The autism inpatient collection: Methods and preliminary sample description

© 2015 Siegel et al. Background: Individuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data. An understanding of ASD's etiology and subtypes can only be as complete as the studied samples are representative. Methods: The Autism Inpatient Collection (AIC) is a multi-site study enrolling children and adolescents with ASD aged 4-20 years admitted to six specialized inpatient psychiatry units. Enrollment began March, 2014, and continues at a rate of over 400 children annually. Measures characterizing adaptive and cognitive functioning, communication, externalizing behaviors, emotion regulation, psychiatric co-morbidity, self-injurious behavior, parent stress, and parent self-efficacy are collected. ASD diagnosis is confirmed by the Autism Diagnostic Observation Schedule - 2 (ADOS-2) and extensive inpatient observation. Biological samples from probands and their biological parents are banked and processed for DNA extraction and creation of lymphoblastoid cell lines. Results: Sixty-one percent of eligible subjects were enrolled. The first 147 subjects were an average of 12.6 years old (SD 3.42, range 4-20); 26.5 % female; 74.8 % Caucasian, and 81.6 % non-Hispanic/non-Latino. Mean non-verbal intelligence quotient IQ = 70.9 (SD 29.16, range 30-137) and mean adaptive behavior composite score = 55.6 (SD 12.9, range 27-96). A majority of subjects (52.4 %) were non- or minimally verbal. The average Aberrant Behavior Checklist - Irritability Subscale score was 28.6, well above the typical threshold for clinically concerning externalizing behaviors, and 26.5 % of the sample engaged in SIB. Females had more frequent and severe SIB than males. Conclusions: Preliminary data indicate that the AIC has a rich representation of the portion of the autism spectrum that is understudied and underrepresented in extant data collections. More than half of the sample is non- or minimally verbal, over 40 % have intellectual disability, and over one quarter exhibit SIB. The AIC is a substantial new resource for study of the full autism spectrum, which will augment existing data on higher-functioning cohorts and facilitate the identification of genetic subtypes and novel treatment targets. The AIC investigators welcome collaborations with other investigators, and access to the AIC phenotypic data and biosamples may be requested through the Simons Foundation (www.sfari.org)

Pediatric professional medical associations and industry guideline compliance.

BACKGROUND AND OBJECTIVES: There has been an increasing focus on the relationship between pediatric prescribers and the biomedical industry. There is a lack of research, however, on the biomedical industry\u27s relationship with the professional medical associations (PMAs) of pediatric prescribers. We developed a systematic method to assess this relationship by evaluating PMA transparency and compliance with a set of 2009 best practice guidelines (BPGs). METHODS: Nine PMAs rated as having the greatest influence on pediatric prescribers were examined. Two researchers independently coded publicly accessible information from the PMAs\u27 Web sites for transparency and compliance with 36 BPG recommendations. Using the coded data, an industry relationship index (IRI) score was developed to systematize comparisons across PMAs. RESULTS: The PMAs demonstrated transparency and compliance with less than one-half of the 2009 BPGs (mean ± SD: 30.2 ± 15.6; range: 8-51 on the 66-point IRI scale). Two PMAs clustered in the high IRI (more transparent and compliant) group, 3 in the medium group, and 4 in the low group. There was no significant association of IRI group status and the PMAs\u27 number of members or age. PMAs were least compliant with recommendations that prohibit or limit financial relationships with industry. CONCLUSIONS: PMAs with influence on pediatric prescribers have achieved only limited transparency and compliance with a set of 2009 BPGs, particularly with respect to financial separation from industry. Use of quantifiable standards of conduct facilitates comparisons between organizations and may enhance public trust in PMAs, preserving their ability to achieve organizational goals

Evaluation of anesthetic technique on surgical site infections (SSIs) at a single institution.

STUDY OBJECTIVE: To determine whether the previously published relationship between anesthetic technique and rate of surgical site infections (SSIs) was influenced by institution specific effects. DESIGN: Retrospective Review of Quality Assurance and Hospital Epidemiology databases. SETTING: Metropolitan medical center. MEASUREMENTS: The records of 7,751 patients who underwent knee or hip joint replacement from 2004 to 2010 were analyzed. Data regarding anesthetic technique, age, ASA status, gender, postoperative temperature, duration of anesthesia and type of surgery were from the department of anesthesiology quality assurance database and SSI cases were identified from the department of epidemiology database. The impact of anesthetic technique and other variables was assessed using bivariate and multivariate techniques. MAIN RESULTS: There was no association of anesthetic technique on the rate of SSI. Duration of anesthesia and ASA status were associated with effects on the rate of SSI. CONCLUSIONS: The impact of anesthetic technique on SSI following hip and knee replacement surgery may be site specific and using locally gathered quality data may assist in assessing specific institutional impact

Telephone administration of the aberrant behavior checklist: a pilot study of feasibility in children with intellectual disability and autism.

