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People with disabilities living in rural and remote areas often have insufficient access to the allied health services that they require. Telepractice has emerged as a promising solution, yet little is known about whether it is possible to deliver quality disability therapy services via technology or of the considerations required to achieve positive outcomes. Multiple case studies using mixed methods were conducted to achieve in-depth examination of the telepractice services received by four children with disabilities and their families living in rural and remote Australia. Data analysis indicated that telepractice services were highly acceptable to parents and teachers and supported children to achieve positive outcomes for a variety of functional goals related to speech-language pathology and occupational therapy. Findings indicated that quality telepractice can deliver services consistent with contemporary disability expectations. Of critical importance were the skills of allied health professionals to facilitate person-centred practice and strong therapeutic relationships with children, parents, and other stakeholders to achieve positive outcomes for children. Our findings indicate that telepractice is a legitimate option for therapy service delivery that has the potential to provide people with disabilities increased choice and control over the services they receive. [ABSTRACT FROM AUTHOR]

The Motor and Vocal Imitation Assessment (MVIA) was developed to evaluate a proposed hierarchy of imitation skills that could be used to formulate an experimentally-validated instructional guide for intervention. Imitation performance was assessed via the MVIA in 30 typically developing (TD) children and 30 children with Autism Spectrum Disorder (ASD). Children with ASD and TD demonstrated similar patterns of imitation. Children had higher performance scores in object imitation, followed by body, then vocal, and lastly facial imitation. The results revealed a pattern of imitation performance that provides the basis for an experimentally-validated instructional guide for intervention. [ABSTRACT FROM AUTHOR]

Individuals with autism spectrum disorder (ASD) have higher rates of co-occurring diagnoses and use of psychotropic medication prescriptions than people with other developmental disabilities. Few studies have examined these trends in samples of people with intellectual and developmental disabilities (IDD) with and without ASD. Using a random sample of 11,947 adult IDD service users from 25 states, co-occurring diagnoses and psychotropic medication use were compared for those with and without ASD. Regardless of diagnosis, individuals with ASD had higher percentages of psychotropic medication use. Controlling for co-occurring condition, age, gender, and ID level, a diagnosis of ASD predicted number of medications used. Further research is needed to understand why individuals with ASD are prescribed more medication, more often, than similarly functioning groups of individuals without ASD. [ABSTRACT FROM AUTHOR]

Objectives: Positive Behavioral Support (PBS) is considered the treatment framework of choice for children with intellectual and developmental disabilities (IDD) at risk of behavior that challenges. PBS demands stakeholder engagement, yet little research has explored goal formation in this context for caregivers of children with IDD. Methods: We used Talking Mats and semi-structured interviews to support 12 caregivers of children with IDD who displayed behaviours that challenge, to develop goals for PBS. Interviews covered quality of life for caregivers and their child, adaptive and challenging aspects of child behavior, and aspects of caregiver's own behavior. Results: Caregivers were able to form individualised and meaningful goals in relation to all domains, demonstrating rich insight into personal needs and needs of their child. The process of forming goals was psychologically and emotionally complex given prior experiences and needs of participants but effectively supported by the interview method. Conclusions: We conclude that goal formation in PBS requires careful consideration and structuring but has the potential to support effective working relationships and ensure assessment and intervention is aligned with the needs and aspirations of families. [ABSTRACT FROM AUTHOR]

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations. [ABSTRACT FROM AUTHOR]

Whether to initiate or to withhold Renal Replacement Therapy (RRT) in children with severe developmental disability (DD) remains a topic of intense debate. The present study investigated the opinion of professionals on this difficult issue and proposed a checklist with guiding questions for decision-making. Clinicians affiliated to different organizations involved in pediatric nephrology worldwide were invited to respond to a web-based survey. This survey focused on the collection of demographic data of the respondents together with their opinion concerning the decision-making regarding RRT in a particular case and for children with severe DD in general. A total of 286 professionals responded to the survey. Sixty-six percent supported initiating RRT in the child of the case report, with pre-emptive transplantation being the preferred modality. Important arguments pro RRT initiation in children with severe DD in general were parental preference, decrease of suffering, and improvement of survival and quality of life. Important contraindications included low IQ, severe comorbidities, and inability of the patient to take medication or for the family to provide sufficient care.Conclusion: The present study presents an inventory on the opinions of health care professionals involved in RRT in children regarding the treatment of children with DD and assists in the decision-making process by identifying important medical and psychosocial arguments for initiating or withholding RRT in severe DD patients. What is Known: •Renal Replacement Therapy (RRT) in children with severe developmental disability (DD) is a topic of intense debate. •Previous studies on the opinion of professionals mainly focused on the use of IQ as an argument in the decision-making whether or not starting RRT. What is New: •The present study investigated the opinion of professionals with regard to considering initiation or withholding RRT in children with severe DD and identified medical and psychosocial arguments playing a role in the decision-making process. •Based on these arguments, a checklist with guiding questions for decision-making is proposed. [ABSTRACT FROM AUTHOR]

Few interventions exist for school-aged minimally verbal children with autism spectrum disorder (ASD). Even though play skills are associated with children’s production of language, few studies have focused on play for minimally verbal children. Fifty-eight minimally verbal children with ASD received a naturalistic developmental behavioral intervention. Children were randomized to receive a speech generating device in the context of the intervention or not. Children in both conditions improved in play skills at exit. Children demonstrated an increase in play skills in proximal (sessions) and distal (during blind assessment) contexts. Minimally verbal children with ASD can improve their play skills within a targeted intervention. Increases in symbolic play were associated with increases in expressive language skills. [ABSTRACT FROM AUTHOR]

This study evaluated the preliminary effects of an early intervention program for parents and children at-risk. In this study, a sample of 40 children were randomly assigned to a 9-months intervention program (intervention group, n = 20) or remained in usual practice conditions (control group, n = 20). The intervention involved group dynamics with children in pre-school and individual work sessions with the parents and the children at home. A repeated measures design 2 × 2 was used to test the program effects on parenting practices (Maltreatment Questionnaire) and on children’s mental and social development (Griffiths Mental Development Scales). Results revealed that the program had a positive impact mostly on parenting practices, decreasing physical and psychological abuse (d = −1.01), physical neglect (d = −0.71) and lack of supervision (d = −0.48), and also on measures of cognitive development (i.e., hearing and language; d = 0.31). The program reinforces the importance and effectiveness of attunement intervention programs for parents and for children. [ABSTRACT FROM AUTHOR]

