Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.

In 2018, the Munroe-Meyer Institute for Genetics & Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC) in Omaha, NE created a genetic counseling clinic (GCC) to increase access to genetics services and decrease the time spent between a referral and being seen in a general genetics outpatient clinic. In the GCC, genetic counselors led patient encounters and geneticists served as advisors, rather than primary providers. We conducted a chart review of 109 patients seen in the GCC from November 1, 2018, to March 16, 2020, and obtained information regarding patient demographics, indications, and clinical recommendations as a result of the visit.

Comparing Matrix-Training Procedures with Children with Autism Spectrum Disorder.

Recombinative generalization is the production of responses in the presence of novel combinations of known components. For example, after learning "red triangle" and "blue square," recombinative generalization is observed when a child can tact "red square" and "blue triangle." Recombinative generalization can emerge from a history of matrix training, which involves carefully selecting and arranging stimuli and responses along at least two axes and training a subset of responses.

The Effect of Early-Life Seizures on Cognitive and Motor Development: A Case Series.

Purpose: This case series documents developmental changes over time and in response to a novel intervention, Sitting Together and Reaching to Play (START-Play), in children with early-life seizures.

Methods: Thirteen children with early-life seizures were included from a subset of participants in the START-Play multisite, randomized controlled trial. Seven received 3 months of twice weekly START-Play intervention; 6 continued with usual care early intervention.

The Behavioral Health Education Center of Nebraska: A Creative Solution to a Persistent Behavioral Health Workforce Shortage.

States all across the United States are experiencing a shortage in their behavioral health workforces. Although many studies have suggested factors that contribute to or mitigate the shortage-particularly in rural and underserved areas-no nationwide guidance exists on best practices to develop a behavioral health workforce that can meet community need. The Behavioral Health Education of Nebraska (BHECN) can serve as an exemplar for others looking to take a multifaceted approach to develop the behavioral health workforce in their community.

Screening for pediatric behavioral health in primary care in rural and urban clinics.

Introduction: The prevalence of behavioral health disorders in children is approximately 15%-20%, yet less than half of the children ever receive treatment for these conditions. The lack of access to behavioral health care is common in urban areas but even more difficult to access in rural areas. Screening for behavioral health in a primary care setting is one of the first strategies to reduce this problem and improve access to care.

Newborn Screening for X-Linked Adrenoleukodystrophy in Nebraska: Initial Experiences and Challenges.

X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease caused by pathogenic variants in resulting in defective peroxisomal oxidation of very long-chain fatty acids. Most male patients develop adrenal insufficiency and one of two neurologic phenotypes: a rapidly progressive demyelinating disease in mid-childhood (childhood cerebral X-ALD, ccALD) or an adult-onset spastic paraparesis (adrenomyeloneuropathy, AMN). The neurodegenerative course of ccALD can be halted if patients are treated with hematopoietic stem cell transplantation at the earliest onset of white matter disease.

Neonatal Hypoxic-Ischemic Brain Injury Alters Brain Acylcarnitine Levels in a Mouse Model.

Hypoxic-ischemic brain injury (HIBI) leads to depletion of ATP, mitochondrial dysfunction, and enhanced oxidant formation. Measurement of acylcarnitines may provide insight into mitochondrial dysfunction. Plasma acylcarnitine levels are altered in neonates after an HIBI, but individual acylcarnitine levels in the brain have not been evaluated.

Effects of diet education on empowerment for individuals who have an increased risk of developing breast or colon cancer: A pilot study.

Strong evidence indicates following a healthy diet reduces cancer risk; however, the impact of diet education on empowerment on individuals with an increased cancer risk has not been evaluated. Study participants included patients who had met with a cancer genetic counselor without a history of cancer. Participants received pre- and post-diet education surveys including questions to measure empowerment and feedback for diet education in relation to cancer risk.

Implications of Dosage Deficiencies in CTCF and Cohesin on Genome Organization, Gene Expression, and Human Neurodevelopment.

Properly organizing DNA within the nucleus is critical to ensure normal downstream nuclear functions. CTCF and cohesin act as major architectural proteins, working in concert to generate thousands of high-intensity chromatin loops. Due to their central role in loop formation, a massive research effort has been dedicated to investigating the mechanism by which CTCF and cohesin create these loops.

Val66Met Polymorphism Is Associated with Altered Motor-Related Oscillatory Activity in Youth with Cerebral Palsy.

Brain-derived neurotrophic factor (BDNF) plays a critical role in the capacity for neuroplastic change. A single nucleotide polymorphism of the gene is well known to alter the activity-dependent release of the protein and may impact the capacity for neuroplastic change. Numerous studies have shown altered sensorimotor beta event-related desynchronization (ERD) responses in youth with cerebral palsy (CP), which is thought to be directly related to motor planning.

The SIT-PT Trial Protocol: A Dose-Matched Randomized Clinical Trial Comparing 2 Physical Therapist Interventions for Infants and Toddlers With Cerebral Palsy.

Objective: Although early intervention for infants at risk for cerebral palsy is routinely recommended, the content of intervention is poorly described, varies widely, and has mixed supporting evidence. The purpose of this study was to compare efficacy of 2 interventions grounded in differing domains of the International Classification of Functioning, Disability and Health on developmental outcomes of infants with or at high risk of cerebral palsy.

Methods: Infants who meet inclusion criteria will be randomized into either Sitting Together and Reaching To Play or Movement, Orientation, Repetition, Exercise Physical Therapy groups.

Understanding the Emotional Labor of Public Health Equity Work: a Mixed Methods Study.

