environment, ozone, radionuclide-associated aerosols and incidences of infantile eczema in Minsk, Belarus.

    PubMed

    Belugina, I N; Yagovdik, N Z; Belugina, O S; Belugin, S N

    2018-05-06

    The early occurrence of atopic dermatitis in infants may be influenced by urban air pollution. The aim of this study was to determine the relationship between incidences of infantile eczema in children under 2 years of age and urban outdoor environmental factors. A 11-year population-based study was conducted in retrospective design. The age/gender-adjusted incidence rates of infantile eczema were determined using the data of outpatient visits. We analysed 1965 cases with atopic dermatitis including infantile eczema in relation to the annual means of outdoor monitoring data from 2005 through 2015 in Minsk. Logistic regression and principal component analysis were performed to determine association between the annual means of air pollutants, meteorological variables and incidences of infantile eczema. Higher mean annual carbon monoxide, ammonia, formaldehyde, lead, particulate matter and ground-level ozone were associated with high incidence rates of infantile eczema both in boys and girls. Higher nitrogen dioxide was associated with high incidence rates of infantile eczema in girls 1-2 years of age and boys 0-2 years of age. There were identified by principal component analysis five combinations of pollutants and meteorological factors. High incidence rates of infantile eczema were associated with the combinations contained higher levels of air pollutants and ultraviolet index, or lower β-activity of the radionuclide-associated aerosols. The higher phenol and formaldehyde levels the higher incidence rates of infantile eczema were observed among boys 0-1 years of age and girls 1-2 years of age. The higher total column ozone with lower lead level was associated with low incidence rates of infantile eczema among boys and girls 1-2 years of age. Urban outdoor air pollutants and their combination with meteorological conditions may impact onset of infantile eczema in both genders. © 2018 European Academy of Dermatology and Venereology.

  2. Assessing progress and outcome of early intensive behavioral intervention for toddlers with autism.

    PubMed

    MacDonald, Rebecca; Parry-Cruwys, Diana; Dupere, Sally; Ahearn, William

    2014-12-01

    Intensive behavioral intervention for young children diagnosed with autism can produce large gains in social, cognitive, and language development. Although several studies have identified behaviors that are possible indicators of best outcome, changes in performance are typically measured using norm-referenced standardized scores referencing overall functioning level rather than via repeated observational measures of autism-specific deficits (i.e., social behavior). In the current study, 83 children with autism (CWA), aged 1, 2 and 3 years, and 58 same-aged typically developing children (TDC) were directly observed in the areas of cognitive skills, joint attention (JA), play, and stereotypic behavior using a measure called the Early Skills Assessment Tool (ESAT; MacDonald et al., 2006). CWA were assessed at entry into an EIBI program and again after 1 year of treatment. Changes in performance were compared pre- and post-treatment as well as to the normative data by age. Results indicate significant gains on the ESAT across all age groups with the greatest gains seen in the children who entered treatment prior to their second birthday. Increases were seen on direct measures of JA, play, imitation and language while decreases were seen in stereotypy regardless of level of performance at entry into EIBI. The ESAT, a direct measurement tool, served as a sensitive tool to measure changes in autism symptomatology following EIBI treatment. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Cost Comparison of Early Intensive Behavioral Intervention and Treatment as Usual for Children with Autism Spectrum Disorder in the Netherlands

    ERIC Educational Resources Information Center

    Peters-Scheffer, Nienke; Didden, Robert; Korzilius, Hubert; Matson, Johnny

    2012-01-01

    Early intensive behavioral intervention (EIBI) may result in improved cognitive, adaptive and social functioning and reductions in autism severity and behavioral problems in children with Autism Spectrum Disorder (ASD). For a subset of children, normal functioning may be the result. However, due to the intensity (20-40 h per week for 3 years with…

  4. Atypical Lexical/Semantic Processing in High-Functioning Autism Spectrum Disorders without Early Language Delay

    ERIC Educational Resources Information Center

    Kamio, Yoko; Robins, Diana; Kelley, Elizabeth; Swainson, Brook; Fein, Deborah

    2007-01-01

    Although autism is associated with impaired language functions, the nature of semantic processing in high-functioning pervasive developmental disorders (HFPDD) without a history of early language delay has been debated. In this study, we aimed to examine whether the automatic lexical/semantic aspect of language is impaired or intact in these…

  5. Early proximal tibial valgus osteotomy as a very important prognostic factor in Thai children with infantile tibia vara.

    PubMed

    Kaewpornsawan, Kamolporn; Tangsataporn, Suksan; Jatunarapit, Ratiporn

    2005-10-01

    To find the effectiveness of the early surgery (2-3 years of age)as a very important prognostic factor affecting the outcomes in Thai children with infantile tibia vara and all the prognostic factors including the usefulness of arthrographic study in correcting the deformity. From 1994 to 2004, sixteen children aged average 3.61 years old (2.08-7.0) were treated in Siriraj Hospital and diagnosed as infantile tibia vara by Langenskiold radiographic staging were included in the present study and retrospectively reviewed with an average of 6.4 years follow up (range 6 month - 11.1 years). All cases were initially treated by surgery because of low compliance for brace or brace failure. They consisted of 3 boys and 13 girls. There were 24 legs including the bilateral involvement in 8 cases (2 boy and 6 girls). After arihrography, the midshaft fibular osteotomy was performed then the proximal tibial dome-shaped valgus osteotomy was done and fixed with 2 pins. The desired position was 12 degree knee valgus . The patients were divided in two groups, 1)group A,the successful group with the knee becoming normal without any deformity after single osteotomy, 2)group B,the recurrent group with recurrence of the varus deformity required further corrective osteotomies to make normal axis of the knee. All variables were analyzed and compared between group A and group B. The general characteristics and radiographic findings were recorded in 1)age, 2)sex, 3)side, 4)weight in kilogram and in percentage of normal or overweight(obesity) compared with the standard Thai weight chart, 5)tibiofemoral angle (TFA) pre and postoperative treatment, 6) metaphyseal diaphyseal angle (MDA), 7)the medial physeal slope angle (MPS, 8)The preoperative arthrographic articulo-diaphyseal angle (ADA), 9.arthrographic articulo-medial physeal angle (AMPA). There were 14 legs in group A and the remaining 10 legs were in group B (average 2.4 operations). All cases healed in good alignment of the legs without

  6. How can clinicians detect and treat autism early? Methodological trends of technology use in research

    PubMed Central

    Bölte, S; Bartl-Pokorny, KD; Jonsson, U; Berggren, S; Zhang, D; Kostrzewa, E; Falck-Ytter, T; Einspieler, C; Pokorny, FB; Jones, EJH; Roeyers, H; Charman, T; Marschik, PB

    2018-01-01

    We reviewed original research papers that used quantifiable technology to detect early autism spectrum disorder (ASD) and identified 376 studies from 34 countries from 1965-2013. Publications have increased significantly since 2000, with most coming from the USA. Electroencephalogram, magnetic resonance imaging and eye-tracking were the most frequently used technologies. Conclusion The use of quantifiable technology to detect early ASD has increased in recent decades, but has had limited impact on early detection and treatment. Further scientific developments are anticipated and we hope that they will increasingly be used in clinical practice for early ASD screening, diagnosis and intervention. PMID:26479859

  7. Early Intervention System for Preschool Children with Autism in the Community: The DISCOVERY Approach in Yokohama, Japan.

    ERIC Educational Resources Information Center

    Honda, Hideo; Shimizu, Yasuo

    2002-01-01

    This article reports on DISCOVERY, a conceptual model for a clinical system of early detection and early intervention in cases of autism that has been implemented in Yokohama, Japan. Longitudinal data from 49 children who participated in a program during 1987-1990 indicate 32 were still being followed in 1999. (Contains references.) (Author/CR)

  8. Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report.

    PubMed

    Kurian, Mary; Korff, Christian M; Ranza, Emmanuelle; Bernasconi, Andrea; Lübbig, Anja; Nangia, Srishti; Ramelli, Gian Paolo; Wohlrab, Gabriele; Nordli, Douglas R; Bast, Thomas

    2018-01-01

    In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during infancy and a predominance of fever sensitive seizures occurring in clusters. Cognitive impairment was noted in four out of five patients. Radiological evidence of cortical malformations was present in all cases and, in two patients, validated by histology. Sanger sequencing and Multiplex Ligation-dependent Probe Amplification analysis of PCDH19 revealed pathogenic variants in four patients. In one patient, array comparative genomic hybridization showed a microdeletion encompassing PCDH19. We propose molecular testing and analysis of PCDH19 in patients with pharmacoresistant epilepsy, with onset in early infancy, seizures in clusters, and fever sensitivity. Structural lesions are to be searched in patients with PCDH19 pathogenic variants. Further, PCDH19 analysis should be considered in epilepsy surgery evaluation even in the presence of cerebral structural lesions. Focal cortical malformations and monogenic epilepsy syndromes may coexist. Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures. © 2017 Mac Keith Press.

  9. Autism spectrum disorder and autistic traits in the Avon Longitudinal Study of Parents and Children: precursors and early signs.

    PubMed

    Bolton, Patrick F; Golding, Jean; Emond, Alan; Steer, Colin D

    2012-03-01

    To chart the emergence of precursors and early signs of autism spectrum disorder (ASD) and autistic traits in the Avon Longitudinal Study of Parents and Children, a prospective longitudinal cohort study of the surviving offspring of 14,541 pregnant women from southwestern England with an expected delivery date between April 1991 and December 1992. Parents' contemporaneous reports of their infant's development (241 questionnaire responses collected up to 30 months of age) were examined in relation to the diagnosis of autism spectrum disorder by age 11 years (n = 86) and a measure of autistic traits, derived by factor analysis. Among the children later diagnosed with ASD, concerns about vision and hearing were more often reported in the first year, and differences in social, communication, and fine motor skills were evident from 6 months of age. Repetitive behaviors and differences in play, imitation, and feeding habits were reported in the second year. Differences in temperament emerged at 24 months of age and bowel habit by 30 months. All of these early signs were strongly associated with the presence of autistic traits in the rest of the population and these differences were often evident in the first year of development. Over the first 30 months of development, the best predictors of both later ASD and autistic traits included the Social Achievement and Communication scores from the Denver Developmental Screening Test, measures of communicative skills (Vocabulary and Combines Words) from the MacArthur Infant Communicative Development Inventories, and a repetitive behavior score. Precursors, early signs, and other developmental differences were reported in the first year of development among children from the general population who later developed autism spectrum disorder and subtler autistic traits. Other differences emerged and unfolded as development progressed. The findings confirm the long-held suspicion that early differences underscore the multifaceted

  10. Cost Comparison of Early Intensive Behavioral Intervention and Special Education for Children with Autism

    ERIC Educational Resources Information Center

    Chasson, Gregory S.; Harris, Gerald E.; Neely, Wendy J.

    2007-01-01

    The financial implications of the increased prevalence of autism, though rarely discussed, will be extremely important to society. We compared the costs associated with 18 years of special education to the costs associated with the implementation of an average of 3 years of Discrete Trial Training as an Early Intensive Behavioral Intervention…

  11. Infantile botulism: pitfalls in electrodiagnosis.

    PubMed

    Sheth, R D; Lotz, B P; Hecox, K E; Waclawik, A J

    1999-03-01

    Botulism in infants, unless recognized early, is associated with high mortality and morbidity. The diagnosis is suspected when infants present with sudden onset of weakness, respiratory failure, and constipation and is confirmed by demonstration of botulinum toxin in stool several weeks later. Electrodiagnosis allows quick and reliable confirmation of botulism. Low-amplitude compound muscle action potentials, tetanic or post-tetanic facilitation, and the absence of post-tetanic exhaustion support the diagnosis. Two infants with confirmed botulism did not exhibit the characteristic electrodiagnostic features, demonstrating the pitfalls in electrodiagnosis of infantile botulism.

  12. Modeling Early Cortical Serotonergic Deficits in Autism

    PubMed Central

    Boylan, Carolyn B.; Blue, Mary E.; Hohmann, Christine F.

    2007-01-01

    Autism is a developmental brain disorder characterized by deficits in social interaction, language and behavior. Brain imaging studies demonstrate increased cerebral cortical volumes and micro- and macroscopic neuroanatomic changes in children with this disorder. Alterations in forebrain serotonergic function may underlie the neuroanatomic and behavioral features of autism. Serotonin is involved in neuronal growth and plasticity and these actions are likely mediated via serotonergic and glutamatergic receptors. Few animal models of autism have been described that replicate both etiology and pathophysiology. We report here on a selective serotonin (5-HT) depletion model of this disorder in neonatal mice that mimics neurochemical and structural changes in cortex and, in addition, displays a behavioral phenotype consistent with autism. Newborn male and female mice were depleted of forebrain 5-HT with injections of the serotonergic neurotoxin, 5,7-dihydroxytryptamine (5,7-DHT), into the bilateral medial forebrain bundle (mfb). Behavioral testing of these animals as adults revealed alterations in social, sensory and stereotypic behaviors. Lesioned mice showed significantly increased cortical width. Serotonin immunocytochemistry showed a dramatic long-lasting depletion of 5-HT containing fibers in cerebral cortex until postnatal day (PND) 60. Autoradiographic binding to high affinity 5-HT transporters was significantly but transiently reduced in cerebral cortex of 5,7-DHT-depleted mice. AMPA glutamate receptor binding was decreased at PND 15. We hypothesize that increased cerebral cortical volume and sensorimotor, cognitive and social deficits observed in both 5-HT-depleted animals and in individuals with autism, may be the result of deficiencies in timely axonal pruning to key cerebral cortical areas. PMID:17034875

  13. Modeling early cortical serotonergic deficits in autism.

    PubMed

    Boylan, Carolyn B; Blue, Mary E; Hohmann, Christine F

    2007-01-10

    Autism is a developmental brain disorder characterized by deficits in social interaction, language and behavior. Brain imaging studies demonstrate increased cerebral cortical volumes and micro- and macro-scopic neuroanatomic changes in children with this disorder. Alterations in forebrain serotonergic function may underlie the neuroanatomic and behavioral features of autism. Serotonin is involved in neuronal growth and plasticity and these actions are likely mediated via serotonergic and glutamatergic receptors. Few animal models of autism have been described that replicate both etiology and pathophysiology. We report here on a selective serotonin (5-HT) depletion model of this disorder in neonatal mice that mimics neurochemical and structural changes in cortex and, in addition, displays a behavioral phenotype consistent with autism. Newborn male and female mice were depleted of forebrain 5-HT with injections of the serotonergic neurotoxin, 5,7-dihydroxytryptamine (5,7-DHT), into the bilateral medial forebrain bundle (mfb). Behavioral testing of these animals as adults revealed alterations in social, sensory and stereotypic behaviors. Lesioned mice showed significantly increased cortical width. Serotonin immunocytochemistry showed a dramatic long-lasting depletion of 5-HT containing fibers in cerebral cortex until postnatal day (PND) 60. Autoradiographic binding to high affinity 5-HT transporters was significantly but transiently reduced in cerebral cortex of 5,7-DHT-depleted mice. AMPA glutamate receptor binding was decreased at PND 15. We hypothesize that increased cerebral cortical volume and sensorimotor, cognitive and social deficits observed in both 5-HT-depleted animals and in individuals with autism, may be the result of deficiencies in timely axonal pruning to key cerebral cortical areas.

  14. The Differentiation of Childhood Psychoses: An Analysis of Checklists for 2,218 Psychotic Children

    ERIC Educational Resources Information Center

    Rimland, Bernard

    1971-01-01

    Rimland's Diagnostic Checklist for Behavior-Disturbed Children, Form E-2, a checklist method of diagnosing early infantile autism, is described and statistics cited to show Form E-2 effective in differentiating truly autistic from autistic-type children. (KW)

  15. Autism.

    PubMed

    Parr, Jeremy

    2010-01-07

    Evidence for the efficacy of treatments for autism has improved in recent years. In this systematic review the evidence for both drug and non-drug treatments is appraised and clinical guidance is provided for their use. We conducted a systematic review and aimed to answer the following clinical questions: What are the effects of early intensive multidisciplinary intervention programmes in children with autism? What are the effects of dietary interventions in children with autism? What are the effects of drug treatments in children with autism? What are the effects of non-drug treatments in children with autism? We searched: Medline, Embase, The Cochrane Library, and other important databases up to May 2009 (Clinical evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from relevant organisations such as the US Food and Drug Administration (FDA) and the UK Medicines and Healthcare products Regulatory Agency (MHRA). We found 30 systematic reviews, RCTs, or observational studies that met our inclusion criteria. We performed a GRADE evaluation of the quality of evidence for interventions. In this systematic review we present information relating to the effectiveness and safety of the following interventions: applied behavioural analysis; auditory integration training; Autism Preschool Programme; casein-free diet; chelation; Child's Talk programme; cognitive behavioural therapy; digestive enzymes; EarlyBird programme; facilitated communication; Floortime therapy; gluten-free diet; immunoglobulins; melatonin; memantine; methylphenidate; More Than Words programme; music therapy; olanzapine; omega-3 fish oil; picture exchange communication system; Portage scheme; probiotics; relationship development interventions; risperidone; secretin; selective serotonin reuptake inhibitors (SSRIs); sensory integration training; social stories; social skills training; Son-Rise programme; TEACCH

  16. Occupational Therapy's Role with Autism

    MedlinePlus

    Fact Sheet Occupational Therapy’s Role with Autism Autism is a lifelong condition associated with a varied course from early childhood through adulthood. Occupational therapy practitioners are distinctly qualified to ...

  17. Brief Report: Early Social Communication Behaviors in the Younger Siblings of Children with Autism

    ERIC Educational Resources Information Center

    Goldberg, Wendy A.; Jarvis, Kelly L.; Osann, Kathryn; Laulhere, Tracy M.; Straub, Carol; Thomas, Erin; Filipek, Pauline; Spence, M. Anne

    2005-01-01

    The early social and communicative development of very young siblings of children with autism spectrum disorder (ASD) is the focus of the current study. Three groups of children were included: (1) young children diagnosed with ASD, (2) younger siblings in families with a somewhat older child with ASD, and (3) young typically developing children.…

  18. Infantile Autism and Computerized Tomography Brain-Scan Findings: Specific versus Nonspecific Abnormalities.

    ERIC Educational Resources Information Center

    Balottin, Umberto; And Others

    1989-01-01

    The study of computerized tomography brain-scan findings with 45 autistic and 19 control subjects concluded that autism is nonspecifically associated with brain-scan abnormalities, and that other nonorganic, as well as organic, factors should be taken into account. (Author/DB)

  19. Motor skills and calibrated autism severity in young children with autism spectrum disorder.

    PubMed

    MacDonald, Megan; Lord, Catherine; Ulrich, Dale A

    2014-04-01

    In addition to the core characteristics of autism spectrum disorder (ASD), motor skill deficits are present, persistent, and pervasive across age. Although motor skill deficits have been indicated in young children with autism, they have not been included in the primary discussion of early intervention content. One hundred fifty-nine young children with a confirmed diagnosis of ASD (n = 110), PDD-NOS (n = 26), and non-ASD (n = 23) between the ages of 14-33 months participated in this study.1 The univariate general linear model tested the relationship of fine and gross motor skills and social communicative skills (using calibrated autism severity scores). Fine motor and gross motor skills significantly predicted calibrated autism severity (p < .05). Children with weaker motor skills have greater social communicative skill deficits. Future directions and the role of motor skills in early intervention are discussed.

  20. Does Theory of Mind Performance Differ in Children with Early-Onset and Regressive Autism?

    ERIC Educational Resources Information Center

    Matthews, Nicole L.; Goldberg, Wendy A.; Lukowski, Angela F.; Osann, Kathryn; Abdullah, Maryam M.; Ly, Agnes R.; Thorsen, Kara; Spence, M. Anne

    2012-01-01

    A deficit in theory of mind (ToM), or the ability to infer the mental states of others, has been implicated as one of the major characteristics of Autism Spectrum Disorder (ASD); however, little attention has been devoted to possible differences in ToM ability within ASD. The current study examined ToM performance in children with early-onset…

  1. Compulsive masturbation in infantile autism treated by mirtazapine.

    PubMed

    Albertini, Giorgio; Polito, Emilena; Sarà, Marco; Di Gennaro, Giancarlo; Onorati, Paolo

    2006-05-01

    This case report describes a child with a severe autistic syndrome worsened by hypersexual behavior consisting of compulsive masturbatory activity. Selective serotonin reuptake inhibitors have been reported to be beneficial in reducing hypersexual behaviors. A treatment with mirtazapine improved the entire clinical autistic picture with the disappearance of masturbation. This result suggests that selective serotonin reuptake inhibitors could be useful and promising tools in the treatment of hypersexual behaviors in children with autistic disorders. Moreover, the general, and in some ways unexpected, improvement of the social interaction, communication, and imagination, the dramatic reduction of aloof mannerisms, stereotypes, aggressiveness, and inappropriate emotional response to frustrations, as well as the first appearance of the pragmatic use of language and a strong impetus to emotional development disclosed a new spectrum of possible applications of these drugs, and mirtazapine in particular, suggesting the need for new and more extensive studies on the pharmacotherapy of autism.

  2. A Histologically Diagnosed Case with Infantile Osteopetrosis Complicated by Hypopituitarism

    PubMed Central

    Calkavur, Sebnem; Buyukinan, Muammer; Altay, Canan

    2015-01-01

    Malignant infantile osteopetrosis is a rarely seen severe disorder which appears early in life with general sclerosis of the skeleton. It is caused by functionally defective osteoclasts which fail to resorb bone. Affected infants can exhibit a wide spectrum of clinical manifestations including impaired hematopoiesis, hepatosplenomegaly, visual impairment, and hypocalcemia. With the exception of secondary hyperparathyroidism, involvement of the endocrine system seems to be quite rare. Hypopituitarism is defined as underproduction of the growth hormone in combination with deficiencies of other pituitary hormones. Any lesion that damages hypothalamus, pituitary stalk, or anterior pituitary can cause secondary hypopituitarism. In this report, we presented a rare combination of malignant infantile osteopetrosis and secondary hypopituitarism in a newborn who presented predominantly with endocrinological symptoms. This is the first case report of malignant infantile osteopetrosis accompanied by hypopituitarism secondary to sclerosis of the sella turcica. On the other hand, this is a very interesting case which was diagnosed based on histological examination of bone marrow biopsy specimens despite lack of any clinical suspicion. PMID:26576309

  3. Early gross motor skills predict the subsequent development of language in children with autism spectrum disorder

    PubMed Central

    Pickles, Andrew; Lord, Catherine

    2015-01-01

    Background: Motor milestones such as the onset of walking are important developmental markers, not only for later motor skills but also for more widespread social‐cognitive development. The aim of the current study was to test whether gross motor abilities, specifically the onset of walking, predicted the subsequent rate of language development in a large cohort of children with autism spectrum disorder (ASD). Methods: We ran growth curve models for expressive and receptive language measured at 2, 3, 5 and 9 years in 209 autistic children. Measures of gross motor, visual reception and autism symptoms were collected at the 2 year visit. In Model 1, walking onset was included as a predictor of the slope of language development. Model 2 included a measure of non‐verbal IQ and autism symptom severity as covariates. The final model, Model 3, additionally covaried for gross motor ability. Results: In the first model, parent‐reported age of walking onset significantly predicted the subsequent rate of language development although the relationship became non‐significant when gross motor skill, non‐verbal ability and autism severity scores were included (Models 2 & 3). Gross motor score, however, did remain a significant predictor of both expressive and receptive language development. Conclusions: Taken together, the model results provide some evidence that early motor abilities in young children with ASD can have longitudinal cross‐domain influences, potentially contributing, in part, to the linguistic difficulties that characterise ASD. Autism Res 2016, 9: 993–1001. © 2015 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research PMID:26692550

  4. Head Circumference as an Early Predictor of Autism Symptoms in Younger Siblings of Children with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Elder, Lauren M.; Dawson, Geraldine; Toth, Karen; Fein, Deborah; Munson, Jeff

    2008-01-01

    Siblings of children with autism have an increased risk for autism spectrum disorders (ASD). As children with autism often exhibit an atypical trajectory of head circumference (HC) growth, HC may be an indicator of vulnerability to autism. This study investigated whether infant siblings of children with ASD (n = 77) with an atypical trajectory of…

  5. Autism Spectrum Disorder Symptoms among Children Enrolled in the Study to Explore Early Development (SEED)

    ERIC Educational Resources Information Center

    Wiggins, Lisa D.; Levy, Susan E.; Daniels, Julie; Schieve, Laura; Croen, Lisa A.; DiGuiseppi, Carolyn; Blaskey, Lisa; Giarelli, Ellen; Lee, Li-Ching; Pinto-Martin, Jennifer; Reynolds, Ann; Rice, Catherine; Rosenberg, Cordelia Robinson; Thompson, Patrick; Yeargin-Allsopp, Marshalyn; Young, Lisa; Schendel, Diana

    2015-01-01

    This study examined the phenotypic profiles of children aged 30-68 months in the Study to Explore Early Development (SEED). Children classified as autism spectrum disorder (ASD), developmental delay (DD) with ASD symptoms, DD without ASD symptoms, and population comparison (POP) differed significantly from each other on cognitive, adaptive,…

  6. Early social-communicative and cognitive development of younger siblings of children with autism spectrum disorders.

    PubMed

    Stone, Wendy L; McMahon, Caitlin R; Yoder, Paul J; Walden, Tedra A

    2007-04-01

    To compare the early social-communicative development of younger siblings of children with autism spectrum disorders (ASDs) with that of younger siblings of children with typical development, using parental report and child-based measures. Group comparison. Vanderbilt University, between July 1, 2003, and July 31, 2006. Younger siblings of children with ASD (n = 64) and younger siblings of children with typical development (n = 42) between the ages of 12 and 23 months (mean, 16 months). Main Exposure Having a sibling with an ASD. Child-based measures included a cognitive assessment; an interactive screening tool assessing play, imitation, and communication; and a rating of autism symptoms. Parental report measures were an interview of social-communicative interactions and a questionnaire assessing language and communication skills. Younger siblings of children with ASD demonstrated weaker performance in nonverbal problem solving (mean difference [MD], 5.91; 95% confidence interval [CI], 2.48-9.34), directing attention (MD, 0.52; 95% CI, 0.07-0.97), understanding words (MD, 33.30; 95% CI, 3.11-63.48), understanding phrases (MD, 4.56; 95% CI, 1.85-7.27), gesture use (MD, 1.49; 95% CI, 0.51-2.47), and social-communicative interactions with parents (MD, 1.32; 95% CI, 0.27-2.37), and had increased autism symptoms (MD, 2.54; 95% CI, 1.05-4.03), relative to control siblings. A substantial minority of the ASD sibling group exhibited lower performance relative to controls. Significant correlations between child-based measures and parental reports assessing similar constructs were found (r = -0.74 to 0.53; P range, .000-.002). The weaker performance found for children in the ASD sibling group may represent early-emerging features of the broader autism phenotype, thus highlighting the importance of developmental surveillance for younger siblings.

  7. Does the Brief Observation of Social Communication Change help moving forward in measuring change in early autism intervention studies?

    PubMed

    Pijl, Mirjam Kj; Rommelse, Nanda Nj; Hendriks, Monica; De Korte, Manon Wp; Buitelaar, Jan K; Oosterling, Iris J

    2018-02-01

    The field of early autism research is in dire need of outcome measures that adequately reflect subtle changes in core autistic behaviors. This article compares the ability of a newly developed measure, the Brief Observation of Social Communication Change (BOSCC), and the Autism Diagnostic Observation Schedule (ADOS) to detect changes in core symptoms of autism in 44 toddlers. The results provide encouraging evidence for the Brief Observation of Social Communication Change as a candidate outcome measure, as reflected in sufficient inter- and intra-rater reliability, independency from other child characteristics, and sensitivity to capture change. Although the Brief Observation of Social Communication Change did not evidently outperform the Autism Diagnostic Observation Schedule on any of these quality criteria, the instrument may be better able to capture subtle, individual changes in core autistic symptoms. The promising findings warrant further study of this new instrument.

  8. Screening for Autism in Young Children: The Modified Checklist for Autism in Toddlers (M-Chat) and Other Measures

    ERIC Educational Resources Information Center

    Dumont-Mathieu, Thyde; Fein, Deborah

    2005-01-01

    The literature on the importance of early identification and early intervention for children with developmental disabilities such as autism continues to grow. The increased prevalence of autistic spectrum disorders has fostered research efforts on the development and validation of autism-specific screening instruments for use with young children.…

  9. Early Diagnosis of Autism Spectrum Disorder: Stability and Change in Clinical Diagnosis and Symptom Presentation

    ERIC Educational Resources Information Center

    Guthrie, Whitney; Swineford, Lauren B.; Nottke, Charly; Wetherby, Amy M.

    2013-01-01

    Background: Although a diagnosis of autism spectrum disorder (ASD) appears to be stable in children as young as age three, few studies have explored stability of a diagnosis in younger children. Predictive value of diagnostic tools for toddlers and patterns of symptom change are important considerations for clinicians making early diagnoses. Most…

  10. A Failure of Left Temporal Cortex to Specialize for Language Is an Early Emerging and Fundamental Property of Autism

    ERIC Educational Resources Information Center

    Eyler, Lisa T.; Pierce, Karen; Courchesne, Eric

    2012-01-01

    Failure to develop normal language comprehension is an early warning sign of autism, but the neural mechanisms underlying this signature deficit are unknown. This is because of an almost complete absence of functional studies of the autistic brain during early development. Using functional magnetic resonance imaging, we previously observed a trend…

  11. Cry, Baby, Cry: Expression of Distress As a Biomarker and Modulator in Autism Spectrum Disorder

    PubMed Central

    Hiroi, Noboru; Scattoni, Maria Luisa

    2017-01-01

    Abstract Background: Early diagnosis of autism spectrum disorder is critical, because early intensive treatment greatly improves its prognosis. Methods: We review studies that examined vocalizations of infants with autism spectrum disorder and mouse models of autism spectrum disorder as a potential means to identify autism spectrum disorder before the symptomatic elements of autism spectrum disorder emerge. We further discuss clinical implications and future research priorities in the field. Results: Atypical early vocal calls (i.e., cry) may represent an early biomarker for autism spectrum disorder (or at least for a subgroup of children with autism spectrum disorder), and thus can assist with early detection. Moreover, cry is likely more than an early biomarker of autism spectrum disorder; it is also an early causative factor in the development of the disorder. Specifically, atypical crying, as recently suggested, might induce a “self-generated environmental factor” that in turn, influences the prognosis of the disorder. Because atypical crying in autism spectrum disorder is difficult to understand, it may have a negative impact on the quality of care by the caregiver (see graphical abstract). Conclusions: Evidence supports the hypothesis that atypical vocalization is an early, functionally integral component of autism spectrum disorder. PMID:28204487

  12. Prenatal neurogenesis in autism spectrum disorders

    NASA Astrophysics Data System (ADS)

    Kaushik, Gaurav; Zarbalis, Konstantinos

    2016-03-01

    An ever-increasing body of literature describes compelling evidence that a subset of young children on the autism spectrum show abnormal cerebral growth trajectories. In these cases, normal cerebral size at birth is followed by a period of abnormal growth and starting in late childhood often by regression compared to unaffected controls. Recent work has demonstrated an abnormal increase in the number of neurons of the prefrontal cortex suggesting that cerebral size increase in autism is driven by excess neuronal production. In addition, some affected children display patches of abnormal laminar positioning of cortical projection neurons. As both cortical projection neuron numbers and their correct layering within the developing cortex requires the undisturbed proliferation of neural progenitors, it appears that neural progenitors lie in the center of the autism pathology associated with early brain overgrowth. Consequently, autism spectrum disorders associated with cerebral enlargement should be viewed as birth defects of an early embryonic origin with profound implications for their early diagnosis, preventive strategies, and therapeutic intervention.

  13. Infantile osteopetrosis with superimposed rickets.

    PubMed

    Gonen, Korcan Aysun; Yazici, Zeynep; Gokalp, Gokhan; Ucar, Ayse Kalyoncu

    2013-01-01

    Rickets is a complication of infantile osteopetrosis and pre-treatment recognition of this complication is important. To describe four children with infantile osteopetrosis complicated by rickets (osteopetrorickets) and review the relevant literature. Retrospective chart analysis of four infants with osteopetrorickets and a systematic review of the relevant literature. We saw five children with infantile osteopetrosis, of whom four had superimposed rickets, for a period of 12 years. The review of the literature (including the current four children), yielded 20 children with infantile osteopetrorickets. The children ranged in age from 2 months to 12 months. In all children, hepatosplenomegaly was found. Sixteen (80%) children had visual impairments and eight (40%) children had hearing impairments. Serum calcium-phosphorus product was less than 30 in 18 children (90%). Twelve children (60%) were hypocalcemic and 18 (90%) were hypophosphatemic. In all children, the radiological examination demonstrated diffuse bony sclerosis and metaphyseal splaying and fraying of long bones. Five children (25%) had pathological fracture of extremities and 15 (75%) had rachitic rosary. Rickets as a complication to infantile osteopetrosis is not uncommon. Skeletal roentgenograms are of critical importance in the diagnosis of both osteopetrosis and superimposed rickets.

  14. Implementing and evaluating early intervention for children with autism: Where are the gaps and what should we do?

    PubMed

    Vivanti, Giacomo; Kasari, Connie; Green, Jonathan; Mandell, David; Maye, Melissa; Hudry, Kristelle

    2018-01-01

    Despite recent advances, the evidence base supporting early intervention for young children with autism spectrum disorder (ASD) remains relatively sparse. The International Society for Autism Research (INSAR) recently sponsored a Special Interest Group (SIG) on Implementing and Evaluating Community-Based Early Intervention. Across three meetings, in 2015, 2016, and 2017, conveners of this SIG engaged >200 members to identify knowledge gaps and research priorities for moving the field forward. Here, we summarize the perspectives that emerged from group discussion at the SIG meetings as represented by scholars working actively in the field. Despite encouraging progress, critical gaps and research priorities were identified across all the stages of intervention development and testing from conceptualization to community implementation. Key issues include the need for (a) formal theories to guide early intervention development, evaluation, and implementation; and alignment of intervention goals with scientific knowledge and societal changes that have occurred in the decades since interventions were originally developed; (b) increased focus on feasibility of treatment procedures and alignment with stakeholder values during pilot evaluations; (c) use of research designs that allow for comparisons of different interventions and formats, analyses of active ingredients of treatment, and identification of moderators and mediators of outcome; (d) use of community-partnered participatory research to guide adaptation of intervention models to community settings; (e) inclusion of constructs related to implementation processes and outcomes in treatment trials and; (f) an iterative approach to the progression of knowledge from intervention development to implementation. Autism Res 2018, 11: 16-23. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. In this article, we summarize the themes discussed at the INSAR Special Interest Group (SIG) on Implementing

  15. The Relationship between Motor, Imitation, and Early Social Communication Skills in Children with Autism.

    PubMed

    Dadgar, Hooshang; Alaghband Rad, Javad; Soleymani, Zahra; Khorammi, Anahita; McCleery, Joe; Maroufizadeh, Saman

    2017-10-01

    Objective: Development of early social skills in children is a complex process. To understand this process, it is important to assess how strengths or weaknesses in other developmental domains may be affected by these skills. The present study aimed at investigating the association of motor skills and imitation ability with early social communication skills in children with autism spectrum disorder (ASD). Method: In this study, 20 children with ASD aged 3 to 5 years (M = 4.05, SD = 0.55) participated. All children were diagnosed as ASD based on the DSM-V criteria by an independent child psychiatrist. Additionally, Autism Diagnostic interview-Revised was used for subsequent diagnostic confirmation. Children were tested with Test of Gross Motor Development (TGMD-2), the Motor Imitation Scale (MIS), and the Early Social Communication Scales (ESCS). All examinations were videotaped for subsequent scoring. The relationship between these skills was estimated by Pearson correlation coefficient. Results: A significant and strong correlation was obtained between TGMD total score and imitation total score (r =.776; p <0.001). However, the relationship between MIS subscales and TGMD-2 locomotor subtest scores was not significant (P>0.05). A significant correlation was found between MIS and TGMD total scores with Initiating Joint Attention and Responding to Joint Attention (p≤0/025) as ESCS subscales. But MIS and TGMD total scores were not correlated with social interaction and responding to behavioral requests subscales. Conclusion: The results of the present study showed that indicated both imitation ability and motor function have an association with each other and with early social communication skills.

