1. Beversdorf DQ. {{Phenotyping, Etiological Factors, and Biomarkers: Toward Precision Medicine in Autism Spectrum Disorders}}. {J Dev Behav Pediatr};2016 (Oct);37(8):659-673.
Despite the progress made in understanding the biology of autism spectrum disorder (ASD), effective biological interventions for the core symptoms remain elusive. Because of the etiological heterogeneity of ASD, identification of a « one-size-fits-all » treatment approach will likely continue to be challenging. A meeting was convened at the University of Missouri and the Thompson Center to discuss strategies for stratifying patients with ASD for the purpose of moving toward precision medicine. The « white paper » presented here articulates the challenges involved and provides suggestions for future solutions.
Lien vers le texte intégral (Open Access ou abonnement)
2. DeWitt JJ, Grepo N, Wilkinson B, Evgrafov OV, Knowles JA, Campbell DB. {{Impact of the Autism-Associated Long Noncoding RNA MSNP1AS on Neuronal Architecture and Gene Expression in Human Neural Progenitor Cells}}. {Genes (Basel)};2016;7(10)
We previously identified the long noncoding RNA (lncRNA) MSNP1AS (moesin pseudogene 1, antisense) as a functional element revealed by genome wide significant association with autism spectrum disorder (ASD). MSNP1AS expression was increased in the postmortem cerebral cortex of individuals with ASD and particularly in individuals with the ASD-associated genetic markers on chromosome 5p14.1. Here, we mimicked the overexpression of MSNP1AS observed in postmortem ASD cerebral cortex in human neural progenitor cell lines to determine the impact on neurite complexity and gene expression. ReNcell CX and SK-N-SH were transfected with an overexpression vector containing full-length MSNP1AS. Neuronal complexity was determined by the number and length of neuronal processes. Gene expression was determined by strand-specific RNA sequencing. MSNP1AS overexpression decreased neurite number and neurite length in both human neural progenitor cell lines. RNA sequencing revealed changes in gene expression in proteins involved in two biological processes: protein synthesis and chromatin remodeling. These data indicate that overexpression of the ASD-associated lncRNA MSNP1AS alters the number and length of neuronal processes. The mechanisms by which MSNP1AS overexpression impacts neuronal differentiation may involve protein synthesis and chromatin structure. These same biological processes are also implicated by rare mutations associated with ASD, suggesting convergent mechanisms.
Lien vers le texte intégral (Open Access ou abonnement)
3. Hahn LJ, Brady NC, Fleming KK, Warren SF. {{Joint Engagement and Early Language in Young Children With Fragile X Syndrome}}. {J Speech Lang Hear Res};2016 (Sep 28):1-12.
Purpose: In this study, we examine joint engagement (JE) in young children with fragile X syndrome (FXS) and its relationship to language abilities and autism spectrum disorder symptomatology at 24 to 36 months (toddler period) and 59 to 68 months (child period). Method: Participants were 28 children with FXS (24 boys, four girls) and their mothers. Videotaped home observations were conducted during the toddler period and coded for JE. Language abilities were measured at both ages from a developmental assessment, a functional measure, and from a language sample. The Childhood Autism Rating Scale (Schopler, Reichler, & Renner, 1988) was completed at both ages. Results: Children with FXS spent more time in supported JE than in coordinated JE. Using a weighted JE variable, we found that children with FXS who had higher weighted JE scores also had more advanced expressive language skills at both the toddler and child periods. Weighted JE was negatively related to autism symptomatology in the toddler period. Conclusion: This study provides evidence that children with FXS who use more JE also have more advanced expressive language skills in early development. Therefore, existing early interventions that target JE behaviors may be effective for promoting language, social communication, and social interaction in this population.
Lien vers le texte intégral (Open Access ou abonnement)
4. Hategan A, Bourgeois JA, Goldberg J. {{Aging with autism spectrum disorder: an emerging public health problem}}. {Int Psychogeriatr};2016 (Sep 27):1-3.
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.
