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Virgin and Child painting by Andrea Mantegna (1431-1506) dated to around 1460 A.D. Image A depicts a woman holding a child with suspected Down syndrome-like facial characteristics (Ruhrah 1935; Cone 1964; Ward 2004). 

Virgin and Child painting by Andrea Mantegna (1431-1506) dated to around 1460 A.D. Image A depicts a woman holding a child with suspected Down syndrome-like facial characteristics (Ruhrah 1935; Cone 1964; Ward 2004). 

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Down syndrome was first medically described as a separate condition from other forms of cognitive impairment in 1866. Because it took so long for Down syndrome to be recognized as a clinical entity deserving its own status, several investigators have questioned whether or not Down syndrome was ever recognized before 1866. Few cases of ancient skele...

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... (Ward, 2004). Mirkinson (1968) challenged readers of the Lancet to search for historical depictions of Down syndrome in pre-modern material culture. Zellweger (1968) responded to Mirkinson’s challenge by pointing out a Jacob Jordaen (1593 -1678) painting titled The Adoration of the Shepherd ( Figure 3) that is dated to 1618 A.D. In this painting a woman is holding a child who may have Down syndrome. However, while upslanted palpebral fissures are readily apparent, other Down syndrome-like characteristics are lacking. Interestingly, Stratford (1996:9) claims that Jordaen and his wife Catherine van Noort had a daughter named Elizabeth 2 who had Down syndrome; however, evidence to validate this assertion is lacking . Zellweger (1968) also argues that Down syndrome may be depicted in another Jacob Jordaen painting titled Satyr with Peasants (listed as The Peasant and the Satyr by Zellweger). This painting (Figure 4) reportedly shows the same woman from The Adoration of the Shepherd about 20 years older holding another child who may have had Down syndrome (Zellweger, 1968). The child in this painting exhibits upslanted palpebral fissures and what may be a protruding tongue. Interestingly this painting is dated to about 20 years after the original painting, leading Zellweger (1968) to conjecture that these two paintings may depict the first Figure 4 : Satyr with Peasants painting by Jacob Jordaens (1593-1678) dated to between recorded instance of 1635-1640 A.D. Image A depicts a woman holding a child with suspected Down multiple cases of syndrome-like facial characteristics (Zellweger 1968). Image B is a close-up image of Down syndrome in this child’s facial features. a family, which rarely occurs even today. However, it is not entirely clear that the woman in each picture is the same women, and the child in both The Adoration of the Shepherd and Satyr and Peasants is not portrayed with many Down syndrome-like features. Overall, the qualitative evidence that Down syndrome may 3 be depicted in The Adoration of the Shepherd and Satyr with Peasants paintings is very weak . Kunze and Nippert (1986) published an image of an ecce-homo-scene painting believed to depict an individual with Down syndrome (Figure 5). This painting is dated to around 1505 A.D. and is attributed to the craftsman of the Aachen alter. The painting depicts a lateral view of a child’s face with oblique palpebral fissures, a depressed nasal bridge, an open mouth posture, a clefted chin, and the child appears to have a short and broad neck. Interestingly, a monkey is depicted grooming the child’s hair. Kunze and Nippert (1986) note that this child is portrayed with the characteristic facial dysmorphology associated with trisomy 21. Overall, the qualitative evidence that the child portrayed in this painting may have had Down syndrome is strong. 5: Ecce-homo-scene painting attributed to the craftsman of the Cone (1968) also responded to alter dated to around 1505 A.D. Image A depicts a child with Mirkinson’s challenge and directed Down syndrome-like facial characteristics being groomed by a attention to a previous publication in (Kunze and Nippert 1986). Image B is a close-up image of this facial features (Kunze and Nipert (1986:83). which he argued that the child in Andrea Mantegna’s (1431 -1506) painting titled Madonna and Child, which is thought to depict the baby Jesus, had Down syndrome (Cone 1964; Pueschel 2000). This painting shows a woman wearing a light-blue hooded robe and an orange tunic who is holding a child portrayed with Down syndrome-like facial features (Stratford 1996:8). Both the mother and child have a round shape around their heads. Cone noted (1964) that the child in this painting had suggestive features of Down syndrome including oblique eyes, possible epicanthic folds, a small nose, an open mouth, and an 4 adenoidal expression . Interestingly, Ruhrah (1935) argued that a child in another of Mantegna’s paintings titled Virgin and Child displays Down syndrome-like characteristics. This painting (figure 6) also portrays a woman holding a child with Down syndrome-like phenotypic features. The child in this painting exhibits oblique eyes, possible epicanthic folds, a small nose, an open mouth, an adenoidal expression, a prominent tongue, square hands, an incurving little finger, a ...

