1. Amato CA, Santos TH, Barbosa MR, Fernandes FD. {{Longitudinal study of language therapy in 142 children and adolescents with autism spectrum disorders}}. {CoDAS}. 2013;25(4):388-90.
The last 25 years produced important changes in the Speech Language intervention for children with Autism Spectrum Disorders in the whole world. They refer to diagnostic criteria, research methods and systematization of data about diagnostic and intervention processes. In this context, the first results about the use of a recording system used on a specialized service highlights the importance of including information about each intervention process on reliable and accessible systems. This procedure allows the association among several types of data and studies with large populations, something that is not usual in the field.
2. Anonymous O. {{My Son’s Life with Autistic Spectrum Disorder}}. {Narrative inquiry in bioethics}. 2012;2(3):151-3.
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3. Anonymous O, Anonymous T, Centineo L, Anonymous T, Clapp V, Cornell C, Coughlin N, McDonald D, Osteen M, Shumaker L, Van der Poel J, Anonymous F. {{Parenting children with autism spectrum disorders through the transition to adulthood}}. {Narrative inquiry in bioethics}. 2012;2(3):151-81.
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4. Anonymous T. {{« Call me ‘he' »: on the relationship between autism, gender, and authenticity}}. {Narrative inquiry in bioethics}. 2012;2(3):153-6.
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5. Backes B, Zanon RB, Bosa CA. {{The relation between language regression and social communicative development of children with autism spectrum disorder}}. {CoDAS}. 2013;25(3):268-73.
PURPOSE: To investigate the relationship between language regression and the subsequent social-communicative development of preschool children with Autism Spectrum Disorder (ASD). METHODS: Thirty children with ASD participated in the study and were divided into two groups: with (n= 6) and without (n= 24) language regression. Language regression was assessed by the Autism Diagnostic Interview-Revised and the social-communicative development was measured by the Autism Diagnostic Observation Schedule. RESULTS: Of the 30 children who met the criteria for participation in this study, six (20%) had regression of oral language skills, with a mean age of onset of 25 months. There were no statistical significant differences in the social-communicative development between the groups with and without language regression. CONCLUSION: The findings of this research do not seem to confirm the relationship between the occurrence of language regression and the subsequent impairment on social-communicative development of children with ASD.
6. Cornell C, Herren J, Osborne S, Weiss K. {{Personal narratives: parenting children with autism spectrum disorders through the transition to adulthood}}. {Narrative inquiry in bioethics}. 2012;2(3):E1-E10.
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7. Deb S, Farmah BK, Arshad E, Deb T, Roy M, Unwin GL. {{The effectiveness of aripiprazole in the management of problem behaviour in people with intellectual disabilities, developmental disabilities and/or autistic spectrum disorder – A systematic review}}. {Research in developmental disabilities}. 2014 Jan 6.
The management of problem behaviours (PB) in individuals with intellectual disabilities (ID), developmental disabilities (DD) and/or autistic spectrum disorders (ASD) can be challenging. Antipsychotic medications are commonly prescribed where other strategies have failed. A systematic review (SR) was conducted to establish the research evidence for the efficacy of aripiprazole in the management of PB in adults and children with ID, DD and/or ASD. Although included studies supported the efficacy of aripiprazole for this indication, the overall quality of studies was poor. Of the 20 studies included in this systematic review there were only two randomised controlled trials (RCTs) on children with ASD and/or ID/DD, both of which were conducted by the pharmaceutical company that manufactures aripiprazole, and it is not clear whether a number of same participants were included in both RCTs. One of the RCTs was extended into an open label long term follow up, which showed that aripiprazole’s efficacy lasted over 52 weeks and the adverse effects were tolerable. Four studies were open label prospective studies, 11 were retrospective case reports which included four single case reports, and two were prospective case series. Most studies reported adverse effects from aripiprazole in the form of weight gain, increased appetite, sedation, tiredness, drooling and tremor. However, aripiprazole improved serum prolactin level in some participants and overall did not show any adverse effect on QTc interval. There is a need for more carefully designed RCTs into the use of aripiprazole in the management of PB in people with ID/DD and/or ASD, which should be carried out independent of pharmaceutical companies.