Parent’s awareness that their child’s development is not proceeding as they expected can create an unanticipated transition from being a parent to becoming the parent of a child with a developmental diagnosis. While many transition theories contribute to our understanding of how parents’ experience change over time, many traditional transition models are not family-centered and do not provide a strengths-based perspective of parents’ experiences during this transition. This paper describes the process of theory derivation to develop a strengths-based theory of parental transformation (STPT). We used the theory of well-being of refugee women experiencing cultural transition to gain insights into parents’ experiences related to their child’s diagnosis. We propose that the STPT addresses a gap in the literature by situating the diagnostic process within a strengths’ based framework that aligns with contemporary perspectives regarding disability. The STPT emphasizes understanding parents’ experiences and needs in ways that promote personal growth to support the parent and child. [ABSTRACT FROM AUTHOR]

Obsessive-compulsive disorder (OCD) is prevalent among youth with autism spectrum disorder (ASD). Cognitive-behavioral therapy (CBT) with ASD-specific modifications has support for treating OCD in this population; however, use of intensive CBT in youth with ASD and severe OCD has not been tested. The current study examined the preliminary effectiveness of an individualized intensive CBT protocol for OCD in adolescents with ASD. Nine adolescents (aged 11-17 years) completed a regimen of intensive CBT (range 24-80 daily sessions) incorporating exposure with response prevention (ERP). Treatment materials, language and techniques were modified in accordance with evidence-based findings for this population. Seven of nine participants (78%) were treatment responders, and large treatment effects (d = 1.35-2.58) were obtained on primary outcomes (e.g., obsessive-compulsive symptom severity). Preliminary findings suggest that an intensive CBT approach for OCD is effective among adolescents with ASD. [ABSTRACT FROM AUTHOR]

Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others. Considering the variability of the clinical symptoms, one autistic individual can be severely affected in communication while others can speak perfectly, sometimes having a vocabulary above average in early childhood. The same variability can be seen in other clinical symptoms, thus the 'spectrum' can vary from severe to mild. Induced pluripotent stem cell technology has been used to model several neurological diseases, including syndromic and non-syndromic autism. We discuss how modeling the central nervous system cells in a dish may help to reach a better understanding of ASD pathology and variability, as well as personalize their treatment. [ABSTRACT FROM AUTHOR]

This article contributes to the sociology of science and technology through the study of language use and social interaction. As an analysis of how clinicians examine children to diagnose developmental disabilities, it involves the sociology of testing and standardization, with our particular focus on Autism Spectrum Disorders. Whereas previous research has concentrated primarily on the outcomes of testing, such as diagnostic trends, little has been written about the tests by which these trends are produced. Our analysis shows how psychometric tests operate to shape the interactive environments (those established by the test instrument, scoring metrics, etc.). Additionally, the interactional environment (the practices by which protocols are implemented as clinician and child do the test) exerts an influence on performance. In short, the interactive and interactional environment may affect the measurement of ability and difference in children. We propose that the emphasis of clinical tests on measuring second-order, abstract competence-or the ability to produce general answers to theoretical questions-may obscure various kinds of first-order, concrete competence and 'autistic intelligence' a child displays. As forms of first-order, concrete competence, we examine orientation in situ to testing history, narrative combinations of test items, and using filler words for test item answers. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) has a major impact on the development and social integration of affected individuals and is the most heritable of psychiatric disorders. An increase in the incidence of ASD cases has prompted a surge in research efforts on the underlying neuropathologic processes. We present an overview of current findings in neuropathology studies of ASD using two investigational approaches, postmortem human brains and ASD animal models, and discuss the overlap, limitations, and significance of each. Postmortem examination of ASD brains has revealed global changes including disorganized gray and white matter, increased number of neurons, decreased volume of neuronal soma, and increased neuropil, the last reflecting changes in densities of dendritic spines, cerebral vasculature and glia. Both cortical and non-cortical areas show region-specific abnormalities in neuronal morphology and cytoarchitectural organization, with consistent findings reported from the prefrontal cortex, fusiform gyrus, frontoinsular cortex, cingulate cortex, hippocampus, amygdala, cerebellum and brainstem. The paucity of postmortem human studies linking neuropathology to the underlying etiology has been partly addressed using animal models to explore the impact of genetic and non-genetic factors clinically relevant for the ASD phenotype. Genetically modified models include those based on well-studied monogenic ASD genes ( NLGN3, NLGN4, NRXN1, CNTNAP2, SHANK3, MECP2, FMR1, TSC1/2), emerging risk genes ( CHD8, SCN2A, SYNGAP1, ARID1B, GRIN2B, DSCAM, TBR1), and copy number variants (15q11-q13 deletion, 15q13.3 microdeletion, 15q11-13 duplication, 16p11.2 deletion and duplication, 22q11.2 deletion). Models of idiopathic ASD include inbred rodent strains that mimic ASD behaviors as well as models developed by environmental interventions such as prenatal exposure to sodium valproate, maternal autoantibodies, and maternal immune activation. In addition to replicating some of the neuropathologic features seen in postmortem studies, a common finding in several animal models of ASD is altered density of dendritic spines, with the direction of the change depending on the specific genetic modification, age and brain region. Overall, postmortem neuropathologic studies with larger sample sizes representative of the various ASD risk genes and diverse clinical phenotypes are warranted to clarify putative etiopathogenic pathways further and to promote the emergence of clinically relevant diagnostic and therapeutic tools. In addition, as genetic alterations may render certain individuals more vulnerable to developing the pathological changes at the synapse underlying the behavioral manifestations of ASD, neuropathologic investigation using genetically modified animal models will help to improve our understanding of the disease mechanisms and enhance the development of targeted treatments. [ABSTRACT FROM AUTHOR]

Early identification of autism facilitates referral for early intervention services, shown to be effective in enhancing parent-child interaction as well as adaptive behavior, communication, and socialization. Traditional hallmarks for the diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as stereotypic or repetitive behavioral patterns. Research during the past decade suggests that developmental motor delays during early childhood may also be important predictors of this difficult-to-make diagnosis. The purpose of this short communication is to describe specific research findings about developmental motor delays and other neuromotor concerns that may contribute to the early diagnosis of ASD and thus hasten referral for early therapeutic intervention.Conclusion: In that there is reasonable consensus that motor delays during the first year of life may represent a prodrome of ASD, pediatricians should not rule out the possibility of ASD in infants with concerning motor behaviors. What is Known: • Early identification of autism facilitates referral for early intervention services. • Traditional hallmarks for diagnosis of autism spectrum disorder (ASD) include deficits in social communication and social interaction as well as repetitive patterns of behavior. What is New: • Recent research suggests that developmental motor delays during early childhood may also be important predictors of ASD. • Pediatricians should consider the possibility of ASD in infants with motor delays or other concerning motor behaviors. [ABSTRACT FROM AUTHOR]