  16. The Relationship between Motor, Imitation, and Early Social Communication Skills in Children with Autism

    PubMed Central

    Dadgar, Hooshang; Alaghband Rad, Javad; Soleymani, Zahra; Khorammi, Anahita; McCleery, Joe; Maroufizadeh, Saman

    2017-01-01

    Objective: Development of early social skills in children is a complex process. To understand this process, it is important to assess how strengths or weaknesses in other developmental domains may be affected by these skills. The present study aimed at investigating the association of motor skills and imitation ability with early social communication skills in children with autism spectrum disorder (ASD). Method: In this study, 20 children with ASD aged 3 to 5 years (M = 4.05, SD = 0.55) participated. All children were diagnosed as ASD based on the DSM-V criteria by an independent child psychiatrist. Additionally, Autism Diagnostic interview-Revised was used for subsequent diagnostic confirmation. Children were tested with Test of Gross Motor Development (TGMD-2), the Motor Imitation Scale (MIS), and the Early Social Communication Scales (ESCS). All examinations were videotaped for subsequent scoring. The relationship between these skills was estimated by Pearson correlation coefficient. Results: A significant and strong correlation was obtained between TGMD total score and imitation total score (r =.776; p <0.001). However, the relationship between MIS subscales and TGMD-2 locomotor subtest scores was not significant (P>0.05). A significant correlation was found between MIS and TGMD total scores with Initiating Joint Attention and Responding to Joint Attention (p≤0/025) as ESCS subscales. But MIS and TGMD total scores were not correlated with social interaction and responding to behavioral requests subscales. Conclusion: The results of the present study showed that indicated both imitation ability and motor function have an association with each other and with early social communication skills. PMID:29472949

  17. Fragile Spectral and Temporal Auditory Processing in Adolescents with Autism Spectrum Disorder and Early Language Delay

    ERIC Educational Resources Information Center

    Boets, Bart; Verhoeven, Judith; Wouters, Jan; Steyaert, Jean

    2015-01-01

    We investigated low-level auditory spectral and temporal processing in adolescents with autism spectrum disorder (ASD) and early language delay compared to matched typically developing controls. Auditory measures were designed to target right versus left auditory cortex processing (i.e. frequency discrimination and slow amplitude modulation (AM)…

  18. Early deictic but not other gestures predict later vocabulary in both typical development and autism.

    PubMed

    Özçalışkan, Şeyda; Adamson, Lauren B; Dimitrova, Nevena

    2016-08-01

    Research with typically developing children suggests a strong positive relation between early gesture use and subsequent vocabulary development. In this study, we ask whether gesture production plays a similar role for children with autism spectrum disorder. We observed 23 18-month-old typically developing children and 23 30-month-old children with autism spectrum disorder interact with their caregivers (Communication Play Protocol) and coded types of gestures children produced (deictic, give, conventional, and iconic) in two communicative contexts (commenting and requesting). One year later, we assessed children's expressive vocabulary, using Expressive Vocabulary Test. Children with autism spectrum disorder showed significant deficits in gesture production, particularly in deictic gestures (i.e. gestures that indicate objects by pointing at them or by holding them up). Importantly, deictic gestures-but not other gestures-predicted children's vocabulary 1 year later regardless of communicative context, a pattern also found in typical development. We conclude that the production of deictic gestures serves as a stepping-stone for vocabulary development. © The Author(s) 2015.

  19. Prenatal Inflammation Linked to Autism Risk

    MedlinePlus

    ... Thursday, January 24, 2013 Prenatal inflammation linked to autism risk Maternal inflammation during early pregnancy may be related to an increased risk of autism in children, according to new findings supported by ...

  20. Federal Autism Activities: Agencies Are Encouraging Early Identification and Providing Services, and Recent Actions Could Improve Coordination. Report to Congressional Requesters. GAO-16-446

    ERIC Educational Resources Information Center

    US Government Accountability Office, 2016

    2016-01-01

    Research has shown that early intervention can greatly improve the development of a child with autism. Children with disabilities--including children with autism--can receive intervention services through the Individuals with Disabilities Education Act. Low income children may also receive intervention services through Medicaid or the State…

  1. Adenylosuccinate lyase (ADSL) and infantile autism: Absence of previously reported point mutation

    DOE Office of Scientific and Technical Information (OSTI.GOV)

    Fon, E.A.; Sarrazin, J.; Rouleau, G.A.

    Autism is a heterogeneous neuropsychiatric syndrome of unknown etiology. There is evidence that a deficiency in the enzyme adenylosuccinate lyase (ADSL), essential for de novo purine biosynthesis, could be involved in the pathogenesis of certain cases. A point mutation in the ADSL gene, resulting in a predicted serine-to-proline substitution and conferring structural instability to the mutant enzyme, has been reported previously in 3 affected siblings. In order to determine the prevalence of the mutation, we PCR-amplified the exon spanning the site of this mutation from the genomic DNA of patients fulfilling DSM-III-R criteria for autistic disorder. None of the 119more » patients tested were found to have this mutation. Furthermore, on preliminary screening using single-strand conformation polymorphism (SSCP), no novel mutations were detected in the coding sequence of four ADSL exons, spanning approximately 50% of the cDNA. In light of these findings, it appears that mutations in the ADSL gene represent a distinctly uncommon cause of autism. 12 refs., 2 figs.« less

  2. Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study.

    PubMed

    Barbaro, Josephine; Dissanayake, Cheryl

    2013-01-01

    The Social Attention and Communication Study involved the successful implementation of developmental surveillance of the early markers of autism spectrum disorders in a community-based setting. The objective in the current study was to determine the most discriminating and predictive markers of autism spectrum disorders used in the Social Attention and Communication Study at 12, 18 and 24 months of age, so that these could be used to identify children with autism spectrum disorders with greater accuracy. The percentage of 'yes/no' responses for each behavioural marker was compared between children with autistic disorder (n = 39), autism spectrum disorder (n = 50) and developmental and/or language delay (n = 20) from 12 to 24 months, with a logistic regression also conducted at 24 months. Across all ages, the recurring key markers of both autistic disorder and autism spectrum disorder were deficits in eye contact and pointing, and from 18 months, deficits in showing became an important marker. In combination, these behaviours, along with pretend play, were found to be the best group of predictors for a best estimate diagnostic classification of autistic disorder/autism spectrum disorder at 24 months. It is argued that the identified markers should be monitored repeatedly during the second year of life by community health-care professionals.

  3. Enhancing Collaboration between Occupational Therapists and Early Childhood Educators Working with Children on the Autism Spectrum

    ERIC Educational Resources Information Center

    Hart Barnett, Juliet E.; O'shaughnessy, Kaitlin

    2015-01-01

    Autism spectrum disorders (ASD) are on the rise. With this increase in prevalence and in related inclusive placements comes the need for research-based, collaborative, and high-quality early intervention strategies to promote the learning of children with ASD. Occupational therapists (OTs) are uniquely positioned to address many of the…

  4. Effects of Parent-Implemented Early Start Denver Model Intervention on Chinese Toddlers with Autism Spectrum Disorder: A Non-Randomized Controlled Trial.

    PubMed

    Zhou, Bingrui; Xu, Qiong; Li, Huiping; Zhang, Ying; Wang, Yi; Rogers, Sally J; Xu, Xiu

    2018-04-01

    To evaluate the effects of a 26-week, high-intensity, parent-implemented Early Start Denver Model (P-ESDM) intervention on developmental outcomes, severity of autism spectrum disorder (ASD), and parental stress of ASD toddlers in China. Subjects in P-ESDM group (n = 23) were recruited from 1.5- to 2.5-year-old toddlers who were screened positive in Xuhui and Minhang Districts and were diagnosed with ASD. A community (comparison) group of age-matched toddlers with ASD (n = 20) was recruited from other areas. Subjects of the P-ESDM group attended 1.5-hr parent coaching per week for 26 weeks, and those in the community group received interventions available from communities. Assessments were conducted at baseline (T1) and 26 weeks later (T2). After adjusting for baseline differences between the two groups, P-ESDM group demonstrated greater improvement than the community group in general development, especially in Language domain. Neither group demonstrated significant change in ASD severity, but the P-ESDM group showed greater improvement in social affect, parent-reported social communication and symbolic play than community group did. Finally, parents in P-ESDM group experienced decreased parenting stress while those in community group showed an opposite trend, though the differences did not reach significant association with the P-ESDM intervention. Chinese toddlers with ASD receiving 26 weeks of P-ESDM via regular coaching sessions showed significant greater improvement than those receiving community interventions in multiple aspects of development including social communications. These findings add support to the importance of providing early screening, diagnosis, and immediate referral for evidence-based interventions to improve outcome of young children with ASD. Autism Res 2018, 11: 654-666. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. The development of early screening and diagnosis of autism spectrum disorder (ASD) in

  5. Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.

    PubMed

    Saini, Arushi Gahlot; Sankhyan, Naveen; Singhi, Pratibha

    2016-07-01

    Classic late-infantile neuronal ceroid lipofuscinosis is characterized by progressive intellectual and motor deterioration, seizures, vision loss, and early death. Prominent chorea is an atypical feature and is rarely described in children. A four-year-old girl with seizures followed by a year-long progressive cognitive decline and a three month history of intermittent chorea leading to rapid motor deterioration. The onset of illness was marked by seizures occurring as generalized tonic-clonic seizures and myoclonic jerks. There was gradual regression of cognitive milestones with increasing forgetfulness and impaired quality and content of speech. Nine months later, she developed chorea. These movements were associated with clumsiness, incoordination, and progressive loss of motor milestones. She was unable to perform manual tasks or maintain antigravity posture resulting in unsteadiness and frequent falls. The movements were aggravated by action or excitement and were absent in sleep. Magnetic resonance imaging depicted diffuse cerebral and cerebellar atrophy. Sequencing analysis of TPP1 gene showed a novel, homozygous, splice site mutation c.89+1G>A which resulted in nil enzyme activity and a severe phenotype with onset of disease symptoms at an early age of three years. The presence of chorea in late-infantile neuronal ceroid lipofuscinoses is atypical but does not exclude the diagnosis of late-infantile neuronal ceroid lipofuscinoses, especially in children with psychomotor regression, seizures and diffuse brain atrophy. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Tipping the Balance of Autism Risk: Potential Mechanisms Linking Pesticides and Autism

    PubMed Central

    Hertz-Picciotto, Irva; Pessah, Isaac N.

    2012-01-01

    Background: Autism spectrum disorders (ASDs) have been increasing in many parts of the world and a portion of cases are attributable to environmental exposures. Conclusive replicated findings have yet to appear on any specific exposure; however, mounting evidence suggests gestational pesticides exposures are strong candidates. Because multiple developmental processes are implicated in ASDs during gestation and early life, biological plausibility is more likely if these agents can be shown to affect core pathophysiological features. Objectives: Our objectives were to examine shared mechanisms between autism pathophysiology and the effects of pesticide exposures, focusing on neuroexcitability, oxidative stress, and immune functions and to outline the biological correlates between pesticide exposure and autism risk. Methods: We review and discuss previous research related to autism risk, developmental effects of early pesticide exposure, and basic biological mechanisms by which pesticides may induce or exacerbate pathophysiological features of autism. Discussion: On the basis of experimental and observational research, certain pesticides may be capable of inducing core features of autism, but little is known about the timing or dose, or which of various mechanisms is sufficient to induce this condition. Conclusions: In animal studies, we encourage more research on gene × environment interactions, as well as experimental exposure to mixtures of compounds. Similarly, epidemiologic studies in humans with exceptionally high exposures can identify which pesticide classes are of greatest concern, and studies focused on gene × environment are needed to determine if there are susceptible subpopulations at greater risk from pesticide exposures. PMID:22534084

  7. Developing Undergraduate Coursework in Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Masterson, Tracy Loye; Dimitriou, Francine; Turko, Kristine; McPartland, James

    2014-01-01

    With rates of autism spectrum disorders (ASD) continuing to rise alongside improvements in early identification and treatment, service providers are in great demand. Providing undergraduate students with opportunities for education and applied experiences with autism spectrum disorders (ASD) can help fill a valuable niche in the autism community.…

  8. SYMPTOM PRESENTATIONS AND CLASSIFICATION OF AUTISM SPECTRUM DISORDER IN EARLY CHILDHOOD: APPLICATION TO THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD (DC:0-5).

    PubMed

    Soto, Timothy; Giserman Kiss, Ivy; Carter, Alice S

    2016-09-01

    Over the past 5 years, a great deal of information about the early course of autism spectrum disorder (ASD) has emerged from longitudinal prospective studies of infants at high risk for developing ASD based on a previously diagnosed older sibling. The current article describes early ASD symptom presentations and outlines the rationale for defining a new disorder, Early Atypical Autism Spectrum Disorder (EA-ASD) to accompany ASD in the new revision of the ZERO TO THREE Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0-5) (in press) alternative diagnostic classification manual. EA-ASD is designed to identify children who are 9 to 36 months of age presenting with a minimum of (a) two social-communication symptoms and (b) one repetitive and restricted behavior symptom as well as (c) evidence of impairment, with the intention of providing these children with appropriately tailored services and improving the likelihood of optimizing their development. © 2016 Michigan Association for Infant Mental Health.

  9. Symptomatic Autism in Childhood and Adolescence

    ERIC Educational Resources Information Center

    Easson, William M.

    1971-01-01

    The frequency of symptomatic autism in children with severe perceptual or intellectual handicaps is noted and early diagnosis and treatment urged to permit healthy child development. Highlighted are some common causes leading to symptomatic autism. (KW)

  10. Self-referenced processing, neurodevelopment and joint attention in autism.

    PubMed

    Mundy, Peter; Gwaltney, Mary; Henderson, Heather

    2010-09-01

    This article describes a parallel and distributed processing model (PDPM) of joint attention, self-referenced processing and autism. According to this model, autism involves early impairments in the capacity for rapid, integrated processing of self-referenced (proprioceptive and interoceptive) and other-referenced (exteroceptive) information. Measures of joint attention have proven useful in research on autism because they are sensitive to the early development of the 'parallel' and integrated processing of self- and other-referenced stimuli. Moreover, joint attention behaviors are a consequence, but also an organizer of the functional development of a distal distributed cortical system involving anterior networks including the prefrontal and insula cortices, as well as posterior neural networks including the temporal and parietal cortices. Measures of joint attention provide early behavioral indicators of atypical development in this parallel and distributed processing system in autism. In addition it is proposed that an early, chronic disturbance in the capacity for integrating self- and other-referenced information may have cascading effects on the development of self awareness in autism. The assumptions, empirical support and future research implications of this model are discussed.

  11. Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease.

    PubMed

    Zeng, Yin-Ting; Hwu, Wuh-Liang; Torng, Pao-Chuan; Lee, Ni-Chung; Shieh, Jeng-Yi; Lu, Lu; Chien, Yin-Hsiu

    2017-05-01

    Patients with infantile-onset Pompe disease (IOPD) can be treated by recombinant human acid alpha glucosidase (rhGAA) replacement beginning at birth with excellent survival rates, but they still commonly present with speech disorders. This study investigated the progress of speech disorders in these early-treated patients and ascertained the relationship with treatments. Speech disorders, including hypernasal resonance, articulation disorders, and speech intelligibility, were scored by speech-language pathologists using auditory perception in seven early-treated patients over a period of 6 years. Statistical analysis of the first and last evaluations of the patients was performed with the Wilcoxon signed-rank test. A total of 29 speech samples were analyzed. All the patients suffered from hypernasality, articulation disorder, and impairment in speech intelligibility at the age of 3 years. The conditions were stable, and 2 patients developed normal or near normal speech during follow-up. Speech therapy and a high dose of rhGAA appeared to improve articulation in 6 of the 7 patients (86%, p = 0.028) by decreasing the omission of consonants, which consequently increased speech intelligibility (p = 0.041). Severity of hypernasality greatly reduced only in 2 patients (29%, p = 0.131). Speech disorders were common even in early and successfully treated patients with IOPD; however, aggressive speech therapy and high-dose rhGAA could improve their speech disorders. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  12. Causes of mortality in early infantile epileptic encephalopathy: A systematic review.

    PubMed

    Radaelli, Graciane; de Souza Santos, Francisco; Borelli, Wyllians Vendramini; Pisani, Leonardo; Nunes, Magda Lahorgue; Scorza, Fulvio Alexandre; da Costa, Jaderson Costa

    2018-06-12

    Early infantile epileptic encephalopathy syndrome (EIEE), also known as Ohtahara syndrome, is an age-dependent epileptic encephalopathy syndrome defined by clinical features and electroencephalographic findings. Epileptic disorders with refractory seizures beginning in the neonatal period and/or early infancy have a potential risk of premature mortality, including sudden death. We aimed to identify the causes of death in EIEE and conducted a literature survey of fatal outcomes. We performed a literature search in MEDLINE, EMBASE, and Web of Science for data from inception until September 2017. The terms "death sudden," "unexplained death," "SUDEP," "lethal," and "fatal" and the medical subject heading terms "epileptic encephalopathy," "mortality," "death," "sudden infant death syndrome," and "human" were used in the search strategy. The EIEE case report studies reporting mortality were included. The search yielded 1360 articles. After screening for titles and abstracts and removing duplicate entries, full texts of 15 articles were reviewed. After reading full texts, 11 articles met the inclusion criteria (9 articles in English and 2 in Japanese, dated from 1976 to 2015). The review comprised 38 unique cases of EIEE, 17 of which had death as an outcome. In all cases, the suppression-burst pattern on electroencephalographies (EEGs) was common. Most cases (55%) involved male infants. The mean (standard deviation [SD]) age at onset of seizure was 19.6 ± 33 days. The mean (SD) age at death was 12.9 ± 14.1 months. Most infants (58.8%) survived less than one year. The cause of death was described only in eight (47%) patients; the cause was pneumonia/respiratory illness or sudden unexpected death in epilepsy (SUDEP). The results show EIEE as a severe disease associated with a premature mortality, evidenced by a very young age at death. Increasing interest in the detection of new molecular bases of EIEE is leading us to a better understanding of this severe

  13. Autism and vitamin D.

    PubMed

    Cannell, John Jacob

    2008-01-01

    Any theory of autism's etiology must take into account its strong genetic basis while explaining its striking epidemiology. The apparent increase in the prevalence of autism over the last 20 years corresponds with increasing medical advice to avoid the sun, advice that has probably lowered vitamin D levels and would theoretically greatly lower activated vitamin D (calcitriol) levels in developing brains. Animal data has repeatedly shown that severe vitamin D deficiency during gestation dysregulates dozens of proteins involved in brain development and leads to rat pups with increased brain size and enlarged ventricles, abnormalities similar to those found in autistic children. Children with the Williams Syndrome, who can have greatly elevated calcitriol levels in early infancy, usually have phenotypes that are the opposite of autism. Children with vitamin D deficient rickets have several autistic markers that apparently disappear with high-dose vitamin D treatment. Estrogen and testosterone have very different effects on calcitriol's metabolism, differences that may explain the striking male/female sex ratios in autism. Calcitriol down-regulates production of inflammatory cytokines in the brain, cytokines that have been associated with autism. Consumption of vitamin D containing fish during pregnancy reduces autistic symptoms in offspring. Autism is more common in areas of impaired UVB penetration such as poleward latitudes, urban areas, areas with high air pollution, and areas of high precipitation. Autism is more common in dark-skinned persons and severe maternal vitamin D deficiency is exceptionally common the dark-skinned. simple Gaussian distributions of the enzyme that activates neural calcitriol combined with widespread gestational and/or early childhood vitamin D deficiency may explain both the genetics and epidemiology of autism. If so, much of the disease is iatrogenic, brought on by medical advice to avoid the sun. Several types of studies could easily

  14. Early Origins of Autism Comorbidity: Neuropsychiatric Traits Correlated in Childhood Are Independent in Infancy.

    PubMed

    Hawks, Zoë W; Marrus, Natasha; Glowinski, Anne L; Constantino, John N

    2018-03-16

    Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months. These early indices of autistic liability were independent from contemporaneous ratings of behavior problems on the Brief Infant-Toddler Social and Emotional Assessment (which were substantially environmentally-influenced), and did not meaningfully predict internalizing or externalizing scores on the Achenbach Scales of Empirically Based Assessment at 36 months. In this general population infant twin study, variation in social communication was independent from variation in other domains of general psychopathology, and exhibited a distinct genetic structure. The commonly-observed comorbidity of specific psychiatric syndromes with autism may arise from subsequent interactions between autistic liability and independent susceptibilities to other psychopathologic traits, suggesting opportunities for preventive amelioration of outcomes of these interactions over the course of development.

  15. Broadband Behavior Rating Scales as Screeners for Autism?

    ERIC Educational Resources Information Center

    Myers, Carl L.; Gross, Amber D.; McReynolds, Brandy M.

    2014-01-01

    In order to start providing important early intervention services to preschoolers and toddlers with autism, those children first need to be identified. Despite the availability of specialized autism assessment instruments, there is a need for effective screeners at the early childhood level. Three broadband behavior rating scales were evaluated in…

  16. Looking for new treatments of Infantile Colic

    PubMed Central

    2014-01-01

    Infantile colic is a common disturbance occurring in the first three months of life. It is a benign condition and one of the main causes of pediatric consultation in the early part of life because of its great impact on family life. Some pediatricians are prone to undervalue this issue mainly because of the lack of evidence based medicine guidelines. Up to now, there is no consensus concerning management and treatment. Literature reports growing evidence about the effectiveness of dietary, pharmacological, complementary and behavioral therapies as options for the management of infantile colic. Dietary approach, usually based on the avoidance of cow’s milk proteins in breast-feeding mothers and bottle-fed infants, more recently has seen the rise of new special formulas, such as partially hydrolyzed proteins and low lactose added with prebiotics or probiotics: their efficacy needs to be further documented. Investigated pharmacological agents are Simethicone and Cimetropium Bromide: the first is able to reduce bloating while the second could reduce fussing crying, but it has been tested only for severe infantile colic. No other pain relieving agents have been proposed until now, but some clinical trials are ongoing for new drugs. There is limited evidence supporting the use of complementary and alternative treatments (herbal supplements, manipulative approach and acupuncture) or behavioral interventions. Recent studies have focused the role of microbiota in the pathogenesis of this disturb and so new treatments, such as probiotics, have been proposed, but only few strains have been tested. Further investigations are needed in order to provide evidence-based guidelines. PMID:24898541

  17. SYMPTOM PRESENTATIONS AND CLASSIFICATION OF AUTISM SPECTRUM DISORDER IN EARLY CHILDHOOD: APPLICATION TO THE DIAGNOSTIC CLASSIFICATION OF MENTAL HEALTH AND DEVELOPMENTAL DISORDERS OF INFANCY AND EARLY CHILDHOOD (DC:0–5)

    PubMed Central

    SOTO, TIMOTHY; KISS, IVY GISERMAN; CARTER, ALICE S.

    2018-01-01

    Over the past 5 years, a great deal of information about the early course of autism spectrum disorder (ASD) has emerged from longitudinal prospective studies of infants at high risk for developing ASD based on a previously diagnosed older sibling. The current article describes early ASD symptom presentations and outlines the rationale for defining a new disorder, Early Atypical Autism Spectrum Disorder (EA-ASD) to accompany ASD in the new revision of the ZERO TO THREE Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood (DC:0–5) (in press) alternative diagnostic classification manual. EA-ASD is designed to identify children who are 9 to 36 months of age presenting with a minimum of (a) two social-communication symptoms and (b) one repetitive and restricted behavior symptom as well as (c) evidence of impairment, with the intention of providing these children with appropriately tailored services and improving the likelihood of optimizing their development. PMID:27556740

  18. Psychometric Properties of the STAT for Early Autism Screening

    ERIC Educational Resources Information Center

    Stone, Wendy L.; Coonrod, Elaine E.; Turner, Lauren M.; Pozdol, Stacie L.

    2004-01-01

    The STAT is an interactive screening measure for autism that assesses behaviors in the areas of play, communication, and imitation skills. In Study 1, signal detection procedures were employed to identify a cutoff score for the STAT using developmentally matched groups of 2-year-old children with autism and with nonspectrum disorders. The…

  19. Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome).

    PubMed

    Fusco, L; Pachatz, C; Di Capua, M; Vigevano, F

    2001-11-01

    Early-infantile epileptic encephalopathy (EIEE) with suppression-bursts is a severe neonatal epileptic encephalopathy. The etiology is multiple, with cerebral malformations as the more frequent. We review the clinical and video/EEG aspects of eight infants with EIEE. These infants, aged between 4 and 70 days at the time of video/EEG recordings, were studied in relation to their clinical and video/EEG characteristics, evolution, persistence of suppression-burst pattern and etiology. Seven of the eight infants showed an ictal clinical sign correlated to the burst of the suppression-burst pattern, four of whom died within 11 months of age. The other three are alive. One, now aged 4 years, underwent surgery for hemimegalencephaly and is seizure-free, with good neurological outcome. One, now aged 9 months, was pyridoxine-dependent and she is seizure-free, and with normal neurological evolution under pyridoxine therapy. One, now aged 3 years and 9 months, is seizure-free, but with severe neurological and cognitive impairment. The only child who did not show a clinical ictal correlation of burst is also alive, now aged 3 years and 9 months, with drug-resistant epilepsy, and severe neurological and cognitive deficits. With regard to the etiology, three showed structural abnormalities, two more showed some signs of prenatal origin of neurological disease, and three had metabolic etiology. Our study confirms that EIEE is a severe age-dependent early epileptic encephalopathy. The etiology is mostly malformative. The prognosis is poor regarding motor and cognitive development, seizures, as well as life expectancies. The presence of an ictal burst of the suppression-burst pattern usually correlates with a negative outcome.

  20. Fostering a Social Child with Autism: A Moment-by-Moment Sequential Analysis of an Early Social Engagement Intervention

    ERIC Educational Resources Information Center

    Vernon, Ty W.

    2014-01-01

    Young children with autism often experience limited social motivation and responsiveness that restricts establishment of crucial social momentum. These characteristics can lead to decreased opportunities for parental engagement and the social learning associated with these moments. Early social interventions that capitalize on pre-existing…

  1. Characterization and Prediction of Early Reading Abilities in Children on the Autism Spectrum

    PubMed Central

    Davidson, Meghan M.; Weismer, Susan Ellis

    2013-01-01

    Many children with autism spectrum disorder (ASD) have reading profiles characterized by higher decoding skills and lower reading comprehension. This study assessed whether this profile was apparent in young children with ASD and examined concurrent and longitudinal predictors of early reading. A discrepant profile of reading (higher alphabet and lower meaning) was found in 62% of this sample. Concurrent analyses revealed that reading proficiency was associated with higher nonverbal cognition and expressive language, and that social ability was negatively related to alphabet knowledge. Nonverbal cognition and expressive language at mean age 2½ years predicted later reading performance at mean age 5½ years. These results support the importance of early language skills as a foundation for reading in children with ASD. PMID:24022730

  2. Early infant exposure to excess multivitamin: a risk factor for autism?

    PubMed

    Zhou, Shi-Sheng; Zhou, Yi-Ming; Li, Da; Ma, Qiang

    2013-01-01

    Autism, a neurodevelopmental disorder that affects boys more than girls, is often associated with altered levels of monoamines (serotonin and catecholamines), especially elevated serotonin levels. The monoamines act as both neurotransmitters and signaling molecules in the gastrointestinal and immune systems. The evidence related to monoamine metabolism may be summarized as follows: (i) monoamine neurotransmitters are enzymatically degraded/inactivated by three mechanisms: oxidative deamination, methylation, and sulfation. The latter two are limited by the supply of methyl groups and sulfate, respectively. (ii) A decrease in methylation- and sulfation-mediated monoamine inactivation can be compensated by an increase in the oxidative deamination catalyzed by monoamine oxidase, an X-linked enzyme exhibiting higher activity in females than in males. (iii) Vitamins can, on one hand, facilitate the synthesis of monoamine neurotransmitters and, on the other hand, inhibit their inactivation by competing for methylation and sulfation. Therefore, we postulate that excess multivitamin feeding in early infancy, which has become very popular over the past few decades, may be a potential risk factor for disturbed monoamine metabolism. In this paper, we will focus on the relationship between excess multivitamin exposure and the inactivation/degradation of monoamine neurotransmitters and its possible role in the development of autism.

  3. The Impact of a Delay to Early Intensive Behavioral Intervention on Educational Outcomes for a Cohort of Medicaid-Enrolled Children with Autism

    ERIC Educational Resources Information Center

    Dimian, Adele F.

    2017-01-01

    Introduction: Early Intensive Behavioral Interventions (EIBI) is an applied behavior analysis approach that can be effective for remediating autism spectrum disorder (ASD) symptoms for some individuals (Reichow, 2012). From a population perspective, timely access to early intervention services is assumed to be important for facilitating long term…

  4. Cognitive behavioral therapy for early adolescents with autism spectrum disorders and clinical anxiety: a randomized, controlled trial.

    PubMed

    Wood, Jeffrey J; Ehrenreich-May, Jill; Alessandri, Michael; Fujii, Cori; Renno, Patricia; Laugeson, Elizabeth; Piacentini, John C; De Nadai, Alessandro S; Arnold, Elysse; Lewin, Adam B; Murphy, Tanya K; Storch, Eric A

    2015-01-01

    Clinically elevated anxiety is a common, impairing feature of autism spectrum disorders (ASD). A modular CBT program designed for preteens with ASD, Behavioral Interventions for Anxiety in Children with Autism (BIACA; Wood et al., 2009) was enhanced and modified to address the developmental needs of early adolescents with ASD and clinical anxiety. Thirty-three adolescents (11-15 years old) were randomly assigned to 16 sessions of CBT or an equivalent waitlist period. The CBT model emphasized exposure, challenging irrational beliefs, and behavioral supports provided by caregivers, as well as numerous ASD-specific treatment elements. Independent evaluators, parents, and adolescents rated symptom severity at baseline and posttreatment/postwaitlist. In intent-to-treat analyses, the CBT group outperformed the waitlist group on independent evaluators' ratings of anxiety severity on the Pediatric Anxiety Rating Scale (PARS) and 79% of the CBT group met Clinical Global Impressions-Improvement scale criteria for positive treatment response at posttreatment, as compared to only 28.6% of the waitlist group. Group differences were not found for diagnostic remission or questionnaire measures of anxiety. However, parent-report data indicated that there was a positive treatment effect of CBT on autism symptom severity. The CBT manual under investigation, enhanced for early adolescents with ASD, yielded meaningful treatment effects on the primary outcome measure (PARS), although additional developmental modifications to the manual are likely warranted. Future studies examining this protocol relative to an active control are needed. Copyright © 2014. Published by Elsevier Ltd.

  5. Infantile colic, regurgitation, and constipation: an early traumatic insult in the development of functional gastrointestinal disorders in children?

    PubMed

    Indrio, Flavia; Di Mauro, Antonio; Riezzo, Giuseppe; Cavallo, Luciano; Francavilla, Ruggiero

    2015-06-01

    Functional gastrointestinal disorders (FGIDs) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms not explained by structural or biochemical abnormalities. Infantile colic, gastroesophageal reflux, and constipation are the most common FGIDs that lead to referral to a pediatrician during the first 6 months of life and are often responsible for hospitalization, feeding changes, use of drugs, parental anxiety, and loss of parental working days with relevant social consequences. We performed a retrospective study on patients referred for recurrent abdominal pain from January 2002 trough December 2009 to our Pediatric Gastroenterology Outpatient Unit. The population studied was matched with healthy control without history of recurrent abdominal pain, enrolled among pediatricians practicing primary health care. History of infantile colic, regurgitation, and functional constipation was detected respectively in 26.41, 25.31, and 30.16% of children diagnosed with FGIDs compared to 11.34, 12.85, and 11.76% of healthy children. According to our data, children with a history of gastrointestinal infantile distress have a higher prevalence of FGIDs years later.

  6. Neonatal and infantile acne vulgaris: an update.

    PubMed

    Serna-Tamayo, Cristian; Janniger, Camila K; Micali, Giuseppe; Schwartz, Robert A

    2014-07-01

    Acne may present in neonates, infants, and small children. Neonatal and infantile acne vulgaris are not considered to be rare. The presentation of acne in this patient population sometimes represents virilization and may portend later development of severe adolescent acne. Neonatal and infantile acne vulgaris must be distinguished from other cutaneous disorders seen in newborns and infants. Infantile acne tends to be more pleomorphic and inflammatory, thus requiring more vigorous therapy than neonatal acne.

  7. Interleukin 1 Receptor Antagonist Deficiency Presenting as Infantile Pustulosis Mimicking Infantile Pustular Psoriasis

    PubMed Central

    Minkis, Kira; Aksentijevich, Ivona; Goldbach-Mansky, Raphaela; Magro, Cynthia; Scott, Rachelle; Davis, Jessica G.; Sardana, Niti; Herzog, Ronit

    2012-01-01

    Background Deficiency of interleukin 1 receptor antagonist (DIRA) is a recently described autoinflammatory syndrome of skin and bone caused by recessive mutations in the gene encoding the interleukin 1 receptor antagonist. Few studies have been published about this debilitating condition. Early identification is critical for targeted lifesaving intervention. Observations A male infant, born to nonconsanguineous Puerto Rican parents, was referred for management of a pustular eruption diagnosed as pustular psoriasis. At 2 months of age, the infant developed a pustular eruption. After extensive evaluation, he was confirmed to be homozygous for a 175-kb genomic deletion on chromosome 2 that includes the IL1RN gene, commonly found in Puerto Ricans. Therapy with anakinra was initiated, with rapid clearance of skin lesions and resolution of systemic inflammation. Conclusions Recent identification of DIRA as a disease entity, compounded by the limited number of reported cases, makes early identification difficult. It is critical to consider this entity in the differential diagnosis of infantile pustulosis. Targeted therapy with the recombinant human interleukin 1 receptor antagonist anakinra can be lifesaving if initiated early. A high carrier frequency of the 175-kb DIRA-associated genomic deletion in the Puerto Rican population strongly supports testing infants presenting with unexplained pustulosis in patients from this geographic region. PMID:22431714

  8. What causes autism? Exploring the environmental contribution.

    PubMed

    Landrigan, Philip J

    2010-04-01

    Autism is a biologically based disorder of brain development. Genetic factors--mutations, deletions, and copy number variants--are clearly implicated in causation of autism. However, they account for only a small fraction of cases, and do not easily explain key clinical and epidemiological features. This suggests that early environmental exposures also contribute. This review explores this hypothesis. Indirect evidence for an environmental contribution to autism comes from studies demonstrating the sensitivity of the developing brain to external exposures such as lead, ethyl alcohol and methyl mercury. But the most powerful proof-of-concept evidence derives from studies specifically linking autism to exposures in early pregnancy - thalidomide, misoprostol, and valproic acid; maternal rubella infection; and the organophosphate insecticide, chlorpyrifos. There is no credible evidence that vaccines cause autism. Expanded research is needed into environmental causation of autism. Children today are surrounded by thousands of synthetic chemicals. Two hundred of them are neurotoxic in adult humans, and 1000 more in laboratory models. Yet fewer than 20% of high-volume chemicals have been tested for neurodevelopmental toxicity. I propose a targeted discovery strategy focused on suspect chemicals, which combines expanded toxicological screening, neurobiological research and prospective epidemiological studies.

  9. AB073. Classic infantile-onset Pompe disease: phenotypes and outcomes of 5 Vietnamese patients receiving enzyme replacement therapy

    PubMed Central

    Nguyen, Khanh Ngoc; Do, Mai Thi Thanh; Can, Ngoc Thi Bich; Hwu, Wuh-Liang; Vu, Dung Chi

    2017-01-01

    Background Pompe disease (PD) or glycogen storage disease type II is a lysosomal storage disorder, caused by mutations of GAA gene which results in deficiency of acid alpha-glucosidase (GAA) enzyme that involves in metabolism of glycogen in the lysosomes. Its incidence is 1/14,000–1/100,000. PD is divided into three types: classic infantile onset, non-classic infantile onset, and late onset. Early enzyme replacement therapy (ERT) before developing respiratory distress may lead to good outcome. Since 2013, we have identified 16 cases with classic infantile-onset and 5 cases were treated with ERT. Herein, we describe phenotypes and outcomes of five infantile-onset PD patients who received ERT. Methods GAA enzyme assay was done at National Taiwan University Hospital. Results Ages of diagnosis were 12, 38 and 70 days, 5 and 9 months of age. Clinical presentations included macroglossia (5/5), hypertrophic cardiomyopathy (5/5), failure to thrive (5/5), facial weakness and hypotonia (3 patients diagnosed after 70 days of age), respiratory failure (1 patient diagnosed at 9 months of age). All patients had mildly elevated plasma CK (270–380 UI/L) and transaminase (60–260 UI/l). Ages at starting ERT were 28 and 58 days, 3, 6 and 10 months. The time intervals from diagnosis to starting ERT were between 14 days and 1 month. The durations of ERT were 4–22 months. The outcomes were good. All patients had improvement of cardiac functions shown on echocardiography, respiratory status, and motor development. The patient who first received ERT at 10 months of age was reportedly dead at home due to food obstruction at 18 months of age. Current ages of the survivors were 5–24 months. Conclusions Patients with classic infantile-onset PD will have good outcomes if ERT is started early. Newborn screening for this disease is necessary to yield an early diagnosis.

