Behavioral characteristics of toddlers later identified with an autism diagnosis, ADHD symptoms, or combined autism and ADHD symptoms.

Background: Autism commonly co-occurs with attention-deficit/hyperactivity disorder (ADHD), but less is known regarding how ADHD symptoms impact the early presentation of autism. This study examined early behavioral characteristics of a community sample of toddlers later identified with autism diagnosis, ADHD symptoms, combined autism and ADHD symptoms, or neither condition.

Methods: Participants were 506 toddlers who were part of a longitudinal study of children's behavioral development.

Engineering quantum states from a spatially structured quantum eraser.

Quantum interference is a central resource in many quantum-enhanced tasks, from computation to communication. While usually occurring between identical photons, it can also be enabled by performing projective measurements that render the photons indistinguishable, a process known as quantum erasing. Structured light forms another hallmark of photonics, achieved by manipulating the degrees of freedom of light, and enables a multitude of applications in both classical and quantum regimes.

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.

Objective: Metachromatic leukodystrophy (MLD) is a rare neurodegenerative disorder. Emerging therapies are most effective in the presymptomatic phase, and thus defining this window is critical. We hypothesize that early development delay may precede developmental plateau.

Cognitive Disengagement Syndrome in Young Autistic Children, Children with ADHD, and Autistic Children with ADHD.

Objective: Cognitive Disengagement Syndrome (CDS; previously called Sluggish Cognitive Tempo) refers to a constellation of cognitive and motor behaviors characterized by a predisposition toward mind wandering (cognitive subdomain) and slowed motor behavior (hypoactive). While there are a number of studies linking CDS traits to greater global impairment in children with attention-deficit/hyperactivity disorder (ADHD) and autistic children, there are few studies examining the prevalence and impact of CDS traits in autistic children with co-occurring ADHD (Autistic+ADHD). The current study explored CDS traits in autistic children with and without co-occurring ADHD, children with ADHD, and neurotypical children.

Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome.

Background And Objectives: Aicardi Goutières syndrome (AGS) is type I interferonopathy characterized by severe neurologic impairment. Although many children with AGS demonstrate motor and expressive language deficits, the magnitude of receptive language impairment is uncharacterized. We sought to characterize cognitive function in AGS-affected children using assessment tools with reduced dependence on motor abilities and compare cognitive testing outcomes with overall severity and parental assessment of adaptive behavior.

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.

Growing interest in therapeutic development for rare diseases necessitate a systematic approach to the collection and curation of natural history data that can be applied consistently across this group of heterogenous rare diseases. In this study, we discuss the challenges facing natural history studies for leukodystrophies and detail a novel standardized approach to creating a longitudinal natural history study using existing medical records. Prospective studies are uniquely challenging for rare diseases.

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.

Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aicardi-Goutières syndrome severity score favors severely impacted individuals, there is an unmet need to define tools measuring function across the Aicardi-Goutières syndrome spectrum as potential outcome assessments for future clinical trials. Gross Motor Function Measure-88 (GMFM-88) and AGS Severity Scale were administered in individuals affected by Aicardi-Goutières syndrome (n = 71).

Relationship between quantitative digital behavioral features and clinical profiles in young autistic children.

Early behavioral markers for autism include differences in social attention and orienting in response to one's name when called, and differences in body movements and motor abilities. More efficient, scalable, objective, and reliable measures of these behaviors could improve early screening for autism. This study evaluated whether objective and quantitative measures of autism-related behaviors elicited from an app (SenseToKnow) administered on a smartphone or tablet and measured via computer vision analysis (CVA) are correlated with standardized caregiver-report and clinician administered measures of autism-related behaviors and cognitive, language, and motor abilities.

Blink rate and facial orientation reveal distinctive patterns of attentional engagement in autistic toddlers: a digital phenotyping approach.

Differences in social attention are well-documented in autistic individuals, representing one of the earliest signs of autism. Spontaneous blink rate has been used to index attentional engagement, with lower blink rates reflecting increased engagement. We evaluated novel methods using computer vision analysis (CVA) for automatically quantifying patterns of attentional engagement in young autistic children, based on facial orientation and blink rate, which were captured via mobile devices.

Investigation of SAMD1 ablation in mice.

SAM domain-containing protein 1 (SAMD1) has been implicated in atherosclerosis, as well as in chromatin and transcriptional regulation, suggesting a versatile and complex biological function. However, its role at an organismal level is currently unknown. Here, we generated SAMD1 and SAMD1 mice to explore the role of SAMD1 during mouse embryogenesis.

Considerations on staffing levels for a modern assisted reproductive laboratory.

The duties recently performed in the embryology laboratory have deeply increased compared to those realized a couple of decades ago. Currently, procedures include conventional in vitro fertilization (IVF) and ICSI techniques, or processing of surgically retrieved sperm, embryo culture and time-lapse monitoring, blastocyst culture, as well as trophectoderm biopsy for preimplantation genetic testing and cryopreservation. These techniques require not only time, but also high knowledge level and acutely concentration by the embryologist team.

