Seizures in trisomy 18: Prevalence, description, and treatment.

Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management.

Dysregulated cholesterol metabolism, aberrant excitability and altered cell cycle of astrocytes in fragile X syndrome.

Fragile X syndrome (FXS), the most prevalent heritable form of intellectual disability, is caused by the transcriptional silencing of the FMR1 gene. While neuronal contribution to FXS has been extensively studied in both animal and human-based models of FXS, the roles of astrocytes, a type of glial cells in the brain, are largely unknown. Here, we generated a human-based FXS model via differentiation of astrocytes from human-induced pluripotent stem cells (hiPSCs) and human embryonic stem cells (hESCs) and characterized their development, function, and proteomic profiles.

Evaluation of a Telehealth Training Package to Remotely Teach Caregivers to Conduct Discrete-Trial Instruction.

The present study evaluated the effectiveness of using telehealth technologies to remotely train caregivers of children with ASD to conduct discrete-trial instruction (DTI). We used a multiple-baseline-across-participants design to evaluate caregiver correct implementation of the DTI procedures and child emission of independent correct tacts as dependent measures. We observed robust and immediate improvements for all three caregivers and two of three children.

Hand-Arm Bimanual Intensive Training in Virtual Reality: A Feasibility Study.

Objective: The aim of the study was to evaluate the feasibility of virtual reality (VR) software built using the core concepts of hand-arm bimanual intensive training (HABIT) for improving upper extremity motor function in children with cerebral palsy (CP).

Methods: Eight children with CP participated in a 10-day, 40-hour HABIT program. Half of the time custom VR software, HABIT-VR was used.

Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.

Congenital renal cystic dysplasia is a rare disease that occurs in approximately 1 in 4000 children and is often discovered in the antenatal period by ultrasound. It is commonly associated with oligohydramnios in utero and/or renal insufficiency or failure in the postnatal period. Aquaporins are membrane proteins that serve as transport channels in the transfer of water or small solutes across cell membranes.

Dose-Response Effects of 7-Dehydrocholesterol Reductase Inhibitors on Sterol Profiles and Vesicular Stomatitis Virus Replication.

Cholesterol is ubiquitous in cells; it plays a critical role in membrane structure and transport as well as in intracellular trafficking processes. There are suggestions that cholesterol metabolism is linked to innate immunity with inhibitors of DHCR7, the last enzyme in the cholesterol pathway, suggested to have potential as viral therapeutics nearly a decade ago. In fact, there are a number of highly prescribed pharmaceuticals that are off-target inhibitors of DHCR7, causing increased cellular levels of 7-dehydrodesmosterol (7-DHD) and 7-dehydrocholesterol (7-DHC).

Increasing young children's honest reports and decreasing their transgressions.

Young children break rules (i.e., transgress) and then lie about those transgressions.

Re: "Next generation sequencing in neonatology: what does it mean for the next generation?".

Available evidence does not support limiting the use of rapid or ultra-rapid exome or genome sequencing in critically ill neonates to cases of predicted high diagnostic yield. Such testing is best positioned to improve neonatal care when test utilization is conceptualized within the total care of the family with a goal of rapid resolution of the diagnostic odyssey.

Effects of Psychotropic Medication on Somatic Sterol Biosynthesis of Adult Mice.

Polypharmacy is commonly used to treat psychiatric disorders. These combinations often include drugs with sterol biosynthesis inhibiting side effects, including the antipsychotic aripiprazole (ARI), and antidepressant trazodone (TRZ). As the effects of psychotropic medications are poorly understood across the various tissue types to date, we investigated the effects of ARI, TRZ, and ARI + TRZ polypharmacy on the post-lanosterol biosynthesis in three cell lines (Neuro2a, HepG2, and human dermal fibroblasts) and seven peripheral tissues of an adult mouse model.

The Effect of START-Play Intervention on Reaching-Related Exploratory Behaviors in Children with Neuromotor Delays: A Secondary Analysis of a Randomized Controlled Trial.

Aims: Children with neuromotor delays are at risk for reaching and object exploration impairments, which may negatively affect their cognitive development and daily activity performance. This study evaluated the effectiveness of the Sitting Together And Reaching To Play (START-Play) intervention on reaching-related exploratory behaviors in children with neuromotor delays.

Methods: In this randomized controlled clinical trial, 112 children ( = 10.

Metoprolol Inhibits Developmental Brain Sterol Biosynthesis in Mice.

De novo sterol synthesis is a critical homeostatic mechanism in the brain that begins during early embryonic development and continues throughout life. Multiple medications have sterol-biosynthesis-inhibiting side effects, with potentially detrimental effects on brain health. Using LC-MS/MS, we investigated the effects of six commonly used beta-blockers on brain sterol biosynthesis in vitro using cell lines.

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in cause a Multisystem Fibroproliferative Response.

Myhre syndrome, caused by pathogenic variants in , is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abnormalities (valve stenosis, coarctation, hypoplasia, or stenosis of aorta), effusions of potential spaces (pericardium, pleura, peritoneum), restricted movement of the joints (including thorax), and hearing loss. Lung and airway disease has been reported, but not always well-defined, to include interstitial lung disease, large airway obstruction, and pulmonary arterial hypertension. Excessive fibroproliferation of tissues especially following trauma or surgical instrumentation has been recognized, although these may also present spontaneously.

A ValMet polymorphism is associated with weaker somatosensory cortical activity in individuals with cerebral palsy.