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... Biological findings indicate that individuals with DS provide a link between development and aging. This review will examine the neurological phenotype at different age epochs in DS [16]. ...
Article
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Down syndrome (DS) is a birth defect with significant medical and social costs that is caused by trisomy of all or part of chromosome 21. It is the most common genetic disease in the world and the most common genetic cause of intellectual disabilities, affecting approximately 1 in 400-1500 newborns. Despite the fact that the syndrome had been described thousands of years before, it was named after John Langdon Down, who described it clinically in 1866. Scientists have discovered candidate genes that play a role in the development of specific DS features. These advancements, in turn, may aid in the development of targeted therapy for people with trisomy 21. Screening for Down syndrome is an essential part of routine prenatal care. Until recently, noninvasive screening for aneuploidy relied on maternal serum analytes and ultrasonography. Recent advancements have resulted in the development of a noninvasive prenatal screening (NIPS) test that uses cell-free foetal DNA sequences isolated from a maternal blood sample. There is a discussion of those accomplishments.
... I contacted the museum, and Frederick, who had since been promoted to the Chair of the Art of Europe, agreed to the arrangements. (Starbuck, 2011). A collaboration between physicians and art historians will be essential to further assess these claims. ...
Article
Virgin and Child, a painting attributed to a follower of Andrea Mantegna completed around 1460, is currently in storage at the Museum of Fine Arts in Boston. With special supervised permission, I have visited the painting three times to assess whether this Christ child might have Down syndrome. My conclusion evolved each time—as did my appreciation for the synergy between physicians and art historians.
... 1.1.6), пам'ятка культури толтека (Мексика), створена близько 500 року н.е [436]. ...
... Як приклад зображень людей із син дро мом у живописі часто наводять картину Андреа Мантенья Рис. 1 [436]. ...
... Проте працівники музею образотворчих мистецтв Бостона (США), де зберігається ця картина, вважають, що схожість зображеної дитини з цією фізичною характе ристикою не пов'язана з трисомією. Припускають, що картину малював інший художник, який, намагаючись наслідувати стиль Мантенья, створив образ, що випадково має деякі фізичні характеристики цієї хромосомної аномалії [102,436]. ...
