Digital Commons Network^™

Consensus Parameter: Research Methodologies To Evaluate Neurodevelopmental Effects Of Pubertal Suppression In Transgender Youth., Diane Chen, John F Strang, Victoria D Kolbuck, Stephen M Rosenthal, Kim Wallen, Deborah P Waber, Laurence Steinberg, Cheryl L Sisk, Judith Ross, Tomas Paus, Sven C Mueller, Margaret M Mccarthy, Paul E Micevych, Carol L Martin, Baudewijntje P C Kreukels, Lauren Kenworthy, Megan M Herting, Agneta Herlitz, Ira R J Hebold Haraldsen, Ronald Dahl, Eveline A Crone, Gordon J Chelune, Sarah M Burke, Sheri A Berenbaum, Adriene M Beltz, Julie Bakker, Lise Eliot, Eric Vilain, Gregory L Wallace, Eric E Nelson, Robert Garofalo

Department of Pediatrics Faculty Papers

Purpose: Pubertal suppression is standard of care for early pubertal transgender youth to prevent the development of undesired and distressing secondary sex characteristics incongruent with gender identity. Preliminary evidence suggests pubertal suppression improves mental health functioning. Given the widespread changes in brain and cognition that occur during puberty, a critical question is whether this treatment impacts neurodevelopment.

Methods: A Delphi consensus procedure engaged 24 international experts in neurodevelopment, gender development, puberty/adolescence, neuroendocrinology, and statistics/psychometrics to identify priority research methodologies to address the empirical question: is pubertal suppression treatment associated with real-world neurocognitive sequelae? Recommended study approaches reaching 80% consensus were …

A Novel Noninvasive Approach For Evaluating Work Of Breathing Indices In A Developmental Rat Model Using Respiratory Inductance Plethysmography., Yan Zhu, Zubair H. Aghai, Suhita G. Betal, Michael Favara, Gina Fong, Tariq Rahman, Thomas H. Shaffer

Department of Pediatrics Faculty Papers

Pulmonary function testing (PFT) is an important component for evaluating the outcome of experimental rodent models of respiratory diseases. Respiratory inductance plethysmography (RIP) provides a noninvasive method of PFT requiring minimal cooperation. RIP measures work of breathing (WOB) indices including phase angle (Ф), percent rib cage (RC %), breaths per minute (BPM), and labored breathing index (LBI) on an iPad. The aim of this study was to evaluate the utility of a recently developed research instrument, pneuRIP, for evaluation of WOB indices in a developmental rat model. Sprague Dawley rats (2 months old) were commercially acquired and anaesthetised with isoflurane. …

Variation In Early Number Skills And Mathematics Achievement: Implications From Cognitive Profiles Of Children With Or Without Turner Syndrome, Sarah L Lukowski, Emily R Padrutt, Kyriakie Sarafoglou, Judith L. Ross, Jennifer R Law, Rachel E Olson, Michèle M M Mazzocco

Department of Pediatrics Faculty Papers

Individuals with Mathematics Learning Disabilities have persistent mathematics underperformance but vary with respect to their cognitive profiles. The present study examined mathematics ability and achievement, and associated mathematics-specific numerical skills and domain-general cognitive abilities, in young children with Turner syndrome compared to their matched peers. We utilized two independent peer groups so that group comparisons would account for verbal skills, a hypothesized strength of girls with Turner syndrome, and nonsymbolic magnitude comparison skills, a hypothesized difference of girls with Turner syndrome. This individual matching approach afforded characterization of mathematics profiles of girls with Turner syndrome and girls without Turner syndrome …

Peripubertal Serum Concentrations Of Organochlorine Pesticides And Semen Parameters In Russian Young Men., Ramy Abou Ghayda, Oleg Sergeyev, Jane S Burns, Paige L Williams, Mary M Lee, Susan A Korrick, Luidmila Smigulina, Yury Dikov, Russ Hauser, Lidia Mínguez-Alarcón

Department of Pediatrics Faculty Papers

BACKGROUND: Epidemiologic literature on the relation of organochlorine pesticides (OCPs) with semen quality among adult men has been inconclusive, and no studies have prospectively explored the association between peripubertal serum OCPs and semen parameters in young men.

OBJECTIVE: To evaluate prospective associations of peripubertal serum concentrations of hexachlorobenzene (HCB), β-hexachlorocylohexane (β-HCH), and p,p'-dichlorodiphenyldichloroethylene (p,p'-DDE) with semen parameters among young Russian men.