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8. Dineen K, Bultas M. {{Introduction: parenting children with autism spectrum disorders during the transition to adulthood}}. {Narrative inquiry in bioethics}. 2012;2(3):147-9.
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9. El-Ghoroury NH. {{Resilience and the narratives of parents of adults with autism spectrum disorders}}. {Narrative inquiry in bioethics}. 2012;2(3):189-97.
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10. Fernandes FD, Amato CA. {{Applied Behavior Analysis and Autism Spectrum Disorders: literature review}}. {CoDAS}. 2013;25(3):289-96.
PURPOSE: Systematic literature review about Applied Behavior Analysis (ABA) proposals directed towards persons with Autistic Spectrum Disorders aiming to contribute to a truly evidence-based practice. RESEARCH STRATEGY: References from the last five years were obtained from the Web of Science, Medline, SciELO and Lilacs databases. SELECTION CRITERIA: Papers published in peer-reviewed journals were selected. Exclusion criteria were language, type of paper, theme and repeated papers. This selection resulted in 52 articles that were completely analyzed. DATA ANALYSIS: Information regarding author, journal and date; title; theme and approach; casuistic; inclusion and exclusion criteria and conclusion was considered. RESULTS: The papers refer to intervention processes, literature reviews, professional education, and parents’ contributions to the intervention programs. Only four papers report the parents’ role in the use of ABA principles at home. Studies about Professional education emphasize the specialized education. Most of the literature review papers conclude that the intervention programs are controversial, expensive and dependent of external variables. Although the articles describing intervention processes include 663 participants, a meta-analysis is not possible due to the lack of comparable inclusion and characterization criteria. CONCLUSION: There is not enough evidence of ABA’s preponderance over other alternatives.
11. Gatto CL, Pereira D, Broadie K. {{GABAergic circuit dysfunction in the Drosophila Fragile X syndrome model}}. {Neurobiology of disease}. 2014 Jan 11.
Fragile X syndrome (FXS), caused by loss of FMR1 gene function, is the most common heritable cause of intellectual disability and autism spectrum disorders. The FMR1 protein (FMRP) translational regulator mediates activity-dependent control of synapses. In addition to the metabotropic glutamate receptor (mGluR) hyperexcitation FXS theory, the GABA theory postulates that hypoinhibition is causative for disease state symptoms. Here, we use the Drosophila FXS model to assay central brain GABAergic circuitry, especially within the Mushroom Body (MB) learning center. All 3 GABAA receptor (GABAAR) subunits are reportedly downregulated in dfmr1 null brains. We demonstrate parallel downregulation of glutamic acid decarboxylase (GAD), the rate-limiting GABA synthesis enzyme, although GABAergic cell numbers appear unaffected. Mosaic analysis with a repressible cell marker (MARCM) single-cell clonal studies show that dfmr1 null GABAergic neurons innervating the MB calyx display altered architectural development, with early underdevelopment followed by later overelaboration. In addition, a new class of extra-calyx terminating GABAergic neurons is shown to include MB intrinsic alpha/beta Kenyon Cells (KCs), revealing a novel level of MB inhibitory regulation. Functionally, dfmr1 null GABAergic neurons exhibit elevated calcium signaling and altered kinetics in response to acute depolarization. To test the role of these GABAergic changes, we attempted to pharmacologically restore GABAergic signaling and assay effects on the compromised MB-dependent olfactory learning in dfmr1 mutants, but found no improvement. Our results show that GABAergic circuit structure and function are impaired in the FXS disease state, but that correction of hypoinhibition alone is not sufficient to rescue a behavioral learning impairment.