  10. [Spanish consensus on infantile haemangioma].

    PubMed

    Baselga Torres, Eulalia; Bernabéu Wittel, José; van Esso Arbolave, Diego L; Febrer Bosch, María Isabel; Carrasco Sanz, Ángel; de Lucas Laguna, Raúl; Del Pozo Losada, Jesús; Hernández Martín, Ángela; Jiménez Montañés, Lorenzo; López Gutiérrez, Juan Carlos; Martín-Santiago, Ana; Redondo Bellón, Pedro; Ruíz-Canela Cáceres, Juan; Torrelo Fernández, Antonio; Vera Casaño, Ángel; Vicente Villa, María Asunción

    2016-11-01

    Infantile haemangiomas are benign tumours produced by the proliferation of endothelial cells of blood vessels, with a high incidence in children under the age of one year (4-10%). It is estimated that 12% of them require treatment. This treatment must be administered according to clinical practice guidelines, expert experience, patient characteristics and parent preferences. The consensus process was performed by using scientific evidence on the diagnosis and treatment of infantile haemangiomas, culled from a systematic review of the literature, together with specialist expert opinions. The recommendations issued were validated by the specialists, who also provided their level of agreement. This document contains recommendations on the classification, associations, complications, diagnosis, treatment, and follow-up of patients with infantile haemangioma. It also includes action algorithms, and addresses multidisciplinary management and referral criteria between the different specialities involved in the clinical management of this type of patient. The recommendations and the diagnostic and therapeutic algorithms of infantile haemangiomas contained in this document are a useful tool for the proper management of these patients. Copyright © 2015 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. 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

  12. Impaired Face Processing in Autism: Fact or Artifact?

    ERIC Educational Resources Information Center

    Jemel, Boutheina; Mottron, Laurent; Dawson, Michelle

    2006-01-01

    Within the last 10 years, there has been an upsurge of interest in face processing abilities in autism which has generated a proliferation of new empirical demonstrations employing a variety of measuring techniques. Observably atypical social behaviors early in the development of children with autism have led to the contention that autism is a…

  13. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.

    PubMed

    Stowe, Robert C; Sun, Qin; Elsea, Sarah H; Scaglia, Fernando

    2018-05-01

    Lipoic acid is an essential cofactor for the mitochondrial 2-ketoacid dehydrogenase complexes and the glycine cleavage system. Lipoyltransferase 1 catalyzes the covalent attachment of lipoate to these enzyme systems. Pathogenic variants in LIPT1 gene have recently been described in four patients from three families, commonly presenting with severe lactic acidosis resulting in neonatal death and/or poor neurocognitive outcomes. We report a 2-month-old male with severe lactic acidosis, refractory status epilepticus, and brain imaging suggestive of Leigh disease. Exome sequencing implicated compound heterozygous LIPT1 pathogenic variants. We describe the fifth case of LIPT1 deficiency, whose phenotype progressed to that of an early infantile epileptic encephalopathy, which is novel compared to previously described patients whom we will review. Due to the significant biochemical and phenotypic overlap that LIPT1 deficiency and mitochondrial energy cofactor disorders have with pyruvate dehydrogenase deficiency and/or nonketotic hyperglycinemia, they are and have been presumptively under-diagnosed without exome sequencing. © 2018 Wiley Periodicals, Inc.

  14. [Metabolism of serotonin in autism in children].

    PubMed

    Bursztejn, C; Ferrari, P; Dreux, C; Braconnier, A; Lancrenon, S

    1988-01-01

    In this controlled study of 22 autistic children and 22 normal controls matched for age and sex, the frequency of hyperserotonemia in infantile autism was confirmed. Platelet serotonin was elevated in patients. Comparative to controls, serotonin was also high in urine of autistic patients, while, on the contrary there was no difference for the urinary excretion of 5-HIAA. No difference was observed either for serotonin uptake and efflux or for MAO activity, in isolated platelets. The elevation of plasma free tryptophan - significant only with the Kolmogorov Smirnov test - suggests that 5-HT biosynthesis might be enhanced. In the group of patient reported in this study, disorders of serotonin metabolism are associated with disturbances of platelet catecholamines, and also with elevated immunoglobulins and enhanced cellular immunity reactions.

  15. The Prodrome of Autism: Early Behavioral and Biological Signs, Regression, Peri- and Post-Natal Development and Genetics

    ERIC Educational Resources Information Center

    Yirmiya, Nurit; Charman, Tony

    2010-01-01

    Autism is one of the most heritable neurodevelopmental conditions and has an early onset, with symptoms being required to be present in the first 3 years of life in order to meet criteria for the "core" disorder in the classification systems. As such, the focus on identifying a prodrome over the past 20 years has been on pre-clinical…

  16. Parents' Perceptions of Early Interventions and Related Services for Children with Autism Spectrum Disorder in Saudi Arabia

    ERIC Educational Resources Information Center

    Alotaibi, Faihan; Almalki, Nabil

    2016-01-01

    The present study sought to examine parents' perceptions of early interventions and related services for children with autism spectrum disorder (ASD) in Saudi Arabia. In this study a survey was distributed to a sample of 80 parents with children who have ASD. Parents also were asked open-ended questions to enable them to provide suggestions. The…

  17. A New Screening Programme for Autism in a General Population of Swedish Toddlers

    ERIC Educational Resources Information Center

    Nygren, Gudrun; Sandberg, Eva; Gillstedt, Fredrik; Ekeroth, Gunnar; Arvidsson, Thomas; Gillberg, Christopher

    2012-01-01

    The evidence from early intervention studies of autism has emphasised the need for early diagnosis. Insight into the early presentation of autism is crucial for early recognition, and routine screening can optimise the possibility for early diagnosis. General population screening was conducted for 2.5-year-old children at child health centres in…

  18. Change in Autism Classification with Early Intervention: Predictors and Outcomes

    ERIC Educational Resources Information Center

    Ben Itzchak, Esther; Zachor, Ditza A.

    2009-01-01

    The current study characterized stability and changes of autism diagnostic classification with intervention in very young children and examined pre-treatment predictors and post-intervention outcome. Sixty-eight children diagnosed with autism, aged 18-35 months (M = 25.4, SD = 4.0) participated in the study. Children underwent comprehensive…

  19. Autism and Herpes Simplex Encephalitis. Brief Report.

    ERIC Educational Resources Information Center

    Ghaziuddin, Mohammad; And Others

    1992-01-01

    This paper presents two case studies of children who developed herpes virus infection in the intrauterine or early postnatal period and presented with features of autism around two years of age. Other research suggesting a link between herpes and autism is reviewed. (DB)

  20. Advances in Autism

    PubMed Central

    Geschwind, Daniel H.

    2013-01-01

    Autism is a common childhood neurodevelopmental disorder with strong genetic liability. It is not a unitary entity but a clinical syndrome, with variable deficits in social behavior and language, restrictive interests, and repetitive behaviors. Recent advances in the genetics of autism emphasize its etiological heterogeneity, with each genetic susceptibility locus accounting for only a small fraction of cases or having a small effect. Therefore, it is not surprising that no unifying structural or neuropathological features have been conclusively identified. Given the heterogeneity of autism spectrum disorder (ASD), approaches based on studying heritable components of the disorder, or endophenotypes, such as language or social cognition, provide promising avenues for genetic and neurobiological investigations. Early intensive behavioral and cognitive interventions are efficacious in many cases, but autism does not remit in the majority of children. Therefore, development of targeted therapies based on pathophysiologically and etiologically defined subtypes of ASD remains an important and achievable goal of current research. PMID:19630577

  1. Early Sensory Over-Responsivity in Toddlers with Autism Spectrum Disorders as a Predictor of Family Impairment and Parenting Stress

    ERIC Educational Resources Information Center

    Ben-Sasson, A.; Soto, T. W.; Martinez-Pedraza, F.; Carter, A. S.

    2013-01-01

    Background: Sensory over-responsivity (SOR) affects many individuals with autism spectrum disorders (ASD), often leading to stressful encounters during daily routines. Methods: This study describes the associations between early SOR symptoms and the longitudinal course of restrictions in family life activities and parenting stress across three…

  2. Maternal Exposure to Occupational Asthmagens during Pregnancy and Autism Spectrum Disorder in the Study to Explore Early Development

    ERIC Educational Resources Information Center

    Singer, Alison B.; Windham, Gayle C.; Croen, Lisa A.; Daniels, Julie L.; Lee, Brian K.; Qian, Yinge; Schendel, Diana E.; Fallin, M. Daniele; Burstyn, Igor

    2016-01-01

    Maternal immune activity has been linked to children with autism spectrum disorder (ASD). We examined maternal occupational exposure to asthma-causing agents during pregnancy in relation to ASD risk. Our sample included 463 ASD cases and 710 general population controls from the Study to Explore Early Development whose mothers reported at least one…

  3. Language Impairment and Early Social Competence in Preschoolers with Autism Spectrum Disorders: A Comparison of DSM-5 Profiles

    ERIC Educational Resources Information Center

    Bennett, T. A.; Szatmari, P.; Georgiades, K.; Hanna, S.; Janus, M.; Georgiades, S.; Duku, E.; Bryson, S.; Fombonne, E.; Smith, I. M.; Mirenda, P.; Volden, J.; Waddell, C.; Roberts, W.; Vaillancourt, T.; Zwaigenbaum, L.; Elsabbagh, M.; Thompson, A.

    2014-01-01

    Children with autism spectrum disorder (ASD) and structural language impairment (LI) may be at risk of more adverse social-developmental outcomes. We examined trajectories of early social competence (using the Vineland-II) in 330 children aged 2-4 years recently diagnosed with ASD, and compared 3 subgroups classified by: language impairment…

  4. Verbal Behavior in Young Children with Autism Spectrum Disorders at the Onset of an Early Behavioral Intervention Program

    ERIC Educational Resources Information Center

    Rivard, Melina; Forget, Jacques

    2012-01-01

    The scope of this study was direct observation of verbal behaviors of 14 children with autism spectrum disorders at the onset of an early behavioral intervention (EBI) program delivered in a public services agency. Objectives were to (1) describe frequencies of vocal, verbal, and listener behaviors; (2) evaluate the relationship between the…

  5. 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…

  6. Autism as early neurodevelopmental disorder: evidence for an sAPPα-mediated anabolic pathway

    PubMed Central

    Lahiri, Debomoy K.; Sokol, Deborah K.; Erickson, Craig; Ray, Balmiki; Ho, Chang Y.; Maloney, Bryan

    2013-01-01

    Autism is a neurodevelopmental disorder marked by social skills and communication deficits and interfering repetitive behavior. Intellectual disability often accompanies autism. In addition to behavioral deficits, autism is characterized by neuropathology and brain overgrowth. Increased intracranial volume often accompanies this brain growth. We have found that the Alzheimer’s disease (AD) associated amyloid-β precursor protein (APP), especially its neuroprotective processing product, secreted APP α, is elevated in persons with autism. This has led to the “anabolic hypothesis” of autism etiology, in which neuronal overgrowth in the brain results in interneuronal misconnections that may underlie multiple autism symptoms. We review the contribution of research in brain volume and of APP to the anabolic hypothesis, and relate APP to other proteins and pathways that have already been directly associated with autism, such as fragile X mental retardation protein, Ras small GTPase/extracellular signal-regulated kinase, and phosphoinositide 3 kinase/protein kinase B/mammalian target of rapamycin. We also present additional evidence of magnetic resonance imaging intracranial measurements in favor of the anabolic hypothesis. Finally, since it appears that APP’s involvement in autism is part of a multi-partner network, we extend this concept into the inherently interactive realm of epigenetics. We speculate that the underlying molecular abnormalities that influence APP’s contribution to autism are epigenetic markers overlaid onto potentially vulnerable gene sequences due to environmental influence. PMID:23801940

  7. Parent-child relationship quality and infantile amnesia in adults.

    PubMed

    Peterson, Carole; Nguyen, Duyen T K

    2010-11-01

    The first years of life are typically shrouded by infantile amnesia, but there is enormous variability between adults in how early and how much they can remember from this period. This study examined one possible factor affecting this variability: whether the perceived quality of parent-child relationships is associated with the number of early memories young adults can retrieve, and their age at the time of their first memory. We found such associations but they were qualified by parent gender. Mother-child relationships that were more affectively intense (greater social support but also more negative interchanges) were associated with recalling more early memories, although paternal companionship was most associated with how early an individual's first memory was. Affective tone of retrieved memories was also assessed, and a greater proportion of affectively positive memories (as well as fewer affectively neutral memories for males) was associated with high parental involvement in children's lives.

  8. Development in Infants with Autism Spectrum Disorders: A Prospective Study

    ERIC Educational Resources Information Center

    Landa, Rebecca; Garrett-Mayer, Elizabeth

    2006-01-01

    Background: Autism is rarely diagnosed before three years of age despite evidence suggesting prenatal abnormalities in neurobiological processes. Little is known about when or how development becomes disrupted in the first two years of life in autism. Such information is needed to facilitate early detection and early intervention. Methods: This…

  9. 2010 Summary of Advances in Autism Spectrum Disorder Research

    ERIC Educational Resources Information Center

    Interagency Autism Coordinating Committee, 2010

    2010-01-01

    As part of the Combating Autism Act of 2006, the members of the Interagency Autism Coordinating Committee (IACC) are required to develop an annual "Summary of Advances" to describe each year's top advances in autism spectrum disorder (ASD) research. These advances represent significant progress in the early diagnosis of ASD, understanding the…

  10. Autism Spectrum Disorder in Children Adopted after Early Care Breakdown

    ERIC Educational Resources Information Center

    Green, Jonathan; Leadbitter, Kathy; Kay, Catherine; Sharma, Kishan

    2016-01-01

    Syndromic autism has been described in children adopted after orphanage rearing. We investigated whether the same existed in children adopted after family breakdown. Families of 54/60 adopted children aged 6-11 years (mean 102 months; SD 20; 45% male) returned screening questionnaires for autism spectrum disorder (ASD); 21/54 (39%) screened…

  11. [Infantile haemangioma: clinical and demographic characteristics, experiences in the treatment].

    PubMed

    Csoma, Zsanett Renáta; Dalmády, Szandra; Ábrahám, Rita; Rózsa, Tamás; Rácz, Katalin; Kemény, Lajos

    2017-10-01

    Infantile haemangiomas are the most common vascular tumours of infancy. The vast majority of the lesions do not require dermatological treatment due to their unique clinical course and the high rate of spontaneous regression. Approximately 10-15% of the tumours result in severe complications and sequale, requiring special management and close follow-up. The aim of the present study was to assess the data of the patients treated with infantile haemangiomas, and to summarize the results of the therapy during 4.5 years of study period, in the Paediatric Dermatology Outpatient Clinic of the Department of Dermatology and Allergology, at the University of Szeged. Demographic data of the infants (gender, gestational age and weight, perinatal history of the infant and medical history of mothers), exact date of the visits at Paediatric Dermatology Outpatient Clinic and tumour characteristics (number, subtype, anatomical localisation and complications) were analysed in details. Treatment modalities and therapy intervals, outcomes and the adverse events of the therapies were also discussed in the survey. During the study period, 96 infants with 163 infantile haemangiomas were observed. 54 patients required regular observations, while 42 infants required local or systemic beta-blocker therapy. All of the tumours treated with local or systemic therapy showed marked clinical regression; adverse effects were observed in only 6 cases. The gestational age and gestational weight of infants requiring beta-blocker therapy was significantly lower as compared to children needed only observation. Systemic propranolol is currently the first-line treatment modality for complicated infantile haemangiomas. Our results confirm the significant therapeutic efficacy of propranolol. Early introduction of the treatment is relevant; unfortunately a great proportion of patients are referred late to Paediatric Dermatology Centres. Orv Hetil. 2017; 158(39): 1535-1544.

  12. Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion.

    PubMed

    Milone, Roberta; Valetto, Angelo; Bertini, Veronica; Sicca, Federico

    2017-06-01

    Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and long-term clinical follow-up.

  13. The Colorado Autism Manual for Teachers, Service-Providers and Parents.

    ERIC Educational Resources Information Center

    Colorado State Dept. of Education, Denver.

    This manual provides information on autism to enable Colorado parents and educators to recognize early symptoms in children and to provide for early intervention. Section 1 of the manual provides an introduction to the Colorado Autism Task Force, lists participants in the task force, explains the guiding principles for development of educational…

  14. A Pilot Study Promoting Participation of Families with Limited Resources in Early Autism Intervention

    PubMed Central

    Carr, Themba; Lord, Catherine

    2016-01-01

    Background Relatively little research about autism early intervention has occurred in families of low socioeconomic status. Barriers to participation for under-resourced families (i.e., families with low incomes or limited education), pose a significant problem. The purpose of this pilot study was to apply empirically supported methods promoting participation of families with low-income and low-education levels to an established intervention for children with autism spectrum disorder (ASD). Method Participant recruitment specifically targeted families whose income was equal to or below two times the federal poverty line and whose caregiver(s) had no more than two years of college attendance. An evidence-based intervention was modified to be more accessible to participating families. Adaptations focused on decreasing access barriers, decreasing attrition, and promoting positive change within families. Success of the program was measured quantitatively and qualitatively. Results Twenty-seven families were referred to the project, 13 of which did not meet eligibility requirements. Eight families enrolled, maintained participation for the majority of the project and provided positive qualitative feedback of their experiences. Project and treatment attrition were calculated at 62% and 12.5%, respectively. Treatment attendance was high, but length of time to complete treatment was greatly influenced by the number of session cancellations. Conclusions The exploratory project demonstrated that practical modifications to standard early intervention protocols can promote engagement in families with limited resources. Recommendations for programs seeking to implement interventions in under-resourced communities are discussed. PMID:27019670

  15. Brainstem Auditory Evoked Potential Study in Children with Autistic Disorder.

    ERIC Educational Resources Information Center

    Wong, Virginia; Wong, Sik Nin

    1991-01-01

    Brainstem auditory evoked potentials were compared in 109 children with infantile autism, 38 with autistic condition, 19 with mental retardation, and 20 normal children. Children with infantile autism or autistic condition had significantly longer brainstem transmission time than normal children suggesting neurological damage as the basis of…

  16. Elevated fetal steroidogenic activity in autism.

    PubMed

    Baron-Cohen, S; Auyeung, B; Nørgaard-Pedersen, B; Hougaard, D M; Abdallah, M W; Melgaard, L; Cohen, A S; Chakrabarti, B; Ruta, L; Lombardo, M V

    2015-03-01

    Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen's d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism.

  17. Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms.

    PubMed

    Harini, Chellamani; Sharda, Sonal; Bergin, Ann Marie; Poduri, Annapurna; Yuskaitis, Christopher J; Peters, Jurriaan M; Rakesh, Kshitiz; Kapur, Kush; Pearl, Phillip L; Prabhu, Sanjay P

    2018-05-01

    To evaluate initial magnetic resonance imaging (MRI) abnormalities in infantile spasms, correlate them to clinical characteristics, and describe repeat imaging findings. A retrospective review of infantile spasm patients was conducted, classifying abnormal MRI into developmental, acquired, and nonspecific subgroups. MRIs were abnormal in 52 of 71 infantile spasm patients (23 developmental, 23 acquired, and 6 nonspecific) with no correlation to the clinical infantile spasm characteristics. Both developmental and acquired subgroups exhibited cortical gray and/or white matter abnormalities. Additional abnormalities of deep gray structures, brain stem, callosum, and volume loss occurred in the structural acquired subgroup. Repeat MRI showed better definition of the extent of existing malformations. In structural infantile spasms, developmental/acquired subgroups showed differences in pattern of MRI abnormalities but did not correlate with clinical characteristics.

  18. The Effects of an Early Motor Skill Intervention on Motor Skills, Levels of Physical Activity, and Socialization in Young Children with Autism Spectrum Disorder: A Pilot Study

    ERIC Educational Resources Information Center

    Ketcheson, Leah; Hauck, Janet; Ulrich, Dale

    2017-01-01

    Despite evidence suggesting one of the earliest indicators of an eventual autism spectrum disorder diagnoses is an early motor delay, there remain very few interventions targeting motor behavior as the primary outcome for young children with autism spectrum disorder. The aim of this pilot study was to measure the efficacy of an intensive motor…

  19. A systematic review of early intensive intervention for autism spectrum disorders.

    PubMed

    Warren, Zachary; McPheeters, Melissa L; Sathe, Nila; Foss-Feig, Jennifer H; Glasser, Allison; Veenstra-Vanderweele, Jeremy

    2011-05-01

    Early intensive behavioral and developmental interventions for young children with autism spectrum disorders (ASDs) may enhance developmental outcomes. To systematically review evidence regarding such interventions for children aged 12 and younger with ASDs. We searched Medline, PsycINFO, and ERIC (Education Resources Information Center) from 2000 to May 2010. Two reviewers independently assessed studies against predetermined inclusion/exclusion criteria. Two reviewers independently extracted data regarding participant and intervention characteristics, assessment techniques, and outcomes and assigned overall quality and strength-of-evidence ratings using predetermined criteria. Thirty-four unique studies met inclusion criteria. Seventeen studies were case series; 2 were randomized controlled trials. We rated 1 study as good quality, 10 as fair quality, and 23 as poor quality. The strength of the evidence overall ranged from insufficient to low. Studies of University of California Los Angeles/Lovaas-based interventions and variants reported clinically significant gains in language and cognitive skills in some children, as did 1 randomized controlled trial of an early intensive developmental intervention approach (the Early Start Denver Model). Specific parent-training approaches yielded gains in short-term language function and some challenging behaviors. Data suggest that subgroups of children displayed more prominent gains across studies, but participant characteristics associated with greater gains are not well understood. Studies of Lovaas-based approaches and early intensive behavioral intervention variants and the Early Start Denver Model resulted in some improvements in cognitive performance, language skills, and adaptive behavior skills in some young children with ASDs, although the literature is limited by methodologic concerns.

  20. Infantile-onset Pompe disease with neonatal debut

    PubMed Central

    Martínez, Miriam; Romero, Mar García; Guereta, Luis García; Cabrera, Marta; Regojo, Rita M.; Albajara, Luis; Couce, Maria L.; de Pipaon, Miguel Saenz

    2017-01-01

    Abstract Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns: We report a case of a newborn with infantile-onset Pompe disease diagnosed in the first days of life who did not undergo universal neonatal screening. The patient was asymptomatic, with a general physical examination revealing only a murmur. The clinical presentation was dominated by the neonatal detection of hypertrophic cardiomyopathy, without hypotonia or macroglossia. Diagnoses: Pompe disease was confirmed in the first week of life by GAA activity in dried blood spots, and a GAA genetic study showed the homozygous mutation p.Arg854X. Interventions: Parents initially refused replacement therapy. Outcomes: The patient experienced recurrent episodes of ventricular fibrillation during central line placement and could not be resuscitated. Lessons: Although Pompe disease is rare, and universal screening has not been established, neonatologists should be alerted to the diagnosis of Pompe in the presence of hypertrophic cardiomyopathy. Diagnosis is achieved in a few days with the aid of dried blood spots. PMID:29390460

  1. Motor Anticipation Failure in Infants with Autism: A Retrospective Analysis of Feeding Situations

    ERIC Educational Resources Information Center

    Brisson, Julie; Warreyn, Petra; Serres, Josette; Foussier, Stephane; Adrien-Louis, Jean

    2012-01-01

    Previous studies on autism have shown a lack of motor anticipation in children and adults with autism. As part of a programme of research into early detection of autism, we focussed on an everyday situation: spoon-feeding. We hypothesize that an anticipation deficit may be found very early on by observing whether the baby opens his or her mouth in…

  2. Trajectories of Early Brain Volume Development in Fragile X and Autism RH: Trajectory of Brain Volume in Fragile X

    PubMed Central

    Hazlett, Heather Cody; Poe, Michele D.; Lightbody, Amy A.; Styner, Martin; MacFall, James R.; Reiss, Allan L.; Piven, Joseph

    2012-01-01

    Objective To examine patterns of early brain growth in young children with fragile X syndrome (FXS) compared to a comparison group (controls) and a group with idiopathic autism. Method The study included 53 boys between 18–42 months of age with FXS, 68 boys with idiopathic autism (ASD), and a comparison group of 50 typically-developing and developmentally-delayed controls. We examined structural brain volumes using magnetic resonance imaging (MRI) across two timepoints between ages 2–3 and 4–5 years and examined total brain volumes and regional (lobar) tissue volumes. Additionally, we studied a selected group of subcortical structures implicated in the behavioral features of FXS (e.g., basal ganglia, hippocampus, amygdala). Results Children with FXS had greater global brain volumes compared to controls, but were not different than children with idiopathic autism, and the rate of brain growth between ages 2 and 5 paralleled that seen in controls. In contrast to the children with idiopathic autism who had generalized cortical lobe enlargement, the children with FXS showed a specific enlargement in temporal lobe white matter, cerebellar gray matter, and caudate nucleus, but significantly smaller amygdala. Conclusions This structural longitudinal MRI study of preschoolers with FXS observed generalized brain overgrowth in FXS compared to controls, evident at age 2 and maintained across ages 4–5. We also find different patterns of brain growth that distinguishes boys with FXS from children with idiopathic autism. PMID:22917205

  3. [On the benefits to keep using the asperger diagnosis].

    PubMed

    Delcommenne, M; Francolini, M; Bon, O L

    The purpose of this paper is to examine the possible benefits to keep using the diagnosis of Asperger's syndrome. We first describe the evolution of this entity over time and within nomenclature bases such as the ICD- 10, the CFTMEA and the last versions of DSM. Then, we discuss more precisely the impact of the decision made in the DSM-5 to suppress the Asperger syndrome as a differentiated entity within the pervasive developmental disorders (PDD). This disorder chapter by the way also disappears and is replaced by Autism Spectrum Disorder (ASD). We present here three clinical cases encountered in an outpatient general child psychiatry clinic : 1 case was diagnosed as Asperger syndrome, 1 as infantile autism (early infantile autism) and 1 as another pervasive developmental disorder (psychotic disharmony). The objective was to expose the commonali ties and differences between these three entities. We conclude that keeping using the Asperger diagnosis is important for the clinical management of these clinical situations but also for the individual, his or her family and society at large.

  4. Educating Young Children with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Barton, Erin E.; Harn, Beth

    2012-01-01

    Every 20 minutes, another child is diagnosed with autism. Are you ready to meet this growing educational challenge? This authoritative guide for practitioners--early interventionists, teachers, school counselors and psychologists--provides practical strategies for addressing the unique needs of children on the autism spectrum and their families.…

  5. A Clinical Translation of the Article Titled "Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder".

    PubMed

    Shannon, Robin Adair

    2015-01-01

    The purpose of this article is to offer a clinical translation of a literature review titled "Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder" by Ryberg (2015). The literature review was conducted to determine the strength of the research evidence regarding the effectiveness of the Early Start Denver Model in improving cognitive, language, and behavioral functioning of children with autism spectrum disorder. In an effort to narrow the gap between evidence and practice, this clinical translation will discuss the components of the literature review in terms of its rationale for and objectives, methods, results, and implications for evidence-based nursing practice. © The Author(s) 2015.

  6. The Link Between Infantile Colic and Migraine.

    PubMed

    Qubty, William; Gelfand, Amy A

    2016-05-01

    Infantile colic is a self-limiting disorder of excessive infant crying or fussiness that peaks at 6 weeks of age and typically improves by 3 months of age. The etiology of infantile colic has yet to be definitively elucidated, but there is increasing research to support its relationship to migraine. The aims of this review are to present recent research investigating the connection between infantile colic and migraine. The importance of identifying this connection is useful in reducing invasive and potentially harmful investigations and to identify age appropriate pharmacologic interventions that would be safe in this population.

  7. Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

    PubMed

    Avery, A A

    1999-07-01

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict.

  8. Neurodevelopment and executive function in autism.

    PubMed

    O'Hearn, Kirsten; Asato, Miya; Ordaz, Sarah; Luna, Beatriz

    2008-01-01

    Autism is a neurodevelopmental disorder characterized by social and communication deficits, and repetitive behavior. Studies investigating the integrity of brain systems in autism suggest a wide range of gray and white matter abnormalities that are present early in life and change with development. These abnormalities predominantly affect association areas and undermine functional integration. Executive function, which has a protracted development into adolescence and reflects the integration of complex widely distributed brain function, is also affected in autism. Evidence from studies probing response inhibition and working memory indicate impairments in these core components of executive function, as well as compensatory mechanisms that permit normative function in autism. Studies also demonstrate age-related improvements in executive function from childhood to adolescence in autism, indicating the presence of plasticity and suggesting a prolonged window for effective treatment. Despite developmental gains, mature executive functioning is limited in autism, reflecting abnormalities in wide-spread brain networks that may lead to impaired processing of complex information across all domains.

  9. Autism Spectrum Disorder and Autistic Traits in the Avon Longitudinal Study of Parents and Children: Precursors and Early Signs

    ERIC Educational Resources Information Center

    Bolton, Patrick F.; Golding, Jean; Emond, Alan; Steer, Colin D.

    2012-01-01

    Objective: To chart the emergence of precursors and early signs of autism spectrum disorder (ASD) and autistic traits in the Avon Longitudinal Study of Parents and Children, a prospective longitudinal cohort study of the surviving offspring of 14,541 pregnant women from southwestern England with an expected delivery date between April 1991 and…

  10. Autism BrainNet: A network of postmortem brain banks established to facilitate autism research.

    PubMed

    Amaral, David G; Anderson, Matthew P; Ansorge, Olaf; Chance, Steven; Hare, Carolyn; Hof, Patrick R; Miller, Melissa; Nagakura, Ikue; Pickett, Jane; Schumann, Cynthia; Tamminga, Carol

    2018-01-01

    Autism spectrum disorder (ASD or autism) is a neurodevelopmental condition that affects over 1% of the population worldwide. Developing effective preventions and treatments for autism will depend on understanding the genetic perturbations and underlying neuropathology of the disorder. While evidence from magnetic resonance imaging and other noninvasive techniques points to altered development and organization of the autistic brain, these tools lack the resolution for identifying the cellular and molecular underpinnings of the disorder. Postmortem studies of high-quality human brain tissue currently represent the only viable option to pursuing these types of studies. However, the availability of high-quality ASD brain tissue has been extremely limited. Here we describe the establishment of a privately funded tissue bank, Autism BrainNet, a network of brain collection sites that work in a coordinated fashion to develop an adequate library of human postmortem brain tissues. Autism BrainNet was initiated as a collaboration between the Simons Foundation and Autism Speaks, and is currently funded by the Simons Foundation Autism Research Initiative. Autism BrainNet has collection sites (nodes) in California, Texas, New York, and Massachusetts; an affiliated, international node is located in Oxford, England. All donations to this network become part of a consolidated pool of tissue that is distributed to qualified investigators worldwide to carry out autism research. An essential component of this program is a widespread outreach program that highlights the need for postmortem brain donations to families affected by autism, led by the Autism Science Foundation. Challenges include an outreach campaign that deals with a disorder beginning in early childhood, collecting an adequate number of donations to deal with the high level of biologic heterogeneity of autism, and preparing this limited resource for optimal distribution to the greatest number of investigators. Copyright

  11. Behavioral adjustment of siblings of children with autism engaged in applied behavior analysis early intervention programs: the moderating role of social support.

    PubMed

    Hastings, Richard P

    2003-04-01

    There have been few studies of the impact of intensive home-based early applied behavior analysis (ABA) intervention for children with autism on family functioning. In the present study, behavioral adjustment was explored in 78 siblings of children with autism on ABA programs. First, mothers' ratings of sibling adjustment were compared to a normative sample. There were no reported increases in behavioral adjustment problems in the present sample. Second, regression analyses revealed that social support functioned as a moderator of the impact of autism severity on sibling adjustment rather than a mediator or compensatory variable. In particular, siblings in families with a less severely autistic child had fewer adjustment problems when more formal social support was also available to the family. The implications of these data for future research and for practice are discussed.

  12. Multidisciplinary Developmental Evaluation Improves Early Diagnosis of Infantile Autism.

    ERIC Educational Resources Information Center

    Siegel, B.; And Others

    A life-course perspective of the diagnostic histories of 75 autistic individuals (ages 4-25) was obtained through the use of parent surveys and a review of their charts. The study was made to understand better how children who presented with uneven or unusual behavioral development are identified as developmentally multihandicapped. Areas examined…

  13. Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism

    NASA Astrophysics Data System (ADS)

    Anzulewicz, Anna; Sobota, Krzysztof; Delafield-Butt, Jonathan T.

    2016-08-01

    Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3-6 years old with autism and 45 age- and gender-matched children developing typically. Machine learning analysis of the children’s motor patterns identified autism with up to 93% accuracy. Analysis revealed these patterns consisted of greater forces at contact and with a different distribution of forces within a gesture, and gesture kinematics were faster and larger, with more distal use of space. These data support the notion disruption to movement is core feature of autism, and demonstrate autism can be computationally assessed by fun, smart device gameplay.

  14. Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism.

    PubMed

    Anzulewicz, Anna; Sobota, Krzysztof; Delafield-Butt, Jonathan T

    2016-08-24

    Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3-6 years old with autism and 45 age- and gender-matched children developing typically. Machine learning analysis of the children's motor patterns identified autism with up to 93% accuracy. Analysis revealed these patterns consisted of greater forces at contact and with a different distribution of forces within a gesture, and gesture kinematics were faster and larger, with more distal use of space. These data support the notion disruption to movement is core feature of autism, and demonstrate autism can be computationally assessed by fun, smart device gameplay.

  15. Toward the Autism Motor Signature: Gesture patterns during smart tablet gameplay identify children with autism

    PubMed Central

    Anzulewicz, Anna; Sobota, Krzysztof; Delafield-Butt, Jonathan T.

    2016-01-01

    Autism is a developmental disorder evident from infancy. Yet, its clinical identification requires expert diagnostic training. New evidence indicates disruption to motor timing and integration may underpin the disorder, providing a potential new computational marker for its early identification. In this study, we employed smart tablet computers with touch-sensitive screens and embedded inertial movement sensors to record the movement kinematics and gesture forces made by 37 children 3–6 years old with autism and 45 age- and gender-matched children developing typically. Machine learning analysis of the children’s motor patterns identified autism with up to 93% accuracy. Analysis revealed these patterns consisted of greater forces at contact and with a different distribution of forces within a gesture, and gesture kinematics were faster and larger, with more distal use of space. These data support the notion disruption to movement is core feature of autism, and demonstrate autism can be computationally assessed by fun, smart device gameplay. PMID:27553971

  16. Very Early Processing Skills and Language Acquisition in Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Kushner, Nicole Blake

    2017-01-01

    With the increasing prevalence of autism diagnoses, large percentage of diagnosed individuals with comorbid language difficulties, and negative effects of these difficulties on language development and overall functioning, research on language acquisition in children diagnosed with autism spectrum disorder is essential. The current study used data…

  17. Review of Part 67 of the Federal Air Regulations and the Medical Certification of Civilian Airmen. Volume 1

    DTIC Science & Technology

    1983-01-01

    schizoaffective disorder and atypical psycho3, infantile autism , childhood onset pervasive developmental disorder, and atypical pervasive devvlopmental...classified, including schizophreniform disorder, brief reactive psychosis, schizoaffective disorder and atypical psychosis, infantile autism ...procedures if the applicant !S free of symptoms and postoperative complications. After splenectomy, vaccination against pneumococcus is recommended, Awms and

  18. Infantile methemoglobinemia: reexamining the role of drinking water nitrates.

    PubMed Central

    Avery, A A

    1999-01-01

    Ingestion of nitrates in drinking water has long been thought to be a primary cause of acquired infantile methemoglobinemia, often called blue baby syndrome. However, recent research and a review of historical cases offer a more complex picture of the causes of infantile methemoglobinemia. Gastrointestinal infection and inflammation and the ensuing overproduction of nitric oxide may be the cause of many cases of infantile methemoglobinemia previously attributed to drinking water nitrates. If so, current limits on allowable levels of nitrates in drinking water, which are based solely on the health threat of infantile methemoglobinemia, may be unnecessarily strict. Images Figure 1 Figure 2 PMID:10379005

  19. Early Social Interaction Project for Children with Autism Spectrum Disorders Beginning in the Second Year of Life: A Preliminary Study

    ERIC Educational Resources Information Center

    Wetherby, Amy M.; Woods, Juliann J.

