developmental disorders
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2022 ◽  
Vol 8 (2) ◽  
Author(s):  
Ruth Nussinov ◽  
Chung-Jung Tsai ◽  
Hyunbum Jang

This review offers why same-gene mutations can lead to cancer and neurodevelopmental disorders and why a high risk of cancer.


2022 ◽  
Author(s):  
Min Li ◽  
Ying Wang ◽  
Carlos Lopez-Naranjo ◽  
Aini Ismafairus Abd Hamid ◽  
Alan C. Evans ◽  
...  

This paper extends our frequency domain quantitative electroencephalography (qEEG) methods pursuing higher sensitivity to detect Brain Developmental Disorders. Prior qEEG work lacked integration of cross-spectral information omitting important functional connectivity descriptors. Lack of geographical diversity precluded accounting for site-specific variance, increasing qEEG nuisance variance. We ameliorate these weaknesses. i) Create lifespan Hermitian Riemannian multinational qEEG norms for cross-spectral tensors. These norms result from the HarMNqEEG project fostered by the Global Brain Consortium. We calculate the norms with data from 9 countries, 12 devices, and 14 studies, including 1564 subjects. Instead of raw data, only anonymized metadata and EEG cross-spectral tensors were shared. After visual and automatic quality control developmental equations for the mean and standard deviation of qEEG traditional and Hermitian Riemannian descriptive parameters were calculated using additive mixed-effects models. We demonstrate qEEG "batch effects" and provide methods to calculate harmonized z-scores. ii) We also show that the multinational harmonized Hermitian Riemannian norms produce z-scores with increased diagnostic accuracy to predict brain dysfunction at school-age produced by malnutrition only in the first year of life. We provide data and software for constructing norms. iii) We offer open code and data to calculate different individual z-scores from the HarMNqEEG dataset. These results contribute to developing bias-free, low-cost neuroimaging technologies applicable in various health settings.


Author(s):  
Candela J. Hüsgen ◽  
Nienke C. Peters-Scheffer ◽  
Robert Didden

Abstract Objectives Animal-assisted therapy with dogs is regularly used in children with behavioural and developmental disorders. Aims of this systematic review were threefold: to analyse the methodological quality of studies on dog-assisted therapy (DAT) for children with behavioural and developmental disorders, to determine to which extent the studies on DAT adhere to the quality criteria developed by the International Association of Human Animal Interaction Organisation (IAHAIO) and to describe the characteristics of the participants, the intervention and the outcomes. Method Three databases (i.e. PsycInfo, MedLine and Eric) were searched, and 14 studies on DAT were included. The Joanna Briggs Institute checklist (JBIC) and the quality criteria developed by the IAHAIO were used during data extraction. Characteristics of the participants, the intervention, the therapy dogs and the outcomes of the studies were summarised. Results Six of the 14 included studies reported significant outcomes of DAT, whereof six in the social domain and two in the psychological domain. However, scores on the JBIC indicated low to moderate methodological quality and only three of the included studies adhered to the IAHAIO quality criteria. Conclusions DAT is a promising intervention for children with behavioural and developmental disorders, especially for children with autism spectrum disorder. A clear description of the therapy’s components, the role of the therapy dog and analysis of the treatment integrity and procedural fidelity would improve the methodological quality of the studies and the field of dog-assisted interventions.


2022 ◽  
Author(s):  
Hamish Scott ◽  
Alicia Byrne ◽  
Peer Arts ◽  
Thuong Ha ◽  
Karin Kassahn ◽  
...  

Abstract Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provided a definite or candidate genetic diagnosis in 105 families. From this understudied cohort, half of the (candidate) diagnoses were phenotype expansions or novel disease genes, revealing previously unknown in-utero presentations of existing developmental disorders, and genomic disorders that are likely incompatible with life. Among the definite diagnoses, 43% were recessively or dominantly inherited, posing a 25% or 50% recurrence risk for future pregnancies. Ten families used their diagnosis for preimplantation or prenatal diagnosis of 12 pregnancies, facilitating the delivery of ten healthy newborns and management of two affected pregnancies. We emphasize the clinical importance of genomic investigations of perinatal death, with short turn-around times, enabling accurate counselling and options for families to prevent recurrence.


