Browsing by Author "Kata, Karolina"
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Item A Comparison of Autism Spectrum Disorder (ASD) and a dual diagnosis of ASD + Developmental Coordination Disorder (DCD): A Case Study(2019-03-05) Kata, Karolina; Ganesh, Abhinaya; Mauk, Joyce; Bowman, Paul; Bailey, Laurie; Hamby, Tyler; Miller, Haylie; Chang, ShannonBackground: Autism Spectrum Disorder (ASD), Developmental Coordination Disorder (DCD), and the dual diagnosis of ASD+DCD often have longer diagnostic trajectories given the complexity of their symptom profiles and associated difficulty with differential diagnosis. While first concerns may originate from parents, schools, or medical professionals, it may take years of waiting and assessments to reach a final diagnosis. Patients with co-occurring disorders can undergo a lengthier process as symptoms of 1 disorder may mask symptoms of another and create confusions within a care team. By understanding differences in the lines of service visited, symptoms, and parent concerns exist for patients with and without a dual diagnosis, we aim to identify potential targets for improvement in the diagnostic process. Case Information: Patient 1 (ASD+DCD) is a Caucasian female who presented with first concerns at 2 years and reached an ASD diagnosis at 6.25 years and a DCD diagnosis at 2 years. She was recommended and utilized speech therapy (ST), occupational therapy (OT), and physical therapy (PT). She had 9 visits with professionals and was assessed with the Ages and Stages Questionnaire (ASQ), Modified Checklist for Autism in Toddlers (M-CHAT), and the Autism Diagnostic Observation Schedule (ADOS). Patient 2 (ASD) is a Hispanic male with first concerns at 2 years and reached a final diagnosis at 6.5 years. While he was recommended ST, OT, and PT, he only utilized ST. He had 10 visits with professionals before reaching his diagnosis and was assessed with the ASQ, ADOS, and Social Communication Questionnaire (SCQ). Both were first seen by Pediatrics and were given a final diagnosis at Child Study Center. Conclusions: The age when a reliable diagnosis for ASD or DCD can be made is 1.5 and 5 years, respectively. However, the average age of diagnosis for ASD or DCD is 4.9 and 7.8 years. While patient 1 reached her DCD diagnosis at 2 years, both patients received their ASD diagnoses later than average. Several factors, such as the physician’s knowledge, clinical resources, sex, socioeconomic status, cultural and language barriers, and co-occurrence with ADHD may play a role in explaining this delay in diagnosis.Item A multi-center retrospective investigation of diagnostic, referral, and early management pathways for pediatric patients with Autism Spectrum Disorder and Developmental Coordination Disorder.(2018-03-14) Miller, Haylie; Mauk, Joyce; Bowman, W. Paul; Bailey, Laurie; Hamby, Tyler; Kata, KarolinaBackground: Autism Spectrum Disorder (ASD) and Developmental Coordination Disorder (DCD) can co-occur, but diagnostic procedures vary widely. Some overlap exists in behavioral, motor, and social problems in ASD and DCD, which adds ambiguity to the diagnostic process. Provider- and patient-centered factors contribute to the differences in pathways to care; understanding these factors may lead to more robust guidelines for assessment of patients with suspected ASD, DCD, and ASD+DCD. Objective: Measure prevalence and describe the diagnostic pathway of ASD+DCD at 3 healthcare sites, and describe the diagnostic pathways reported for ASD, DCD, and ASD+DCD. Identify provider- and patient- centered variables related to diagnostic, early management, and referral patterns. Hypothesis: A combination of patient- and provider-centered variables will contribute to differences in diagnostic and management outcomes for patients with ASD, DCD, and ASD+DCD. Methods: This retrospective study evaluated patients diagnosed with ASD, DCD, and ASD+DCD in the Cook Children’s Medical Center (CCMC) network, UNT Health Science Center (UNTHSC), and the Child Study Center (CSC). Charts included patients ages 0-21 years at the time of first entry, with documented diagnosis of ASD, DCD, or ASD+DCD. We collected primary and co-occurring diagnoses, medications, developmental milestones, test scores, social history, time between first concern visit and diagnosis, and services consulted. Results: At CCMC, the number of patients with ASD was 5520, with DCD was 424, and ASD+DCD was 59. At CSC the number of patients with ASD is 1559, with DCD is 46, and ASD+DCD, 232. UNTHSC data collection will take place in March 2018. We used a stratified random sample of 50 subjects from each diagnostic group (ASD, DCD, ASD+DCD) for initial analyses. Analyses are ongoing, and include correlations and analyses of variance to identify relationships and group differences among patient- and provider-centered variables. Conclusion: The number of patients with ASD, DCD, and ASD+DCD served by CCMC and CSC is significantly lower than anticipated given prevalence estimates. ASD+DCD prevalence was higher at CSC than at CCMC. Assessment and diagnostic procedures at CSC are more extensive, and include developmental motor testing. Higher surveillance at this site may explain the higher observed prevalence of ASD+DCD. Further planned analyses will illuminate patient- and provider-centered differences among the 3 groups.Item A rare case of primary germinoma in corpus callosum.