Relevant bibliographies by topics / Intellectual disability Genetic aspects

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Intellectual disability Genetic aspects'

Author: Grafiati
Published: 10 December 2022
Last updated: 31 July 2025

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Journal articles on the topic "Intellectual disability Genetic aspects"

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Kar, Sujita K., Jamshed Ahmad, and TV Ram Kumar. "Neuropsychiatric Aspects of Congenital and Genetic Disorders." Indian Journal of Behavioural Sciences 25, no. 02 (2022): 117–27. http://dx.doi.org/10.55229/ijbs.v25i2.07.

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Neuropsychiatry is an area of medicine that deals with behavioural issues caused by brain dysfunction. It is found at the intersection of neurology and psychiatry. Individuals with congenital and genetic diseases are more likely to experience neuropsychiatric symptoms (particularly mental retardation), which can lead to considerable disability and a lower quality of life. Developmental delay, intellectual disability, autism spectrum disorders (ASDs), and cognitive dysfunction are the most common symptoms of neuropsychiatric illnesses. Many intellectual developmental abnormalities are caused by
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Medyanik, Alexandra D., Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, and Elena V. Kondakova. "Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies." Biomolecules 15, no. 1 (2025): 133. https://doi.org/10.3390/biom15010133.

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Developmental and epileptic encephalopathies (DEEs) are a group of neuropediatric diseases associated with epileptic seizures, severe delay or regression of psychomotor development, and cognitive and behavioral deficits. What sets DEEs apart is their complex interplay of epilepsy and developmental delay, often driven by genetic factors. These two aspects influence one another but can develop independently, creating diagnostic and therapeutic challenges. Intellectual disability is severe and complicates potential treatment. Pathogenic variants are found in 30–50% of patients with DEE. Many gene
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Iuhas, Alin Remus, Claudia Jurca, and Marius Bembea. "Epidemiological aspects in phenylketonuria patients from a region in northwestern Romania." Romanian Journal of Pediatrics 71, no. 2 (2022): 55–61. http://dx.doi.org/10.37897/rjp.2022.2.2.

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Introduction. Phenylketonuria (PKU), a genetic disease with autosomal dominant transmission, is the most frequent inborn error in aminoacidic metabolism. The variations in phenylalanine-hydroxylase (PAH) gene lead to a lowered enzymatic activity causing hyperphenylalaninemia. PKU has a mean European prevalence of 1:10,000 newborns, with a large variation in different ethnicities and geographic regions. The large genetic variability (over 1200 genetic variants known) as well as other factors determines a wide spectrum of metabolic phenotypes. Untreated, PKU leads to irreversible intellectual di
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Fragoso, D. C., D. M. Nunes, A. C. M. Maia, et al. "What We Should Not Forget about Down Syndrome." Neurographics 11, no. 3 (2021): 149–65. http://dx.doi.org/10.3174/ng.2000043.

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Down syndrome is the foremost common genetic cause of intellectual disability. The additional copy of chromosome 21 confers potential changes in virtually all organ systems, including the brain, neck structures, and spine. Neuroradiologists should be aware of the multitude of imaging findings in patients with Down syndrome to correctly identify and diagnose life-altering conditions associated with this syndrome. In particular, the high prevalence of age-related cognitive decline and dementia stands out more clearly in recent decades due to the notable increase in these individuals' survival. A
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Gavril, Eva-Cristiana, Alina Costina Luca, Alexandrina-Stefania Curpan, et al. "Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review." Children 8, no. 9 (2021): 751. http://dx.doi.org/10.3390/children8090751.

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Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other in
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Cammarata-Scalisi, Francisco, Michele Callea, Diego Martinelli, et al. "Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management." Genes 13, no. 3 (2022): 504. http://dx.doi.org/10.3390/genes13030504.

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Phelan–McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of contiguous genes located in the distal portion of the long arm of chromosome 22, including the SHANK3 gene. Sequence variants of SHANK3, including frameshift, nonsense mutations, small indels and splice site mutations also result in PMS. Furthermore, haploinsufficiency in SHANK3 has been suggested as the main cause of PMS. SHANK3 is also associated with intellectual disability, autism spectrum disorder and schizophrenia. The phenotype of PM
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Eising, Else, Arianna Vino, Heather L. Mabie, Thomas F. Campbell, Lawrence D. Shriberg, and Simon E. Fisher. "Genome Sequencing of Idiopathic Speech Delay." Human Mutation 2024 (March 28, 2024): 1–14. http://dx.doi.org/10.1155/2024/9692863.

