1. Ansari NJ, Dhongade RK, Lad PS, Borade A, Yg S, Yadav V, Mehetre A, Kulkarni R. {{Study of Parental Perceptions on Health & Social Needs of Children with Neuro-Developmental Disability and It’s Impact on the Family}}. {J Clin Diagn Res};2016 (Dec);10(12):SC16-SC20.
INTRODUCTION: The term Neuro Developmental Disorder (NDD) is used for conditions caused by a dysfunction in any part of the brain or nervous system, resulting in physical and/or psychological symptoms as a child develops. Family of children with NDD face many problems. It is very important to find them and create awareness so that gaps in essential services and supports can be decreased. AIM: To explore parental perceptions on health & social needs of children with NDD, to understand the impact of disability on the families having children with disability, and to find out the parental perceptions on availability of services for children with NDD and its utilization by families. MATERIALS AND METHODS: The parents of 30 children with NDD were interviewed using a questionnaire and data elicited in these interviews were analysed. The questionnaire had preliminary information about parents and child with NDDs, socio-demographic profile of the family and the parental perceptions on health and social needs of their child having NDDs. RESULTS: There were total 30 patients 17 were males and 13 were females. Most of the patients suffered from Cerebral Palsy (13 cases) and were diagnosed by General Practitioner (22 cases) while Developmental Neurologist/paediatrician had diagnosed remaining cases of NDD (8 cases). Most common disability for which parents were worried was inability to walk (17 cases). Common difficulties countered in daily care by parents were feeding and bathing (10 cases). Only 2 children were given assistance with tuition & psychologist (cases of ADHD). Most of the parents knew about special schools but didn’t know which place such facilities were available and none of the children were attending special schools. Twenty two parents said they have no plans for the future studies but wish that at least child learns to read & write. With help of spiritual power (doing prayers and pooja) 25 parents got courage to face the difficulties and discrimination. Two parents required antidepressants. Six Mothers had to quit their jobs so as to concentrate and give more time to their children. Experience with services provided was satisfactory in 17 cases, while 13 parents reported problem of arranging money, adjusting time for long travelling and regular follow-up. CONCLUSION: The findings can be utilized in developing supportive activities for families with disabled children. It addresses the need for new prospective of stigma reduction in our society. The study has found that the care givers of child with NDDs suffer from significant physical and mental stress, and their health should be taken into consideration. The study has found need of « care givers’ support group ». The professionals can help parents in establishing positive thinking towards care giving. There is need of provision of comprehensive and latest rehabilitation/ support resources & information.
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2. Call NA, Mevers JL, McElhanon BO, Scheithauer MC. {{A MULTIDISCIPLINARY TREATMENT FOR ENCOPRESIS IN CHILDREN WITH DEVELOPMENTAL DISABILITIES}}. {J Appl Behav Anal};2017 (Feb 17)
Achieving continence of one’s bowel movements is a key step in development and failure to do so leads to many negative consequences. Treatments for encopresis appearing in the literature have employed behavioral strategies; medications such as suppositories, laxatives, or enemas; and in some studies a combination of these approaches. To date, attempts to extend successful treatments for encopresis in typically developing children to those with developmental disabilities have been limited. The current study included three participants diagnosed with developmental disabilities who had a history of encopresis. None of the participants had a continent bowel movement under baseline conditions. Continent bowel movements increased during treatment that included the addition of suppositories to elicit continent bowel movements. Two participants began having independent continent bowel movements (i.e., without requiring suppositories) and medication was successfully faded out for the remaining participant. Treatment took between 13 and 21 days.
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3. Cohrs AC, Leslie DL. {{Depression in Parents of Children Diagnosed with Autism Spectrum Disorder: A Claims-Based Analysis}}. {J Autism Dev Disord};2017 (Feb 18)
Previous studies showing that Autism Spectrum Disorder (ASD) in children can have secondary effects on the child’s parents are limited by small sample sizes and parent self-report. We examined the odds of depression in parents of children with ASD compared to parents of children without ASD using a large national claims database. Mothers (OR 2.95, 95% CI 2.81-3.09) and fathers (OR 2.41, 95% CI 2.25-2.58) of children with ASD were more likely to have a diagnosis of depression than parents of children without ASD. Odds of depression also increased when there was more than one child with ASD in the family and with child age. Study results reinforce the benefits of support and education for parents of children with ASD.