Background: The brain-derived neurotrophic factor (BDNF) protein plays a prominent role in the capacity for neuroplastic change. However, a single nucleotide polymorphism at codon 66 of the gene results in significant reductions in neuroplastic change. Potentially, this polymorphism also contributes to the weaker somatosensory cortical activity that has been extensively reported in the neuroimaging literature on cerebral palsy (CP).

The beginning of a friendship: Teaching individuals with autism to identify shared interests.

Individuals with conversation skill deficits often have difficulties discriminating cues of interest and uninterest from their conversation partner(s). We used behavioral skills training (BST) to teach 3 individuals with autism spectrum disorder to converse about the conversation partner's topics of interest, initiate strategic preferred topics to identify shared interests after indices of uninterest, and end the conversation. We assessed generality of each skill across conversation partners and ratings of social acceptability.

Knock-in mouse models for studying somatostatin and cholecystokinin expressing cells.

Background: Somatostatin (SST) and cholecystokinin (CCK) are peptide hormones that regulate the endocrine system, cell proliferation and neurotransmission.

New Method: We utilized the novel Easi-CRISPR system to generate two knock-in mouse strains with Cre recombinase in SST- and CCK-expressing cells and validated their utility in the developing and adult brain tissues.

Results: The full nomenclature for the newly generated strains are C57BL/6-Sst and C57BL/6-Cck.

Neural responding during uncertain threat anticipation in pediatric anxiety.

Excessive fear responses to uncertain threat are a key feature of anxiety disorders (ADs), though most mechanistic work considers adults. As ADs onset in childhood and confer risk for later psychopathology, we sought to identify conditions of uncertain threat that distinguish 8-17-year-old youth with AD (n = 19) from those without AD (n = 33), and assess test-retest reliability of such responses in a companion sample of healthy adults across three sites (n = 19). In an adapted uncertainty of threat paradigm, visual cues parametrically signaled threat of aversive stimuli (fear faces) in 25 % increments (0 %, 25 %, 50 %, 100 %), while participants underwent functional magnetic resonance imaging (fMRI).

Attachment-Based Parenting Interventions and Evidence of Changes in Toddler Attachment Patterns: An Overview.

There is strong evidence to show links between attachment security in young children and a range of positive outcomes in social, emotional, and psychological domains. The aims of this review were to provide a narrative summary of (1) the attachment-based interventions currently available for caregivers of toddlers aged 12-24 months and for which research about the impact of the program on child attachment patterns has been reported, and (2) the empirical effectiveness of these interventions at improving attachment security. A number of interventions were shown to be associated with shifts to secure and/or organized attachment, with Child-Parent Psychotherapy and Attachment and Biobehavioral Catch-Up emerging as the interventions with the strongest evidence bases.

"Learn the Signs. Act Early.": Updates and Implications for Physical Therapists.

Purpose: In early 2022, the Centers for Disease Control and Prevention (CDC) updated their developmental surveillance milestone checklists. The purpose of this article is to clarify and interpret the updates from a physical therapist perspective and to discuss implications of the new milestones for physical therapists.

Summary Of Key Points: The CDC's updated checklists provide clear, consistent, easy to use, and evidence-based developmental milestones to prompt discussion with families.

Evaluating the Use of Video Modeling With Voiceover Instructions to Train Therapists to Deliver Caregiver Training Through Telehealth.

Caregiver training is an important component of behavioral intervention; however, many barriers exist for in-person training. Alternatively, behavioral therapists may use telehealth as a service delivery method. To effectively train caregivers through telehealth, therapists should receive explicit training, but there has been limited research on effective methods for teaching this skill.

Individual and simultaneous treatment with antipsychotic aripiprazole and antidepressant trazodone inhibit sterol biosynthesis in the adult brain.

Polypharmacy, or the simultaneous use of multiple drugs to treat a single patient, is a common practice in psychiatry. Unfortunately, data on the health effects of commonly used combinations of medications are very limited. In this study, we therefore investigated the effects and interactions between two commonly prescribed psychotropic medications with sterol inhibiting side effects, trazodone (TRZ), an antidepressant, and aripiprazole (ARI), an antipsychotic.

On the validity of interpreting functional analyses of inappropriate mealtime behavior using structured criteria.

Visual inspection is the traditional method behavior analysts use to interpret functional-analysis results. Limitations of visual inspection include lack of standardized rules, subjectivity, and inconsistent interrater reliability (Fisch, 1998). To address these limitations, researchers have developed, evaluated, and refined structured criteria to aid interpretation of functional analyses of destructive behavior (Hagopian et al.

Tailoring Our Approach in Response to the SARS-CoV-2 Pandemic and Transcending Science Outreach Modalities for Native American Students in a Cancer Research Education Program.

In response to the SARS-CoV-2 pandemic, a cancer research education program at the University of Nebraska Medical Center designed for Native American middle school, high school and undergraduate students adapted activities to be delivered online. There are considerable challenges to adapting in-person science programming to online delivery that can impact overall effectiveness. These challenges are further exacerbated when the cognate student population also faces significant disparities in health, wealth, and educational outcomes.

Ferroptosis: A Promising Therapeutic Target for Neonatal Hypoxic-Ischemic Brain Injury.

Ferroptosis is a type of programmed cell death caused by phospholipid peroxidation that has been implicated as a mechanism in several diseases resulting from ischemic-reperfusion injury. Most recently, ferroptosis has been identified as a possible key injury mechanism in neonatal hypoxic-ischemic brain injury (HIBI). This review summarizes the current literature regarding the different ferroptotic pathways, how they may be activated after neonatal HIBI, and which current or investigative interventions may attenuate ferroptotic cell death associated with neonatal HIBI.