1. Aigner S, Heckel T, Zhang JD, Andreae LC, Jagasia R. {{Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish}}. {Psychopharmacology (Berl)}. 2013.
Autism spectrum disorder (ASD) is characterized by deficits in language development and social cognition and the manifestation of repetitive and restrictive behaviors. Despite recent major advances, our understanding of the pathophysiological mechanisms leading to ASD is limited. Although most ASD cases have unknown genetic underpinnings, animal and human cellular models of several rare, genetically defined syndromic forms of ASD have provided evidence for shared pathophysiological mechanisms that may extend to idiopathic cases. Here, we review our current knowledge of the genetic basis and molecular etiology of ASD and highlight how human pluripotent stem cell-based disease models have the potential to advance our understanding of molecular dysfunction. We summarize landmark studies in which neuronal cell populations generated from human embryonic stem cells and patient-derived induced pluripotent stem cells have served to model disease mechanisms, and we discuss recent technological advances that may ultimately allow in vitro modeling of specific human neuronal circuitry dysfunction in ASD. We propose that these advances now offer an unprecedented opportunity to help better understand ASD pathophysiology. This should ultimately enable the development of cellular models for ASD, allowing drug screening and the identification of molecular biomarkers for patient stratification.
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2. Ameis SH, Corbett-Dick P, Cole L, Correll CU. {{Decision making and antipsychotic medication treatment for youth with autism spectrum disorders: applying guidelines in the real world}}. {J Clin Psychiatry}. 2013; 74(10): 1022-4.
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3. Barker RM, Akaba S, Brady NC, Thiemann-Bourque K. {{Support for AAC Use in Preschool, and Growth in Language Skills, for Young Children with Developmental Disabilities}}. {Augment Altern Commun}. 2013; 29(4): 334-46.
Abstract Little is known about how AAC use in preschool may impact language development for children with complex communication needs (e.g., children with autism, cerebral palsy, Down syndrome, and other developmental disabilities). We developed two surveys (a) to describe children’s use of AAC in preschool classrooms, as well as the use of prompts and question asking, and augmented input by their communication partners; and (b) to describe teachers’ experience, training, and perceived support in providing AAC. We then examined the relationship between children’s experience of AAC, including the use of prompts, question asking, and augmented input by their partners, and the growth of receptive and expressive language for 71 children with developmental disabilities over a two-year period. The use of AAC by peers to provide augmented input was associated with stronger language growth; the use of prompting and question asking by teachers was associated with weaker language growth. Teachers reported that they received little training regarding ways to support a child’s use of AAC. Results suggest the need for further research on promoting AAC use at the preschool level, including research to promote peer interactions for AAC users.
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4. Broek JA, Brombacher E, Stelzhammer V, Guest PC, Rahmoune H, Bahn S. {{The need for a comprehensive molecular characterization of autism spectrum disorders}}. {Int J Neuropsychopharmacol}. 2013: 1-23.
Autism spectrum disorders (ASD) are a heterogeneous group of disorders which have complex behavioural phenotypes. Although ASD is a highly heritable neuropsychiatric disorder, genetic research alone has not provided a profound understanding of the underlying causes. Recent developments using biochemical tools such as transcriptomics, proteomics and cellular models, will pave the way to gain new insights into the underlying pathological pathways. This review addresses the state-of-the-art in the search for molecular biomarkers for ASD. In particular, the most important findings in the biochemical field are highlighted and the need for establishing streamlined interaction between behavioural studies, genetics and proteomics is stressed. Eventually, these approaches will lead to suitable translational ASD models and, therefore, a better disease understanding which may facilitate novel drug discovery efforts in this challenging field.
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5. Carroll D, Hallett V, McDougle CJ, Aman MG, McCracken JT, Tierney E, Arnold LE, Sukhodolsky DG, Lecavalier L, Handen BL, Swiezy N, Johnson C, Bearss K, Vitiello B, Scahill L. {{Examination of Aggression and Self-injury in Children with Autism Spectrum Disorders and Serious Behavioral Problems}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 57-72.
This study identified subtypes of aggression in a sample of 206 children with autism spectrum disorder (ASD) who participated in 2 risperidone trials. The narratives were derived from a parent interview about each child’s 2 most pressing problems. Five subtypes of aggression emerged: hot aggression only, cold aggression only, self-injurious behavior (SIB) only, aggression and SIB, and nonaggressive. All groups showed a high rate of positive response to risperidone with no differences across subtypes. These study findings extend understanding of aggression in ASD and may be useful to guide further study on biological mechanisms and individualized treatment in ASD.
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6. Doehring P, Reichow B, Palka T, Phillips C, Hagopian L. {{Behavioral approaches to managing severe problem behaviors in children with autism spectrum and related developmental disorders: a descriptive analysis}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 25-40.
