Bibliografías temáticas / Genetic disorders in children

Literatura académica sobre el tema "Genetic disorders in children"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 29 de julio de 2024

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Artículos de revistas sobre el tema "Genetic disorders in children"

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Ćirić, Sanela. "DIFFERENCES IN PARENTS' ATTITUDES TOWARDS THE CAUSES OF NEURODEVELOPMENTAL DISORDERS". Multidisciplinarni Pristupi u Edukaciji i Rehabilitaciji 6, n.º 7 (15 de agosto de 2024): 161–70. http://dx.doi.org/10.59519/mper6115.

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Neurodevelopmental disorders are a heterogeneous group of clinical conditions characterized by deficits in one or more aspects of development, with the most prevalent subgroups being autism spectrum disorders and intellectual developmental disorders. Longitudinal studies have shown a significant increase in the number of children with autism spectrum disorders over the past few decades compared to the stable prevalence of intellectual developmental disorders. The aim of this study was to examine and compare the attitudes of parents of children with autism spectrum disorders and parents of children with intellectual developmental disorders regarding genetics, vaccination, and stress as causes of these disorders. The sample consisted of 80 parents, with 40 parents of children with intellectual developmental disorders and 40 parents of children with autism spectrum disorders. The study used a survey as the instrument, employing content analysis, interviewing, and scaling techniques. Data were statistically analyzed using quantitative methods in the JASP program. The results showed that parents' attitudes towards genetics as a cause did not statistically differ, with the most of parents not considering genetics as a cause of neurodevelopmental disorders (40%). There was a notable difference between these two subgroups of neurodevelopmental disorders in the number of children who had undergone genetic testing. A third of the participants expressed a negative attitude towards genetic testing in the future. A statistically significant difference was confirmed in attitudes towards vaccination as a cause of disorders. While most parents did not believe that stress caused their child's disorder, a higher number of parents with children who have intellectual developmental disorders cited stress as a contributing factor. Well-informed parents about the origins of neurodevelopmental disorders influence the lives of entire families, reducing the risk of unnecessary exposure of children to various interventions and treatments.
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Fisch, Gene S., Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J. A. Holden, Jack Tarleton, Richard Simensen y Agatino Battaglia. "Developmental Trajectories in Syndromes With Intellectual Disability, With a Focus on Wolf-Hirschhorn and Its Cognitive–Behavioral Profile". American Journal on Intellectual and Developmental Disabilities 117, n.º 2 (1 de febrero de 2012): 167–79. http://dx.doi.org/10.1352/1944-7558-117.2.167.

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Abstract Few studies exist of developmental trajectories in children with intellectual disability, and none for those with subtelomeric deletions. We compared developmental trajectories of children with Wolf-Hirschhorn syndrome to other genetic disorders. We recruited 106 children diagnosed with fragile X, Williams-Beuren syndrome, or Wolf-Hirschhorn syndrome, assessing their intellectual and adaptive behavior abilities. We retested 61 children 2 years later. We compared Time 1 and Time 2 difference scores related to genetic disorder, age, initial IQ, or adaptive behavior composite. Results show genetic disorder and initial IQ score were significant factors for IQ differences, but only genetic disorder affected adaptive behavior differences. Results suggest different gene-brain-behavior pathways likely exist for these genetic disorders. Different developmental trajectories will influence the type and intensity of intervention implemented by caregivers.
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Lashwood, Alison. "Preimplantation genetic diagnosis to prevent genetic disorders in children". British Journal of Nursing 14, n.º 2 (enero de 2005): 64–70. http://dx.doi.org/10.12968/bjon.2005.14.2.17433.

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Barrie, Alpha-Umaru. "Youth perspectives on genetic inheritance, carrier status and disclosure". Journal of Haemophilia Practice 3, n.º 2 (1 de julio de 2016): 21–28. http://dx.doi.org/10.17225/jhp00077.

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Abstract Knowledge about genetic inheritance as a concept in children and young people with bleeding disorders is synonymous, in many ways, with other inherited genetic conditions. Children and young people have a more physiological understanding of inheritance, but may hold mistaken and inaccurate beliefs in understanding basic genetics. There are complex ethical and social problems in the genetic testing of youngsters with bleeding disorders to establish carrier status. Current guideline recommendations indicate circumstances where clear psychosocial and medical benefits can be demonstrated. However, children and young people have a reduced capacity to understand the tests and their implications, and in many cases family communication may impact the extent of disclosure of genetic risk factors. This paper explores the genetics of inherited bleeding disorders, including basic knowledge of the concept of inheritance and reproductive risks. Carrier status in children and young people will be considered, drawing on legal rulings that may shed light on best practice in establishing carrier status based on genetic testing. Communication patterns within families around inherited bleeding disorders and the complicated process of disclosure will also be discussed.
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Rudin, I. V. "SPEECH DISORDERS OF GENETIC ORIGIN IN TEACHING PRACTICE". Education & Pedagogy Journal, n.º 1(1) (6 de julio de 2021): 56–63. http://dx.doi.org/10.23951/2782-2575-2021-1-56-63.

