Demographic and socioeconomic characteristics of patients diagnosed with autism through the Rapid Interactive screening Test for Autism in Toddlers.

We evaluated the integration of the Rapid Interactive screening Test for Autism in Toddlers (RITA-T) model in a community, comparing autism spectrum disorder (ASD) toddlers' demographic and socioeconomic characteristics. Of 394 ASD toddlers, 323 were screened with RITA-T. Those screened were from more deprived areas, traveled farther and were diagnosed earlier.

Downfield Proton MRSI at 3 Tesla: A Pilot Study in Human Brain Tumors.

Purpose: To investigate the use of 3D downfield proton magnetic resonance spectroscopic imaging (DF-MRSI) for evaluation of tumor recurrence in patients with glioblastoma (GBM).

Methods: Seven patients (4F, age range 44-65 and mean ± standard deviation 59.3 ± 7.

A Phase 1 Study of Oral Vitamin D in Boys and Young Men With X-Linked Adrenoleukodystrophy.

Background And Objectives: There are no therapies for preventing cerebral demyelination in X-linked adrenoleukodystrophy (ALD). Higher plasma vitamin D levels have been linked to lower risk of inflammatory brain lesions. We assessed the safety and pharmacokinetics of oral vitamin D dosing regimens in boys and young men with ALD.

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes. The dihydroceramide desaturase Δ4-dihydroceramide desaturase 1 (DEGS1) acts in the last step of a sector of the sphingolipid pathway, de novo ceramide biosynthesis. Defects in DEGS1 cause the recently described hypomyelinating leukodystrophy-18 (HLD18) (OMIM #618404).

Consensus-Based Evaluation of Outcome Measures in Pediatric Stroke Care: A Toolkit.

Following a pediatric stroke, outcome measures selected for monitoring functional recovery and development vary widely. We sought to develop a toolkit of outcome measures that are currently available to clinicians, possess strong psychometric properties, and are feasible for use within clinical settings. A multidisciplinary group of clinicians and scientists from the International Pediatric Stroke Organization comprehensively reviewed the quality of measures in multiple domains described in pediatric stroke populations including global performance, motor and cognitive function, language, quality of life, and behavior and adaptive functioning.

Human pluripotent stem cell-derived myogenic progenitors undergo maturation to quiescent satellite cells upon engraftment.

Human pluripotent stem cell (hPSC)-derived myogenic progenitor cell (MPC) transplantation is a promising therapeutic approach for a variety of degenerative muscle disorders. Here, using an MPC-specific fluorescent reporter system (PAX7::GFP), we demonstrate that hPSC-derived MPCs can contribute to the regeneration of myofibers in mice following local injury and in mice deficient of dystrophin (mdx). We also demonstrate that a subset of PAX7::GFP MPCs engraft within the basal lamina of regenerated myofibers, adopt a quiescent state, and contribute to regeneration upon reinjury and in mdx mouse models.

Postacute/Long COVID in Pediatrics: Development of a Multidisciplinary Rehabilitation Clinic and Preliminary Case Series.

The long-term sequelae after SARS-CoV-2 infections in children is unknown. Guidance is needed on helpful models of care for an emerging subset of pediatric patients with postacute/long COVID who continue to experience persistent symptoms after initial COVID-19 diagnosis. Here, we describe a pediatric multidisciplinary post-COVID-19 rehabilitation clinic model as well as a case series of the initial cohort of patients who presented to this clinic.

Adolescent and Young Adult ME/CFS After Confirmed or Probable COVID-19.

Fatigue is a common acute symptom following SARS-CoV-2 infection (COVID-19). The presence of persistent fatigue and impaired daily physical and cognitive function has led to speculation that like SARS-CoV-1 infection, COVID-19 will be followed by myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). We describe three adolescent and young adult patients who had confirmed or probable COVID-19 infections early on during the pandemic and were referred for evaluation to the Chronic Fatigue Clinic at the Johns Hopkins Children's Center.

Why the Hips Remain Stable When the Spine Strays: A Deeper Analysis of the Relationship Between Hip Displacement and Severe Scoliosis in Patients With Cerebral Palsy.

Background: Many patients with spastic quadriplegic cerebral palsy (CP) and severe scoliosis develop hip displacement, whereas others do not. We investigated demographic characteristics, risk factors for CP, and imaging findings associated with nondisplaced hips in patients with CP and severe scoliosis.

Methods: We retrospectively analyzed records of 229 patients with spastic quadriplegic CP and severe scoliosis who presented for treatment at our US academic tertiary care hospital between August 2005 and September 2015.

Synaptic processes and immune-related pathways implicated in Tourette syndrome.

Tourette syndrome (TS) is a neuropsychiatric disorder of complex genetic architecture involving multiple interacting genes. Here, we sought to elucidate the pathways that underlie the neurobiology of the disorder through genome-wide analysis. We analyzed genome-wide genotypic data of 3581 individuals with TS and 7682 ancestry-matched controls and investigated associations of TS with sets of genes that are expressed in particular cell types and operate in specific neuronal and glial functions.

Role of child neurologists and neurodevelopmentalists in the diagnosis of cerebral palsy: A survey study.

Objective: To contextualize the role of child neurologists and neurodevelopmentalists (CNs/NDDs) in cerebral palsy (CP) care, we review the changing landscape of CP diagnosis and survey stakeholder CNs/NDDs regarding their roles in CP care.

Methods: The optimal roles of the multiple specialties involved in CP care are currently unclear, particularly regarding CP diagnosis. We developed recommendations regarding the role of CNs/NDDs noting (1) increasing complexity of CP diagnosis given a growing number of genetic etiologies and treatable motor disorders that can be misdiagnosed as CP and (2) the views of a group of physician stakeholders (CNs/NDDs from the Child Neurology Society Cerebral Palsy Special Interest Group).

