We aim to reduce sweat testing quantity not sufficient (QNS) rates in infants who are referred to Cystic Fibrosis Foundation Accredited Care Centers for follow-up testing after a positive newborn screening (NBS) test. It is important to do this now because there is evidence of both high QNS rates at some centers. Additionally a significant percentage of infants diagnosed with CF through the newborn screening system do not have a confirmatory sweat test reported in the first months of a CF diagnosis. Furthermore, QNS sweat tests can delay the diagnosis and treatment of infants with CF, thus reducing the benefit of newborn screening to individuals, their families, and the public health system. We hypothesize that a structured sweat test performance improvement program focused on collecting adequate sweat specimens from infants will reduce the QNS rate in newborns to less than 10% at participating CF Centers. Our specific aims are: 1. To assure that all staff who perform sweat tests, and their supervisors, receive in-depth education on optimal sweat test collection in infants. 2. To distribute andimplement the use of a Sweat Test Checklist designed to continuously refresh knowledge of optimal techniques for sweat test collection, supporting participating sites in local process improvement using the Checklist as a key tool 3. To build sustainable systems for maintenance of low sweat test QNS rates at participating sites.

Title: Efficacy of a Parent-Mediated Intervention for One-Year-Olds at-Risk for Autism (Early Development Project-2)

Purpose: To assess the efficacy of an early intervention program called Adaptive Responsive Teaching in improving developmental outcomes and ameliorating symptom severity among one-year-olds at-risk for autism spectrum disorders (i.e., “autism”).
Setting: The research was carried out in 6 counties in central North Carolina, with assessments conducted in local communities and the intervention provided in children’s homes.

Population: Our sample of 87 randomized children/families was drawn from the population of one-year-olds > 2500 grams at birth in our catchment area, with the restriction that English was a primary language in the home. Families of children who scored at high-risk for autism on a screening tool called the First Year Inventory (Baranek et al., 2003) were invited to participate. Racially our sample of child participants was 69% White, 21% African-American/Black, 2% Asian, and 8% multi-racial. The highest education levels of the primary caregivers were: 15% high school degree or less, 18% associate’s degree, vocational program, or some college, 28% baccalaureate degree, and 39% graduate degree.

Intervention tested: We tested a parent-mediated, home-based intervention called Adapted Responsive Teaching (ART), which is based on the Responsive Teaching curriculum (Mahoney & MacDonald, 2007). ART targets pivotal behaviors (i.e., early behaviors linked to the later development of more complex functions) in two key domains of social-communication and sensory-regulatory functions. An interventionist met with families for approximately 30 1-hour home visits over a period of 6-8 months to provide them with information, demonstration, and coaching on the use of responsive teaching strategies to promote targeted pivotal behaviors for their child. Responsive teaching strategies emphasize reciprocity, contingency; shared control, positive affect, and matching the child’s developmental level and behavioral style. Family action plans were formulated at the end of each session to promote the use of ART by parents during daily, routine interactions with their child.

Comparison condition: ART was compared to a condition called “Referral to Early Intervention and Monitoring (REIM) in which families of eligible children are referred to community services for early intervention, with monthly monitoring via phone calls from the research staff.
Primary research method: We used randomized assignment to group, with an equal probability of assignment to ART or REIM. Assessors and coders involved in pre- and posttest measures were blind to group assignment.

Measures and key outcomes: We used a battery of assessments to evaluate pre- and post-intervention performance on our key outcomes of (1) social-communication and sensory-regulatory pivotal behaviors targeted in ART, (2) broader development and adaptation, and (3) autism symptom severity. In addition, we measured changes in parent responsiveness as a postulated mediator, and initial child developmental quotient (DQ) and parent stress as postulated moderators of outcomes.

Data analytic strategy: We used an intent-to-treat strategy in our analyses to report our per protocol findings for this study. ANCOVAs were be used to evaluate the effects of ART on our primary outcomes, as well as the postulated moderating effects of initial child DQ and parent stress. A path analytic approach was used to test whether changes in parent responsiveness mediated outcomes. (Manuscript under review as of September, 2016.)

NOTE: The data collected in conjunction with this project are currently being used to address a variety of additional research questions through secondary data analysis.