Severe problem behaviors such as aggression, self-injury, and property destruction can result in injury, and require specialized and expensive treatment. This article reviews outcome research published since 1995 that used behavioral techniques to decrease severe problem behaviors among children and adolescents with autism spectrum disorder and/or intellectual disability. Many relatively simple interventions were reported to significantly reduce severe problem behavior, which offers hope for practitioners. Nonetheless, these studies also reveal a risk for injury and a need for specialized assessment and placement, careful tracking, and high-quality treatment that few agencies could likely replicate without increases in training and support.
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7. Ewing L, Pellicano E, Rhodes G. {{Using effort to measure reward value of faces in children with autism}}. {PLoS One}. 2013; 8(11): e79493.
According to one influential account, face processing atypicalities in autism reflect reduced reward value of faces, which results in limited attention to faces during development and a consequent failure to acquire face expertise. Surprisingly, however, there is a paucity of work directly investigating the reward value of faces for individuals with autism and the evidence for diminished face rewards in this population remains equivocal. In the current study, we measured how hard children with autism would work to view faces, using an effortful key-press sequence, and whether they were sensitive to the differential reward value of attractive and unattractive faces. Contrary to expectations, cognitively able children with autism did not differ from typically developing children of similar age and ability in their willingness to work to view faces. Moreover, the effort expended was strongly positively correlated with facial attractiveness ratings in both groups of children. There was also no evidence of atypical reward values for other, less social categories (cars and inverted faces) in the children with autism. These results speak against the possibility that face recognition difficulties in autism are explained by atypical reward value of faces.
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8. Harrop C, McConachie H, Emsley R, Leadbitter K, Green J. {{Restricted and Repetitive Behaviors in Autism Spectrum Disorders and Typical Development: Cross-Sectional and Longitudinal Comparisons}}. {J Autism Dev Disord}. 2013.
Restricted and repetitive behaviors (RRBs) are characteristic of autism spectrum disorders (ASD). However, compared to social and communicative impairments, less is known about their development, trajectory and etiology. This study explored RRBs in young children with ASD matched to typically developing (TD) children on non-verbal development. RRBs were coded from direct observation at three time points within 13 months of development. Children with ASD displayed higher frequency and greater diversity of RRBs at all time points, however RRBs were not unique to ASD and evident in the TD control group albeit at a reduced frequency. RRBs did not correlate with social and communicative impairments in the ASD group, suggesting dissociation between these domains.
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9. Hutchins TL, Prelock PA. {{Using communication to reduce challenging behaviors in individuals with autism spectrum disorders and intellectual disability}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 41-55.
This article describes the relationship between expressive communication impairments and common challenging behaviors in individuals with Autism Spectrum Disorder and Intellectual Disability. The communication challenges of individuals with Autism Spectrum Disorder/Intellectual Disability are described and several evidence-based intervention strategies are proposed to support communication so as to decrease challenging behaviors. Recommendations for practice are offered.
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10. Ikuta T, Shafritz KM, Bregman J, Peters BD, Gruner P, Malhotra AK, Szeszko PR. {{Abnormal cingulum bundle development in autism: A probabilistic tractography study}}. {Psychiatry Res}. 2013.
There is now considerable evidence that white matter abnormalities play a role in the neurobiology of autism. Little research has been directed, however, at understanding (a) typical white matter development in autism and how this relates to neurocognitive impairments observed in the disorder. In this study we used probabilistic tractography to identify the cingulum bundle in 21 adolescents and young adults with Autism Spectrum Disorder (ASD), and 21 age- and sex-matched healthy volunteers. We investigated group differences in the relationships between age and fractional anisotropy, a putative measure of white matter integrity, within the cingulum bundle. Moreover, in a preliminary investigation, we examined the relationship between cingulum fractional anisotropy and executive functioning using the Behavior Rating Inventory of Executive Function (BRIEF). The ASD participants demonstrated significantly lower fractional anisotropy within the cingulum bundle compared to the typically developing volunteers. There was a significant group-by-age interaction such that the ASD group did not show the typical age-associated increases in fractional anisotropy observed among healthy individuals. Moreover, lower fractional anisotropy within the cingulum bundle was associated with worse BRIEF behavioral regulation index scores in the ASD group. The current findings implicate a dysregulation in cingulum bundle white matter development occurring in late adolescence and early adulthood in ASD, and suggest that greater disturbances in this trajectory are associated with executive dysfunction in ASD.
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11. Jing W, Fang J. {{Brief Report: Do Children with Autism Gather Information from Social Contexts to Aid Their Word Learning?}}. {J Autism Dev Disord}. 2013.