To advance clinical care and research in children with intellectual disability and autism there is a growing need for efficient means to measure behavioral severity and response to treatment. The objective of this study was to assess the feasibility of telephone administration of the Aberrant Behavior Checklist-Irritability Subscale (ABC-I). The ABC-I was administered by telephone to the primary caregivers of 39 subjects with intellectual disability and/or autism. The same primary caregiver of each subject was also mailed a written copy of the ABC-I with a self-addressed, stamped envelope. Scores obtained by telephone and written administration were highly correlated (r = 0.827, p \u3c 0.001). Telephone administration of the ABC-I may be a feasible and efficient means of determining response to treatment in children with intellectual disability and/or autism, though these pilot findings need to be replicated in a larger sample

Telephone administration of the aberrant behavior checklist: a pilot study of feasibility in children with intellectual disability and autism.

To advance clinical care and research in children with intellectual disability and autism there is a growing need for efficient means to measure behavioral severity and response to treatment. The objective of this study was to assess the feasibility of telephone administration of the Aberrant Behavior Checklist-Irritability Subscale (ABC-I). The ABC-I was administered by telephone to the primary caregivers of 39 subjects with intellectual disability and/or autism. The same primary caregiver of each subject was also mailed a written copy of the ABC-I with a self-addressed, stamped envelope. Scores obtained by telephone and written administration were highly correlated (r = 0.827, p \u3c 0.001). Telephone administration of the ABC-I may be a feasible and efficient means of determining response to treatment in children with intellectual disability and/or autism, though these pilot findings need to be replicated in a larger sample

Developing, evaluating and validating a scoring rubric for written case reports.

OBJECTIVE: The purpose of this study was to evaluate Family Medicine Clerkship students\u27 writing skills using an anchored scoring rubric. In this study, we report on the assessment of a current scoring rubric (SR) used to grade written case description papers (CDP) for medical students, describe the development of a revised SR with examination of scoring consistency among faculty raters, and report on feedback from students regarding SR revisions and written CDP. METHODS: Five faculty members scored a total of eighty-three written CDP using both the Original SR (OSR) and the Revised SR1 (RSR1) during the 2009-2010 academic years. RESULTS: Overall increased faculty inter-rater reliability was obtained using the RSR1. Additionally, this subset analysis revealed that the five faculty using the Revised SR2 (RSR2) had a high measure of inter-rater reliability on their scoring of this subset of papers (as measured by intra-class correlation (ICC) with ICC = 0.93, p = 0.001. CONCLUSIONS: Findings from this research have implications for medical education, by highlighting the importance of the assessment and development of reliable evaluation tools for medical student writing projects

Biomarkers p16, Human Papillomavirus and p53 Predict Recurrence and Survival in Early Stage Squamous Cell Carcinoma of the Vulva.

OBJECTIVE: Vulvar squamous cell carcinoma (VSCC) develops through 2 distinct molecular pathways, one involving high-risk human papillomavirus (HPV) infection and the other through early p53 suppressor gene mutation. We sought to evaluate the influence of p53 mutation, HPV status, and p16 expression on local recurrence and disease-specific mortality in early stage VSCC. MATERIALS AND METHODS: We performed a retrospective chart review of all patients with stage I VSCC at the Maine Medical Center from 1998 to 2007 (n = 92). Tumor size, depth of invasion, lymphatic/vascular space invasion, and growth pattern were recorded. Paraffin-embedded tissue blocks were stained by immunohistochemistry for p16 and p53; high-risk HPV was detected by polymerase chain reaction assay. Margin distance was determined by a gynecologic pathologist. Survival analyses were conducted to examine predictors of VSCC recurrence and disease-specific mortality. RESULTS: Age, depth of invasion, lymphatic/vascular space invasion, growth pattern, and margin status were not significant predictors of recurrence or disease-specific mortality. Tumor size of greater than 4.0 cm indicated a 4-fold increase in disease-specific mortality but did not significantly increase recurrence. p16-Positive patients were less likely to recur and had no VSCC-related deaths. Human papillomavirus-positive patients were less likely to recur and had no VSCC-related deaths. p53-positive patients were 3 times more likely to recur and nearly 7 times more likely to die from vulvar cancer. CONCLUSIONS: Our findings suggest that HPV and the surrogate biomarker p16 indicate a less aggressive type of vulvar cancer. p53 positivity was associated with poor prognosis and significantly increased both recurrence and disease-specific mortality

Specialized inpatient psychiatry for serious behavioral disturbance in autism and intellectual disability.