This RO1 application requests funds to develop and validate a novel outcome measure targeting the behavioral inflexibility in children with intellectual and developmental disabilities (IDD). This behavioral domain encompasses a host of closely related clinical sequelae that can be profoundly disabling and are common in IDD such as (a) an overall inflexible temperament or behavioral style that underlies discrete idiosyncratic forms of repetitive and rigid behavior manifestations (e.g., inability to tolerate changes in the environment, stereotyped uses of objects); (b) associated mood and behavior problems that arise when this inflexible temperament and its manifestations cannot be accommodated; and (c) interference with learning and adaptation that stems from rigidity / inflexibility as even treatment itself can represent intrusion and change for an inflexible child (e.g., a new pill, a new therapy exercise). In recent years there have been large-scale drug trials and small behavioral trials targeting discrete behaviors that fall under the domain of repetitive inflexible behavior. However, the measures included in many of these clinical trials have little to no evidence of their ability to detect change over time. In fact, while several instruments exist that measure the discrete behavioral endpoints of this overall construct of rigidity / inflexibility, no instrument exists that adequately extends much beyond a “behavior checklist” approach. The overall objective of this application is to develop and validate a new measure, the Repetitive and Inflexible Behavior Inventory (RIBI), with the primary goal of developing a measure that is sensitive to change over time. The RIBI is designed as a parent report measure for children (ages 3 -18) with IDD. The rationale is that a novel measure is needed to (a) capture the range of repetitive inflexible behaviors that are found in children with IDD across a variety of idiopathic and genetic disorders, (b) measure the functional impact of these behaviors on the family’s daily life, and (c) detect change over time when these behaviors are the target of intervention. Thus, the specific aims of this project are to (1) examine the psychometric properties of the RIBI for children and adolescents with autism spectrum disorder (ASD), establishing reliability, factor structure, content and construct validity; (2) evaluate the RIBI’s ability to measure change over time in children with ASD; and (3) examine the psychometric stability of the RIBI when applied to children and adolescents with Fragile-X and Prader-Willi syndromes. To accomplish these aims, a multisite study will be conducted using recommended instrument development methodologies, such as focus groups, expert panels, and online surveys (n=1500). This team is in an ideal position to develop the RIBI because of our prior experience with measure development, and the conduct of clinical trials targeting repetitive inflexible behavior. The expected deliverable is an outcome measure that is appropriate for IDD populations and minimally burdensome to complete in order to be useful for multisite clinical trials.

The primary treatment modality for ovarian cancer is radical surgery. Rates of post-operative morbidity (20-30%) and hospital readmission (10-15%) are high. Low QOL prior to chemotherapy (i.e. after surgery) is associated with delayed chemotherapy start, dose delays, and decreased overall survival. The quality of surgical recovery in this population is high-stakes, with an impact on the costs of hospital readmission, as well as post-operative chemotherapy receipt and survival. For women with ovarian cancer, there is currently no published literature on acute post-operative functional deficits and QOL decrements. Functional deficits and QOL are modifiable and constitute the main goals of OT. This study will be the first in this population to identify post-operative, modifiable, functional deficits. We will collect essential qualitative data to design a population-specific, evidence-based OT intervention. The goals of this work are to improve post-operative recovery in order to decrease readmission, improve QOL and ultimately decrease cost. Objective: To identify and describe the modifiable functional deficits after ovarian cancer debulking surgery at discharge. Specific aims: 1) to identify patient functional deficits; 2) to identify patient perceived functional needs and 3) to collect population-specific QOL data Research question: Do women after ovarian cancer debulking surgery have functional deficits that are modifiable with OT? Hypotheses: (1) Women after ovarian cancer debulking surgery have potentially remedial functional deficits. The proportion is unknown, but it is expected to be high. (2) The main theme of perceived functional need will be post-operative self-care. Participants will undergo OT assessment, COPM administration, and QOL survey administration by OT. The QOL surveys will include: Patient Reported Outcome Measurement Information System (PROMIS)-Global Health, PROMIS – Anxiety, Modified Work Ability Index, NCCN Symptom Distress Management Screening Tool, and the Possibilities for Activity Scale (PActS) – Gynecologic Oncology. This will occur within 24 – 48 hours of planned hospital discharge. Medical information on each patient will be abstracted from the medical record and will include: age, cancer site, procedure type, and plan for adjuvant therapy. The evaluation will also be recorded and transcribed for qualitative analysis. Using Atlas.ti software, the transcripts will be evaluated, categorized, and analyzed through an iterative process of Focused coding, In Vivo coding, Pattern coding, and Theoretical coding. The codes will be aggregated into conceptual categories to identify themes, patterns, and relationships among them. Lastly, a model for interpretation will be developed of the women’s’ post-operative experience and perceived needs. COPM scores for functional performance and satisfaction will be summed separately and reported.