Typically developing (TD) infants could capitalize on social eye gaze and social contexts to aid word learning. Although children with autism disorder (AD) are known to exhibit atypicality in word learning via social eye gaze, their ability to utilize social contexts for word learning is not well understood. We investigated whether verbal AD children exhibit word learning ability via social contextual cues by late childhood. We found that AD children, unlike TD controls, failed to infer the speaker’s referential intention through information gathered from the social context. This suggests that TD children can learn words in diverse social pragmatic contexts in as early as toddlerhood whereas AD children are still unable to do so by late childhood.
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12. King BH, de Lacy N, Siegel M. {{Psychiatric assessment of severe presentations in autism spectrum disorders and intellectual disability}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 1-14.
Children with autism spectrum and related disorders and intellectual disability are not protected from the experience of psychiatric illnesses. Many factors can contribute to exacerbation of existing behavioral symptoms or to the emergence of new psychiatric problems. The psychiatric assessment must thus take into account a range of possible etiologic or contributory factors. The approach outlined in this article highlights the value of assessing 4 broad domains, including diagnostic (genetic) factors, medical considerations, developmental influences, and environmental factors. Examples of how the consideration of each of these domains may inform the diagnostic formulation are highlighted.
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13. Latham SO, Stockman IJ. {{Effect of Augmented Sensorimotor Input on Learning Verbal and Nonverbal Tasks Among Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013.
Thirty-four children, with autism spectrum disorders, ages 4-14 years, were matched and randomly assigned to one of two conditions for learning a novel juice-making task and producing two novel words about the event. Seventeen sighted children were manually guided to perform the task and tactually prompted during imitated productions of novel words for the event. Their matched controls heard the novel words and watched the juice-making task being performed. Performances on four verbal and two nonverbal measures right after instruction and at 24-48 h post-instruction, revealed higher scores for the « hands-on », participation than observation group on both verbal and nonverbal tasks. This study offers a paradigm for exploring the instructional advantage of enhanced participatory experience.
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14. Lubetsky MJ, Handen BL, Lubetsky M, McGonigle JJ. {{Systems of care for individuals with autism spectrum disorder and serious behavioral disturbance through the lifespan}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 97-110.
Individuals with Autism Spectrum Disorder present with unique characteristics, and the interventions designed to address associated challenging behaviors must be highly individualized to best meet their needs and those of their families. This article reviews systems of care to support the child, adolescent, or adult with Autism Spectrum Disorder and/or Intellectual Disability. The review describes mental health/behavioral health services, Intellectual Disability and other support systems, and the systems involved in a child and adolescent’s life and transition to adulthood. The types of systems and services, as well as barriers, are delineated with a brief listing of Web sites and references.
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15. Mazefsky CA, White SW. {{Emotion regulation: concepts & practice in autism spectrum disorder}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 15-24.
The purpose of this article is to describe emotion regulation, and how emotion regulation may be compromised in patients with autism spectrum disorder (ASD). This information may be useful for clinicians working with children with ASD who exhibit behavioral problems. Suggestions for practice are provided.
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16. McGonigle JJ, Venkat A, Beresford C, Campbell TP, Gabriels RL. {{Management of agitation in individuals with autism spectrum disorders in the emergency department}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 83-95.
Individuals with autism spectrum disorder (ASD) presenting with acute agitation in emergency departments (ED) during a crisis situation present both diagnostic and treatment challenges for ED personnel, families, caregivers, and patients seeking treatment. This article describes the challenges that individuals with ASD face when receiving treatment in crisis and emergency settings. Additionally, this article provides information for emergency physicians, ED personnel, and crisis response teams on a systematic, minimally restrictive approach when assessing and providing treatment to patients with ASD presenting with acute agitation in ED settings.
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17. McNellis CA, Harris T. {{Residential treatment of serious behavioral disturbance in autism spectrum disorder and intellectual disability}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 111-24.
For children diagnosed with an autism spectrum disorder and/or intellectual disability, the co-occurrence of serious behavioral disturbance can pose significant health and safety risks, impede normal learning and development, and put great stress on family systems. The complexity and seriousness of the clinical concerns often tax the existing service and funding systems. Although residential treatment has been criticized as an outdated and ineffective mode of treatment, newer models of residential treatment that combine specialized comprehensive services, evidence-based interventions, intensive family support and training, and treatment overlap with community providers can offer an effective and efficient treatment option.
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18. Pop AS, Gomez-Mancilla B, Neri G, Willemsen R, Gasparini F. {{Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development}}. {Psychopharmacology (Berl)}. 2013.
