Mutant Huntingtin Drives Development of an Advantageous Brain Early in Life: Evidence in Support of Antagonistic Pleiotropy.

Objective: Huntington's disease (HD) is a neurodegenerative disease caused by a triplet repeat expansion within the gene huntingtin (HTT). Antagonistic pleiotropy is a theory of aging that posits that some genes, facilitating individual fitness early in life through adaptive evolutionary changes, also augment detrimental aging-related processes. Antagonistic pleiotropy theory may explain a positive evolutionary pressure toward functionally advantageous brain development that is vulnerable to rapid degeneration.

Reassessing the Use of Race in Clinical Algorithms: An Interactive, Case-Based Session for Medical Students Using eGFR.

Introduction: Medical curricula implicitly teach that race has a biological basis. Clinical rotations reinforce this misconception as race-based algorithms are used to guide clinical decision-making. This module aims to expose the fallacy of race in clinical algorithms, using the estimated glomerular filtration rate (eGFR) equation as an example.

Sex differences in the association of pretransfusion haemoglobin and cognition in preterm infants.

Objectives: To assess sex-specific differences in the association between pre-transfusion haemoglobin values and early neurodevelopmental function.

Design: Observational follow-up of infants with birth weights <1000 g and gestational ages 22-28 weeks who were enrolled in the NICHD Neonatal Research Network Transfusion of Prematures (TOP) Trial at 19 U.S.

White matter tract integrity in isolated oral clefts: relationship to cognition and reading skills.

Children with isolated cleft of the lip and/or palate (iCL/P) have been shown to be at risk for impaired reading ability. Structural and functional neuroimaging studies have revealed subtle morphological and functional abnormalities correlated to cognition and reading ability. However, the integrity of white matter tracts and their potential relationship to reading performance in iCL/P is under-studied.

Self-concept and academic achievement in children with chronic kidney disease.

Background: Within the pediatric population, a positive self-concept is associated with better academic achievement. Children with chronic kidney disease (CKD) are at risk for lower quality of life and academic underachievement. Little is known about self-concept among children with CKD and how self-concept influences academic achievement.

Psychosocial Outcomes in Children with Cleft Lip and/or Palate: Associations of Demographic, Cleft Morphologic, and Treatment-Related Variables.

Objective: To determine associations of demographic, morphologic, and treatment protocol parameters with quality of life (QoL), appearance/speech satisfaction, and psychological adjustment.

Design: Observational study utilizing retrospective report of protocol variables and current outcome variables.

Setting: Six North American cleft treatment clinics.

Using fNIRS to evaluate ADHD medication effects on neuronal activity: A systematic literature review.

Background: Functional near infrared spectroscopy (fNIRS) is a relatively non-invasive and inexpensive functional neuroimaging technique that has shown promise as a method for understanding the differences in neuronal activity associated with various neurodevelopmental conditions, including ADHD. Additionally, fNIRS has been suggested as a possible tool to understand the impact of psychotropic medications on brain activity in individuals with ADHD, but this approach is still in its infancy.

Objective: The purpose of this systematic literature review was to synthesize the extant research literature on the use of fNIRS to assess the effects of ADHD medications on brain activity in children and adolescents with ADHD.

Neurocognitive deficits may not resolve following pediatric kidney transplantation.

Background: Pediatric chronic kidney disease (CKD) patients are at risk for cognitive deficits with worsening disease progression. Limited, existing cross-sectional studies suggest that cognitive deficits may improve following kidney transplantation. We sought to assess cognitive performance in relationship to kidney transplantation and kidney-specific medical variables in a sample of pediatric kidney transplant patients who provided cross-sectional and longitudinal observations.

Screening for Academic Risk Among Students With Cleft Lip and/or Palate: Patterns of Risk and Qualities of Effective Tools.

This study evaluated the effectiveness of academic screening measures in relation to parent-reported diagnoses. Multicenter, retrospective cohort study including structured interviews, questionnaires, and chart reviews. Six North American cleft centers.

A Multisite Study Investigating Child and Parent Proxy Reported Quality of Life in Children With Cleft Lip and/or Palate.

This observational, multisite cohort study explored health-related quality of life (HRQoL) in children with cleft lip and/or palate (CL/P), including interrater agreement and ratings for this group relative to clinical cutoff scores and published means for healthy and chronically ill children. Participants (338 children ages 8-10 years, 45.9% male and their parents, 82.

Behavioral features in child and adolescent huntingtin gene-mutation carriers.

Introduction: We compared neuropsychiatric symptoms between child and adolescent huntingtin gene-mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between neuropsychiatric traits and striatal development.

Methods: Participants between 6 and 18 years old were recruited from families affected by Huntington's disease and tested for the huntingtin gene expansion.

Sex Differences in the Association of Pretransfusion Hemoglobin Levels with Brain Structure and Function in the Preterm Infant.

Objective: To assess sex-specific differences in early brain structure and function of preterm infants after red blood cell (RBC) transfusions.

Study Design: A single-center subset of infants with a birth weight <1000 g and gestational age 22-29 weeks were enrolled from the National Institute of Child Health and Human Development's Neonatal Research Network Transfusion of Prematures Trial. Hemoglobin (Hb) concentration obtained directly before each transfusion (pretransfusion Hb [ptHb]) was obtained longitudinally throughout each infant's neonatal intensive care unit stay and used as a marker of degree of anemia (n = 97).

Characterizing academic performance in pediatric acute lymphoblastic leukemia with population-based achievement tests.