Kuntoutus ◽  
2022 ◽  
Vol 39 (1) ◽  
pp. 6-21
Author(s):  
Anu Kippola-Pääkkönen ◽  
Kristiina Härkäpää ◽  
Aila Järvikoski ◽  
Ilona Autti-Rämö

Sopeutumisvalmennus on psykososiaalista kuntoutusta, joka tarjoaa tietoa ja tukea sairaudesta tai vammasta, sen hoidosta ja selviytymiskeinoista. Lapset ja nuoret, joilla on pitkäaikaissairaus tai kehityksen häiriöitä, osallistuvat sopeutumisvalmennukseen useimmiten perheenjäsentensä kanssa. Tämän tutkimuksen tavoitteena oli 1) selvittää vanhempien käsityksiä lasten hyvinvoinnista ja toimintakyvystä, 2) arvioida vanhempien omaa hyvinvointia ja perheiden valtaistumista ja 3) selvittää kurssiodotuksia ja niihin yhteydessä olevia tekijöitä. Tutkimus kohdistui Kelan kuntoutuksena vuosina 2014–15 toteutettuihin diabeteskursseihin, oppimisen tai psyykkisen kehityksen häiriöiden kursseihin sekä moni- ja liikuntavammaisten lasten kursseihin. Lasten vanhemmat vastasivat kurssin alussa lomakekyselyyn (n = 357, vastausprosentti 59 %). Kaikissa kurssiryhmissä useimmat vanhemmat arvioivat lapsen terveydentilan hyväksi tai melko hyväksi. Vanhempien arviot niin omasta kuin lapsenkin hyvinvoinnista erosivat kurssiryhmittäin, mutta myös kurssiryhmien sisällä ilmeni vaihtelua. Vanhemmat, joiden lapsella oli diabetes, arvioivat hyvinvointia myönteisemmin kuin vanhemmat, joiden lapsella oli kehityksellinen häiriö. Vanhempien arviot omasta hyvinvoinnistaan korreloivat melko vahvasti lasta koskeviin hyvinvointiarvioihin. Sopeutumisvalmennukseen liittyvät odotukset ja tuen tarpeet koskivat erityisesti vertaistukea ja virkistäytymistä sekä tiedon saantia sairaudesta ja sen hoidosta ja kuntoutuksesta. Kurssiryhmä, lapsen toimintakyvyn rajoitteet, vanhempien hyvinvointi ja perheiden valtaistuminen olivat yhteydessä perheiden odotuksiin ja tuen tarpeisiin. Tutkimuksen keskeinen tulos koski perheen valtaistumisen ja kurssiodotusten välistä yhteyttä. Tarve ammatilliseen asiantuntijuuteen pohjautuvaan tietoon ja psykososiaaliseen tukeen oli vahvempaa niillä perheillä, joilla valtaistumisen tunne oli heikompaa. Sen sijaan ne perheet, joilla valtaistuminen oli voimakkaampaa, odottivat kursseilta vähemmän asiantuntijan tukea ja enemmän vertaistukea ja virkistäytymistä. Abstract Parents´  evaluations of their children´s wellbeing and functioning and identified expectations for psychosocial rehabilitation Finnish adaptation training represents psychosocial rehabilitation, which aims to offer information and guidance for living with an illness or disability as well as promoting coping skills. Children and adolescents with chronic illnesses or developmental disorders participate adaptation training mostly with their family members. The aim of this study was to 1) examine the parents´ perceptions of their child´s wellbeing and functioning, 2) depict their assessments on their own wellbeing and family empowerment, and 3) investigate their needs and expectations for the adaptation training as well as factors connected with different expectations. The study focused on three courses arranged for children either with diabetes, learning or psychological development disorders or multiple or mobility disabilities. The courses were organized in three rehabilitation centers. The parents answered the questionnaire at the beginning of the course (n=357, response rate 59 %). In all course groups most parents perceived their child’s health fairly good or good. The parents of children with diabetes evaluated their child’s wellbeing more positively than the parents of children with developmental disorders. The parents’ wellbeing correlated positively with the children´s wellbeing. Strongest rehabilitation needs and expectations were related to the domains of peer support and recreation, and information about illness or disability and its treatment. The course group, disability of the child, wellbeing of parents and children, and family empowerment were associated with the expectations and needs factors. The main finding of this study addressed the relationship ofthe family empowerment to the expectation domains. Families with weaker empowerment expressed more expectations and needs for professional information and support. More strongly empowered families expressed less needs for professional support and information but more expectations for peer support and recreation.