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Genetic investigations of people with speech and language disorders can provide windows into key aspects of human biology. Most genomic research into impaired speech development has so far focused on childhood apraxia of speech (CAS), a rare neurodevelopmental disorder characterized by difficulties with coordinating rapid fine motor sequences that underlie proficient speech. In 2001, pathogenic variants of FOXP2 provided the first molecular genetic accounts of CAS aetiology. Since then, disruptions in several other genes have been implicated in CAS, with a substantial proportion of cases being
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MacMahon, Kenneth, and Ricky McClements. "Working together: making the case for integrated forensic services for people with intellectual disabilities." Journal of Intellectual Disabilities and Offending Behaviour 6, no. 3/4 (2015): 204–10. http://dx.doi.org/10.1108/jidob-08-2015-0021.

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Purpose – There is a general consensus that healthcare for people with intellectual disabilities should be provided by multi-disciplinary teams. Within a forensic setting, recommendations are often made for separate or “parallel” forensic teams, operating independently of generic mental health or intellectual disability teams. An alternative to this model is an “integrated” service, where specialist forensic clinicians work within the general intellectual disability service, to provide support for clients with forensic needs. For clients with intellectual disabilities and forensic needs, there
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Anand, Piyush, and Shamsher Singh. "Exploring the interconnection of autism and intellectual disability: Advancements in current research overview." Pharmaspire 15, no. 03 (2023): 121–30. http://dx.doi.org/10.56933/pharmaspire.2023.15122.

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This comprehensive review provides an in-depth examination of the current understanding of the link between autism spectrum disorder (ASD) and intellectual disability (ID). Drawing from empirical research, clinical studies, and theoretical frameworks, the review explores the shared features, etiological factors, diagnostic challenges, and intervention strategies associated with the cooccurrence of ASD and ID. Neurobiological overlaps, including genetic and neurodevelopmental perspectives, are discussed to uncover the complex relationship between these conditions. The review also highlights the
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Subramanian, L., Y. Wei, C. Nguyen, R. Hicks, P. Chitra, and C. Campbell. "P.074 Myopathic aspects of Mowat-Wilson Syndrome." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 44, S2 (2017): S32. http://dx.doi.org/10.1017/cjn.2017.158.

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Background: Mowat-Wilson Syndrome (MWS) is a genetic syndrome (ZEB2, OMIM: 235730) that occurs in 1 in 50000 births. It is characterized by microcephaly, intellectual disability, dysmorphisms (prominent chin, cupped ears, broad nasal bridge) and Hirschsprung’s disease. Although motor delay and hypotonia are common components, a myopathy has not been described in MWS literature. A childhood case with myopathic features prompted further study of this rare disease. Methods: Patients were recruited from the Mowat-Wilson Foundation via email or social media to complete a survey. Results: Thirteen s
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Dissertations / Theses on the topic "Intellectual disability Genetic aspects"

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Murray, Aoife Maureen. "Investigating the role of ZDHHC9 in intellectual disability." Thesis, University of Cambridge, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.648223.

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Morgan, Vera Anne. "Intellectual disability co-occurring with schizophrenia and other psychiatric illness : epidemiology, risk factors and outcome." University of Western Australia. School of Psychiatry and Clinical Neurosciences, 2008. http://theses.library.uwa.edu.au/adt-WU2008.0209.

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(Truncated abstract) The aims of this thesis are: (i) To estimate the prevalence of psychiatric illness among persons with intellectual disability and, conversely, the prevalence of intellectual disability among persons with a psychiatric illness; (ii) To describe the disability and service utilisation profile of persons with conjoint disorder; (iii) To examine, in particular, intellectual disability co-occurring with schizophrenia; and (iv) To explore the role of hereditary and environmental (specifically obstetric) risk factors in the aetiology of (i) intellectual disability and (ii) intelle
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Watts, Graeme H. "Intellectual disability and spirituality." Thesis, The University of Sydney, 2006. https://hdl.handle.net/2123/27915.

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Intellectual disability, and in particular profound intellectual disability, has an impact on all aspects of a quality of life including that of spiritual development. Some insight into this influence can be gained from a historical review of the attitudes in general towards people with an intellectual disability. Such a review may be especially pertinent when inferences can be drawn from a religious context. References from the Bible through to contemporary sources present, at best, a mixed record. Contemporary responses from the church have taken the form of policies and guidelines
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Mattioli, Francesca. "Identification of novel genetic causes of monogenic intellectual disability." Thesis, Strasbourg, 2018. http://www.theses.fr/2018STRAJ035/document.

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La déficience intellectuelle (DI) est une trouble du neuro développement caractérisée par une extrême hétérogénéité génétique, avec plus de 700 gènes impliqués dans des formes monogéniques de DI. Cependant un nombre important de gènes restent encore à identifier et les mécanismes physiopathologiques de ces maladies neuro développementales restent encore à comprendre. Mon travail de doctorat a consisté à identifier de nouvelles causes génétiques impliquées dans la DI. En utilisant différentes techniques de séquençage de nouvelle génération, j’ai pu augmenter le taux de diagnostic chez les patie
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Zhao, Jin. "Sequence based identification of genetic variation associated with intellectual disability." Doctoral thesis, Uppsala universitet, Institutionen för immunologi, genetik och patologi, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-326283.

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Intellectual disability (ID) is a common neurodevelopmental condition, often caused by genetic defects. De novo variation (DNV) is an important cause of ID, especially in severe or syndromic forms of the disorder. Next generation sequencing has been a successful application for finding pathogenic variation in ID patients. The main focus of this thesis is to use whole exome sequencing (WES) and whole genome sequencing (WGS) to identify pathogenic variants in undiagnosed ID patients. In Paper I, WES was used in family trios to identify pathogenic DNVs in patients diagnosed with ID in combination
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Burbidge, Cheryl A. "The assessment of hyperactivity in genetic syndromes associated with intellectual disability." Thesis, University of Birmingham, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.422778.

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Pia, Bruno Lucia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220415.

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Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier diagnostic
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Bruno, Lucia Pia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220435.

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Abstract Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier d
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Bruno, Lucia Pia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220439.

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Abstract Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier d
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Al, Amri Ahmed Hamed Hamood. "Genetic basis of intellectual disability and schizophrenia in selected Omani and UK families." Thesis, University of Leeds, 2017. http://etheses.whiterose.ac.uk/18055/.

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Intellectual disability (ID) is devastating condition which is defined using three criteria: reduced intellectual ability, deficit in two or more adaptive behaviours, and diagnosis before the age of 18 years. ID can have various causes, but genetic factors are thought to be responsible for up to 50% of cases. ID is a heterogeneous and complex disorder, and more than 800 genes have been implicated in its pathology. Schizophrenia (SZ) is another complex neurodevelopmental condition that also affects the brain and has a partially overlapping genetic basis with ID. This thesis describes work carri
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Books on the topic "Intellectual disability Genetic aspects"

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L, Knight Samantha J., ed. Genetics of mental retardation: An overview encompassing learning disability and intellectual disability. Karger, 2010.

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Louhiala, Pekka. Preventing intellectual disability: Ethical and clinical issues. Cambridge University Press, 2004.

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A, Rondal J., ed. Intellectual disabilities: Genetics, behaviour, and inclusion. Whurr, 2004.

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Annapia, Verri, ed. Life span development in genetic disorders: Behavioral and neurological aspects. Nova Science Publishers, 2008.

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1952-, Butler Merlin Gene, and Meaney F. John, eds. Genetics of developmental disabilities. Taylor & Francis, 2005.

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Nurnberger, John I. Psychiatric genetics. Chapman & Hall Medical, 1998.

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Berrettini, Wade, and John I. Nurnberger. Principles of psychiatric genetics. Cambridge University Press, 2012.

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Senior, Robert. Towards a better understanding: Aspects of mental handicap. Euromonitor Publications, 1985.

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Carlson, Licia. The faces of intellectual disability: Philosophical reflections. Indiana University Press, 2010.

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Carlson, Licia. The faces of intellectual disability: Philosophical reflections. Indiana University Press, 2010.

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Book chapters on the topic "Intellectual disability Genetic aspects"

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Green, Renée M., and Ainsley Losh. "Intellectual Disability." In Neuropsychiatric Care for Genetic Syndromes and Other Neurodevelopmental Disorders. Springer Nature Switzerland, 2024. https://doi.org/10.1007/978-3-031-76269-7_2.

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Carpenter, Peter. "Mental Health Aspects of Autism Spectrum Disorders." In Intellectual Disability Psychiatry. John Wiley & Sons, Ltd, 2009. http://dx.doi.org/10.1002/9780470682968.ch7.