Background: Recent shifts from radiation to chemotherapy-based treatment for acute lymphoblastic leukemia (ALL) have contributed to reduced long-term morbidity. Despite this, ALL survivors remain at increased risk for long-term cognitive impairments.

Aim: To identify demographic and treatment factors associated with school performance in pediatric survivors of ALL.

Brain Developmental Trajectories in Children and Young Adults with Isolated Cleft Lip and/or Cleft Palate.

The present study evaluated brain development in persons with isolated cleft lip and/or cleft palate (iCL/P) compared to unaffected controls using an accelerated longitudinal design. A sample of 134 males and females, ages 7-27 years, with iCL/P (184 observations, total) was compared to 144 unaffected controls (208 evaluations, total) on Wechsler Index scores and volumetric data from structural MRI scans. Boys with isolated cleft palate had verbal IQ 15.

A preliminary examination of expressive writing in boys with isolated orofacial clefts.

Background: Children with isolated cleft of the lip and/or palate (iCL/P) are at a higher risk for language and reading issues. The current pilot study evaluated concurrent writing skills of children with iCL/P compared to unaffected participants with average (uAR) and impaired (uIR) reading. It was hypothesized that children with iCL/P would perform lower than age-expectations.

Brain structure and neural activity related to reading in boys with isolated oral clefts.

The purpose of this study was to evaluate brain structure and function in participants with iCL/P and unaffected controls. Effects of cleft presence and reading status (average vs impaired) were evaluated. Males, ages 8-11 years old, including 26 with iCL/P and 57 unaffected peers were recruited and coded for reading status (average vs impaired).

Age-Related Cognitive Changes as a Function of CAG Repeat in Child and Adolescent Carriers of Mutant Huntingtin.

Limited data exists regarding the disease course of Huntington's Disease (HD) in children and young adults. Here, we evaluate the trajectory of various cognitive skill development as a function of cytosine-adenine-guanine (CAG) repeat length in children and adolescents that carry the mutation that causes HD. We discovered that the development of verbal skills seems to plateau earlier as CAG repeat length increases.

Retrospective Evaluation of Number of Surgeries and Parent Ratings of Academic and Behavioral Functioning Among Children With Isolated Oral Clefts.

Objective: The purpose of this study was to evaluate possible relationships between number of surgeries and parent ratings of academic functioning among children with isolated oral clefts.

Design: Multicenter, retrospective cohort study including structured interviews, questionnaires, and chart reviews.

Setting: Completion of questionnaires occurred during clinical visits at 6 different cleft centers across North America.

Early pediatric chronic kidney disease is associated with brain volumetric gray matter abnormalities.

Background: The impact of pediatric chronic kidney disease (pCKD) on the brain remains poorly defined. The objective of this study was to compare brain morphometry between children with early-stage pCKD and typically developing peers using structural magnetic resonance imaging (MRI).

Methods: The sample age range was 6-16 years.

Developmental Trajectory of Height, Weight, and BMI in Children and Adolescents at Risk for Huntington's Disease: Effect of mHTT on Growth.

Background: The gene (Huntingtin or HTT) causing Huntington's disease (HD) is vital for development and is expressed throughout the brain and body lifelong. The mutant form (mHTT) may influence growth and development.

Objective: To determine the impact of mHTT on human measures of growth, including height, weight, and body mass index (BMI), between child and adolescent carriers of mHTT and control peers.

Behavioral Deficits in Juvenile Onset Huntington's Disease.

Reports of behavioral disturbance in Juvenile-Onset Huntington's Disease (JOHD) have been based primarily on qualitative caregiver reports or retrospective medical record reviews. This study aims to quantify differences in behavior in patients with JOHD using informant- and self-report questionnaires. Informants of 21 children/young adults (12 female) with JOHD and 115 children/young adults (64 female) with a family history of Huntington's Disease, but who did not inherit the disease themselves (Gene-Non-Expanded; GNE) completed the Behavior Rating Inventory of Executive Function (BRIEF) and the Pediatric Behavior Scale (PBS).

Preliminary evaluation of pre-speech and neurodevelopmental measures in 7-11-week-old infants with isolated oral clefts.

Background: The purpose of this research study was to evaluate the earliest markers of vocal functioning and neurological development in infants with isolated oral cleft of the lip and/or palate (iCL/P).

Methods: Participants were recruited through advertisements and clinic visits at a local mid-western university. A total of eight participants (four unaffected and four with iCL/P), ranging in age from 7.

Long-term outcome of brain structure in female preterm infants: possible associations of liberal versus restrictive red blood cell transfusions.

Background: Preterm infants who receive differential red blood cell (RBC) transfusions at birth may show brain structure differences across development, including abnormalities in white matter (WM) structure and organization. This study investigated long-term outcomes of brain structure in female infants born preterm, at an average age of 13 years old, who received red blood cell (RBC) transfusions in the neonatal period according to a liberal or restrictive approach. Results from this study will increase understanding of the effects of transfusion on the developing brain.

Abnormal brain development in child and adolescent carriers of mutant huntingtin.

Objective: The huntingtin gene is critical for the formation and differentiation of the CNS, which raises questions about the neurodevelopmental effect of CAG expansion mutations within this gene () that cause Huntington disease (HD). We sought to test the hypothesis that child and adolescent carriers of exhibit different brain growth compared to peers without the mutation by conducting structural MRI in youth who are at risk for HD. We also explored whether the length of CAG expansion affects brain development.