METHODS: This prospective cohort study included 152 young men who enrolled in the Russian Children's Study (2003-2005) at age 8-9 years and were followed annually until young adulthood. HCB, β-HCH, and p,p'-DDE concentrations were measured at the CDC by …

Hearing Loss In Mucopolysaccharidoses: Current Knowledge And Future Directions., Jeremy Wolfberg, Keerthana Chintalapati, Shunji Tomatsu, Kyoko Nagao

Department of Pediatrics Faculty Papers

Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a deficiency of one of the enzymes involved in the degradation of glycosaminoglycans. Hearing loss is a common clinical presentation in MPS. This paper reviews the literature on hearing loss for each of the seven recognized subtypes of MPS. Hearing loss was found to be common in MPS I, II, III, IVA, VI, and VII, and absent from MPS IVB and MPS IX. MPS VI presents primarily with conductive hearing loss, while the other subtypes (MPS I, MPS II, MPS III, MPS IVA, and MPS VII) can present with …

Implementation Of Family Psychosocial Risk Assessment In Pediatric Cancer With The Psychosocial Assessment Tool (Pat): Study Protocol For A Cluster-Randomized Comparative Effectiveness Trial, Anne E Kazak, Janet A Deatrick, Michele A Scialla, Eric Sandler, Rebecca E Madden, Lamia P Barakat

Department of Pediatrics Faculty Papers

BACKGROUND: Childhood cancer affects and is affected by multiple levels of the social ecology, including social and relational determinants of health (e.g., economic stability, housing, childcare, healthcare access, child and family problems). The 2015 Standards of Psychosocial Care in Pediatric Cancer outline optimal psychosocial care sensitive to these ecological factors, starting with assessment of psychosocial healthcare needs to promote medical and psychosocial outcomes across all children with cancer. To address the first standard of family psychosocial assessment, the Psychosocial Assessment Tool (PAT) is a validated screener ready for broad implementation.

METHOD: The PAT will be implemented across a national sample …

Ultra-Low-Dose Estrogen Therapy For Female Hypogonadism., Yukihiro Hasegawa, Tomoyo Itonaga, Kento Ikegawa, Satsuki Nishigaki, Masanobu Kawai, Eri Koga, Hideya Sakakibara, Judith L Ross

Department of Pediatrics Faculty Papers

In females, endogenous estrogen secretion increases gradually before pubertal development. The benefits of low-dose estrogen therapy in patients with Turner syndrome were originally discussed by Ross et al. and Quigley et al. These seminal studies used ethinyl estradiol (EE2), starting at a dose of 25 ng/kg/d. We hypothesized that the initial dosage of estrogen could be titrated to more closely mimic physiological increments of endogenous estrogen. Therefore, our recent study initiated EE2 treatment at a dosage of 1-2 ng/kg/d, an ultra-low-dose estrogen therapy in pediatric patients with Turner syndrome. The ultra-low-dose estrogen therapy in this syndrome produced a good …

Pediatric Resident Knowledge, Experience, Comfort, And Perceived Competency In Providing Sibling Psychosocial Support., David Buchbinder, Sonam Sidhu, Melissa A. Alderfer, Anne Lown, Russ C. Kolarik, Tommy Wang

Department of Pediatrics Faculty Papers

This article is the author’s final published version in International Journal of Medical Education, Volume 11, March 2020, Pages 73-75.

The published version is available at https://doi.org/10.5116/ijme.5e63.6a46. Copyright © Buchbinder et al.

Mucopolysaccharidosis Iva: Diagnosis, Treatment, And Management., Kazuki Sawamoto, José Víctor Álvarez González, Matthew Piechnik, Francisco J. Otero, Maria L. Couce, Yasuyuki Suzuki, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a …

Long-Term Follow-Up Posthematopoietic Stem Cell Transplantation In A Japanese Patient With Type-Vii Mucopolysaccharidosis, Kenji Orii, Yasuyuki Suzuki, Shunji Tomatsu, Tadao Orii, Toshiyuki Fukao

Department of Pediatrics Faculty Papers

The effectiveness of hematopoietic stem cell transplantation (HSCT) for type-VII mucopolysaccharidosis (MPS VII, Sly syndrome) remains controversial, although recent studies have shown that it has a clinical impact. In 1998, Yamada et al. reported the first patient with MPS VII, who underwent HSCT at 12 years of age. Here, we report the results of a 22-year follow-up of that patient post-HSCT, who harbored the p.Ala619Val mutation associated with an attenuated phenotype. The purpose of this study was to evaluate changes in physical symptoms, the activity of daily living (ADL), and the intellectual status in the 34-year-old female MPS VII patient …

Assessment Of Activity Of Daily Life In Mucopolysaccharidosis Type Ii Patients With Hematopoietic Stem Cell Transplantation., Yasuyuki Suzuki, Madeleine Taylor, Kenji Orii, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu

Department of Pediatrics Faculty Papers

The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact. This study aims to evaluate the long-term effectiveness of HSCT using the activity of daily living (ADL) scores in patients with MPS II. Sixty-nine severely affected MPS II patients (19 patients who received HSCT and 50 untreated patients) and 40 attenuated affected patients (five with HSCT and 35 untreated) were investigated by a simplified ADL questionnaire. The frequency of clinical findings and the scores of ADL (verbal, gross motor, and the level …