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.

Selective Mutism in the Context of Autism and Bilingualism.

Juan is a 5-year-old boy who has been followed by a developmental-behavioral pediatrician and pediatric neuropsychologist since being diagnosed with language delay and autism spectrum disorder at age 2 years. He is otherwise healthy and was born at term after a healthy pregnancy. His primary language is Spanish, and he has minimal interactions in English.

Take a Closer Look: Considerations for Autism Spectrum Disorder Assessment in Female Children and Adolescents.

Assessment for autism spectrum disorder (ASD) in the pediatric female population entails unique diagnostic complexities. Females are often misdiagnosed, undiagnosed, or receive an ASD diagnosis at a later age than males. Male bias in ASD, masking behaviors, cultural norms, and overlapping neurodevelopmental comorbidities (such as attention deficit/hyperactivity disorder and intellectual disability) contribute to this phenomenon.

Is language translation enough in cross-cultural neuropsychological assessments of patients from Latin America?

Objective: The purpose of this review was to highlight the need to consider factors other than language when adapting tests across cultural groups and to offer a list of tests that have been adapted for use among patients from or descended from Latin American Countries. Despite efforts in the field through publications and workshops, the authors were aware of continued errors in cross-cultural assessment of these patients, resulting in misdiagnosis and unintentional inequitable care. Thus, we sought to reinforce the existing literature.

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.

[Formula: see text] Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research.

Neuropsychological assessment in rare neurodevelopmental disorders has provided clinicians and researchers with a more comprehensive view of natural history as well as opportunities for additional endpoints in treatment trials. While challenges to protocol development have been addressed in the literature, cultural considerations have been overly broad resulting in limited utility when including mixed international samples. Using experiences over the past five years with the development of ten different protocols for neurogenetic rare diseases, this paper presents further considerations for protocol development that are culturally sensitive to international samples.

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.

Variability in Neuropsychological Phenotypes in Patients with 22Q11.2 Deletion Syndrome: Case Series.

Children with 22q11.2 deletion syndrome (22q11.2DS) have diverse neurodevelopmental and mental health profiles involving cognitive impairments and behavioral symptomatology that evolve over the lifespan.

Clinical utility of the ECLECTIC framework in providing culturally-informed autism spectrum disorder evaluations: A pediatric case-based approach.

Social cognition does not exist within a vacuum. One's culture and surrounding social environment influence 1) development of social skills and behaviors, and 2) society's expectations regarding "normal" behavior versus behaviors consistent with the diagnosis of Autism Spectrum Disorder (ASD). Use of a comprehensive cultural framework such as Fujii's ECLECTIC model undergirds valid ASD testing by enhancing clinician awareness of potential biases during clinical decision-making and by supporting culturally relevant recommendations.

Transforming pediatric neuropsychology through video-based teleneuropsychology: an innovative private practice model pre-COVID-19.

Objective: In pediatric neuropsychology multiple barriers such as long wait times until an appointment, insurance coverage, and limited providers who are bilingual/bicultural or who sub-specialize in pediatric neuropsychology, often slow families from receiving diagnoses and interventions in a timely and affordable manner. This paper focuses on increasing accessibility through the development of a video-based, pediatric teleneuropsychology (TeleNP) practice model that was developed in a private practice 2 years before the COVID-19 pandemic.

Method: 'Design thinking' methodology to problem-solving was utilized to innovate the traditional neuropsychology practice model in under-served areas who may have limited financial and healthcare resources.

Practical Considerations in the Neuropsychological Assessment of Bilingual (Spanish-English) Children in the United States: Literature Review and Case Series.

The field of neuropsychology is becoming increasingly responsive to addressing the specific needs of an ever-growing Hispanic/Latinx population. As such, bilingualism and bilingual education are at the forefront of considerations for neuropsychologists. This paper examines models of bilingual academic instruction and levels of bilingualism and how they impact neuropsychological findings and diagnostic determinations in pediatrics.

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.

Predictors of independent living status in adult survivors of childhood cancer: a report from the Childhood Cancer Survivor Study.

Background: Adult survivors of childhood cancer and their siblings are compared on one of the most salient developmental milestones of adulthood, the ability to live independently.

Procedure: Adult survivors of childhood cancers (n = 6,047) and siblings (n = 2,326), all 25 years of age and older, completed a long-term follow-up questionnaire that assessed adaptive, neurocognitive, and psychological functioning, as well as demographic and health status. Multivariable logistic regression analyses and structural equation modeling (SEM) were used to identify predictors of independent living.