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In recent years, there has been a significant increase in children with various speech disorders. Also, identifying the factors causing these disorders early and providing proper support is increasingly important. If the steps to correct such speech disorders are not taken quickly, secondary issues, such as communication, socialization, and educational problems, are observed. Training and corrective measures should be carried out while considering both the individual’s psychological and physiological characteristics. Identifying the cause and symptoms of a speech disorder plays an important role when developing a plan for a child’s education, upbringing, and development. These measures are crucial to providing the most suitable help to children with such disorders. The signs identified during diagnosis and those revealing the causes of the speech disorders are vital for outlining a pathogenetic description of the disorder and prescribing a set of corrective measures. Speech disorders indicate the intactness of a large part of the central nervous system, including motor and sensory areas. Moreover, they have diagnostic applications in cases of organic brain damage, malfunctions in the development of the nervous system, and mental retardation of various origins. The pedagogical process must include a full examination, as well as the proper combined support by speech disorder specialists. It is possible to carry out differential diagnoses of speech function disorders using the results of genetic studies and prepare correctional programs tailored to the identified disorders.
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Mueller, Sven C., Pamela Ng, Ninet Sinaii, Ellen W. Leschek, Liza Green-Golan, Carol VanRyzin, Monique Ernst y Deborah P. Merke. "Psychiatric characterization of children with genetic causes of hyperandrogenism". European Journal of Endocrinology 163, n.º 5 (noviembre de 2010): 801–10. http://dx.doi.org/10.1530/eje-10-0693.

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ObjectiveVery little is known about the mental health status in children with genetic causes of hyperandrogenism. This study sought to characterize psychiatric morbidity in this group.Design/methodsChildren (8–18 years) with the diagnosis of classic congenital adrenal hyperplasia (CAH) or familial male precocious puberty (FMPP) underwent a semi-structured psychiatric interview, the Kiddie Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version. According to sex and the literature, incidence of identified psychopathology was compared between the two endocrinological groups. We evaluated 72 patients: 54 CAH (21 females) and 18 FMPP.ResultsTwenty-four (44.4%) CAH patients and 10 (55.6%) FMPP patients met the criteria for at least one lifetime psychiatric diagnosis. Attention-deficit hyperactivity disorder (ADHD) was present in 18.2% of CAH males, 44.4% of FMPP males, and one case (4.8%) in CAH females. A high rate of anxiety disorders was also found in all the three groups (17–21%). Relative to females with CAH, the FMPP patients exhibited higher rates of ADHD. Age at diagnosis and the treatment modalities were not associated with psychopathology. Rates of psychiatric disorder, specifically ADHD and anxiety disorders, were higher than in the general population.ConclusionAlthough anxiety disorders may occur at an increased rate in children with chronic illness, androgens may contribute to higher risk for psychopathology in pediatric patients with genetic cause of excess androgen. Early diagnosis and treatment of childhood hyperandrogenism is essential for optimal development. The results suggest that assessment for psychiatric disorders should be part of the routine evaluation of these patients.
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Zhestkova, M. A. y D. Yu Ovsyannikov. "GENETIC DISORDERS OF SURFACTANT PROTEINS". Pediatria. Journal named after G.N. Speransky 100, n.º 5 (11 de octubre de 2021): 82–89. http://dx.doi.org/10.24110/0031-403x-2021-100-5-82-89.

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The literature review provides up-to-date information on rare interstitial lung diseases, manifesting both in children, starting from the neonatal period, and in adults, – genetic disorders of surfactant proteins B, C, ATP-binding cassette protein A3 (ABCA3), manifested by such histopathological patterns, as chronic pneumonitis of infants, pulmonary alveolar proteinosis, desquamative interstitial pneumonia , nonspecific interstitial pneumonia. Information on epidemiology, genetics, pathogenesis, clinical picture, diagnosis and differential diagnosis, treatment of these diseases is given.
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You, Haizhen, Junyao Shi, Fangfang Huang, Zhiyun Wei, Gary Jones, Wenchong Du y Jing Hua. "Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children". Brain Sciences 13, n.º 6 (11 de junio de 2023): 940. http://dx.doi.org/10.3390/brainsci13060940.