Lien vers le texte intégral (Open Access ou abonnement)
5. Healy S, Haegele JA, Grenier M, Garcia JM. {{Physical Activity, Screen-Time Behavior, and Obesity Among 13-Year Olds in Ireland with and without Autism Spectrum Disorder}}. {J Autism Dev Disord};2016 (Sep 26)
The primary purposes of this study were to compare (a) physical activity participation, screen-time habits, obesity, and (b) reported reasons for lack of participation in sport, between a nationally representative sample of Irish children with and without autism spectrum disorder (ASD). Participation in moderate to vigorous activity, light activity, and sports was significantly lower among the group with ASD. On examination of screen time variables, no significant differences were seen between groups. However, time spent watching TV was higher among children with ASD. Overweight or obese status was more prevalent among the group with ASD (34.4 vs. 24.7 %). The findings are discussed in relation to international statistics on youth physical activity, screen-time, and weight status, and recommendations are provided for future research.
Lien vers le texte intégral (Open Access ou abonnement)
6. Hulsmann S, Mesuret G, Dannenberg J, Arnoldt M, Niebert M. {{GlyT2-Dependent Preservation of MECP2-Expression in Inhibitory Neurons Improves Early Respiratory Symptoms but Does Not Rescue Survival in a Mouse Model of Rett Syndrome}}. {Front Physiol};2016;7:385.
Mutations in methyl-CpG-binding protein 2 (MECP2) gene have been shown to manifest in a neurodevelopmental disorder that is called Rett syndrome. A typical problem that occurs during development is a disturbance of breathing. To address the role of inhibitory neurons, we generated a mouse line that restores MECP2 in inhibitory neurons in the brainstem by crossbreeding a mouse line that expresses the Cre-recombinase (Cre) in inhibitory neurons under the control of the glycine transporter 2 (GlyT2, slc6a5) promotor (GlyT2-Cre) with a mouse line that has a floxed-stop mutation of the Mecp2 gene (Mecp2 (stop/y)). Unrestrained whole-body-plethysmography at postnatal day P60 revealed a low respiratory rate and prolonged respiratory pauses in Mecp2 (stop/y) mice. In contrast, GlyT2-Cre positive Mecp2 (stop/y) mice (Cre(+) ; Mecp2 (stop/y)) showed greatly improved respiration and were indistinguishable from wild type littermates. These data support the concept that alterations in inhibitory neurons are important for the development of the respiratory phenotype in Rett syndrome.
Lien vers le texte intégral (Open Access ou abonnement)
7. Ligsay A, Hagerman RJ. {{Review of targeted treatments in fragile X syndrome}}. {Intractable Rare Dis Res};2016 (Aug);5(3):158-167.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability, and is the leading single-gene cause of autism spectrum disorders. It is due to a loss of the fragile X mental retardation protein, which leads to molecular, behavioral, and cognitive deficits in these patients. Improvements in our understanding of its pathophysiology have led to the development of numerous targeted treatments in FXS as highlighted by metabotropic glutamate receptor antagonists and gamma-Aminobutyric acid receptor modulators. This review will summarize relevant pre-clinical data and results from clinical trials in human subjects with FXS. It will also highlight upcoming studies and future directions for clinical trials as well.
Lien vers le texte intégral (Open Access ou abonnement)
8. Lo YC, Chen YJ, Hsu YC, Tseng WI, Gau SS. {{Reduced tract integrity of the model for social communication is a neural substrate of social communication deficits in autism spectrum disorder}}. {J Child Psychol Psychiatry};2016 (Sep 28)
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with social communication deficits as one of the core symptoms. Recently, a five-level model for the social communication has been proposed in which white matter tracts corresponding to each level of the model are identified. Given that the model for social communication subserves social language functions, we hypothesized that the tract integrity of the model for social communication may be reduced in ASD, and the reduction may be related to social communication deficits. METHODS: Sixty-two right-handed boys with ASD and 55 typically developing (TD) boys received clinical evaluations, intelligence tests, the Social Communication Questionnaire (SCQ), and MRI scans. Generalized fractional anisotropy (GFA) was measured by diffusion spectrum imaging to indicate the microstructural integrity of the tracts for each level of the social communication model. Group difference in the tract integrity and its relationship with the SCQ subscales of social communication and social interaction were investigated. RESULTS: We found that the GFA values of the superior longitudinal fasciculus III (SLF III, level 1) and the frontal aslant tracts (FAT, level 2) were decreased in ASD compared to TD. Moreover, the GFA values of the SLF III and the FAT were associated with the social interaction subscale in ASD. CONCLUSIONS: The tract integrity of the model for social communication is reduced in ASD, and the reduction is associated with impaired social interaction. Our results support that reduced tract integrity of the model for social communication might be a neural substrate of social communication deficits in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
9. Lozano R, Azarang A, Wilaisakditipakorn T, Hagerman RJ. {{Fragile X syndrome: A review of clinical management}}. {Intractable Rare Dis Res};2016 (Aug);5(3):145-157.