    2006-01-01

    The Early Social Interaction (ESI) Project (Woods & Wetherby, 2003) was designed to apply the recommendations of the National Research Council (2001) to toddlers with autism spectrum disorders (ASD) by using a parent-implemented intervention that (a) embeds naturalistic teaching strategies in everyday routines and (b) is compatible with the…

  20. Korean culture and autism spectrum disorders.

    PubMed

    Kang-Yi, Christina D; Grinker, Roy R; Mandell, David S

    2013-03-01

    This paper reviews the literature on early child development among Koreans, with a focus on autism spectrum disorders (ASD). The literature review of 951 abstracts in English, 101 abstracts in Korean and 27 full articles published from 1994 to 2011 was performed to understand the presentation of and response to ASD in Korean culture. Based on research to date on the identification, description, and treatment of ASD in Korean populations, we argue that at both conceptual and practical levels, early child development and interventions must be understood within cultural context. Culturally informed research on ASD is vital for increasing awareness of the importance of early intervention and the need for educational and psychological services in countries in which autism is stigmatized, misdiagnosed or undiagnosed.

  1. Clinical Assessment and Management of Toddlers With Suspected Autism Spectrum Disorder: Insights From Studies of High-Risk Infants

    PubMed Central

    Zwaigenbaum, Lonnie; Bryson, Susan; Lord, Catherine; Rogers, Sally; Carter, Alice; Carver, Leslie; Chawarska, Kasia; Constantino, John; Dawson, Geraldine; Dobkins, Karen; Fein, Deborah; Iverson, Jana; Klin, Ami; Landa, Rebecca; Messinger, Daniel; Ozonoff, Sally; Sigman, Marian; Stone, Wendy; Tager-Flusberg, Helen; Yirmiya, Nurit

    2010-01-01

    With increased public awareness of the early signs and recent American Academy of Pediatrics recommendations that all 18- and 24-month-olds be screened for autism spectrum disorders, there is an increasing need for diagnostic assessment of very young children. However, unique challenges exist in applying current diagnostic guidelines for autism spectrum disorders to children under the age of 2 years. In this article, we address challenges related to early detection, diagnosis, and treatment of autism spectrum disorders in this age group. We provide a comprehensive review of findings from recent studies on the early development of children with autism spectrum disorders, summarizing current knowledge on early signs of autism spectrum disorders, the screening properties of early detection tools, and current best practice for diagnostic assessment of autism spectrum disorders before 2 years of age. We also outline principles of effective intervention for children under the age of 2 with suspected/confirmed autism spectrum disorders. It is hoped that ongoing studies will provide an even stronger foundation for evidence-based diagnostic and intervention approaches for this critically important age group. PMID:19403506

  2. The association between infantile postural asymmetry and unsettled behaviour in babies.

    PubMed

    Ellwood, Julie; Ford, Michael; Nicholson, Alf

    2017-12-01

    Unsettled infant behaviour is a common problem of infancy without known aetiology or clearly effective management. Some manual therapists propose that musculoskeletal dysfunction contributes to unsettled infant behaviour, yet reported improvement following treatment is anecdotal. The infantile postural asymmetry measurement scale is a tool which measures infantile asymmetry, a form of musculoskeletal dysfunction. The first part of the study aimed to investigate its reliability and validity for measuring infantile postural asymmetry. This study also aimed to investigate whether there was an association between infantile postural asymmetry and unsettled infant behaviour and whether an association was mediated by, or confounded with, the demographic variables of age, sex, parity, birth weight and weight gain in 12- to 16-week-old infants. Fifty-eight infants were recruited and a quantitative cross-sectional observational design was used. An association between unsettled behaviour and infantile postural asymmetry was not found. A significant difference between high and low cervical rotation deficit groups for surgency was detected in female babies and needs further examination. Questions remain regarding the construct validity of the infantile postural asymmetry scale. No association between unsettled infant behaviour and infantile postural asymmetry was found in 12- to 16-week-old infants. The influence of sex on the interaction between infantile postural asymmetry and infant behaviour needs further examination. An association between unsettled infant behaviour and infantile postural asymmetry is still unproven. What is known: • Unsettled infant behaviour has a considerable impact on many family situations. • Identifying a definitive cause has been a source of much examination and research. Many different hypotheses have been suggested yet much is still unknown. What is new: • The association between unsettled infant behaviour and infantile postural asymmetry is

  3. Elevated fetal steroidogenic activity in autism

    PubMed Central

    Baron-Cohen, S; Auyeung, B; Nørgaard-Pedersen, B; Hougaard, D M; Abdallah, M W; Melgaard, L; Cohen, A S; Chakrabarti, B; Ruta, L; Lombardo, M V

    2015-01-01

    Autism affects males more than females, giving rise to the idea that the influence of steroid hormones on early fetal brain development may be one important early biological risk factor. Utilizing the Danish Historic Birth Cohort and Danish Psychiatric Central Register, we identified all amniotic fluid samples of males born between 1993 and 1999 who later received ICD-10 (International Classification of Diseases, 10th Revision) diagnoses of autism, Asperger syndrome or PDD-NOS (pervasive developmental disorder not otherwise specified) (n=128) compared with matched typically developing controls. Concentration levels of Δ4 sex steroids (progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone) and cortisol were measured with liquid chromatography tandem mass spectrometry. All hormones were positively associated with each other and principal component analysis confirmed that one generalized latent steroidogenic factor was driving much of the variation in the data. The autism group showed elevations across all hormones on this latent generalized steroidogenic factor (Cohen's d=0.37, P=0.0009) and this elevation was uniform across ICD-10 diagnostic label. These results provide the first direct evidence of elevated fetal steroidogenic activity in autism. Such elevations may be important as epigenetic fetal programming mechanisms and may interact with other important pathophysiological factors in autism. PMID:24888361

  4. Extraocular Muscles in Patients With Infantile Nystagmus

    PubMed Central

    Berg, Kathleen T.; Hunter, David G.; Bothun, Erick D.; Antunes-Foschini, Rosalia; McLoon, Linda K.

    2013-01-01

    Objective To test the hypothesis that the extraocular muscles (EOMs) of patients with infantile nystagmus have muscular and innervational adaptations that may have a role in the involuntary oscillations of the eyes. Methods Specimens of EOMs from 10 patients with infantile nystagmus and postmortem specimens from 10 control subjects were prepared for histologic examination. The following variables were quantified: mean myofiber cross-sectional area, myofiber central nucleation, myelinated nerve density, nerve fiber density, and neuromuscular junction density. Results In contrast to control EOMs, infantile nystagmus EOMs had significantly more centrally nucleated myofibers, consistent with cycles of degeneration and regeneration. The EOMs of patients with nystagmus also had a greater degree of heterogeneity in myofiber size than did those of controls, with no difference in mean myofiber cross-sectional area. Mean myelinated nerve density, nerve fiber density, and neuromuscular junction density were also significantly decreased in infantile nystagmus EOMs. Conclusions The EOMs of patients with infantile nystagmus displayed a distinct hypoinnervated phenotype. This represents the first quantification of changes in central nucleation and myofiber size heterogeneity, as well as decreased myelinated nerve, nerve fiber, and neuromuscular junction density. These results suggest that deficits in motor innervation are a potential basis for the primary loss of motor control. Clinical Relevance Improved understanding of the etiology of nystagmus may direct future diagnostic and treatment strategies. PMID:22411664

  5. 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.

  6. Early social communication in infants with fragile X syndrome and infant siblings of children with autism spectrum disorder.

    PubMed

    Hahn, Laura J; Brady, Nancy C; McCary, Lindsay; Rague, Lisa; Roberts, Jane E

    2017-12-01

    Little research in fragile X syndrome (FXS) has prospectively examined early social communication. To compare early social communication in infants with FXS, infant siblings of children with autism spectrum disorder (ASIBs), and typically developing (TD) infants. Participants were 18 infants with FXS, 21 ASIBs, and 22 TD infants between 7.5-14.5 months. Social communication was coded using the Communication Complexity Scale during the administration of Autism Observation Scale for Infants. Descriptively different patterns were seen across the three groups. Overall infants with FXS had lower social communication than ASIBs or TD infants when controlling for nonverbal cognitive abilities. However, infants with FXS had similar levels of social communication as ASIBs or TD infants during peek-a-boo. No differences were observed between ASIBs and TD infants. For all infants, higher social communication was related to lower ASD risk. Findings provide insight into the developmental course of social communication in FXS. The dynamic nature of social games may help to stimulate communication in infants with FXS. Language interventions with a strong social component may be particularly effective for promoting language development in FXS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  7. Infantile myofibromatosis.

    PubMed

    Larralde, Margarita; Ferrari, Bruno; Martinez, Juan Pablo; Barbieri, María Angélica Fernández; Méndez, José Higinio; Casas, José

    2017-01-01

    Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.

  8. 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

  9. 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.

  10. Response to Early Intensive Behavioral Intervention for autism--an umbrella approach to issues critical to treatment individualization.

    PubMed

    Fava, Leonardo; Strauss, Kristin

    2014-12-01

    Integrating knowledge across the disciplines of genetics, neurological, and behavioral science targets, so far, early identification of children with autism and thus early access to intervention. Cross-discipline collaboration might be substantially improve treatment efficacy via individualized treatment based on the child and family needs, consistency across treatment providers and careful planning of skill curricula, setting and techniques. This paper documents the current state of five main issues critical to treatment individualization where cross-discipline collaboration is warranted: (1) developmental timing, (2) treatment intensity, (3) heterogeneity in treatment response, (4) program breath and flexibility, and (5) formats of treatment provision. Copyright © 2014 ISDN. Published by Elsevier Ltd. All rights reserved.

  11. Potential serum biomarkers from a metabolomics study of autism

    PubMed Central

    Wang, Han; Liang, Shuang; Wang, Maoqing; Gao, Jingquan; Sun, Caihong; Wang, Jia; Xia, Wei; Wu, Shiying; Sumner, Susan J.; Zhang, Fengyu; Sun, Changhao; Wu, Lijie

    2016-01-01

    Background Early detection and diagnosis are very important for autism. Current diagnosis of autism relies mainly on some observational questionnaires and interview tools that may involve a great variability. We performed a metabolomics analysis of serum to identify potential biomarkers for the early diagnosis and clinical evaluation of autism. Methods We analyzed a discovery cohort of patients with autism and participants without autism in the Chinese Han population using ultra-performance liquid chromatography quadrupole time-of-flight tandem mass spectrometry (UPLC/Q-TOF MS/MS) to detect metabolic changes in serum associated with autism. The potential metabolite candidates for biomarkers were individually validated in an additional independent cohort of cases and controls. We built a multiple logistic regression model to evaluate the validated biomarkers. Results We included 73 patients and 63 controls in the discovery cohort and 100 cases and 100 controls in the validation cohort. Metabolomic analysis of serum in the discovery stage identified 17 metabolites, 11 of which were validated in an independent cohort. A multiple logistic regression model built on the 11 validated metabolites fit well in both cohorts. The model consistently showed that autism was associated with 2 particular metabolites: sphingosine 1-phosphate and docosahexaenoic acid. Limitations While autism is diagnosed predominantly in boys, we were unable to perform the analysis by sex owing to difficulty recruiting enough female patients. Other limitations include the need to perform test–retest assessment within the same individual and the relatively small sample size. Conclusion Two metabolites have potential as biomarkers for the clinical diagnosis and evaluation of autism. PMID:26395811

  12. Interventions Targeting Attention in Young Children with Autism

    ERIC Educational Resources Information Center

    Patten, Elena; Watson, Linda R.

    2011-01-01

    Purpose: The ability to focus and sustain one's attention is critical for learning. Children with autism demonstrate unusual characteristics of attention from infancy. It is reasonable to assume that early anomalies in attention influence a child's developmental trajectories. Therapeutic interventions for autism often focus on core features of…

  13. Early Intensive Behavioral Intervention (EIBI) for Young Children with Autism Spectrum Disorders (ASD): A Systematic Review. Campbell Systematic Reviews 2014:9

    ERIC Educational Resources Information Center

    Reichow, Brian; Barton, Erin E.; Boyd, Brian A.; Hume, Kara

    2014-01-01

    Background: The rising prevalence of autism spectrum disorders (ASD) increases the need for evidence-based behavioral treatments to lessen the impact of symptoms on children's functioning. At present, there are no curative or psychopharmacological therapies to effectively treat all symptoms of the disorder. Early intensive behavioral intervention…

  14. Influence of Autism Traits and Executive Functioning on Quality of Life in Children with an Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    de Vries, Marieke; Geurts, Hilde

    2015-01-01

    Children with Autism Spectrum Disorders (ASDs) often experience a low Quality of Life (QoL). We studied if IQ, early language development, current autism traits, and daily Executive Functions (EFs) are related to QoL in children (aged 8-12 years) with ASD (N = 120) and typically developing (TD) children (N = 76). Children with ASD showed a lower…

  15. [Specificity hypothesis of a theory of mind deficit in early childhood autism].

    PubMed

    Kissgen, R; Schleiffer, R

    2002-02-01

    In order to test the hypothesis that a theory of mind deficit is specific for autism, the present study presents the first replication of the Sally-Anne test (Baron-Cohen, Leslie & Frith, 1985) in the German-speaking countries. The Sally-Anne test was administered to 16 autistic, 24 probands with Down's syndrome and 20 normal preschool prosands. The intelligence of the autistic group and that with Down's syndrome was measured by the CPM/SPM. In addition, the ADI-R was used with the principal caregivers of the autistic and Down's syndrome subjects. With regard to the clinical diagnosis, theory of mind deficit turned out to be not specific for autism. Six of 16 (37.5%) autistic subjects passed the theory of mind tasks. Thus performance in the autistic group surpassed that of both control groups. Out of 16 autistic subjects, autism could be confirmed in only 8 on the basis of the ADI-R diagnostic criteria, only one of whom showed a theory of mind. The autistic individuals with a theory of mind differed significantly in their mean IQ from those without this ability. Spectrum and specificity of a theory of mind deficit in autism remain controversial. For further research it seems important to administer the ADI-R during the diagnostic process. The findings suggest that the clinical diagnosis of autism is not precise enough to distinguish between autism and nonautistic mental handicap.

  16. Variable sensory perception in autism.

    PubMed

    Haigh, Sarah M

    2018-03-01

    Autism is associated with sensory and cognitive abnormalities. Individuals with autism generally show normal or superior early sensory processing abilities compared to healthy controls, but deficits in complex sensory processing. In the current opinion paper, it will be argued that sensory abnormalities impact cognition by limiting the amount of signal that can be used to interpret and interact with environment. There is a growing body of literature showing that individuals with autism exhibit greater trial-to-trial variability in behavioural and cortical sensory responses. If multiple sensory signals that are highly variable are added together to process more complex sensory stimuli, then this might destabilise later perception and impair cognition. Methods to improve sensory processing have shown improvements in more general cognition. Studies that specifically investigate differences in sensory trial-to-trial variability in autism, and the potential changes in variability before and after treatment, could ascertain if trial-to-trial variability is a good mechanism to target for treatment in autism. © 2017 Federation of European Neuroscience Societies and John Wiley & Sons Ltd.

  17. Longitudinal MRI Study of Cortical Development through Early Childhood in Autism

    PubMed Central

    Schumann, C.M.; Bloss, C.S.; Barnes, C. Carter; Wideman, G.M.; Carper, R.A.; Akshoomoff, N.; Pierce, K.; Hagler, D.; Schork, N.; Lord, C.; Courchesne, E.

    2010-01-01

    Cross-sectional MRI studies have long hypothesized that the brain in children with autism undergoes an abnormal growth trajectory that includes a period of early overgrowth; however this has never been confirmed by a longitudinal study. We carried out the first longitudinal study of brain growth in toddlers at the time symptoms of autism are becoming clinically apparent utilizing structural MRI scans at multiple time points beginning at 1.5 years up to 5 years of age. We collected 193 scans on 41 toddlers who received a confirmed diagnosis of Autistic Disorder at ~48 months of age and 44 typically developing controls. By 2.5 years of age, both cerebral gray and white matter was significantly enlarged in toddlers with Autistic Disorder, with the most severe enlargement occurring in frontal, temporal and cingulate cortices. In the longitudinal analyses, which we accounted for age and gender effect, we found that all regions (cerebral gray, cerebral white, frontal gray, temporal gray, cingulate gray, and parietal gray) except occipital gray developed at an abnormal growth rate in toddlers with Autistic Disorder that was mainly characterized by a quadratic age effect. Females with Autistic Disorder displayed a more pronounced abnormal growth profile in more brain regions than males with the disorder. Given that overgrowth clearly begins before 2 years of age, future longitudinal studies would benefit from inclusion of even younger populations as well as further characterization of genetic and other biomarkers in order to determine the underlying neuropathological processes causing the onset of autistic symptoms. PMID:20335478

  18. MRI Brain Volume Measurements in Infantile Neuronal Ceroid Lipofuscinosis.

    PubMed

    Baker, E H; Levin, S W; Zhang, Z; Mukherjee, A B

    2017-02-01

    Infantile neuronal ceroid lipofuscinosis is a devastating neurodegenerative storage disease caused by palmitoyl-protein thioesterase 1 deficiency, which impairs degradation of palmitoylated proteins (constituents of ceroid) by lysosomal hydrolases. Consequent lysosomal ceroid accumulation leads to neuronal injury, resulting in rapid neurodegeneration and childhood death. As part of a project studying the treatment benefits of a combination of cysteamine bitartrate and N -acetyl cysteine, we made serial measurements of patients' brain volumes with MR imaging. Ten patients with infantile neuronal ceroid lipofuscinosis participating in a treatment/follow-up study underwent brain MR imaging that included high-resolution T1-weighted images. After manual placement of a mask delineating the surface of the brain, a maximum-likelihood classifier was applied to determine total brain volume, further subdivided as cerebrum, cerebellum, brain stem, and thalamus. Patients' brain volumes were compared with those of a healthy population. Major subdivisions of the brain followed similar trajectories with different timing. The cerebrum demonstrated early, rapid volume loss and may never have been normal postnatally. The thalamus dropped out of the normal range around 6 months of age; the cerebellum, around 2 years of age; and the brain stem, around 3 years of age. Rapid cerebral volume loss was expected on the basis of previous qualitative reports. Because our study did not include a nontreatment arm and because progression of brain volumes in infantile neuronal ceroid lipofuscinosis has not been previously quantified, we could not determine whether our intervention had a beneficial effect on brain volumes. However, the level of quantitative detail in this study allows it to serve as a reference for evaluation of future therapeutic interventions. © 2017 by American Journal of Neuroradiology.

  19. Savant Syndrome: Realities, Myths and Misconceptions

    ERIC Educational Resources Information Center

    Treffert, Darold A.

    2014-01-01

    It was 126 years ago that Down first described savant syndrome as a specific condition and 70 years ago that Kanner first described Early Infantile Autism. While as many as one in ten autistic persons have savant abilities, such special skills occur in other CNS conditions as well such that approximately 50% of cases of savant syndrome have autism…

  20. Genetics of Severe Early Onset Epilepsies

    ClinicalTrials.gov

    2017-08-24

    Epilepsy; Epileptic Encephalopathy; Ohtahara Syndrome; Infantile Spasms; Dravet Syndrome; Malignant Migrating Partial Epilepsy of Infancy; Early Myoclonic Epileptic Encephalopathy; PCDH19-related Epilepsy and Related Conditions

  1. Autism with intellectual disability related to dynamics of head circumference growth during early infancy.

    PubMed

    McKeague, Ian W; Brown, Alan S; Bao, Yuanyuan; Hinkka-Yli-Salomäki, Susanna; Huttunen, Jukka; Sourander, Andre

    2015-05-01

    It is not yet definitively known whether dynamic features of head circumference growth are associated with autism. To address this issue, we carried out a nested matched case-control study using data from national well baby clinics in Finland; autism cases were identified from the Finnish Hospital and Outpatient Discharge Registry. A nonparametric Bayesian method was used to construct growth velocity trajectories between birth and 2 years of age in autism cases and matched control subjects (n = 468 in main analyses, 1:1 matched control subjects). Estimates of odds ratios for autism risk in relation to the growth velocities were obtained using conditional logistic regression. Growth velocity of head circumference at 3 months of age, adjusting for gestational age at birth and maternal age, is significantly associated with autism (p = .014); the finding was observed in subjects with comorbid intellectual disability (ID) (p = .025) but not in those without ID (p = .15). Height growth velocity among subjects with autism and without ID is significantly associated with autism at 6 months (p = .007), and weight growth velocity at 18 months without ID (p = .02) and 24 months without ID (p = .042) and with ID (p = .037). Acceleration in head circumference growth is associated with autism with comorbid ID at 3 months but not subsequently. This association is unrelated to acceleration in height and weight, which are not strongly associated with autism until after 6 months. Copyright © 2015 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  2. Children who screen positive for autism at 2.5 years and receive early intervention: a prospective naturalistic 2-year outcome study

    PubMed Central

    Spjut Jansson, Birgitta; Miniscalco, Carmela; Westerlund, Joakim; Kantzer, Anne-Katrin; Fernell, Elisabeth; Gillberg, Christopher

    2016-01-01

    Background Previous research has stressed the importance of early identification and intervention for children with autism spectrum disorders. Methods Children who had screened positive for autism at the age of 2.5 years in a general population screening and then received a diagnosis of autism spectrum disorder were enrolled in an intervention program provided by Swedish habilitation services. The following interventions were available: a comprehensive intervention based on Applied Behavior Analysis – Intensive Learning (IL) – in two settings, which included home- and preschool-based (IL Regular) and only home-based (IL Modified) and eclectic interventions. Results There was considerable variability in terms of outcome, but intervention group status was not associated with any of the chosen outcome variables. Conclusion The main finding was that the type of intervention was not critical for outcome of adaptive or global functioning. The variability in outcome demonstrates the need for continuous assessments and evaluation of the child’s function and behavior throughout the intervention period. PMID:27621636

  3. Physiological Regulation and Infantile Anorexia: A Pilot Study

    ERIC Educational Resources Information Center

    Chatoor, Irene; Ganiban, Jody; Surles, Jaclyn; Doussard-Roosevelt, Jane

    2004-01-01

    Objective: To examine whether infantile anorexia is associated with physiological dysregulation. Method: This study included eight toddlers with infantile anorexia and eight healthy eaters matched for age, race, socioeconomic status, and gender. Physiological measures of heart period and respiratory sinus arrhythmia were assessed across three…

  4. Hyperconnectivity and slow synapses during early development of medial prefrontal cortex in a mouse model for mental retardation and autism.

    PubMed

    Testa-Silva, Guilherme; Loebel, Alex; Giugliano, Michele; de Kock, Christiaan P J; Mansvelder, Huibert D; Meredith, Rhiannon M

    2012-06-01

    Neuronal theories of neurodevelopmental disorders (NDDs) of autism and mental retardation propose that abnormal connectivity underlies deficits in attentional processing. We tested this theory by studying unitary synaptic connections between layer 5 pyramidal neurons within medial prefrontal cortex (mPFC) networks in the Fmr1-KO mouse model for mental retardation and autism. In line with predictions from neurocognitive theory, we found that neighboring pyramidal neurons were hyperconnected during a critical period in early mPFC development. Surprisingly, excitatory synaptic connections between Fmr1-KO pyramidal neurons were significantly slower and failed to recover from short-term depression as quickly as wild type (WT) synapses. By 4-5 weeks of mPFC development, connectivity rates were identical for both KO and WT pyramidal neurons and synapse dynamics changed from depressing to facilitating responses with similar properties in both groups. We propose that the early alteration in connectivity and synaptic recovery are tightly linked: using a network model, we show that slower synapses are essential to counterbalance hyperconnectivity in order to maintain a dynamic range of excitatory activity. However, the slow synaptic time constants induce decreased responsiveness to low-frequency stimulation, which may explain deficits in integration and early information processing in attentional neuronal networks in NDDs.

  5. Hyperconnectivity and Slow Synapses during Early Development of Medial Prefrontal Cortex in a Mouse Model for Mental Retardation and Autism

    PubMed Central

    Testa-Silva, Guilherme; Loebel, Alex; Giugliano, Michele; de Kock, Christiaan P.J.; Mansvelder, Huibert D.; Meredith, Rhiannon M.

    2013-01-01

    Neuronal theories of neurodevelopmental disorders (NDDs) of autism and mental retardation propose that abnormal connectivity underlies deficits in attentional processing. We tested this theory by studying unitary synaptic connections between layer 5 pyramidal neurons within medial prefrontal cortex (mPFC) networks in the Fmr1-KO mouse model for mental retardation and autism. In line with predictions from neurocognitive theory, we found that neighboring pyramidal neurons were hyperconnected during a critical period in early mPFC development. Surprisingly, excitatory synaptic connections between Fmr1-KO pyramidal neurons were significantly slower and failed to recover from short-term depression as quickly as wild type (WT) synapses. By 4--5 weeks of mPFC development, connectivity rates were identical for both KO and WT pyramidal neurons and synapse dynamics changed from depressing to facilitating responses with similar properties in both groups. We propose that the early alteration in connectivity and synaptic recovery are tightly linked: using a network model, we show that slower synapses are essential to counterbalance hyperconnectivity in order to maintain a dynamic range of excitatory activity. However, the slow synaptic time constants induce decreased responsiveness to low-frequency stimulation, which may explain deficits in integration and early information processing in attentional neuronal networks in NDDs. PMID:21856714

  6. [Current status of autism studies].

    PubMed

    Kurita, H

    2001-01-01

    evaluate various autism treatments now practiced and to integrate effective ones into an efficient therapeutic system. Early diagnosis of PDD, support for the mother to develop a better relationship with her autistic infant, enrollment of an autistic infant in a day care for handicapped or non-handicapped infants, education in a relevant school, vocational training, treatment of behavior problems, and establishing social welfare services are a framework of the therapeutic system of autism. Much should be done to improve the long-term outcome of autism patients, including high-functioning autism.

  7. Convergent Validity of the Mullen Scales of Early Learning and the Differential Ability Scales in Children with Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Bishop, Somer L.; Guthrie, Whitney; Coffing, Mia; Lord, Catherine

    2011-01-01

    Despite widespread use of the Mullen Scales of Early Learning (MSEL; E. M. Mullen, 1995) as a cognitive test for children with autism spectrum disorders and other developmental disabilities, the instrument has not been independently validated for use in these populations. Convergent validity of the MSEL and the Differential Ability Scales (DAS; C.…

  8. Self-Referenced Processing, Neurodevelopment and Joint Attention in Autism

    ERIC Educational Resources Information Center

    Mundy, Peter; Gwaltney, Mary; Henderson, Heather

    2010-01-01

    This article describes a parallel and distributed processing model (PDPM) of joint attention, self-referenced processing and autism. According to this model, autism involves early impairments in the capacity for rapid, integrated processing of self-referenced (proprioceptive and interoceptive) and other-referenced (exteroceptive) information.…

  9. Diagnosing High Incidence Autism Spectrum Disorders in Adults

    ERIC Educational Resources Information Center

    Matson, Johnny L.; Neal, Daniene

    2009-01-01

    Autism spectrum disorders (ASDs), particularly the high incidence conditions of autism, PDD NOS, and Asperger's Syndrome, have become increasingly popular topics of study in the mental health field. Traditionally, the focus has been on young children and early recognition and diagnosis. However, given that these conditions are life long in nature,…

  10. Intervening in Infancy: Implications for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Wallace, Katherine S.; Rogers, Sally J.

    2010-01-01

    There is a scarcity of empirically validated treatments for infants and toddlers under age 3 years with autism spectrum disorders (ASD), as well as a scarcity of empirical investigation into successful intervention characteristics for this population. Yet early screening efforts are focused on identifying autism risk in children under age 3 years.…

  11. The effects of an early motor skill intervention on motor skills, levels of physical activity, and socialization in young children with autism spectrum disorder: A pilot study.

    PubMed

    Ketcheson, Leah; Hauck, Janet; Ulrich, Dale

    2017-05-01

    Despite evidence suggesting one of the earliest indicators of an eventual autism spectrum disorder diagnoses is an early motor delay, there remain very few interventions targeting motor behavior as the primary outcome for young children with autism spectrum disorder. The aim of this pilot study was to measure the efficacy of an intensive motor skill intervention on motor skills (Test of Gross Motor Development-2), physical activity (accelerometers), and socialization (Playground Observation of Peer Engagement) in young children with autism spectrum disorder. A total of 20 children with autism spectrum disorder aged 4-6 years participated. The experimental group ( n = 11) participated in an 8-week intervention consisting of motor skill instruction for 4 h/day, 5 days/week. The control group ( n = 9) did not receive the intervention. A repeated-measures analysis of covariance revealed statistically significant differences between groups in all three motor outcomes, locomotor ( F(1, 14) = 10.07, p < 0.001, partial η 2  = 0.42), object control ( F(1, 14) = 12.90, p < 0.001, partial η 2  = 0.48), and gross quotient ( F(1, 14) = 15.61, p < 0.01, partial η 2  = 0.53). Findings shed light on the importance of including motor programming as part of the early intervention services delivered to young children with autism spectrum disorder.

  12. Become Related: FIAS, an Intensive Early Intervention for Young Children with Autism Spectrum Disorders.

    PubMed

    Herbrecht, Evelyn; Kievit, Esther; Spiegel, René; Dima, Diana; Goth, Kirstin; Schmeck, Klaus

    2015-01-01

    In autism spectrum disorders (ASDs), impairments in fundamental social abilities and a lack of interest in social stimuli become apparent early in life. These impairments are thought to negatively affect further brain and behavioural development. Early intensive interventions can help to attenuate social-development and other risk factors and, thus, to ameliorate the deficits associated with ASDs. We present FIAS, an intensive early intervention approach for young children with ASD, which aims at developing children's social motivation. During 18 days, therapists work continuously for 6 h a day with the affected child, involving the whole family in a day care setting. Follow-up care at home over 1 year as well as fresh-up interventions and inclusion in kindergarten or a play group should stabilise the effects and help to respond to further challenges. Here, we present observations from the first 12 patients (25-48 months of age) treated according to the FIAS approach. We evaluated changes in core autistic symptoms and level of functioning after the 18 days of intensive intervention. Beyond standardised assessment, two innovative video-based instruments (Autism Behaviour Coding System and Evaluationsfragebogen) have been developed to assess autistic symptoms and interaction parameters during intervention. Improvements were noted in most core autistic symptom domains, with the highest effect sizes in domains like eye contact, communication, repetitive behaviour, imitation, motivation and reciprocity. In addition, the level of functioning significantly improved. The first evaluation of the FIAS approach shows promising results, as the FIAS intervention appears to improve core autistic symptom domains as well as the level of everyday functioning. Limitations of this study are the small sample size and the lack of a control group. A more comprehensive and longitudinal evaluation is in progress; this will focus on the stability of the observed effects and will attempt to

  13. The Modified Checklist for Autism in Toddlers: A Follow-Up Study Investigating the Early Detection of Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Kleinman, Jamie M.; Robins, Diana L.; Ventola, Pamela E.; Pandey, Juhi; Boorstein, Hilary C.; Esser, Emma L.; Wilson, Leandra B.; Rosenthal, Michael A.; Sutera, Saasha; Verbalis, Alyssa D.; Barton, Marianne; Hodgson, Sarah; Green, James; Dumont-Mathieu, Thyde; Volkmar, Fred; Chawarska, Katarzyna; Klin, Ami; Fein, Deborah

    2008-01-01

    Autism spectrum disorders (ASD) often go undetected in toddlers. The Modified Checklist for Autism in Toddlers (M-CHAT) was used to screen 3,793 children aged 16-30 months from low- and high-risk sources; screen positive cases were diagnostically evaluated. Re-screening was performed on 1,416 children aged 42-54 months. Time1 Positive Predictive…

  14. COMPARED TO WHAT? EARLY BRAIN OVERGROWTH IN AUTISM AND THE PERILS OF POPULATION NORMS

    PubMed Central

    Raznahan, Armin; Wallace, Gregory L; Antezana, Ligia; Greenstein, Dede; Lenroot, Rhoshel; Thurm, Audrey; Gozzi, Marta; Spence, Sarah; Martin, Alex; Swedo, Susan E; Giedd, Jay N

    2013-01-01

    Background Early brain overgrowth (EBO) in autism spectrum disorder (ASD) is amongst the best-replicated biological associations in psychiatry. Most positive reports have compared head circumference (HC) in ASD (an excellent proxy for early brain size) with well-known reference norms. We sought to reappraise evidence for the EBO hypothesis given (i) the recent proliferation of longitudinal HC studies in ASD, and (ii) emerging reports that several of the reference norms used to define EBO in ASD may be biased towards detecting HC overgrowth in contemporary samples of healthy children. Methods (1)Systematic review of all published HC studies in children with ASD. (2)Comparison of 330 longitudinally gathered HC measures between birth and 18 months from male children with autism(n=35) and typically developing controls(n=22). Results In systematic review, comparisons with locally recruited controls were significantly less likely to identify EBO in ASD than norm-based studies(p<0.006). Through systematic review and analysis of new data we replicate seminal reports of EBO in ASD relative to classical HC norms, but show that this overgrowth relative to norms is mimicked by patterns of HC growth age in a large contemporary community-based sample of US children(n~75,000). Controlling for known HC norm biases leaves inconsistent support for a subtle, later-emerging and sub-group specific pattern of EBO in clinically-ascertained ASD vs. community controls. Conclusions The best-replicated aspects of EBO reflect generalizable HC norm biases rather than disease-specific biomarkers. The potential HC norm biases we detail are not specific to ASD research, but apply throughout clinical and academic medicine. PMID:23706681

  15. Early pragmatic language difficulties in siblings of children with autism: implications for DSM-5 social communication disorder?

    PubMed

    Miller, Meghan; Young, Gregory S; Hutman, Ted; Johnson, Scott; Schwichtenberg, A J; Ozonoff, Sally

    2015-07-01

    We evaluated early pragmatic language skills in preschool-age siblings of children with autism spectrum disorder (ASD), and examined correspondence between pragmatic language impairments and general language difficulties, autism symptomatology, and clinical outcomes. Participants were younger siblings of children with ASD (high-risk, n = 188) or typical development (low-risk, n = 119) who were part of a prospective study of infants at risk for ASD; siblings without ASD outcomes were included in analyses. Pragmatic language skills were measured via the Language Use Inventory (LUI). At 36 months, the high-risk group had significantly lower parent-rated pragmatic language scores than the low-risk group. When defining pragmatic language impairment (PLI) as scores below the 10(th) percentile on the LUI, 35% of the high-risk group was identified with PLI versus 10% of the low-risk group. Children with PLI had higher rates of general language impairment (16%), defined as scores below the 10(th) percentile on the Receptive or Expressive Language subscales of the Mullen Scales of Early Learning, relative to those without PLI (3%), but most did not evidence general language impairments. Children with PLI had significantly higher ADOS scores than those without PLI and had higher rates of clinician-rated atypical clinical best estimate outcomes (49%) relative to those without PLI (15%). Pragmatic language problems are present in some siblings of children with ASD as early as 36 months of age. As the new DSM-5 diagnosis of Social (Pragmatic) Communication Disorder (SCD) is thought to occur more frequently in family members of individuals with ASD, it is possible that some of these siblings will meet criteria for SCD as they get older. Close monitoring of early pragmatic language development in young children at familial risk for ASD is warranted. © 2014 Association for Child and Adolescent Mental Health.