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Developmental coordination disorder (DCD) is a developmental disorder characterized by impaired motor coordination, often co-occurring with attention deficit disorder, autism spectrum disorders, and other psychological and behavioural conditions. The aetiology of DCD is believed to involve brain changes and environmental factors, with genetics also playing a role in its pathogenesis. Recent research has identified several candidate genes and genetic factors associated with motor impairment, including deletions, copy number variations, single nucleotide polymorphisms, and epigenetic modifications. This review provides an overview of the current knowledge in genetic research on DCD, highlighting the importance of continued research into the underlying genetic mechanisms. While evidence suggests a genetic contribution to DCD, the evidence is still in its early stages, and much of the current evidence is based on studies of co-occurring conditions. Further research to better understand the genetic basis of DCD could have important implications for diagnosis, treatment, and our understanding of the condition’s aetiology.
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Pletcher, Beth A. y Nelson L. Turcios. "Pulmonary Manifestations of Genetic Disorders in Children". Pediatric Clinics of North America 68, n.º 1 (febrero de 2021): 1–24. http://dx.doi.org/10.1016/j.pcl.2020.09.010.

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Clauss, Sarah B. y Peter O. Kwiterovich. "Genetic disorders of lipoprotein transport in children". Progress in Pediatric Cardiology 17, n.º 2 (septiembre de 2003): 123–33. http://dx.doi.org/10.1016/s1058-9813(03)00049-3.

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Tesis sobre el tema "Genetic disorders in children"

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Robinson, Sally Jane. "Semantic knowledge representation and access in children with genetic disorders". Thesis, University of Essex, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.435580.

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Bava, Sunita. "Reduced microstructural white matter integrity in a genetic metabolic disorder a diffusion tensor MRI study /". Connect to a 24 p. preview or request complete full text in PDF format. Access restricted to UC campuses, 2007. http://wwwlib.umi.com/cr/ucsd/fullcit?p3274808.

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Thesis (Ph. D.)--University of California, San Diego and San Diego State University, 2007.
Title from first page of PDF file (viewed January 8, 2008). Available via ProQuest Digital Dissertations. Vita. Includes bibliographical references (p. 75-84).
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Glass, Jennifer Elaine. "CURRENT PRACTICES OF PEDIATRICIANS REGARDING SCREENING FOR METABOLIC DISORDERS AMONG INTERNATIONALLY ADOPTED CHILDREN". Case Western Reserve University School of Graduate Studies / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=case1244084138.

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Ichikawa, Shoji. "The molecular genetic analysis of three human neurological disorders". free online free to MU campus, others may purchase, 2002. http://wwwlib.umi.com/cr/mo/preview?3074409.

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Winslow, Hayley R. "Pre- and Post-Test Parent Perceptions of Genetic Testing for Children with Autism Spectrum Disorder (ASD)". The Ohio State University, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=osu1492505122437373.

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Komulainen-Ebrahim, J. (Jonna). "Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders". Doctoral thesis, Oulun yliopisto, 2019. http://urn.fi/urn:isbn:9789526222356.

