1. Anixt JS, Meinzen-Derr J, Estridge H, Smith L, Brinkman WB. {{Characteristics of Treatment Decisions to Address Challenging Behaviors in Children with Autism Spectrum Disorder}}. {J Dev Behav Pediatr}. 2018.
OBJECTIVE: To describe the characteristics of treatment decisions to address challenging behaviors in children with autism spectrum disorder (ASD). METHODS: Parents of children aged 4 to 15 years with ASD seen in a developmental behavioral pediatric (DBP) clinic completed validated measures to characterize their child’s behaviors and their own level of stress. Parents reported their treatment priority before the visit. During the visit, we assessed shared decision making (SDM) using the Observing Patient Involvement (OPTION) scale and alignment of the clinician’s treatment plan with the parent’s priority. Before and after the visit, parents rated their uncertainty about the treatment plan using the Decisional Conflict Scale (DCS). We calculated descriptive statistics for the measures. RESULTS: Fifty-four families participated. Children were a mean (SD) age of 8.8 (3.3) years, and 87% were male. Children had a variety of behavioral challenges, and parents reported high levels of stress. Commonly reported parent treatment priorities were hyperactivity, tantrums, anxiety, and poor social skills. Levels of SDM were low, with a mean (SD) OPTION score of 24.5 (9.7). Parent priorities were addressed in 65% of treatment plans. Approximately 69% of parents had elevated DCS scores before the visit. Although levels of decisional conflict were lower after the visit compared with before the visit (p < 0.03), 46% of parents continued to report high scores on the DCS. CONCLUSION: Parents leave DBP visits with feelings of uncertainty about treatment decisions and with treatment plans that do not always address their priorities. SDM interventions hold promise to improve the quality of ASD treatment decisions. Lien vers le texte intégral (Open Access ou abonnement)
2. Bell L, Oliver C, Wittkowski A, Moss J, Hare D. {{Attenuated behaviour in Cornelia de Lange and fragile X syndromes}}. {J Intellect Disabil Res}. 2018.
BACKGROUND: Catatonia-like presentations in people with autism have been increasingly recognised within research and diagnostic guidelines. The recently developed Attenuated Behaviour Questionnaire has identified that attenuated behaviour [autistic catatonia] is very prevalent in people with autism spectrum disorders (ASDs) and associated with repetitive behaviour. In the current study, we investigated attenuated behaviour within two genetic syndromes associated with ASD and examined ASD and repetitive behaviour as longitudinal predictors of attenuated behaviour. METHOD: The Attenuated Behaviour Questionnaire was completed by parents/carers of 33 individuals with Cornelia de Lange syndrome (CdLS) and 69 with fragile X syndrome (FXS). Information collected from the same informants 4 years previously was utilised to examine ASD and repetitive behaviour as predictors of later attenuated behaviour, controlling for age, gender and ability. RESULTS: Catatonia-like attenuated behaviour was reported for individuals with CdLS (30.3%) and FXS (11.6%). Slowed movement was more prevalent in people with CdLS. No other phenotypic differences were observed. Across the two groups, repetitive behaviour predicted the presence of attenuated behaviour 4 years later, after controlling for age, gender and ability. CONCLUSIONS: Attenuated behaviour can be identified in individuals with CdLS and FXS and may have an effect on both adaptive behaviour and quality of life. Repetitive behaviours predicted subsequent risk within both groups and should be assessed by services as part of a pro-active strategy of support.
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3. Bontinck C, Warreyn P, Van der Paelt S, Demurie E, Roeyers H. {{The early development of infant siblings of children with autism spectrum disorder: Characteristics of sibling interactions}}. {PLoS One}. 2018; 13(3): e0193367.
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.
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4. Chandradasa M, Williams S. {{High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome}}. {Psychiatric genetics}. 2018.
The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka. Furthermore, we could only access one previous report of the same microdeletion, which was from an autopsy of a 36-week-old infant.
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5. Doenyas C. {{Gut Microbiota, Inflammation, and Probiotics on Neural Development in Autism Spectrum Disorder}}. {Neuroscience}. 2018; 374: 271-86.