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4. Deacon RM, Hurley MJ, Rebolledo CM, Snape M, Altimiras FJ, Farias L, Pino M, Biekofsky R, Glass L, Cogram P. {{Nrf2, A Novel Therapeutic Target in Fragile X Syndrome is Modulated by NNZ2566}}. {Genes Brain Behav};2017 (Feb 17)
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes. We also demonstrate that NNZ2566, a drug that has successfully completed a phase 2 clinical trial in FXS, is effective in modulating this target in FXS, partially reversing the FXS phenotype: NNZ2566 has a therapeutic role as Nrf2 activator. Effectively, treatment with NNZ2566 normalizes the translocation of Nrf2 to the nucleus, inducing expression of numerous oxidative stress related genes including NQO1, GST-alpha1 and EH and has a knockdown effect on E-cadherin. In summary, the Nrf2/ARE pathway appears to be a novel promising therapeutic target for FXS and NNZ2566 appears to be acting as an activator of the Nrf2/ARE pathway and suggests a potential benefit across multiple symptoms that could be associated with the pathobiological processes underlying FXS.
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5. Delhey LM, Nur Kilinc E, Yin L, Slattery JC, Tippett ML, Rose S, Bennuri SC, Kahler SG, Damle S, Legido A, Goldenthal MJ, Frye RE. {{The Effect of Mitochondrial Supplements on Mitochondrial Activity in Children with Autism Spectrum Disorder}}. {J Clin Med};2017 (Feb 13);6(2)
Treatment for mitochondrial dysfunction is typically guided by expert opinion with a paucity of empirical evidence of the effect of treatment on mitochondrial activity. We examined citrate synthase and Complex I and IV activities using a validated buccal swab method in 127 children with autism spectrum disorder with and without mitochondrial disease, a portion of which were on common mitochondrial supplements. Mixed-model linear regression determined whether specific supplements altered the absolute mitochondrial activity as well as the relationship between the activities of mitochondrial components. Complex I activity was increased by fatty acid and folate supplementation, but folate only effected those with mitochondrial disease. Citrate synthase activity was increased by antioxidant supplementation but only for the mitochondrial disease subgroup. The relationship between Complex I and IV was modulated by folate while the relationship between Complex I and Citrate Synthase was modulated by both folate and B12. This study provides empirical support for common mitochondrial treatments and demonstrates that the relationship between activities of mitochondrial components might be a marker to follow in addition to absolute activities. Measurements of mitochondrial activity that can be practically repeated over time may be very useful to monitor the biochemical effects of treatments.
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6. Do B, Lynch P, Macris EM, Smyth B, Stavrinakis S, Quinn S, Constable PA. {{Systematic review and meta-analysis of the association of Autism Spectrum Disorder in visually or hearing impaired children}}. {Ophthalmic Physiol Opt};2017 (Mar);37(2):212-224.
PURPOSE: To determine whether there is an association with a congenital visual or hearing impairment (VI or HI) and Autism Spectrum Disorder (ASD) in children. METHODS: A systematic literature review was performed using nine relevant databases limited to peer reviewed articles in English between 1994 and January 2016. The search identified 1248 articles after duplicates were removed with subsequent screening of the abstracts excluding a further 1199, resulting in 49 full-text articles that were then independently assessed by five of the authors with a final 15 articles meeting the inclusion criteria. Bias assessment was determined through consensus of the first five authors. A meta-analysis of the included studies was performed to estimate the relative risk of ASD in the VI and HI groups compared to the general population based on reported prevalence rates in similar geographical regions. Overall prevalence rates for ASD were calculated from the combined studies in the VI and HI populations. RESULTS: The overall prevalence of ASD in VI and HI populations was 19% (95% CI 13-25%) and 9% (95% CI 6-12%) respectively. The overall risk-ratio of ASD was greater in the VI 31.0 times (95% CI 18.62-51.56); z = 13.21, p < 0.001) and HI groups 14.1 times (95% CI 3.41-58.62; z = 3.65, p < 0.001) compared to reported ASD prevalence in the general population. CONCLUSION: There is a high association of ASD in VI or HI children and therefore these populations should be assessed for ASD in the presence of a visual or hearing disability. Lien vers le texte intégral (Open Access ou abonnement)
7. Lake JK, Denton D, Lunsky Y, Shui AM, Veenstra-VanderWeele J, Anagnostou E. {{Medical Conditions and Demographic, Service and Clinical Factors Associated with Atypical Antipsychotic Medication Use Among Children with An Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 16)
This study aimed to describe rates of antipsychotic medication use and the association between their use and demographics, clinical variables, and the use of behavioral/education services among children with ASD. For children with ASD ages 2-11 (n = 4749) and those 12-17 (n = 401), 5.4 and 17.7% were prescribed at least one atypical antipsychotic medication respectively. In the multivariable model of young children, older age, use of multiple psychotropic medications, prior ASD diagnosis, non-white Hispanic race/ethnicity, and oppositional defiant problems were associated with antipsychotic use. Among older children, only older age was associated with antipsychotic use. In at least one age group, antipsychotic medication use was also related to behaviour, family and occupational therapy, public insurance, site region, externalizing problems, body mass index, and sleep and gastrointestinal problems.