Psychiatric hospitalization of children with autism spectrum disorder and/or intellectual disability is common, however, the effectiveness of this intervention is largely unknown. Thirty-eight clinically-referred children 8-19 years old admitted to a specialized inpatient psychiatry unit were assessed by a consistent caregiver on the Aberrant Behavior Checklist-Irritability (ABC-I) subscale at admission, discharge and 2 months post discharge. There was a decrease in the mean ABC-I score from admission (27.3, SD 7.4) to discharge (11.9, SD 8.8), which was sustained at 2 months post discharge (14.8, SD 9.3) (p \u3c 0.001). Seventy-eight percent of the subjects were rated as Improved on the clinician Clinical Global Impressions Improvement scale at discharge. The study is limited by lack of a control group, but offers preliminary evidence for specialized inpatient psychiatry as an intervention for serious behavioral disturbance in this population

Current orthopaedic surgeon practices for nonarthroplasty treatment of osteoarthritis of adult hip and knee.

Evidence-based guidelines have recently been published for the nonarthroplasty treatment of osteoarthritis of the hip and knee and are becoming an expected part of comprehensive patient care. To understand how current treatment practices correlate with these guidelines, a survey was administered to 50 consecutive hip replacement and 50 consecutive knee replacement patients immediately before arthroplasty for osteoarthritis in one group practice. This article is a compilation of patients\u27 usage of the modalities suggested in two such exemplary guidelines and demonstrates that patient and surgeon preferences, as well as factors such as preoperative Oxford score, body mass index, age, and joint involved, affect usage of one or more of the commonly employed preoperative modalities. This information provides orthopaedic surgeons and administrators with a compilation of responses that reflects surgeon and patient preferences for treatment before surgery

The autism inpatient collection: methods and preliminary sample description.

BACKGROUND: Individuals severely affected by autism spectrum disorder (ASD), including those with intellectual disability, expressive language impairment, and/or self-injurious behavior (SIB), are underrepresented in the ASD literature and extant collections of phenotypic and biological data. An understanding of ASD\u27s etiology and subtypes can only be as complete as the studied samples are representative. METHODS: The Autism Inpatient Collection (AIC) is a multi-site study enrolling children and adolescents with ASD aged 4-20 years admitted to six specialized inpatient psychiatry units. Enrollment began March, 2014, and continues at a rate of over 400 children annually. Measures characterizing adaptive and cognitive functioning, communication, externalizing behaviors, emotion regulation, psychiatric co-morbidity, self-injurious behavior, parent stress, and parent self-efficacy are collected. ASD diagnosis is confirmed by the Autism Diagnostic Observation Schedule - 2 (ADOS-2) and extensive inpatient observation. Biological samples from probands and their biological parents are banked and processed for DNA extraction and creation of lymphoblastoid cell lines. RESULTS: Sixty-one percent of eligible subjects were enrolled. The first 147 subjects were an average of 12.6 years old (SD 3.42, range 4-20); 26.5 % female; 74.8 % Caucasian, and 81.6 % non-Hispanic/non-Latino. Mean non-verbal intelligence quotient IQ = 70.9 (SD 29.16, range 30-137) and mean adaptive behavior composite score = 55.6 (SD 12.9, range 27-96). A majority of subjects (52.4 %) were non- or minimally verbal. The average Aberrant Behavior Checklist - Irritability Subscale score was 28.6, well above the typical threshold for clinically concerning externalizing behaviors, and 26.5 % of the sample engaged in SIB. Females had more frequent and severe SIB than males. CONCLUSIONS: Preliminary data indicate that the AIC has a rich representation of the portion of the autism spectrum that is understudied and underrepresented in extant data collections. More than half of the sample is non- or minimally verbal, over 40 % have intellectual disability, and over one quarter exhibit SIB. The AIC is a substantial new resource for study of the full autism spectrum, which will augment existing data on higher-functioning cohorts and facilitate the identification of genetic subtypes and novel treatment targets. The AIC investigators welcome collaborations with other investigators, and access to the AIC phenotypic data and biosamples may be requested through the Simons Foundation (www.sfari.org)