Computer-based training to teach observers to accurately score problem behavior using fast forwarding at 5x normal speed.

The current study evaluated whether a computer-based training program could improve observers' accuracy in scoring discrete instances of problem behavior at 5x normal speed using a multiple-baseline design across subjects. During pretraining and posttraining, observers attempted to score multiple examples of problem behavior at 5.0x without feedback.

Vascular dissection in women with Turner syndrome.

Background: The frequency of ascending aortic dissection in patients with Turner syndrome in the United States remains largely unknown with data surmised from published case reports or case series. Dissection of other vascular structures has only rarely been reported in this patient cohort. Recent European data identified aortic dissection to be a relatively rare event in a group of adult women with Turner syndrome.

Variations in Criteria for Eligibility Determination for Early Intervention Services with a Focus on Eligibility for Children with Neonatal Complications.

Objective: The purpose of this policy review is to describe data on eligibility determination practices for early intervention (EI) services across the United States as they particularly relate to eligibility determination for children seen in neonatal follow-up clinics.

Method: Policy information was gathered from posted information on state EI websites and confirmed through follow-up phone calls. Information collected included definition of delay, approved measures for developmental assessment, and inclusion criteria for medically at-risk status based on birth weight, prematurity, and/or neonatal abstinence syndrome/prenatal exposure.

Rubinstein-Taybi syndrome in diverse populations.

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss-of-function variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized in individuals of European descent but not in other populations.

Cognitive-Motor Interference Heightens the Prefrontal Cortical Activation and Deteriorates the Task Performance in Children With Hemiplegic Cerebral Palsy.

Objective: To compare the prefrontal cortex (PFC) activation and task performance during single- and dual-task conditions between typically developing (TD) children and children with hemiplegic cerebral palsy (HCP).

Design: A prospective, comparative design.

Setting: Research laboratory.

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Background: Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Metabolism (FOCM) and Glucose Homeostasis and Oxidative Stress (GHOS). Utilizing next-generation sequencing of a large patient cohort, we identify novel candidate genes in these two networks to provide insights into NTD mechanisms.

Preference and visual cognitive processing demands of alphabetic and QWERTY keyboards of individuals with and without brain injury.

Following a severe brain injury (BI), some literate individuals who require augmentative and alternative communication (AAC) strategies to support communication may benefit from the use of onscreen keyboards to generate text. A range of layouts are available to these individuals within specialized communication software. However, a paucity of information is available to describe user preferences, user perceptions, as well as the visual-cognitive processing demands of such layouts.

Evaluation of a Treatment Package to Increase Mean Length of Utterances for Children with Autism.

Skinner's (1957) classification of mand responses has spawned decades of research related to teaching individuals with developmental disabilities. However, few studies have evaluated how to teach individuals with autism to progress from simple to more complex mands for desired items and activities. The present study used a treatment package consisting of errorless teaching, differential reinforcement, and systematic decision rules to increase the number of words per mand utterance used by 6 children with autism.

Research participant understanding and engagement in an institutional, self-consent biobank model.

The number of institutional and governmental biobanks and the target enrollment sizes of modern biobanks are increasing, affording more opportunities for the public to participate in biobanking efforts. In parallel with these expansions are pressures to increase the efficiency of obtaining informed consent using shorter consent forms that cover a broader scope of research and increasingly include provisions for return of research or clinical genetic test results to participants. Given these changes, how well these participants understand genetics, their level of understanding of what they are consenting to, and their wishes to engage longitudinally and receive biobank results are not well understood.

Sestrin2 Phosphorylation by ULK1 Induces Autophagic Degradation of Mitochondria Damaged by Copper-Induced Oxidative Stress.

Selective autolysosomal degradation of damaged mitochondria, also called mitophagy, is an indispensable process for maintaining integrity and homeostasis of mitochondria. One well-established mechanism mediating selective removal of mitochondria under relatively mild mitochondria-depolarizing stress is PINK1-Parkin-mediated or ubiquitin-dependent mitophagy. However, additional mechanisms such as LC3-mediated or ubiquitin-independent mitophagy induction by heavy environmental stress exist and remain poorly understood.

Reprogramming of Ovarian Granulosa Cells by YAP1 Leads to Development of High-Grade Cancer with Mesenchymal Lineage and Serous Features.

Understanding the cell-of-origin of ovarian high grade serous cancer (HGSC) is the prerequisite for efficient prevention and early diagnosis of this most lethal gynecological cancer. Recently, a mesenchymal type of ovarian HGSC with the poorest prognosis among ovarian cancers was identified by both TCGA and AOCS studies. The cell-of-origin of this subtype of ovarian cancer is unknown.

Update on the developmental consequences of cannabis use during pregnancy and lactation.

There is a strong increase in prevalence trends for cannabis use during pregnancy and lactation as more states legalize use of this drug. Information on the teratogenic risk of cannabis is limited but some important themes can be gleaned. Studies have not found a unique phenotypic signature of prenatal exposure but an increased risk of congenital anomalies, particularly gastroschisis, has been reported.

The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.

