BACKGROUND: Improvisational methods of music therapy have been increasingly applied in the treatment of individuals with autism spectrum disorder (ASD) over the past decades in many countries worldwide.
OBJECTIVE: This study aimed at developing treatment guidelines based on the most important common characteristics of improvisational music therapy (IMT) with children affected by ASD as applied across various countries and theoretical backgrounds.
METHODS: After initial development of treatment principle items, a survey among music therapy professionals in 10 countries and focus group workshops with experienced clinicians in three countries were conducted to evaluate the items and formulate revised treatment guidelines. To check usability, a treatment fidelity assessment tool was subsequently used to rate therapy excerpts.
RESULTS: Survey findings and feedback from the focus groups corroborated most of the initial principles for IMT in the context of children with ASD. Unique and essential principles include facilitating musical and emotional attunement, musically scaffolding the flow of interaction, and tapping into the shared history of musical interaction between child and therapist. Raters successfully used the tool to evaluate treatment adherence and competence.
CONCLUSIONS: Summarizing an international consensus about core principles of improvisational approaches in music therapy for children with ASD, these treatment guidelines may be applied in diverse theoretical models of music therapy. They can be used to assess treatment fidelity, and may be applied to facilitate future research, clinical practice, and training.

Despite their range and complexity, adherence to Scottish Intercollegiate Guidelines Network guideline for the diagnosis and assessment of autism spectrum disorders (ASD) was shown to be high within child development and specialist diagnostic clinics serving a geographical cohort of children diagnosed under the age of 7 years. A retrospective analysis of comprehensive clinical notes demonstrated that the recommended discretionary use of structured history instruments was increased after medical training (p = 0.003). 56% (51/90) of children received the diagnosis of ASD at their initial specialist appointment. 51% underwent the recommended discretionary structured observational instrument. This further assessment was more likely to be required for older children in the reaudited group (p = 0.001). The implications for service capacity planning when delivering best practice recommendations are discussed.

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On April 2013 experts in the field of autism from Italy and Israel convened in Jerusalem to discuss and finalize clinical recommendations for early diagnosis and intervention in Autism Spectrum Disorders (ASDs). In this paper, we summarize the results of this Italian-Israeli consensus conference. ASDs constitute a class of severe and heterogeneous neurodevelopmental conditions caused by atypical brain development beginning during early prenatal life, reflecting many genetic, neurobiological and environmental influences. The first clinical signs of ASDs begin to be evident in children between 12 and 18 months of age, often after a period of relatively typical postnatal development. Recent longitudinal studies reveal substantial diversity in developmental trajectories through childhood and adolescence. Some intervention approaches have been demonstrated to be effective in improving core symptoms of ASDs, even if the heterogeneity and developmental nature of the disorder make it implausible that only one specific treatment will be best for all children with ASDs. More randomized control trials (RCTs) on early intervention are needed to identify the most effective strategies and provide the most efficient allocation of resources during the critical early intervention time period. Future research should focus on linking biological phenotypes with specific genotypes, thus establishing a foundation for the development of diagnostic screening tools and individualization of treatments.

The autism spectrum disorders are a collective of conditions that have in common impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased dramatically over the past two decades. In addition, increased attention has been paid to these conditions by both lay and professional groups. These trends have resulted in an increase in the number of referrals to clinical geneticist for the evaluation of persons with autism spectrum disorders. The primary roles of the geneticist in this process are to define etiology when possible, to provide genetic counseling, and to contribute to case management. In deciding on the appropriate evaluation for a particular patient, the geneticist will consider a host of factors: (i) ensuring an accurate diagnosis of autism before proceeding with any investigation; (ii) discussing testing options, diagnostic yields, and family investment before proceeding with an evaluation; (iii) communicating and coordinating with the patient-centered medical home (PCMH); (iv) assessing the continuously expanding and evolving list of available laboratory-testing modalities in light of the published literature; (v) recognizing the expanded phenotypes of well-described syndromic and metabolic conditions that overlap with autism spectrum disorders; and (vi) defining an individualized evaluation plan based on the unique history and clinical features of a given patient. The guidelines in this paper have been developed to assist the clinician in the consideration of these factors. It updates the original publication from 2008.Genet Med 2013:15(5):399-407.