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Abstract Novel genetic aetiologies for epileptic encephalopathies and movement disorders have been discovered by using next-generation sequencing methods. The phenotypic and genotypic variability in these conditions is very wide. The aim of this study was to discover novel genetic causes and phenotypes of childhood-onset drug-resistant epilepsy and epileptic or developmental encephalopathies that occur separately or together with movement disorders, and familial movement disorders. Furthermore, the use of whole-exome sequencing (WES) as a diagnostic tool in clinical practice was evaluated. Altogether, 12 children with undefined aetiology, who fulfilled the inclusion criteria, were included in the study. GABRG2 gene was identified as a genetic cause of epileptic encephalopathies. Novel GABRG2-associated phenotypes included progressive neurodegeneration, epilepsy in infancy with migrating focal seizures, and autism spectrum disorder. New pathogenic variants, GABRG2 p.P282T and p.S306F, were discovered. The pathogenic NACC1 variant caused focal epilepsy, developmental disability, bilateral cataracts, and dysautonomia. The novel phenotype associated with the NACC1 p.R298W variant included hyperkinetic movement disorder. SAMD9L was found to be the genetic cause for the familial movement disorder. The phenotype associated with the novel SAMD9L p.I891T variant was very variable. Neuroradiological findings included cerebellar atrophy and periventricular white matter changes. After publication of these results, SAMD9L was reported to be one of the most common genetic aetiologies of childhood bone marrow failure and myelodysplastic syndrome. The pathogenic homozygous MTR variant was found to cause early-onset epileptic encephalopathy that occurred together with movement disorder and haematological disturbances. Drug resistant seizures responded to cofactor and vitamin treatments. Whole-exome sequencing for 10 patients with drug-resistant epilepsy or epileptic or developmental encephalopathy provided a genetic diagnosis for two patients (20%). This study confirmed that, for epileptic encephalopathies and movement disorders in which the genetic causes and phenotypes are heterogeneous and sometimes treatable, WES is a useful tool for diagnostics and in the search for novel aetiologies, which might turn out to be more common than expected
Tiivistelmä Uusien sekvensointimenetelmien käyttöönotto on mahdollistanut epileptisten enkefalopatioiden ja liikehäiriöiden uusien geneettisten syiden löytymisen. Näissä sairausryhmissä geenien ja ilmiasujen vaihtelevuus on suurta. Tutkimuksen tarkoituksena oli löytää uusia geneettisiä syitä ja ilmiasuja lapsuusiällä alkavissa vaikeahoitoisissa epilepsioissa ja epileptisissä tai kehityksellisissä joko itsenäisesti tai yhdessä liikehäiriön kanssa esiintyvissä enkefalopatioissa sekä perheittäin esiintyvissä liikehäiriöissä. Lisäksi selvitettiin eksomisekvensoinnin käyttökelpoisuutta kliinisessä diagnostiikassa näiden potilasryhmien kohdalla. Tutkimukseen osallistui yhteensä 12 sisäänottokriteerit täyttävää lasta, joiden sairauden syy oli jäänyt tuntemattomaksi. GABRG2-geenin mutaatiot aiheuttivat epileptisiä enkefalopatioita, joiden uutena ilmiasuna oli etenevä taudinkuva, johon liittyivät aivojen rappeutuminen, migroiva imeväisiän paikallisalkuinen epilepsia sekä autismikirjon häiriö. Tutkimuksessa löydettiin uusia GABRG2-mutaatioita: p.P282T ja p.S306F. NACC1-geenin mutaatio aiheutti epilepsian, kehitysvammaisuuden, molemminpuolisen kaihin ja autonomisen hermoston toiminnan häiriön. Hyperkineettinen liikehäiriö oli uusi NACC1 p.R298W -mutaatioon liittyvä ilmiasu. SAMD9L-geenin mutaatio aiheutti perheessä esiintyvän liikehäiriön. Neurologinen ja hematologinen ilmiasu olivat hyvin vaihtelevia. Aivojen kuvantamislöydöksiin sisältyi pikkuaivojen rappeutumista ja valkoisen aivoaineen muutoksia aivokammioiden ympärillä. Näiden tutkimustulosten julkaisemisen jälkeen SAMD9L-geenin mutaatioiden on todettu olevan yksi yleisimmistä perinnöllisistä luuytimen vajaatoiminnan ja myelodysplasian syistä. Homotsygoottinen MTR-geenin mutaatio aiheutti varhain alkaneen epileptisen enkefalopatian, liikehäiriön ja hematologisen häiriön. Kofaktori- ja vitamiini hoidot vähensivät epileptisiä kohtauksia, joihin tavanomainen lääkitys ei tehonnut. Geneettiset syyt ja ilmiasut ovat epileptisissä enkefalopatioissa ja liikehäiriöissä hyvin vaihtelevia, ja osaan on olemassa spesifi hoito. Eksomisekvensointi on käyttökelpoinen diagnostiikan ja uusien geneettisten syiden etsimisen apuna. Tässä tutkimuksessa eksomisekvensoinnin avulla kymmenestä potilaasta kahdelle (20%) saatiin varmistettua geneettinen diagnoosi
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Gaonkar, Shraddha. "Challenges in counseling for rare chromosome conditions genetic counselors' perspective /". Waltham, Mass. : Brandeis University, 2009. http://dcoll.brandeis.edu/handle/10192/23239.

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Carlisle, Kathleen Walker. "School Factors Related to the Social and Behavioral Success of Children and Adolescents with Tuberous Sclerosis: Special Education Placement, Services, and Parental Involvement". [Tampa, Fla.] : University of South Florida, 2003. http://purl.fcla.edu/fcla/etd/SFE0000154.

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Kovac, Ilija. "Genetic epidemiology and phenotypic resolution of complex traits : studies in specific language impairment and alcoholism". Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=36974.

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Rationale. Definition of complex behavioral disorders is generally phenomenological in nature and guided by pragmatic, rather than genetic, concerns. Consequently, important aspect of genetic analysis is the search for novel phenotypic definitions from the familial/genetic perspective. SLI study 1. SLI denotes an inability to acquire normal language in the absence of peripheral hearing impairment, neurological disorder, and mental retardation. Sibling resemblance for several theoretically derived specific components of the SLI phenotype was examined in families of SLI children. In 38 sib-pairs from 10 French-speaking pedigrees, Verb Tense Morphology sub-tests (Real and Non-real Words) showed nonparametric correlations of 0.39 and 0.35, respectively (p < 0.05, 2-tailed). In a densely affected Anglophone pedigree, 41 sib-pair showed familial resemblance with respect to Derivational Morphology (r = 0.52, p < 0.01). SLI study 2. Family history study in 27 families examined the relationship between attention deficit/hyperactivity in SLI children and familial risk of speech/language disorders. Higher odds of speech/language disorders were observed in first-degree relatives of 13 SLI children who also had a medical record of attention deficit/hyperactivity (15/27 vs. 4/46, p = 0.001). Alcoholism study 1. Latent class analysis (LCA) including gender and 15 antisocial behaviors (>15yr) was performed in 236 broadly ascertained alcohol-dependent subjects (121 males, 115 females). Evidence for 3 qualitative behavioral classes was obtained: Socially Adjusted Adults, SAA; Antisocial Non-Aggressive Adults, ANAA; and Antisocial Aggressive Adults, AAA. In both, genders, the AAA class had the earliest age of onset for alcohol dependence (p = 0.001), more alcoholic first-degree relatives and more of other psychopathology. In females, the ANAA class was intermediate. In the ANAA males, socially adjusted childhood behavior differentiated the late onset from the intermediate ons
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Holt, Erika Tyne. "Perceptions of Severity of Children's Bleeding Disorders: Impact on Parental Quality of Life and Reproductive Decisions". Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1383060340.