  16. Autism, oxytocin and interoception

    PubMed Central

    Quattrocki, E.; Friston, Karl

    2014-01-01

    Autism is a pervasive developmental disorder characterized by profound social and verbal communication deficits, stereotypical motor behaviors, restricted interests, and cognitive abnormalities. Autism affects approximately 1% of children in developing countries. Given this prevalence, identifying risk factors and therapeutic interventions are pressing objectives—objectives that rest on neurobiologically grounded and psychologically informed theories about the underlying pathophysiology. In this article, we review the evidence that autism could result from a dysfunctional oxytocin system early in life. As a mediator of successful procreation, not only in the reproductive system, but also in the brain, oxytocin plays a crucial role in sculpting socio-sexual behavior. Formulated within a (Bayesian) predictive coding framework, we propose that oxytocin encodes the saliency or precision of interoceptive signals and enables the neuronal plasticity necessary for acquiring a generative model of the emotional and social ‘self.’ An aberrant oxytocin system in infancy could therefore help explain the marked deficits in language and social communication – as well as the sensory, autonomic, motor, behavioral, and cognitive abnormalities – seen in autism. PMID:25277283

  17. Knowledge and Attitude of General Practitioners regarding Autism in Karachi, Pakistan

    ERIC Educational Resources Information Center

    Rahbar, Mohammad Hossein; Ibrahim, Khalid; Assassi, Parisa

    2011-01-01

    General practitioners (GPs) could have an important role in early diagnosis of autism. There have been no studies evaluating the knowledge of GPs regarding autism in Pakistan. We aimed to fill that gap by assessing knowledge and attitude of GPs in Karachi regarding autism. We conducted a cross-sectional survey of 348 GPs; only 148 (44.6%) had…

  18. Brief Report: Plasma Leptin Levels Are Elevated in Autism: Association with Early Onset Phenotype?

    ERIC Educational Resources Information Center

    Ashwood, Paul; Kwong, Christina; Hansen, Robin; Hertz-Picciotto, Irva; Croen, Lisa; Krakowiak, Paula; Walker, Wynn; Pessah, Isaac N.; Van de Water, Judy

    2008-01-01

    There is evidence of both immune dysregulation and autoimmune phenomena in children with autism spectrum disorders (ASD). We examined the hormone/cytokine leptin in 70 children diagnosed with autism (including 37 with regression) compared with 99 age-matched controls including 50 typically developing (TD) controls, 26 siblings without autism, and…

  19. Evidence for the Implementation of the Early Start Denver Model for Young Children With Autism Spectrum Disorder.

    PubMed

    Ryberg, Kayce H

    2015-01-01

    The Early Start Denver Model (ESDM) is a manualized comprehensive therapy for toddlers with autism spectrum disorder. It emphasizes interpersonal engagement through synchrony, rhythms, and reciprocity to decrease symptom severity and accelerate cognitive, social-emotional, and language development. To systematically review evidence regarding the use of the ESDM as an intervention for young children with autism spectrum disorder. PubMed, Scopus, Web of Science, Embase, and CINAHL were searched from 2010-2015 using predetermined inclusion criteria. Study methodology, participant characteristics, and outcomes were evaluated and quality of evidence was assigned. Eight articles met inclusion criteria and consisted of two randomized controlled trials, four controlled trials, and two observational cohort studies. Evidence quality ranged from low to high. The ESDM is an effective intervention that improves cognition, language, and adaptive behavior. ESDM strategies delivered in community group settings and in the home by parents have potential to be efficacious and feasible. © The Author(s) 2015.

  20. Self-Regulation and Quality of Life in High-Functioning Young Adults with Autism

    ERIC Educational Resources Information Center

    Dijkhuis, Renee R.; Ziermans, Tim B.; Van Rijn, Sophie; Staal, Wouter G.; Swaab, Hanna

    2017-01-01

    Background: Autism is generally associated with poor functional outcome but little is known about predictors of quality of life, especially during early adulthood. This study was conducted to assess subjective quality of life during early adulthood in high-functioning autism spectrum disorder and its relation with self-regulating abilities.…

  1. Autism Spectrum Disorders: Guidance on Providing Supports and Services to Young Children with Autism Spectrum Disorders and Their Families. Technical Assistance Manual.

    ERIC Educational Resources Information Center

    Osbourn, Pat; Scott, Fletcher

    2004-01-01

    The field of autism is rapidly changing with increased funding for research into causes and treatments of this Autism Spectrum Disorder. This document will focus primarily on behavioral and communication treatment approaches that may be used within early intervention and/or preschool special education. Other treatment approaches that are not…

  2. Autism in the Faroe Islands: Diagnostic Stability from Childhood to Early Adult Life

    PubMed Central

    Kočovská, Eva; Billstedt, Eva; Ellefsen, Asa; Kampmann, Hanna; Gillberg, I. Carina; Biskupstø, Rannvá; Andorsdóttir, Guðrið; Stóra, Tormóður; Minnis, Helen; Gillberg, Christopher

    2013-01-01

    Childhood autism or autism spectrum disorder (ASD) has been regarded as one of the most stable diagnostic categories applied to young children with psychiatric/developmental disorders. The stability over time of a diagnosis of ASD is theoretically interesting and important for various diagnostic and clinical reasons. We studied the diagnostic stability of ASD from childhood to early adulthood in the Faroe Islands: a total school age population sample (8–17-year-olds) was screened and diagnostically assessed for AD in 2002 and 2009. This paper compares both independent clinical diagnosis and Diagnostic Interview for Social and Communication Disorders (DISCO) algorithm diagnosis at two time points, separated by seven years. The stability of clinical ASD diagnosis was perfect for AD, good for “atypical autism”/PDD-NOS, and less than perfect for Asperger syndrome (AS). Stability of the DISCO algorithm subcategory diagnoses was more variable but still good for AD. Both systems showed excellent stability over the seven-year period for “any ASD” diagnosis, although a number of clear cases had been missed at the original screening in 2002. The findings support the notion that subcategories of ASD should be collapsed into one overarching diagnostic entity with subgrouping achieved on other “non-autism” variables, such as IQ and language levels and overall adaptive functioning. PMID:23476144

  3. 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.

  4. Children with Autism: Quality of Life and Parental Concerns

    ERIC Educational Resources Information Center

    Lee, Li-Ching; Harrington, Rebecca A.; Louie, Brian B.; Newschaffer, Craig J.

    2008-01-01

    Past research has shown that children with autism and their families have compromised quality of life (QOL) in several domains. This study examined QOL and parental concerns in children with autism during early childhood, childhood, and adolescence compared to children with Attention Deficit Disorder/Attention Deficit Hyperactivity Disorder…

  5. Clinical impact of early diagnosis of autism on the prognosis and parent-child relationships.

    PubMed

    Elder, Jennifer Harrison; Kreider, Consuelo Maun; Brasher, Susan N; Ansell, Margaret

    2017-01-01

    Autism spectrum disorder (ASD) refers to a lifelong condition that usually appears in late infancy or early childhood, and is characterized by social and communication deficits that impede optimal functioning. Despite widespread research and greater public awareness, ASD has an unclear etiology and no known cure, making it difficult to acquire accurate and timely diagnoses. In addition, once an ASD diagnosis is made, parents find it challenging to navigate the healthcare system and determine which interventions are most effective and appropriate for their child. A growing body of evidence supports the value of early diagnosis and treatment with evidence-based interventions, which can significantly improve the quality of life of individuals with ASD as well as of their carers and families. Particularly noteworthy are early interventions that occur in natural surroundings and can be modified to address age-related goals throughout the lifespan. Therefore, the purpose of this review is to: 1) provide readers with a brief background related to ASD; 2) describe commonly used screening instruments and tools for early diagnosis; 3) describe early interventions that have empirical support; and 4) discuss how the parent-child and family relationships can be affected through this process. This information can provide professionals with information they can use to assist families who make critical and potentially life-changing decisions for children with ASD.

  6. [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.

  7. Preconceptional and Prenatal Supplementary Folic Acid and Multivitamin Intake and Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Virk, Jasveer; Liew, Zeyan; Olsen, Jørn; Nohr, Ellen A.; Catov, Janet M.; Ritz, Beate

    2016-01-01

    Objective: To evaluate whether early folic acid supplementation during pregnancy prevents diagnosis of autism spectrum disorders in offspring. Methods: Information on autism spectrum disorder diagnosis was obtained from the National Hospital Register and the Central Psychiatric Register. We estimated risk ratios for autism spectrum disorders for…

  8. Behavioral Intervention for Young Children with Autism: A Manual for Parents and Professionals.

    ERIC Educational Resources Information Center

    Maurice, Catherine, Ed.; And Others

    This manual presents 21 chapters on the use of applied behavior analysis techniques with children who have autism. After an introductory chapter, three chapters consider the choice of an effective treatment, including: "Evaluating Claims about Treatments for Autism" (Gina Green); "Early Behavioral Intervention for Autism: What Does…

  9. Autism

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Autism KidsHealth / For Teens / Autism What's in this article? ... With Autism? Print en español Autismo What Is Autism? Autism (also called "autism spectrum disorder") is a ...

  10. Loss of Language in Early Development of Autism and Specific Language Impairment

    ERIC Educational Resources Information Center

    Pickles, Andrew; Simonoff, Emily; Conti-Ramsden, Gina; Falcaro, Milena; Simkin, Zoe; Charman, Tony; Chandler, Susie; Loucas, Tom; Baird, Gillian

    2009-01-01

    Background: Several authors have highlighted areas of overlap in symptoms and impairment among children with autism spectrum disorder (ASD) and children with specific language impairment (SLI). By contrast, loss of language and broadly defined regression have been reported as relatively specific to autism. We compare the incidence of language loss…

  11. Redox Abnormalities as a Vulnerability Phenotype for Autism and Related Alterations in CNS Development

    DTIC Science & Technology

    2011-10-01

    ming during pre- and post-natal neurodevelopment . Previously, we reported that many children with autism have abnormal plasma levels of metabolites...dysregulation in autism . 1. Introduction Autism is a behaviorally defined neurodevelopmental disor- der that usually presents in early childhood and is charac...Phenotype for Autism and Related Alterations in CNS Development PRINCIPAL INVESTIGATOR: Sandra Jill James, Ph.D

  12. Impaired face processing in autism: fact or artifact?

    PubMed

    Jemel, Boutheina; Mottron, Laurent; Dawson, Michelle

    2006-01-01

    Within the last 10 years, there has been an upsurge of interest in face processing abilities in autism which has generated a proliferation of new empirical demonstrations employing a variety of measuring techniques. Observably atypical social behaviors early in the development of children with autism have led to the contention that autism is a condition where the processing of social information, particularly faces, is impaired. While several empirical sources of evidence lend support to this hypothesis, others suggest that there are conditions under which autistic individuals do not differ from typically developing persons. The present paper reviews this bulk of empirical evidence, and concludes that the versatility and abilities of face processing in persons with autism have been underestimated.

  13. In the search for reliable biomarkers for the early diagnosis of autism spectrum disorder: the role of vitamin D.

    PubMed

    El-Ansary, Afaf; Cannell, John J; Bjørklund, Geir; Bhat, Ramesa Shafi; Al Dbass, Abeer M; Alfawaz, Hanan A; Chirumbolo, Salvatore; Al-Ayadhi, Laila

    2018-06-01

    Autism spectrum disorder (ASD) affects about 1% of the world's population. Vitamin D is thought to be essential for normal brain development and modulation of the immune system. Worldwide about 1 billion people are affected by vitamin D deficiency. High-sensitivity C-reactive protein (hs-CRP), cytochrome P450 2E1 (CYP2E1) and 8-hydroxy-2'-deoxyguanosine (8-OH-dG) are biomarkers related to inflammation and oxidative stress. In the present study, these biomarkers were together with serum 25-hydroxyvitamin D (25(OH)D 3 ) analyzed in 28 (mean age seven years) Saudi male patients with ASD. The study was conducted to determine if there is any relationship between vitamin D levels, the tested biomarkers and the presence and severity of ASD. The hope was to identify if these biomarkers may be useful for early ASD diagnosis. The Childhood Autism Rating Scale (CARS) and the Social Responsiveness Scale (SRS) were used to measure autism severity. The results of the ASD children were compared with 27 age and gender-matched neurotypical controls. The data indicated that Saudi patients with ASD have significantly lower plasma levels of 25(OH)D 3 than neurotypical controls (38 ng/ml compared to 56 ng/ml, respectively; [P = 0.001]). Surprisingly, the levels of CYP2E1 were lower in the children with ASD than the neurotypical controls (0.48 ± 0.08 vs. 69 ± 0.07 ng/ml, respectively; P = 0.001). The ASD children also had significantly higher levels of hs-CRP (0.79 ± 0.09 vs. 0.59 ± 0.09 ng/ml, respectively; P = 0.001) and 8-OH-dG (8.17 ± 1.04 vs. 4.13 ± 1.01 ng/ml, respectively; P = 0.001, compared to neurotypical age and gender-matched controls. The values for hs-CRP and 8-OH-dG did not correlate [P < 0.001] with autism severity. There was found a relationship between autism severity on the CARS scale and the levels of 25(OH)D 3 and CYP1B1. But this was not found for SRS. All four biomarkers seemed to have good sensitivity and

  14. EEG Analytics for Early Detection of Autism Spectrum Disorder: A data-driven approach.

    PubMed

    Bosl, William J; Tager-Flusberg, Helen; Nelson, Charles A

    2018-05-01

    Autism spectrum disorder (ASD) is a complex and heterogeneous disorder, diagnosed on the basis of behavioral symptoms during the second year of life or later. Finding scalable biomarkers for early detection is challenging because of the variability in presentation of the disorder and the need for simple measurements that could be implemented routinely during well-baby checkups. EEG is a relatively easy-to-use, low cost brain measurement tool that is being increasingly explored as a potential clinical tool for monitoring atypical brain development. EEG measurements were collected from 99 infants with an older sibling diagnosed with ASD, and 89 low risk controls, beginning at 3 months of age and continuing until 36 months of age. Nonlinear features were computed from EEG signals and used as input to statistical learning methods. Prediction of the clinical diagnostic outcome of ASD or not ASD was highly accurate when using EEG measurements from as early as 3 months of age. Specificity, sensitivity and PPV were high, exceeding 95% at some ages. Prediction of ADOS calibrated severity scores for all infants in the study using only EEG data taken as early as 3 months of age was strongly correlated with the actual measured scores. This suggests that useful digital biomarkers might be extracted from EEG measurements.

  15. Theory of mind predicts severity level in autism.

    PubMed

    Hoogenhout, Michelle; Malcolm-Smith, Susan

    2017-02-01

    We investigated whether theory of mind skills can indicate autism spectrum disorder severity. In all, 62 children with autism spectrum disorder completed a developmentally sensitive theory of mind battery. We used intelligence quotient, Diagnostic and Statistical Manual of Mental Disorders (4th ed.) diagnosis and level of support needed as indicators of severity level. Using hierarchical cluster analysis, we found three distinct clusters of theory of mind ability: early-developing theory of mind (Cluster 1), false-belief reasoning (Cluster 2) and sophisticated theory of mind understanding (Cluster 3). The clusters corresponded to severe, moderate and mild autism spectrum disorder. As an indicator of level of support needed, cluster grouping predicted the type of school children attended. All Cluster 1 children attended autism-specific schools; Cluster 2 was divided between autism-specific and special needs schools and nearly all Cluster 3 children attended general special needs and mainstream schools. Assessing theory of mind skills can reliably discriminate severity levels within autism spectrum disorder.

  16. Epilepsy and Autism: Is there a special relationship?

    PubMed Central

    Berg, Anne T.; Plioplys, Sigita

    2012-01-01

    Increasingly, there has been an interest in the association between epilepsy and autism. The high frequency of autism in some of the early-onset developmental encephalopathic epilepsies is frequently cited as evidence of the relationship between autism and epilepsy. While these specific forms of epilepsy carry a higher than expected risk of autism, most if not all of the association may be due to intellectual disability (ID). The high prevalence of interictal EEG discharges in children with autism is also cited as further evidence although errors in the diagnosis of epilepsy seem to account for at least part of those findings. The prevalence of ID is substantially elevated in children with either epilepsy or autism. In the absence of ID, there is little evidence of a substantial, if any, increased risk of autism in children with epilepsy. Further, although the reported prevalence of autism has increased over the last several years, much of this increase may be attributable to changes in diagnostic practices, conceptualization of autism in the presence of ID, and laws requiring provision of services for children with autism. In the context of these temporal trends, any further efforts to tease apart the relationships between epilepsy, ID, and autism will have to address head-on the accuracy of diagnosis of all three conditions before we can determine whether there is indeed a special relationship between autism and epilepsy. PMID:22381386

  17. Automated diagnosis of autism: in search of a mathematical marker.

    PubMed

    Bhat, Shreya; Acharya, U Rajendra; Adeli, Hojjat; Bairy, G Muralidhar; Adeli, Amir

    2014-01-01

    Autism is a type of neurodevelopmental disorder affecting the memory, behavior, emotion, learning ability, and communication of an individual. An early detection of the abnormality, due to irregular processing in the brain, can be achieved using electroencephalograms (EEG). The variations in the EEG signals cannot be deciphered by mere visual inspection. Computer-aided diagnostic tools can be used to recognize the subtle and invisible information present in the irregular EEG pattern and diagnose autism. This paper presents a state-of-the-art review of automated EEG-based diagnosis of autism. Various time domain, frequency domain, time-frequency domain, and nonlinear dynamics for the analysis of autistic EEG signals are described briefly. A focus of the review is the use of nonlinear dynamics and chaos theory to discover the mathematical biomarkers for the diagnosis of the autism analogous to biological markers. A combination of the time-frequency and nonlinear dynamic analysis is the most effective approach to characterize the nonstationary and chaotic physiological signals for the automated EEG-based diagnosis of autism spectrum disorder (ASD). The features extracted using these nonlinear methods can be used as mathematical markers to detect the early stage of autism and aid the clinicians in their diagnosis. This will expedite the administration of appropriate therapies to treat the disorder.

  18. Abnormal regional cerebral blood flow in childhood autism.

    PubMed

    Ohnishi, T; Matsuda, H; Hashimoto, T; Kunihiro, T; Nishikawa, M; Uema, T; Sasaki, M

    2000-09-01

    Neuroimaging studies of autism have shown abnormalities in the limbic system and cerebellar circuits and additional sites. These findings are not, however, specific or consistent enough to build up a coherent theory of the origin and nature of the brain abnormality in autistic patients. Twenty-three children with infantile autism and 26 non-autistic controls matched for IQ and age were examined using brain-perfusion single photon emission computed tomography with technetium-99m ethyl cysteinate dimer. In autistic subjects, we assessed the relationship between regional cerebral blood flow (rCBF) and symptom profiles. Images were anatomically normalized, and voxel-by-voxel analyses were performed. Decreases in rCBF in autistic patients compared with the control group were identified in the bilateral insula, superior temporal gyri and left prefrontal cortices. Analysis of the correlations between syndrome scores and rCBF revealed that each syndrome was associated with a specific pattern of perfusion in the limbic system and the medial prefrontal cortex. The results confirmed the associations of (i) impairments in communication and social interaction that are thought to be related to deficits in the theory of mind (ToM) with altered perfusion in the medial prefrontal cortex and anterior cingulate gyrus, and (ii) the obsessive desire for sameness with altered perfusion in the right medial temporal lobe. The perfusion abnormalities seem to be related to the cognitive dysfunction observed in autism, such as deficits in ToM, abnormal responses to sensory stimuli, and the obsessive desire for sameness. The perfusion patterns suggest possible locations of abnormalities of brain function underlying abnormal behaviour patterns in autistic individuals.

  19. Infant and dyadic assessment in early community-based screening for autism spectrum disorder with the PREAUT grid.

    PubMed

    Olliac, Bertrand; Crespin, Graciela; Laznik, Marie-Christine; Cherif Idrissi El Ganouni, Oussama; Sarradet, Jean-Louis; Bauby, Colette; Dandres, Anne-Marie; Ruiz, Emeline; Bursztejn, Claude; Xavier, Jean; Falissard, Bruno; Bodeau, Nicolas; Cohen, David; Saint-Georges, Catherine

    2017-01-01

    The need for early treatment of autism spectrum disorders (ASD) necessitates early screening. Very few tools have been prospectively tested with infants of less than 12 months of age. The PREAUT grid is based on dyadic assessment through interaction and shared emotion and showed good metrics for predicting ASD in very-high-risk infants with West syndrome. We assessed the ability of the PREAUT grid to predict ASD in low-risk individuals by prospectively following and screening 12,179 infants with the PREAUT grid at four (PREAUT-4) and nine (PREAUT-9) months of age. A sample of 4,835 toddlers completed the Checklist for Autism in Toddlers (CHAT) at 24 months (CHAT-24) of age. Children who were positive at one screening (N = 100) were proposed a clinical assessment (including the Children Autism Rating Scale, a Developmental Quotient, and an ICD-10-based clinical diagnosis if appropriate) in the third year of life. A randomly selected sample of 1,100 individuals who were negative at all screenings was followed by the PMI team from three to five years of age to identify prospective false negative cases. The clinical outcome was available for 45% (N = 45) of positive children and 52.6% (N = 579) of negative children. Of the 100 children who screened positive, 45 received a diagnosis at follow-up. Among those receiving a diagnosis, 22 were healthy, 10 were diagnosed with ASD, seven with intellectual disability (ID), and six had another developmental disorder. Thus, 50% of infants positive at one screening subsequently received a neurodevelopmental diagnosis. The PREAUT grid scores were significantly associated with medium and high ASD risk status on the CHAT at 24 months (odds ratio of 12.1 (95%CI: 3.0-36.8), p < 0.001, at four months and 38.1 (95%CI: 3.65-220.3), p < 0.001, at nine months). Sensitivity (Se), specificity, negative predictive values, and positive predictive values (PPVs) for PREAUT at four or nine months, and CHAT at 24 months, were similar [PREAUT-4: Se

  20. The Broader Autism Phenotype in Mothers is Associated with Increased Discordance between Maternal-Reported and Clinician-Observed Instruments That Measure Child Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Rubenstein, Eric; Edmondson Pretzel, Rebecca; Windham, Gayle C.; Schieve, Laura A.; Wiggins, Lisa D.; DiGuiseppi, Carolyn; Olshan, Andrew F.; Howard, Annie G.; Pence, Brian W.; Young, Lisa; Daniels, Julie

    2017-01-01

    Autism spectrum disorder (ASD) diagnosis relies on parent-reported and clinician-observed instruments. Sometimes, results between these instruments disagree. The broader autism phenotype (BAP) in parent-reporters may be associated with discordance. Study to Explore Early Development data (N = 712) were used to address whether mothers with BAP and…

  1. Wisconsin Twin Research: early development, childhood psychopathology, autism, and sensory over-responsivity.

    PubMed

    Schmidt, Nicole L; Van Hulle, Carol A; Brooker, Rebecca J; Meyer, Lauren R; Lemery-Chalfant, Kathryn; Goldsmith, H Hill

    2013-02-01

    The Wisconsin Twin Research Program comprises multiple longitudinal studies that utilize a panel recruited from statewide birth records for the years 1989 through 2004. Our research foci are the etiology and developmental course of early emotions, temperament, childhood anxiety and impulsivity, autism, sensory over-responsivity, and related topics. A signature feature of this research program is the breadth and depth of assessment during key periods of development. The assessments include extensive home- and laboratory-based behavioral batteries, recorded sibling and caregiver interactions, structured psychiatric interviews with caregivers and adolescents, observer ratings of child behavior, child self-report, cognitive testing, neuroendocrine measures, medical records, dermatoglyphics, genotyping, and neuroimaging. Across the various studies, testing occasions occurred between 3 months and 18 years of age. Data collection for some aspects of the research program has concluded and, for other aspects, longitudinal follow-ups are in progress.

  2. Naturalistic Developmental Behavioral Interventions: Empirically Validated Treatments for Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Schreibman, Laura; Dawson, Geraldine; Stahmer, Aubyn C.; Landa, Rebecca; Rogers, Sally J.; McGee, Gail G.; Kasari, Connie; Ingersoll, Brooke; Kaiser, Ann P.; Bruinsma, Yvonne; McNerney, Erin; Wetherby, Amy; Halladay, Alycia

    2015-01-01

    Earlier autism diagnosis, the importance of early intervention, and development of specific interventions for young children have contributed to the emergence of similar, empirically supported, autism interventions that represent the merging of applied behavioral and developmental sciences. "Naturalistic Developmental Behavioral Interventions…

  3. [Course and treatment of infantile asthma in our milieu].

    PubMed

    Scrigni, A; Grenoville, M; de Sarasqueta, P; Verna, R; Breiter, P; Jimenez, C

    1993-01-01

    We studied the clinical evolution and therapeutic approach of 50 children who were treated at the Emergency Room for an asthmatic crisis. We observed a high frequency of early onset of asthma before one year of age (n:16), constant symptoms between the crisis (n:34) and previous admissions before the present crisis (n:34) and previous admissions before the present crisis (n:16). Most cases did not have a family doctor. In 16 cases, the present crisis had four or more days of duration. We observed a frequent administration of suboptimal doses of bronchodilator and antiinflammatory drugs. These results show a non satisfactory treatment of infantile asthma.

  4. The Autism Parent Screen for Infants: Predicting risk of autism spectrum disorder based on parent-reported behavior observed at 6-24 months of age.

    PubMed

    Sacrey, Lori-Ann R; Bryson, Susan; Zwaigenbaum, Lonnie; Brian, Jessica; Smith, Isabel M; Roberts, Wendy; Szatmari, Peter; Vaillancourt, Tracy; Roncadin, Caroline; Garon, Nancy

    2018-04-01

    This study examined whether a novel parent-report questionnaire, the Autism Parent Screen for Infants, could differentiate infants subsequently diagnosed with autism spectrum disorder from a high-risk cohort (siblings of children diagnosed with autism spectrum disorder (n = 66)) from high-risk and low-risk comparison infants (no family history of autism spectrum disorder) who did not develop autism spectrum disorder (n = 138 and 79, respectively). Participants were assessed prospectively at 6, 9, 12, 15, 18, and 24 months of age. At 36 months, a blind independent diagnostic assessment for autism spectrum disorder was completed. Parent report on the Autism Parent Screen for Infants was examined in relation to diagnostic outcome and risk status (i.e. high-risk sibling with autism spectrum disorder, high-risk sibling without autism spectrum disorder, and low-risk control). The results indicated that from 6 months of age, total score on the Autism Parent Screen for Infants differentiated between the siblings with autism spectrum disorder and the other two groups. The sensitivity, specificity, and positive and negative predictive validity of the Autism Parent Screen for Infants highlight its potential for the early screening of autism spectrum disorder in high-risk cohorts.

  5. It's about Time for Autism Reform Legislation in Utah

    ERIC Educational Resources Information Center

    Shiozawa, Brian J.

    2015-01-01

    On 3 April 2014, Governor Gary Herbert signed into law a health insurance reform bill that requires private insurers to cover autism therapy. Specifically, SB57 requires state-regulated health plans to cover applied behavior analysis (ABA) therapy. While early diagnosis and intervention can reduce the long-term cost of autism, families are finding…

  6. [Autism spectrum disorder. Contemporary experimental researches review].

    PubMed

    Luschekina, E A; Strelets, V B

    2014-01-01

    Autism, like schizophrenia, are heterogeneous diseases, which are directed by both genetic factors and external influences in the early stages of development. Knowledge about the similarities and differences of these disorders can help early diagnosis and treatment. Patients with autism have specific cognitive difficulties in social relations. They are characterized by impairment of social interaction, communication and behavioral flexibility. The severity of the delay the development of autistic children, clinical and psychological indicators is correlated with an increase in the high frequency of spontaneous EEG activity. Cognitive task in autistic children, unlike normal persons, does not lead to a significant restructuring of high-frequency EEG activity, which may be a violation of the reaction mechanism to external stimuli and behavioral disorders. Abnormality in high-frequency components of EEG reactivity on cognitive task, the perception of human faces and visual illusions as well as the inadequate system of mirror neurons, can be considered common mechanisms underlying disorders of autism and schizophrenia. These general mechanisms may be considered as related to violation of the inhibition-exitation balance, controlled via GABA-transmission and NMDA-receptors. A multidimensional study of patterns of disontogenesis in autism, in addition to detailing the clinical picture of disease and rehabilitation activities, allows us to clear the fundamental understanding of the brain.

  7. The Diagnosis of Autism in Community Pediatric Settings: Does Advanced Training Facilitate Practice Change?

    ERIC Educational Resources Information Center

    Swanson, Amy R.; Warren, Zachary E.; Stone, Wendy L.; Vehorn, Alison C.; Dohrmann, Elizabeth; Humberd, Quentin

    2014-01-01

    The increased prevalence of autism spectrum disorder and documented benefits of early intensive intervention have created a need for flexible systems for determining eligibility for autism-specific services. This study evaluated the effectiveness of a training program designed to enhance autism spectrum disorder identification and assessment…

  8. A Randomised Controlled Trial of Two Early Intervention Programs for Young Children with Autism: Centre-Based with Parent Program and Home-Based

    ERIC Educational Resources Information Center

    Roberts, Jacqueline; Williams, Katrina; Carter, Mark; Evans, David; Parmenter, Trevor; Silove, Natalie; Clark, Trevor; Warren, Anthony

    2011-01-01

    This study compares outcomes of early intervention programs for young children with autism; an individualised home-based program (HB), a small group centre-based program for children combined with a parent training and support group (CB) and a non-treatment comparison group (WL). Outcome measures of interest include social and communication skill…

  9. Characterization of the Pathological and Biochemical Markers that Correlate to the Clinical Features of Autism

    DTIC Science & Technology

    2011-10-01

    to oxidative stress and abnormal brain energy metabolism in autism . Autism spectrum disorders (ASDs) are complex neurodevelopmental disorders. The...heterogeneous disorder, belonging to a group of neurodevelopmental disorders, known as the autism spec- trum disorders (ASDs) that include Asperger...Postmortem assessments of the brains of individuals with autism have unveiled early neurodevelop - mental alterations, including reduced programed cell

  10. Tuberous sclerosis complex: correlation of magnetic resonance imaging (MRI) findings with comorbidities.

    PubMed

    Wong, Virginia; Khong, Pek-Lan

    2006-02-01

    We studied the magnetic resonance imaging (MRI) findings in a cohort of Chinese children with tuberous sclerosis complex to determine the relationship between age, sex, mental retardation, autism, epilepsy, infantile spasm, and early age at onset of seizures and the numbers and locations of tubers detected. We searched our tuberous sclerosis registry, established in 1985 (N = 44), and performed an analysis of children who had MRIs of the brain performed (n = 22). A neuroradiologist blinded to the clinical findings scored the MRIs according to the total number and site of the tubers. The following factors were analyzed: age, sex, presence of autism (n = 7), presence (n = 19) and severity of mental retardation (mild [n = 12], moderate to severe [n = 7]), presence of epilepsy (n = 21) or infantile spasm (n = 8), and age at onset of seizures less than 1 year (n = 10). There was no significant relationship between the number and site of tubers and the following factors: sex, autism, mental retardation, degree of mental retardation, epilepsy, history of infantile spasm, or age at onset of seizures less than 1 year. Only the presence of cortical tubers in the parietal regions had a significant relationship with the history of infantile spasm (P = .012). Using multiple regression analysis of all of the risk factors, only age is related to the number of tubers in the MRI (P = .047), and a history of infantile spasm is related to the presence of tubers in the parietal (P = .009) and occipital (P = .031) lobes. The associated comorbidities in tuberous sclerosis complex might be explained by more complex underlying genetic or pathologic issues rather than purely by the site of the cortical tubers. We suggest that a developmental approach, by analyzing the age at the appearance of tubers in both symptomatic and asymptomatic cases with the development of other neuropsychiatric comorbidities, should be undertaken to assess the causal relationship.

  11. Toddler Autism Screening Questionnaire: Development and Potential Clinical Validity

    ERIC Educational Resources Information Center

    Tsai, Wen-Che; Soong, Wei-Tsuen; Shyu, Yea-Ing Lotus

    2012-01-01

    No feasible screening instrument is available for early detection of children with autism in Taiwan. The existing instruments may not be appropriate for use in Taiwan due to different health care systems and child-rearing cultures. The purpose of this study was to develop and test a screening questionnaire for generic autism. The initial 18-item…

  12. Hand activities in infantile masturbation: a video analysis of 13 cases.

    PubMed

    Hansen, Jonas Kjeldbjerg; Balslev, Thomas

    2009-11-01

    Infantile masturbation is considered a variant of normal behaviour. The abrupt and spontaneous onset, altered sensorium and autonomic phenomena during episodes may suggest an epileptic fit. Therefore, children with infantile masturbation are often admitted to hospital and undergo unnecessary tests. The purpose of the present study was to provide a detailed description of hand activities in infantile masturbation. The authors reviewed video recordings of 2 boys and 11 girls with infantile masturbation. Position, movements and activities of hands and fingers during episodes were registered. Five patterns of hand activities were registered: Fisting (four infants), grasping of toys, furniture or clothing (ten infants), chorea-like "piano playing" hand movements (two infants), pressure over the diaper/genital region (one infant) and bimanual manipulation of items (four infants). Fisting was primarily observed in the younger infants, and bimanual manipulation was primarily seen in the older infants. Recognizing one or more of the five distinct patterns of hand activities in infantile masturbation may help establishing the diagnosis.

  13. A retrospective journal-based case study of an infant with autism and his twin.

    PubMed

    Rutherford, M D

    2005-04-01

    This report describes the development of an infant who was later diagnosed with autism, and a direct comparison of his development to that of his twin, from a prenatal period through the age of 4 years, through the examination of personal journals and medical records kept by the mother of the twins. Examination of these journals revealed several differences in development between the twins, some as early as 6 months of age. In the first year of life, the infants already differed in language development, social development, sleep patterns, and sensitivity to pain. This rare opportunity to view early autistic development gives direction to developmental theories of autism and clinically useful cues to early signs of autism.

  14. Autism by Another Name? Semantic and Pragmatic Impairments in Children.

    ERIC Educational Resources Information Center

    Brook, Sarah Lister; Bowler, Dermot M.

    1992-01-01

    A review of the literature on children with language disorders characterized by semantic and pragmatic impairments suggests that some of these conditions may stem from the same fundamental cognitive and interpersonal difficulties found in early childhood autism. A summary of recent research and theory in autism is also presented. (Author/DB)

  15. Preclinical Screening for Treatments for Infantile Spasms in the Multiple Hit Rat Model of Infantile Spasms: An Update.

    PubMed

    Galanopoulou, Aristea S; Mowrey, Wenzhu B; Liu, Wei; Li, Qianyun; Shandra, Oleksii; Moshé, Solomon L

    2017-07-01

    Infantile spasms are the typical seizures of West syndrome, an infantile epileptic encephalopathy with poor outcomes. There is an increasing need to identify more effective and better tolerated treatments for infantile spasms. We have optimized the rat model of infantile spasms due to structural etiology, the multiple-hit rat model, for therapy discovery. Here, we test three compounds administered after spasms induction in the multiple hit model for efficacy and tolerability. Specifically, postnatal day 3 (PN3) male Sprague-Dawley rats were induced by right intracerebral injections of doxorubicin and lipopolysaccharide. On PN5 p-chlorophenylalanine was given intraperitoneally (i.p.). Daily monitoring of weights and developmental milestones was done and rats were intermittently video monitored. A blinded, randomized, vehicle-controlled study design was followed. The caspase 1 inhibitor VX-765 (50-200 mg/kg i.p.) and the GABA B receptor inhibitor CGP35348 (12.5-100 mg/kg i.p.) each was administered in different cohorts as single intraperitoneal injections on PN4, using a dose- and time-response design with intermittent monitoring till PN5. 17β-estradiol (40 ng/g/day subcutaneously) was given daily between PN3-10 and intermittent monitoring was done till PN12. None of the treatments demonstrated acute or delayed effects on spasms, yet all were well tolerated. We discuss the implications for therapy discovery and challenges of replication trials.

  16. Defining Characteristics for Young Children Meeting Cutoff on the Modified Checklist for Autism in Toddlers

    ERIC Educational Resources Information Center

    Kozlowski, Alison M.; Matson, Johnny L.; Worley, Julie A.; Sipes, Megan; Horovitz, Max

    2012-01-01

    Early diagnosis of Autism Spectrum Disorders (ASDs) is crucial so that early intervention services, which have been found to best alleviate symptoms of ASD in children, can be implemented. Currently, the "Modified Checklist for Autism in Toddlers" ("M-CHAT") and the "Baby and Infant Screen for Children with aUtIsm…

  17. Visual impairment and traits of autism in children.

    PubMed

    Wrzesińska, Magdalena; Kapias, Joanna; Nowakowska-Domagała, Katarzyna; Kocur, Józef

    2017-04-30

    Visual impairment present from birth or from an early childhood may lead to psychosocial and emotional disorders. 11-40% of children in the group with visual impairment show traits of autism. The aim of this paper was to present the selected examples of how visual impairment in children is related to the occurrence of autism and to describe the available tools for diagnosing autism in children with visual impairment. So far the relation between visual impairment in children and autism has not been sufficiently confirmed. Psychiatric and psychological diagnosis of children with visual impairment has some difficulties in differentiating between "blindism" and traits typical for autism resulting from a lack of standardized diagnostic tools used to diagnosing children with visual impairment. Another difficulty in diagnosing autism in children with visual impairment is the coexistence of other disabilities in case of most children with vision impairment. Additionally, apart from difficulties in diagnosing autistic disorders in children with eye dysfunctions there is also a question of what tools should be used in therapy and rehabilitation of patients.