OBJECTIVE: To use the findings of a systematic review of scientific evidence to develop consensus guidelines on nonmedical interventions that address cognitive function and core deficits in children with autism spectrum disorders (ASDs) and to recommend priorities for future research.
METHODS: The guidelines were developed by a Technical Expert Panel (TEP) consisting of practitioners, researchers, and parents. A systematic overview of research findings was presented to the TEP; guideline statements were drafted, discussed, debated, edited, reassessed, and presented for formal voting.
RESULTS: The strength of evidence of efficacy varied by intervention type from insufficient to moderate. There was some evidence that greater intensity of treatment (hours per week) and greater duration (in months) led to better outcomes. The TEP agreed that children with ASD should have access to at least 25 hours per week of comprehensive intervention to address social communication, language, play skills, and maladaptive behavior. They agreed that applied behavioral analysis, integrated behavioral/developmental programs, the Picture Exchange Communication System, and various social skills interventions have shown efficacy. Based on identified gaps, they recommend that future research focus on assessment and monitoring of outcomes, addressing the needs of pre/nonverbal children and adolescents, and identifying the most effective strategies, dose, and duration to improve specific core deficits.
CONCLUSIONS: The creation of treatment guidelines and recommendations for future research represents an effort by leading experts to improve access to services for children with ASDs while acknowledging that the research evidence has many gaps.

OBJECTIVE: To achieve consensus regarding important clinical, translational, and health services research questions for the field of developmental-behavioral pediatrics (DBP).
METHODS: Twenty-seven developmental-behavioral pediatricians, 16 psychologists, and 12 parents participated in a 3-round Delphi survey. Participation was 100% in Rounds I and III and 96% in Round II. In Round I, each participant suggested up to 10 research questions important for DBP in the next 5 years. In Round II, participants rated the importance of each unique question on a 9-point Likert scale. Questions were rated as consensus important questions if they had a median score of 7 and the 25th percentile was at least 6 or the coefficient of variation ≤30 (suggesting consensus). Questions were rated as potentially important if they had a median of 7, but a coefficient of variation >30 or if specific stakeholder group ratings suggested importance. After providing participants the Round II results, potentially important questions were rated a second time (Round III).
RESULTS: In Round I, 216 unique research questions were identified. In Round II, 29 of these questions met the criteria for a consensus important question and 60 questions were rated as potentially important. In Round III, 10 additional questions were rated as consensus important questions. Of the 39 consensus important questions, 20 were efficacy or comparative effectiveness studies and 40% related to autism spectrum disorders.
CONCLUSIONS: This Delphi process identified a set of high priority clinical, translational, and health services research topics for DBP that can guide research to advance the field and improve care and outcomes for children with DBP conditions.

Genetic testing is recommended for patients with ASD; however specific recommendations vary by specialty. American Academy of Pediatrics and American Academy of Neurology guidelines recommend G-banded karyotype and Fragile X DNA. The American College of Medical Genetics recommends Chromosomal Microarray Analysis (CMA). We determined the yield of CMA (N = 85), karyotype (N = 119), and fragile X (N = 174) testing in a primary pediatrics autism practice. We found twenty (24%) patients with abnormal CMA results (eight were clinically significant), three abnormal karyotypes and one Fragile X syndrome. There was no relationship between CMA result and cognitive level, seizures, dysmorphology, congenital malformations or behavior. We conclude that CMA should be the clinical standard in all specialties for first tier genetic testing in ASD.

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The Academy of Medicine Singapore (AMS) and the Ministry of Health (MOH) publish clinical practice guidelines to provide doctors and patients in Singapore with evidence-based guidance on managing important medical conditions. This article reproduces the introduction and executive summary (with recommendations from the guidelines) from the AMS-MOH clinical practice guidelines on Autism Spectrum Disorders (ASD), for the information of readers of the Singapore Medical Journal. Chapters and page numbers mentioned in the reproduced extract refer to the full text of the guidelines, which are available from the Ministry of Health website (http://www.moh. gov.sg/mohcorp/publications.aspx?id=24048). The recommendations should be used with reference to the full text of the guidelines. Following this article are multiple choice questions based on the full text of the guidelines.