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Libros sobre el tema "Genetic disorders in children"

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Manes, Singer Sandra y Pauls David L, eds. The heredity of behavior disorders in adults and children. New York: Plenum Medical Book Co., 1986.

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Baker-Gomez, Sherry. Missing genetic pieces: Strategies for living with VCFS, the chromosome 22q11 deletion. Phoenix, Ariz: Desert Pearl Pub., 2004.

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J, Epstein Charles, Erickson Robert P. 1939- y Wynshaw-Boris Anthony Joseph, eds. Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. Oxford: Oxford University Press, 2004.

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Lipsanen-Nyman, Marita. Mulibrey-nanismi. Helsinki: Helsingin yliopistollisen keskussairaalan ja Helsingin yliopiston I lastentautien klinikka, 1986.

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J, Epstein Charles, Erickson Robert P. 1939- y Wynshaw-Boris Anthony Joseph, eds. Inborn errors of development: The molecular basis of clinical disorders of morphogenesis. 2a ed. Oxford: Oxford University Press, 2008.

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Gilbert, Patricia. The A-Z reference book of syndromes and inherited disorders. 2a ed. San Disgo, Calif: Singular Pub. Group, 1996.

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Blum, Laurie. Laurie Blum's Free money for childhood behavioral and genetic disorders. New York: Simon & Schuster, 1992.

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K, Lloyd June y Scriver Charles R, eds. Genetic and metabolic disease in pediatrics. London: Butterworths, 1985.

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C, McCabe Paul, Shaw Steven R y National Association of School Psychologists., eds. Genetic and acquired disorders: Current topics and interventions for educators. Thousand Oaks, Calif: Corwin Press, 2010.

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Oliver, Quarrell, ed. Juvenile Huntington's disease: (and other trinucleotide repeat disorders). Oxford: Oxford University Press, 2009.

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Capítulos de libros sobre el tema "Genetic disorders in children"

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Nicoll, Neil. "Genetic and chromosomal disorders". En Assessment and Diagnosis of Neurodevelopmental Disorders in Young Children, 32–39. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003169925-3.

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Mitchell, Jonathan A. y Christopher M. Cielo. "Genetic Studies of Sleep in Children". En Genetics of Sleep and Sleep Disorders, 437–57. Cham: Springer International Publishing, 2024. http://dx.doi.org/10.1007/978-3-031-62723-1_17.

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Nicoll, Neil. "Selected genetic and chromosomal disorders". En Assessment and Diagnosis of Neurodevelopmental Disorders in Young Children, 40–55. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003169925-4.

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Witt, H. "Gene Mutations in Children with Chronic Pancreatitis". En Genetic Disorders of the Exocrine Pancreas, 23–29. Basel: KARGER, 2002. http://dx.doi.org/10.1159/000070339.

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Lai-Cheong, Joey E. y Amy S. Paller. "Current and Novel Approaches for Genetic Skin Disorders". En Severe Skin Diseases in Children, 189–202. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013. http://dx.doi.org/10.1007/978-3-642-39532-1_11.

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Depositario-Cabacar, Dewi Frances T., William McClintock y Tom Reehal. "Common Genetic and Neurocutaneous Disorders in Childhood Epilepsy". En Epilepsy in Children and Adolescents, 59–72. Chichester, UK: John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781119998600.ch4.

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Bonduelle, Maryse, Ayse Aytoz, Ann Wilikens, Andrea Buysse, Elvire Van Assche, Paul Devroey, Andre Van Steirteghem y Inge Liebaers. "Genetic Problems and Congenital Malformations in 1987 ICSI Children". En Male Sterility and Motility Disorders, 282–97. New York, NY: Springer New York, 1999. http://dx.doi.org/10.1007/978-1-4612-1522-6_26.

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Pf�ffle, R. "Diagnosis of Endocrine Disorders with Molecular Genetic Methods". En Diagnostics of Endocrine Function in Children and Adolescents, 30–50. Basel: KARGER, 2003. http://dx.doi.org/10.1159/000073543.

