The core mission of National Institute of Neurological Disorders and Stroke (NINDS) is twofold. First, NINDS seeks fundamental knowledge about the brain and nervous system. Second, NINDS aims to use that knowledge to reduce the burden of neurological diseases. In support of its mission, NINDS performs and funds basic, translational, and clinical neuroscience research on more than 600 neurological diseases, including genetic diseases (e.g. Huntington’s disease; muscular dystrophy), developmental disorders (e.g. cerebral palsy), neurodegenerative diseases (e.g. Parkinson’s disease; Alzheimer’s disease; multiple sclerosis), metabolic diseases (e.g. Gaucher’s disease), cerebrovascular diseases (e.g. stroke; vascular dementia), trauma (e.g. spinal cord and head injury), convulsive disorders (e.g. epilepsy), infectious diseases (e.g. AIDS dementia) and brain tumors. Common marmosets (Callithrix jacchus) offer unique, powerful advantages to both components of the NINDS mission. In support of the first component, marmosets are particularly well suited for neuroanatomical and functional brain studies, as their brains retain the typical anatomical and functional organization of the primate brain. A major advantage is that the marmoset is a lissencephalic primate, which greatly facilitates the mapping of functional brain areas by neuroimaging techniques, such as fMRI and optical imaging, as well as by electrophysiology, with high spatial resolution. In support of the second component, marmosets are excellent models of neurological disorders. Unlike rodents, marmosets are outbred and every individual is genetically different. Further, the marmoset brain has a gray-to-white matter ratio comparable to humans, which strongly facilitates modeling diseases such as multiple sclerosis and small vessel disease. The species also exhibits the breadth of cognitive sophistication that distinguishes primates from other taxonomic groups. Finally, geneedited marmosets can be generated with an intergeneration time and establishment of transgenic lines 2-3 times faster than other primate species, which makes marmosets be the ideal primate species for the development of genetically engineered lines. For all of the above reasons, marmosets are poised to be a central player to advance the core mission of the NINDS.

National Institute of Neurological Disorders and Stroke

Autism spectrum disorder (ASD) refers to a lifelong condition that usually appears in late infancy or early childhood, and is characterized by social and communication deficits that impede optimal functioning. Despite widespread research and greater public awareness, ASD has an unclear etiology and no known cure, making it difficult to acquire accurate and timely diagnoses. In addition, once an ASD diagnosis is made, parents find it challenging to navigate the healthcare system and determine which interventions are most effective and appropriate for their child. A growing body of evidence supports the value of early diagnosis and treatment with evidence-based interventions, which can significantly improve the quality of life of individuals with ASD as well as of their carers and families. Particularly noteworthy are early interventions that occur in natural surroundings and can be modified to address age-related goals throughout the lifespan. Therefore, the purpose of this review is to: 1) provide readers with a brief background related to ASD; 2) describe commonly used screening instruments and tools for early diagnosis; 3) describe early interventions that have empirical support; and 4) discuss how the parent-child and family relationships can be affected through this process. This information can provide professionals with information they can use to assist families who make critical and potentially life-changing decisions for children with ASD.

/pdf/clinical-impact-of-early-diagnosis-of-autism-on-the-4g0wuy9era.pdf

Clinical impact of early diagnosis of autism on the prognosis and parent-child relationships

Rural communities face significant challenges regarding the adequate availability of diagnostic-, treatment-, and support-services for individuals with autism spectrum disorder (ASD). Specifically, a variety of factors, including geographic distance between families and service providers, low reliance on health care professionals, and cultural characteristics, contribute to the diminished availability and utilization of services. Together, these factors lead to risks for delayed ASD screening and diagnosis, yielding lower educational and functional outcomes. The purpose of this review is to outline the specific diagnosis and treatment barriers that affect individuals with ASD and their families in rural settings. Telehealth feasibility and efficacy research is also reviewed, suggesting that telecommunication services may offer an inroad for addressing the specific service barriers faced by rural communities. Together, the current review identifies specific needs for both research and support services that address the specific access barriers characteristic of rural settings.