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12. Idring S, Magnusson C, Lundberg M, Ek M, Rai D, Svensson AC, Dalman C, Karlsson H, Lee BK. {{Parental age and the risk of autism spectrum disorders: findings from a Swedish population-based cohort}}. {International journal of epidemiology}. 2014 Jan 9.
BACKGROUND:: The objectives of this study were to examine the independent and dependent associations of maternal and paternal age and risk of offspring autism spectrum disorders (ASD), with and without intellectual disability (ID). METHODS:: The sample consisted of 417 303 Swedish children born 1984-2003. ASD case status (N = 4746) was ascertained using national and regional registers. Smoothing splines in generalized additive models were used to estimate associations of parental age with ASD. RESULTS:: Whereas advancing parental age increased the risk of child ASD, maternal age effects were non-linear and paternal age effects were linear. Compared with mothers at the median age 29 years, those <29 had similar risk, whereas risk increased after age 30, with an odds ratio (OR) of 1.75 [95% (CI): 1.63-1.89] at ages 40-45. For fathers, compared with the median age of 32 years, the OR for ages 55-59 was 1.39 (1.29-1.50). The risk of ASD was greater for older mothers as compared with older fathers. For example, mothers aged 40-45 (>/=97.2th percentile) had an estimated 18.63 (95% CI: 17.25-20.01) ASD cases per 1000 births, whereas fathers aged 55-59 (>/=99.7th percentile) had 16.35 (95% CI: 15.11-17.58) ASD cases per 1000 births. In analyses stratified by co-parental age, increased risk due to advancing paternal age was evident only with mothers </=35 years. In contrast, advancing maternal age increased risk regardless of paternal age. Advancing parental age was more strongly associated with ASD with ID, compared with ASD without ID. CONCLUSIONS:: We confirm prior findings that advancing parental age increases risk of ASD, particularly for ASD with ID, in a manner dependent on co-parental age. Although recent attention has emphasized the effects of older fathers on ASD risk, an increase of n years in maternal age has greater implications for ASD risk than a similar increase in paternal age.
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13. Johnson MH. {{Autism: demise of the innate social orienting hypothesis}}. {Current biology : CB}. 2014 Jan 6;24(1):R30-1.
Some have suggested that autism may be caused by poor orienting to social stimuli in early infancy, compounded by the resulting failures to learn from, and about, other humans. Recent results contradict this hypothesis, suggesting a need to rethink.
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14. McDuffie A, Thurman AJ, Hagerman RJ, Abbeduto L. {{Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores}}. {J Autism Dev Disord}. 2014 Jan 11.
Symptoms of autism are frequent in males with fragile X syndrome (FXS), but it is not clear whether symptom profiles differ from those of nonsyndromic ASD. Using individual item scores from the Autism Diagnostic Inventory-Revised, we examined which current symptoms of autism differed in boys with FXS relative to same-aged boys diagnosed with nonsyndromic ASD. In addition, different subsamples of participants were matched on autism diagnostic status and severity of autism symptoms. Between-group comparisons revealed that boys with FXS showed significantly less impairment in Social Smiling than did age-, diagnostic-, and severity-matched boys with nonsyndromic ASD. Severity-matched boys with FXS showed more impairment in complex mannerisms than did boys with nonsyndromic ASD. Behavioral differences between FXS and nonsyndromic ASD may be of theoretical importance in understanding the causes and correlates of ASD in FXS and in developing and implementing appropriate treatments.
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15. Miilher LP, Fernandes FD. {{Considering responsivity: a proposal for pragmatic analysis in autism spectrum}}. {CoDAS}. 2013;25(1):70-5.