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McDuffie, Andrea, Angela John Thurman, Marie Moore Channell y Leonard Abbeduto. "Language Disorders in Children with Intellectual Disability of Genetic Origin". En Handbook of Child Language Disorders, 52–81. New York, NY : Routledge, 2017.: Psychology Press, 2017. http://dx.doi.org/10.4324/9781315283531-2.

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Russell, Jo. "Genesis of a dissociative child". En Treating Children with Dissociative Disorders, 139–54. London: Routledge, 2021. http://dx.doi.org/10.4324/9781003246541-10.

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Actas de conferencias sobre el tema "Genetic disorders in children"

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Nayır Büyükşahin, H., N. Emiralioglu, P. O. Simsek Kiper, B. Sunman, I. Güzelkaş, D. Alboğa, M. Akgül Erdal et al. "Evaluation of polysomnography findings in children with genetic skeletal disorders". En ERS International Congress 2022 abstracts. European Respiratory Society, 2022. http://dx.doi.org/10.1183/13993003.congress-2022.526.

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PONOMARI, Dorina. "Speech therapy assistance in the context of genetic disorders". En Ştiință și educație: noi abordări și perspective. "Ion Creanga" State Pedagogical University, 2023. http://dx.doi.org/10.46727/c.v1.24-25-03-2023.p179-184.

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Language presents a complex psychic process and many negative factors can affect it in its evolutionary path. These factors can be external psychosocial but also internal. Genetic disorders can mark to a greater or lesser extent the phenotype of the child with impact on the central nervous system and the speech apparatus. Children with some genetic conditions have difficulties in language development and often need speech therapy assistance, however early speech therapy intervention given at an early age will improve language development.
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Voinova, V. Y., M. A. M.A., O. S. Grosnova y S. V. Bochenkov. "Syndromic Forms of Children’s Mental Development Disorders". En Proceedings of III Research-to-Practice Conference with International Participation “The Value of Everyone. The Life of a Person with Mental Disorder: Support, Life Arrangements, Social Integration”. Terevinf, 2023. http://dx.doi.org/10.61157/978-5-4212-0676-7-2023-68-72.

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The molecular genetic basis of autism spectrum disorders (ASD) was analyzed in a cohort of more than 4,000 Russian patients with hereditary diseases. 88 children in the examined cohort had genetic variants, probably pathogenic or pathogenic, in genes associated with the development of ASD. Whole genome sequencing revealed 114 different molecular events that could be the cause of their disease. 60% of molecular events are annotated as variants of unclear clinical significance. The greatest number of variants was found in the CHD8 gene. Pathogenic variants in this gene are considered one of the most common causes of ASD. A functional analysis is required to reclassify the identified variants. The refined data can be used in medical genetic counseling, predicting the course of the disease and developing an individual rehabilitation program
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Brew, Bronwyn, Tong Gong, Cecilia Lundholm, Henrik Larsson y Catarina Almqvist. "Is there a genetic association between atopic disease and internalizing disorders in children?" En ERS International Congress 2017 abstracts. European Respiratory Society, 2017. http://dx.doi.org/10.1183/1393003.congress-2017.oa503.

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García-Vélez, Roberto, Luis Serpa-Andrade y Graciela Serpa-Andrade. "Information and Communication Technologies Learning Methodologies for Children with ADHD". En 13th International Conference on Applied Human Factors and Ergonomics (AHFE 2022). AHFE International, 2022. http://dx.doi.org/10.54941/ahfe1001889.

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ADHD is a disorder due to attention deficit, impulsiveness and hyperactivity due to various functional disputes, these anatomical brain inconsistencies can be genetic and/or environmental that hinders the child's lifestyle and their environment. Within the educational field, teachers cannot distinguish the attitude of a child with ADHD from one without disorders, especially in the preschool stage, which motivates the search for teaching alternatives, among them we have information and communication technologies - ICT, which allow evaluating, diagnosing, enriching and strengthening the learning of children with or without ADHD through educational software on a mobile phone, a computer and/or digital whiteboard; increasing attention, concentration, creativity, security, decreasing aggressiveness, gradually developing positive behaviors, their self-esteem improves, they feel motivated and progressively create solutions to their internal conflicts in such a way that their community learning guarantees the development of new social skills such as respect, solidarity, empathy and identifies the emotions of other people allowing a positive incorporation into their daily lives, especially in the school environment.
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Guerrero Granda, Steven, Luis Serpa-Andrade y Luis Guerrero. "Playful strategies to enhance teaching-learning and the inclusion of children with Down syndrome". En 8th International Conference on Human Interaction and Emerging Technologies. AHFE International, 2022. http://dx.doi.org/10.54941/ahfe1002804.