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The textbook focuses on one of the important problems of modern medical genetics and clinical dentistry – disorders of the dental and maxillofacial system, which are associated with hereditary diseases or syndromes. The accumulation and systematization of data on the prevalence of genetic diseases are becoming increasingly important in connection with the increasing contribution of hereditary pathology in morbidity and mortality. The study of the role of heredity in the pathology of the oral cavity is complicated by a number of specific difficulties: the variability of occlusion, toothlessness of the elderly and children, poor public awareness of the oral cavity of their relatives. Craniofacial anomalies, in particular morphological changes in the teeth, can be caused by disorders of the chromosomal apparatus (number of chromosomes, their aberrations), gene mutations, as well as the combined action of many genes and environmental factors. As the textbook uses the most common examples of genetic diseases, special attention is paid to the following pathologies. Chromosomal syndromes, which are accompanied by a change in the number of autosomes while maintaining their structure (Down syndrome), as well as sex X and Y chromosomes (Turner syndrome, Klinefelter syndrome). Everyone knows the classification depending on the gene mutation (autosomal dominant or recessive, linked to sex chromosomes, mitochondrial). It is the latter that we have described common genetic diseases: autosomal dominant (Marfan, Holt-Oram syndromes, Huntington’s chorea, neurofibromatosis type I); autosomal recessive (Gaucher, Wilson’s disease, cystic fibrosis, phenylketonuria): X-linked dominant (hypophosphatemic rickets): X-linked recessive (hemophilia A and B). Among the modern sources of the literature it was not possible to find a description of dental manifestations of mitochondrial pathology (Leber’s hereditary optic neuropathy). The next stage of material preparation was the choice of material presentation scheme. By analyzing the relevant literature, which mainly described dental diseases by nosological units and listed the hereditary diseases that cause them, we adopted a different sequence of data presentation. This was facilitated by the fact that hereditary diseases combine several dental manifestations. For example, late eruption of teeth is characteristic of Down and Turner syndromes, hypophosphatemic syndrome, Gaucher disease, Bite disorders occurs in Down syndrome, neurofibromatosis type I, Wilson’s disease; hypoplasia of enamel, teeth – with Turner syndrome, Down syndrome, neurofibromatosis type I; gingivitis – in Turner, Down and Klinefelter syndromes (chronic catarrhal); periodontitis – in Down and Marfan syndromes, Wilson’s disease (early), hypophosphatemic rickets (periodontal abscesses); caries – in cystic fibrosis, phenylketonuria, Wilson’s disease, hypophosphatemic rickets: bleeding – in Wilson’s disease (after tooth extraction) and Gaucher, hemophilia A; enamel defects – in Klinefelter’s syndrome, hypophosphatemic rickets (microcleavage of enamel). A far from complete list indicates that a large number of symptoms are combined in the same disease. For modern diagnosis, prevention and treatment requires the cooperation of a dentist with clinicians of various profiles, and in case of suspicion of genetic pathology, with geneticists. The study of genetic and epigenetic factors in the occurrence and development of dental disease has established the role of individual genes and lifestyle (bad habits, diet), compliance with hygienic rules of dental care. An important factor in writing the manual in the chosen sequence was the fact that according to the curricula in Ukraine, medical genetics is not taught in higher medical educational institutions for dentists.
... It is most often accompanied by one or more difficulties of organ systems and language disorders (Choi & Van Riper, 2019;Pranjić et al., 2016). Apart from intellectual disabilities, no organic disability is constantly present in all individuals with Down syndrome and cannot be said to be typical of them (Culić & Culić, 2008;Starbuck, 2011). Similarities in the physical appearance of people with Down syndrome have for a long time influenced the neglect of remarkable differences in their cognitive development and other psycho- However due to many positive aspects and views on the children with DS, inclusion is and will be a problem in society because of various factors. ...
Article
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This study sought to see the difference in attitudes between early childhood and preschool education teachers and students towards the inclusion of children with Down syndrome in kindergartens. The research included teachers from three kindergartens in the City of Split, as well as early childhood and preschool education students at the Faculty of Humanities and Social Sciences in Split. A questionnaire on the assessment of attitudes towards the inclusion of children with Down syndrome was used. The results are presented through thematic statements grouped by content as follows: personal attitude towards inclusion of children with Down syndrome; inclusion success; knowledge and training; kindergarten and inclusion; and attitudes towards parents of children with Down syndrome. The results showed that there was no statistically significant difference between teachers and students in terms of their attitudes towards inclusion. The results of teachers towards the partial integration of children with Down syndrome are significant. Based on the conducted research, it can be concluded there is a need for additional education in this field due to the lack of content, in formal and non-formal education of teachers, addressing the issue of the inclusion of children with Down syndrome and children with disabilities in general. It is necessary to follow the topic of inclusion in the context of kindergarten through a long-term research, using a more sensitive and comprehensive instrument, and a larger sample. If its sensitivity is increased, this instrument can be recommended to be used for all children with developmental disabilities, not just children with DS.