Recent evidence implicates immune alterations and gut microbiota dysbiosis in at least some subpopulations of individuals with autism spectrum disorder (ASD). Immune and gut alterations in ASD have mostly been studied separately, and the reviews and theoretical models up to now have mainly considered the immune system as one of the routes for gut-brain communication. We take a different perspective and consider possible common mechanisms of action for the gut microbiota and inflammation on the neural basis of ASD. We propose these to be their effects on ASD-susceptibility genes, neurodevelopment, and intestinal and blood-brain barrier integrity. We then use these common mechanisms to offer pathways for potentially beneficial effects of early-life probiotics on the neural development in ASD. This new perspective yields a conceptual framework for creating effective preventions for mothers at risk of giving birth to children with ASD. Such a framework may also inform effective interventions targeting these common mechanisms of action, which may be shared in many ASD cases regardless of their different etiological profiles. Probiotics may be one example of such preventions and interventions. Finally, the common mechanisms offered by this perspective can be useful in the search of comprehensive theories that can account for the complete neurobiological and behavioral symptoms of ASD.
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6. Fung K, Lake J, Steel L, Bryce K, Lunsky Y. {{ACT Processes in Group Intervention for Mothers of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Few studies have examined interventions or therapeutic processes that may help parents of children with Autism Spectrum Disorder (ASD) manage their stress. This study examines the impact of a brief Acceptance and Commitment Therapy (ACT) group intervention, led by parents, among a cohort of 33 mothers of children with ASD. Changes in ACT process measures (psychological flexibility, cognitive fusion, values) were evaluated at pre, post, and 3 months following the intervention. Mothers reported significant improvement post-intervention in psychological flexibility, cognitive fusion, and value-consistent activities in multiple life domains, including parenting, relationships, and self-care. These improvements were maintained at follow-up. The results provide preliminary evidence that improvements observed in depression and stress may be mediated by cognitive fusion and action-values consistency.
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7. Hirofuji S, Hirofuji Y, Kato H, Masuda K, Yamaza H, Sato H, Takayama F, Torio M, Sakai Y, Ohga S, Taguchi T, Nonaka K. {{Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome}}. {Biochemical and biophysical research communications}. 2018; 498(4): 898-904.
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome. An enrolled subject in this study was a 5-year-old girl carrying a large deletion that included the methyl-CpG-binding domain, transcriptional repression domain, and nuclear localization signal of MECP2. Using the single-cell isolation technique, we found that the two populations of MeCP2-expressing and MeCP2-deficient stem cells kept their MECP2 expression profiles throughout the stages of cell proliferation and neuronal differentiation in vitro. Neurite outgrowth and branching were attenuated in MeCP2-deficient dopaminergic neurons. MeCP2-deficient cells showed reduced mitochondrial membrane potential, ATP production, restricted mitochondrial distribution in neurites, and lower expression of a central mitochondrial fission factor, dynamin-related protein 1 than MeCP2-expressing cells. These data indicated that MeCP2-deficiency dysregulates the expression of mitochondrial factors required for the maturation of dopaminergic neurons. This study also provides insight into the pathogenic mechanism underlying dysfunction of the intracerebral dopaminergic signaling pathway in Rett syndrome.
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8. Hisle-Gorman E, Susi A, Stokes T, Gorman G, Erdie-Lalena C, Nylund CM. {{Prenatal, perinatal, and neonatal risk factors of autism spectrum disorder}}. {Pediatr Res}. 2018.
OBJECTIVE: We explored the association of 29 previously reported neonatal, perinatal and prenatal conditions and exposures with later diagnosis of ASD in a large sample of children followed over multiple years. STUDY DESIGN: A retrospective case-cohort study was formed using the Military Health System database. Cases were identified by International Classification of Diseases, Ninth Revision (ICD-9) codes for ASD between 2000 and 2013 and were matched 3:1 with controls on sex, date of birth, and enrollment time-frame. Exposures included 29 conditions previously associated with ASD; 17 prenatal conditions and their pharmaceutical treatment, 5 perinatal conditions, and 6 neonatal conditions. RESULTS: 8,760 children diagnosed with ASD between age 2-18 years were matched with 26, 280 controls. ASD is associated with maternal mental illness, epilepsy, obesity, hypertension, diabetes, polycystic ovary syndrome, infection, asthma, assisted fertility, hyperemesis, younger maternal age, labor complications, low birth weight, infant infection, epilepsy, birth asphyxia and newborn complications. Greatest increased risk was associated with infant epilepsy (OR 7.57 [5.68-10.07]), and maternal mental health (OR 1.80 [1.65-1.96]), and epilepsy (OR 1.60 [1.02-2.50]) medications. CONCLUSION: ASD is associated with a range of prenatal, perinatal, and neonatal factors, with the highest magnitude associations with maternal medication use and neonatal seizure.Pediatric Research accepted article preview online, 14 March 2018. doi:10.1038/pr.2018.23.
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9. Hudac CM, DesChamps TD, Arnett AB, Cairney BE, Ma R, Webb SJ, Bernier RA. {{Early enhanced processing and delayed habituation to deviance sounds in autism spectrum disorder}}. {Brain and cognition}. 2018; 123: 110-9.
