Jennifer Janusz
A5062328761- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Neurofibromatosis and Schwannoma Cases
- Sexual Differentiation and Disorders
- Prenatal Screening and Diagnostics
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Attention Deficit Hyperactivity Disorder
- Meningioma and schwannoma management
- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Innovations in Medical Education
- Sleep and Wakefulness Research
- Birth, Development, and Health
- Family and Disability Support Research
- Counseling Practices and Supervision
- Obstructive Sleep Apnea Research
- Neuroscience of respiration and sleep
- Testicular diseases and treatments
- Traumatic Brain Injury Research
- Dupuytren's Contracture and Treatments
- Resilience and Mental Health
- Psychological Testing and Assessment
- Chromatin Remodeling and Cancer
- Children's Physical and Motor Development
- Child and Adolescent Psychosocial and Emotional Development
Children's Hospital Colorado
2009-2025
University of Colorado Denver
2009-2025
University of Colorado System
2024
University of Colorado Anschutz Medical Campus
2023
University of Cincinnati
2005-2021
Murdoch Children's Research Institute
2021
National Cancer Institute
2016-2021
California State University, Sacramento
2021
Boston Children's Hospital
2021
Children's National
2016-2021
As interest in pediatric neuropsychology and neuroscience grows so do the number of books devoted to atypical child development. Many these are “disorder-focused,” emphasizing th...
Abstract The effects of childhood traumatic brain injury (TBI) on social problem-solving were examined in 35 children with severe TBI, 40 moderate and 46 orthopedic injuries (OI). recruited prospectively following that occurred between 6 12 years age. They followed longitudinally, ranged from 9 to 18 age at the time current study, which average 4 post injury. administered a semi-structured interview used previous research assess developmental level their responses hypothetical dilemmas...
The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease patients with neurofibromatosis type 1 (NF1), 2 (NF2), schwannomatosis (SWN), to recommend optimal image acquisition analysis methods enable WB-MRI as endpoint NF clinical trials.A systematic process was used review all published data about syndromes assess diagnostic...
Surveyed parents of children with and without ADHD for their perceptions children's sleep patterns. All had been referred learning or behavior problems to an outpatient assessment center. Diagnoses were based on DSM-III-R, rather than DSM-III criteria, avoiding a possible confound from diagnostic criteria that formerly included disturbance as defining characteristic ADHD. Data replicated past findings showing perceive have greater difficulty normally developing children. Parents perceived...
<h3>Objective:</h3> Tumors and other disease complications of neurofibromatosis (NF) can cause pain negatively affect physical functioning. To document the clinical benefit treatment in NF trials targeting these manifestations, patient-reported outcomes (PROs) assessing functioning should be included as study endpoints. Currently, there is no consensus on selection use such measures population. This article presents recommendations PRO group Response Evaluation Neurofibromatosis...
ABSTRACT Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample youth with sex chromosome trisomies (SCTs) matched controls. Methods: Patients PEDSnet diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y 243), or 47,XXX/Trisomy X 262) were controls using propensity scores. Generalized estimating equations computed odds ratios (OR) 95% confidence intervals (CI) for within composites, psychotropic medication...
Learning difficulties are frequently reported in children with neurofibromatosis type 1 (NF1), yet little is known about the extent and predictors of their academic functions across ages. We aimed to examine developmental patterns achievement these from childhood adolescence how differ demographic NF1-related disease factors. This cross-sectional study integrated data 1512 NF1 (mean age, 11.2 years, SD, 3.62, range, 3-18, 46.5% female patients) 8 institutions. Academic functioning was...
Abstract Context 47,XXY/Klinefelter syndrome (XXY) is associated with impaired testicular function and differences in physical growth, metabolism, neurodevelopment. Clinical features of XXY may be influenced by testosterone during the mini-puberty period infancy. Objective We tested hypothesis that exogenous treatment positively affects short-term physical, hormonal, neurodevelopmental outcomes infants XXY. Design Double-blind randomized controlled trial, 2017-2021 Setting US tertiary care...