The fragile X mental retardation 1 gene, which codes for the fragile X mental retardation 1 protein, usually has 5 to 40 CGG repeats in the 5′ untranslated promoter. The full mutation is the almost always the cause of fragile X syndrome (FXS). The prevalence of FXS is about 1 in 4,000 to 1 in 7,000 in the general population although the prevalence varies in different regions of the world. FXS is the most common inherited cause of intellectual disability and autism. The understanding of the neurobiology of FXS has led to many targeted treatments, but none have cured this disorder. The treatment of the medical problems and associated behaviors remain the most useful intervention for children with FXS. In this review, we focus on the non-pharmacological and pharmacological management of medical and behavioral problems associated with FXS as well as current recommendations for follow-up and surveillance.
Lien vers le texte intégral (Open Access ou abonnement)
10. Mor-Shaked H, Eiges R. {{Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells}}. {Genes (Basel)};2016;7(10)
Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a loss-of-function mutation by a CGG repeat expansion at the 5′ untranslated region of the X-linked fragile X mental retardation 1 (FMR1) gene. Expansion of the CGG repeats beyond 200 copies results in protein deficiency by leading to aberrant methylation of the FMR1 promoter and the switch from active to repressive histone modifications. Additionally, the CGGs become increasingly unstable, resulting in high degree of variation in expansion size between and within tissues of affected individuals. It is still unclear how the FMR1 protein (FMRP) deficiency leads to disease pathology in neurons. Nor do we know the mechanisms by which the CGG expansion results in aberrant DNA methylation, or becomes unstable in somatic cells of patients, at least in part due to the lack of appropriate animal or cellular models. This review summarizes the current contribution of pluripotent stem cells, mutant human embryonic stem cells, and patient-derived induced pluripotent stem cells to disease modeling of FXS for basic and applied research, including the development of new therapeutic approaches.
Lien vers le texte intégral (Open Access ou abonnement)
11. Oginsky MF, Cui N, Zhong W, Johnson CM, Jiang C. {{Hyperexcitability of Mesencephalic Trigeminal Neurons and Reorganization of Ion Channel Expression in a Rett Syndrome Model}}. {J Cell Physiol};2016 (Sep 27)
People with Rett syndrome (RTT) have defects in motor function also seen in Mecp2-null mice. Motor function depends on not only central motor commands but also sensory feedback that is vulnerable to changes in excitability of propriosensory neurons. Here we report evidence for hyperexcitability of mesencephalic trigeminal (Me5) neurons in Mecp2-null mice and a novel cellular mechanism for lowering its impact. In in vitro brain slices, the Me5 neurons in both Mecp2-/Y male and symptomatic Mecp2+/- female mice were overly excitable showing increased firing activity in comparison to their wild-type (WT) male and asymptomatic counterparts. In Mecp2-/Y males, Me5 neurons showed a reduced firing threshold. Consistently, the steady-state activation of voltage-gated Na+ currents (INa ) displayed a hyperpolarizing shift in the Mecp2-null neurons with no change in the INa density. This seems to be due to NaV1.1, SCN1B and SCN4B overexpression and NaV1.2 and SCN3B under-expression. In contrast to the hyperexcitability, the sag potential and postinhibitory rebound (PIR) were reduced in Mecp2-null mice. In voltage-clamp, the IH density was deficient by approximately 33%, and the steady-state half-activation had a depolarizing shift of approximately 10 mV in the Mecp2-null mice. Quantitative PCR analysis indicated that HCN2 was decreased, HCN1 was upregulated with no change in HCN4 in Mecp2-/Y mice compared to WT. Lastly, blocking IH reduced the firing rate much more in WT than in Mecp2-null neurons. These data suggest that the Mecp2 defect causes an increase in Me5 neuronal excitability likely attributable to alterations in INa , meanwhile IH is reduced likely altering neuronal excitability as well. J. Cell. Physiol. 9999: 1-14, 2016. (c) 2016 Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
12. Pace M, Dumortier L, Favre-Juvin A, Guinot M, Bricout VA. {{Heart rate variability during sleep in children with autism spectrum disorders}}. {Physiol Behav};2016 (Sep 28)
Lien vers le texte intégral (Open Access ou abonnement)
13. Panagiotakis GN, Armento M. {{Poster 474 A Male with Rett Syndrome: Broadening the Differential Diagnosis: A Case Report}}. {PM R};2016 (Sep);8(9S):S314.