/pdf/rural-trends-in-diagnosis-and-services-for-autism-spectrum-a5kheroy2k.pdf

Rural Trends in Diagnosis and Services for Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by a wide range of symptoms. Identifying biomarkers for accurate diagnosis is crucial for early intervention of ASD. While multi-site data increase sample size and statistical power, they suffer from inter-site heterogeneity. To address this issue, we propose a multi-site adaption framework via low-rank representation decomposition (maLRR) for ASD identification based on functional MRI (fMRI). The main idea is to determine a common low-rank representation for data from the multiple sites, aiming to reduce differences in data distributions. Treating one site as a target domain and the remaining sites as source domains, data from these domains are transformed ( i.e. , adapted) to a common space using low-rank representation. To reduce data heterogeneity between the target and source domains, data from the source domains are linearly represented in the common space by those from the target domain. We evaluated the proposed method on both synthetic and real multi-site fMRI data for ASD identification. The results suggest that our method yields superior performance over several state-of-the-art domain adaptation methods.

Identifying Autism Spectrum Disorder With Multi-Site fMRI via Low-Rank Domain Adaptation

Advances in Autism

Clinical accounts indicate that disparities exist among families of children with Autism Spectrum Disorders (ASD), and that these disparities impede timely diagnosis and intervention. Furthermore, families living in rural areas are more likely to have reduced access to proper care and use alternative, unproven, and potentially harmful treatments. The purpose of this project was to begin addressing these needs by engaging providers and families of children with ASD living in rural and typically underserved areas. The investigators established a Community Advisory Board (CAB) of ASD professionals (e.g., community-based healthcare and service providers, director of a center for disabilities, psychologist, autism researcher, and special education professional). Next, they conducted four focus groups comprised of a total of 35 major stakeholders (e.g., individuals with ASD, parents of individuals with ASD, community-based healthcare and service providers, school teachers) to determine potential resources, barriers to early diagnosis/treatment, and alternative treatment use in children with ASD. Focus group sessions were audio-recorded, transcribed verbatim, and analyzed by three trained independent coders. Community participants identified several barriers to early diagnosis and intervention, as well as a variety of alternative treatments used in children with ASD. Thematic analysis of focus group transcripts showed several overarching themes regarding barriers to early diagnosis and treatment. Findings from this study have implications for practice and future research.

Identifying the Barriers to Early Diagnosis and Treatment in Underserved Individuals with Autism Spectrum Disorders (ASD) and Their Families: A Qualitative Study

Background As expert clinicians are recruited to academic positions in response to nursing faculty shortages, comprehensive plans are needed for transitioning and role development. Problem Schools of nursing often lack infrastructures to support and develop new faculty. Approach Team members from an academic-clinical partnership with the Department of Veterans Affairs created a competency-based faculty development plan. Outcomes A comprehensive self-directed faculty development plan was established that included a needs assessment, competency-based guide, and online modular resources. Conclusion The faculty development plan provides a tailored approach to support the transition of clinicians to the academic role. This strategy is a potential solution to addressing the faculty shortage, retention, and role strain issues and builds capacity in schools of nursing. This innovative plan is a first step in establishing a mechanism to measure faculty competencies and professional growth.

Assimilation of Expert Clinician Into the Academy: A Competency-Based Faculty Development Plan.

Using a Patient Centered Outcomes Research Institute (PCORI) Approach to Engage Key Stakeholders on the Topic of Transitioning to Adulthood in Autism Spectrum Disorders (ASD)

Susan Brasher

Papers

Clinical impact of early diagnosis of autism on the prognosis and parent-child relationships

Identifying the Barriers to Early Diagnosis and Treatment in Underserved Individuals with Autism Spectrum Disorders (ASD) and Their Families: A Qualitative Study

Assimilation of Expert Clinician Into the Academy: A Competency-Based Faculty Development Plan.

Using a Patient Centered Outcomes Research Institute (PCORI) Approach to Engage Key Stakeholders on the Topic of Transitioning to Adulthood in Autism Spectrum Disorders (ASD)

A framework for evaluating SDOH curriculum integration.