Risk factors for Lyme disease among residents of rural, suburban, and urban areas in the United States: A Case-Control Study.

lyme disease (LD) is the most common vector-borne disease in the United States, with 476,000 cases estimated each year. It is unclear how LD risk factors vary by residential setting. We conducted a case-control study on LD risk by rural, urban, and suburban residential settings.

Antisense oligonucleotide therapy in an individual with KIF1A-associated neurological disorder.

KIF1A-associated neurological disorder (KAND) is a neurodegenerative and often lethal ultrarare disease with a wide phenotypic spectrum associated with largely heterozygous de novo missense variants in KIF1A. Antisense oligonucleotide treatments represent a promising approach for personalized treatments in ultrarare diseases. Here we report the case of one patient with a severe form of KAND characterized by refractory spells of behavioral arrest and carrying a p.

Reading skills over time among children with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder with a distinct cognitive profile including decreased verbal span. Children with DMD are also at risk for lower scores on academic achievement tests and increased behavioral problems. Longitudinal analyses generally reveal a stable intellectual profile, although attention and behavioral problems may negatively impact longitudinal IQ scores.

Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.

Purpose: Pathogenic variants in kinesin family member 1A (KIF1A) are associated with KIF1A-associated neurological disorder. We report the clinical phenotypes and correlate genotypes of individuals with KIF1A-associated neurological disorder.

Methods: Medical history and adaptive function were assessed longitudinally.

Reasons for switching oral antipsychotic medications and related patterns of care and costs in patients with schizophrenia initiating monotherapy treatment: Claims-linked chart study.

Background: Antipsychotic switching is frequent in schizophrenia and is associated with poor clinical outcomes, increased health care resource utilization (HCRU), and increased health care costs. Research describing the reasons for antipsychotic switching in patients with schizophrenia and the associated impacts on HCRU and costs is limited.

Objective: To explore the reasons for oral antipsychotic medication (OAM) switching and describe HCRU and costs associated with OAM switching, stratified by reasons for switching, in patients with commercial or Medicare Advantage insurance in the United States.

Patterns of care and costs of switching oral antipsychotic medications in patients with schizophrenia initiating monotherapy treatment: A US claims analysis.

Background: Antipsychotic medications are the mainstay of schizophrenia therapy but may need to be changed over the course of a patient's illness to achieve the desired therapeutic goals or minimize medication side effects. Investigations of real-world treatment patterns and economic consequences associated with antipsychotic changes, including switching, are limited.

Objective: To describe treatment patterns among patients with schizophrenia who initiated oral antipsychotic medication (OAM) monotherapy and assess switching-related health care resource utilization (HCRU) and costs in US Medicare Advantage and commercially insured patients.

Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.

Pathogenic heterozygous loss of function variants in CTNNB1 are associated with CTNNB1 neurodevelopmental disorder. We report the clinical phenotype of individuals with CTNNB1 neurodevelopmental disorder using both caregiver-reported data (medical history, adaptive function, quality of life, and behavior issues) and in-person clinical assessments (neurological, motor, and cognitive function) in 32 individuals with likely pathogenic or pathogenic CTNNB1 variants. Most individuals had truncal hypotonia, muscle weakness, hypertonia, dystonia, microcephaly, and many had a history of tethered cord.

The impact of a fast-track questionnaire in pediatric paradoxical vocal fold motion disorder (PVFMD).

Objective: PVFMD is a frequent cause of dyspnea in the healthy adolescent. When PVFMD is suspected, the current standard of care includes referral to an otolaryngologist (ENT) prior to beginning laryngeal control therapy (LCT) with a speech language pathologist (SLP). We hypothesize that a "fast-track" screening questionnaire will improve time to treatment and decrease patient charges.

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Objective: To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).

Methods: Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures.

Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position.

Objectives: The aim of this study was to investigate executive skills in children with dystrophinopathy and to examine the association between executive functions and dystrophin gene mutation position.

Methods: Fifty boys with dystrophinopathy (mean age, 11 years 0 months; ages range, 5 to 17 years) completed measures of intellectual functioning (IF), working memory and executive functioning [including Digit Span (working memory) and measures from the NIH Toolbox (selective attention/inhibitory control, set shifting, working memory, and processing speed)]. Parents completed the Behavior Rating Inventory of Executive Function (BRIEF).

Executive Skills and Academic Achievement in the Dystrophinopathies.

Objectives: To examine academic performance in dystrophinopathy as a function of dystrophin gene mutation position as well as intellectual function, executive skills, socioeconomic status (SES), behavior, and physical ability.

Methods: In a cross-sectional study, boys with dystrophinopathy (ages 5-17; n=50) completed tests of academics (Woodcock-Johnson-III: spelling, reading, calculation and total scores), executive functioning (selective attention/inhibitory control, set shifting, working memory, and processing speed), single word comprehension and nonverbal reasoning. Motor skills were assessed and parents provided demographic information and child behavioral assessments.

Digit Span Performance in Children with Dystrophinopathy: A Verbal Span or Working Memory Contribution?

Objectives: In a large cohort of boys with dystrophinopathies and their unaffected siblings, we examined whether consistently observed performance on digit span is due primarily to a verbal span or executive deficit. We additionally assessed whether digit span performance contributed to the observed variability in reading performance noted in this population.

Methods: Performance of 170 boys with dystrophinopathy was compared to 95 unaffected sibling controls on measures of verbal function, reading, and digit span.

The Contribution of Tobacco Use to High Health Care Utilization and Medical Costs in Peripheral Artery Disease: A State-Based Cohort Analysis.