2022 ◽  
Vol 13 (1) ◽  
Author(s):  
Qingqing Yan ◽  
Phillip Wulfridge ◽  
John Doherty ◽  
Jose L. Fernandez-Luna ◽  
Pedro J. Real ◽  
...  

AbstractR-loops are three-stranded nucleic acid structures that accumulate on chromatin in neurological diseases and cancers and contribute to genome instability. Using a proximity-dependent labeling system, we identified distinct classes of proteins that regulate R-loops in vivo through different mechanisms. We show that ATRX suppresses R-loops by interacting with RNAs and preventing R-loop formation. Our proteomics screen also discovered an unexpected enrichment for proteins containing zinc fingers and homeodomains. One of the most consistently enriched proteins was activity-dependent neuroprotective protein (ADNP), which is frequently mutated in ASD and causal in ADNP syndrome. We find that ADNP resolves R-loops in vitro and that it is necessary to suppress R-loops in vivo at its genomic targets. Furthermore, deletion of the ADNP homeodomain severely diminishes R-loop resolution activity in vitro, results in R-loop accumulation at ADNP targets, and compromises neuronal differentiation. Notably, patient-derived human induced pluripotent stem cells that contain an ADNP syndrome-causing mutation exhibit R-loop and CTCF accumulation at ADNP targets. Our findings point to a specific role for ADNP-mediated R-loop resolution in physiological and pathological neuronal function and, more broadly, to a role for zinc finger and homeodomain proteins in R-loop regulation, with important implications for developmental disorders and cancers.


2022 ◽  
Vol 27 ◽  
pp. 194-206
Author(s):  
Aikaterini Doulou ◽  
Athanasios Drigas

In recent years, there has been an increase in the incidence of ADHD in children and adolescents. Many learning and behavioral problems are associated with this disorder due to difficulties in cognitive and metacognitive functions. Only when individuals improve these functions will they be able to integrate in the social environment. Skills such as self-awareness, self-regulation, and self-control can help children with ADHD develop their emotional intelligence to control their cognitive deficits and adapt to diverse areas. With the rapid development of science, several medical and behavioral methods have been proposed to treat ADHD, which have contributed significantly to the control of symptoms. However, medication is considered as a first-choice treatment to reduce the symptoms. The present study investigates the comorbidity of ADHD with other mental and developmental disorders as also the role and effectiveness of drug intervention in order to improve the quality of life of these children.


Author(s):  
Shiori Ishida ◽  
Hiromi Okuno ◽  
Hisato Igarashi ◽  
Hiroko Takahashi

AbstractMany parents carry exceptional burdens in childcare, especially while raising children with developmental disabilities (DD). Japanese local governments provide considerable support to mothers and their families, which indicates that such services are in high demand. However, similar assistance for fathers in the context of children with DD may be lacking. This study evaluated the social support status of fathers raising children with DD towards considering increased paternal support. Multiple-choice questionnaires on support for information (6 items), emotion (7 items), evaluation (3 items), and daily living (3 items) were completed by Japanese fathers (n = 85) and mothers (n = 101) of children with DD attending rehabilitation facilities. Regarding information support, fathers answered “spouse” as the main provider for all items, which differed significantly from mothers. For emotional support, fathers significantly more frequently received assistance from their workplace and spouse. Daily living support was also significantly more predominant for fathers in the workplace. Evaluation support sources were comparable between the respondent groups, with “spouse” being most frequently answered by fathers. These findings indicate a deficiency in external resources for fathers and support a need to consider increasing non-spouse resources and social support for fathers in raising children with DD.


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