Spectrum Disorders
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2021 ◽  
Vol 0 (0) ◽  
Cecilia Cavalli ◽  
Claudia Maggi ◽  
Sebastiana Gambarini ◽  
Anna Fichera ◽  
Amerigo Santoro ◽  

Abstract Objectives We aimed to assess the performance of ultrasound (US) and magnetic resonance imaging (MRI) signs for antenatal detection of placenta accreta spectrum (PAS) disorders in women with placenta previa (placental edge ≤2 cm from the internal uterine orifice, ≥260/7 weeks’ gestation) with and without a history of previous Caesarean section. Methods Single center prospective observational study. US suspicion of PAS was raised in the presence of obliteration of the hypoechoic space between uterus and placenta, interruption of the hyperechoic uterine-bladder interface and/or turbulent placental lacunae on color Doppler. All MRI studies were blindly evaluated by a single operator. PAS was defined as clinically significant when histopathological diagnosis was associated with at least one of: intrauterine balloon placement, compressive uterine sutures, peripartum hysterectomy, uterine or hypogastric artery ligature, uterine artery embolization. Results A total of 39 women were included: 7/39 had clinically significant PAS. There were 6/18 cases of PAS with anterior placenta: hypoechoic space interruption and placental lacunae were the most sensitive sonographic signs (83%), while abnormal hyperechoic interface was the most specific (83%). On MRI, focal myometrial interruption and T2 intraplacental dark bands showed the best sensitivity (83%), bladder tenting had the best specificity (100%). 1/21 women with posterior placenta had PAS. There was substantial agreement between US and MRI in patients with anterior placenta (κ=0.78). Conclusions US and MRI agreement in antenatal diagnosis of clinically significant PAS was maximal in high-risk women. Placental lacunae on ultrasound scan and T2 intraplacental hypointense bands on MRI should trigger the suspicion of PAS.

2021 ◽  
Jack Jansma ◽  
Rogier van Essen ◽  
Bartholomeus C.M. Haarman ◽  
Anastasia Chrysovalantou Chatziioannou ◽  
Jenny Borkent ◽  

The brain-gut axis is increasingly recognized as an important contributing factor in the onset and progression of severe mental illnesses such as schizophrenia spectrum disorders and bipolar disorder. This study investigates associations between levels of faecal metabolites identified using 1H-NMR, clinical parameters, and dietary components of forty-two individuals diagnosed in a transdiagnostic approach to have severe mental illness. Faecal levels of the amino acids; alanine, leucine, and valine showed a significant positive correlation with psychiatric symptom severity as well as with dairy intake. Overall, this study proposes a diet-induced link between the brain-gut axis and the severity of psychiatric symptoms, which could be valuable in the design of novel dietary or therapeutic interventions to improve psychiatric symptoms.

10.2196/29687 ◽  
2021 ◽  
Vol 5 (12) ◽  
pp. e29687
Christie Lynn McGee Petrenko ◽  
Carson Christine Kautz-Turnbull ◽  
Alicia Rose Roth ◽  
Jennifer Elizabeth Parr ◽  
Cristiano Tapparello ◽  

Background Fetal alcohol spectrum disorders (FASD) are prevalent neurodevelopmental conditions. Significant barriers prevent family access to FASD-informed care. To improve accessibility, a scalable mobile health intervention for caregivers of children with FASD is under development. The app, called Families Moving Forward (FMF) Connect, is derived from the FMF Program, a parenting intervention tailored for FASD. FMF Connect has 5 components: Learning Modules, Family Forum, Library, Notebook, and Dashboard. Objective This study assesses the feasibility of FMF Connect intervention prototypes. This includes examining app usage data and evaluating user experience to guide further refinements. Methods Two rounds of beta-testing were conducted as part of a systematic approach to the development and evaluation of FMF Connect: (1) an iOS prototype was tested with 20 caregivers of children (aged 3-17 years) with FASD and 17 providers for the first round (April-May 2019) and (2) iOS and Android prototypes were tested with 25 caregivers and 1 provider for the second round (November-December 2019). After each 6-week trial, focus groups or individual interviews were completed. Usage analytics and thematic analysis were used to address feasibility objectives. Results Across beta-test trials, 84% (38/45) of caregivers and 94% (17/18) of providers installed the FMF Connect app. Technological issues were tracked in real time with updates to address problems and expand app functionalities. On use days, caregivers averaged 20 minutes using the app; most of the time was spent watching videos in Learning Modules. Caregiver engagement with the Learning Modules varied across 5 usage pattern tiers. Overall, 67% (30/45) of caregivers posted at least once in the Family Forum. Interviews were completed by 26 caregivers and 16 providers. App evaluations generally did not differ according to usage pattern tier or demographic characteristics. Globally, app users were very positive, with 2.5 times more positive- than negative-coded segments across participants. Positive evaluations emphasized the benefits of accessible information and practical utility of the app. Informational and video content were described as especially valuable to caregivers. A number of affective and social benefits of the app were identified, aligning well with the caregivers’ stated motivators for app use. Negative evaluations of user experience generally emphasized technical and navigational aspects. Refinements were made on the basis of feedback during the first beta test, which were positively received during the second round. Participants offered many valuable recommendations for continuing app refinement, which is useful in improving user experience. Conclusions The results demonstrate that the FMF Connect intervention is acceptable and feasible for caregivers raising children with FASD. They will guide subsequent app refinement before large-scale randomized testing. This study used a systematic, user-centered design approach for app development and evaluation. The approach used here may illustrate a model that can broadly inform the development of mobile health and digital parenting interventions.