... Down syndrome (DS) is the most common cause of genetic intellectual disability (ID), and its worldwide incidence is estimated to be one in 700-1000 live births. Apart from the ID, trisomy 21 is associated with more than 80 clinical traits including congenital heart disease, Hirschsprung's disease, muscle hypotonia, immune system deficiencies, increased risk of childhood leukemia [1], early onset of Alzheimer's diseases [2], and higher risk for epilepsy [3][4][5]. ...
Article
Full-text available
Several methods have been used to study the neuropathogenesis of Down syndrome (DS), such as mouse aneuploidies, post mortem human brains, and in vitro cell culture of neural progenitor cells. More recently, induced pluripotent stem cell (iPSC) technology has offered new approaches in investigation, providing a valuable tool for studying specific cell types affected by DS, especially neurons and astrocytes. Here, we investigated the role of astrocytes in DS developmental disease and the impact of the astrocyte secretome in neuron mTOR signaling and synapse formation using iPSC derived from DS and wild-type (WT) subjects. We demonstrated for the first time that DS neurons derived from hiPSC recapitulate the hyperactivation of the Akt/mTOR axis observed in DS brains and that DS astrocytes may play a key role in this dysfunction. Our results bear out that 21 trisomy in astrocytes contributes to neuronal abnormalities in addition to cell autonomous dysfunctions caused by 21 trisomy in neurons. Further research in this direction will likely yield additional insights, thereby improving our understanding of DS and potentially facilitating the development of new therapeutic approaches.
... In addition, fertility in Down syndrome patients is low and even in 1912 AD the average life expectancy of people with Down Syndrome was only about 12 years of age (Malt et al. 2013, Roizen et al. 2010. Furthermore, while Down's syndrome in the Old World has been shown to be ancient (Czarnetzki et al. 2003), as far as Ancient Egypt is concerned, the sole suggestion as to its presence comes from a 100AD (Roman period) terracotta figurine (Starbuck 2011). We also exclude any conditions involving increased intracranial pressure (McCulley et al. 2015) as the cranium would most likely have enlarged in all dimensions (McCulley et al. 2015), while the skull of Meresankh III only expanded in width while the length and height remained in a normal range. ...
Article
The silent sinus syndrome is characterized by painless enophthalmia and hypotropia caused by chronic atelectasis of the maxillary sinus with onset in adulthood, typically between the third and the fifth decade of life. It is increasingly diagnosed as a result of today's widespread use of computed tomography (CT). The phenomenon was originally described in 1964 (Montgomery, 1964), while the term "silent sinus syndrome" was later introduced by Soparkar and colleagues in 1994. The pathogenic mechanism appears to involve chronic maxillary sinus obstruction with hypoventilation as well as the development of negative pressure within the sinus. While studying literature on crania of Egyptian royal families, photographs of the skull of Queen Meresankh III caught our attention because of the unusually shaped orbits, skull vault and suborbital areas. A retrospective craniometric analysis clearly suggests a pathological condition. In this multimodal, interdisciplinary study we reassessed the excavation report of Queen Meresankh III's mastaba tomb in Giza (Egypt) as well as a publication in the anatomical record (Dunham and Simpson, 1974). Precise craniometric measurements were obtained by application of a three-dimensional (3D) image reconstruction method, which was compared to reference data from two different databases. A differential diagnosis was established in consensus by the authors with regard to the found pathologic craniometric measurements as well as to the biographic information available from the historical sources. Queen Meresankh III was an Ancient Egyptian queen of the 4th Dynasty (Old Kingdom, lifespan c. 2620/10-2570 BC). Her lifespan is reconstructed from the death date mentioned in her tomb. According to our measurements, her cranium shows unusual features and measurements outside the normal range. The maxillary sinuses are bilaterally reduced and the zygomatic arch is altered with a diminished lateral extent. The width of the skull pathologically increased, while the cranial capacity is in a normal range. The orbit widths compare well with existing data, while orbit heights exceed ranges of normal women by more than 2 standard deviations. On account of the presented evidence, a retrospective diagnosis of Silent Sinus Syndrome for Queen Meresankh III may be reasonably postulated, making it the world's oldest case of the Silent Sinus Syndrome. Other considered differential diagnoses could be either ruled out based on craniometric measurements or biographic information. The impossibility to carry out further analyses on the queen's mortal remains at present, however, suggests caution in definitive interpretations. Should additional tests one day be possible to carry out, a more refined diagnostics could be achieved. © 2018 Moravian Museum, Anthropos Institute, Brno. All rights reserved.