  18. Wisconsin Twin Research: Early Development, Childhood Psychopathology, Autism, and Sensory Over-responsivity

    PubMed Central

    Schmidt, Nicole L.; Van Hulle, Carol; Brooker, Rebecca J.; Meyer, Lauren R.; Lemery-Chalfant, Kathryn; Goldsmith, H. H.

    2012-01-01

    The Wisconsin Twin Research Program comprises multiple longitudinal studies that utilize a panel recruited from statewide birth records for the years 1989 through 2004. Our research foci are the etiology and developmental course of early emotions, temperament, childhood anxiety and impulsivity, autism, sensory over-responsivity, and related topics. A signature feature of this research program is the breadth and depth of assessment during key periods of development. The assessments include extensive home and laboratory-based behavioral batteries, recorded sibling and caregiver interactions, structured psychiatric interviews with caregivers and adolescents, observer ratings of child behavior, child self-report, cognitive testing, neuroendocrine measures, medical records, dermatoglyphics, genotyping, and neuroimaging. Across the various studies, testing occasions occurred between 3 months and 18 years of age. Data collection for some aspects of the research program has concluded and, for other aspects, longitudinal follow-ups are in progress. PMID:23200241

  19. Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion.

    PubMed

    Wang, Xianshu; Zhang, Xiaoru; Cao, Hongbin; Jing, Shiyuan; Yang, Zhiguo; Cheng, Zhenghai; Liu, Ye; Li, Xin; Gao, Feifei; Ji, Yuanqi

    2015-10-20

    Infantile purulent meningitis (PM) is a commonly severe intracranial infectious disease in infants under age 1 year. In recent years, several diagnostic and treatment methods were reported, but in these cases the neurological complications and sequel were often observed, among which subdural effusion (SE) is the most common complication in PM. Timely diagnosis and early intervention are vital for better outcomes. In this study, the surgical treatments for infantile PM complicated by SE were investigated. Patients who had PM complicated by SE in the Children's Hospital of Hebei Province from June 2000 to June 2012 were retrospectively analyzed and 170 patients were enrolled in the study. Surgical treatment for each patient was adopted according to producing effusion time, leucocyte count, protein content, intracranial pressure, and bacteria culture, coupled with cranial ultrasound examination, CT, and MRI scans. Nearly, 15 patients were cured using serial taps, with a 50% cure rate. Seventeen out of 30 (56.6%) patients receiving subcutaneous reservoir drainage had better outcome. Nearly 80% of patients (55/69) who underwent minimally invasive trepanation and drainage were positive. Surgical procedure of minimally invasive trepanation and drainage combined with drug douche was effective in 63% of patients (19/30). In addition, 6 patients were cured with subdural-peritoneal shunt. Only 1 patient died, after the recurrence of meningitis, and the remaining 4 patients were cured by craniotomy. For infantile PM complicated with SE, treatment needs be chosen according to the specific situation. Surgical procedure of minimally invasive trepanation and drainage is a very effective treatment in curing PM complicated by SE. The treatment was highly effective with the use of drug douche. Subdural-peritoneal shunt and craniotomy were as effective as in refractory cases.

  20. Surgical Treatments for Infantile Purulent Meningitis Complicated by Subdural Effusion

    PubMed Central

    Wang, Xianshu; Zhang, Xiaoru; Cao, Hongbin; Jing, Shiyuan; Yang, Zhiguo; Cheng, Zhenghai; Liu, Ye; Li, Xin; Gao, Feifei; Ji, Yuanqi

    2015-01-01

    Background Infantile purulent meningitis (PM) is a commonly severe intracranial infectious disease in infants under age 1 year. In recent years, several diagnostic and treatment methods were reported, but in these cases the neurological complications and sequel were often observed, among which subdural effusion (SE) is the most common complication in PM. Timely diagnosis and early intervention are vital for better outcomes. In this study, the surgical treatments for infantile PM complicated by SE were investigated. Material/Methods Patients who had PM complicated by SE in the Children’s Hospital of Hebei Province from June 2000 to June 2012 were retrospectively analyzed and 170 patients were enrolled in the study. Surgical treatment for each patient was adopted according to producing effusion time, leucocyte count, protein content, intracranial pressure, and bacteria culture, coupled with cranial ultrasound examination, CT, and MRI scans. Results Nearly, 15 patients were cured using serial taps, with a 50% cure rate. Seventeen out of 30 (56.6%) patients receiving subcutaneous reservoir drainage had better outcome. Nearly 80% of patients (55/69) who underwent minimally invasive trepanation and drainage were positive. Surgical procedure of minimally invasive trepanation and drainage combined with drug douche was effective in 63% of patients (19/30). In addition, 6 patients were cured with subdural-peritoneal shunt. Only 1 patient died, after the recurrence of meningitis, and the remaining 4 patients were cured by craniotomy. Conclusions For infantile PM complicated with SE, treatment needs be chosen according to the specific situation. Surgical procedure of minimally invasive trepanation and drainage is a very effective treatment in curing PM complicated by SE. The treatment was highly effective with the use of drug douche. Subdural-peritoneal shunt and craniotomy were as effective as in refractory cases. PMID:26482715

  1. Executive function predicts the development of play skills for verbal preschoolers with autism spectrum disorders.

    PubMed

    Faja, Susan; Dawson, Geraldine; Sullivan, Katherine; Meltzoff, Andrew N; Estes, Annette; Bernier, Raphael

    2016-12-01

    Executive function and play skills develop in early childhood and are linked to cognitive and language ability. The present study examined these abilities longitudinally in two groups with autism spectrum disorder-a group with higher initial language (n = 30) and a group with lower initial language ability (n = 36). Among the lower language group, concurrent nonverbal cognitive ability contributed most to individual differences in executive function and play skills. For the higher language group, executive function during preschool significantly predicted play ability at age 6 over and above intelligence, but early play did not predict later executive function. These results suggested that factors related to the development of play and executive function differ for subgroups of children with different language abilities and that early executive function skills may be critical in order for verbal children with autism to develop play. Autism Res 2016, 9: 1274-1284. © 2016 International Society for Autism Research, Wiley Periodicals, Inc. © 2016 International Society for Autism Research, Wiley Periodicals, Inc.

  2. Parenting, Autism Spectrum Disorders and Inner Journeys

    ERIC Educational Resources Information Center

    Twomey, Miriam; Shevlin, Michael

    2017-01-01

    The importance of Early Intervention for children with Autism has been established however little attention has been given to the role of the parent and their perspective (Griffin & Shevlin, 2011). Research on Early Intervention has proliferated and innovative research on involving parents as partners has emerged (Carpenter, 2007; Hornby,…

  3. The Social Communication Assessment for Toddlers with Autism (SCATA): An Instrument to Measure the Frequency, Form and Function of Communication in Toddlers with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Drew, Auriol; Baird, Gillian; Taylor, Emma; Milne, Elizabeth; Charman, Tony

    2007-01-01

    The Social Communication Assessment for Toddlers with Autism (SCATA) was designed to measure non-verbal communication, including early and atypical communication, in young children with autism spectrum disorder. Each communicative act is scored according to its form, function, role and complexity. The SCATA was used to measure communicative…

  4. [Which treatments for infantile colics?].

    PubMed

    Bruyas-Bertholon, Virginie; Lachaux, Alain; Dubois, Jean-Pierre; Fourneret, Pierre; Letrilliart, Laurent

    2012-07-01

    Infantile colics or excessive crying represent a source of stress for parents and a frequent reason for encounter in primary care. To assess the effectiveness of treatments of this syndrome from a systematic review. Medline, Cochrane and Embase databases. We used the following inclusion criteria: therapeutic assessment of infant colics or excessive crying, randomized controlled trials or meta-analyses, published in English or French language. Thirty-one randomized controlled trials and one meta-analysis have been included. Allopathic drugs have not proved effectiveness (simethicone, lactase) and some of them can cause potentially serious adverse reactions (dicyclomine). Protein hydrolysate or soy formulas seem to be effective, but soy milk can induce allergies. Sucrose solutions provide some benefit in studies with low level of evidence. Effectiveness is likely for a probiotics (Lactobacillus reuteri) and for herbal mixtures containing fennel extracts. Evidence is lacking for manual (osteopathy, acupuncture) and behavioural therapies (decreased stimulations, reassurance of parents). The definition of infantile colics and the methods used for crying measurement changed across trials. The included trials were of variable quality, especially with no double-blind procedure in 17 trials. The most validated treatments for infantile colics are the substitution of cows' milk by a hydrolysed formula, the use of L. reuteri and of fennel extracts. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  5. Early Negative Affect Predicts Anxiety, not Autism, in Preschool Boys with Fragile X Syndrome

    PubMed Central

    Tonnsen, Bridgette L.; Malone, Patrick S.; Hatton, Deborah D.

    2012-01-01

    Children with fragile X syndrome (FXS) face high risk for anxiety disorders, yet no studies have explored FXS as a high-risk sample for investigating early manifestations of anxiety outcomes. Negative affect is one of the most salient predictors of problem behaviors and has been associated with both anxiety and autistic outcomes in clinical and non-clinical pediatric samples. In light of the high comorbidity between autism and anxiety within FXS, the present study investigates the relationship between longitudinal trajectories of negative affect (between 8 and 71 months) and severity of anxiety and autistic outcomes in young males with FXS (n= 25). Multilevel models indicated associations between elevated anxiety and higher fear and sadness, lower soothability, and steeper longitudinal increases in approach. Autistic outcomes were unrelated to negative affect. These findings suggest early negative affect differentially predicts anxiety, not autistic symptoms, within FXS. Future research is warranted to determine the specificity of the relationship between negative affect and anxiety, as well as to explore potential moderators. Characterizing the relationship between early negative affect and anxiety within FXS may inform etiology and treatment considerations specific to children with FXS, as well as lend insight into precursors of anxiety disorders in other clinical groups and community samples. PMID:23011214

  6. The Basic Structure of Community Early Intervention Programs for Children with Autism: Provider Descriptions

    PubMed Central

    Stahmer, Aubyn C.

    2007-01-01

    Autism researchers have identified a set of common effective practice elements for early intervention (EI) (e.g., intensive programming). The current study examined the reported about use of common elements of effective interventions in community EI settings. Eighty EI providers reported about their programs. The majority of participants reported using common effective elements, however, the depth and quality of the use of these elements was highly variable. Taking community program structure into account in future research will facilitate the development of methodologies, which immediately fit into the context of community programming rather than requiring program adaptation for use in the real world. Recommendations for using current community program structure to improve use of evidence-based practices are discussed. PMID:17086438

  7. Time-Lag between Diagnosis of Autism Spectrum Disorder and Onset of Publicly-Funded Early Intensive Behavioral Intervention: Do Race-Ethnicity and Neighborhood Matter?

    ERIC Educational Resources Information Center

    Yingling, Marissa E.; Hock, Robert M.; Bell, Bethany A.

    2018-01-01

    Health coverage of early intensive behavioral intervention (EIBI) for children with autism spectrum disorder (ASD) is rapidly expanding across the United States. Yet we know little about the time-lag between diagnosis and treatment onset. We integrated administrative, Medicaid claims, and Census data for children in an EIBI Medicaid waiver (n =…

  8. Unilateral Recession-Resection Surgery for Infantile Esotropia: Survival of Motor Outcomes and Postoperative Drifts.

    PubMed

    Chatzistefanou, Klio I; Brouzas, Dimitrios; Droutsas, Konstantinos D; Koutsandrea, Chryssanthi; Chimonidou, Eleutheria

    2017-05-10

    To outline the short- and long-term motor outcomes of unilateral medial rectus muscle recession and lateral rectus muscle resection for the correction of moderate angle infantile esotropia. A retrospective study of 109 consecutive patients with moderate angle infantile esotropia treated with graded unilateral recession-resection surgery. Criteria for successful motor outcome included alignment ±10Δ from orthophoria. Outcome evaluation was a comparison of successful alignment versus an overcorrection or undercorrection at eight weeks postoperatively as well as on the final follow-up examination. The mean preoperative deviation was 35.5 prism diopters (Δ) and mean follow-up time was 4.9 years. At the eight-week postoperative examination, 99 patients (89.9%) were successfully aligned, as opposed to 75 of 95 patients (78.9%) at the final postoperative visit (P=0.041). There was no statistically significant difference between the rate of early versus late undercorrections (7.3% versus 12.5%, P=0.267) or overcorrections (2.7% versus 8.3%, P=0.125). Ten patients had an esotropic drift over time and 10 patients had an exotropic drift. Recurrent esotropia was associated with high hyperopia and presumed infantile esotropia diagnostic entity. The Kaplan-Meier estimate of survivorship of a successful motor outcome was 75.5% at five years and 71% at 15 years postoperatively. The mean response to surgery was 2.9Δ per mm of muscle recessed and resected and was positively related to the preoperative angle of deviation (R=0.615). The unilateral recession-resection procedure for the correction of infantile esotropia is shown to be associated with a favorable survival of motor outcomes and a relatively balanced rate of undercorrections versus overcorrections tending to be maintained through the follow-up period.

  9. Exploring Hypotheses and Rationale for Causes of Infantile Colic

    PubMed Central

    Camilleri, Michael; Park, Seon-Young; Scarpato, Elena; Staiano, Annamaria

    2016-01-01

    Background Infantile colic is a frequent problem in neonates and infants. This review addresses current management including the results for nutrient modifications, soy-based formulas, and prebiotics, probiotics and synbiotics. Purpose Given the evidence that there is still an unmet clinical need, as current treatments are incompletely efficacious, we have examined the evidence around three hypothetical mechanisms that could potentially be involved in etiopathogenesis of infantile colic: immaturity of bile acid mechanisms that alter intraluminal and absorptive mechanisms, immaturity in motility and alterations in the microbiome. Understanding these potential mechanisms may lead to the introduction of diagnostic procedures that should enhance the selection or individualization of therapy for infantile colic. PMID:27647578

  10. Infant and dyadic assessment in early community-based screening for autism spectrum disorder with the PREAUT grid

    PubMed Central

    Crespin, Graciela; Laznik, Marie-Christine; Cherif Idrissi El Ganouni, Oussama; Sarradet, Jean-Louis; Bauby, Colette; Dandres, Anne-Marie; Ruiz, Emeline; Bursztejn, Claude; Xavier, Jean; Falissard, Bruno; Bodeau, Nicolas; Cohen, David; Saint-Georges, Catherine

    2017-01-01

    Background The need for early treatment of autism spectrum disorders (ASD) necessitates early screening. Very few tools have been prospectively tested with infants of less than 12 months of age. The PREAUT grid is based on dyadic assessment through interaction and shared emotion and showed good metrics for predicting ASD in very-high-risk infants with West syndrome. Methods We assessed the ability of the PREAUT grid to predict ASD in low-risk individuals by prospectively following and screening 12,179 infants with the PREAUT grid at four (PREAUT-4) and nine (PREAUT-9) months of age. A sample of 4,835 toddlers completed the Checklist for Autism in Toddlers (CHAT) at 24 months (CHAT-24) of age. Children who were positive at one screening (N = 100) were proposed a clinical assessment (including the Children Autism Rating Scale, a Developmental Quotient, and an ICD-10-based clinical diagnosis if appropriate) in the third year of life. A randomly selected sample of 1,100 individuals who were negative at all screenings was followed by the PMI team from three to five years of age to identify prospective false negative cases. The clinical outcome was available for 45% (N = 45) of positive children and 52.6% (N = 579) of negative children. Results Of the 100 children who screened positive, 45 received a diagnosis at follow-up. Among those receiving a diagnosis, 22 were healthy, 10 were diagnosed with ASD, seven with intellectual disability (ID), and six had another developmental disorder. Thus, 50% of infants positive at one screening subsequently received a neurodevelopmental diagnosis. The PREAUT grid scores were significantly associated with medium and high ASD risk status on the CHAT at 24 months (odds ratio of 12.1 (95%CI: 3.0–36.8), p < 0.001, at four months and 38.1 (95%CI: 3.65–220.3), p < 0.001, at nine months). Sensitivity (Se), specificity, negative predictive values, and positive predictive values (PPVs) for PREAUT at four or nine months, and CHAT at 24

  11. Brain enlargement is associated with regression in preschool-age boys with autism spectrum disorders

    PubMed Central

    Nordahl, Christine Wu; Lange, Nicholas; Li, Deana D.; Barnett, Lou Ann; Lee, Aaron; Buonocore, Michael H.; Simon, Tony J.; Rogers, Sally; Ozonoff, Sally; Amaral, David G.

    2011-01-01

    Autism is a heterogeneous disorder with multiple behavioral and biological phenotypes. Accelerated brain growth during early childhood is a well-established biological feature of autism. Onset pattern, i.e., early onset or regressive, is an intensely studied behavioral phenotype of autism. There is currently little known, however, about whether, or how, onset status maps onto the abnormal brain growth. We examined the relationship between total brain volume and onset status in a large sample of 2- to 4-y-old boys and girls with autism spectrum disorder (ASD) [n = 53, no regression (nREG); n = 61, regression (REG)] and a comparison group of age-matched typically developing controls (n = 66). We also examined retrospective head circumference measurements from birth through 18 mo of age. We found that abnormal brain enlargement was most commonly found in boys with regressive autism. Brain size in boys without regression did not differ from controls. Retrospective head circumference measurements indicate that head circumference in boys with regressive autism is normal at birth but diverges from the other groups around 4–6 mo of age. There were no differences in brain size in girls with autism (n = 22, ASD; n = 24, controls). These results suggest that there may be distinct neural phenotypes associated with different onsets of autism. For boys with regressive autism, divergence in brain size occurs well before loss of skills is commonly reported. Thus, rapid head growth may be a risk factor for regressive autism. PMID:22123952

  12. The UCLA Young Autism Project: A Reply to Gresham and Macmillan.

    ERIC Educational Resources Information Center

    Smith, Tristam; Lovass, O. Ivar

    1997-01-01

    Responds to "Autistic Recovery? An Analysis and Critique of the Empirical Evidence on the Early Intervention Project" (Gresham and MacMillan), which criticizes research showing the effectiveness of the UCLA Youth Autism Project program for children with autism. The article's misunderstandings are discussed and the program is explained. (CR)

  13. Characteristics of Children Who Lost the Diagnosis of Autism: A Sample from Istanbul, Turkey

    PubMed Central

    Mukaddes, Nahit Motavalli; Tutkunkardas, Mustafa Deniz; Sari, Oktay; Aydin, Aydan; Kozanoglu, Pınar

    2014-01-01

    Aim. The aim of this study was to describe a group of children who lost a diagnosis of autism following participation in early educational programs. Method. This is a descriptive study reporting the characteristics of children (n: 39) who lost their diagnosis of autism and explaining the educational programs that these children followed. The data were collected by reviewing the participants' files and through examinations. Results. All of the children were placed at regular psychiatric follow-ups. The mean age at referral was 2.39±0.75 years, whereas the mean age at the time of optimal outcome reported was 5.11 ± 1.95 years. Two of the children were in early intensive behavioral intervention (EIBI), and the rest were in a comprehensive naturalistic behavioral program. The childhood autism rating scale (CARS) total scores at baseline and final were 32.75 ± 3.15 and 18.01 ± 1.76, respectively. The mean IQ of the group at final examination was 116.70 ± 18.88. Conclusion. It could be concluded that a group of children with an autism diagnosis could lose the diagnosis of autism upon early intervention. High IQ and the development of communicative and language skills at an early age could be the most powerful factors contributing to an optimal outcome. PMID:24876961

  14. Convergent and divergent validity of the Mullen Scales of Early Learning in young children with and without autism spectrum disorder.

    PubMed

    Swineford, Lauren B; Guthrie, Whitney; Thurm, Audrey

    2015-12-01

    The purpose of this study was to report on the construct, convergent, and divergent validity of the Mullen Scales of Early Learning (MSEL), a widely used test of development for young children. The sample consisted of 399 children with a mean age of 3.38 years (SD = 1.14) divided into a group of children with autism spectrum disorder (ASD) and a group of children not on the autism spectrum, with and without developmental delays. The study used the MSEL and several other measures assessing constructs relevant to the age range--including developmental skills, autism symptoms, and psychopathology symptoms--across multiple methods of assessment. Multiple-group confirmatory factor analyses revealed good overall fit and equal form of the MSEL 1-factor model across the ASD and nonspectrum groups, supporting the construct validity of the MSEL. However, neither full nor partial invariance of factor loadings was established because of the lower loadings in the ASD group compared with the nonspectrum group. Exploratory structural equation modeling revealed that other measures of developmental skills loaded together with the MSEL domain scores on a Developmental Functioning factor, supporting convergent validity of the MSEL. Divergent validity was supported by the lack of loading of MSEL domain scores on Autism Symptoms or Emotion/Behavior Problems factors. Although factor structure and loadings varied across groups, convergent and divergent validity findings were similar in the ASD and nonspectrum samples. Together, these results demonstrate evidence for the construct, convergent, and divergent validity of the MSEL using powerful data-analytic techniques. (c) 2015 APA, all rights reserved).

  15. Computerized system for recognition of autism on the basis of gene expression microarray data.

    PubMed

    Latkowski, Tomasz; Osowski, Stanislaw

    2015-01-01

    The aim of this paper is to provide a means to recognize a case of autism using gene expression microarrays. The crucial task is to discover the most important genes which are strictly associated with autism. The paper presents an application of different methods of gene selection, to select the most representative input attributes for an ensemble of classifiers. The set of classifiers is responsible for distinguishing autism data from the reference class. Simultaneous application of a few gene selection methods enables analysis of the ill-conditioned gene expression matrix from different points of view. The results of selection combined with a genetic algorithm and SVM classifier have shown increased accuracy of autism recognition. Early recognition of autism is extremely important for treatment of children and increases the probability of their recovery and return to normal social communication. The results of this research can find practical application in early recognition of autism on the basis of gene expression microarray analysis. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Urinary Compounds in Autism

    ERIC Educational Resources Information Center

    Alcorn, A.; Berney, T.; Bretherton, K.; Mills, M.; Savery, D.; Shattock, P.

    2004-01-01

    Although earlier claims to identify specific compounds in the urine of people with autism had been discredited, it was subsequently suggested that there might be biochemical characteristics that were specific to early childhood, particularly in those who also did not have a severe degree of intellectual disability This study was to establish…

  17. Early Generalized Overgrowth in Autism Spectrum Disorder: Prevalence Rates, Gender Effects, and Clinical Outcomes

    PubMed Central

    Campbell, Daniel J.; Chang, Joseph; Chawarska, Katarzyna

    2014-01-01

    Objective Although early head and body overgrowth have been well-documented in autism spectrum disorder (ASD), their prevalence and significance remain unclear. It is also unclear whether overgrowth affects males and females differentially, and whether it is associated with clinical outcomes later in life. Method To evaluate prevalence of somatic overgrowth, gender effects, and associations with clinical outcomes, head circumference, height, and weight measurements were collected retrospectively between birth and 2 years of age in toddlers with ASD (n=200) and typically developing (TD; n=147) community controls. Symptom severity, verbal, and nonverbal functioning were assessed at 4 years. Results Abnormalities in somatic growth in infants with ASD were consistent with early generalized overgrowth (EGO). Boys but not girls with ASD were larger and exhibited an increased rate of extreme EGO compared to community controls (18.0% versus 3.4%). Presence of a larger body at birth and postnatal overgrowth were associated independently with poorer social, verbal, and nonverbal skills at 4 years. Conclusion Although early growth abnormalities in ASD are less common than previously thought, their presence is predictive of lower social, verbal, and nonverbal skills at 4 years, suggesting that they may constitute a biomarker for identifying toddlers with ASD at risk for less-optimal outcomes. The results highlight that the search for mechanisms underlying atypical brain development in ASD should consider factors responsible for both neural and non-neural tissue development during prenatal and early postnatal periods, and can be informed by the finding that early overgrowth may be more readily observed in males than females with ASD. PMID:25245350

  18. Teacher Support in the Implementation of Classroom Interventions for Middle School Children with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Pantoja, Danitza

    2014-01-01

    Autism spectrum disorder is generally regarded as complex, neurologically based, developmental disability that typically has its onset early in life (Myles & Simpson, 2001). Autism spectrum disorder is considered a universal disorder that affects children across all socioeconomic and educational levels (Wilkinson, 2010). Autism spectrum…

  19. The relationship of motor skills and adaptive behavior skills in young children with autism spectrum disorders.

    PubMed

    MacDonald, Megan; Lord, Catherine; Ulrich, Dale

    2013-11-01

    To determine the relationship of motor skills and the core behaviors of young children with autism, social affective skills and repetitive behaviors, as indicated through the calibrated autism severity scores. The univariate GLM tested the relationship of gross and fine motor skills measured by the gross motor scale and the fine motor scale of the MSEL with autism symptomology as measured by calibrated autism severity scores. Majority of the data collected took place in an autism clinic. A cohort of 159 young children with ASD (n=110), PDD-NOS (n=26) and non-ASD (developmental delay, n=23) between the ages of 12-33 months were recruited from early intervention studies and clinical referrals. Children with non-ASD (developmental delay) were included in this study to provide a range of scores indicted through calibrated autism severity. Not applicable. The primary outcome measures in this study were calibrated autism severity scores. Fine motor skills and gross motor skills significantly predicted calibrated autism severity (p < 0.01). Children with weaker motor skills displayed higher levels of calibrated autism severity. The fine and gross motor skills are significantly related to autism symptomology. There is more to focus on and new avenues to explore in the realm of discovering how to implement early intervention and rehabilitation for young children with autism and motor skills need to be a part of the discussion.

  20. [Nonprocess autism in children: comparative etiopathogenetic study].

    PubMed

    Kagan, V E

    1979-01-01

    Etiopathogenesis of the childhood autism syndrome of a non-process nature is discussed on the basis of a comparative study of 156 children aged from 3 to 16 years. In the etiological complex there is a prevalence of early exogenous-organic noxious factors, which is reflected in disturbances of mental divelopment, maturation of the system of hemispheric pair work. The data of follow-up studies and treatment confirm a conclusion about a residual-organic basis in the syndrome of childhood autism.

  1. Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity.

    PubMed

    Gipson, Tanjala T; Gerner, Gwendolyn; Srivastava, Siddharth; Poretti, Andrea; Vaurio, Rebecca; Hartman, Adam; Johnston, Michael V

    2014-09-01

    Infants born with tuberous sclerosis complex, a genetic condition resulting from a mutation in TSC1 or TSC2, are at increased risk for intellectual disability and/or autism. Features of epilepsy, neuropathology, genetics, as well as timing and type of mechanism-based medications have been proposed as risk factors. Neurodevelopmental outcomes have been reported among these studies; however, few include data about the individuals' early neurodevelopmental profile, a factor that may contribute significantly to these outcomes. Further, there is no clinical standard for the neurodevelopmental assessment of these infants. The paucity of data regarding the natural history of neurodevelopment in infants with tuberous sclerosis complex and the lack of a gold standard for neurodevelopmental evaluation present a significant challenge for clinicians and researchers. During the first year of life, we tracked the onset of infantile spasms, the type and timing of antiepileptic treatments, and the associated response of two age-matched infants with tuberous sclerosis complex. We also employed Capute Scales as a part of a structured neurodevelopmental evaluation to characterize and compare their neurodevelopmental profiles. Infant 1 developed infantile spasms with confirmed hypsarrhythmia at 4 months of age. Treatment with vigabatrin was initiated within 24 hours with near immediate cessation of seizures and no further seizures to date. Expressive language delay was detected at 12 months and treated with speech and/or language therapy. Infant 2 developed complex partial seizures at 1 month. Treatment included levetiracetam, oxcarbazepine, and the ketogenic diet. Vigabatrin was initiated on detection of hypsarrhythmia after 4 months. Intractable epilepsy persists to date. Global developmental delay was evident by 8 months and treated with physical, occupational, and speech and/or language therapy. Many risk factors have been associated with intellectual disability and/or autism in

  2. Autism and heritable bone fragility: A true association?

    PubMed

    Balasubramanian, Meena; Jones, Rebecca; Milne, Elizabeth; Marshall, Charlotte; Arundel, Paul; Smith, Kath; Bishop, Nicholas J

    2018-06-01

    looking after children with brittle bone disease, also referred to as Osteogenesis Imperfecta (OI) to be aware of early features of developmental delay/autistic traits especially with severe forms of OI as the emphasis is on their mobility and bone health. Ensuring appropriate assessment and access to services early-on will enable these patients to achieve their potential. Further investigations of genomics in bone fragility in relation to autism are required and dual diagnosis is essential for high quality clinical and educational provision.

  3. Deferred Imitation and Social Communication in Speaking and Nonspeaking Children with Autism

    ERIC Educational Resources Information Center

    Strid, Karin; Heimann, Mikael; Gillberg, Christopher; Smith, Lars; Tjus, Tomas

    2013-01-01

    Deferred imitation and early social communication skills were compared among speaking and nonspeaking children with autism and children developing typically. Overall, the children with autism showed a lower frequency on measures of deferred imitation and social communication compared with typically developing children. Deferred imitation was…

  4. Behavioral Development and Sociodemographics of Infants and Young Children at Higher and Lower Risk for Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Feldman, Maurice A.; Hendry, Amanda M.; Ward, Rebecca A.; Hudson, Melissa; Liu, Xudong

    2015-01-01

    Identification of early signs of Autism Spectrum Disorder (ASD) could lead to earlier diagnosis and intervention. This cross-sectional study used the Parent Observation of Early Markers Scale (POEMS, Feldman et al. in "J Autism Dev Disord" 42:13-12, 2012) to identify early signs of ASD in 69 ASD high-risk (older sibling diagnosed with…

  5. Investigating autism spectrum disorder and autistic traits in early onset eating disorder.

    PubMed

    Pooni, Jyoti; Ninteman, Aafke; Bryant-Waugh, Rachel; Nicholls, Dasha; Mandy, William

    2012-05-01

    To investigate whether young people (8-16 years) with an eating disorder have a higher prevalence of autism spectrum disorder (ASDs) and elevated autistic traits compared to typically developing (TD) peers. Twenty-two participants with early onset eating disorder (EOED) were assessed using standardized ASD measures and compared to IQ matched TD (n = 24) and ASD (n = 20) controls. An ASD diagnosis was no more common in EOED than in TD controls. However, repetitive and stereotyped behavior was more often observed in the EOED group and, compared to TD controls, there was a trend (p = .07) toward greater autistic social impairment in EOED. Whilst participants with EOED did not show increased ASD prevalence, they did have elevated autistic traits of clinical significance, particularly repetitive and stereotyped behavior. Further work is required to determine whether inflexibility and social difficulties in EOED have identical phenomenology and etiology to those seen in ASD. Copyright © 2012 Wiley Periodicals, Inc.

  6. Extending Childhood into the Teen Years: "Infantilization" and Its Consequences

    ERIC Educational Resources Information Center

    Skager, Rodney

    2009-01-01

    Young people sandwiched between childhood and adulthood often rebel when adults treat them like children rather than with the respect that acknowledges their intelligence and potential. Research and theory supporting the view of "infantilizing" adolescents has proliferated. The extent to which modern cultures infantilize youth is evident in…

  7. Brief Report: Longitudinal Improvements in the Quality of Joint Attention in Preschool Children with Autism

    ERIC Educational Resources Information Center

    Lawton, Kathy; Kasari, Connie

    2012-01-01

    Children with autism exhibit deficits in their quantity and quality of joint attention. Early autism intervention studies rarely document improvement in joint attention quality. The purpose of this study was to determine whether there was a change in joint attention quality for preschoolers with autism who were randomized to a joint attention…

  8. Who Benefits from Early Intervention in Autism Spectrum Disorders?

    ERIC Educational Resources Information Center

    Itzchak, Esther Ben; Zachor, Ditza A.

    2011-01-01

    Research in autism spectrum disorders (ASD) described individual differences in response to intervention. This study explored child and parental characteristics at baseline that predict outcomes in adaptive skills and acquisition of cognitive gains. Seventy-eight children aged 15-35 months diagnosed with ASD by standardized diagnostic tools were…

  9. The hazards of honey: infantile botulism

    PubMed Central

    Smith, Jennifer K; Burns, Sarah; Cunningham, Steve; Freeman, Julie; McLellan, Ailsa; McWilliam, Kenneth

    2010-01-01

    Infantile botulism is a rare cause of neuromuscular weakness resulting from ingestion of Clostridium botulinum—an anaerobic Gram-positive bacillus found universally in soil. The only definite food source known to cause infantile botulism is honey; previously, links to formula milk have been postulated but not definitely sourced. We present an interesting case report of a 2-month-old infant with this rare condition, including the diagnostic difficulties that ensued. A brief overview of the condition follows. This is the first case in the UK in which C botulinum was successfully isolated from both the patient and the suspected source—a jar of honey. The importance of food labelling as a public health message is highlighted. PMID:22778374

  10. Early Social, Imitation, Play, and Language Abilities of Young Non-Autistic Siblings of Children with Autism

    ERIC Educational Resources Information Center

    Toth, Karen; Dawson, Geraldine; Meltzoff, Andrew N.; Greenson, Jessica; Fein, Deborah

    2007-01-01

    Studies are needed to better understand the broad autism phenotype in young siblings of children with autism. Cognitive, adaptive, social, imitation, play, and language abilities were examined in 42 non-autistic siblings and 20 toddlers with no family history of autism, ages 18-27 months. Siblings, as a group, were below average in expressive…

  11. Measuring Change in Social Interaction Skills of Young Children with Autism

    ERIC Educational Resources Information Center

    Cunningham, Allison B.

    2012-01-01

    Designing effective treatments for improving early social behaviors in autism has been identified as a critical research need. One barrier to drawing conclusions about optimal treatments for children with autism is the use of highly varied dependent measures in the treatment literature. Contributing to this is the absence of "gold standard"…

  12. Assessing early communication skills at 12 months: a retrospective study of Autism Spectrum Disorder.

    PubMed

    Swain, Nathaniel Robert; Eadie, Patricia Ann; Prior, Margot Ruth; Reilly, Sheena

    2015-07-01

    Early identification of Autism Spectrum Disorder (ASD) is currently limited by the absence of reliable biological markers for the disorder, as well as the reliability of screening and assessment tools for children aged between 6 and 18 months. Ongoing research has demonstrated the importance of early social communication skills in differentiating children later diagnosed with ASD from their typically developing (TD) peers, but researchers have not yet investigated whether these differences can be detected using community-ascertained systematic observation data as early as 12 months. To investigate whether differences in early social communication skills can be detected at 12 months of age, comparing children later diagnosed with ASD, and TD peers; and to determine whether differences remain when groupings are based on age of subsequent ASD diagnosis. From a prospective community-ascertained sample, we collected data on children in early life, then conducted retrospective analyses for those children who were later diagnosed with ASD by the age of 7 years, compared with matched TD peers. We analysed standardized observational data of early communication skills, collected using the Communication and Symbolic Behavior Scales-Developmental Profile (CSBS-DP) Behavior Sample, when participants were 12 months of age. Children in the ASD group exhibited significantly lower social communication skills than the TD group, including on the Total score and Social and Symbolic Composite scores of the CSBS-DP Behavior Sample. Differences on the Total score and Social Composite were also detected for both early and late ASD diagnosis groups when compared with the TD group. These findings give further support for the importance of social communication in assessing children at risk of ASD as early as 12 months of age. Future research could evaluate the sensitivity and specificity of direct observation of these early communication skills as diagnostic indicators for ASD at 12 months

  13. [Infantile hemangioma and propranolol: a therapeutic "revolution". Literature review].