ASD is a male-dominant condition however research indicates that girls may have different phenotypic-profiles particularly in the domain of Circumscribed Interests (CI) – intense and often idiosyncratic interest held by children and adults with ASD. CI are reported in 80% of individuals with ASD, and while can represent islands of ability, limit learning and social opportunities. Eye tracking offers one way to examine the attentional mechanisms underlying CI with studies finding reduced social attention. No study has explored gender differences. As such we do not know if CI manifest differently in girls. The identification of differential attention and learning styles could inform ASD diagnosis and intervention, which are largely defined by the male-phenotype. This study uses eye tracking as a way to examine potential gender differences in attention in ASD. We are currently examining differences between girls and boys attention to two sets of visual arrays (1)High Autism Interest (HAI) items vs. Neutral items and (2)Female vs. Male Interests (based on typically developing literature). This will allow us to examine whether girls with ASD (1)have similar attentional patterns to CI (HAI images) as boys with ASD, (2)have similar attentional patterns but to different stimuli or (3)are characterized by different attentional patterns.

Energy efficiency is a hallmark of healthy human walking, but can become impaired when the legs do not provide symmetric push-off. Our recent analysis of gait following stroke has identified a consistent mechanical asymmetry between the limbs, which is analogous to driving a car by alternatively slamming on the gas, then the brake with each step. Like poor gas mileage in a car, we propose that this is energetically costly to the human body, but can be fixed by providing appropriate forces to ensure smooth forward (anterior) progress of the body’s center of mass (COM). Although gait requires the COM to maintain a ‘nearly’ constant anterior speed, nearly all literature on COM movement has focused on vertical fluctuations. Here, we will address an imposed force on the COM as a potential therapeutic target to restore optimal mechanics and energetics of gait for individuals post-stroke.

The public health significance of sleep disorders is substantial, accounting for hundreds of billions of
dollars each year in direct medical costs. Sleep disorders increase risk of neurocognitive and
cardiovascular morbidity and premature death. They also impair daily performance, increase pain sensitivity and decrease quality of life. Much of this disease burden could be averted with presently available treatment. Yet the majority of sleep disorders remain undiagnosed. This feasibility study will test the validity of the wrist-worn Jawbone Up[ and the ResMed S+ sleep monitors for estimating sleep stage and duration, and wake after sleep onset, by comparison with type 1 polysomnography (PSG), the current gold standard for sleep disorder diagnosis.

The objective is to evaluate the accuracy of the Jawbone Up and the ResMed S+ in estimating sleep
stages, total sleep time, and wake after sleep onset as measured against the gold standard of traditional in laboratory polysomnography. We hypothesize that the Jawbone Up and the ResMed S+ will provide sleep staging data comparable with those of PSG. These pilot data will serve as preliminary studies to support an evaluation of sleep and the response of sleep to therapy in a well-established NIH-sponsored study of chronic pain, as well as future studies.

The public health significance of sleep disorders is substantial, accounting for hundreds of billions of
dollars each year in direct medical costs. Sleep disorders increase risk of neurocognitive and
cardiovascular morbidity and premature death. They also impair daily performance, increase pain sensitivity
and decrease quality of life. Much of this disease burden could be averted with presently available treatment. Yet the majority of sleep disorders remain undiagnosed. This feasibility study will test the validity of the Beddit sleep monitor, FitBit wrist-band, and ResMed S+ for estimating sleep stage and duration, and wake after sleep onset, by comparison with type 1 polysomnography (PSG), the current gold standard for sleep disorder diagnosis.