Distinguishing proximal from distal causes is useful and compatible with accounts of compensatory processing in developmental disorders of cognition

2002 ◽  
Vol 25 (6) ◽  
pp. 758-759 ◽  
Author(s):  
Nancy Ewald Jackson ◽  
Max Coltheart
Keyword(s):  
Cognitive Development ◽  
Developmental Disorders ◽  
Cognitive Systems ◽  
Made In

Models of the architecture of mature cognitive systems can inform the study of normal and disordered cognitive development, if one distinguishes between proximal and distal causes of performance. The assumption of residual normality need not be made in order to apply adult models to performance early in development, because these models can be modified to reflect the results of compensatory processing.

scholarly journals Neural correlates of orbital telorism

2021 ◽  
Author(s):  
Mikolaj A Pawlak ◽  
Maria J Knol ◽  
Meike W Vernoiij ◽  
Mohammad Arfan Ikram ◽  
Hieab Adams ◽  
...  
Keyword(s):  
General Population ◽  
Developmental Disorders ◽  
Grey Matter ◽  
Fluid Intelligence ◽  
Neural Correlates ◽  
Population Based ◽  
P Value ◽  
Magnetic Reso ◽  
The Brain ◽  
Made In

Orbital telorism, the interocular distance, is a clinically informative and in extremes is considered a mi-nor physical anomaly. While its extremes, hypo- and hypertelorism, have been linked to disorders often related to cognitive ability, little is known about the neural correlates of normal variation of telorism within the general population. We derived measures of orbital telorism from cranial magnetic reso-nance imaging (MRI) by calculating the distance between the eyeball center of gravity in two population-based datasets (N=5,653, N=29,824, Mean age 64.66, 63.75 years). This measure was found to be related grey matter tissue density within numerous regions of the brain, including, but surprisingly not limited to, the frontal regions, in both positive and negative directions. Additionally, telorism was related to several cognitive functions, such as Perdue Pegboard test (Beta, P-value, (CI95%) -0.02, 1.63x10-7(-0.03;-0.01)) and fluid intelligence (0.02, 4.75x10-06 (0.01:0.02)), with some relationships driven by individuals with a smaller orbital telorism. This is reflective of the higher prevalence of hypo-telorism in developmental disorders, specifically those that are lower functioning. This study suggests, despite previous links only made in clinical extremes, that orbital telorism holds some relation to structural brain development and cognitive function in the general population. This relationship is likely driven by shared developmental periods.

scholarly journals An updated SYSCILIA gold standard (SCGSv2) of known ciliary genes, revealing the vast progress that has been made in the cilia research field

2021 ◽  
Author(s):  
Suly Saray Villa Vasquez ◽  
John van Dam ◽  
Gabrielle Wheway
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Gold Standard ◽  
Congenital Heart ◽  
Developmental Disorders ◽  
Research Field ◽  
The Past ◽  
Health And Disease ◽  
Made In ◽  
Standard List

Cilia are microtubule-based organelles with important functions in motility and sensation. They contribute to a broad spectrum of developmental disorders called ciliopathies, and have recently been linked to common conditions such as cancers and congenital heart disease. There has been increasing interest in the biology of cilia and their contribution to disease over the past two decades. As a result, in 2013 we published a ‘Gold Standard’ list of genes confirmed to be associated with cilia. This was published as part of the SYSCILIA consortium systems biology study dissecting the contribution of cilia to human health and disease, and was named the Syscilia Gold Standard (SCGS). Since this publication, interest in cilia and understanding of their functions has continued to grow, and we now present an updated SCGS version 2. This includes an additional 383 genes, more than doubling the size of SCGSv1. We use this dataset to conduct a review of advances in understanding of cilia biology 2013-2021, and perspectives on the future of cilia research. We hope that this continues to be a useful resource for the cilia community.

scholarly journals Mammalian DNA methyltransferases.