Lien vers le texte intégral (Open Access ou abonnement)
14. Paquet A, Olliac B, Bouvard MP, Golse B, Vaivre-Douret L. {{The Semiology of Motor Disorders in Autism Spectrum Disorders as Highlighted from a Standardized Neuro-Psychomotor Assessment}}. {Front Psychol};2016;7:1292.
BACKGROUND: Altered motor performance has been described in Autism Spectrum Disorders (ASD) with disturbances in walking; posture, coordination, or arm movements, but some individuals with ASD show no impairment of motor skills. The neuro-developmental processes that underpin the performance of neuro-psychomotor functions have not been widely explored, nor is it clear whether there are neuro-psychomotor functions specifically affected in ASD. Our objective was to focus on the semiology of motor disorders among children with ASD using a neuro-developmental assessment tool. METHOD: Thirty-four children with ASD, with or without intellectual deficit (ID) were recruited in a child psychiatry department and Autism Resource Centers. Initial standard evaluations for diagnosis (psychiatric; psychological; psychomotor) were supplemented by a standardized assessment battery for neuro-developmental psychomotor functions (NP-MOT). RESULTS: The results of some NP-MOT tests differed between children with ASD with ID and those without. However, on the NP-MOT battery, neither of the two groups did well in the bi-manual and finger praxia tests (36 and 52% respectively failed). Manual and digital gnosopraxia showed some deficit (63 and 62% respectively failed). Postural deficits were found in tests for both static equilibrium (64%) and dynamic (52%). There were also difficulties in coordination between the upper and lower limbs in 58% of children. We found 75% failure in motor skills on the M-ABC test. Concerning muscular tone, significant laxity was observed in distal parts of the body (feet and hands), but hypertonia was observed in the proximal muscles of the lower limbs (reduced heel-ear angle). DISCUSSION: The results of manual and digital gnosopraxia tests point to a planning deficit in children with autism. A gesture programming deficit is also highlighted by the poor results in manual praxis, and by failures in the M-ABC tests despite prior training of the child. However, concerning global motor function, a significant difference was observed between children with and without ID. Our findings suggest a semiology of tone deregulation between proximal versus distal muscles, indeterminate tonic laterality, postural control deficit (proprioceptive), impairment of inter-hemispheric coordination (corpus callosum), and neurological soft signs such asdysdiadochokinesia, which leads us to hypothesize a general impairment of motor functions.
Lien vers le texte intégral (Open Access ou abonnement)
15. Sabapathy T, Vanderbilt DL, Zamora I, Augustyn M. {{Aggression in Autism Spectrum Disorder: Supporting the Entire Family}}. {J Dev Behav Pediatr};2016 (Oct);37(8):685-686.