PURPOSE: To compare the pragmatic profile referring to the communicative initiatives and the bi-dimensional profile involving the aspects of initiative and responsivity. It also aimed to analyze the most common types of responses presented by the studied individuals. METHODS: Thirty recorded samples of interaction between speech-language therapist and children with autism spectrum disorders (mean age: 9 years and 6 months) sessions were analyzed. The samples were transcribed and data analyzed about number of communicative acts, occupation of the communicative space, use of communicative means (verbal, vocal and gestural) and total number of participations (initiatives and responses). The responses were qualified as « non-answer », « adequate answer », « inadequate answer » and « pragmatically inappropriate answer ». RESULTS: Significant differences in the comparison of the numbers of initiatives and total participations and of occupation of communicative space and total number of communicative acts. There was also a significant difference in the number of « adequate answers ». CONCLUSION: Results show the need to consider the bi-dimensional communicative profile and qualify the answers in order to determine the child’s communication abilities.
16. Newsom CR, Weitlauf AS, Taylor CM, Warren ZE. {{Parenting Adults with ASD: Lessons for Researchers and Clinicians}}. {Narrative inquiry in bioethics}. 2012;2(3):199-205.
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17. Parsi K, Elster N. {{Growing up with autism: challenges and opportunities of parenting young adult children with autism spectrum disorders}}. {Narrative inquiry in bioethics}. 2012;2(3):207-11.
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18. Ruiz-Robledillo N, De Andres-Garcia S, Perez-Blasco J, Gonzalez-Bono E, Moya-Albiol L. {{Highly resilient coping entails better perceived health, high social support and low morning cortisol levels in parents of children with autism spectrum disorder}}. {Research in developmental disabilities}. 2014 Jan 6.
The negative consequences of caring for people with developmental disabilities have been widely described. However, the ability to bounce back from the stress derived from care situations has been less studied. Those caregivers who have shown this ability are considered as resilient. This study aims to evaluate the relationship between resilience and self-reported health and cortisol awakening response (CAR) in a sample of caregivers of people with autism spectrum disorders (ASD). It also aims to evaluate the role of social support as a mediator in the association between resilience and health. Caregivers with higher resilience show better perceived health, lower morning cortisol levels, and less area under the curve with respect to ground (AUCg). Social support was positively related to resilience and mediated the relationship between resilience and perceived health. This mediating effect was not found in the association between resilience and CAR. Resilience could be a protective factor that modulates the negative consequences of chronic stress in the care context. Social support could be an important variable mediating the effects of resilience on health outcomes in caregivers. All these results must be considered when implementing effective psychological programs for helping caregivers.
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19. Shelton AL, Cornish K, Kraan C, Georgiou-Karistianis N, Metcalfe SA, Bradshaw JL, Hocking DR, Archibald AD, Cohen J, Trollor JN, Fielding J. {{Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements}}. {Brain and cognition}. 2014 Jan 11;85C:201-8.
There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.
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20. Shumaker L. {{Love, autism style}}. {Narrative inquiry in bioethics}. 2012;2(3):173-6.
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21. Vieira CB, Fernandes FD. {{Quality of life of siblings of children included in the autism spectrum}}. {CoDAS}. 2013;25(2):120-7.
PURPOSE: To assess the Quality of Life in siblings of children of the autism spectrum through self-response to the World Health Organization Quality of Life (WHOQOL)-BREF questionnaire. METHODS: Social-demographic data of 77 children included in the autism spectrum, aged 3 to 16 years, were collected. From these information, 21 older siblings, aged 16 to 30 years, were selected to answer said questionnaire, proposed by the World Health Organization Mental Health Program for quality of life evaluation. RESULTS: The data have shown a difference between the Environmental domain and the Physical and Psychological domains. CONCLUSION: The aspects related to the environment have an important role to the perception of quality of life self-declared by the subjects. However, family individuality, coping behaviors, social support, and assistance received directly interfere on this perception.
22. Windham GC, Smith KS, Rosen N, Anderson MC, Grether JK, Coolman RB, Harris S. {{Autism and Developmental Screening in a Public, Primary Care Setting Primarily Serving Hispanics: Challenges and Results}}. {J Autism Dev Disord}. 2014 Jan 10.