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Down Syndrome is a genetic disorder characterized by the appearance of an extra chromosome in the human genome, discovered in 1866. This is one of the few genetic disorders where there are other chromosomes that are compatible with life. In Ecuador, Down syndrome occurs in 1 in 550 live births, an average much higher than the world rate of 1 in 700. The phenotypic characteristics that can occur in DS, there are 12 to 14 characteristics, but in each individual, it is presented between 6 to 8 the common ones are epicanthus, rounded head, short stature, coated and protruding tongue, wide and shorthands, psychomotor and mental-physical development is delayed, people with DS have a shorter average life than normal approximately 50 years, a large part of mortality is due to respiratory diseases, and cardiac malformation, the incidence of leukemia 20 times higher than the normal population. A systematic review is generated in the main repositories that cover the subject, using the PRISMA methodology to answer questions such as: What are the playful strategies used by children with Down Syndrome, What changes are generated by the use of technologies in people with DS, What aspects are should be considered for the correct motor stimulation of children with DS to contribute to motor development in an effective way.
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Nakano, Bruno Eiji, Gabriel Flamarin Cavasana, Paula Carolina Grande Nakazato, Alana Strucker Barbosa, Isabela Badan Fernandes, Eduardo Silveira Marques Branco, Sarah de Souza Chinelato et al. "Huntington Disease-Like 2: a case report". En XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.494.

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Case presentation: Male, 56-year-old, previously epileptic started with involuntary movements in the right hand at 47 years old evolving to torso, incoordination, behavioral and cognition disturbs. Paternal grandmother, father and cousin with similar symptoms, in addition to four asymptomatic children. From the onset of symptoms, it progressively worsened presenting involuntary movements, hallucinations, aggressiveness and neck drop. During the neurological examination had frequent cervical falls, tremors at rest in the limbs, and mood swings. Cranial magnetic resonance imaging (MRI) was with atrophy of the caudate nucleus and putamen. Genetic test for Huntington’s Disease without evidence of characteristic expansion of the disease and Huntington Like 2 Test (Junctophilin-3) compatible with characteristic expansion of the disease. Discussion: Huntington’s Disease Like-2 has an autosomal dominant character. A rare disease related to repetitive mutations of cytosine-thymineguanine in the Junctophilin-3 gene. Frequently among 29–41-year-olds and represented by progressive movement disorders, dementia and psychiatric alterations and survival rate of 10 to 20 years after the onset of symptoms. Atrophy of the caudate and cerebral cortex is identified in cranial MRI. Diagnosis’ based on genetic testing and treatment is symptomatic in addition to genetic counseling. Conclusion: In this case the patient presented progressive movement disorders in addition to psychiatric and cognitive alterations as other family members without previous diagnosis of Huntington disease-like 2. Due to the rarity of the disease beside the genetic chance of hereditary cases follow-up with a specialist for symptomatic family members had been requested in addition to genetic counseling since 50% of siblings are at risk of developing the disease.
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Constantin, Iuliana Luminița y Marin Chirazi. "Manifestări comportamentale deviante ale elevilor din ciclul primar – în special ale celor cu tulburări din spectrul autist". En Congresul Ştiinţific Internaţional "Sport. Olimpism. Sănătate". State University of Physical Education and Sport, Republic of Moldova, 2022. http://dx.doi.org/10.52449/soh22.11.

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According to research in the field of ASD, among the triggers of this disorder have been detected so far "those genetic, environmental or neurobiological; these factors play a key role in the manifestation of behavioral symptoms, the latter being the main element by which TSA is diagnosed in many cases” [12]. The bibliographic resources allowed us to know what are the specific behavioral manifestations of children diagnosed with ASD (and with elements from the ADHD sphere), in order to be able to identify concretely among the primary school students where the experiment was performed all those externalizations of during physical education classes. Research methods used: bibliographic, observational and tabular documentation. Results and Discussions: The application of the initial observation sheet resulted in the aspects described, as indicated in Table 1. Conclusions: Following this detailed analysis, carried out during physical education classes, it emerged that students with special educational needs, respectively those diagnosed with autism spectrum disorders have deviant behavioral manifestations, always disturbing the activities during classes, often disregarding the rules established for the development of classes in optimal conditions; at the same time, these students face difficulties in maintaining and forming connections with their classmates.
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Bhaskaran, Smitha y Pramod Nair. "430 X-linked ichthyosis, an under diagnosed genetic skin disorder in children-case report". En RCPCH Conference Singapore. BMJ Publishing Group Ltd, 2021. http://dx.doi.org/10.1136/bmjpo-2021-rcpch.241.

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Reis, Drielly Tífany Ferreira, Rafaela Rodrigues Pereira y Rogerio Alves da Silva. "Influence of physiotherapy in the treatment of children with autism spectrum disorder". En II INTERNATIONAL SEVEN MULTIDISCIPLINARY CONGRESS. Seven Congress, 2023. http://dx.doi.org/10.56238/homeinternationalanais-034.