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8. Leaf JB, Cihon JH, Alcalay A, Mitchell E, Townley-Cochran D, Miller K, Leaf R, Taubman M, McEachin J. {{Instructive feedback embedded within group instruction for children diagnosed with autism spectrum disorder}}. {J Appl Behav Anal};2017 (Feb 17)
The present study evaluated the effects of instructive feedback embedded within a group discrete trial teaching to teach tact relations to nine children diagnosed with autism spectrum disorder using a nonconcurrent multiple-baseline design. Dependent variables included correct responses for: primary targets (directly taught), secondary targets (taught via instructive feedback), primary observational targets (directly taught to other members of the group), and secondary observational targets (taught via instructive feedback provided to other members of the group). Results showed that all nine participants reached the mastery criterion for the primary targets, as well as acquired the secondary and observational targets without direct teaching. Clinical implications and areas for future research are provided.
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9. Matson JL, Matheis M, Burns CO, Esposito G, Venuti P, Pisula E, Misiak A, Kalyva E, Tsakiris V, Kamio Y, Ishitobi M, Goldin RL. {{Examining cross-cultural differences in autism spectrum disorder: A multinational comparison from Greece, Italy, Japan, Poland, and the United States}}. {Eur Psychiatry};2017 (Feb 14);42:70-76.
Autism spectrum disorder (ASD) is characterized by social and communication impairments as well as restricted, repetitive behavior patterns. Despite the fact that ASD is reported worldwide, very little research exists examining ASD characteristics on a multinational scale. Cross-cultural comparisons are especially important for ASD, since cultural differences may impact the perception of symptoms. Identifying behaviors that are similarly reported as problematic across cultures as well as identifying behaviors in which there is cultural variation could aid in the development and refinement of more universally effective measures. The present study sought to examine similarities and differences in caregiver endorsement of symptom severity through scores on the Baby Infant Screen for Children with aUtIsm Traits (BISCUIT). The BISCUIT was utilized to examine ASD core symptomology in 250 toddlers diagnosed with ASD from Greece, Italy, Japan, Poland, and the United States. Significant differences in overall ASD symptom severity and endorsement were found between multinational groups. Implications of the results are discussed.
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10. Mazza M, Mariano M, Peretti S, Masedu F, Pino MC, Valenti M. {{The Role of Theory of Mind on Social Information Processing in Children With Autism Spectrum Disorders: A Mediation Analysis}}. {J Autism Dev Disord};2017 (Feb 18)
Individuals with autism spectrum disorders (ASD) show significant impairments in social skills and theory of mind (ToM). The aim of this study was to evaluate ToM and social information processing abilities in 52 children with ASD compared to 55 typically developing (TD) children. A mediation analysis evaluated whether social information processing abilities can be mediated by ToM competences. In our results, children with autism showed a deficit in social skills and ToM components. The innovative results of our study applying mediation analysis demonstrate that ToM plays a key role in the development of social abilities, and the lack of ToM competences in children with autism impairs their competent social behavior.
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11. Modi ME, Sahin M. {{Translational use of event-related potentials to assess circuit integrity in ASD}}. {Nat Rev Neurol};2017 (Feb 17)
Deficits in social cognition are the defining characteristic of autism spectrum disorder (ASD). Social cognition requires the integration of several neural circuits in a time-sensitive fashion, so impairments in social interactions could arise as a result of alterations in network connectivity. Electroencephalography (EEG) has revealed abnormalities in event related potentials (ERPs) evoked by auditory and visual sensory stimuli in humans with ASD, indicating disruption of neural connectivity. Similar abnormalities in sensory-evoked ERPs have been observed in animal models of ASD, suggesting that ERPs have the potential to provide a translational biomarker of the disorder. People with ASD also have abnormal ERPs in response to auditory and visual social stimuli, demonstrating functional disruption of the social circuit. To assess the integrity of the social circuit and characterize biomarkers of circuit dysfunction, novel EEG paradigms that use social stimuli to induce ERPs should be developed for use in animal models. The identification of a socially-relevant ERP that is consistent in animal models and humans would facilitate the development of pharmacological treatment strategies for the social impairments in ASD and other neuropsychiatric disorders.