Epilepsy is a major risk factor for autism spectrum disorder (ASD) and complicates clinical manifestations and management of ASD significantly. Tuberous sclerosis complex (TSC), caused by TSC1 or TSC2 mutations, is one of the medical conditions most commonly associated with ASD and has become an important model to examine molecular pathways associated with ASD. Previous research showed reversal of autism-like social deficits in Tsc1 and Tsc2 mouse models by mammalian target of rapamycin (mTOR) inhibitors. However, at least 70 % of individuals with TSC also have epilepsy, known to complicate the severity and treatment responsiveness of the behavioural phenotype. No previous study has examined the impact of seizures on neurocognitive reversal by mTOR inhibitors. Adult Tsc2 (Eker)-rats express social deficits similar to Tsc2 mice, with additive social deficits from developmental status epilepticus (DSE). DSE was induced by intraperitoneal injection with kainic acid at post-natal days P7 and P14 ( n = 12). The experimental group that modelled TSC pathology carried the Tsc2 (Eker)-mutation and was challenged with DSE. The wild-type controls had not received DSE ( n = 10). Four-month-old animals were analysed for social behaviour (T1), then treated three times during 1 week with 1 mg/kg everolimus and finally retested in the post-treatment behavioural analysis (T2). In the experimental group, both social interaction and social cognition were impaired at T1. After treatment at T2, behaviour in the experimental group was indistinguishable from controls. The mTOR inhibitor, everolimus, reversed social deficit behaviours in the Tsc2 haploinsufficiency plus DSE animal model to control levels. [ABSTRACT FROM AUTHOR]

Young children with neurodevelopmental disorders such as autism spectrum disorders (ASD) and Rett syndrome often experience severe communication impairments. This study examined the efficacy of parent-implemented communication assessment and intervention with remote coaching via telehealth on the acquisition of early communication skills of three young children with ASD (2) and Rett syndrome (1). Efficacy of the intervention was evaluated using single-case experimental designs. First, functional assessment was used to identify idiosyncratic/potentially communicative responses and contexts for each child. Next, parents implemented functional communication training (FCT). All of the children acquired the targeted communication responses. The findings support the efficacy of telehealth as a service delivery model to coach parents on intervention strategies for their children's early communication skills. [ABSTRACT FROM AUTHOR]

Background: A lack of gold standard treatment for autism spectrum disorders (ASD), no clear ASD management guidelines, and lack of evidence-based pharmacological interventions other than aripiprazole and risperidone elevate the risk of off-label prescribing and adverse effects among individuals with ASD, more so among adults. Objective: The aim of this study was to identify and compare the types of prescription drug use, rates of polypharmacy, and characteristics associated with polypharmacy among adults with and without ASD in a retrospective cross-sectional analysis of a three-state Medicaid Analytic eXtract database (2000-2008). Methods: Adults aged 22-64 years with ASD (ICD9-CM code: 299.xx) were propensity score-matched to 'no ASD' controls by age, sex, and race. General polypharmacy (≥6 unique classes of prescription drugs in a year) and psychotropic polypharmacy (≥3 unique prescription drug classes of psychotropic medications within a 90-day period) were the main study outcomes. Chi-square tests for rates, t tests for mean number of claims, and multivariate logistic regressions for likelihood of prescription drug use and polypharmacy were run. Results: Annually, almost 75% of adults with ASD had >20 prescription drug claims compared with 33% of adults without ASD. Around 85% of adults with ASD used at least one psychotropic drug class compared with 42% of adults without ASD. Highly common psychotropics were antipsychotics (66% vs 20%), anticonvulsants (59% vs 20%), and anxiolytics/hypnotics/sedatives (21% vs 11%). Other than psychotropics, many adults with ASD used medical prescription drugs such as antimicrobials (47%), dermatologic agents (48%), respiratory agents (38%), gastrointestinal agents (31%), alternative medications (25%), antiparkinsonian agents (22.6%), antihyperlipidemics/statins (7.3%), and immunologics (2.0%). Rates of general (48% vs 32%) and psychotropic polypharmacy (19% vs 6%) were significantly higher in the ASD group. Conclusion: Prescription drug use and polypharmacy rates among adults with ASD are substantially higher than those in an age-, sex-, and race-matched cohort of adults without ASD. Adults with ASD frequently use therapeutic treatments other than psychotropics. Healthcare providers, who usually report low confidence in treating patients with ASD, should play an active role in constant monitoring of prescription drug use patterns and patient response to interventions. Prescribers and caregivers are encouraged to make decisions after weighing the benefits and risks associated with a pharmacological treatment. Further investigations into the common use of any alternative treatments that can affect a patient's response to core treatments should also be conducted. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a developmental disorder characterized by impairments in social and communication abilities, as well as by restricted and repetitive behaviors. The BTBR T Itpr3 (BTBR) mice have emerged as a well characterized and widely used mouse model of a range of ASD-like phenotype, showing deficiencies in social behaviors and unusual ultrasonic vocalizations as well as increased repetitive self-grooming. However, the inherited neurobiological changes that lead to ASD-like behaviors in these mice are incompletely known and still under active investigation. The aim of this study was to further evaluate the structure and neurotransmitter release of the glutamatergic synapse in BTBR mice. C57BL/6J (B6) mice were used as a control strain because of their high level of sociability. The important results showed that the evoked glutamate release in the cerebral cortex of BTBR mice was significantly lower than in B6 mice. And the level of vesicle docking-related protein Syntaxin-1A was reduced in BTBR mice. However, no significant changes were observed in the number of glutamatergic synapse, level of synaptic proteins, density of dendritic spine and postsynaptic density between BTBR mice and B6 mice. Overall, our results suggest that abnormal vesicular glutamate activity may underlie the ASD relevant pathology in the BTBR mice. [ABSTRACT FROM AUTHOR]

Background: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are frequently overlapping neurodevelopmental disorders. Individuals in whom the disorders are comorbid show more severe impairment because of deficits in the processing of social situations, adaptive functioning, and executive control than individuals with either disorder alone. Objective: This open-label pilot study aimed to evaluate and compare the efficacy and tolerability of risperidone and aripiprazole for treating ADHD symptoms in patients with both ASD and ADHD over the course of 24 weeks of treatment. Methods: Patients ( n = 44) were randomly assigned to start treatment with risperidone (22 patients) or aripiprazole (22 patients). Children were evaluated before starting treatment (T0), and after 12 weeks (T1) and 24 weeks (T2) of treatment. At each visit, specific psychiatric clinical scales were administered to assess the efficacy of the two drugs. Results: The mean age was 8.4 ± 2.9 years in the aripiprazole group and 7.8 ± 2.3 years in the risperidone group. A total of 37 children (29 boys and 8 girls) completed the study (18 in the aripiprazole group and 19 in the risperidone group). Aripiprazole and risperidone appeared to have similar benefits in terms of efficacy and tolerability, although there were slight differences between the two drugs. Both groups showed a significant improvement in ADHD symptoms after 24 weeks of treatment (ADHD Rating Scale, Conners Parent Rating Scale-Hyperactivity, and Clinical Global Improvement-Severity Scale). No significant difference between the two drugs on any parameters at 24 weeks were found. Prolactin levels were decreased in the aripiprazole group. Both drugs were well tolerated, with no serious adverse events detected. Conclusions: Our study confirms the efficacy of both aripiprazole and risperidone in ameliorating ADHD symptoms of children also presenting with ASD. [ABSTRACT FROM AUTHOR]