Children with autism spectrum disorder (ASD) exhibit difficulties processing and encoding sensory information in daily life. Cognitive response to environmental change in control individuals is naturally dynamic, meaning it habituates or reduces over time as one becomes accustomed to the deviance. The origin of atypical response to deviance in ASD may relate to differences in this dynamic habituation. The current study of 133 children and young adults with and without ASD examined classic electrophysiological responses (MMN and P3a), as well as temporal patterns of habituation (i.e., N1 and P3a change over time) in response to a passive auditory oddball task. Individuals with ASD showed an overall heightened sensitivity to change as exhibited by greater P3a amplitude to novel sounds. Moreover, youth with ASD showed dynamic ERP differences, including slower attenuation of the N1 response to infrequent tones and the P3a response to novel sounds. Dynamic ERP responses were related to parent ratings of auditory sensory-seeking behaviors, but not general cognition. As the first large-scale study to characterize temporal dynamics of auditory ERPs in ASD, our results provide compelling evidence that heightened response to auditory deviance in ASD is largely driven by early sensitivity and prolonged processing of auditory deviance.
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10. Keefer A, White SW, Vasa RA, Reaven J. {{Psychosocial interventions for internalizing disorders in youth and adults with ASD}}. {International review of psychiatry (Abingdon, England)}. 2018: 1-16.
Internalizing disorders are common in individuals with ASD. Psychosocial interventions targeting these disorders in the ASD population have burgeoned in the last decade. Cognitive-behavioural therapy, modified for ASD, is the most frequently investigated model, although other interventions, including behaviour therapy, third-wave interventions, models targeting transdiagnostic constructs, and alternative interventions and treatment delivery methods are now emerging. This review provides a summary of the efficacy of these interventions in treating internalizing disorders in youth and adults with ASD. The barriers to accessing these treatments, which are experienced by many individuals with ASD and their families, as well as future research directions, are also discussed.
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11. Landa RJ. {{Efficacy of early interventions for infants and young children with, and at risk for, autism spectrum disorders}}. {International review of psychiatry (Abingdon, England)}. 2018: 1-15.
With advances in the field’s ability to identify autism spectrum disorders (ASD) at younger ages, the need for information about the evidence-base for early intervention continues to rise. This review of the ASD early intervention (EI) literature focuses on efficacy studies published within the past 15 years. The neurodevelopmental context for early intervention, timing of initiating intervention, primary intervention approaches, and predictors of treatment outcomes are discussed. The evidence indicates that young children with ASD benefit from EI, and their parents learn to implement child-responsive engagement strategies when a parent-coaching intervention is provided. Evidence supports combining parent-mediated and direct clinician-implemented intervention to maximize child developmental gains. Clinical practice recommendations are presented, based on the literature reviewed.
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12. Lee J, Lee SH, Lee B, Yang IJ, Chang GT. {{A survey of Korean medicine doctors’ clinical practice patterns for autism spectrum disorder: preliminary research for clinical practice guidelines}}. {BMC complementary and alternative medicine}. 2018; 18(1): 90.
BACKGROUND: The aim of this study was to investigate autism spectrum disorder (ASD) clinical practice patterns of Korean medicine doctors (KMDs) through questionnaire survey. METHODS: Questionnaires on Korean medicine (KM) treatment for ASD were distributed to 255 KMDs on December 5, 2016. The KMDs were psychiatrists, pediatricians, or general practitioners, who treated patients with ASD. The questionnaire covered items on treatment methods, aims of treatment, KM syndrome differentiation, diagnostic tools, and sociodemographic characteristics. Frequency analysis was conducted to describe the participants and their practices. RESULTS: A total 22.4% KMDs (n = 57/255) completed the questionnaires and 54 KMDs (21.2%) matched the inclusion criteria. The KMDs utilized herbal medicine (27.3%), body acupuncture (17.6%), scalp acupuncture (10.7%), moxibustion (6.4%), and Korean medical psychotherapy (5.9%) to treat ASD. The most commonly prescribed herbal medicine was Yukmijihwang-tang. Forty-eight (88.9%) KMDs responded that they used KM syndrome differentiation. ‘Organ system, Qi, Blood, Yin, Yang, Fluid and Humor diagnosis’ was most frequently used for syndrome differentiation. ASD was mainly diagnosed based on the fourth edition of the Diagnostic and Statistical Manual for Mental Disorders (DSM-IV) and DSM-5. CONCLUSIONS: The present study demonstrated the current status of KMDs’ diagnosis and treatment of ASD. In future clinical trials and clinical practice guidelines, these findings will provide meaningful information on the actual practice patterns of KMDs.