Background: Tobacco use is an important preventable cause of peripheral artery disease (PAD) and a major determinant of adverse clinical outcomes.

Objectives: This study hypothesized that tobacco use by PAD patients would be associated with higher health care utilization and associated costs.

Methods: We conducted a retrospective, cross-sectional study using 2011 claims data from the largest Minnesota health plan.

Homologous RXLR effectors from Hyaloperonospora arabidopsidis and Phytophthora sojae suppress immunity in distantly related plants.

Diverse pathogens secrete effector proteins into plant cells to manipulate host cellular processes. Oomycete pathogens contain large complements of predicted effector genes defined by an RXLR host cell entry motif. The genome of Hyaloperonospora arabidopsidis (Hpa, downy mildew of Arabidopsis) contains at least 134 candidate RXLR effector genes.

Resilience in children diagnosed with a chronic neuromuscular disorder.

Objective: : To examine what contributes to resiliency in children living with Duchenne muscular dystrophy (DMD), a chronic, progressive neuromuscular disorder that also influences cognitive ability. The authors hypothesized that family and social support will moderate the effects of individual symptoms of illness severity and influence positive adjustment in boys with DMD.

Method: : One hundred forty-six boys with DMD were included.

Association of autistic spectrum disorders with dystrophinopathies.

Parents of 85 boys with dystrophinopathies and 51 sibling controls completed the Social Communication Questionnaire, describing child behaviors associated with autism spectrum disorders and a rating of parental stress. Twenty-one boys with dystrophinopathies and no siblings received scores above the cut-point for possible autistic spectrum disorders. Mothers of identified children were given detailed interviews using the Autism Diagnostic Interview-Revised, and 16 boys (about 19% of the sample) met the criteria for autism spectrum disorders.

Cognitive and adaptive deficits in young children with Duchenne muscular dystrophy (DMD).

The goal of the current investigation was to examine adaptive behavior and cognitive skills in young children with Duchenne muscular dystrophy (DMD), a genetic disorder that causes progressive muscular weakness and concomitant cognitive deficits. Previous studies have documented specific language deficits in older children with DMD, but there are limited data on younger children. Twenty children with DMD who were between 3 and 6 years old and 20 unaffected family control children were recruited.

Investigation of Poor Academic Achievement in Children with Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy (DMD) is a neurogenetic developmental disorder that presents with progressive muscular weakness. It is caused by a mutation in a gene that results in the absence of specific products that normally localize to muscle cells and the central nervous system (CNS). The majority of affected individuals have IQs within the normal range, generally with lower verbal than performance IQ scores.

Delayed developmental language milestones in children with Duchenne's muscular dystrophy.

Objectives: To document the attainment of developmental milestones in children with Duchenne's muscular dystrophy (DMD) and to determine whether early delays are associated with later performance on measures of cognition.

Study Design: Retrospective parental report was utilized to document the acquisition of 10 common developmental milestones in children with DMD (n = 130) and their unaffected siblings (n = 59). Children completed tests of cognitive functioning.

Verbal and memory skills in males with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a progressive pediatric disorder that affects both muscle and brain. Children with DMD have mean IQ scores that are about one standard deviation lower than population means, with lower Verbal IQ than Performance IQ scores. For the present study, verbal skills and verbal memory skills were examined in males with DMD with the Clinical Evaluation of Language Fundamentals, 3rd edition, and the California Verbal Learning Test for Children.

Poor facial affect recognition among boys with duchenne muscular dystrophy.

Children with Duchenne or Becker muscular dystrophy (MD) have delayed language and poor social skills and some meet criteria for Pervasive Developmental Disorder, yet they are identified by molecular, rather than behavioral, characteristics. To determine whether comprehension of facial affect is compromised in boys with MD, children were given a matching-to-sample test with four types of visual recognition (Object, Face, Affect, and Situation matching) developed by Lucci and Fein. Within-group analyses on 50 boys with MD found decreased Affect matching relative to the other matching conditions.

Social behavior problems in boys with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a chronic, progressive pediatric disease that affects both muscle and brain. The objectives of the study were to examine parent reported behavior in children with DMD, investigate the influence of chronic illness, intellectual ability and etiology on behavior, and determine whether a specific behavioral profile is associated with DMD. Parental ratings of boys with DMD (n = 181) on the Child Behavior Checklist behavior scales were examined and compared to reported findings of children with other chronic illnesses, unaffected siblings of boys with DMD (n = 86), and children with cerebral palsy (CP) (n = 42).

Reliability of self-reported contraceptive use and sexual behaviors among adolescent girls.

This study examines two issues relevant to adolescents' self-reported sexual and contraceptive use behaviors: reliability of partner-referent reports versus 3 and 6 month reports, and test-retest reliability of reports completed over a 2 week period. Data are from 196 13 to 18 year old girls recruited into this study while they south reproductive care from health clinics in a metropolitan area. All participants reported having had sexual intercourse during the past 6 months.

Parental stress in mothers of boys with duchenne muscular dystrophy.

Objective: To examine parental stress in mothers of boys with Duchenne muscular dystrophy (DMD).

Method: Stress and its predictors were examined in mothers of boys with DMD (n = 112). Comparisons were made with mothers of healthy children (n = 800), children with cerebral palsy (CP; n = 28), siblings of boys with DMD (n = 46), and longitudinally (n = 16).

Pregnancy feelings among adolescents awaiting pregnancy test results.

Objective: The authors surveyed adolescent girls about their feelings regarding pregnancy.

Methods: A survey was administered to 117 13- to 18-year-olds who obtained pregnancy tests at nine clinics in Minneapolis and St. Paul, Minnesota, in 1998.