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

The gamma-1 isoform of casein kinase 1, the protein encoded by CSNK1G1, is involved in the growth and morphogenesis of cells. This protein is expressed ubiquitously among many tissue types, including the brain, where it regulates the phosphorylation of N-methyl-D-aspartate receptors and plays a role in synaptic transmission. One prior individual with a de novo variant in CSNK1G presenting with severe developmental delay and early-onset epilepsy has been reported.

Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome.

Autosomal dominant mutations in transcription factor 4 (TCF4) are associated with a rare syndromic form of Autism Spectrum Disorder (ASD) called Pitt-Hopkins Syndrome (PTHS). Here, we report the generation of a collection of induced pluripotent stem cells (iPSCs) from 5 patients diagnosed with PTHS and 5 familial controls. These patient-derived iPSCs contain a variety of mutations within the TCF4 gene, possess a normal karyotype and express all the appropriate pluripotent stem cell markers.

The Effect of Age and Competition Level on Subtle Motor Performance in Adolescents Medically Cleared Postconcussion: Preliminary Findings.

Objective: The aim of this study was to examine the effect of age and level of competition on subtle motor performance in adolescents who have recently been medically cleared postconcussion and never-injured controls.

Design: Thirty adolescents who were recently medically cleared postconcussion (12-18 yrs) and 30 never-concussed, typically developing controls were examined using the Revised Physical and Neurological Examination of Subtle Signs (PANESS) and the Immediate Post-Concussion Assessment and Cognitive Testing.

Results: Older age was associated with better Immediate Post-Concussion Assessment and Cognitive Testing scores in both groups, whereas only the control group showed improved motor performance on the PANESS with increasing age.

Competing stimulus assessments: A systematic review.

The current review summarizes the literature on competing stimulus assessments (CSAs). CSAs are pretreatment assessments designed to systematically identify stimuli that reduce problem behavior (PB), ostensibly through reinforcer competition or substitution. We report on the participant characteristics, outcomes, and predictive validity of published CSAs that included (a) no-stimulus control trial(s), (b) test trials during which each stimulus was available singly and noncontingently, and (c) measurement of PB and stimulus engagement or contact.

Sensitivity to Changing Environmental Conditions across Individuals with Subtype 2 Automatically Reinforced and Socially Reinforced Self-injury.

Automatically reinforced Subtype 2 self-injurious behavior (ASIB) has been characterized as showing insensitivity to competing reinforcement contingencies in the contexts of both functional analyses and in treatment using reinforcement alone (Hagopian, Rooker, &Yenokyan, 2018). One question is whether this insensitivity is specific to Subtype 2 ASIB as response class in these contexts or whether it is represents a generalized response tendency of the individual that is evident across other response classes. To examine this question, we compared responding on a single-operant task under changing reinforcement schedules for three individuals with Subtype 2 ASIB, relative to a comparison group of three individuals with socially reinforced SIB (which is characterized by sensitivity to changes in reinforcement contingencies).

Tummy time without the tears: The impact of parent positioning and play.

The American Academy of Pediatrics (AAP) recommends that infants spend supervised time in the prone (tummy) position to foster motor development and prevent cranial deformities. However, infants may not tolerate the position, and consequently, caregivers may avoid placing their infants in the prone position. The AAP recommends that caregivers provide toys or interaction during tummy time.

Advanced magnetic resonance spectroscopic neuroimaging: Experts' consensus recommendations.

Magnetic resonance spectroscopic imaging (MRSI) offers considerable promise for monitoring metabolic alterations associated with disease or injury; however, to date, these methods have not had a significant impact on clinical care, and their use remains largely confined to the research community and a limited number of clinical sites. The MRSI methods currently implemented on clinical MRI instruments have remained essentially unchanged for two decades, with only incremental improvements in sequence implementation. During this time, a number of technological developments have taken place that have already greatly benefited the quality of MRSI measurements within the research community and which promise to bring advanced MRSI studies to the point where the technique becomes a true imaging modality, while making the traditional review of individual spectra a secondary requirement.

Across-vendor standardization of semi-LASER for single-voxel MRS at 3T.

The semi-adiabatic localization by adiabatic selective refocusing (sLASER) sequence provides single-shot full intensity signal with clean localization and minimal chemical shift displacement error and was recommended by the international MRS Consensus Group as the preferred localization sequence at high- and ultra-high fields. Across-vendor standardization of the sLASER sequence at 3 tesla has been challenging due to the B requirements of the adiabatic inversion pulses and maximum B limitations on some platforms. The aims of this study were to design a short-echo sLASER sequence that can be executed within a B limit of 15 μT by taking advantage of gradient-modulated RF pulses, to implement it on three major platforms and to evaluate the between-vendor reproducibility of its perfomance with phantoms and in vivo.

Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.

Background: The mitochondrial aminoacyl-tRNA synthetase proteins (mt-aaRSs) are a group of nuclear-encoded enzymes that facilitate conjugation of each of the 20 amino acids to its cognate tRNA molecule. Mitochondrial diseases are a large, clinically heterogeneous group of disorders with diverse etiologies, ages of onset, and involved organ systems. Diseases related to mt-aaRS mutations are associated with specific syndromes that affect the central nervous system and produce highly characteristic MRI patterns, prototypically the DARS2, EARS, and AARS2 leukodystrophies, which are caused by mutations in mitochondrial aspartyl-tRNA synthetase, mitochondria glutamate tRNA synthetase, and mitochondrial alanyl-tRNA synthetase, respectively.