Objective: The study investigated whether baseline plasma oxytocin (OXT) concentrations might moderate the effects of nasally administered OXT on social orienting. Methods: Thirty-one males with Autism spectrum disorder (ASD) and thirty healthy males participated in a double-blind placebo-controlled crossover trial. After administration of the compound, participants were viewing pictures from the International Affective Picture System that represented a systematic variation of pleasant, unpleasant and neutral scenes with and without humans. The outcome measures were a cardiac evoked response (ECR) and a cortical evoked long latency parietal positivity (LPP). Results: Males with ASD had significantly higher plasma baseline levels than the controls. In the absence of general treatment effects, higher baseline concentrations were found to be associated with larger treatment effects, particularly in the group of males with ASD. Higher post-treatment plasma OXT concentrations were found to be associated with smaller treatment effects and larger orienting responses in the placebo situation in the group of controls. Conclusions: We interpret our findings as suggesting that it is the central availability of OXT determining how much of the nasally administered OXT will become centrally absorbed and how much of it will become released into the bloodstream. [ABSTRACT FROM AUTHOR]

This article is our life time experience in conceptualizing and systematically developing Child Development Centre (CDC) Kerala in the last 25 years, from a research project to a national training centre in child and adolescent development and premarital counseling. CDC Kerala's major contribution was in creating a 'conceptual framework' of a valid link between childhood disability, low birth weight, adolescent girls' nutrition and fetal onset adult lifestyle diseases. It all started with a randomized controlled trial (RCT) proving beyond doubt that early stimulation is effective in improving the neurodevelopmental status of high risk babies at one and two years and the same cohort was followed-up in detail at 5, 13, 16, 19 and 24 completed years. The process of establishing CDC Kerala is being presented under (i) clinical child development, (ii) adolescent care counseling, (iii) young adults and premarital counseling and (iv) institution building. [ABSTRACT FROM AUTHOR]

Rationale: Pharmacological intervention for autism spectrum disorder (ASD) is an important addition to treatment, yet currently available agents target co-morbid psychiatric concerns, such as aggression and irritability. Propranolol, a beta-adrenergic antagonist with anxiolytic effects, has been shown to improve verbal fluency and working memory in adults and adolescents with ASD in single-dose challenges. Objectives: The present pilot study explores the acute effects of propranolol on a measure of conversational reciprocity in this population. We also examined whether autonomic activity and anxiety moderate or mediate response to the drug, given relationships between these variables and ASD, as well as the drug's effects. Methods: In a within-subject crossover design, 20 individuals with ASD received a single dose of propranolol or placebo during two sessions in a double-blinded, counterbalanced manner. After drug administration, participants performed a conversational reciprocity task by engaging in a short conversation with the researcher. Measurements of autonomic activity and anxiety were obtained before and after drug administration. Results: Propranolol significantly improved performance on the conversational reciprocity task total [ d = 0.40] and nonverbal communication domain scores when compared to the placebo condition. However, neither autonomic activity nor anxiety was significantly associated with drug response. Conclusions: Acute propranolol administration improved conversational reciprocity in ASD. Further exploration of these preliminary findings, as well as other potential treatment response predictors, with serial doses is warranted. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) continues to grow in prevalence each passing year. As more children are diagnosed, it makes sense that the emerging adult and adult population with ASD also will continue to grow. Although the body of research is quite large for children with ASD, the literature for emerging adults with ASD is sparse in comparison. The current study aimed to extend existing literature further by beginning to explore the realm of emerging adulthood. Specifically, the study investigated the presence of comorbid psychiatric symptoms in emerging adults who also presented with ASD symptoms as measured by the Adult Self-Report (Rescorla and Achenbach in The Achenbach System of Empirically Based Assessment (ASEBA) for ages 18 to 90 years. The use of psychological testing for treatment planning and outcomes assessment: volume 3: instruments for adults, 3rd edn. Lawrence Erlbaum Associates, Mahwah, pp 115-152, 2004). Emerging adults were categorized as having normal, mild, moderate, or severe levels of ASD symptoms and were compared for the presence of comorbid psychiatric symptoms. Overall, results suggested that emerging adults who presented with greater ASD symptom severity were more likely to experience the presence of additional comorbid symptoms. [ABSTRACT FROM AUTHOR]

The Contactin Associated Protein- like 2 ( CNTNAP2) gene has been discussed to be associated with different symptoms of autism spectrum disorders (ASDs) and other neurodevelopmental disorders. We aimed to elucidate the genetic association of CNTNAP2 within high functioning ASD (HFA), focusing on autism specific symptoms and reducing intelligence related factors. Furthermore, we compared our findings conducting a meta-analysis in patients with ASD and HFA only. A case-control association study was performed for HFA (HFA, n = 105; controls, n = 133). Moreover, we performed a family-based association study (DFAM) analysis (HFA, n = 44; siblings, n = 57). Individuals were genotyped for the two most frequently reported single nucleotide polymorphisms (SNPs) in the CNTNAP2 gene (rs2710102, rs7794745). Furthermore, a meta-analysis using the MIX2 software integrated our results with previously published data. A significant association for the carriers of the T-allele of the rs7794745 with HFA was found in the case-control sample [OR = 1.547; (95 % CI 1.056-2.266); p = 0.025]. No association could be found by DFAM with any of the CNTNAP2 SNPs with HFA. The meta-analysis of both SNPs did not show a significant association with either ASD or with HFA. Overall, including case-control, sibs, and meta-analysis, we could not detect any significant association with the CNTNAP2 gene and HFA. Our results point in the direction that CNTNAP2 may not play a major role in HFA, but rather seems to have a significance in neurodevelopmental disorders or in individuals displaying intellectual delays. [ABSTRACT FROM AUTHOR]