2006 ◽  
Vol 53 (2) ◽  
pp. 245-256 ◽  
Author(s):  
Pawel Siedlecki ◽  
Piotr Zielenkiewicz
Keyword(s):  
Developmental Disorders ◽  
Dna Methyltransferases ◽  
Diagnostic Tools ◽  
Therapeutic Effects ◽  
Aberrant Methylation ◽  
Promoter Regions ◽  
Long Time ◽  
Methylation Patterns ◽  
Enzymatic Machinery ◽  
Made In

DNA methylation is an epigenetic process affecting gene expression and chromatin organization. It can heritably silence or activate transcription of genes without any change in their nucleotide sequences, and for a long time was not recognized as an important regulatory mechanism. However, during the recent years it has been shown that improper methylation, especially hypermethylation of promoter regions, is observed in nearly all steps of tumorigenesis. Aberrant methylation is also the cause of several major pathologies including developmental disorders involving chromosome instabilities and mental retardation. A great progress has been made in our understanding of the enzymatic machinery involved in establishing and maintaining methylation patterns. This allowed for the development of new diagnostic tools and epigenetic treatment therapies. The new approaches hold a great potential; several inhibitors of DNA methyltransferases have already shown very promising therapeutic effects.

scholarly journals The Genetics and Learning Disorders of the Syndromes Involving Craniosynostosis

2021 ◽  
Vol 9 ◽  
Author(s):  
Sarabjot Singh-Makkar ◽  
Trissa Paul ◽  
Tanya Paul ◽  
Tashvin Paul ◽  
Pamela Youssef
Keyword(s):  
Cognitive Development ◽  
Protein Expression ◽  
Protein Kinases ◽  
Clinical Features ◽  
Developmental Disorders ◽  
Catalytic Domain ◽  
Learning Disorders ◽  
Psychiatric Conditions ◽  
Immunoglobulin Domain ◽  
Impaired Cognition

Prenatal genetic vehicles that lead to facial and cranial dysmorphias, specifically craniosynostosis, are seen in a spectrum of synostotic syndromes that include apert, crouzon, Kleeblattschadel deformity, saethre-chotzen, muenke, cranio-fronto-nasal syndrome, Robinow-Sorauf syndrome and beare-stevenson-cutis-gyrata syndrome. Specific genes involved in cranio-synostotic syndromes include: TWIST1, EFNB1, GLI2, DMD, YWHAE, IRAK2, FGFR1, FGFR2, FGFR3, CNTNAP2, ADAMTS18, SKI, MECP2, KIFBP, TCF12, H2AL1P, GAGE12D and possibly HDAC9. Regarding protein expression, conserved domains found in rpsblast for craniosynostosis using the NCBI homologene tool show IGc2 (smart00408) immunoglobulin C-2 Type, PKc_like (cl09925) Protein Kinases, catalytic domain, Ig (cl11960) Immunoglobulin domain. A discussion of all the syndromes involving craniosynostosis is beyond the scope of this paper. We will discuss the clinical features, genetics, cognitive development and associated psychiatric conditions of the more common syndromes involving craniosynostosis. We theorize that the clinical features and genetics of craniosynostosis involve a spectrum of syndromes on which there is variable severity and involvement of impaired cognition and developmental disorders.

scholarly journals Status gizi dan perkembangan anak usia 3-5 tahun di Kabupaten Bogor

2020 ◽  
Vol 8 (2) ◽  
pp. 143-148
Author(s):  
Sarah Melati Davidson ◽  
Ali Khomsan ◽  
Hadi Riyadi
Keyword(s):  
Cognitive Development ◽  
Child Development ◽  
Nutritional Status ◽  
Rural Areas ◽  
Growth And Development ◽  
Developmental Disorders ◽  
Child Growth ◽  
Fine Motor ◽  
Gross Motor ◽  
Active Communication