    PubMed

    Yilmaz, L; Dangoisse, C; Semaille, P

    2013-01-01

    Infantile hemangioma (IH) is the most common benign vascular tumour affecting children. Most infantile hemangiomas are self-limiting, but some require specific treatment. Propranolol has been proposed for the treatment of infantile hemangiomas. The aim of this study is to explore the mechanism of action of propranolol for the treatment of infantile hemangiomas and to demonstrate its safety and efficacy through a review of the literature. The non cardioselective bêta-blocker propranolol has been used in a pediatric setting for 40 years and, since 2008, has a new indication. A clearly significant improvement has been observed in the condition of children with complicated IH (10%) treated with propranolol. This new indication has been widely described in the international literature. Various explanations have been put forward for the mechanism of action including a vasoconstrictor, antiangiogenic and apoptotic effect of propranolol on the different cells making up an IH. Overall tolerance is good and the efficacy markedly superior to that of any other treatments used for this purpose. In conclusion, with its good tolerance profile and superior efficacy versus all the other available therapies, propranolol can be considered to be a first-line treatment for complicated IH.

  14. Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas.

    PubMed

    Horii, Kimberly A; Drolet, Beth A; Frieden, Ilona J; Baselga, Eulalia; Chamlin, Sarah L; Haggstrom, Anita N; Holland, Kristen E; Mancini, Anthony J; McCuaig, Catherine C; Metry, Denise W; Morel, Kimberly D; Newell, Brandon D; Nopper, Amy J; Powell, Julie; Garzon, Maria C

    2011-01-01

    Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment. © 2011 Wiley Periodicals, Inc.

  15. Management of a patient with autism following ingestion of a foreign body.

    PubMed

    McCain, Stephen; Tan, Samantha; Mark, David

    2014-06-25

    Patients with autism often find admission to hospital an anxious time. Awareness of the condition, a speedy diagnosis and flexibility in adapting treatment plans will facilitate early discharge and return to their familiar environment. We describe a patient with severe autism who presented with an acute abdomen secondary to ingestion of a foreign body which required laparotomy. Communication directly to medical staff was greatly limited due to severe autism and close liaison with family members was essential in interpreting scant clinical signs. At the time of surgery a rubber bottle teat was found causing transection of small bowel due to erosion of the foreign body. The postoperative course was fraught with challenges and ensuring side room nursing care with family members present throughout his admission minimised postoperative stress and confusion. We recommend awareness of management strategies for patients with autism to ensure rapid recovery and early discharge home. 2014 BMJ Publishing Group Ltd.

  16. Comparison of urinary oxidative biomarkers in Iranian children with autism.

    PubMed

    Ranjbar, Akram; Rashedi, Vahid; Rezaei, Mohammad

    2014-11-01

    Autism is a complex neurodevelopmental disorder usually presents in early childhood and thought to be influenced by genetic and environmental factors. Individuals with autism vary widely in abilities, intelligence, and behaviors. It is common for children with autism to exhibit eating disorders and some have preferences for soft and sweetened food making them susceptible to caries. Furthermore, a wide spectrum of medical and behavioral symptoms exhibited by children with autism makes routine dental care very difficult. Intellectual disability is evident in approximately 70% of individuals with autism and most psychiatric disorders, including autism, are associated with increased oxidative stress. 29 subjects diagnosed with autism, in the age group of 6 to 12 years, were a part of the study. Furturemore, 24 normal healthy siblings of same age group were taken as the control group. The present study aimed to evaluate oxidative stress biomarkers such as urinary total antioxidant concentration (TAC), catalase activity (CAT) and total thiol molecules (TTM). The results showed the autism group have significantly higher CAT activity and concomitant lower TAC and TTM concentration in comparison with control group. The results are discussed in relation to an increased vulnerability to oxidative damage, which may contribute to the development and clinical manifestation of symptoms of autism. Copyright © 2014 Elsevier Ltd. All rights reserved.

  17. 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

  18. Theory of Mind Indexes the Broader Autism Phenotype in Siblings of Children with Autism at School Age.

    PubMed

    Tsang, Tawny; Gillespie-Lynch, Kristen; Hutman, Ted

    2016-01-01

    Subclinical variants of the social-communicative challenges and rigidity that define autism spectrum disorder (ASD) are known as the broader autism phenotype (BAP). The BAP has been conceptualized categorically (as specific to a subset of relatives of individuals with ASD) and dimensionally (as continuously distributed within the general population). The current study examined the compatibility of these two approaches by assessing associations among autism symptoms and social-communicative skills in young school-age children with ASD, children who have a sibling with ASD, and children without a sibling with ASD. Autism symptoms were associated with reduced Theory of Mind (ToM), adaptive skills, cognitive empathy, and language skills across the full sample. Reduced ToM was a core aspect of the BAP in the current sample regardless of whether the BAP was defined categorically (in terms of siblings of children with ASD who exhibited atypical developmental) or dimensionally (in terms of associations with autism symptoms across the entire sample). Early language skills predicted school-age ToM. Findings support the compatibility of categorical and dimensional approaches to the BAP, highlight reduced ToM as a core aspect of the school-age BAP, and suggest that narrative-based approaches to promoting ToM may be beneficial for siblings of children with ASD.

  19. [Autism: toward a necessary cultural revolution].

    PubMed

    Chamak, Brigitte; Cohen, David

    2003-11-01

    Autism is a pervasive developmental disorder of childhood characterised by disturbances in both social interactions and communication as well as stereotyped patterns of activities and behaviour. The increase in estimates of the prevalence of autism has raised the question of an "epidemic" of autism. More active case assessment and changes in diagnostic criteria probably account in large part for such increase. Investigators have attempted to define the neural pathophysiology of autism ever since the hypothesis of "refrigerator mother" as its cause was replaced by the view that it is a developmental disorder of the immature brain. However consensus is yet to be reached concerning the brain regions implicated. Psychoanalysis, cognitive psychology, neurophysiology, neuropharmacology, and genetics propose restricted view of the major issues leaving extensive areas unexplored. Therapeutic approaches induce only partial and uncertain results. There is no cure for autism but substantial evidence indicates that early, intensive, individualised education is beneficial for children. All modern intervention programs for autism affected children share a high degree of environmental structuring and predictability and an extensive individual approach. Autism being a behaviourally defined syndrome, it gave rise to a number of controversies concerning definition, classification, etiopathogenesis and therapeutics. In the 1990s a crisis has occurred in France with a loss of confidence between parents and psychiatrists with a problem concerning the means and ways of care of the autistic individual. The aim of this paper is to point out the different questions raised by autism in order to better understand this syndrome which touches upon essential behaviour-related aspects such as self consciousness, reality perception, the functioning of the thought and communication, as well as the role of hereditary and acquired influences in normal and pathological development.

  20. MRI study of minor physical anomaly in childhood autism implicates aberrant neurodevelopment in infancy.

    PubMed

    Cheung, Charlton; McAlonan, Grainne M; Fung, Yee Y; Fung, Germaine; Yu, Kevin K; Tai, Kin-Shing; Sham, Pak C; Chua, Siew E

    2011-01-01

    MPAs (minor physical anomalies) frequently occur in neurodevelopmental disorders because both face and brain are derived from neuroectoderm in the first trimester. Conventionally, MPAs are measured by evaluation of external appearance. Using MRI can help overcome inherent observer bias, facilitate multi-centre data acquisition, and explore how MPAs relate to brain dysmorphology in the same individual. Optical MPAs exhibit a tightly synchronized trajectory through fetal, postnatal and adult life. As head size enlarges with age, inter-orbital distance increases, and is mostly completed before age 3 years. We hypothesized that optical MPAs might afford a retrospective 'window' to early neurodevelopment; specifically, inter-orbital distance increase may represent a biomarker for early brain dysmaturation in autism. We recruited 91 children aged 7-16; 36 with an autism spectrum disorder and 55 age- and gender-matched typically developing controls. All children had normal IQ. Inter-orbital distance was measured on T1-weighted MRI scans. This value was entered into a voxel-by-voxel linear regression analysis with grey matter segmented from a bimodal MRI data-set. Age and total brain tissue volume were entered as covariates. Intra-class coefficient for measurement of the inter-orbital distance was 0.95. Inter-orbital distance was significantly increased in the autism group (p = 0.03, 2-tailed). The autism group showed a significant relationship between inter-orbital distance grey matter volume of bilateral amygdalae extending to the unci and inferior temporal poles. Greater inter-orbital distance in the autism group compared with healthy controls is consistent with infant head size expansion in autism. Inter-orbital distance positively correlated with volume of medial temporal lobe structures, suggesting a link to "social brain" dysmorphology in the autism group. We suggest these data support the role of optical MPAs as a "fossil record" of early aberrant

  1. Developmental vitamin D deficiency and autism: Putative pathogenic mechanisms.

    PubMed

    Ali, Asad; Cui, Xiaoying; Eyles, Darryl

    2018-01-01

    Autism is a neurodevelopmental disease that presents in early life. Despite a considerable amount of studies, the neurobiological mechanisms underlying autism remain obscure. Both genetic and environmental factors are involved in the development of autism. Vitamin D deficiency is emerging as a consistently reported risk factor in children. One reason for the prominence now being given to this risk factor is that it would appear to interact with several other epidemiological risk factors for autism. Vitamin D is an active neurosteroid and plays crucial neuroprotective roles in the developing brain. It has important roles in cell proliferation and differentiation, immunomodulation, regulation of neurotransmission and steroidogenesis. Animal studies have suggested that transient prenatal vitamin D deficiency is associated with altered brain development. Here we review the potential neurobiological mechanisms linking prenatal vitamin D deficiency and autism and also discuss what future research targets must now be addressed. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  2. The relationship of motor skills and adaptive behavior skills in young children with autism spectrum disorders

    PubMed Central

    MacDonald, Megan; Lord, Catherine; Ulrich, Dale

    2015-01-01

    Objective To determine the relationship of motor skills and the core behaviors of young children with autism, social affective skills and repetitive behaviors, as indicated through the calibrated autism severity scores. Design The univariate GLM tested the relationship of gross and fine motor skills measured by the gross motor scale and the fine motor scale of the MSEL with autism symptomology as measured by calibrated autism severity scores. Setting Majority of the data collected took place in an autism clinic. Participants A cohort of 159 young children with ASD (n=110), PDD-NOS (n=26) and non-ASD (developmental delay, n=23) between the ages of 12–33 months were recruited from early intervention studies and clinical referrals. Children with non-ASD (developmental delay) were included in this study to provide a range of scores indicted through calibrated autism severity. Interventions Not applicable. Main Outcome Measures The primary outcome measures in this study were calibrated autism severity scores. Results Fine motor skills and gross motor skills significantly predicted calibrated autism severity (p < 0.01). Children with weaker motor skills displayed higher levels of calibrated autism severity. Conclusions The fine and gross motor skills are significantly related to autism symptomology. There is more to focus on and new avenues to explore in the realm of discovering how to implement early intervention and rehabilitation for young children with autism and motor skills need to be a part of the discussion. PMID:25774214

  3. 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

  4. 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.

  5. Endemic characteristics of infantile visceral leishmaniasis in the People's Republic of China.

    PubMed

    Fu, Qing; Li, Shi-Zhu; Wu, Wei-Ping; Hou, Yan-Yan; Zhang, Song; Feng, Yu; Zhang, Li-Ping; Tang, Lin-Hua

    2013-05-17

    Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. The endemic situation of infantile VL is serious, and there are several active foci of

  6. Brief Report: Screening Tool for Autism in Two-Year-Olds (STAT): Development and Preliminary Data.

    ERIC Educational Resources Information Center

    Stone, Wendy L.; Coonrod, Elaine E.; Ousley, Opal Y.

    2000-01-01

    A study examined the validity of the Screening Tool for Autism in Two-Year-Olds (STAT) as a stage 2 screening instrument in a clinic-based sample of two-year-olds with autism (n=12) and with nonautistic developmental disorders (n=21). Results provide preliminary support for the utility of the STAT as an early screening of autism. (Contains…

  7. Autism: maternally derived antibodies specific for fetal brain proteins.

    PubMed

    Braunschweig, Daniel; Ashwood, Paul; Krakowiak, Paula; Hertz-Picciotto, Irva; Hansen, Robin; Croen, Lisa A; Pessah, Isaac N; Van de Water, Judy

    2008-03-01

    Autism is a profound disorder of neurodevelopment with poorly understood biological origins. A potential role for maternal autoantibodies in the etiology of some cases of autism has been proposed in previous studies. To investigate this hypothesis, maternal plasma antibodies against human fetal and adult brain proteins were analyzed by western blot in 61 mothers of children with autistic disorder and 102 controls matched for maternal age and birth year (62 mothers of typically developing children (TD) and 40 mothers of children with non-ASD developmental delays (DD)). We observed reactivity to two protein bands at approximately 73 and 37kDa in plasma from 7 of 61 (11.5%) mothers of children with autism (AU) against fetal but not adult brain, which was not noted in either control group (TD; 0/62 p=0.0061 and DD; 0/40 p=0.0401). Further, the presence of reactivity to these two bands was associated with parent report of behavioral regression in AU children when compared to the TD (p=0.0019) and DD (0.0089) groups. Individual reactivity to the 37kDa band was observed significantly more often in the AU population compared with TD (p=0.0086) and DD (p=0.002) mothers, yielding a 5.69-fold odds ratio (95% confidence interval 2.09-15.51) associated with this band. The presence of these antibodies in the plasma of some mothers of children with autism, as well as the differential findings between mothers of children with early onset and regressive autism may suggest an association between the transfer of IgG autoantibodies during early neurodevelopment and the risk of developing of autism in some children.

  8. Educational and Behavioral Interventions in Management of Autism Spectrum Disorder.

    PubMed

    Sengupta, Koyeli; Lobo, Leera; Krishnamurthy, Vibha

    2017-01-01

    The increasing prevalence of autism spectrum disorder (ASD) makes early recognition, evaluation and management an important task for pediatricians, physicians and other professionals caring for children. Educational interventions form the mainstay of management for children with autism spectrum disorder. Such interventions focus on improving social interaction, communication and challenging behaviors, thereby promoting learning and independence in children. This article provides an overview of educational and behavioral interventions in autism spectrum disorder, with special reference to challenges and feasible solutions in the Indian context. Articles were retrieved from various databases including Google Scholar, Medscape, Cochrane, PubMed using the search terms 'autism spectrum disorder OR autism AND educational interventions'; 'autism spectrum disorder OR autism, educational interventions AND India' and 'autism spectrum disorder OR autism AND India'. Reference lists from retrieved articles as well as websites of organizations working in this space in India were also searched. Extracted manuscripts were analysed for content related to various aspects of educational and behavioral interventions in autism spectrum disorder. Intervention models for autism spectrum disorder are based on various theoretical orientations and target specific deficits associated with the disorder. In addition, evidence-based principles for effective intervention are highlighted. In developing countries like India, access to interventions is a challenge and resources are limited. In such settings, the pediatrician's or physician's role is vital in supporting families choose programs that are evidence-based, target individual needs and result in improved outcomes.

  9. The role of melatonin and cortisol circadian rhythms in the pathogenesis of infantile colic.

    PubMed

    İnce, Tolga; Akman, Hakkı; Çimrin, Dilek; Aydın, Adem

    2018-03-05

    Despite the high prevalence of infantile colic, the pathogenesis remains incompletely understood. Cortisol and melatonin hormones affect gastrointestinal system development in several ways, and interestingly, both cortisol and melatonin's circadian rhythms begin around the 3rd month in which infantile colic symptoms start to decrease. We hypothesized that infantile colic might associate with desynchronization of normal circadian rhythms of these hormones. In this study, we aimed to investigate the role of melatonin and cortisol in the pathogenesis of infantile colic. Patients who were diagnosed as infantile colic according to Wessel's "rule of three" were enrolled in the colic group. We measured the saliva melatonin and cortisol levels of colic group and control group infants. In both groups, the saliva samples were taken in mornings and at evenings, at the time of diagnosis and 6th month. Fifty-five infants finished the study. Melatonin circadian rhythm developed earlier in the control group than the infantile colic group in our study. We found no significant difference between the daily mean cortisol levels. However, infants with colic had flatter daily cortisol slope than controls which pointed out the probability that they had a less clearly defined cortisol rhythm than infants without colic. We found an association between melatonin levels and infantile colic. However, more research is needed to fully understand the role of hypothalamic-pituitary-adrenal axis and hormone's role on infantile colic physiopathology.

  10. Sleep Disorder, Gastrointestinal Problems and Behaviour Problems Seen in Autism Spectrum Disorder Children and Yoga as Therapy: A Descriptive Review

    PubMed Central

    Pradhan, Balaram; Navaneetham, Janardhana

    2016-01-01

    Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with deficiencies in many developmental milestones during the infantile childhood. Recent researches have shown that apart from behaviour problems, the ASD children also suffer from physiological conditions such as disturbed sleep and gastrointestinal problems that could be the contributing factors to their daytime behaviour problems. Lots of parents have expressed that, lack of sleep among the children have resulted in high levels of stress among the family members particularly among the immediate caretakers which are in most cases the mother of the child. Early behaviour intervention is a norm for ASD children which mainly affect the psychological level. Through this paper, an effort has been made to study the contributions made by yoga in order to mitigate such problems. Yoga is a non-invasive and alternative therapy that brings change in both physiological and psychological level of an individual. High levels of stress among the caretakers of these children could make them susceptible to non-communicable diseases such as hypertension, diabetes, arthritis etc. Parental based yoga intervention can be more effective for both children and parents and subsequently to the entire family. PMID:28050484

  11. [Early development of language in small children with autism spectrum disorder using alternative systems].

    PubMed

    Fortea-Sevilla, M Sol; Escandell-Bermúdez, M Olga; Castro-Sánchez, José Juan; Martos-Pérez, Juan

    2015-02-25

    The latest research findings show the importance of early intervention in children with autism spectrum disorder (ASD) in all areas of development, including language. The use of augmentative and alternative communication systems (AACS) favors linguistic and communicative development. To show the effectiveness of AACS to develop oral language in non-verbal toddlers diagnosed with ASD. Thirty children (25 males and 5 females) diagnosed with ASD when they were between 18 and 30 months of age, through the instruments ADOS and ADIR. None of them displayed oral language development at the time of assessment. An intervention program in the area of language was designed based on the use of total communication by the therapist and training the child in the Picture Exchange Communication System (PECS). One year later, the formal aspects of language were assessed with the PLON-R because oral language had been developed. All the children had developed oral language to some extent over a one-year period. Early intervention and the use of AACS with visual props favor the development of oral language in children with ASD in the first years of life.

  12. Beard infantile hemangioma and subglottic involvement: are median pattern and telangiectatic aspect the clue?

    PubMed

    Piram, M; Hadj-Rabia, S; Boccara, O; Couloigner, V; Hamel-Teillac, D; Bodemer, C

    2016-12-01

    Identification of patient at risk of subglottic infantile hemangioma (IH) is challenging because subglottic IH can grow fast and cause airway obstruction with a fatal course. To refine the cutaneous IH pattern at risk of subglottic IH. Prospective and retrospective review of patients with cutaneous IH involving the beard area. IHs were classified in the bilateral pattern group (BH) or in the unilateral pattern group (UH). Infantile hemangioma topography, subtype (telangiectatic or tuberous), ear, nose and throat (ENT) manifestations and subglottic involvement were recorded. Thirty-one patients (21 BH and 10 UH) were included during a 20-year span. Nineteen patients (16 BH and 3 UH) had subglottic hemangioma. BH and UH group overlap on the median pattern (tongue, gum, lips, chin and neck). Median pattern, particularly the neck area and telangiectatic subtype of IH were significantly associated with subglottic involvement. Patients presenting with telangiectatic beard IH localized on the median area need early ENT exploration. They should be treated before respiratory symptoms occur. © 2016 European Academy of Dermatology and Venereology.

  13. Disruption of an Evolutionarily Novel Synaptic Expression Pattern in Autism

    PubMed Central

    Jiang, Xi; Hu, Haiyang; Guijarro, Patricia; Mitchell, Amanda; Ely, John J.; Sherwood, Chet C.; Hof, Patrick R.; Qiu, Zilong; Pääbo, Svante; Akbarian, Schahram; Khaitovich, Philipp

    2016-01-01

    Cognitive defects in autism spectrum disorder (ASD) include socialization and communication: key behavioral capacities that separate humans from other species. Here, we analyze gene expression in the prefrontal cortex of 63 autism patients and control individuals, as well as 62 chimpanzees and macaques, from natal to adult age. We show that among all aberrant expression changes seen in ASD brains, a single aberrant expression pattern overrepresented in genes involved synaptic-related pathways is enriched in nucleotide variants linked to autism. Furthermore, only this pattern contains an excess of developmental expression features unique to humans, thus resulting in the disruption of human-specific developmental programs in autism. Several members of the early growth response (EGR) transcription factor family can be implicated in regulation of this aberrant developmental change. Our study draws a connection between the genetic risk architecture of autism and molecular features of cortical development unique to humans. PMID:27685936

  14. [Association between time of permanence at early education program (Estancias Infantiles) and developmental level for children in situation of poverty].

    PubMed

    Rizzoli-Córdoba, Antonio; Vargas-Carrillo, Laura Ibernia; Vásquez-Ríos, Jorge Rodrigo; Reyes-Morales, Hortensia; Villasís-Keever, Miguel Ángel; O'Shea-Cuevas, Gabriel; Aceves-Villagrán, Daniel; Muñoz-Hernández, Onofre; García-Aranda, José Alberto

    Early education program (EEP) was created to support parents with 1 to 3 year olds living in poverty situation in Mexico, and includes education and child daycare for 8h five days per week. The objective of this study was to evaluate the association between length of stay in EEP and the level of development in children. Cross sectional, population-based study conducted in two Mexican states. All children aged between 12 to 48 months enrolled in EEP from November 2014 to January 2015 were included. Child Development Evaluation (CDE) test was used to screen early development in every child. Normal early development prevalence odds ratio (OR) was calculated adjusted by gender, impairment and state, using as a reference those children with less than 30 days in the program. The study included 3,387 children from 177 EEP nurseries, from which 53% were male; age by group was divided in 12-24 months (22.3%), 25-36 months (37.6%) and 37-42 months (40.1%). Normal development adjusted OR by age was 1.9 (CI95%: 1.30-2.78) for 6-11 months, 2.36 (CI95%: 1.60-3.50) for 12-17 months, 2.78 (CI95%: 1.65-4.65) for 18-23 months and 3.46 (CI95%: 2.13-5.60) for >24 months. By area of development, a greater probability of having a normal result for language and social areas was observed after 6 months in the program, and for motor (both gross and fine) and knowledge areas after 12 months. The length of the stay in the EEP after 6 months significantly and progressively increases the probability of normal development regardless of gender and age. Copyright © 2017 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  15. Screening Young Children for Autism Spectrum Disorders in Primary Practice

    ERIC Educational Resources Information Center

    Barton, Marianne L.; Dumont-Mathieu, Thyde; Fein, Deborah

    2012-01-01

    The increasing prevalence of autism spectrum disorders as well as emerging evidence of the efficacy of early intervention has focused attention on the need for early identification of young children suspected of having an ASSD. Several studies have suggested that while parents report concerns early in development, it may be months before children…

  16. YouTube videos as a teaching tool and patient resource for infantile spasms.

    PubMed

    Fat, Mary Jane Lim; Doja, Asif; Barrowman, Nick; Sell, Erick

    2011-07-01

    The purpose of this study was to assess YouTube videos for their efficacy as a patient resource for infantile spasms. Videos were searched using the terms infantile spasm, spasm, epileptic spasm, and West syndrome. The top 25 videos under each term were selected according to set criteria. Technical quality, diagnosis of infantile spasms, and suitability as a teaching resource were assessed by 2 neurologists using the Medical Video Rating Scale. There were 5858 videos found. Of the 100 top videos, 46% did not meet selection criteria. Mean rating for technical quality was 4.0 of 5 for rater 1 and 3.9 of 5 for rater 2. Raters found 60% and 64% of videos to accurately portray infantile spasms, respectively, with significant agreement (Cohen κ coefficient = 0.75, P < .001). Ten videos were considered excellent examples (grading of 5 of 5) by at least 1 rater. YouTube may be used as an excellent patient resource for infantile spasms if guided search practices are followed.

  17. Could head circumference be used to screen for autism in young males with developmental delay?

    PubMed

    Gray, Kylie M; Taffe, John; Sweeney, Deborah J; Forster, Sheridan; Tonge, Bruce J

    2012-04-01

    Research has suggested an abnormal acceleration in head circumference growth in children with autism within the first 12 months of life. This study aimed to examine head circumference at birth and head circumference growth rates in young children with autism and developmental delay, and young children with developmental delay without autism. This study assessed head circumference at birth and rate of change in head circumference in young children with autism (n=86) and children with developmental delay without autism (n=40). For both groups of children, head circumference at birth and head circumference growth were compared with Centers for Disease Control normative data. No differences were found between the group of children with autism and developmental delay compared with the group with developmental delay only. However, when the sample was compared with a range of selected Centers for Disease Control normative medians, the children with autism were found to have significantly smaller head circumferences at birth and significantly larger head circumference at 18.5 months of age. These results are discussed in relation to the potential of accelerated head circumference growth as an early marker for autism. This study failed to find a difference in the head circumferences of children with autism and developmental delay and children with developmental delay only, thus suggesting that head circumference measurement has limited value as an early marker for autism. © 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  18. Self-regulation and quality of life in high-functioning young adults with autism.

    PubMed

    Dijkhuis, Renee R; Ziermans, Tim B; Van Rijn, Sophie; Staal, Wouter G; Swaab, Hanna

    2017-10-01

    Autism is generally associated with poor functional outcome but little is known about predictors of quality of life, especially during early adulthood. This study was conducted to assess subjective quality of life during early adulthood in high-functioning autism spectrum disorder and its relation with self-regulating abilities. Individuals with high-functioning autism spectrum disorder who progressed into post-secondary higher education ( N = 75) were compared to a typical peer control group ( N = 28) based on behavioral self-report questionnaires. The results indicated that individuals with high-functioning autism spectrum disorder reported significantly lower subjective quality of life than typical controls ( p < 0.001, effect size ( d) = 1.84). In addition, individuals with high-functioning autism spectrum disorder reported more problems with emotion processing ( p < 0.05, effect size ( d) = 0.79) and daily executive functioning ( p < 0.001, effect size ( d) = 1.29) than controls. A higher level of executive functioning problems was related to lower quality of life in the high-functioning autism spectrum disorder group, but no significant relation between level of emotion processing and subjective quality of life became apparent in the regression analysis. Our findings show that even in high-functioning young adults with autism, executive functioning, emotion processing, and subjective quality of life are low compared to typically developing peers. Furthermore, these results emphasize the importance of targeting executive functioning problems in individuals with autism to improve subjective quality of life.

  19. Self-regulation and quality of life in high-functioning young adults with autism

    PubMed Central

    Dijkhuis, Renee R; Ziermans, Tim B; Van Rijn, Sophie; Staal, Wouter G; Swaab, Hanna

    2016-01-01

    Background: Autism is generally associated with poor functional outcome but little is known about predictors of quality of life, especially during early adulthood. This study was conducted to assess subjective quality of life during early adulthood in high-functioning autism spectrum disorder and its relation with self-regulating abilities. Individuals with high-functioning autism spectrum disorder who progressed into post-secondary higher education (N = 75) were compared to a typical peer control group (N = 28) based on behavioral self-report questionnaires. The results indicated that individuals with high-functioning autism spectrum disorder reported significantly lower subjective quality of life than typical controls (p < 0.001, effect size (d) = 1.84). In addition, individuals with high-functioning autism spectrum disorder reported more problems with emotion processing (p < 0.05, effect size (d) = 0.79) and daily executive functioning (p < 0.001, effect size (d) = 1.29) than controls. A higher level of executive functioning problems was related to lower quality of life in the high-functioning autism spectrum disorder group, but no significant relation between level of emotion processing and subjective quality of life became apparent in the regression analysis. Our findings show that even in high-functioning young adults with autism, executive functioning, emotion processing, and subjective quality of life are low compared to typically developing peers. Furthermore, these results emphasize the importance of targeting executive functioning problems in individuals with autism to improve subjective quality of life. PMID:27407040

  20. Practitioner’s Guide to Assessment of Autism Spectrum Disorders in Infants and Toddlers

    PubMed Central

    Goldsmith, Tina R.; Snow, Anne V.; Chawarska, Katarzyna

    2016-01-01

    Recent advances in clinical research have made it possible to diagnosis autism spectrum disorders (ASD) as early as the second year of life. The diagnostic process early in development is often complex, and thus, familiarity with the most recent findings in clinical assessment instruments, early symptoms, and developmental trajectories of young children with autism is essential. This paper provides an empirically based practitioner’s guide to issues and concerns related to early diagnosis of ASD in very young children, documentation of the course and patterns of ASD symptomatology in infants and toddlers, and current understanding in the field of diagnostic outcomes of children identified in the first and second year of life. PMID:22057879

  1. Fetal exposure to teratogens: evidence of genes involved in autism.

    PubMed

    Dufour-Rainfray, Diane; Vourc'h, Patrick; Tourlet, Sébastien; Guilloteau, Denis; Chalon, Sylvie; Andres, Christian R

    2011-04-01

    Environmental challenges during the prenatal period can result in behavioral abnormalities and cognitive deficits that appear later in life such as autism. Prenatal exposure to valproic acid, ethanol, thalidomide and misoprostol has been shown to be associated with an increased incidence of autism. In addition, rodents exposed in utero to some of these drugs show autism-like abnormalities, including brain changes and lifelong behavior dysfunction. Our aim is to summarize current understanding of the relationship between in utero exposure to these drugs and autism in humans and in autism-like animal model phenotypes. It also highlights the importance of these models to understanding the neurobiology of autism, particularly in the identification of susceptibility genes. These drugs are able to modulate the expression of many genes involved in processes such as proliferation, apoptosis, neuronal differentiation and migration, synaptogenesis and synaptic activity. It seems essential to focus research on genes expressed during early neurodevelopment which may be the target of mutations or affected by drugs such as those included in this review. Copyright © 2011. Published by Elsevier Ltd.

  2. Autism: Diagnosis

    MedlinePlus

    ... Resources Treatment Options Family Issues Autism Friendly Community Inclusion Future Planning How the Autism Society can Help ... Resources Treatment Options Family Issues Autism Friendly Community Inclusion Future Planning How the Autism Society can Help ...

  3. Autism and thimerosal-containing vaccines: lack of consistent evidence for an association.

    PubMed

    Stehr-Green, Paul; Tull, Peet; Stellfeld, Michael; Mortenson, Preben-Bo; Simpson, Diane

    2003-08-01

    In 1999, concerns were raised that vaccines containing the preservative Thimerosal might increase the risk of autism and/or other neurodevelopmental disorders. Between the mid-1980s through the late-1990s, we compared the prevalence/incidence of autism in California, Sweden, and Denmark with average exposures to Thimerosal-containing vaccines. Graphic ecologic analyses were used to examine population-based data from the United States (national immunization coverage surveys and counts of children diagnosed with autism-like disorders seeking special education services in California); Sweden (national inpatient data on autism cases, national vaccination coverage levels, and information on use of all vaccines and vaccine-specific amounts of Thimerosal); and Denmark (national registry of inpatient/outpatient-diagnosed autism cases, national vaccination coverage levels, and information on use of all vaccines and vaccine-specific amounts of Thimerosal). In all three countries, the incidence and prevalence of autism-like disorders began to rise in the 1985-1989 period, and the rate of increase accelerated in the early 1990s. However, in contrast to the situation in the United States, where the average Thimerosal dose from vaccines increased throughout the 1990s, Thimerosal exposures from vaccines in both Sweden and Denmark-already low throughout the 1970s and 1980s-began to decrease in the late 1980s and were eliminated in the early 1990s. The body of existing data, including the ecologic data presented herein, is not consistent with the hypothesis that increased exposure to Thimerosal-containing vaccines is responsible for the apparent increase in the rates of autism in young children being observed worldwide.

  4. Epilepsy in patients with autism: links, risks and treatment challenges.

    PubMed

    Besag, Frank Mc

    2018-01-01

    Autism is more common in people with epilepsy, approximately 20%, and epilepsy is more common in people with autism with reported rates of approximately 20%. However, these figures are likely to be affected by the current broader criteria for autism spectrum disorder (ASD), which have contributed to an increased prevalence of autism, with the result that the rate for ASD in epilepsy is likely to be higher and the figure for epilepsy in ASD is likely to be lower. Some evidence suggests that there are two peaks of epilepsy onset in autism, in infancy and adolescence. The rate of autism in epilepsy is much higher in those with intellectual disability. In conditions such as the Landau-Kleffner syndrome and nonconvulsive status epilepticus, the epilepsy itself may present with autistic features. There is no plausible mechanism for autism causing epilepsy, however. The co-occurrence of autism and epilepsy is almost certainly the result of underlying factors predisposing to both conditions, including both genetic and environmental factors. Conditions such as attention deficit hyperactivity disorder, anxiety and sleep disorders are common in both epilepsy and autism. Epilepsy is generally not a contraindication to treating these conditions with suitable medication, but it is important to take account of relevant drug interactions. One of the greatest challenges in autism is to determine why early childhood regression occurs in perhaps 25%. Further research should focus on finding the cause for such regression. Whether epilepsy plays a role in the regression of a subgroup of children with autism who lose skills remains to be determined.

  5. Social-Emotional Correlates of Early Stage Social Information Processing Skills in Children With and Without Autism Spectrum Disorder.

    PubMed

    Russo-Ponsaran, Nicole M; McKown, Clark; Johnson, Jason K; Allen, Adelaide W; Evans-Smith, Bernadette; Fogg, Louis

    2015-10-01

    Difficulty processing social information is a defining feature of autism spectrum disorder (ASD). Yet the failure of children with ASD to process social information effectively is poorly understood. Using Crick and Dodge's model of social information processing (SIP), this study examined the relationship between social-emotional (SE) skills of pragmatic language, theory of mind, and emotion recognition on the one hand, and early stage SIP skills of problem identification and goal generation on the other. The study included a sample of school-aged children with and without ASD. SIP was assessed using hypothetical social situations in the context of a semistructured scenario-based interview. Pragmatic language, theory of mind, and emotion recognition were measured using direct assessments. Social thinking differences between children with and without ASD are largely differences of quantity (overall lower performance in ASD), not discrepancies in cognitive processing patterns. These data support theoretical models of the relationship between SE skills and SIP. Findings have implications for understanding the mechanisms giving rise to SIP deficits in ASD and may ultimately inform treatment development for children with ASD. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  6. [The neurobiology of autism].

    PubMed

    Kotsopoulos, S

    2007-07-01

    The research effort on autism has for several years been intensive. Recent progress in this field is due mainly to the development of increasingly sophisticated visualizing assessment methods of the brain. Most of the evidence reported in this review requires further replication and elaboration by ongoing research. Evidence from volumetric studies indicates that the brain of the child with autism deviates from normal paths at the early stages of development showing excessive growth during the first year and a half involving the hemispheres and the cerebellum. Post mortem studies have shown neuron abnormalities in the frontal and temporal cortex and the cerebellum. Studies using diffusion tensor imaging, an fMRI based method, have shown disruptions between white and grey matter in several areas of the hemispheres. Other studies investigating activation of the cortex showed lack of synchrony and coordination between anterior and posterior areas of the hemispheres. It has been suggested that the deviation in brain development in autism consists of excessive numbers of neurons which cause the cytoarchitectural deviation. A theory suggesting that the basic deficit in autism is due to dysfunction of the "mirror neuron system" requires further substantiation. The aetiology of autism is not known although risk factors have been identified. Predominant among them are genetic influences. The search is currently intensive for an understanding of the pathogenesis of the pathological deviation in the development of the brain in autism. Neurotrophic factors which determine the developmental steps of the brain are examined such as serotonin, brain-derived neurotrophic factor (BDNF), the neuropeptide reelin, neuroligines and others. There is evidence of some involvement of these factors with autism but it is still far from clear how they do interact with one another and how they lead to the pathological deviations observed in autism. The neurotrophic factors are evidently coded by

  7. Serial elongation-derotation-flexion casting for children with early-onset scoliosis.

    PubMed

    Canavese, Federico; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie

    2015-12-18

    Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois.

