10 research outputs found

    Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome

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    Truncating variants of theMAGEL2gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder

    Parent-led, Stepped-care Cognitive-behavioral Therapy for Youth with Autism and Co-occurring Anxiety: Study Rationale and Method

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    Anxiety disorders affect up to 50% of individuals with autism spectrum disorder (ASD) and are significantly impairing to the person affected, as well as to their loved ones. Cognitive-behavioral therapy (CBT) has been established as the gold-standard treatment for anxiety disorders among typically developing youth and adults, and demonstrates similar efficacy among youth with high-functioning autism (HFA). Many CBT interventions utilize a “full-package” treatment approach to treat co-occurring anxiety in youth with ASD. However, these service delivery systems are often therapist-intensive, costly, and impractical, thereby compromising full engagement and treatment adherence. This paper describes the design, rationale, and methodology of a study examining stepped-care CBT for youth with HFA and co-occurring anxiety – a clinical trial examining the efficacy of low-intensity, parent-led CBT as the first line of treatment and utilizing a more intensive, therapist-led intervention for nonresponders. The study will evaluate the potential benefits of stepped-care and parent-led therapist-assisted interventions, predictors of treatment response, and the economic value of using a stepped-care model. Implications for practice will be discussed

    MOVING THE NEEDLE ON TIME TO RESUSCITATION: AN EAST PROSPECTIVE MULTICENTER STUDY OF VASCULAR ACCESS IN HYPOTENSIVE INJURED PATIENTS USING TRAUMA VIDEO REVIEW.

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    INTRODUCTION: Vascular access in hypotensive trauma patients is challenging. Little evidence exists on the time required and success rates of vascular access types. We hypothesized that intraosseous (IO) access would be faster and more successful than peripheral IV (PIV) and central venous catheter (CVC) access in hypotensive patients. METHODS: An EAST prospective multicenter trial was performed; 19 centers provided data. Trauma video review (TVR) was used to evaluate the resuscitations of hypotensive (systolic blood pressure ≤ 90 mmHg) trauma patients. Highly granular data from video recordings were abstracted. Data collected included vascular access attempt type, location, success rate, and procedural time. Demographic and injury-specific variables were obtained from the medical record. Success rates, procedural durations, and time to resuscitation were compared among access strategies (IO vs PIV vs CVC). RESULTS: 1,410 access attempts occurred in 581 patients with a median age of 40[27-59] years and an ISS of 22[10-34]. 932 PIV, 204 IO and 249 CVC were attempted. 70% of access attempts were successful but were significantly less likely to be successful in females (64% vs. 71%, p = 0.01). Median time to any access was 5.0[3.2-8.0] minutes. IO had higher success rates than PIV or CVC (93% vs. 67% vs. 59%, p \u3c 0.001) and remained higher after subsequent failures (second attempt 85% vs. 59% vs. 69%, p = 0.08; third attempt 100% vs 33% vs. 67%, p = 0.002). Duration varied by access type (IO 36[23-60]sec; PIV 44[31-61]sec; CVC 171[105-298]sec) and was significantly different between IO vs. CVC (p \u3c 0.001) and PIV vs. CVC (p \u3c 0.001) but not PIV vs. IO. Time to resuscitation initiation was shorter in patients whose initial access attempt was IO, 5.8 minutes vs. 6.7 minutes (p = 0.015). This was more pronounced in patients arriving to the hospital with no established access (5.7 minutes vs. 7.5 minutes, p = 0.001). CONCLUSIONS: IO is as fast as PIV and more likely to be successful compared with other access strategies in hypotensive trauma patients. Patients whose initial access attempt was IO were resuscitated more expeditiously. IO access should be considered a first line therapy in hypotensive trauma patients. LEVEL OF EVIDENCE: Level II Therapeutic/Care Management

    SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

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    The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism. org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD
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