Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.

Background: This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes.

Methods: We performed a single-center cross sectional data collection along with retrospective medical chart review in patients with a genetic diagnosis of CLN7. This study received ethical approval by the University of Texas Southwestern Medical Center Institutional Review Board.

Quality of Life Among Caregivers of Children with Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder: A Cross Sectional Study.

Caregivers of children with attention deficit-hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) experience more stress than caregivers of typically developing children but there is limited research evaluating caregivers' quality of life (QoL). This study aimed to describe the association of caregiver QoL in children with ASD and/or ADHD. This study included patients with ADHD and/or ASD seen in one pediatric specialty clinic between September 2018-August 2020.

Reliable Digit Span Scores Among Latin American Monolingual Spanish Speakers.

Objective: The Reliable Digit Span (RDS) is an embedded measure used to assess performance validity. The purpose of this study was to determine whether the RDS can be used with Spanish speakers from Latin America.

Method: The Digit Span subtest of the Wechsler Adult Intelligence Scale-IV was administered to 66 Spanish-speaking patients, 66 English-speaking patients, and 30 Spanish-speaking normal controls.

A cross-sectional natural history study of aspartylglucosaminuria.

Aspartylglucosaminuria (AGU) is a rare lysosomal storage disorder that causes stagnation of development in adolescence and neurodegeneration in early adulthood. Precision therapies, including gene transfer therapy, are in development with a goal of taking advantage of the slow clinical course. Understanding of disease natural history and identification of disease-relevant biomarkers are important steps in clinical trial readiness.

ECHS1 deficiency and its biochemical and clinical phenotype.

ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018); Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, 7: 46]) and valine catabolism ([Fong and Schulz (1977); Purification and properties of pig heart crotonase and the presence of short chain and long chain enoyl coenzyme A hydratases in pig and guinea pig tissues, 252: 542-547]; [Wanders et al. (2012); Enzymology of the branched-chain amino acid oxidation disorders: The valine pathway, 35: 5-12]), and the dysfunction of SCEH leads to a severe Leigh or Leigh-like Syndrome phenotype in patients ([Haack et al.

Who gets certified by the American Board of Professional Psychology and why: A diversity survey.

Objective: To measure the profile of diversity among specialists certified by the American Board of Professional Psychology (ABPP).

Method: A survey of ABPP specialists consisting of 18 demographic questions, and two questions regarding board certification and experience with diversity.

Results: Although ABPP specialists appear to be more diverse in certain aspects, especially regarding sex/gender (female, 43% vs 34% in prior survey), the majority remain non-Hispanic, White in race/ethnicity (87%), followed by only 3% Black, and 3% Hispanic/Latinx representation.

Examining the impact of physical activity on sleep quality and executive functions in children with autism spectrum disorder: A randomized controlled trial.

Sleep disturbance and executive dysfunction have been widely reported in children with autism spectrum disorder. While the positive impacts of physical activity on sleep quality and cognition are documented in children with typical development, similar studies in children with autism spectrum disorder are scarce. The objective of this study was to examine the impact of physical activity on sleep quality and cognition in children with autism spectrum disorder.

Pitt-Hopkins Syndrome: A Unique Case Study.

Objectives: Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Most cases are characterized by severe intellectual disability, absent speech, motor delays, and autism spectrum disorder. Many have abnormal brain imaging, dysmorphic facial features, and medical comorbidities: myopia, constipation, epilepsy, and apneic spells.

Supporting a Youth with Cerebellar Ataxia into Adolescence.

Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications.