scholarly journals Brain adaptation and alternative developmental trajectories

2015 ◽  
Vol 27 (2) ◽  
pp. 425-442 ◽  
Author(s):  
Mark H. Johnson ◽  
Emily J. H. Jones ◽  
Teodora Gliga
Keyword(s):  
Developmental Disorders ◽  
Niche Construction ◽  
Developmental Trajectories ◽  
Developmental Rate ◽  
Synaptic Function ◽  
Major Interest ◽  
The Face ◽  
Key Features ◽  
Adaptation Processes ◽  
Human Brains

AbstractResilience and adaptation in the face of early genetic or environmental risk has become a major interest in child psychiatry over recent years. However, we still remain far from an understanding of how developing human brains as a whole adapt to the diffuse and widespread atypical synaptic function that may be characteristic of some common developmental disorders. The first part of this paper discusses four types of whole-brain adaptation in the face of early risk: redundancy, reorganization, niche construction, and adjustment of developmental rate. The second part of the paper applies these adaptation processes specifically to autism. We speculate that key features of autism may be the end result of processes of early brain adaptation, rather than the direct consequences of ongoing neural pathology.

scholarly journals Two different epigenetic pathways detected in wild three-spined sticklebacks are involved in salinity adaptation

2019 ◽  
Author(s):  
Melanie J. Heckwolf ◽  
Britta S. Meyer ◽  
Robert Häsler ◽  
Marc P. Höppner ◽  
Christophe Eizaguirre ◽  
...  
Keyword(s):  
Natural Selection ◽  
Gasterosteus Aculeatus ◽  
Natural Populations ◽  
Wild Populations ◽  
Epigenetic Marks ◽  
Transgenerational Plasticity ◽  
The Face ◽  
Adaptation Processes ◽  
Methylation Patterns ◽  
Rapid Emergence

AbstractWhile environmentally inducible epigenetic marks are discussed as one mechanism of transgenerational plasticity, environmentally stable epigenetic marks emerge randomly. When resulting in variable phenotypes, stable marks can be targets of natural selection analogous to DNA sequence-based adaptation processes. We studied both postulated pathways in natural populations of three-spined sticklebacks (Gasterosteus aculeatus) and sequenced their methylomes and genomes across a salinity cline. Consistent with local adaptation, populations showed differential methylation (pop-DMS) at genes enriched for osmoregulatory processes. In a two-generation experiment, 62% of these pop-DMS were insensitive to salinity manipulation, suggesting that they could be stable targets for natural selection. Two-thirds of the remaining inducible pop-DMS became more similar to patterns detected in wild populations from the corresponding salinity, and this pattern accentuated over consecutive generations, indicating a mechanism of adaptive transgenerational plasticity. Natural DNA methylation patterns can thus be attributed to two epigenetic pathways underlying the rapid emergence of adaptive phenotypes in the face of environmental change.

scholarly journals Hedgehog Signaling and Embryonic Craniofacial Disorders

2019 ◽  
Vol 7 (2) ◽  
pp. 9 ◽  
Author(s):  
Abramyan
Keyword(s):  
Hedgehog Signaling ◽  
Developmental Disorders ◽  
Critical Role ◽  
Hedgehog Pathway ◽  
Developmental Defects ◽  
Downstream Target ◽  
Secondary Palate ◽  
The Face ◽  
Range Of Functions ◽  
Key Aspects

Since its initial discovery in a Drosophila mutagenesis screen, the Hedgehog pathway has been revealed to be instrumental in the proper development of the vertebrate face. Vertebrates possess three hedgehog paralogs: Sonic hedgehog (Shh), Indian hedgehog (Ihh), and Desert hedgehog (Dhh). Of the three, Shh has the broadest range of functions both in the face and elsewhere in the embryo, while Ihh and Dhh play more limited roles. The Hedgehog pathway is instrumental from the period of prechordal plate formation early in the embryo, until the fusion of the lip and secondary palate, which complete the major patterning events of the face. Disruption of Hedgehog signaling results in an array of developmental disorders in the face, ranging from minor alterations in the distance between the eyes to more serious conditions such as severe clefting of the lip and palate. Despite its critical role, Hedgehog signaling seems to be disrupted through a number of mechanisms that may either be direct, as in mutation of a downstream target of the Hedgehog ligand, or indirect, such as mutation in a ciliary protein that is otherwise seemingly unrelated to the Hedgehog pathway. A number of teratogens such as alcohol, statins and steroidal alkaloids also disrupt key aspects of Hedgehog signal transduction, leading to developmental defects that are similar, if not identical, to those of Hedgehog pathway mutations. The aim of this review is to highlight the variety of roles that Hedgehog signaling plays in developmental disorders of the vertebrate face.