(2019-03-05) Anderson, Jenna; Ellis, Thomas; Kata, KarolinaBackground Primary intracranial germinoma is a rare lesion which accounts for approximately 0.5–2% of all central nervous system (CNS) tumors. Generally, this neoplasm occurs in the midline structures with the majority located in the pineal and suprasellar regions. Germinoma presenting primarily in the corpus callosum is highly unusual and reportings of similar cases in scientific literature are limited. The aim of this case report is to describe clinical features, imaging findings, and management of a primary germinoma uniquely presenting in the corpus callosum. Case Information 21-year-old man with Parinaud syndrome, gait instability, altered mood, and remote history of orbital trauma presented initially for an ophthalmology evaluation of vision change. These symptoms prompted intracranial imaging, including MRI which revealed an enhancing lesion in the corpus callosum, evidence of obstructive hydrocephalus, and an arachnoid band in the region of the aqueduct of Sylvius. The lesion was believed to potentially represent either a primary CNS lymphoma, glioblastoma, anaplastic astrocytoma, or tumefactive demyelinating disease. The patient underwent a right frontal stereotactic brain biopsy and third ventriculostomy. Pathologic evaluation with immunohistochemistry and tumor marker analysis confirmed a diagnosis of primary germinoma. Post-operative plan included oncology consultation to establish chemotherapy and radiation treatment. Additional imaging showed corpus callosum mass with evidence of diffuse extension in the surrounding structures. Interestingly, in contrast to pre-operative imaging, enhancement of the pineal gland area was noted and provided additional rationale for development of obstructive hydrocephalus. Conclusion Primary germinoma of corpus callosum has not yet been extensively described in literature. The present case demonstrates that primary germinoma can occur in uncommon midline structures and present with unique imaging findings. This report contributes to improving recognition and further understanding of clinical presentation and course and potentially to optimize the treatment in similar future case.Item Clinical and radiological response to combined BRAF and MEK inhibitors therapy in a case of recurrent, progressive pleomorphic xanthoastrocytoma (PXA).(2020) Zhu, Jay-Jiguang; Ware, Cornelius; Bhartacharjee, Meena; Arevalo-Espejo, Octavio; Blanco, Angel; Tandon, Nitin; Kata, KarolinaBackground: BRAF gene mutations are well documented in a subset of gliomas, including pleomorphic xanthoastrocytoma (PXA), ganglioglioma, pilocytic astrocytoma, and epithelioid glioblastoma. PXA is rare, accounting for less than 1% of all astrocytic tumors, and two-thirds harbor a specific BRAF point mutation at V600E. Although the development of targeted BRAF inhibitors has dramatically improved the clinical outcomes for patients with BRAF V600E mutant tumors, such as melanoma, resistance develops in the majority of cases. Additional treatment with a MEK inhibitor could improve tumor control and survival. Application of dual inhibitors in PXA is rarely reported. Case Information: We report a case of 29-year-old woman with recurrent PXA with BRAF V600E mutation whose tumor was resistant to standard and salvage treatments including resections, thermal ablation, chemotherapy, and radiation, with partial response for 68 months. With disease progression while on temozolomide, a targeted treatment with combined BRAF inhibitor vemurafenib (Zelboraf) and MEK inhibitor cobimetinib (Cotellic) were initiated. The patient demonstrated significant clinical and radiological response with no disease progression for 10 months at time of this presentation. She continues therapy with the combined inhibitor therapy, with minimal side effects. Conclusions: PXA poses a therapeutic challenge due to its rarity, lack of consensus guidelines for treatment at recurrence, and no effective chemotherapeutic drugs. This case report describing significant response is encouraging. It adds to a small number of published reports highlighting the utility of BRAF and MEK combined inhibitor therapy in refractory PXA.Item Estimated community prevalence of Autism Spectrum Disorder with and without co-occurring Developmental Coordination Disorder significantly exceeds observed prevalence at two Tarrant County sites offering primary and secondary care.