We implemented screening of children 16-30 months of age (n = 1,760) from a typically under-served, primarily Hispanic, population, at routine pediatric appointments using the modified checklist for autism in toddlers (M-CHAT) and Ages and Stages Questionnaire. Screen positive rates of 26 and 39 %, respectively, were higher than previous reports. Hispanics were more likely to score M-CHAT positive than non-Hispanics (adjusted OR 1.7, 95 % CI 1.2-2.4), as were those screened in Spanish. About 30 % of screen-positive children were referred for further assessment, but only half were seen. Thus screening in this population is feasible, but may require additional resources. Attention to the cultural applicability of screening instruments, as well as to explaining the results or need for additional services to parents, is critical to serve the growing Hispanic population.
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23. Yoo HJ, Bahn G, Cho IH, Kim EK, Kim JH, Min JW, Lee WH, Seo JS, Jun SS, Bong G, Cho S, Shin MS, Kim BN, Kim JW, Park S, Laugeson EA. {{A Randomized Controlled Trial of the Korean Version of the PEERS Parent-Assisted Social Skills Training Program for Teens With ASD}}. {Autism research : official journal of the International Society for Autism Research}. 2014 Jan 9.
Impaired social functioning is a hallmark feature of autism spectrum disorder (ASD), often requiring treatment throughout the life span. PEERS(R) (Program for the Education and Enrichment of Relational Skills) is a parent-assisted social skills training for teens with ASD. Although PEERS(R) has an established evidence base in improving the social skills of adolescents and young adults with ASD in North America, the efficacy of this treatment has yet to be established in cross-cultural validation trials. The objective of this study is to examine the feasibility and treatment efficacy of a Korean version of PEERS(R) for enhancing social skills through a randomized controlled trial (RCT).The English version of the PEERS(R) Treatment Manual (Laugeson & Frankel, 2010) was translated into Korean and reviewed by 21 child mental health professionals. Items identified as culturally sensitive were surveyed by 447 middle school students, and material was modified accordingly. Participants included 47 teens between 12 and 18 years of age with a diagnosis of ASD and a verbal intelligence quotient (IQ) >/= 65. Eligible teens were randomly assigned to a treatment group (TG) or delayed treatment control group (CG). Primary outcome measures included questionnaires and direct observations quantifying social ability and problems directly related to ASD. Secondary outcome measures included scales for depressive symptoms, anxiety, and other behavioral problems. Rating scales for parental depressive symptoms and anxiety were examined to detect changes in parental psychosocial functioning throughout the PEERS(R) treatment. Independent samples t-tests revealed no significant differences at baseline across the TG and CG conditions with regard to age (14.04 +/- 1.64 and 13.54 +/- 1.50 years), IQ (99.39 +/- 18.09 & 100.67 +/- 16.97), parental education, socioeconomic status, or ASD symptoms (p < 0.05), respectively. Results for treatment outcome suggest that the TG showed significant improvement in communication and social interaction domain scores on the Autism Diagnostic Observation Schedule, interpersonal relationship and play/leisure time on the subdomain scores of the Korean version of the Vineland Adaptive Behavior Scale (p’s < 0.01), social skills knowledge total scores on the Test of Adolescent Social Skills Knowledge-Revised (p < 0.01), and decreased depressive symptoms on the Child Depression Inventory following treatment (p < 0.05). Analyses of parental outcome reveal a significant decrease in maternal state anxiety in the TG after controlling for potential confounding variables (p < 0.05). Despite cultural and linguistic differences, the PEERS(R) social skills intervention appears to be efficacious for teens with ASD in Korea with modest cultural adjustment. In an RCT, participants receiving the PEERS(R) treatment showed significant improvement in social skills knowledge, interpersonal skills, and play/leisure skills, as well as a decrease in depressive symptoms and ASD symptoms. This study represents one of only a few cross-cultural validation trials of an established evidence-based treatment for adolescents with ASD. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
