Inclusivity is child's play: pilot study on usability, acceptability and user experience of a sensory-motor PC game for children with cerebral palsy (GiocAbile).

Background: The use of video games in rehabilitation settings is gaining increasing popularity. However, the lack of commercial video games suitable for children with disabilities and the disappointing user experience of serious games limit their applicability. The aim of this study was to assess the usability, acceptability and user experience of GiocAbile, an active video game for children with cerebral palsy (CP).

Newborns' perception of approach and withdrawal from biological movement: A closeness story.

Since birth, infants discriminate the biological motion (BM) revealed by point-light displays (PLDs). To date, no studies have explored whether newborns differentiate BM that approaches rather than withdraws from them. Yet, approach and withdrawal are two fundamental motivations in the socio-emotional world, key to developing empathy and prosocial behavior.

How pain affect real life of children and adults with achondroplasia: A systematic review.

The clinical features of achondroplasia can cause acute self-limited pain that can evolve into chronic pain. Pain causes a low quality of life, in terms of physical, emotional, social, and school functioning in both adult and children with achondroplasia. We conducted a systematic review according to the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement to describe prevalence, assessment tools, causes and management strategies of pain in this rare disease.

To be born twin: effects on long-term neurodevelopment of very preterm infants-a cohort study.

Objective: To examine the effect of twin birth on long-term neurodevelopmental outcomes in a cohort of Italian preterm infants with very low birth weight.

Study Design: We performed a retrospective cohort study on children born in a tertiary care centre. We included children born between 1 January 2007 and 31 December 2013 with a gestational age (GA) of ≤32 weeks and birth weight of <1,500 g.

A 64k pixel CMOS-DEPFET module for the soft X-rays DSSC imager operating at MHz-frame rates.

The 64k pixel DEPFET module is the key sensitive component of the DEPFET Sensor with Signal Compression (DSSC), a large area 2D hybrid detector for capturing and measuring soft X-rays at the European XFEL. The final 1-megapixel camera has to detect photons with energies between [Formula: see text] and [Formula: see text], and must provide a peak frame rate of [Formula: see text] to cope with the unique bunch structure of the European XFEL. This work summarizes the functionalities and properties of the first modules assembled with full-format CMOS-DEPFET arrays, featuring [Formula: see text] hexagonally-shaped pixels with a side length of 136 μm.

In-hospital growth and long-term neurodevelopmental outcomes of very low birth weight infants.

Background And Objectives: Very low birth weight infants (VLBW) are at risk for adverse growth and neurodevelopmental outcomes. We aimed to evaluate the association between growth during Neonatal Intensive Care Unit (NICU) stay and long-term neurodevelopmental outcomes in a cohort of preterm VLBW newborns.

Methods: We conducted a longitudinal observational study in the Follow-up Service of our Clinic from January 2014 to April 2017.

Neocortical and medial temporal seizures have distinct impacts on brain responsiveness.

Focal epileptic seizures are characterized by abnormal neuronal discharges that can spread to other cortical areas and interfere with brain activity, thereby altering the patient's experience and behavior. The origin of these pathological neuronal discharges encompasses various mechanisms that converge toward similar clinical manifestations. Recent studies have suggested that medial temporal lobe (MTL) and neocortical (NC) seizures are often underpinned by two characteristic onset patterns, which, respectively, affect and spare synaptic transmission in cortical slices.

Photon-shot-noise-limited transient absorption soft X-ray spectroscopy at the European XFEL.

Femtosecond transient soft X-ray absorption spectroscopy (XAS) is a very promising technique that can be employed at X-ray free-electron lasers (FELs) to investigate out-of-equilibrium dynamics for material and energy research. Here, a dedicated setup for soft X-rays available at the Spectroscopy and Coherent Scattering (SCS) instrument at the European X-ray Free-Electron Laser (European XFEL) is presented. It consists of a beam-splitting off-axis zone plate (BOZ) used in transmission to create three copies of the incoming beam, which are used to measure the transmitted intensity through the excited and unexcited sample, as well as to monitor the incoming intensity.

Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies?

Cornelia de Lange syndrome (CdLS) is a rare multisystem congenital neurodevelopmental disorder (NDD) characterized by distinctive facial anomalies, short stature, developmental delay, hirsutism, gastrointestinal abnormalities and upper limb reduction defects. CdLS syndrome is associated with causative variants in genes encoding for the cohesin complex, a cellular machinery involved in chromatid pairing, DNA repair and gene-expression regulation. In this report, we describe a familial case of a syndromic presentation in a 4-year-old patient (P1) and in his mother (P2).

Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases.

Coffin-Siris Syndrome (CSS) is a rare multi-system dominant condition with a variable clinical presentation mainly characterized by hypoplasia/aplasia of the nail and/or distal phalanx of the fifth digit, coarse facies, hirsutism/hypertrichosis, developmental delay and intellectual disability of variable degree and growth impairment. Congenital anomalies may include cardiac, genitourinary and central nervous system malformations whereas congenital diaphragmatic hernia (CDH) is rarely reported. The genes usually involved in CSS pathogenesis are ARID1B (most frequently), SMARCA4, SMARCB1, ARID1A, SMARCE1, DPF2, and PHF6.

Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment.

Protein arginine methyltransferase 7 (PRMT7) pathogenetic variants have been associated with the human disorder of Short Stature, Brachydactyly, Intellectual Developmental Disability and Seizures syndrome (SBIDDS). Only 15 cases have been described in the literature. Here we report two female dizygotic twins with novel compound heterozygous deleterious variants of PRMT7 and describe the associated endocrine manifestations and short-term response to recombinant growth hormone (rGH) treatment.

Megahertz-rate ultrafast X-ray scattering and holographic imaging at the European XFEL.

The advent of X-ray free-electron lasers (XFELs) has revolutionized fundamental science, from atomic to condensed matter physics, from chemistry to biology, giving researchers access to X-rays with unprecedented brightness, coherence and pulse duration. All XFEL facilities built until recently provided X-ray pulses at a relatively low repetition rate, with limited data statistics. Here, results from the first megahertz-repetition-rate X-ray scattering experiments at the Spectroscopy and Coherent Scattering (SCS) instrument of the European XFEL are presented.

Development of a new scoring method in the neurofunctional assessment of preterm infants.

Infants born preterm are at high risk of presenting neurodevelopmental delay. The Neurofunctional Assessment (NFA) describes infants' neurodevelopment through the evaluation of six different domains. This study aimed to evaluate how, in a cohort of preterm infants, each NFA domain assessed at 3 months of corrected age (CA) was associated with neurodevelopment at 2 years of CA using the Griffiths Mental Developmental Scales Extended Revised (GMDS-ER).

A narrative review of the functional components of human breast milk and their potential to modulate the gut microbiome, the consideration of maternal and child characteristics, and confounders of breastfeeding, and their impact on risk of obesity later in life.

Nutritional exposure and, therefore, the metabolic environment during early human development can affect health later in life. This can go beyond the nutrients consumed; there is evidence that the development and modulation of the gut microbiome during early life can affect human growth, development, and health, and the gut microbiome is associated with the risk of obesity later in life. The primary aim of this review was to evaluate existing evidence, to identify the components of human breast milk, which may modulate the gut microbiome, and to assess the impact of the gut microbiome on the risk of becoming obese later in life.

Impact of the COVID-19 Pandemic on Child and Adolescent Psychiatric Emergencies.

Objective: By forcing closure of schools, curtailing outpatient services, and imposing strict social distancing, the COVID-19 pandemic has abruptly affected the daily life of millions worldwide, with still unclear consequences for mental health. This study aimed to evaluate if and how child and adolescent psychiatric visits to hospital emergency departments (EDs) changed during the pandemic lockdown, which started in Italy on February 24, 2020.

Methods: We examined all ED visits by patients under 18 years of age in the 7 weeks prior to February 24, 2020, and in the subsequent 8 weeks of COVID-19 lockdown at two urban university hospitals, in Turin and Rome, Italy.

Mind-mindedness and parenting stress in mothers of preterm and full-term infants: The moderating role of perceived social support.

The goal of this study was to examine the effects of preterm birth and maternal childbirth-related posttraumatic stress and parenting stress on maternal mind-mindedness (MM). The study also investigated the effects of perceived social support on parenting stress and MM. Sixty-five preterm (N = 32) and full-term (N = 33) mother-infant dyads were observed at 6 months.

Early detection of general movements trajectories in very low birth weight infants.

The aim of the study was to investigate General Movements'(GMs) neonatal trajectories and their association with neurodevelopment at three months corrected age (CA) in preterm infants. We conducted an observational, longitudinal study in 216 very low birth weight infants. GMs were recorded at 31 ± 1, 35 ± 1, 40 ± 1 weeks of postmenstrual age and at three months of corrected age (CA).

Neurodevelopmental Outcome and Adaptive Behavior in Preterm Multiples and Singletons at 1 and 2 Years of Corrected Age.

Background: Recent literature has investigated the role of multiple birth on neurodevelopmental outcomes of premature infants, especially extremely preterm ones. Multiple gestations are often associated to increased neurodevelopmental disability. Actually, research findings are controversial.

(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.

Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder caused by defects at the 11p15.5 imprinted region. Many cases of female monozygotic (MZ) twins discordant for BWS have been reported, but no definitive conclusions have been drawn regarding the link between epigenetic defects, twinning process, and gender.

Seven Years Cognitive Functioning and Early Assessment in Extremely Low Birth Weight Children.

Infants born preterm are at high risk for the onset of cognitive dysfunctions at school age. The aim of this study was to investigate the association between early neurodevelopmental assessment and the risk of adverse cognitive outcome in extremely low birth weight children. We enrolled all newborns (January 2002 - April 2007) consecutively admitted to our Institution, with a birthweight < 1000 g.

Moebius syndrome: clinical features, diagnosis, management and early intervention.

Background: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i.

Can we prevent hip dislocation in children with cerebral palsy? Effects of postural management.

Background: Hip dislocation is common in children with cerebral palsy (CP). At birth they do not have musculoskeletal deformities but they develop over time due to the combined effects of the movement disorder and impaired gross motor function. Early detection and treatment of a hip at risk is needed to modify the natural of hip development in CP.