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Kaufmann, Walter E., George T. Capone, Megan Clarke, and Dejan B. Budimirovic. "Autism in Genetic Intellectual Disability." In Autism. Humana Press, 2008. http://dx.doi.org/10.1007/978-1-60327-489-0_4.

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Carlier, Michèle, and Pierre L. Roubertoux. "Genetic and Environmental Influences on Intellectual Disability in Childhood." In Behavior Genetics of Cognition Across the Lifespan. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-7447-0_3.

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Fidler, Deborah J., Lisa Daunhauer, David E. Most, and Harvey Switzky. "Genetic Disorders Associated with Intellectual Disability: An Early Development Perspective." In The Wiley-Blackwell Handbook of Infant Development. Wiley-Blackwell, 2010. http://dx.doi.org/10.1002/9781444327588.ch12.

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McDuffie, Andrea, Angela John Thurman, Marie Moore Channell, and Leonard Abbeduto. "Language Disorders in Children with Intellectual Disability of Genetic Origin." In Handbook of Child Language Disorders. Psychology Press, 2017. http://dx.doi.org/10.4324/9781315283531-2.

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Shearer, Joanne. "Aspects of Quality of Life for Children with a Disability in Inclusive Schools." In Enhancing the Quality of Life of People with Intellectual Disabilities. Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9650-0_13.

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Harris, James C. "Genetics, Behavior, and Behavioral Phenotypes." In Intellectual Disability. Oxford University Press, 2005. http://dx.doi.org/10.1093/oso/9780195178852.003.0010.

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Geneticists and specialists working with individuals with intellectual disability now recognize that genetic syndromes may have characteristic physical phenotypes and behavioral features that may be linked to a specific genetic syndrome. These patterns of behavior are referred to as behavioral phenotypes. This chapter utilizes a developmental perspective to provide a definition and characterization of behavioral phenotypes in neurodevelopmental disorders and to discuss etiology, methodologies to understand underlying mechanisms, and the natural history of the disorder. Neurogenetic disorders w
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Schwartz, Charles E., Fiorella Gurrieri, and Giovanni Neri. "Intellectual Disability Syndromes." In Neurobiology of Mental Illness, edited by Joseph D. Buxbaum. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199934959.003.0076.

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Intellectual disability (ID) constitutes a spectrum of chronic human diseases that occur in about 1-3% of the population. This spectrum includes those precipitated by environmental factors as well as genetic disorders, the latter including some that are relatively prevalent, such as Down syndrome and fragile X syndrome, to rather “private” conditions limited to a few individuals with small chromosomal duplications or deletions. With the assistance of tremendous advances in technology – chromosome microarray analysis and next generation sequencing – it is now possible to arrive at a genetic dia
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Girimaji, Satish C., Salah Basheer, Asit Biswas, and Satheesh Kumar Gangadharan. "Intellectual Disability—Concepts, Aetiology, and Genetics." In Oxford Textbook of the Psychiatry of Intellectual Disability. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198794585.003.0003.

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There are three major conceptualizations of Intellectual Disability (ID): as a lower end of the Gaussian distribution of intelligence in the population, a bio-medical condition secondary to adverse influences on the developing brain (neurodevelopmental disorder), and as a socio-cultural construct focusing on impairments in adaptive functioning and the need for extra supports. Modern definitions incorporate all these aspects. There are hundreds of causes of ID, both genetic and environmental, that act either singly or in combination. These are classified based on the timing (pre-, peri-, and po
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Conference papers on the topic "Intellectual disability Genetic aspects"

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Bezerra, Rebeka Ellen de Alencar, Agda Yasmim Ferreira Correia, Héryka Wanessa do Nascimento Rolim, et al. "Importance of individualized diagnosis and treatment in refractory epilepsy associated with intellectual disability." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.050.

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Background: Epilepsy is a complex neurological disorder, that affects 0.5 to 1% of the population, with a diversified etiology, but with emphasis on its relation with genetics. Despite there are several therapies to treat it, in some cases, this variety is still insuficiente, featuring refractory epilepsy, frequent in people with intelectual disabilities (ID). Objectives: To analyze the scientific production about refractory epilepsy and ID. Methods: Integrative literature review that searched for international articles in the Virtual Health Library (VHL), using the keywords “Intellectual disa
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Garcia, Lucy, Augusto Salazar, Mauricio Garcia, Sayira Hernandez, and Cesar Gomez. "VIDEO GAME ANALYTICS AND DOWN SYNDROME." In eLSE 2018. ADL Romania, 2018. http://dx.doi.org/10.12753/2066-026x-18-036.