The use of robots in therapy for children with autism spectrum disorder (ASD) raises issues concerning the ethical and social acceptability of this technology and, more generally, about human-robot interaction. However, usually philosophical papers on the ethics of human-robot-interaction do not take into account stakeholders' views; yet it is important to involve stakeholders in order to render the research responsive to concerns within the autism and autism therapy community. To support responsible research and innovation in this field, this paper identifies a range of ethical, social and therapeutic concerns, and presents and discusses the results of an exploratory survey that investigated these issues and explored stakeholders' expectations about this kind of therapy. We conclude that although in general stakeholders approve of using robots in therapy for children with ASD, it is wise to avoid replacing therapists by robots and to develop and use robots that have what we call supervised autonomy. This is likely to create more trust among stakeholders and improve the quality of the therapy. Moreover, our research suggests that issues concerning the appearance of the robot need to be adequately dealt with by the researchers and therapists. For instance, our survey suggests that zoomorphic robots may be less problematic than robots that look too much like humans. [ABSTRACT FROM AUTHOR]

Objective: To identify and compare caregiver burden and expressed emotion (EE) in adult substance use disorder (SUD) patients with and without co-occurring attention deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). To examine possible differences in correlations between caregiver burden and EE across patient groups. Design and Methods: Cross-sectional study with measures of perceived burden (Involvement Evaluation Questionnaire: IEQ), subjective stress (General Health Questionnaire: GHQ) and perceptions of expressed emotion (Level of Expressed Emotion: LEE) in informal caregivers for patients with SUD, SUD+ADHD or SUD+ASD. Findings: No differences in caregiver burden or expressed emotion when caregivers for patients with SUD were compared to caregivers for patients with SUD+ADHD. A moderate but non-significant difference for caregivers of patients with SUD versus SUD+ASD, which disappeared when the number of contact hours between patient and caregiver for the SUD only group was controlled for. The IEQ sum scores also substantially correlated with the LEE sum scores. Conclusion: Informal caregivers for patients with only SUD show higher levels of burden and EE than informal caregivers for patients with SUD and a co-occurring ASD. This difference was largely explained by the higher number of contact hours between patient and caregiver in the SUD only group. [ABSTRACT FROM AUTHOR]

Rationale: Accumulating evidence implicates the nicotinic cholinergic system in autism spectrum disorder (ASD) pathobiology. Neuropathologic studies suggest that nicotinic acetylcholine (ACh) receptor (nAChR) subtypes are altered in brain of autistic individuals. In addition, strategies that increase ACh, the neurotransmitter for nicotinic and muscarinic receptors, appear to improve cognitive deficits in neuropsychiatric disorders and ASD. Objective: The aim of this study is to examine the role of the nicotinic cholinergic system on social and repetitive behavior abnormalities and exploratory physical activity in a well-studied model of autism, the BTBR T Itpr3/J (BTBR) mouse. Methods: Using a protocol known to up-regulate expression of brain nAChR subtypes, we measured behavior outcomes before and after BTBR and C57BL/6J (B6) mice were treated (4 weeks) with vehicle or nicotine (50, 100, 200, or 400 μg/ml). Results: Increasing nicotine doses were associated with decreases in water intake, increases in plasma cotinine levels, and at the higher dose (400 μg/ml) with weight loss in BTBR mice. At lower (50, 100 μg/ml) but not higher (200, 400 μg/ml) doses, nicotine increased social interactions in BTBR and B6 mice and at higher, but not lower doses, it decreased repetitive behavior in BTBR. In the open-field test, nicotine at 200 and 400 μg/ml, but not 100 μg/ml compared with vehicle, decreased overall physical activity in BTBR mice. Conclusions: These findings support the hypotheses that the nicotinic cholinergic system modulates social and repetitive behaviors and may be a therapeutic target to treat behavior deficits in ASD. Further, the BTBR mouse may be valuable for investigations of the role of nAChRs in social deficits and repetitive behavior. [ABSTRACT FROM AUTHOR]

Pharmacologic treatments targeting specific molecular mechanisms relevant for autism spectrum disorder (ASD) are beginning to emerge in early drug development. This article reviews the evidence for the disruption of glutamatergic neurotransmission in animal models of social deficits and summarizes key pre-clinical and clinical efforts in developing pharmacologic interventions based on modulation of glutamatergic systems in individuals with ASD. Understanding the pathobiology of the glutamatergic system has led to the development of new investigational treatments for individuals with ASD. Specific examples of medications that modulate the glutamatergic system in pre-clinical and clinical studies are described. Finally, we discuss the limitations of current strategies and future opportunities in developing medications targeting the glutamatergic system for treating individuals with ASD. [ABSTRACT FROM AUTHOR]

A multiple-baseline across behaviors design was employed to investigate the effects of a video modeling intervention incorporating real and animated models and a chaining procedure, on increasing independent toileting skills in two young boys diagnosed with ASD. Results showed this intervention was effective in reducing the number of prompts required for the boys to walk to the toilet, undress, sit on and urinate in the toilet, redress and flush. Gains were maintained over a 4 week period and generalized to other settings. Both participants could independently complete the toileting sequence post-intervention. The current study contributes to the small body of research literature regarding toilet training and video modeling, providing evidence for a rapid and effective toilet training method, and introduced the use of animation to overcome obvious practical limitations in depicting a sensitive private event such as toileting. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) affects 1 in 68 children in the US and is distinguished by core deficits in social interactions. Developing pharmacologic treatments for ASD is complicated by clinical and genetic heterogeneity. Although pharmacological treatments have not been shown to be effective in treating the core symptoms of ASD (i.e., social deficits), there is evidence that the burden of emotional and behavioral problems can be reduced with pharmacotherapy. Numerous randomized clinical trials of treatments for the core ASD deficits have been conducted; however, most have provided inconclusive results due to the substantial variation in treatment response. Variation also exists in the considerable metabolic side effects of many of the current treatments. Some of this variation may be explained by differences in the underlying genetic pathways. Exploiting the link between genetic heterogeneity and clinical variation associated with behavioral problems may provide an opportunity for targeted treatment of ASD. In this review, we summarize the recent findings from pharmacogenomics studies of ASD and suggest further how understanding how genetic liability modifies the effect of drugs may present an opportunity to address the challenges of personalized medicine in autism. [ABSTRACT FROM AUTHOR]

Both the population of siblings of youth with developmental disabilities (DDs) and the popularity of clinical services designed for these youth are on the rise. However, the research base for such services has yet to be evaluated. A systematic review of studies on intervention and support for siblings of youth with DDs was conducted in order to evaluate the current state of the literature and provide recommendations for research and practice. Sixteen articles were selected and reviewed in terms of their experimental design, participant characteristics, measurement, intervention or support group protocol, outcomes, and dissemination of findings. Results indicate substantial variability in both methodology and outcomes across sibling-focused intervention and support group studies, which put the overall effects and utility of these services into question. Recommendations for future research are outlined, with a focus on advancing a more systematic and careful approach to asking and effectively answering questions about siblings, their families, and meaningful services for both. [ABSTRACT FROM AUTHOR]