Paideia, Prejudice and the Promise of the Practical

1998 ◽  
pp. 150-158
Author(s):  
Padraig Hogan
Keyword(s):  
Educational Aspirations ◽  
Educational Practice ◽  
Educational Practices ◽  
Cultural Inheritance ◽  
Cultural Ideals ◽  
Radical Pluralism ◽  
Human Understanding ◽  
The Face ◽  
Key Features

In an age of radical pluralism it is increasingly difficult to affirm and sustain the educational aspirations of Greek paideia (Latin humanitas). The most challenging attacks on these aspirations come from standpoints which share a postmodern attitude of opposition towards inherited cultural ideals, especially those which claim universality. This paper first examines optimistic and pessimistic prospects for the educational heritage of humanitas, concluding that, in the face of cultural disparateness which is increasingly evident in post-Enlightenment cultures, the pessimistic case seems to be more convincing. Recognizing that this gives added impetus to postmodernist standpoints, the second section examines some key features of these, taking as its examples arguments of Lyotard, Foucault and Rorty. I show that the prejudices of the postmodernist arguments are as invidious as the discriminatory assumptions and the neglect of the quality of educational practice in the Western cultural inheritance. Recalling some insights which can be gleaned from the educational practices of Socrates, the last section joins these with findings of contemporary philosophers on the pre-judgements and partiality which are inescapable features of human understanding. This is a reclamation and elucidation of a practical and promising humanitas which does justice to the claims of diversity and universality.

scholarly journals CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

2017 ◽  
Author(s):  
Lara Rodriguez-Laguna ◽  
Kristina Ibañez ◽  
Gema Gordo ◽  
Sixto Garcia-Minaur ◽  
Fernando Santos-Simarro ◽  
...  
Keyword(s):  
Natural History ◽  
Developmental Disorders ◽  
Somatic Mosaicism ◽  
Clinical Manifestations ◽  
Tissue Samples ◽  
Lower Lip ◽  
Pik3ca Mutations ◽  
Activating Mutations ◽  
The Face ◽  
History Of

AbstractBackgroundCLAPO syndrome is a rare vascular disorder characterized by Capillary malformation of the lower lip, Lymphatic malformation predominant on the face and neck, Asymmetry, and Partial/generalized Overgrowth. Although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.Subjects and methodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from nine patients using high-throughput, deep sequencing.ResultsWe identified five activating mutations in the PIK3CA gene in affected tissues from six of the nine patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders.ConclusionsWe describe for the first time the presence of somatic activating PIK3CA mutations in patients with CLAPO. We also report an update of the phenotype and natural history of the syndrome.

scholarly journals Reabilitação oral conservadora em paciente juvenil com alterações orofaciais secundárias ao tratamento de rabdomiossarcoma em cabeça e pescoço: relato de caso / Conservative oral rehabilitation in a juvenile patient with orofacial alterations secondary to the treatment of rhabdomyosarcoma in the head and neck: case report

2020 ◽  
Vol 65 (1) ◽  
pp. 1
Author(s):  
Paula Guimarães Moreira ◽  
Regina Maria Holanda de Mendonça ◽  
Paulo Sérgio Da Silva Santos ◽  
Katia Maria Coutinho Cappellaro ◽  
Luis Cândido Pinto da Silva
Keyword(s):  
Head And Neck ◽  
Developmental Disorders ◽  
Therapeutic Modality ◽  
Facial Growth ◽  
Oral Rehabilitation ◽  
The Face ◽  
Antineoplastic Treatment ◽  
Bone Anomalies ◽  
Juvenile Patient

Introdução: O tratamento antineoplásico multimodal para tumores em cabeça e pescoço de crianças frequentemente acarreta distúrbios de desenvolvimento em dentes e estruturas faciais. Dentre as alterações observadas estão as anomalias ósseas, agenesias dentárias, microdontia, anomalias de esmalte e, sobretudo, malformações radiculares e coronárias.A frequência e intensidade dessas alterações estão relacionadas com a idade da criança durante o tratamento, a modalidade terapêutica, o tipo de quimioterápico, a dose de radiação e o campo irradiado. Objetivo/Relato de Caso: Este trabalho tem como objetivo descrever o tratamento reabilitador oral conservador, por meio de confecção de prótese total superior do tipo overdenture, em paciente juvenil com severos distúrbios de desenvolvimento dentário e ósseo, consequentes do tratamento de rabdomiossarcoma em nasofaringe realizado aos dois anos de idade. Conclusão: Este relato enfatiza a importância do acompanhamento odontológico regular de pacientes pediátricos irradiados em face, até que o crescimento facial se complete, permitindo a manutenção da função e estética.Palavras Chave: Reabilitação bucal, Pediatria, Rabdomiossarcoma, Face, NasofaringeABSTRACTIntroduction: Multimodal antineoplastic treatment for tumors in the head and neck of children often leads to developmental disorders in teeth and facial structures. Among the alterations observed are bone anomalies, dental agenesis, microdontia, enamel anomalies and, mainly, root and coronary malformations. The frequency and intensity of these changes are related to the age of the child during treatment, the therapeutic modality, the type of chemotherapy, the radiation dose and the irradiated field. Aim/Report Case: This work aims to describe the conservative oral rehabilitation treatment, by means of the construction of a superior overdenture, in a patient with severe dental and bone developmental disorders resulting from the treatment of nasopharyngeal rhabdomyosarcoma performed at two years of age. Conclusion: This report emphasizes the importance of regular dental follow-up of pediatric irradiated patients on the face, until facial growth is complete, allowing maintenance of function and aesthetics.Keywords: Mouth rehabilitation, Pediatrics, Rhabdomyosarcoma, Face, Nasopharynx

scholarly journals Spatial and Temporal Gene Function Studies in Rodents: Towards Gene-Based Therapies for Autism Spectrum Disorder

Genes ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 28
Author(s):  
Iris W. Riemersma ◽  
Robbert Havekes ◽  
Martien J. H. Kas
Keyword(s):  
Autism Spectrum Disorder ◽  
Gene Function ◽  
Current Knowledge ◽  
Developmental Trajectories ◽  
Autism Spectrum ◽  
Synaptic Function ◽  
Repetitive Behaviors ◽  
Spectrum Disorder ◽  
Restricted Interests ◽  
Highly Correlated

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition that is characterized by differences in social interaction, repetitive behaviors, restricted interests, and sensory differences beginning early in life. Especially sensory symptoms are highly correlated with the severity of other behavioral differences. ASD is a highly heterogeneous condition on multiple levels, including clinical presentation, genetics, and developmental trajectories. Over a thousand genes have been implicated in ASD. This has facilitated the generation of more than two hundred genetic mouse models that are contributing to understanding the biological underpinnings of ASD. Since the first symptoms already arise during early life, it is especially important to identify both spatial and temporal gene functions in relation to the ASD phenotype. To further decompose the heterogeneity, ASD-related genes can be divided into different subgroups based on common functions, such as genes involved in synaptic function. Furthermore, finding common biological processes that are modulated by this subgroup of genes is essential for possible patient stratification and the development of personalized early treatments. Here, we review the current knowledge on behavioral rodent models of synaptic dysfunction by focusing on behavioral phenotypes, spatial and temporal gene function, and molecular targets that could lead to new targeted gene-based therapy.