RATIONALE: Fragile X syndrome (FXS) is considered the leading inherited cause of intellectual disability and autism. In FXS, the fragile X mental retardation 1 (FMR1) gene is silenced and the fragile X mental retardation protein (FMRP) is not expressed, resulting in the characteristic features of the syndrome. Despite recent advances in understanding the pathophysiology of FXS, there is still no cure for this condition; current treatment is symptomatic. Preclinical research is essential in the development of potential therapeutic agents. OBJECTIVES: This review provides an overview of the preclinical evidence supporting metabotropic glutamate receptor 5 (mGluR5) antagonists as therapeutic agents for FXS. RESULTS: According to the mGluR theory of FXS, the absence of FMRP leads to enhanced glutamatergic signaling via mGluR5, which leads to increased protein synthesis and defects in synaptic plasticity including enhanced long-term depression. As such, efforts to develop agents that target the underlying pathophysiology of FXS have focused on mGluR5 modulation. Animal models, particularly the Fmr1 knockout mouse model, have become invaluable in exploring therapeutic approaches on an electrophysiological, behavioral, biochemical, and neuroanatomical level. Two direct approaches are currently being investigated for FXS treatment: reactivating the FMR1 gene and compensating for the lack of FMRP. The latter approach has yielded promising results, with mGluR5 antagonists showing efficacy in clinical trials. CONCLUSIONS: Targeting mGluR5 is a valid approach for the development of therapeutic agents that target the underlying pathophysiology of FXS. Several compounds are currently in development, with encouraging results.
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19. Siegel M, Gabriels RL. {{Psychiatric hospital treatment of children with autism and serious behavioral disturbance}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 125-42.
Children with autism spectrum disorder are psychiatrically hospitalized much more frequently than children in the general population. Hospitalization occurs primarily because of externalizing behaviors and is associated with behavioral disturbance, impaired emotion regulation, and psychiatric comorbidity. Additionally, a lack of practitioner and/or administrator training and experience with this population poses risks for denial of care by third-party payers or treatment facilities, inadequate treatment, extended lengths of stay, and poor outcomes. Evidence and best practices for the inpatient psychiatric care of this population are presented. Specialized treatment programs universally rely on multidisciplinary approaches, including behaviorally informed interventions.
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20. Siegel M, King BH. {{Autism and developmental disorders: management of serious behavioral disturbance}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): xiii-xv.
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21. Smith LE, Greenberg JS, Mailick MR. {{The family context of autism spectrum disorders: influence on the behavioral phenotype and quality of life}}. {Child Adolesc Psychiatr Clin N Am}. 2014; 23(1): 143-55.
This article reports the findings from a longitudinal program of research examining the bidirectional influences of the family environment on the behavioral phenotype of autism, and describes a newly developed family psychoeducation program, titled Transitioning Together, designed to reduce family stress, address behavior problems, and improve the overall quality of life of adolescents with autism and their families. A case study is presented that illustrates how Transitioning Together helps reduce family stress and improve the overall quality of the family environment. The article concludes with a discussion of directions for future research on best practices in working with families of children, adolescents, and adults with autism.
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22. Strunz S, Dziobek I, Roepke S. {{[Comorbid Psychiatric Disorders and Differential Diagnosis of Patients with Autism Spectrum Disorder without Intellectual Disability.]}}. {Psychother Psychosom Med Psychol}. 2013.
Autism spectrum conditions (ASC) without intellectual disability are often diagnosed late in life. Little is known about co-occurring psychia-tric disorders and differential diagnosis of ASC in adulthood, particularly with regard to personality disorders. What kind of comorbid psychia-tric disorders occur in ASC? Which are the most prevalent differential diagnoses in a sample of patients who seek autism specific clinical diagnostics? 118 adults who were referred with a presumed diagnosis of autistic disorder, were diagnosed with autism specific instruments and the prevalence of further psychiatric disorders was investigated. 59 (50%) fulfilled the criteria of ASC. 36% of the individuals with ASC fulfilled also criteria for a DSM-IV axis-I psychiatric disorder. Affective disorders (24%) and social phobia (14%) were the most prevalent comorbid disorders. The most frequent differential diagnoses were depression, social phobia, paranoid, avoidant and narcissistic personality disorder.
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23. Tseng A, Bansal R, Liu J, Gerber AJ, Goh S, Posner J, Colibazzi T, Algermissen M, Chiang IC, Russell JA, Peterson BS. {{Using the Circumplex Model of Affect to Study Valence and Arousal Ratings of Emotional Faces by Children and Adults with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2013.
The Affective Circumplex Model holds that emotions can be described as linear combinations of two underlying, independent neurophysiological systems (arousal, valence). Given research suggesting individuals with autism spectrum disorders (ASD) have difficulty processing emotions, we used the circumplex model to compare how individuals with ASD and typically-developing (TD) individuals respond to facial emotions. Participants (51 ASD, 80 TD) rated facial expressions along arousal and valence dimensions; we fitted closed, smooth, 2-dimensional curves to their ratings to examine overall circumplex contours. We modeled individual and group influences on parameters describing curve contours to identify differences in dimensional effects across groups. Significant main effects of diagnosis indicated the ASD-group’s ratings were constricted for the entire circumplex, suggesting range constriction across all emotions. Findings did not change when covarying for overall intelligence.