  8. Serial elongation-derotation-flexion casting for children with early-onset scoliosis

    PubMed Central

    Canavese, Federico; Samba, Antoine; Dimeglio, Alain; Mansour, Mounira; Rousset, Marie

    2015-01-01

    Various early-onset spinal deformities, particularly infantile and juvenile scoliosis (JS), still pose challenges to pediatric orthopedic surgeons. The ideal treatment of these deformities has yet to emerge, as both clinicians and surgeons still face multiple challenges including preservation of thoracic motion, spine and cage, and protection of cardiac and lung growth and function. Elongation-derotation-flexion (EDF) casting is a technique that uses a custom-made thoracolumbar cast based on a three-dimensional correction concept. EDF can control progression of the deformity and - in some cases-coax the initially-curved spine to grow straighter by acting simultaneously in the frontal, sagittal and coronal planes. Here we provide a comprehensive review of how infantile and JS can affect normal spine and thorax and how serial EDF casting can be used to manage these spinal deformities. A fresh review of the literature helps fully understand the principles of the serial EDF casting technique and the effectiveness of conservative treatment in patients with early-onset spinal deformities, particularly infantile and juvenile scolisois. PMID:26716089

  9. Evidenced-Based Interventions for Preschool Children with Autism--Improving the Transition from Early Intervention Programs to School-Based Programs through Purposeful Implementation of Practices That Work

    ERIC Educational Resources Information Center

    Joseph, Tracy A.

    2012-01-01

    Increasing numbers of children with autism are being identified at a younger age, before the age of 3, when their intervention services are coordinated through early intervention service providers. Shortly after starting with services families are faced with their first major transition regarding intervention services when their child turns 3 and…

  10. Randomised controlled trial of an iPad based early intervention for autism: TOBY playpad study protocol.

    PubMed

    Granich, Joanna; Dass, Alena; Busacca, Margherita; Moore, Dennis; Anderson, Angelika; Venkatesh, Svetha; Duong, Thi; Vellanki, Pratibha; Richdale, Amanda; Trembath, David; Cairns, Darin; Marshall, Wendy; Rodwell, Tania; Rayner, Madeleine; Whitehouse, Andrew J O

    2016-10-19

    Evidence for early intensive behavioural interventions (EIBI) by therapists as an effective treatment for children with an Autism Spectrum Disorder (ASD) is growing. High-intensity and sustained delivery of quality EIBI is expensive. The TOBY (Therapy Outcomes by You) Playpad is an App-based platform delivering EIBI to facilitate learning for young children with ASD, while enabling parents to become co-therapists. Intervention targets include increasing joint attention, imitation and communication of children with ASD. The primary aim of the study presented in this protocol is to determine the effectiveness of the TOBY App in reducing ASD symptoms when used as a complement to conventional EIBI. The secondary aim is to examine parental attributes as a result of TOBY App use. Children aged less than 4;3 years diagnosed with ASD and parents will be recruited into this single-blind, randomised controlled trial using a pragmatic approach. Eligible participants will be randomised to the treatment group 'TOBY therapy + therapy as usual' or, the control group 'therapy as usual' for six months. The treatment will be provided by the TOBY App and parent where a combination of learning environments such as on-iPad child only (solo), partner (with parent) and off-iPad - Natural Environment (with parent) Tasks will be implemented. Parents in the treatment group will participate in a TOBY training workshop. Treatment fidelity will be monitored via an App-based reporting system and parent diaries. The primary outcome measure is the Autism Treatment Evaluation Checklist. The secondary outcome measures involve diagnostics, functional and developmental assessments, including parent questionnaires at baseline (T0), three months (T1) and six months (T2). This trial will determine the effectiveness of the TOBY App as a therapeutic complement to other early interventions children with ASD receive. The trial will also determine the feasibility of a parent delivered early intervention

  11. Service System and Cognitive Outcomes for Young Children with Autism Spectrum Disorders in a Rural Area of Taiwan

    ERIC Educational Resources Information Center

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

    2017-01-01

    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…

  12. Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

    PubMed Central

    Götz, Alexandra; Tyynismaa, Henna; Euro, Liliya; Ellonen, Pekka; Hyötyläinen, Tuulia; Ojala, Tiina; Hämäläinen, Riikka H.; Tommiska, Johanna; Raivio, Taneli; Oresic, Matej; Karikoski, Riitta; Tammela, Outi; Simola, Kalle O.J.; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu

    2011-01-01

    Infantile cardiomyopathies are devastating fatal disorders of the neonatal period or the first year of life. Mitochondrial dysfunction is a common cause of this group of diseases, but the underlying gene defects have been characterized in only a minority of cases, because tissue specificity of the manifestation hampers functional cloning and the heterogeneity of causative factors hinders collection of informative family materials. We sequenced the exome of a patient who died at the age of 10 months of hypertrophic mitochondrial cardiomyopathy with combined cardiac respiratory chain complex I and IV deficiency. Rigorous data analysis allowed us to identify a homozygous missense mutation in AARS2, which we showed to encode the mitochondrial alanyl-tRNA synthetase (mtAlaRS). Two siblings from another family, both of whom died perinatally of hypertrophic cardiomyopathy, had the same mutation, compound heterozygous with another missense mutation. Protein structure modeling of mtAlaRS suggested that one of the mutations affected a unique tRNA recognition site in the editing domain, leading to incorrect tRNA aminoacylation, whereas the second mutation severely disturbed the catalytic function, preventing tRNA aminoacylation. We show here that mutations in AARS2 cause perinatal or infantile cardiomyopathy with near-total combined mitochondrial respiratory chain deficiency in the heart. Our results indicate that exome sequencing is a powerful tool for identifying mutations in single patients and allows recognition of the genetic background in single-gene disorders of variable clinical manifestation and tissue-specific disease. Furthermore, we show that mitochondrial disorders extend to prenatal life and are an important cause of early infantile cardiac failure. PMID:21549344

  13. Endemic characteristics of infantile visceral leishmaniasis in the People’s Republic of China

    PubMed Central

    2013-01-01

    Background Visceral leishmaniasis (VL) was once a severe parasitic disease in China. Thanks to the great efforts of integrated control, VL was eliminated in most epidemic areas, except for certain western provinces (autonomous region) at the end of 1950s. From then on, VL gained less attention and has seemed to spread, especially in the last 15 years. Infants are the most important population threatened by VL. However, there have been few studies on the endemic characteristics of infantile VL in China. Methods Infantile VL cases were collected from the online National Infectious Diseases Reporting System (NIDRS). Statistical description and inference was used to reveal the endemic characteristics in gender, age group, time and regionalism. Spatial analysis was carried out to explore the high risk area for infantile VL in China. Results A total of 1093 infantile VL cases were reported from 2006 to 2012. There was no statistically significant difference in gender over time. The minimum, maximum and mean age of these cases was 1.1, 35.9 and 13.8 months, respectively. Among them 86.92% were under 2 years of age, and there was a statistically significant difference among age groups over time. An incidence peak appeared in 2008-2009, most cases were distributed in the months September to December, and there was a tail-raising effect in the coming two months of the next year. More than 98% of cases were reported in Xinjiang Uygur Autonomous Region, Gansu Province and Sichuan Province, accounting for 61.02%, 32.75% and 4.57%, respectively. A total of 56 counties reported infantile VL cases, with the cumulative incidence ranging from 0.02 to 24.57%. There were two main zones of high endemicity for infantile VL in China. The monthly incidence clearly coincides with the number of towns where infantile VL cases were reported. Three fatalities were reported during the study period, the case fatality rate was 2.75‰. Conclusions The endemic situation of infantile VL is

  14. Working with Families Living with Autism: Potential Contributions of Marriage and Family Therapists

    ERIC Educational Resources Information Center

    Neely, Jason; Amatea, Ellen S.; Echevarria-Doan, Silvia; Tannen, Tina

    2012-01-01

    This article introduces marriage and family therapists (MFT) to some of the common issues faced by families that have a child with autism spectrum disorder (ASD). First, autism is defined and common myths surrounding it are discussed. Next, relational challenges are presented that families report experiencing during early childhood through the…

  15. School-Based Social Skills Training for Preschool-Age Children with Autism Spectrum Disorder

    ERIC Educational Resources Information Center

    Radley, Keith C.; Hanglein, Jeanine; Arak, Marisa

    2016-01-01

    Individuals with autism spectrum disorder display impairments in social interactions and communication that appear at early ages and result in short- and long-term negative outcomes. As such, there is a need for effective social skills training programs for young children with autism spectrum disorder--particularly interventions capable of being…

  16. Did Janet Frame have high-functioning autism?

    PubMed

    Abrahamson, Sarah

    2007-10-12

    Janet Frame (1924-2004) was one of New Zealand's most well-known authors and unusual personalities. Her formal psychiatric diagnosis, however, has not been clear. Some have suggested that she was simply "different". This paper proposes that there is a name for her difference: high-functioning autism. The features of this condition apparent on analysis of her autobiographies are examined. Janet Frame was an interesting example of what may be achieved by those with strong autistic features. It is to be hoped that current and future generations of New Zealanders with autism spectrum disorders are recognised early and given appropriate advice.

  17. Assessment of Cognition and Language in the Early Diagnosis of Autism Spectrum Disorder: Usefulness of the Bayley Scales of Infant and Toddler Development, Third Edition

    ERIC Educational Resources Information Center

    Torras-Mañá, M.; Gómez-Morales, A.; González-Gimeno, I.; Fornieles-Deu, A.; Brun-Gasca, C.

    2016-01-01

    Background: The aim of this study was to test the usefulness of the Cognitive and Language scales Bayley-III in the early assessment of cognitive and language functions in the context of an autism spectrum disorder (ASD) diagnosis. This paper focuses on the application of the Bayley-III and studies the predictive value of the test result in…

  18. Amniotic fluid inflammatory cytokines: potential markers of immunologic dysfunction in autism spectrum disorders.

    PubMed

    Abdallah, Morsi W; Larsen, Nanna; Grove, Jakob; Nørgaard-Pedersen, Bent; Thorsen, Poul; Mortensen, Erik L; Hougaard, David M

    2013-09-01

    The aim of the study was to analyze cytokine profiles in amniotic fluid (AF) samples of children developing autism spectrum disorders (ASD) and controls, adjusting for maternal autoimmune disorders and maternal infections during pregnancy. AF samples of 331 ASD cases and 698 controls were analyzed for inflammatory cytokines using Luminex xMAP technology utilizing a historic birth cohort. Clinical data were retrieved from nationwide registers, and case-control differences in AF cytokine levels were assessed using chi-square tests, logistic and tobit regression models. Overall, individuals with ASD had significantly elevated AF levels of TNF-α and TNF-β compared to controls. Analyzing individuals diagnosed only with ICD-10 codes yielded significantly elevated levels of IL-4, IL-10, TNF-α and TNF-β in ASD patients. Restricting analysis to infantile autism cases showed significantly elevated levels of IL-4, TNF-α and TNF-β compared to controls with no psychiatric comorbidities. Elevated levels of IL-6 and IL-5 were found in individuals with other childhood psychiatric disorders (OCPD) when compared to controls with no psychiatric comorbidities. AF samples of individuals with ASD or OCPD showed differential cytokine profiles compared to frequency-matched controls. Further studies to examine the specificity of the reported cytokine profiles in ASD and OCPD are required.

  19. Infantile eczema at one month of age is associated with cord blood eosinophilia and subsequent development of atopic dermatitis and wheezing illness until two years of age.

    PubMed

    Matsumoto, Kenji; Shimanouchi, Yasuhiro; Kawakubo, Keiichi; Oishi, Naobumi; Wakiguchi, Hiroshi; Futamura, Kyoko; Saito, Hirohisa

    2005-01-01

    Physiological and pathological skin eruptions are commonly encountered in neonates in our clinical practice. However, the types of skin eruptions that are associated with the subsequent development of atopic dermatitis and the mechanisms of these associations remain uncertain. A total of 105 newborn babies with normal delivery were enrolled in this prospective cohort study. The cord blood eosinophil count was measured and the neonates were examined at 1 month of age and followed until 8 years of age. At 1 month of age, infantile eczema, seborrheic dermatitis, intertrigo and diaper dermatitis were diagnosed in a total of 29, 7, 14 and 24 neonates, respectively. No association was found among the prevalences of these eruptions. Neonates with infantile eczema had a significantly higher number and ratio of eosinophils in the cord blood (eosinophil count: 670.8 +/- 67.8 vs. 349.0 +/- 30.3/microl, p < 0.0001; eosinophil ratio: 5.12 +/- 0.53 vs. 2.61 +/- 0.22%, p < 0.0001, for the presence and the absence of infantile eczema, respectively). In contrast, no such tendency was found for any other skin eruptions. In neonates with infantile eczema at 1 month of age, the diagnosis of atopic dermatitis had been made significantly earlier and the prevalence of wheezing illness was significantly higher than in those without infantile eczema until 2 years of age. Infantile eczema, but not other skin eruptions, precedes the development of atopic dermatitis and wheezing illness during early infancy, presumably because of the activation of eosinophils before birth. Copyright 2005 S. Karger AG, Basel.

  20. Effectiveness of Mentha piperita in the Treatment of Infantile Colic: A Crossover Study

    PubMed Central

    Alves, João Guilherme Bezerra; de Brito, Rita de Cássia Coelho Moraes; Cavalcanti, Telma Samila

    2012-01-01

    Background. Infantile colic is a distressing and common condition for which there is no proven standard treatment. Objective. To compare the efficacy of Mentha piperita with simethicone in treatment for infantile colic. Methods. A double-blind crossover study was performed with 30 infants attending IMIP, Recife, Brazil. They were randomized to use Mentha piperita or simethicone in the treatment of infantile colic during 7 days with each drug. Primary outcomes were mother_s opinion about responses to the treatment, number of daily episodes of colic, and time spent crying, measured by a chronometer. Mann-Whitney and chi-square tests were used to compare the results. This study was previously approved by the Ethical Committee in Research at IMIP. Results. At baseline daily episodes of infantile colic was 3.9 (±1.1) and the mean crying time per day was 192 minutes (±51.6). At the end of the study daily episodes of colic fell to 1.6 (±0.6) and the crying duration decreased to 111 (±28) minutes. All mothers reported decrease of frequency and duration of the episodes of infantile colic and there were no differences between responses to Mentha piperita and simethicone. Conclusions. These findings suggest that Mentha piperita may be used to help control infantile colic. However, these results must be repeated by others studies. PMID:22844342

  1. Maternal Early Life Factors Associated with Hormone Levels and the Risk of Having a Child with an Autism Spectrum Disorder in the Nurses Health Study II

    ERIC Educational Resources Information Center

    Lyall, Kristen; Pauls, David L.; Santangelo, Susan; Spiegelman, Donna; Ascherio, Alberto

    2011-01-01

    It is not known whether reproductive factors early in the mother's life influence risk of autism spectrum disorders (ASD). We assessed maternal age at menarche, menstrual cycle characteristics during adolescence, oral contraceptive use prior to first birth, body shape, and body mass index (BMI) in association with ASD using binomial regression in…

  2. Deep brain stimulation for severe autism: from pathophysiology to procedure.

    PubMed

    Sinha, Saurabh; McGovern, Robert A; Sheth, Sameer A

    2015-06-01

    Autism is a heterogeneous neurodevelopmental disorder characterized by early-onset impairment in social interaction and communication and by repetitive, restricted behaviors and interests. Because the degree of impairment may vary, a spectrum of clinical manifestations exists. Severe autism is characterized by complete lack of language development and potentially life-threatening self-injurious behavior, the latter of which may be refractory to medical therapy and devastating for affected individuals and their caretakers. New treatment strategies are therefore needed. Here, the authors propose deep brain stimulation (DBS) of the basolateral nucleus of the amygdala (BLA) as a therapeutic intervention to treat severe autism. The authors review recent developments in the understanding of the pathophysiology of autism. Specifically, they describe the genetic and environmental alterations that affect neurodevelopment. The authors also highlight the resultant microstructural, macrostructural, and functional abnormalities that emerge during brain development, which create a pattern of dysfunctional neural networks involved in socioemotional processing. They then discuss how these findings implicate the BLA as a key node in the pathophysiology of autism and review a reported case of BLA DBS for treatment of severe autism. Much progress has been made in recent years in understanding the pathophysiology of autism. The BLA represents a logical neurosurgical target for treating severe autism. Further study is needed that considers mechanistic and operative challenges.

  3. Cost-Effectiveness Analysis Comparing Pre-Diagnosis Autism Spectrum Disorder (ASD)-Targeted Intervention with Ontario's Autism Intervention Program

    ERIC Educational Resources Information Center

    Penner, Melanie; Rayar, Meera; Bashir, Naazish; Roberts, S. Wendy; Hancock-Howard, Rebecca L.; Coyte, Peter C.

    2015-01-01

    Novel management strategies for autism spectrum disorder (ASD) propose providing interventions before diagnosis. We performed a cost-effectiveness analysis comparing the costs and dependency-free life years (DFLYs) generated by pre-diagnosis intensive Early Start Denver Model (ESDM-I); pre-diagnosis parent-delivered ESDM (ESDM-PD); and the Ontario…

  4. Supporting Parents to Help Toddlers with Autism Risk Make Social Connections

    ERIC Educational Resources Information Center

    Schertz, Hannah H.; Horn, Kathryn; Lee, Martha; Mitchell, Stacia

    2017-01-01

    The purpose of this article is to help early interventionists who work with families of toddlers showing early signs of autism think through the "what" and the "how" of early intervention for toddlers with social communication difficulties, even though the child has not yet been diagnosed. Questions include the following: (1)…

  5. Elevated Maternal C-Reactive Protein and Autism in a National Birth Cohort

    PubMed Central

    Brown, Alan S.; Sourander, Andre; Hinkka-Yli-Salomäki, Susanna; McKeague, Ian W.; Sundvall, Jouko; Surcel, Helja-Marja

    2012-01-01

    Autism is a complex neuropsychiatric syndrome with a largely unknown etiology. Inflammation during pregnancy may represent a common pathway by which infections and other insults increase risk for the disorder. Hence, we investigated the association between early gestational C-reactive protein (CRP), an established inflammatory biomarker, prospectively assayed in maternal sera, and childhood autism in a large national birth cohort with an extensive serum biobank. Other strengths of the cohort included nearly complete ascertainment of pregnancies in Finland (N=1.2 million) over the study period and national psychiatric registries consisting of virtually all treated autism cases in the population. Increasing maternal CRP levels, classified as a continuous variable, were significantly associated with autism in offspring. For maternal CRP levels in the highest quintile, compared to the lowest quintile, there was a significant, 43% elevated risk. This finding suggests that maternal inflammation may play a significant role in autism, with possible implications for identifying preventive strategies and pathogenic mechanisms in autism and other neurodevelopmental disorders. PMID:23337946

  6. Recurrent Somatic PDGFRB Mutations in Sporadic Infantile/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas.

    PubMed

    Agaimy, Abbas; Bieg, Matthias; Michal, Michael; Geddert, Helene; Märkl, Bruno; Seitz, Jan; Moskalev, Evgeny A; Schlesner, Matthias; Metzler, Markus; Hartmann, Arndt; Wiemann, Stefan; Michal, Michal; Mentzel, Thomas; Haller, Florian

    2017-02-01

    Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of perivascular tumors in the sense of a morphologic spectrum of perivascular myoid cell neoplasms. Although activating germline PDGFRB mutations have recently been linked to familial infantile MF, the molecular pathogenesis of sporadic infantile and adult solitary MF remained unclear. In this study, we analyzed 25 solitary MFs without evidence of familial disease (9 infantile and 16 adult MFs) to address the question whether somatic PDGFRB mutations might be responsible for the sporadic form of the disease. Given the presumed histogenetic link of MF to myopericytoma and angioleiomyoma, we additionally analyzed a control group of 6 myopericytomas and 9 angioleiomyomas for PDGFRB mutations. We detected PDGFRB mutations in 6/8 (75%) analyzable infantile and in 11/16 (69%) adult MFs but in none of the angioleiomyomas or myopericytomas. In 2 infantile MFs, additional sequencing of the germline confirmed the somatic nature of PDGFRB mutations. To our knowledge, this is the first study reporting apparently somatic recurrent PDGFRB mutations as molecular driver events in the majority of sporadic infantile and adult solitary MFs. Our results suggest molecular distinctness of MF as compared with angioleiomyoma/myopericytoma. Investigation of more cases including those with atypical and worrisome features, as well as other mimickers in the heterogenous morphologic spectrum of MF, is mandatory for validating the potential diagnostic value of PDGFRB mutation testing as a possible

  7. Autism detection in early childhood (ADEC): reliability and validity data for a Level 2 screening tool for autistic disorder.

    PubMed

    Nah, Yong-Hwee; Young, Robyn L; Brewer, Neil; Berlingeri, Genna

    2014-03-01

    The Autism Detection in Early Childhood (ADEC; Young, 2007) was developed as a Level 2 clinician-administered autistic disorder (AD) screening tool that was time-efficient, suitable for children under 3 years, easy to administer, and suitable for persons with minimal training and experience with AD. A best estimate clinical Diagnostic and Statistical Manual of Mental Disorders (4th ed., text rev.; DSM-IV-TR; American Psychiatric Association, 2000) diagnosis of AD was made for 70 children using all available information and assessment results, except for the ADEC data. A screening study compared these children on the ADEC with 57 children with other developmental disorders and 64 typically developing children. Results indicated high internal consistency (α = .91). Interrater reliability and test-retest reliability of the ADEC were also adequate. ADEC scores reliably discriminated different diagnostic groups after controlling for nonverbal IQ and Vineland Adaptive Behavior Composite scores. Construct validity (using exploratory factor analysis) and concurrent validity using performance on the Autism Diagnostic Observation Schedule (Lord et al., 2000), the Autism Diagnostic Interview-Revised (Le Couteur, Lord, & Rutter, 2003), and DSM-IV-TR criteria were also demonstrated. Signal detection analysis identified the optimal ADEC cutoff score, with the ADEC identifying all children who had an AD (N = 70, sensitivity = 1.0) but overincluding children with other disabilities (N = 13, specificity ranging from .74 to .90). Together, the reliability and validity data indicate that the ADEC has potential to be established as a suitable and efficient screening tool for infants with AD. 2014 APA

  8. Autism Spectrum Disorder in the DSM-5: Diagnostic Sensitivity and Specificity in Early Childhood.

    PubMed

    Christiansz, Jessica A; Gray, Kylie M; Taffe, John; Tonge, Bruce J

    2016-06-01

    Changes to the DSM-5 Autism Spectrum Disorder (ASD) criteria raised concerns among parents and practitioners that the criteria may exclude some children with Pervasive Developmental Disorder (PDD). Few studies have examined DSM-5 sensitivity and specificity in children less than 5 years of age. This study evaluated 185 children aged 20-55 months with DSM-IV PDD or developmental delay. Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) data was assigned to DSM-5 subdomains. Children displaying the required symptomatology were classified with DSM-5 ASD. DSM-IV clinical diagnoses were compared to DSM-5 classifications. Using combined ADI-R/ADOS information, sensitivity was .84 and specificity was .54. Comorbid behaviour and emotional problems were significantly lower in children with PDD that did not meet DSM-5 criteria.

  9. Autism and the mirror neuron system: insights from learning and teaching

    PubMed Central

    Vivanti, Giacomo; Rogers, Sally J.

    2014-01-01

    Individuals with autism have difficulties in social learning domains which typically involve mirror neuron system (MNS) activation. However, the precise role of the MNS in the development of autism and its relevance to treatment remain unclear. In this paper, we argue that three distinct aspects of social learning are critical for advancing knowledge in this area: (i) the mechanisms that allow for the implicit mapping of and learning from others' behaviour, (ii) the motivation to attend to and model conspecifics and (iii) the flexible and selective use of social learning. These factors are key targets of the Early Start Denver Model, an autism treatment approach which emphasizes social imitation, dyadic engagement, verbal and non-verbal communication and affect sharing. Analysis of the developmental processes and treatment-related changes in these different aspects of social learning in autism can shed light on the nature of the neuropsychological mechanisms underlying social learning and positive treatment outcomes in autism. This knowledge in turn may assist in developing more successful pedagogic approaches to autism spectrum disorder. Thus, intervention research can inform the debate on relations among neuropsychology of social learning, the role of the MNS, and educational practice in autism. PMID:24778379

  10. Autism and the mirror neuron system: insights from learning and teaching.

    PubMed

    Vivanti, Giacomo; Rogers, Sally J

    2014-01-01

    Individuals with autism have difficulties in social learning domains which typically involve mirror neuron system (MNS) activation. However, the precise role of the MNS in the development of autism and its relevance to treatment remain unclear. In this paper, we argue that three distinct aspects of social learning are critical for advancing knowledge in this area: (i) the mechanisms that allow for the implicit mapping of and learning from others' behaviour, (ii) the motivation to attend to and model conspecifics and (iii) the flexible and selective use of social learning. These factors are key targets of the Early Start Denver Model, an autism treatment approach which emphasizes social imitation, dyadic engagement, verbal and non-verbal communication and affect sharing. Analysis of the developmental processes and treatment-related changes in these different aspects of social learning in autism can shed light on the nature of the neuropsychological mechanisms underlying social learning and positive treatment outcomes in autism. This knowledge in turn may assist in developing more successful pedagogic approaches to autism spectrum disorder. Thus, intervention research can inform the debate on relations among neuropsychology of social learning, the role of the MNS, and educational practice in autism.

  11. Knowledge and Perception Regarding Autism among Primary School Teachers: A Cross-sectional Survey from Pakistan, South Asia.

    PubMed

    Ayub, Adil; Naeem, Buria; Ahmed, Wajahat Nazir; Srichand, Suraksha; Aziz, Komal; Abro, Brooj; Najam, Sehrish; Murtaza, Duraiz; Janjua, Ali Ahmed; Ali, Sara; Jehan, Imtiaz

    2017-01-01

    Early detection and intervention seem to improve development in autistic children, and teachers form an important part of their early social environment. The objective of this study was to assess baseline knowledge and misconceptions regarding autism among school teachers and evaluate factors influencing their knowledge. This is a cross-sectional survey enrolling primary school teachers using a self-administered questionnaire. Seventy-three teachers (mean age of 34 years, 66% females) responded. Gaps in awareness and knowledge were found. About 52 (71.2%) teachers identified themselves as having some knowledge about autism, with 23 (44.2%) among this group understanding autism as a neurological/mental disorder. The majority (73.1%) believe that special education is a helpful intervention. The only significant factor that influenced knowledge among teachers was attendance of behavioral classes ( P = 0.01). Results suggest that teachers have an inadequate understanding of autism due to several misconceptions. This calls for increased education of teachers with regard to autism and other childhood disorders.

  12. Using the brief observation of social communication change (BOSCC) to measure autism-specific development.

    PubMed

    Kitzerow, Janina; Teufel, Karoline; Wilker, Christian; Freitag, Christine M

    2016-09-01

    To date no reliable and objective, change sensitive instrument for autistic symptoms is available. The brief observation of social communication change (BOSCC) was specifically developed to measure change of core autistic symptoms, for example, for use as outcome measure in early intervention trials. This study investigated quality criteria of a preliminary research version of the BOSCC in N = 21 children with autism spectrum disorder (ASD) who had participated for 1 year in the Frankfurt early intervention program (FFIP). BOSCC rating was done on play based ADOS video scenes. Inter-rater agreement on the BOSCC average total was very high. The BOSCC showed a significant decrease of autistic symptoms after 1 year with a medium effect size. Symptom specific improvements were captured by the social communication subscale and most single items. The BOSCC showed comparable change sensitivity to other autism specific instruments. Future studies should focus on the finalized BOSCC version, and replicate findings in a larger sample. Autism Res 2016, 9: 940-950. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. © 2015 International Society for Autism Research, Wiley Periodicals, Inc.

  13. Comparison of the Pervasive Developmental Disorders Screening Test and Modified Checklist for Autism in Toddlers: Which Is the Better Predictor of Autism in Toddlers?

    ERIC Educational Resources Information Center

    Fessenden, Vanessa Marie

    2013-01-01

    Early intervention for children with autism spectrum disorders (ASD) has significant impact on children and families. Early intervention optimizes long-term diagnosis for children with ASD. Unfortunately, many children with ASD are not diagnosed until after age three and often receive services from a local school district rather than through early…

  14. Transition from early intervention program to primary school in children with autism spectrum disorder

    PubMed Central

    Eapen, Valsamma; Grove, Rachel; Aylward, Elizabeth; Joosten, Annette V; Miller, Scott I; Van Der Watt, Gerdamari; Fordyce, Kathryn; Dissanayake, Cheryl; Maya, Jacqueline; Tucker, Madonna; DeBlasio, Antonia

    2017-01-01

    AIM To evaluate the characteristics that are associated with successful transition to school outcomes in preschool aged children with autism. METHODS Twenty-one participants transitioning from an early intervention program were assessed at two time points; at the end of their preschool placement and approximately 5 mo later following their transition to school. Child characteristics were assessed using the Mullen Scales of Early Learning, Vineland Adaptive Behaviour Scales, Social Communication Questionnaire and the Repetitive Behaviour Scale. Transition outcomes were assessed using Teacher Rating Scale of School Adjustment and the Social Skills Improvement System Rating Scales to provide an understanding of each child’s school adjustment. The relationship between child characteristics and school outcomes was evaluated. RESULTS Cognitive ability and adaptive behaviour were shown to be associated with successful transition to school outcomes including participation in the classroom and being comfortable with the classroom teacher. These factors were also associated with social skills in the classroom including assertiveness and engagement. CONCLUSION Supporting children on the spectrum in the domains of adaptive behaviour and cognitive ability, including language skills, is important for a successful transition to school. Providing the appropriate support within structured transition programs will assist children on the spectrum with this important transition, allowing them to maximise their learning and behavioural potential. PMID:29259892

  15. Transition from early intervention program to primary school in children with autism spectrum disorder.

    PubMed

    Eapen, Valsamma; Grove, Rachel; Aylward, Elizabeth; Joosten, Annette V; Miller, Scott I; Van Der Watt, Gerdamari; Fordyce, Kathryn; Dissanayake, Cheryl; Maya, Jacqueline; Tucker, Madonna; DeBlasio, Antonia

    2017-11-08

    To evaluate the characteristics that are associated with successful transition to school outcomes in preschool aged children with autism. Twenty-one participants transitioning from an early intervention program were assessed at two time points; at the end of their preschool placement and approximately 5 mo later following their transition to school. Child characteristics were assessed using the Mullen Scales of Early Learning, Vineland Adaptive Behaviour Scales, Social Communication Questionnaire and the Repetitive Behaviour Scale. Transition outcomes were assessed using Teacher Rating Scale of School Adjustment and the Social Skills Improvement System Rating Scales to provide an understanding of each child's school adjustment. The relationship between child characteristics and school outcomes was evaluated. Cognitive ability and adaptive behaviour were shown to be associated with successful transition to school outcomes including participation in the classroom and being comfortable with the classroom teacher. These factors were also associated with social skills in the classroom including assertiveness and engagement. Supporting children on the spectrum in the domains of adaptive behaviour and cognitive ability, including language skills, is important for a successful transition to school. Providing the appropriate support within structured transition programs will assist children on the spectrum with this important transition, allowing them to maximise their learning and behavioural potential.

  16. Detail and Gestalt Focus in Individuals with Optimal Outcomes from Autism Spectrum Disorders

    ERIC Educational Resources Information Center

    Fitch, Allison; Fein, Deborah A.; Eigsti, Inge-Marie

    2015-01-01

    Individuals with high-functioning autism (HFA) have a cognitive style that privileges local over global or gestalt details. While not a core symptom of autism, individuals with HFA seem to reliably show this bias. Our lab has been studying a sample of children who have overcome their early ASD diagnoses, showing "optimal outcomes" (OO).…

  17. Misdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents.

    PubMed

    Aggarwal, Shilpa; Angus, Beth

    2015-04-01

    The diagnosis of children with autism spectrum disorders (ASDs) is sometimes delayed until adolescence. This study tries to identify the symptoms in clients that initiated a referral to an autism team of an early intervention service providing psychiatric care for young people between the ages of 15 and 25 and who subsequently receive a new diagnosis of autism. Thirty-one ASD assessments were carried out during a period of 3 years in an early intervention service in Australia. An attempt to identify the common presenting symptoms and trends in the referrals for ASD assessment within the service was made. Most common presentation of adolescents getting referred for ASD assessment was with depressive symptoms followed by mixed anxiety and depression and primary psychotic symptoms. There was a significant gender difference, with a higher number of males getting referred for ASD assessment. ASDs can go undetected during childhood and these clients can sometimes present during adolescence to mental health services for a psychiatric comorbidity. Regular training opportunities for clinicians dealing with them could improve the chances of ASDs being picked up during their episode of care at an early intervention service, thus optimizing their management. © The Royal Australian and New Zealand College of Psychiatrists 2015.

  18. Locus ceruleus neurons in people with autism contain no histochemically-detectable mercury.

    PubMed

    Pamphlett, Roger; Kum Jew, Stephen

    2016-02-01

    Exposure to environmental mercury has been proposed to play a part in autism. Mercury is selectively taken up by the human locus ceruleus, a region of the brain that has been implicated in autism. We therefore looked for the presence of mercury in the locus ceruleus of people who had autism, using the histochemical technique of autometallography which can detect nanogram amounts of mercury in tissues. In addition, we sought evidence of damage to locus ceruleus neurons in autism by immunostaining for hyperphosphorylated tau. No mercury was found in any neurons of the locus ceruleus of 6 individuals with autism (5 male, 1 female, age range 16-48 years). Mercury was present in locus ceruleus neurons in 7 of 11 (64%) age-matched control individuals who did not have autism, which is significantly more than in individuals with autism. No increase in numbers of locus ceruleus neurons containing hyperphosphorylated tau was detected in people with autism. In conclusion, most people with autism have not been exposed early in life to quantities of mercury large enough to be found later in adult locus ceruleus neurons. Human locus ceruleus neurons are sensitive indicators of mercury exposure, and mercury appears to remain in these neurons indefinitely, so these findings do not support the hypothesis that mercury neurotoxicity plays a role in autism.

  19. Autism and Equine-Assisted Interventions: A Systematic Mapping Review.

    PubMed

    McDaniel Peters, B Caitlin; Wood, Wendy

    2017-10-01

    This systematic mapping review mapped current knowledge of equine-assisted interventions for people with autism to help guide future practice and research. Thirty-three studies including children and adolescents with autism, 3 of which confirmed diagnoses, were reviewed. Five types of equine-assisted activities were identified across 25 studies, with reported improvements in behavior, social interaction, and communication. Four types of equine-assisted therapies were identified across 8 studies, with reported improvements in motor control and self-care. Different approaches to therapeutic riding and hippotherapy, the most studied interventions, were evident. While this literature reflected early scientific development, it offered broad proof of concept that equine-assisted interventions can benefit children and adolescents with autism. Promising outcomes support continued investigation focused on standardization, appropriateness, and efficacy.

  20. Preconceptional and prenatal supplementary folic acid and multivitamin intake and autism spectrum disorders.

    PubMed

    Virk, Jasveer; Liew, Zeyan; Olsen, Jørn; Nohr, Ellen A; Catov, Janet M; Ritz, Beate

    2016-08-01

    To evaluate whether early folic acid supplementation during pregnancy prevents diagnosis of autism spectrum disorders in offspring. Information on autism spectrum disorder diagnosis was obtained from the National Hospital Register and the Central Psychiatric Register. We estimated risk ratios for autism spectrum disorders for children whose mothers took folate or multivitamin supplements from 4 weeks prior from the last menstrual period through to 8 weeks after the last menstrual period (-4 to 8 weeks) by three 4-week periods. We did not find an association between early folate or multivitamin intake for autism spectrum disorder (folic acid-adjusted risk ratio: 1.06, 95% confidence interval: 0.82-1.36; multivitamin-adjusted risk ratio: 1.00, 95% confidence interval: 0.82-1.22), autistic disorder (folic acid-adjusted risk ratio: 1.18, 95% confidence interval: 0.76-1.84; multivitamin-adjusted risk ratio: 1.22, 95% confidence interval: 0.87-1.69), Asperger's syndrome (folic acid-adjusted risk ratio: 0.85, 95% confidence interval: 0.46-1.53; multivitamin-adjusted risk ratio: 0.95, 95% confidence interval: 0.62-1.46), or pervasive developmental disorder-not otherwise specified (folic acid-adjusted risk ratio: 1.07, 95% confidence interval: 0.75-1.54; multivitamin: adjusted risk ratio: 0.87, 95% confidence interval: 0.65-1.17) compared with women reporting no supplement use in the same period. We did not find any evidence to corroborate previous reports of a reduced risk for autism spectrum disorders in offspring of women using folic acid supplements in early pregnancy. © The Author(s) 2015.