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Abstract Introduction: The etiology of the disorder is not yet well defined, what is known is that several factors can predispose the child to have autism, which may be genetic and environmental factors, according to scientific evidence. The TEA has three measurement degrees, classified as mild, moderate and severe. It is important that the autistic child and his family have the support of a multidisciplinary team that instructs them to overcome the diagnosis and the current situation in which they find themselves. Based on the characteristics presented by the autistic individual, there is a need to develop activities that encourage movement patterns, posture, communication, socialization and psychic, for this reason the physical therapy intervention must occur early, promoting improvements in psychomotor development and daily needs. Objective: Highlight the benefits of physical therapy as a treatment for children with autism spectrum disorder, present with autism spectrum disorder and talk about the family attitude in view of the autism diagnosis. Methods: This study qualifies for its basic nature, being a bibliographical research with a qualitative approach, through scientific journals of the last 10 years. Conclusion: When talking about physiotherapy in ASD, it is possible to understand that as the autistic person undergoes these treatments, their difficulties become smaller. Physiotherapy allows the child to have physical, motor and emotional well-being.
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Informes sobre el tema "Genetic disorders in children"

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Riley, Catherine y Kate Wilson. Anaesthesia for Children with Skin Disorders. World Federation of Societies of Anaesthesiologists, agosto de 2024. http://dx.doi.org/10.28923/atotw.530.

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This tutorial explores the provision of anaesthesia for children with skin disorders, which range from mild to life-threatening. The anaesthetist must balance prevention of skin trauma or infection with the provision of safe anaesthesia, including airway and temperature management.
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Andrews, Lori, B. Complex Genetic Disorders and Intellectual Property Rights Final Report. Office of Scientific and Technical Information (OSTI), noviembre de 2006. http://dx.doi.org/10.2172/895052.

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Jacobsen, George. Group experience with parents of preschool children with seizure disorders. Portland State University Library, enero de 2000. http://dx.doi.org/10.15760/etd.2892.

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PELIKHOVA, ANNA. Methodology of health-improving work with preschool children with speech disorders. Science and Innovation Center Publishing House, diciembre de 2020. http://dx.doi.org/10.12731/metodika-ozdorovitelnoy-raboty.

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Пособие нацелено на формирование педагогов ДОУ готовности к педагогической деятельности в области здоровьесбережения детей с нарушениями речи, на реализации государственного образовательного стандарта, обогащению профессионального опыта педагогов. Учебно-методическое пособие предназначено для организации учебных занятий в рамках курсовой подготовки и переподготовки педагогов ДОУ по программам: «Педагогическая деятельность в условиях реализации ФГОС ДО» и «Теория и методика воспитания и обучения детей с ОВЗ».
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Wallace, Ina F. Universal Screening of Young Children for Developmental Disorders: Unpacking the Controversies. RTI Press, febrero de 2018. http://dx.doi.org/10.3768/rtipress.2018.op.0048.1802.

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In the past decade, American and Canadian pediatric societies have recommended that pediatric care clinicians follow a schedule of routine surveillance and screening for young children to detect conditions such as developmental delay, speech and language delays and disorders, and autism spectrum disorder. The goal of these recommendations is to ensure that children with these developmental issues receive appropriate referrals for evaluation and intervention. However, in 2015 and 2016, the US Preventive Services Task Force (USPSTF) and the Canadian Task Force on Preventive Health Care issued recommendations that did not support universal screening for these conditions. This occasional paper is designed to help make sense of the discrepancy between Task Force recommendations and those of the pediatric community in light of research and practice. To clarify the issues, this paper reviews the distinction between screening and surveillance; the benefits of screening and early identification; how the USPSTF makes its recommendations; and what the implications of not supporting screening are for research, clinical practice, and families.
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Shin, Su-Jeong Hwang, Brianna Smith y Kristi Gaines. Investigation of Therapy Clothing Products for Children with Autism Spectrum Disorders. Ames: Iowa State University, Digital Repository, noviembre de 2015. http://dx.doi.org/10.31274/itaa_proceedings-180814-1151.

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Mitcham, Sara. Location of Dyspraxic Characteristics in Children with Severe "Functional" Articulation Disorders. Portland State University Library, enero de 2000. http://dx.doi.org/10.15760/etd.2277.

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Andrews, Lori. Ethical and legal issues arising from complex genetic disorders. DOE final report. Office of Scientific and Technical Information (OSTI), octubre de 2002. http://dx.doi.org/10.2172/805433.

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Saini, Ravinder, Syed Altafuddin, Sunil Vaddamanu, Vishwanath Gurumurthy y Masroor Kanji. The Association Between Genetic Factors and Temporomandibular Disorders: A Systematic Literature Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, abril de 2024. http://dx.doi.org/10.37766/inplasy2024.4.0063.

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Ylvisaker, Mark. Rehabilitation of Children and Adults With Cognitive-Communication Disorders After Brain Injury. Rockville, MD: American Speech-Language-Hearing Association, 2003. http://dx.doi.org/10.1044/policy.tr2003-00146.

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