Autism spectrum disorders (ASDs) are characterized by phenotypic and genetic heterogeneity. Our analysis of functional networks perturbed in ASD suggests that both truncating and nontruncating de novo mutations contribute to autism, with a bias against truncating mutations in early embryonic development. We find that functional mutations are preferentially observed in genes likely to be haploinsufficient. Multiple cell types and brain areas are affected, but the impact of ASD mutations appears to be strongest in cortical interneurons, pyramidal neurons and the medium spiny neurons of the striatum, implicating cortical and corticostriatal brain circuits. In females, truncating ASD mutations on average affect genes with 50-100% higher brain expression than in males. Our results also suggest that truncating de novo mutations play a smaller role in the etiology of high-functioning ASD cases. Overall, we find that stronger functional insults usually lead to more severe intellectual, social and behavioral ASD phenotypes. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a pervasive developmental disorder characterized by deficits in social interaction, language, stereotyped behaviors, and restricted range of interests. In previous studies low frequency repetitive transcranial magnetic stimulation (rTMS) has been used, with positive behavioral and electrophysiological results, for the experimental treatment in ASD. In this study we combined prefrontal rTMS sessions with electroencephalographic (EEG) neurofeedback (NFB) to prolong and reinforce TMS-induced EEG changes. The pilot trial recruited 42 children with ASD (~14.5 years). Outcome measures included behavioral evaluations and reaction time test with event-related potential (ERP) recording. For the main goal of this exploratory study we used rTMS-neurofeedback combination (TMS-NFB, N = 20) and waitlist (WTL, N = 22) groups to examine effects of 18 sessions of integrated rTMS-NFB treatment or wait period) on behavioral responses, stimulus and response-locked ERPs, and other functional and clinical outcomes. The underlying hypothesis was that combined TMS-NFB will improve executive functions in autistic patients as compared to the WTL group. Behavioral and ERP outcomes were collected in pre- and post-treatment tests in both groups. Results of the study supported our hypothesis by demonstration of positive effects of combined TMS-NFB neurotherapy in active treatment group as compared to control WTL group, as the TMS-NFB group showed significant improvements in behavioral and functional outcomes as compared to the WTL group. [ABSTRACT FROM AUTHOR]

We compared how quickly four boys with developmental disability/delay learned to use manual signing (MS), picture exchange (PE), and a speech-generating device (SGD) to request the continuation of toy play. Opportunities to choose to use MS, PE, and SGD were included to determine if the boys showed a preference for using one of these options. Follow-up sessions occurred at 12, 15, and 18 months post-intervention. With intervention, three of the four participants learned to use each option, but one child only learned to use PE. Trials to criterion across children ranged from 22 to 28 for the SGD, from 12 to 60 for PE, and from 21 to 64 trials for MS. For the three participants who reached criterion with each AAC system, maintenance results were best for PE and SGD. Preference assessments during follow-up showed that participants most often chose the SGD, indicating a preference for that option. The findings suggest there may be value in assessing a child's preference for different AAC options as part of the post-intervention follow-up process. [ABSTRACT FROM AUTHOR]

The present investigation sought to explore initial psychometric properties of the PEAK Relational Training System-Module 1: Direct Training for children with autism. Thirteen children diagnosed with autism or related disorders were exposed to an initial assessment designed to evaluate skill deficits within their repertoire, the Peabody Picture Vocabulary Test, and the Illinois Early Learning Standards Test. Additionally, staff performances were evaluated on reliability of delivery of the PEAK assessment. Results yielded significant positive correlations among the obtained PEAK assessment scores, the Peabody and the Standards assessments. Implications for evidence-based discrete trial training curricula are discussed. [ABSTRACT FROM AUTHOR]

Fetal alcohol spectrum disorders (FASD) impact 2-5 % of the US population and are associated with life-long cognitive and behavioral impairments. Individuals with FASD have high rates of secondary conditions, including mental health problems, school disruptions, and trouble with the law. This study focuses on systems-level barriers that contribute to secondary conditions and interfere with prevention and treatment. Using a phenomenological methodology, semi-structured interviews and focus groups were conducted with parents of children with FASD and service providers. Data were analyzed using a framework approach. Participants emphasized the pervasive lack of knowledge of FASD throughout multiple systems. This lack of knowledge contributes to multi-system barriers including delayed diagnosis, unavailability of services, and difficulty qualifying for, implementing, and maintaining services. FASD is a major public health problem. Broad system changes using a public health approach are needed to increase awareness and understanding of FASD, improve access to diagnostic and therapeutic services, and create responsive institutional policies to prevent secondary conditions. These changes are essential to improve outcomes for individuals with FASD and their families and facilitate dissemination of empirically supported interventions. [ABSTRACT FROM AUTHOR]

Trial-based functional analysis of challenging behavior is a variation of traditional functional analysis and is gaining attention in empirical research. The purpose of this paper is to systematically review peer-reviewed studies which implemented trial-based functional analyses of challenging behavior. Systematic searches of electronic databases, journals, citations of a seminal study, and reference lists resulted in 13 studies included in this review. Studies were summarized in terms of (a) participant characteristics, (b) target challenging behavior(s), (c) TBFA characteristics, (d) TBFA outcomes, and (e) a description of the function-based intervention applied (if applicable). Across these 13 studies, 36 full trial-based functional analyses were conducted, 47 participants were included, and 14 topographies of challenging behavior were assessed. Trial-based functional analyses were implemented in classroom and home settings and were implemented by teachers, service providers, or researchers. Trial-based functional analysis appears to be a promising means of assessing challenging behavior in applied settings and deserves continued attention in empirical research. [ABSTRACT FROM AUTHOR]

Evaluation of evidence-based treatments is important for adolescents and adults with autism spectrum disorders (ASD) given the increasing number of interventions available and the prevalence of ASD. In this study, we sought to evaluate the effectiveness of behavioral interventions for this population by conducting a meta-analysis of published single-case research studies. A new metric for calculating effect size in single-case research, nonoverlap of all pairs, was utilized. In addition, the certainty of evidence, a system to evaluate research methodology, was applied to the reviewed articles. Forty-three articles were identified in the study. Results suggested that the behavioral interventions in the areas of academic skills, adaptive skills, problem behavior, phobic avoidance, social skills, and vocational skills have medium-to-strong effect sizes. Medium-to-high confidence in findings was noted for 81 % of the studies in the meta-analysis; however, three-fourths of the reviewed studies did not include treatment integrity, which may affect the ability to draw conclusions about the effectiveness of the interventions. Overall, the evidence is promising for the use of behavioral interventions for this population; however, additional research and dissemination are needed to fill the gap between research and practice in order for practitioners to meet the increasing demand as individuals with ASD age. [ABSTRACT FROM AUTHOR]

