A5084771685- Adolescent and Pediatric Healthcare
- Sexual Differentiation and Disorders
- Protein Tyrosine Phosphatases
- Childhood Cancer Survivors' Quality of Life
- Child and Adolescent Psychosocial and Emotional Development
- Diabetes Management and Research
- Family and Disability Support Research
- Urological Disorders and Treatments
- Autism Spectrum Disorder Research
- LGBTQ Health, Identity, and Policy
- Galectins and Cancer Biology
- Behavioral and Psychological Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Metabolism and Genetic Disorders
- Carbohydrate Chemistry and Synthesis
- Child Nutrition and Feeding Issues
- Genetics and Neurodevelopmental Disorders
- Hormonal and reproductive studies
- Otitis Media and Relapsing Polychondritis
- Reproductive Health and Technologies
- PI3K/AKT/mTOR signaling in cancer
- Child and Adolescent Health
- Infant Development and Preterm Care
- Family Support in Illness
- Neurogenetic and Muscular Disorders Research
Baylor College of Medicine
2015-2024
Texas Children's Hospital
2011-2023
National Center on Birth Defects and Developmental Disabilities
2019
Advisory Board Company (United States)
2011
Alfred I. duPont Hospital for Children
2004
Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed cancer. Individuals with may have distinctive craniofacial features, cardiac anomalies, growth developmental delays, as well dermatological, orthopedic, ocular, neurological issues; however, considerable overlap other RASopathies exists. Medical evaluation requires an understanding of the multifaceted...
Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)), distinctive facial features, a predisposition to papillomata malignant tumors, postnatal cerebellar overgrowth resulting in Chiari 1 malformation, cognitive disabilities. De novo germline mutations the proto-oncogene HRAS cause syndrome. Most affect glycine residues position 12 or 13, more than 80% of patients share...
Psychosocial screening has been recommended for pediatric patients with newly diagnosed type 1 diabetes and their families. Our objective was to assess a psychosocial protocol in its feasibility, acceptability families, ability predict early emerging complications, nonadherent family behavior, use of preventive psychology services.A total 125 caregivers were asked participate standardized interview after admission at large urban children's hospital new diagnosis diabetes. Medical records...
Abstract Costello syndrome is a rare congenital disorder typically characterized by severe failure‐to‐thrive, cardiac abnormalities including tachyarrhythmia and hypertrophic cardiomyopathy, distinctive facial features, predisposition to papillomata malignant tumors, neurologic abnormalities, developmental delay, mental retardation. Its underlying cause de novo germline mutations in the oncogene HRAS . Almost all affect one of glycine residues position 12 or 13 protein product. More than 80%...
Abstract Costello syndrome encompasses pre‐ and postnatal medical problems including polyhydramnios, failure to thrive, cardiac complications, an increased risk for solid tumors. Hypotonia developmental delay are typical in infancy, mental retardation can be diagnosed older patients. Previous studies on the cognitive development relied clinically cases. The recent discovery of heterozygous HRAS mutations allows molecular confirmation clinical diagnoses. We report here abilities adaptive...
The Gender Medicine Team (GMT), comprised of members with expertise in endocrinology, ethics, genetics, gynecology, pediatric surgery, psychology, and urology, at Texas Children's Hospital Baylor College formed a task force to formulate consensus statement on practice guidelines for managing disorders sexual differentiation (DSD) making sex assignments. GMT reviewed published evidence incorporated findings from clinical experience. Grading Recommendations, Assessment, Development, Evaluation...
Abstract Costello syndrome is a rare congenital disorder whose diagnosis based on clinical findings. The underlying genetic cause has not been identified. Common characteristics include failure to thrive, feeding problems, short stature, coarsening of facial features, developmental delay, mental retardation, skeletal cardiac complications, and increased risk for solid tumors. Given its rarity, existing literature limited regarding natural course. Developmental milestones intellectual...
Abstract Costello syndrome is a rare rasopathy caused by germline mutations in the oncogene HRAS resulting increased signal transduction through Ras/mitogen‐activated protein kinase pathway. In contrast to more common rasopathies, such as neurofibromatosis type 1 and Noonan syndrome, limited information available on standardized cognitive testing this cohort. Past research indicated mean average IQ mild mental retardation range, with strengths fluid reasoning (FR) weakness expressive...
To determine whether impairments in neurocognitive functioning are detectable at type 1 diabetes diagnosis and associated with subsequent glycemic control.Children/adolescents (N = 147) aged 5-18 years completed neuropsychological testing during their inpatient hospitalization for new-onset diabetes. Test scores were compared normative data using one-sample Student t tests. Children onset before 8 of age children 9-18 ANOVA, associations between performance control year postdiagnosis...
Abstract RASopathies are a group of genetic disorders that caused by genes affect the canonical Ras/mitogen‐activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding molecular consequences these anomalies, little movement has been made translating findings to clinic. This year, seventh International Symposium focused on expanding research knowledge we have gained over years enhance new discoveries field, ones hope can lead effective therapeutic...
Objective The aim of this study was to develop and validate a psychosocial screening tool predict risk for poor glycemic control in children with type 1 diabetes. Methods Participants seen psychological were 196 aged 3–18 yr at diabetes diagnosis. A index developed [mean hemoglobin A1c (HbA1c) ≥ 9.5%; 80 mmol/mol] 1–4 post Cutoff scores derived multiple levels from receiver operating characteristic (ROC) curves likelihood ratios (LRs). Discrimination calibration examined the sample,...
Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism‐spectrum disorder (ASD). We examined prevalence ASD symptoms 14 individuals (six females) age 1–18 years with molecularly confirmed CS. Caregivers completed Modified Checklist Autism Toddlers (M‐CHAT) ages 0–4 ( n = 7), and Social Communication Questionnaire (SCQ) 4 older 7). Age was associated meeting criteria: 5/7 (71.4%) younger children met cut‐off on...
An estimated 1.8% of U.S. adolescents identify as transgender, and when using expansive language to include diverse identities along the gender continuum (e.g., nonbinary, fluid), rates may be notably higher. Gender-diverse youth (GDY) experience significantly elevated depression, anxiety, suicidality, eating disorders relative general population. Youth with autism spectrum also appear report at higher than neurotypical youth. Gender-minoritized stress, including distal transgender related...