Absolute frequency metrology of buffer-gas-cooled molecular spectra at 1 kHz accuracy level.

By reducing both the internal and translational temperature of any species down to a few kelvins, the buffer-gas-cooling (BGC) technique has the potential to dramatically improve the quality of ro-vibrational molecular spectra, thus offering unique opportunities for transition frequency measurements with unprecedented accuracy. However, the difficulty in integrating metrological-grade spectroscopic tools into bulky cryogenic equipment has hitherto prevented from approaching the kHz level even in the best cases. Here, we overcome this drawback by an original opto-mechanical scheme which, effectively coupling a Lamb-dip saturated-absorption cavity ring-down spectrometer to a BGC source, allows us to determine the absolute frequency of the acetylene (ν + ν) R(1)e transition at 6561.

Analysis of Primary Cilium Expression and Hedgehog Pathway Activation in Mesothelioma Throws Back Its Complex Biology.

The primary cilium (PC) is a sensory organelle present on the cell surface, modulating the activity of many pathways. Dysfunctions in the PC lead to different pathologic conditions including cancer. Hedgehog signaling (Hh) is regulated by PC and the loss of its control has been observed in many cancers, including mesothelioma.

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome.

Aicardi Goutières Syndrome (AGS) is an autoinflammatory disorder resulting in sustained interferon activation through defects in nucleic acid modification and sensing pathways. Thus, mRNA-based vaccination used against SARS-CoV-2, raise disease-specific safety concerns. To assess interferon signaling, we tested mRNA SARS-CoV-2 vaccines in AGS whole blood samples.

Adaptive Behavior in Young Autistic Children: Associations with Irritability and ADHD Symptoms.

Attention-deficit/hyperactivity disorder (ADHD) symptoms affect 40-60% of autistic children and have been linked to differences in adaptive behavior. It is unclear whether adaptive behavior in autistic youth is directly impacted by co-occurring ADHD symptoms or by another associated feature of both autism and ADHD, such as increased irritability. The current study examined relationships between irritability, ADHD symptoms, and adaptive behavior in 3- to 7-year-old autistic children.

Review of the impact of COVID-19 on male reproduction, and its implications on assisted reproductive technology services.

The announcement in 2019 of a new coronavirus disease that quickly became a major pandemic, is an exceptional challenge to healthcare systems never seen before. Such a public health emergency can largely influence various aspects of people's health as well as reproductive outcome. IVF specialists should be vigilant, monitoring the situation whilst contributing by sharing novel evidence to counsel patients, both pregnant women and would-be mothers.

Complexity analysis of head movements in autistic toddlers.

Background: Early differences in sensorimotor functioning have been documented in young autistic children and infants who are later diagnosed with autism. Previous research has demonstrated that autistic toddlers exhibit more frequent head movement when viewing dynamic audiovisual stimuli, compared to neurotypical toddlers. To further explore this behavioral characteristic, in this study, computer vision (CV) analysis was used to measure several aspects of head movement dynamics of autistic and neurotypical toddlers while they watched a set of brief movies with social and nonsocial content presented on a tablet.

Hematologic abnormalities in Aicardi Goutières Syndrome.

Background: Because of the broad clinical spectrum, heritable autoinflammatory diseases present a management and therapeutic challenge. The most common genetic interferonopathy, Aicardi Goutières Syndrome (AGS), is associated with early onset neurologic disability and systemic inflammation. The chronic inflammation of AGS is the result of dysregulation of interferon (IFN) expression by one of nine genes within converging pathways.

The Network That Unites a Qualitative Study on Clinical Psychological Intervention for Women with a History of Breast Cancer and Chronic Pain.

The aim of this qualitative research is to deepen the knowledge in the field of psycho-oncology and the consequences of chronic and persistent pain by listening to patients' experiences, their emotions and difficulties in facing this hard condition, and assessing their perception of the role of the psychologist in pain management. In this qualitative study, a semistructured interview was used, designed from three research questions: chronic pain and quality of life; chronic pain and psychological well-being; and the role and perception of the psychologist in pain management. The sample consists of 29 women who suffered or have recovered from breast carcinoma, and who currently report having chronic pain due either to the presence of the cancer or as a result of surgery or treatment.

A Drug Screening Revealed Novel Potential Agents against Malignant Pleural Mesothelioma.

The lack of effective therapies remains one of the main challenges for malignant pleural mesothelioma (MPM). In this perspective, drug repositioning could accelerate the identification of novel treatments. We screened 1170 FDA-approved drugs on a SV40-immortalized mesothelial (MeT-5A) and five MPM (Mero-14, Mero-25, IST-Mes2, NCI-H28 and MSTO-211H) cell lines.

Correction to 'Tumor-selective, antigen-independent delivery of a pH sensitive peptide-topoisomerase inhibitor conjugate suppresses tumor growth without systemic toxicity'.

[This corrects the article DOI: 10.1093/narcan/zcab021.].