CASE: Juanita is a 13-year-old non-verbal Latina girl with autism spectrum disorder, moderate intellectual disability, and a seizure disorder whose aggressive behaviors toward her parents have significantly worsened over the past few months.Juanita’s monolingual Spanish-speaking parents are here today for medication management at her primary care clinic. The parents report that Juanita pinches them, pulls their hair, and hits her head with her fists. Her aggression toward them is usually triggered by feelings of frustrations, leaving her parents feeling like they have to walk on eggshells around her and have led to differing parenting styles. Her father reports that he tries to avoid getting her upset and prefers to watch TV with her, whereas her mother takes on the day-to-day caretaking. Although he wants to take a more active role in parenting Juanita, when he tries, Juanita becomes more aggressive and reacts violently toward him.During the visit, Juanita keeps her eyes downcast, is withdrawn, and some strain is noted between her parents. While speaking to them, Juanita’s mother chimes in and reports that she considers herself the primary caregiver and the one who knows her daughter the best. She often dismisses Juanita’s father’s reporting, saying that « he doesn’t know what really is going on. » When Juanita is taken to the restroom by her mother, her father tearfully reports that he feels that it may be best for everyone that he leaves the family because of Juanita’s worsening aggression toward him and the toll it is taking on his marriage. How would you approach her management?
Lien vers le texte intégral (Open Access ou abonnement)
16. Salcedo-Arellano MJ, Lozano R, Tassone F, Hagerman RJ, Saldarriaga W. {{Alcohol use dependence in fragile X syndrome}}. {Intractable Rare Dis Res};2016 (Aug);5(3):207-213.
Alcohol use disorders (AUDs) have been reported in a limited number of individuals with cognitive impairment but rarely in those with fragile X syndrome (FXS). However, in Colombia, culturally, alcohol consumption is very common. Here, we report eight cases of patients with FXS who have frequent alcohol consumption in Ricaurte, Colombia. Some of these patients have also used tobacco and illegal substances, including cocaine, which use has not been previously reported in those with FXS. Alcohol and substance use dependence is associated with exacerbation of their behavioral problems, such as increased impulsivity and aggression, as well as of medical problems such as an increased frequency of seizures.
Lien vers le texte intégral (Open Access ou abonnement)
17. Schmidt M, Houtrow AJ. {{Poster 501 Comparing WeeFIM Outcomes in Children with Developmental Disabilities to Children without Developmental Disabilities}}. {PM R};2016 (Sep);8(9S):S323.
Lien vers le texte intégral (Open Access ou abonnement)
18. Servadio M, Melancia F, Manduca A, di Masi A, Schiavi S, Cartocci V, Pallottini V, Campolongo P, Ascenzi P, Trezza V. {{Targeting anandamide metabolism rescues core and associated autistic-like symptoms in rats prenatally exposed to valproic acid}}. {Transl Psychiatry};2016;6(9):e902.
Autism spectrum disorders (ASD) are characterized by altered sociability, compromised communication and stereotyped/repetitive behaviors, for which no specific treatments are currently available. Prenatal exposure to valproic acid (VPA) is a known, although still underestimated, environmental risk factor for ASD. Altered endocannabinoid activity has been observed in autistic patients, and endocannabinoids are known to modulate behavioral traits that are typically affected in ASD. On this basis, we tested the hypothesis that changes in the endocannabinoid tone contribute to the altered phenotype induced by prenatal VPA exposure in rats, with focus on behavioral features that resemble the core and associated symptoms of ASD. In the course of development, VPA-exposed rats showed early deficits in social communication and discrimination, compromised sociability and social play behavior, stereotypies and increased anxiety, thus providing preclinical proof of the long-lasting deleterious effects induced by prenatal VPA exposure. At the neurochemical level, VPA-exposed rats displayed altered phosphorylation of CB1 cannabinoid receptors in different brain areas, associated with changes in anandamide metabolism from infancy to adulthood. Interestingly, enhancing anandamide signaling through inhibition of its degradation rescued the behavioral deficits displayed by VPA-exposed rats at infancy, adolescence and adulthood. This study therefore shows that abnormalities in anandamide activity may underlie the deleterious impact of environmental risk factors on ASD-relevant behaviors and that the endocannabinoid system may represent a therapeutic target for the core and associated symptoms displayed by autistic patients.
Lien vers le texte intégral (Open Access ou abonnement)
19. Shah RS, Pavone L, Keen M. {{Poster 464 Finicky Eating with Autism Spectrum Disorder, an Explanation for Antalgic Gait: A Case Report}}. {PM R};2016 (Sep);8(9S):S311-S312.