Background: Rectifying historic race-based health inequities depends on a resilient public health workforce to implement change and dismantle systemic racism in varied organizations and community contexts. Yet, public health equity workers may be vulnerable to job burnout because personal investment in the continual struggle against inequality exacts an emotional toll. Our study sought to quantify the presence of emotional labor in public health equity work and better understand its dimensions.

Characteristic physical traits of first-grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures.

We compared growth, physical features, and minor anomalies in 131 first-grade children with fetal alcohol spectrum disorders (FASD) to those of a representative comparison group of typically developing children from the same populations (n = 1212). The data were collected from three regional sites in the NIAAA-funded Collaboration on FASD Prevalence (CoFASP). Dysmorphology examinations were performed by a team of expert clinical geneticists, and FASD diagnoses were assigned according to the Revised Institute of Medicine Guidelines, which include assessments of growth, dysmorphology, neurobehavior, and maternal risk interviews.

Effect of the START-Play Physical Therapy Intervention on Cognitive Skills Depends on Caregiver-Provided Learning Opportunities.

Aims: This study evaluated whether caregiver-provided learning opportunities moderated the effect of START-Play physical therapy intervention on the cognitive skills of young children with neuromotor delays, and whether START-Play impacted caregiver-provided learning opportunities over time.

Methods: One hundred and twelve children with neuromotor delays (7-16 months) participated in a multisite randomized clinical trial evaluating the efficacy of START-Play. Children were assessed at baseline and 3 (post intervention), 6, and 12 months post baseline.

Ethical Considerations for Equitable Access to Genomic Sequencing for Critically Ill Neonates in the United States.

Rare diseases impact all socio-economic, geographic, and racial groups indiscriminately. Newborn screening (NBS) is an exemplary international public health initiative that identifies infants with rare conditions early in life to reduce morbidity and mortality. NBS theoretically promotes equity through universal access, regardless of financial ability.

Power training alters somatosensory cortical activity of youth with cerebral palsy.

Objective: Our prior magnetoencephalographic (MEG) investigations demonstrate that persons with cerebral palsy (CP) have weaker somatosensory cortical activity than neurotypical (NT) controls, which is associated with reduced muscular strength and mobility. Power training can improve lower extremity isokinetic strength, muscular power, and walking performance of youth with CP. Potentially, these clinically relevant improvements are partially driven by changes in somatosensory processing.

A scoping review of Augmentative and Alternative Communication (AAC) interventions in Low-and Middle-Income Countries (LMICs).

Currently, a small number of studies discuss augmentative and alternative (AAC) interventions in low- and middle-income countries (LMICs). The primary purpose of this scoping review was to summarize the current evidence base on communication-based interventions and partner training in LMICs, to explore and identify gaps in the AAC evidence base and guide future research. A total of 18 studies were identified.

Therapeutic Lower Extremity Power Training Alters the Sensorimotor Cortical Activity of Individuals With Cerebral Palsy.

Objective: To utilize magnetoencephalographic (MEG) brain imaging to examine potential changes in sensorimotor cortical oscillations after therapeutic power training in individuals with cerebral palsy (CP).

Design: Cohort.

Setting: Academic medical center.

The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation.

Chronic myelomonocytic leukemia (CMML) is a rare but distinct hematological neoplasm with overlapping features of myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN). Individuals with CMML have persistent monocytosis and bone marrow dyspoiesis associated with various constitutional symptoms like fevers, unintentional weight loss, or night sweats. It is established that there is a strong association of CMML with preceding or coexisting autoimmune diseases and systemic inflammatory syndromes affecting around 20% of patients.

Early Brain microRNA/mRNA Expression is Region-Specific After Neonatal Hypoxic-Ischemic Injury in a Mouse Model.

MicroRNAs (miRNAs) may be promising therapeutic targets for neonatal hypoxic-ischemic brain injury (HIBI) but targeting miRNA-based therapy will require more precise understanding of endogenous brain miRNA expression. Postnatal day 9 mouse pups underwent HIBI by unilateral carotid ligation + hypoxia or sham surgery. Next-generation miRNA sequencing and mRNA Neuroinflammation panels were performed on ipsilateral cortex, striatum/thalamus, and cerebellum of each group at 30 min after injury.

Testing a community developed training protocol for an evidence-based treatment.

The implementation of evidence-based treatments (EBTs) in community behavioral health settings is a recommended practice, yet training experienced by community-based clinicians may require novel and creative training methods. The current study focused on creating a training protocol for Alternative for Families: a Cognitive-Behavioral Therapy from both evidence-based foundations and community-based agency feedback to promote better EBT integration into agencies. Twenty-four clinicians from three agencies were trained using a community-informed training protocol.

Training supervisors to provide performance feedback using video modeling with voiceover instructions: A replication.

Performance feedback is an effective strategy to improve and maintain therapist performance with implementing interventions. Shuler and Carroll (2019) successfully used video modeling with voiceover instructions (VMVO) to train supervisors to provide accurate performance feedback to a confederate therapist implementing guided compliance. In Study 1, we replicated Shuler and Carroll by using VMVO to train 5 supervisors to provide performance feedback to a confederate therapist on their guided-compliance integrity.

Increased amplitude of hippocampal low frequency fluctuations in early psychosis: A two-year follow-up study.

Neuroimaging studies have revealed hippocampal hyperactivity in schizophrenia. In the early stage of the illness, hyperactivity is present in the anterior hippocampus and is thought to spread to other regions as the illness progresses. However, there is limited evidence for changes in basal hippocampal function following the onset of psychosis.