(2018-03-14) Miller, Haylie; Mauk, Joyce; Bowman, W. Paul; Bailey, Laurie; Hamby, Tyler; Kata, KarolinaBackground: Autism Spectrum Disorder (ASD) can co-occur with Developmental Coordination Disorder (DCD), and ASD+DCD requires integrated care. Cook Children’s Medical Center (CCMC) and the Child Study Center (CSC) are the most comprehensive options for care in Tarrant County, offering integrated developmental pediatrics and secondary ASD services. Lack of integration between primary and secondary services can lead to discontinuity in care or incomplete diagnosis, or prevent families from entering the pathway to ASD-related services altogether. Objective: Determine whether CCMC and CSC serve a patient population proportional to the estimated prevalence of ASD in Tarrant County. If not, it will highlight a need for more primary care sites with integrated autism services. Hypothesis: The number of patients with ASD, DCD, and ASD+DCD served by CCMC and CSC will be significantly lower than estimated prevalence in Tarrant County. Method: This retrospective study evaluated patients who were 0-21 years old at the time of first chart entry, with a diagnosis of ASD, DCD, or ASD+DCD. We compared the observed patient population of ASD, DCD, and ASD+DCD at CCMC and CSC to the expected Tarrant County population. Results: At current prevalence estimates, the expected population of children in Tarrant County with ASD is 8,078, and with DCD is 37,695. At CCMC, the number of patients since 1994 with ASD was 5,520, with DCD was 424, and with ASD+DCD was 59. At CSC, the number of patients since 1994 with ASD was 1,559, with DCD was 46, and with ASD+DCD was 232. The CCMC EMR contained 32 different diagnostic codes for ASD (e.g., Asperger’s Syndrome, active infantile autism, autistic disorder of childhood onset) and 4 codes for DCD (e.g., dyspraxia, developmental coordination disorder). Conclusions: The observed number of patients served was disproportionate to the estimated population. Other public agencies serve a small, non-overlapping population with ASD, unlikely to make up the difference between the estimated and observed population. There is a clear gap in the number of patients with ASD, DCD, and ASD+DCD served at integrated care sites. Many children may be (1) undiagnosed, (2) diagnosed but not seeking care in an integrated care site, or (3) inaccurately diagnosed. Minority groups are at high risk for misdiagnosis; since 41.6% of the Tarrant County population is Black or Hispanic, health disparities may limit their access to of comprehensive evaluation and care.Item Treated prevalence of Austism Spectrum Disorder (ASD), Developmental Coordination Disorder (DCD), and Autism Spectrum Disorder with co-occurring DCD is significantly less than estimated prevalence in Tarrant County(2020) Kata, Karolina; Chang, Shannon; Ganesh, Abhinaya; Mauk, Joyce; Bowman, William; Bailey, Laurie; Hamby, Tyler; Miller, Haylie; Pruitt, BlakeAim: Autism Spectrum Disorder (ASD) and Developmental Coordination Disorder (DCD) commonly co-occur in pediatric patients. However, few studies have assessed the circumstances under which this co-diagnosis is assigned, in order to develop best-practice recommendations. Our multi-center retrospective chart review at Cook Children's Medical Center (CCMC) network, the Child Study Center (CSC), and the University of North Texas Health Science Center (UNTHSC) aims to identify common and differing elements along the diagnostic pathway for individuals with ASD, DCD, and ASD+DCD. Method: Using the electronic medical record of UNTHSC Health, we retrospectively evaluated charts from 2008-present for patients aged 0-21 at first entry. At UNTHSC, the number of patients since 2008 with ASD was 455, DCD was 677, and ASD+DCD was 21. These data were pooled with data previously collected from the other two sites. A maximum of 50 patients per site with ASD+DCD were age- and sex-matched to patients with ASD and patients with DCD. The final sample consisted of 121 non-duplicate ASD+DCD charts, 150 ASD charts, and 150 DCD charts. Results: In-depth analysis of charts is ongoing, and will aid in identifying whether patterns of patient- and provider-based variables differ across sites or diagnostic groups for the final sample Significance: The prevalence of DCD and ASD+DCD was strikingly low across all sites. Notable variability in EMR coding likely contributes to difficulty achieving diagnostic consistency and standardizing care. Undiagnosed or misdiagnosed children are susceptible to reduced access to resources and intervention.