Rationale: Previous studies on psychotropic drugs prescribing in autism spectrum disorder (ASD) were from the USA or the UK. However, these studies may not be generalizable to other countries. There is a need to understand the extent of psychopharmacological prescribing for ASD treatment at a multinational level to identify areas of prescribing which lack evidence. Methods: We used the IMS Prescribing Insights database to investigate psychotropic drugs prescribing patterns for ASD treatment in children and adults in 2010-2012. Data were obtained from Europe (France, Germany, Italy, Spain and UK), South America (Mexico and Brazil), North America (Canada and USA) and Asia (Japan). Results: North American countries have the highest prescription rates, followed by the European and South American countries. Prescribing rates were higher in children compared to adults in individual countries. The most commonly prescribed drug for ASD was risperidone in young people (except in UK and Japan). In the UK, methylphenidate (34 %) was the most commonly prescribed for young people and haloperidol (44.1 %) in Japan. In adults, the most commonly prescribed drug class was antipsychotics and particularly risperidone (thioridazine and ziprasidone were the most prescribed antipsychotics in Brazil and USA, respectively). Conclusion: There is variation in medication prescription for people with ASD among countries, which may be attributable to diagnostic criteria, clinical guidelines or health care systems. However, there is a lack of evidence of efficacy and safety for many psychotropic drugs prescribed for people with ASD. Research is needed to bridge the evidence gaps in prescribing. [ABSTRACT FROM AUTHOR]

Introduction: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by core differences and impairments in social behavioral functioning. There are no approved medications for improving social cognition and behavior in ASD, and the underlying mechanisms needed to discover safer, more effective medications are unclear. Discussion: In this review, we diagram the basic neurocircuitry governing social behaviors in order to provide a neurobiological framework for the origins of the core social behavioral symptoms of ASD. In addition, we discuss recent technological innovations in research tools that provide unprecedented observation of cellular morphology and activity deep within the intact brain and permit the precise control of discrete brain regions and specific cell types at distinct developmental stages. Conclusions: The use of new technologies to reveal the neural circuits underlying social behavioral impairments associated with ASD is advancing our understanding of the brain changes underlying ASD and enabling the discovery of novel and effective therapeutic interventions. [ABSTRACT FROM AUTHOR]

Rationale: Autism and related pervasive developmental disorders (PDD) are characterized by impairments in social interaction and communication, restricted interests, and repetitive and stereotyped patterns of behavior. Individuals with PDD frequently display irritability and disruptive behaviors including tantrums, self-injurious behavior, and aggression. Atypical antipsychotics are currently the most efficacious pharmacological interventions available for treatment of irritability associated with PDD. Objectives: This article aims to review the body of literature pertaining to the use of atypical antipsychotics in the treatment of patients with PDD. Methods: A PubMed literature search was conducted using the following key words: autism, pervasive developmental disorders, atypical antipsychotics, risperidone, aripiprazole, quetiapine, ziprasidone, olanzapine, clozapine, paliperidone, iloperidone, asenapine, and lurasidone. Search terms were limited to English language, human subjects, and publication from 1999 to present. Relevant references from identified articles were also reviewed. Results: The efficacy and tolerability of risperidone and aripiprazole for the treatment of irritability in autism have been established with multi-site, randomized, controlled trials. Studies supporting the use of other atypical antipsychotics are either limited in scope or less robust in their findings, though newer agents such as ziprasidone and paliperidone show promise. Conclusions: Atypical antipsychotics are currently first-line pharmacological agents for the treatment of irritability and associated behaviors in children with PDD. Further placebo-controlled studies are warranted to characterize the efficacy and tolerability of the majority of these medications. There is also a need for the development of novel, targeted drugs with more favorable long-term side effect profiles. [ABSTRACT FROM AUTHOR]

Fragile X syndrome (FXS) is the leading monogenic cause of intellectual disability and autism. The disease is a result of lack of expression of the fragile X mental retardation protein. Brain tissues of patients with FXS and mice with FMRP deficiency have shown an abnormal dendritic spine phenotype. We investigated the dendritic spine length and density of hippocampal CA1 pyramidal neurons in 2-, 10-, and 25-week-old Fmr1 knockout (KO). Next, we studied the effects of long-term treatment with an mGluR5 antagonist, AFQ056/Mavoglurant, on the spine phenotype in adult Fmr1 KO mice. We observed alterations in the spine phenotype during development, with a decreased spine length in 2-week-old Fmr1 KO mice compared with age-match wild-type littermates, but with increased spine length in Fmr1 KO mice compared with 10- and 25-week-old wild-type controls. No difference was found in spine density at any age. We report a rescue of the abnormal spine length in adult Fmr1 KO mice after a long-term treatment with AFQ056/Mavoglurant. This finding suggests that long-term treatment at later stage is sufficient to reverse the structural spine abnormalities and represents a starting point for future studies aimed at improving treatments for FXS. [ABSTRACT FROM AUTHOR]

Rationale: Autism spectrum disorders (ASDs) affect 1 % of children, having significant impact on health and social outcomes. Psychotropic medication use by individuals with ASD in the USA increased over time, and polypharmacy occurred in >50 % of those prescribed. In the UK, no psychotropic drugs are approved in ASDs, and little is known about patterns of pharmacological treatment in the ASD population and associated co-morbidities. Methods: We used The Health Improvement Network, a nationally representative primary care database, to assess the prevalence of ASD diagnoses, psychotropic drug prescribing and neuropsychiatric co-morbidities of 0-24 year olds between 1992 and 2008. Results: ASD prevalence increased 65-fold from 0.01 % (1992) to 0.50 % (2008). Psychotropic drugs were prescribed to 29 % (1,619/5,651) of the ASD cohort; the most prescribed drugs were sleep medication (9.7 % of prescribed patients), psychostimulants (7.9 %) and antipsychotics (7.3 %). More patients were given psychostimulants and sleep medications over time from 1.5-6.3 % and 2.2-5.9 % respectively. Thirty-seven per cent of the cohort had ≥1 record of a neuropsychiatric co-morbidity, the most common being developmental difficulties and learning disabilities (12.6 %), behavioural, conduct and personality disorders (11.1 %) and attention deficit hyperactivity disorder (7.5 %). Conclusions: British physicians are more conservative in prescribing practice than American colleagues. However, use of psychostimulants and antipsychotics is much higher in those with ASD than in the general population. Polypharmacy was seen in 34 % of prescribed patients in 2008. Additional studies examining use, efficacy, and long-term safety of antipsychotics and psychostimulants in autistic individuals are warranted. [ABSTRACT FROM AUTHOR]