... In addition, fertility in Down syndrome patients is low and even in 1912 AD the average life expectancy of people with Down Syndrome was only about 12 years of age (Malt et al. 2013, Roizen et al. 2010. Furthermore, while Down's syndrome in the Old World has been shown to be ancient (Czarnetzki et al. 2003), as far as Ancient Egypt is concerned, the sole suggestion as to its presence comes from a 100AD (Roman period) terracotta figurine (Starbuck 2011). We also exclude any conditions involving increased intracranial pressure (McCulley et al. 2015) as the cranium would most likely have enlarged in all dimensions (McCulley et al. 2015), while the skull of Meresankh III only expanded in width while the length and height remained in a normal range. ...
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The silent sinus syndrome is characterized by painless enophthalmia and hypotropia caused by chronic atelectasis of the maxillary sinus with onset in adulthood, typically between the third and the fifth decade of life. https://www.jstor.org/stable/26476305 http://puvodni.mzm.cz/Anthropologie/article.php?ID=2227 https://doi.org/10.26720/anthro.17.09.25.2
... In addition, fertility in Down syndrome patients is low and even in 1912 AD the average life expectancy of people with Down Syndrome was only about 12 years of age (Malt et al. 2013, Roizen et al. 2010. Furthermore, while Down's syndrome in the Old World has been shown to be ancient (Czarnetzki et al. 2003), as far as Ancient Egypt is concerned, the sole suggestion as to its presence comes from a 100AD (Roman period) terracotta figurine (Starbuck 2011). We also exclude any conditions involving increased intracranial pressure (McCulley et al. 2015) as the cranium would most likely have enlarged in all dimensions (McCulley et al. 2015), while the skull of Meresankh III only expanded in width while the length and height remained in a normal range. ...
... Boy with a Puppet, Giovanni Francesca Carota, ( 1480 -1555),Castelvecchio Museum British pediatrician, Harry Angelman, who first described the syndrome in 1965. [1] An older, alternative term for AS, "happy puppet syndrome", is generally considered pejorative and stigmatizing so it is no longer the accepted term. People with AS are sometimes referred to as "angels", both because of the syndrome's name and because of their youthful, happy appearance. ...
Conference Paper
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Art imitates life since the beginnings of the human civilization. It follows that art is best expressed, not by making something new, but by telling the old in a new way. Illnesses and sufferings are parts of life, so they are daily reflected in our life, which in turn is reflected in art. From prehistoric art, to roman art, greek, gothic, renaissance or classicism, we observe that artists (be it painters or sculptors) deal more with the representation of the fertility, obesity, mental illness, dwarfs or hypothyroid characters, people with goiter, with Down’s syndrome, Cushing disease and other specific aspects of the endocrine pathology. Artists have always been fine observers of what scientists studied and defined much later. Fear, depression, anger, suicide, pain, infertility, our relations with the disabled are obsessively subjects present in XX and XXI centuries art: expressionism, avant-garde and contemporary movements. In my presentation I will tackle a few aspects of the reflections of some psychoneuroendocrinological disorders in visual art throughout history.
... php&id=170&lang=eng). Some early historic human skeletal remains manifest attributes of Down syndrome (18,19). Frequencies may have varied earlier because some syndromes are influenced by maternal age. ...