Background: Malnutrition in children under five causes a variety of developmental disorders. The nutritional need for children aged 3-5 age is very critical to reach optimum growth and development. Objectives: The purpose of this study is to analyse the association between nutritional status using WAZ, HAZ, WHZ index with gross motor, fine motor, passive communication, active communication, cognitive, self-help ability and social behavior development childred aged 3-5 years old. Methods: Data was obtained from a study entitled Improving Child Growth and Development through Nutrition and Psychosocial Intervention in Early Childhood Education (PAUD) Setting in Rural Areas and was fully funded by the Nestle Foundation (NF), Switzerland. The study design was cross-sectional, with 120 children aged 3-5 years old as subjects. Locations and subjects were selected purposively in Bogor District. Nutritional status was assesed by WAZ, HAZ, and WHZ index. Child development was assessed by using Bina Keluarga Balita questionnaire.Results: Most of the subjects had good nutritional status dan development level. WAZ indicator significantly associated with gross motor dan cognitive development (p<0.05). HAZ indicator significantly associated with gross motor, active communication skills and cognitive development (p<0.05). WHZ indicator significantly associated with fine motor and cognitive children (p<0.05). Conclusion: Nutritional status is associated with child development.

Development of Lexicon in Normal and Retarded Persons

1975 ◽  
Vol 37 (2) ◽  
pp. 391-402 ◽  
Author(s):  
John J. Winters ◽  
Mary Anne Brzoska
Keyword(s):  
Cognitive Development ◽  
Relative Efficiency ◽  
Verbal Learning ◽  
Age Of Acquisition ◽  
Chronological Age ◽  
Word Count ◽  
Expected Performance ◽  
Word Frequencies ◽  
Made In

One group of 24 noninstitutionalized retarded Ss and three groups of normal Ss ( ns = 26, 26, 21) labeled chromatic pictures of nouns in a study of the development of their lexicons. Lexical store development was related more to cognitive development (MA) than chronological age. This development was also more highly related with Carroll and White's measure of age of acquisition of words than to word frequencies in the Thorndike-Lorge word count. The retarded group's relative efficiency decreased as ease of labeling increased; this led to increasing decrement in performance below expected performance for that MA. This regress in lexical lag was discussed in terms of ages at which words are acquired and the earlier deficiencies of retarded children's lexicons. Comparisons of the several corpora were made in terms of their use in matching normal and retarded groups on experimental tasks in verbal learning.

scholarly journals Complementarity of Description and the Promise of Semiotics in Dealing with an Eluding Object

Biosemiotics ◽  
2021 ◽  
Author(s):  
Joanna Rączaszek-Leonardi
Keyword(s):  
Information Theory ◽  
General Character ◽  
Cognitive Systems ◽  
Central Claim ◽  
Made In

AbstractI emphasize the general character of the central claim made by Terrence Deacon about the necessity of complementary description of evolving cognitive systems. Next, I clarify and augment one of the claims made in the paper about the tools offered by information theory. Finally, I point to the need of further clarification of some central notions, which should help to make connections across discourses.

Time for a new zeitgeist in perinatal mental health

2017 ◽  
Vol 52 (2) ◽  
pp. 112-116 ◽  
Author(s):  
Fiona Judd ◽  
Louise Kathryn Newman ◽  
Angela A Komiti
Keyword(s):  
Mental Health ◽  
High Risk ◽  
Developmental Disorders ◽  
Perinatal Depression ◽  
Maternal Mental Health ◽  
Research Effort ◽  
Depression And Anxiety ◽  
Developmental Experiences ◽  
Severe Personality Disorder ◽  
Made In

Perinatal depression, and to a lesser extent anxiety, has been the focus of interest for perinatal psychiatrists for several decades. Policy and substantial funding has supported this. We argue that it is now time to change this focus and to invest greater funding to support clinical and research effort in ‘high-risk’ caregivers and their infants. We define high-risk caregivers as those who are likely to have attachment and relationship difficulties with their infant as a result of their own developmental experiences, personality difficulties and/or trauma-related mental disorders, often complicated by substance abuse, depression and anxiety. We propose that early intervention with such caregivers, focussing on both maternal mental health and on the needs of the infant for responsive and sensitive interaction and emotional care, would contribute to prevention of infant developmental disorders, with real gains to be made in breaking the transgenerational cycle of development of severe personality disorder.

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