2021 ◽  
Hannah E. Silverman ◽  
Jeannie M. Ake ◽  
Masood Manoochehri ◽  
Brian S. Appleby ◽  
Danielle Brushaber ◽  

Marco Fiore ◽  
Carla Petrella ◽  
Giovanna Coriale ◽  
Pamela Rosso ◽  
Elena Fico ◽  

Background: Fetal Alcohol Spectrum Disorders (FASD) are the manifestation of the damage caused by alcohol consumption during pregnancy. Children with Fetal Alcohol Syndrome (FAS), the extreme FASD manifestation, show both facial dysmorphology and mental retardation. Alcohol consumed during gestational age prejudices brain development by reducing, among others, the synthesis and release of neurotrophic factors and neuroinflammatory markers. Alcohol drinking induces also oxidative stress. Hypothesis/Objective : The present study aims at investigating the potential association between neurotrophins, neuroinflammation and oxidative stress in 12 prepubertal male and female FASD children diagnosed as FAS or partial FAS (pFAS). Methods: Accordingly, we analyzed, in the serum, the level of BDNF and NGF and the oxidative stress, as free oxygen radicals test (FORT) and free oxygen radicals defense (FORD). Moreover, serum levels of inflammatory mediators (IL-1α, IL-2, IL-6, IL-10, IL-12, MCP-1, TGF-β and TNF-α) involved in neuroinflammatory and oxidative processes have been investigated. Results: We demonstrated in pre-pubertal FASD children low serum levels of NGF and BDNF, respect to healthy controls. These changes were associated with higher serum presence of TNF-α and IL-1α. Quite interestingly, an elevation in the FORD was also found despite normal FORT levels. Moreover, we found a potentiation of IL-1α, IL-2, IL-10 and IL-1α1 in the analyzed female compared to male children. Conclusion: The present investigation shows an imbalance in the peripheral neuroimmune pathways that could be used in children as early biomarkers of the deficits observed in FASD.

2021 ◽  
Vol 19 ◽  
Harald Hampel ◽  
Giuseppe Caruso ◽  
Robert Nisticò ◽  
Gaia Piccioni ◽  
Nicola B. Mercuri ◽  

: In Oncology, comprehensive Omics and functional enrichment studies led to an extensive profiling of (epi)genetic and neurobiological alterations that can be mapped onto a single tumor’s clinical phenotype and divergent clinical phenotypes expressing common pathophysiological pathways. Consequently, molecular pathway-based therapeutic interventions for different cancer typologies, namely tumor type- and site-agnostic treatments, have been developed, encouraging real-world implementation of a paradigm shift in medicine. Given the breakthrough nature of the new-generation translational research and drug development in Oncology, there is an increasing rationale to transfertilize this blueprint to other medical fields including Psychiatry and Neurology. To illustrate the emerging paradigm shift in neuroscience, we provide a state-of-the-art review of translational studies on the β-site amyloid precursor protein cleaving enzyme (BACE) and its most studied downstream effector, neuregulin, which are molecular orchestrators of distinct biological pathways involved in several neurological and psychiatric diseases. This body of data aligns with the evidence of a shared genetic/biological architecture among Alzheimer’s disease, schizoaffective and autism spectrum disorders. We engage in a speculative intellectual exercise gravitating around the BACE-related science, here used as paradigmatic case, to facilitating a forward-looking discussion about a potential first step towards the adoption of biological pathway-based, clinical symptom agnostic, categorization models in clinical Neurology and Psychiatry for precision medicine solutions. We draw a perspective whereby pathway-based therapeutic strategies could be catalyzed by high-throughput techniques, embedded in systems-scaled biology, neuroscience, and pharmacology approaches that will help overcome the constraints of traditional descriptive clinical symptom and syndrome-focused constructs in Neurology and Psychiatry.