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13. Lewis AS, van Schalkwyk GI, Lopez MO, Volkmar FR, Picciotto MR, Sukhodolsky DG. {{An Exploratory Trial of Transdermal Nicotine for Aggression and Irritability in Adults with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Nicotinic acetylcholine receptors (nAChRs), particularly the alpha7 nAChR, are implicated in the pathophysiology of both autism spectrum disorder (ASD) and aggressive behavior. We explored the feasibility, tolerability, and preliminary efficacy of targeting nAChRs using transdermal nicotine to reduce aggressive symptoms in adults with ASD. Eight subjects were randomized in a double-blind crossover trial of 7 mg transdermal nicotine or placebo, each for 1 week. All participants tolerated nicotine treatment well. Five subjects contributed data to the primary outcome, Aberrant Behavior Checklist-Irritability (ABC-I) subscale change from baseline, which was improved by nicotine compared to placebo. Sleep ratings were also improved by nicotine and correlated with ABC-I improvement. These findings support further investigation of nAChR agonists for aggression and sleep in ASD.
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14. MacKay J, Leonard H, Wong K, Wilson A, Downs J. {{Respiratory morbidity in Rett syndrome: an observational study}}. {Dev Med Child Neurol}. 2018.
AIM: Respiratory illness is a major cause of morbidity and mortality in Rett syndrome. This study investigated respiratory morbidity and relationships with age, mutation type, feeding, and walking status. METHOD: Families registered with the InterRett database (n=399) provided data on the health of their child with Rett syndrome (age 2-57y). Hospital admissions because of lower respiratory tract infection (LRTI) over a 5-year exposure period were investigated by age, mutation type, enteral feeding, and walking status. RESULTS: A hospital admission for LRTI over the previous 5 years was reported for slightly more than one-fifth (21.4%) of individuals. Age and mutation groups did not seem to influence hospital admissions for LRTI but there was nearly twice the risk of an admission with enteral feeding (adjusted relative risk 1.79, 95% confidence interval [CI] 1.21-2.65). Compared with independent walking, being unable to walk was associated with a sixfold increased risk (adjusted relative risk 6.73, 95% CI 3.42-13.25), with assisted walking associated with an intermediate risk. INTERPRETATION: Beyond the influence of mutation type, walking seems to have protective effects on respiratory health. Further studies of exercise physiology in Rett syndrome and how this can be influenced by increasing activity levels are indicated. WHAT THIS PAPER ADDS: Rett syndrome is associated with increased vulnerability to lower respiratory tract infection (LRTI) requiring hospitalization. Enteral feeding is associated with a higher risk of hospital admission for LRTI. Assisted walking mitigates the risk of hospital admission for LRTI for those unable to walk independently.
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15. Mazzucchelli TG, Jenkins M, Sofronoff K. {{Building Bridges Triple P: Pilot study of a behavioural family intervention for adolescents with autism spectrum disorder}}. {Res Dev Disabil}. 2018; 76: 46-55.
BACKGROUND: Many parents of adolescents with autism spectrum disorder (ASD) report that they are ill-equipped to support their children’s behaviour, and these youths are known to be at substantially greater risk of emotional or behavioural problems compared to their typically developing peers. There is a need for an efficient and tailored parenting program for parents of adolescents with ASD that includes guidance on how to best support these youths’ development and well-being. AIMS: The current study examined the feasibility of Building Bridges Triple P (BBTP), an eight-week (11.5h) parenting program specifically targeted to the needs of parents of adolescents with a developmental disability. METHODS: A pretest-posttest single group design was used to evaluate the feasibility and acceptability of BBTP, and the potential of the program to have desired intervention effects, with nine parents of adolescents with ASD. RESULTS: After participating in BBTP, parents reported significant reductions in their adolescent’s behaviour problems, increased parenting confidence, decreased lax and overreactive responding, and decreased symptoms of depression and stress. These effects were mostly observed at post-test but were more pronounced at 3-month follow-up. Parents reported that they were satisfied with the content and format of BBTP. CONCLUSIONS: Results provide preliminary support for the feasibility and acceptability of BBTP, and that the program has a number of desired intervention effects.
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16. McGuire K, Siegel M. {{Psychiatric hospital treatment of youth with autism spectrum disorder in the United States: needs, outcomes, and policy}}. {International review of psychiatry (Abingdon, England)}. 2018: 1-6.