Lien vers le texte intégral (Open Access ou abonnement)
20. Shyman E. {{The Reinforcement of Ableism: Normality, the Medical Model of Disability, and Humanism in Applied Behavior Analysis and ASD}}. {Intellect Dev Disabil};2016 (Oct);54(5):366-376.
The field of educating individuals with Autism Spectrum Disorder has ever been rife with controversy regarding issues ranging from etiology and causation to effective intervention and education options. One such basis for controversy has been between humanism, and humanistic philosophical concepts, and its fundamental differences with behaviorism, and behavioristic philosophical concepts. These differences have long been debated, and the belief that the two orientations are generally mutually exclusive has been largely maintained. Recently, however, there has been some resurgence of interest in reconciling some of the fundamental humanistic and behavioristic tenets. Most of these discussions, however, center on specific interventional methodologies as its basis without delving more deeply into the underlying philosophical issues. This article will explore some fundamental humanistic concepts that ought to be reconciled in order for behaviorism to be considered a humanistic practice. While the notion that the possibility of reconciliation is maintained, the central argument maintains that much work needs to be done on the part of behaviorism both philosophically and methodologically in order for such reconciliation to be achieved.
Lien vers le texte intégral (Open Access ou abonnement)
21. Sicca F, Ambrosini E, Marchese M, Sforna L, Servettini I, Valvo G, Brignone MS, Lanciotti A, Moro F, Grottesi A, Catacuzzeno L, Baldini S, Hasan S, D’Adamo MC, Franciolini F, Molinari P, Santorelli FM, Pessia M. {{Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy}}. {Sci Rep};2016;6:34325.
Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (KCNJ10) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity. To define the role of Kir4.1 variants in the disorder, we sequenced KCNJ10 in a sample of affected individuals, and performed genotype-phenotype correlations. The effects of mutations on channel activity, protein trafficking, and astrocyte function were investigated in Xenopus laevis oocytes, and in human astrocytoma cell lines. An in vivo model of the disorder was also explored through generation of kcnj10a morphant zebrafish overexpressing the mutated human KCNJ10. We detected germline heterozygous KCNJ10 variants in 19/175 affected children. Epileptic spasms with dysregulated sensory processing represented the main disease phenotype. When investigated on astrocyte-like cells, the p.R18Q mutation exerted a gain-of-function effect by enhancing Kir4.1 membrane expression and current density. Similarly, the p.R348H variant led to gain of channel function through hindrance of pH-dependent current inhibition. The frequent polymorphism p.R271C seemed, instead, to have no obvious functional effects. Our results confirm that variants in KCNJ10 deserve attention in autism-epilepsy, and provide insight into the molecular mechanisms of autism and seizures. Similar to neurons, astrocyte dysfunction may result in abnormal synaptic transmission and electrical discharge, and should be regarded as a possible pharmacological target in autism-epilepsy.
Lien vers le texte intégral (Open Access ou abonnement)
22. Sonik RA, Parish SL, Rosenthal ES. {{Sibling Caregivers of People With Intellectual and Developmental Disabilities: Sociodemographic Characteristics and Material Hardship Prevalence}}. {Intellect Dev Disabil};2016 (Oct);54(5):332-341.
In growing numbers, people with intellectual and developmental disabilities are outliving their parents, or at least their parents’ ability to care for them. Consequently, adult siblings without intellectual and developmental disabilities are increasingly taking on primary caregiving responsibilities. However, adult siblings have received little study generally, and sibling caregivers have received even less. We used nationally representative data from the Survey of Income and Program Participation (SIPP) to describe the social characteristics and material hardship levels of sibling caregivers, in comparison to the general working age adult population. This study finds moderate material hardship to be pervasive among sibling caregivers, though extreme levels of hardship are possibly being abated somewhat through public benefit programs. Implications for greater service needs are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
23. Toy H, Herguner A, Simsek S, Herguner S. {{Autistic traits in women with primary dysmenorrhea: a case-control study}}. {Neuropsychiatr Dis Treat};2016;12:2319-2325.