Although recent studies have shown that catatonia can occur in patients with autism spectrum disorders (ASDs), the overlap of the behavioral features between these disorders raises many diagnostic challenges. In fact, in clinical practice it is common to misinterpret catatonic symptoms, including mutism, stereotypic speech, repetitive behaviors, echolalia, posturing, mannerisms, purposeless agitation and rigidity, as features of ASDs. The current medical treatment algorithm for catatonia in ASDs recommends the use of benzodiazepines. Electroconvulsive therapy (ECT) is indicated when patients are unresponsive, or insufficiently responsive, to benzodiazepines. Other pharmacological options are also described for the treatment of catatonic patients resistant to benzodiazepines and ECT, and there is evidence for the effectiveness of a psychological treatment, co-occurring with medical treatments, in order to support the management of these patients. In this article we provide a summary of studies exploring catatonia in ASDs and our clinical experience in the management and treatment of this syndrome through the presentation of three brief case studies. Moreover, we review the mechanisms underlying symptoms of catatonia in ASDs, as well as the diagnostic challenges, providing an outline for the management and treatment of this syndrome in this clinical population. [ABSTRACT FROM AUTHOR]

Variability in attention towards direct gaze and child-directed speech may contribute to heterogeneity of clinical presentation in toddlers with autism spectrum disorders (ASD). To evaluate this hypothesis, we clustered sixty-five 20-month-old toddlers with ASD based on their visual responses to dyadic cues for engagement, identifying three subgroups. Subsequently, we compared social, language, and adaptive functioning of these subgroups at 3 years of age. The cluster displaying limited attention to social scenes in general exhibited poor outcome at 3 years; the cluster displaying good attention to the scene and to the speaker's mouth was verbal and high functioning at 3 years. Analysis of visual responses to dyadic cues may provide a clinically meaningful approach to identifying early predictors of outcome. [ABSTRACT FROM AUTHOR]

The contribution of neuroimmune functioning and brain-derived neurotrophic factor (BDNF) to functional dysregulation in autism spectrum disorder was assessed in 29 patients under treatment in two specialized centers of Basilicata (Chiaromonte and Matera), Southern Italy, through analysis of serum levels of cytokines and BDNF. Elevated levels of the pro-inflammatory cytokine, including interleukin-1, interleukin-6, interleukin-12, interleukin-23, tumor necrosis factor-α and BDNF were observed, regardless of age and gender. Comparisons were made with age- and gender-related healthy controls. The present findings reinforce current notions regarding immunoexcitotoxic mechanisms contributing to the pathophysiology of autistic disorder. [ABSTRACT FROM AUTHOR]

The rising rates of autism spectrum disorder (ASD) and the lack of effective medications to treat its core symptoms have led to an increased sense of urgency to identify therapies for this group of neurodevelopmental conditions. Developing drugs for ASD, however, has been challenging because of a limited understanding of its pathophysiology, difficulties in modelling the disease in vitro and in vivo, the heterogeneity of symptoms, and the dearth of prior experience in clinical development. In the past few years these challenges have been mitigated by considerable advances in our understanding of forms of ASD caused by single-gene alterations, such as fragile X syndrome and tuberous sclerosis. In these cases we have gained insights into the pathophysiological mechanisms underlying these conditions. In addition, they have aided in the development of animal models and compounds with the potential for disease modification in clinical development. Moreover, genetic studies are illuminating the molecular pathophysiology of ASD, and new tools such as induced pluripotent stem cells offer novel possibilities for drug screening and disease diagnostics. Finally, large-scale collaborations between academia and industry are starting to address some of the key barriers to developing drugs for ASD. Here, we propose a conceptual framework for drug discovery in ASD encompassing target identification, drug profiling and considerations for clinical trials in this novel area. [ABSTRACT FROM AUTHOR]

EEG-biofeedback has been reported to reduce symptoms of autism spectrum disorders (ASD) in several studies. However, these studies did not control for nonspecific effects of EEG-biofeedback and did not distinguish between participants who succeeded in influencing their own EEG activity and participants who did not. To overcome these methodological shortcomings, this study evaluated the effects of EEG-biofeedback in ASD in a randomized pretest-posttest control group design with blinded active comparator and six months follow-up. Thirty-eight participants were randomly allocated to the EEG-biofeedback, skin conductance (SC)-biofeedback or waiting list group. EEG- and SC-biofeedback sessions were similar and participants were blinded to the type of feedback they received. Assessments pre-treatment, post-treatment, and after 6 months included parent ratings of symptoms of ASD, executive function tasks, and 19-channel EEG recordings. Fifty-four percent of the participants significantly reduced delta and/or theta power during EEG-biofeedback sessions and were identified as EEG-regulators. In these EEG-regulators, no statistically significant reductions of symptoms of ASD were observed, but they showed significant improvement in cognitive flexibility as compared to participants who managed to regulate SC. EEG-biofeedback seems to be an applicable tool to regulate EEG activity and has specific effects on cognitive flexibility, but it did not result in significant reductions in symptoms of ASD. An important finding was that no nonspecific effects of EEG-biofeedback were demonstrated. [ABSTRACT FROM AUTHOR]

Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences ( CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), all having a role during brain development. We further looked for 5′UTR trinucleotide repeats in FMR1 and FMR2 genes. No mutation or polymorphism co-segregating with dyslexia was found. This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus. We reduced the previously described interval from 6.8 (DXS1227-DXS8091) to 4 Mb also disclosing a higher LOD score. [ABSTRACT FROM AUTHOR]

We conducted a review of the literature pertaining to Functional Communication Training (FCT) and the principles and tactics for programming generalization. Ten studies of FCT and generalization were identified, analyzed, and summarized using the framework provided by Stokes and Osnes (Behavior Therapist 20:337-355, ) that detailed principles and tactics programming generalization. In addition to the tactic of recruiting natural consequences which is inherent to FCT, several studies evaluated additional strategies for programming generalization during FCT including modification of maladaptive consequences, reinforcement of occurrences of generalization, training sufficient stimulus exemplars, programming common physical stimuli, and programming common social stimuli. The results of these studies suggest that a) FCT and the tactic of recruiting natural consequences is sometimes sufficient to produce generalization but not in every case, and b) generalization of the treatment effects of FCT can be enhanced through the use of specific tactics for programming generalization. Overall, the results of this review suggest that a relatively small number of studies of FCT have systematically evaluated generalization. Thus, future research should continue to evaluate specific strategies for programming generalization with FCT. This includes combining procedures such as recruiting natural consequences with other strategies outlined by Stokes and Osnes. [ABSTRACT FROM AUTHOR]