Children with Autism Spectrum Disorder (ASD) are admitted to inpatient psychiatric units at markedly high rates. As health insurance companies and government healthcare systems and regulators seek more evidence for healthcare outcomes, it is important to learn more about the effectiveness of psychiatric inpatient admissions for children with ASD to best inform decisions on provision and access to this level of care. Evidence for models of inpatient treatment for youth with ASD is presented, and key characteristics and consensus recommendations for care are discussed.
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17. Newcomb ET, Hagopian LP. {{Treatment of severe problem behaviour in children with autism spectrum disorder and intellectual disabilities}}. {International review of psychiatry (Abingdon, England)}. 2018: 1-14.
Children with autism spectrum disorder (ASD) and intellectual disabilities (ID) present with problem behaviour at rates disproportionately higher than their typically-developing peers. Problem behaviour, such as self-injury, aggression, pica, disruption, and elopement result in a diminished quality-of-life for the individual and family. Applied behaviour analysis has a well-established research base, detailing a number of assessment and treatment methods designed to address behaviour problems in children with ASD and ID. Although the variables that lead to the emergence of problem behaviour are not precisely known, those that are currently responsible for the maintenance of these problems can be identified via functional behaviour assessment, which is designed to identify events that occasion problem behaviour, consequences that maintain it, as well as other environmental factors that exert influence on the behaviour. Corresponding function-based treatment is implemented when environmental determinants are identified, with the aim of decreasing or eliminating problem behaviour, as well as teaching the individual to engage in more appropriate, alternative behaviour. In some cases, when problem behaviour is under the control of both environmental and biological variables, including psychiatric conditions, combining behavioural and pharmacological interventions is viewed as optimal, although there is limited empirical support for integrating these approaches.
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18. Pokorny FB, Bartl-Pokorny KD, Einspieler C, Zhang D, Vollmann R, Bolte S, Gugatschka M, Schuller BW, Marschik PB. {{Typical vs. atypical: Combining auditory Gestalt perception and acoustic analysis of early vocalisations in Rett syndrome}}. {Res Dev Disabil}. 2018.
BACKGROUND: Early speech-language development of individuals with Rett syndrome (RTT) has been repeatedly characterised by a co-occurrence of apparently typical and atypical vocalisations. AIMS: To describe specific features of this intermittent character of typical versus atypical early RTT-associated vocalisations by combining auditory Gestalt perception and acoustic vocalisation analysis. METHODS AND PROCEDURES: We extracted N=363 (pre-)linguistic vocalisations from home video recordings of an infant later diagnosed with RTT. In a listening experiment, all vocalisations were assessed for (a)typicality by five experts on early human development. Listeners’ auditory concepts of (a)typicality were investigated in context of a comprehensive set of acoustic time-, spectral- and/or energy-related higher-order features extracted from the vocalisations. OUTCOMES AND RESULTS: More than half of the vocalisations were rated as ‘atypical’ by at least one listener. Atypicality was mainly related to the auditory attribute ‘timbre’, and to prosodic, spectral, and voice quality features in the acoustic domain. CONCLUSIONS AND IMPLICATIONS: Knowledge gained in our study shall contribute to the generation of an objective model of early vocalisation atypicality. Such a model might be used for increasing caregivers’ and healthcare professionals’ sensitivity to identify atypical vocalisation patterns, or even for a probabilistic approach to automatically detect RTT based on early vocalisations.
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19. Sheppard DP, Bruineberg JP, Kretschmer-Trendowicz A, Altgassen M. {{Prospective memory in autism: theory and literature review}}. {The Clinical neuropsychologist}. 2018: 1-35.
OBJECTIVE: The current article set out to review all research conducted to date investigating prospective memory (PM) in autism. METHOD: All studies on PM in autism are first described, followed by a critical review and discussion of experimental findings within the multiprocess framework. PM in autism is then considered through an embodied predictive-coding account of autism. RESULTS: Overall, despite somewhat inconsistent methodologies, a general deficit in PM in autism is observed, with evidence mostly in line with the multiprocess framework. That is, for tasks that are high in cognitive and attentional demand (e.g. time-based tasks; event-based cues of non-focality or low salience) PM performance of autistic participants is impaired. Building upon previous work in predictive-coding, and the way in which expected precision modulates attention, we postulate mechanisms that underpin PM and the potential deficits seen in autism. Furthermore, a unifying predictive-coding account of autism is extended under embodied predictive-coding models, to show how a predictive-coding impairment accounts not only for characteristic autistic difficulties, but also for commonly found differences in autistic movement. CONCLUSIONS: We show how differences in perception and action, core to the development of autism, lead directly to problems seen in PM. Using this link between movement and PM, we then put forward a number of holistic, embodied interventions to support PM in autism.