OBJECTIVES: Recent studies have shown that women with autism spectrum disorder have higher rates of menstrual problems, including irregular menstrual cycles, unusually painful periods (dysmenorrhea), and excessive menstrual bleeding. In this study, we investigated the autistic traits in female university students with primary dysmenorrhea (PD). METHODS: Seventy females with PD and 70 females without PD were enrolled in the study. The Autism Spectrum Quotient (AQ) was used to measure autistic traits and the Brief Symptom Inventory was used for evaluating anxiety and depression levels. The dysmenorrheal pain was assessed by visual analog scale (VAS), coded from 0 to 10. Weight and height were measured, and the body mass index was calculated. RESULTS: There were no statistical differences between the groups in terms of age, duration of education, and body mass index. Women with PD had higher AQ – Total, and AQ – Attention Switching subscale scores than subjects without PD. Spearman analysis revealed that AQ – Total and AQ – Attention Switching scores were correlated with VAS. According to the linear regression analysis, VAS was predicted only by AQ – Attention Switching subscale. CONCLUSION: Our findings showed an association between autistic traits and dysmenorrhea in typically developing females.
Lien vers le texte intégral (Open Access ou abonnement)
24. Venkataraman A, Yang DY, Dvornek N, Staib LH, Duncan JS, Pelphrey KA, Ventola P. {{Pivotal response treatment prompts a functional rewiring of the brain among individuals with autism spectrum disorder}}. {Neuroreport};2016 (Sep 28);27(14):1081-1085.
Behavioral interventions for autism have gained prominence in recent years; however, the neural-systems-level targets of these interventions remain poorly understood. We use a novel Bayesian framework to extract network-based differences before and after a 16-week pivotal response treatment (PRT) regimen. Our results suggest that the functional changes induced by PRT localize to the posterior cingulate and are marked by a shift in connectivity from the orbitofrontal cortex to the occipital-temporal cortex. Our results illuminate a potential PRT-induced learning mechanism, whereby the neural circuits involved during social perception shift from sensory and attentional systems to higher-level object and face processing areas.
Lien vers le texte intégral (Open Access ou abonnement)
25. Wu YW, Kuzniewicz MW, Croen L, Walsh EM, McCulloch CE, Newman TB. {{Risk of Autism Associated With Hyperbilirubinemia and Phototherapy}}. {Pediatrics};2016 (Sep 26)
OBJECTIVE: Whether neonatal hyperbilirubinemia and/or phototherapy increase the risk of autism spectrum disorder (ASD) is unclear. We sought to quantify the risk of ASD associated with elevated total serum bilirubin (TSB) levels and with phototherapy. METHODS: In a retrospective cohort study of 525 409 infants born at >/=35 weeks’ gestation in 15 Kaiser Permanente Northern California (KPNC) hospitals, 1995-2011, we obtained all TSB levels and determined which infants received phototherapy. From the KPNC Autism Registry, we identified patients with ASD diagnosed at a KPNC Autism Center, by a clinical specialist, or by a pediatrician. We calculated Cox proportional hazard ratios (HRs) for time to diagnosis of ASD, adjusting for confounding factors. RESULTS: Among infants in the birth cohort, 2% had at least 1 TSB level >/=20 mg/dL, and 8% received phototherapy. The rate of ASD was 13 per 1000 births. Crude analyses revealed an association between TSB >/=20 and ASD (relative risk: 1.4; 95% confidence interval [CI]: 1.1-1.6), and between phototherapy and ASD (relative risk: 1.7; 95% CI: 1.5-1.8). After adjusting for confounders, TSB >/=20 (HR: 1.09; 95% CI: 0.89-1.35) and phototherapy (HR: 1.10; 95% CI: 0.98-1.24) were no longer significantly associated with ASD. Independent risk factors for ASD included maternal and paternal age; maternal and paternal higher education; male sex; birth weight <2500 g or >/=4200 g; and later year of birth. CONCLUSIONS: After adjustment for the effects of sociodemographic factors and birth weight, neither hyperbilirubinemia nor phototherapy was an independent risk factor for ASD.