Purpose: Individuals with sex chromosome aneuploidies (SCAs) are born an atypical number of X and/or Y chromosomes, and present a range medical, developmental, educational, behavioral, psychological concerns. Rates SCA diagnoses in infants children increasing, there is need for specialized interdisciplinary care to address associated risks. The eXtraordinarY Kids Clinic was established provide comprehensive experienced adolescents SCA, team composed developmental–behavioral pediatrics,...
Abstract The prevalence and correlates of depressive symptoms following childhood traumatic brain injuries (TBI) were examined using data drawn from a prospective longitudinal study. Participants included 38 children with severe TBI, 51 moderate 55 orthopedic (OI). Assessments occurred shortly after injury (baseline) at 6- 12-month follow-ups. Children completed the Child Depression Inventory (CDI). Parents rated Behavior Checklist (CBC), baseline ratings reflecting premorbid status. also...
Abstract Sex chromosome aneuploidies (SCAs) are the most commonly occurring in children with a collective prevalence rate of 1 500 live births. Prior research has documented SCAs associated an increased risk for early expressive language and gross motor delays, learning disorders, ADHD, autism spectrum disorder, anxiety, executive function problems. Although have been historically underdiagnosed young children, recent advances noninvasive prenatal testing resulted increasing nationwide...
<h3>Objective:</h3> Clinically validated biomarkers for neurofibromatosis 1 (NF1), 2 (NF2), and schwannomatosis (SWN) have not been identified to date. The biomarker working group9s goals are (1) define needs in NF1, NF2, SWN; (2) summarize existing data on (3) outline recommendations sample collection development; (4) standardize methodology protocols where possible promote comparison between studies by publishing standard operating procedures (SOPs). <h3>Methods:</h3> group reviewed...
Neurofibromatosis type 1 (NF1) is associated with neurocognitive deficits that can impact everyday functioning of children, adolescents, and adults this disease. However, there little agreement regarding measures to use as cognitive endpoints in clinical trials. This article describes the work Neurocognitive Committee Response Evaluation Schwannomatosis (REiNS) International Collaboration. The goal committee identify standardized specific assessment tools for NF first identified domains...
<h3>Objective:</h3> Plexiform neurofibromas (PNs) are complex, benign nerve sheath tumors that occur in approximately 25%–50% of individuals with neurofibromatosis type 1 (NF1). PNs cause airway compromise or pulmonary dysfunction uncommon but clinically important. Because improvement sleep quality function represents direct clinical benefit, measures and may be more meaningful than tumor size as endpoints therapeutic trials targeting PN. <h3>Methods:</h3> The Response Evaluation...
Background and objectives: Sex chromosome trisomy (SCT) is a common chromosomal abnormality associated with increased risks for early developmental delays neurodevelopmental disorders later in childhood. Our objective was to quantify the spectrum of milestones SCT. We hypothesized milestone achievement SCT than general population. Methods: Data were collected as part eXtraordinarY Babies Study, prospective natural history health trajectories prenatally identified sample infants Parent...
Abstract Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples restricted EF assessment. This study used a broader battery of performance‐based measures as well parent‐rating scales 77 adolescents XXY (mean age = 12.5 years), recruited from clinical trial an outpatient clinic. Exploratory factor analyses were to create domains measures, similar measured using the Behavior Rating Inventory Executive Function Conners...
Students with sex chromosome aneuploidies (SCAs) are at increased risk for learning disabilities and often require individualized supports in the school setting. Parents of students rare disorders such as SCAs possess a unique understanding their child’s educational experiences play crucial role development successful support plans. This international survey study aimed to inductively capture parent perspectives on needs SCAs. youth ages 5‐21 years (n = 305) provided free‐text responses...
To review parent-report social skills measures to identify and recommend consensus outcomes for use in clinical trials of deficit children adolescents (ages 6-18 years) with neurofibromatosis type 1 (NF1).