O. Petrusenko ◽  
I. Bodnar

In connection with the increasing the number of children with autism spectrum disorders (ASD) who enrolls in educational institutions of Ukraine, the issue of individualization of physical education (PE) of children with ASD in the school process becomes important. There is little data on the quality of life of schoolchildren with autism spectrum disorders. It does not allow to draw individual trajectories of physical education of such children, to help them to improve their adaptability. Most of studies have been performed on males. Objective: to analyze the level of cognitive, physical, emotional, social functioning and functioning in school of girls of primary school age with autism spectrum disorders and compare them with typically developed peers. It was found that there were no differences between the rates of girls with ASD and girls with typical development in walking and running, feeling of pain and low energy levels, the frequency of school absences due to doctor visits and the frequency of forgetting things. However, the level of development of cognitive, social and emotional functioning of girls with ASD is significantly lower than the indicators with typical development by all criteria. To overcome the problems with cognitive, social and emotional functioning of girls with ASD, it is recommended to select appropriate means of PE. In oder to improve the cognitive processes (attention, memory) of girls with ASD, we recommend to increase the amount of means that promote the development of coordination in PE classes; to improve physical functioning - exercises for developing muscle strength and endurance. The game activity with normal girls will help to improve the social well-being of girls with ASD. We should use oriental martial arts and oriental gymnastics to improve the psycho-emotional state of girls with ASD.

2021 ◽  
Thiago Gonçalves Fukuda ◽  
Ivã Taiuan Fialho Silva ◽  
Tayla Samanta Silva dos Santos ◽  
Marcos Baruch Portela Filho ◽  
Fernanda Ferreira de Abreu ◽  

Abstract Introduction: Neuromyelitis optic spectrum disorders (NMOSD) is a rare inflammatory and demyelinating disease of the central nervous system (CNS) more frequent in women and Afro-descendants. No previous epidemiological or prognostic study has been conducted in the region of the state of Bahia, Brazilian Northeast. Objective: To evaluate clinical and prognostic aspects in patients with NMOSD from a cohort in northeastern Brazil. Material and Methods: A single-center retrospective study was conducted with consecutive patients diagnosed with NMOSD. Clinical and epidemiological characteristics were described. The degree of disability was expressed by the Expanded Disability Status Scale (EDSS). Worsening disability were analyzed through negative binomial regression adjusted for disease duration. Results: Ninety-one patients were included, 72 (79.1%) female and 67 (73.6%) afro descendants. Mean age at onset was 36 (± 14) years and 73.3% were anti-aquaporin-4 antibody positive. Isolated transverse myelitis (32.9%) and isolated optic neuritis (22.4%) were the most frequent initial clinical syndromes. After multivariate analysis, optic neuritis (RR = 0.15; 95% CI=0.03 – 0.59; p = 0.008) and dyslipidemia (RR = 0.07; 95% CI=0.04 – 0.40; p < 0.001) were associated with slower disease progression. Area postrema involvement (RR = 29.69; 95% CI=3.40 – 226.07; p = 0.002) and age at onset (RR = 1.05; 95% CI=1.00 – 1.10; p = 0.037) were associated with faster disease progression. Conclusions: In the first clinical and prognostic study in northeastern Brazil, we identified area postrema involvement, age at onset, optic neuritis at fist syndrome and dyslipidemia as the main prognostic factors associated with disease progression.

2021 ◽  
Vol 11 (12) ◽  
pp. 165
Marco Esposito ◽  
Maria Teresa Dipierro ◽  
Federica Mondani ◽  
Giulia Iurato ◽  
Paolo Mirizzi ◽  

Autism spectrum disorders represent a challenge for professionals, who must include in their individualized educational interventions goals for core symptoms (social–communication and stereotypies/restricted interests) and comorbidities. The narrowness of interests and the high frequency of repetitive behaviors in children with autism often constitute an obstacle for learning and the quality of life, and for their caregivers as well. In the scientific literature, behavioral interventions based on both aversive and, less commonly, positive procedures have been implemented to reduce the frequency of stereotypies. The following study was carried out with the intention of replicating a Stimulus-Stimulus Pairing procedure applied by Nuzzolo-Gomez, Leonard, Ortiz, Rivera and Greer (2002) in order to reduce stereotypies in children. This procedure was applied to three children diagnosed with autism aged five, almost six and seven years, in order to reduce stereotypies when children watched movies. An A-B-A experimental design with three subjects was used for this research. The results showed a decrease in stereotypies in favor of appropriate behaviors.

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