Telehealth Technology and Pediatric Feeding Disorders

2015 ◽  
pp. 278-291
Author(s):  
Taylor A. Luke ◽  
Rebecca R. Ruchlin
Keyword(s):  
Current Literature ◽  
Developmental Disorders ◽  
Feeding Disorders ◽  
Behavioral Management ◽  
Face To Face ◽  
Parents And Children ◽  
The Face ◽  
Therapy Services ◽  
Pediatric Feeding ◽  
Feeding Therapy

Ongoing advances in technology have provided a platform to extend the accessibility of services for children with developmental disabilities across locations, languages and the socioeconomic continuum. Teletherapy, the use of video-conferencing technology to deliver therapy services, is changing the face of healthcare by providing face-to-face interactions among specialists, parents and children. The current literature has demonstrated success in utilizing teletherapy as a modality for speech-language intervention and for social-behavioral management, while research on feeding therapy remains scarce. The current chapter discusses the prevalence of feeding disorders among infants, toddlers and children with developmental disorders. Using evidence from the current literature, a rationale for the utilization of teletherapy as a means of feeding therapy is presented.

scholarly journals Key features of professional thesaurus and problems of translating scientific texts in speech therapy

2020 ◽  
pp. 125-133
Author(s):  
Irina V. Novitskaia
Keyword(s):  
Scientific Knowledge ◽  
Speech Therapy ◽  
Modern Science ◽  
Broad Context ◽  
Important Condition ◽  
Scientific Texts ◽  
International Space ◽  
Research Paradigms ◽  
The Face ◽  
Key Features

The article highlights the problem of synthesis of scientific knowledge and changes in the face of modern science. There is a need to correlate the category apparatus of domestic and foreign speech therapy, as well as the need to clarify the semantics of fundamental terms accepted in Russia and abroad, which is an important condition for the development of speech therapy as a modern field of scientific knowledge, as well as training specialists capable of participating in the development of methods of correction in the broad context of scientific directions and understanding of research paradigms in the international space. The author considers the peculiarities of the professional thesaurus, analyzes specific features of humanitarian discourse and related problems of translating scientific texts in speech therapy.

scholarly journals Perinatal THC Exposure via Lactation Induces Lasting Alterations to Social Behavior and Prefrontal Cortex Function in Rats at Adulthood

2020 ◽  
Author(s):  
Andrew F Scheyer ◽  
Milene Borsoi ◽  
Olivier JJ Manzoni
Keyword(s):  
Prefrontal Cortex ◽  
Pyramidal Neurons ◽  
Developmental Trajectories ◽  
Long Term Potentiation ◽  
Postnatal Period ◽  
Synaptic Function ◽  
Female Rat ◽  
Female Progeny ◽  
Male And Female

AbstractCannabis is the world’s most widely abused illicit drug and consumption amongst women during and surrounding the period of pregnancy is increasing. Previously, we have shown that cannabinoid exposure via lactation during the early postnatal period disrupts early developmental trajectories of prefrontal cortex maturation and induces behavioral abnormalities during the first weeks of life in male and female rat progeny. Here, we investigated the lasting consequences of this postnatal cannabinoid exposure on synaptic and behavioral parameters in the adult offspring of Δ9-tetrahydrocannabinol (THC)-treated dams. At adulthood, these perinatally THC-exposed rats exhibits deficits in social discrimination accompanied by an overall augmentation of social exploratory behavior. These behavioral alterations were further correlated with multiple abnormalities in synaptic plasticity in the prefrontal cortex, including lost endocannabinoid-mediated long-term depression (LTD), lost long-term potentiation and augmented mGlu2/3-LTD. Finally, basic parameters of intrinsic excitability at prefrontal cortex pyramidal neurons were similarly altered by the perinatal THC exposure. Thus, perinatal THC exposure via lactation induces lasting deficits in behavior and synaptic function which persist into adulthood life in male and female progeny.

scholarly journals BIC Defacing Algorithm

2018 ◽  
Author(s):  
Vladimir S. Fonov ◽  
Louis D. Collins
Keyword(s):  
Young Adults ◽  
Data Processing ◽  
Brain Tissue ◽  
Source Code ◽  
Brain Segmentation ◽  
Brain Extraction ◽  
The Face ◽  
The Subject ◽  
Key Features ◽  
Subject Making

AbstractPublic distribution of imaging information from several MRI data processing projects at the BIC has lead to the development of this DEFACING algorithm that is used as part of anonymisation process. Key features of the algorithm include: the defacing should modify voxels associated with face of the subject, making a rendering of the face unrecognisable, it should work on data in the native scanner space and it should not significantly affect subsequent data processing outcome (model based registration, brain extraction, brain tissue classification and brain segmentation). The algorithm is implemented using the MINC library and source code is publicly available. The effect of the defacing algorithm on the data processing was verified using the ICBM database of 152 scans of young adults.

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