Missense variants in TUBB3 have historically been associated with either congenital fibrosis of the extraocular muscles type 3 (CFEOM3) or malformations of cortical development (MCD). Until a recent report identified two amino acid substitutions in four patients that had clinical features of both disorders, pathogenic variants of TUBB3 were thought distinct to either respective disorder. Three recurrent de novo Gly71Arg TUBB3 substitutions and a single patient with a de novo Gly98Ser substitution blurred the MCD and CFEOM3 phenotypic distinctions.

Ocular measurements in fetal alcohol spectrum disorders.

Fetal alcohol spectrum disorders (FASD) describe a range of physical, behavioral, and neurologic deficits in individuals exposed to alcohol prenatally. Reduced palpebral fissure length is one of the cardinal facial features of FASD. However, other ocular measurements have not been studied extensively in FASD.

Exploration of a novel physical therapy protocol that uses a sensory substitution device to improve the standing postural balance of children with balance disorders.

Objective: To explore if an intensive balance training protocol that incorporated the BrainPort sensory substitution device improves the standing postural balance of children with balance disorders.

Methods: Eight children with balance disorders received 8-weeks of balance training while using the BrainPort device. Pre- and post-intervention changes in the Bruininks-Oseretsky Test of Motor Proficiency balance subtest (BOT-2) scores, standing duration on an unstable surface, and center of pressure (COP) sway were assessed.

Beyond the eye: Cortical differences in primary visual processing in children with cerebral palsy.

Despite the growing clinical recognition of visual impairments among people with cerebral palsy (CP), very few studies have evaluated the neurophysiology of the visual circuitry. To this end, the primary aim of this investigation was to use magnetoencephalography and beamforming methods to image the relative change in the alpha-beta and gamma occipital cortical oscillations induced by a spatial grating stimulus (e.g.

δ-Catenin engages the autophagy pathway to sculpt the developing dendritic arbor.

The development of the dendritic arbor in pyramidal neurons is critical for neural circuit function. Here, we uncovered a pathway in which δ-catenin, a component of the cadherin-catenin cell adhesion complex, promotes coordination of growth among individual dendrites and engages the autophagy mechanism to sculpt the developing dendritic arbor. Using a rat primary neuron model, time-lapse imaging, immunohistochemistry, and confocal microscopy, we found that apical and basolateral dendrites are coordinately sculpted during development.

Evaluation of an Omnibus Mand in the Treatment of Multiply Controlled Destructive Behavior.

Functional communication training is a commonly used and effective treatment for socially reinforced destructive behavior. However, when a functional analysis suggests that destructive behavior is multiply controlled (e.g.

MECOM rearrangement involving the MYC locus: Two additional patients with the rare translocation, t(3;8)(q26.2;q24), and molecular review.

A relatively small subset of myeloid neoplasms involve rearrangements of cytoband 3q26.2. Such rearrangements are often in response to therapy and carry a poor prognosis.

Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning.

Angelman syndrome (AS) is caused by several genetic mechanisms that impair the expression of maternally-inherited UBE3A through deletions, paternal uniparental disomy (UPD), UBE3A pathogenic variants, or imprinting defects. Current methods of differentiating the etiology require molecular testing, which is sometimes difficult to obtain. Recently, computer-based facial analysis systems have been used to assist in identifying genetic conditions based on facial phenotypes.

Maternal cariprazine exposure inhibits embryonic and postnatal brain cholesterol biosynthesis.

Cariprazine (CAR) is a strong inhibitor of the Dhcr7 enzyme, the last enzyme in the cholesterol biosynthesis pathway. We assessed the effects of CAR on maternally exposed Dhcr7 and wild-type mouse offspring, and tested the biochemical effects of CAR in human serum samples. Dhcr7 and wild-type time-pregnant mice were exposed to vehicle or 0.

Gamma somatosensory cortical oscillations are attenuated during the stance phase of human walking.

It is well appreciated that processing of peripheral feedback by the somatosensory cortices plays a prominent role in the control of human motor actions like walking. However, very few studies have actually quantified the somatosensory cortical activity during walking. In this investigation, we used electroencephalography (EEG) and beamforming source reconstruction methods to quantify the frequency specific neural oscillations that are induced by an electrical stimulation that is applied to the right tibial nerve under the following experimental conditions: 1) sitting, 2) standing in place, and 3) treadmill walking.

High-risk cytogenetics in multiple myeloma: Further scrutiny of deletions within the IGH gene region enhances risk stratification.

Multiple myeloma is a clonal malignancy of plasma cells in the bone marrow. Risk stratification is partly based on cytogenetic findings that include abnormalities of the IGH locus as determined by fluorescence in situ hybridization (FISH), such as rearrangements that result in either standard-risk or high-risk gene fusions. IGH deletions have been evaluated as a group in multiple myeloma patients with respect to cumulative outcomes but have provided limited guidance.

Pediatric Prevention: Oral Health Care.

Children who have a dental home are more likely to receive preventative care, require fewer dental treatments, and are less likely to have dental disease. Many children demonstrate behavior management concerns that may impede families from establishing a dental home for their children. Conceptually, behavior concerns develop through a process of conditioning.