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12. Ohl A, Grice Sheff M, Little S, Nguyen J, Paskor K, Zanjirian A. {{Predictors of employment status among adults with Autism Spectrum Disorder}}. {Work};2017 (Feb 17)
BACKGROUND: In the United States, adults with Autism Spectrum Disorder (ASD) experience high rates of unemployment and underemployment in relation to adults with other disabilities and the general population. Yet there is little research examining their employment experiences and the predictors of employment status. OBJECTIVE: The purpose of this study was to examine the employment characteristics and histories of both employed and unemployed adults with ASD, and the factors that contributed to their employment status. METHODS: This cross-sectional study used an online survey and the Short Effort Reward Imbalance (ERI) Scale to gather data. Multivariate logistic regression analyses were used to examine predictors of employment status and self-reported health. RESULTS: Of the 254 adults with ASD who participated in this study, 61.42% were employed and 38.58% were unemployed. Over half of the participants reported job imbalance on the Short ERI Scale and the vast majority did not receive any job assistance. Participants who disclosed their ASD diagnosis to their employer were more than three times as likely to be employed than those who did not disclose. Education level was also a significant predictor of employment status. CONCLUSIONS: This study suggests disability disclosure and education level are factors that contribute to employment status.
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13. Scherr JF, Hogan AL, Hatton D, Roberts JE. {{Stranger Fear and Early Risk for Social Anxiety in Preschoolers with Fragile X Syndrome Contrasted to Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Feb 16)
This study investigated behavioral indicators of social fear in preschool boys with fragile X syndrome (FXS) with a low degree of autism spectrum disorder (ASD) symptoms (FXS-Low; n = 29), FXS with elevated ASD symptoms (FXS-High; n = 25), idiopathic ASD (iASD; n = 11), and typical development (TD; n = 36). Gaze avoidance, escape behaviors, and facial fear during a stranger approach were coded. Boys with elevated ASD symptoms displayed more avoidant gaze, looking less at the stranger and parent than those with low ASD symptoms across etiologies. The iASD group displayed more facial fear than the other groups. Results suggest etiologically distinct behavioral patterns of social fear in preschoolers with elevated ASD symptoms.
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14. Williams ME, Hastings R, Charles JM, Evans S, Hutchings J. {{Parenting for Autism, Language, And Communication Evaluation Study (PALACES): protocol for a pilot randomised controlled trial}}. {BMJ Open};2017 (Feb 16);7(2):e014524.
INTRODUCTION: Children with autistic spectrum disorder (ASD) often have associated behavioural difficulties that can present a challenge for parents and parenting. There are several effective social learning theory-based parenting programmes for dealing with behavioural difficulties, including the Incredible Years (IY) parent programmes. However, these programmes typically do not specifically target parents of children with ASD. Recently, a new addition to the IY suite of programmes known as the IY Autistic Spectrum and Language Delays (IY-ASLD) parent programme was developed. The main aims of the present study are to examine the feasibility of delivering this programme within child health services and to provide initial evidence for effectiveness and economic costs. METHODS AND ANALYSIS: The Parenting for Autism, Language, And Communication Evaluation Study (PALACES) trial is a pragmatic, multicentre, pilot randomised controlled trial comparing the IY-ASLD programme with a wait-list control condition. 72 parents of children with ASD (aged 3-8 years) will be randomly allocated to either the intervention or control condition. Data will be collected prior to randomisation and 6 months postrandomisation for all families. Families in the intervention condition only will also be followed up at 12 and 18 months postrandomisation. This study will provide initial evidence of effectiveness for the newly developed IY-ASLD parenting programme. It will also add to the limited economic evidence for an intervention targeting parents of children with ASD and provide longer term data, an important component for evaluations of parenting programmes. ETHICS AND DISSEMINATION: Approval for the study was granted by the Research Ethics Committee at the School of Psychology, Bangor University (reference number: 2016-15768) and the North Wales Research Ethics Committee, UK (reference number: 16/WA/0224). The findings will be disseminated through research conferences and peer-reviewed journals. TRIAL REGISTRATION NUMBER: ISRCTN57070414; Pre-results.