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Today there are many children with Down Syndrome (DS) who have difficulties in the teaching-learning process in general and in particular in mathematics. These difficulties have their primary origin in the intellectual disability that is manifested to a greater or lesser extent in people with DS (PDS) due to a genetic alteration characterized by an additional copy of chromosome 21. This genetic imbalance causes a decrease in the number of neurons and synaptic connections which in turn makes mental and motor processes slower for them than for other people. Notwithstanding the preceding, the pop
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Yang, Junmeng, Susan Huang, Eric Li, and Yongsheng Bai. "Investigating Genetic Signatures for Sex-Biased miRNA targeted Genes related to Intellectual Disability." In 2020 IEEE International Conference on Bioinformatics and Biomedicine (BIBM). IEEE, 2020. http://dx.doi.org/10.1109/bibm49941.2020.9313206.

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Elias, Stefany, and Maria Luiza Benevides. "Verheij syndrome: a rare cause of intellectual disability." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.560.

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Case presentation: A 4-year-old boy was born to non-consanguineous parents at 38 weeks. Neonatal anthropometric measurements were normal. Since birth, he presented with global developmental delay, and muscular hypotonia. At present, he shows adequate psychosocial interaction. He has a healthy 3-year-old sister. On physical examination, there are dysmorphisms, such as prominent and pointed ears, long eyelashes, elongated face, flat occipital region, supernumerary teeth, and maxillary hypoplasia. His anthropometric measurements are normal for his age (p50). On neurological examination, he presen
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Dousseau, Gabriella Corrêa, Julian Letícia de Freitas, Luíza Alves Corazza, Cristiane de Araújo Martins Moreno, and Maria Sheila Guimarães Rocha. "Arginase 1 deficiency: a differential for progressive ataxia and intellectual disability." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.466.

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Introduction: Arginase-1 deficiency (OMIM #207800) is a rare autosomal recessive genetic disorder caused by mutations in the ARG1 gene, resulting in partial or complete loss of enzyme function that affects the liver-based urea cycle. Spastic paraparesis with onset in early childhood is the most obvious sign of the disease but other symptoms include irritability, delayed growth and development, ataxia, recurrent vomiting, feeding/protein aversion, and anorexia. Brain imaging may reveal cerebral atrophy and cerebellar atrophy may also occur. The ARG1 gene sits on chromosome 6 (6q23) and there ar
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Batool, Sidra Mehar, Asad Khan, and Imran Riazat. "6501 Significance of genetic testing (microarray) as first line investigation in children with developmental delay and intellectual disability." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Birmingham, 25 March 2024 – 27 March 2024. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2024. http://dx.doi.org/10.1136/archdischild-2024-rcpch.154.

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Machado, Roberta Ismael Lacerda, Bruno de Mattos Lombardi Badia, Wladimir Bocca Vieira de Rezende Pinto, et al. "INPP5K-Related congenital muscular dystrophy: when juvenile cataracts give clues to a complex diagnosis." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.511.

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Introduction: Congenital muscular dystrophies (CMDs) are a group of rare genetic muscle diseases that present at birth or during infancy with hypotonia and weakness. Multiple forms of CMDs are also associated with cerebral and ocular phenotypes. Recently, INPP5K mutations have been described associated with CMD, cataracts and cognitive impairment. The INPP5K gene, encodes SKIP, one of the enzymes that phosphorylate the 5-phosphate position of phosphoinositides and is highly expressed in developing and adult brain, eye and muscle. Methods: We performed a case report of three Brazilian patients
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Popovici, Doru vlad, and Dorina Ardeleanu. "RESULTS FROM INTEGRATING THE "LOGOPEDIX" SOFTWARE PROGRAM IN THE SPEECH-LANGUAGE THERAPY." In eLSE 2014. Editura Universitatii Nationale de Aparare "Carol I", 2014. http://dx.doi.org/10.12753/2066-026x-14-240.

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The high incidence of speech-language disorders among children with intellectual disability prompted us to seek new ways to improve the language and speech therapy, turning to the best account the latest available digital resources, by developing an original intervention program. The aim of this action research study was to assess the positive impact of the "Logopedix" software application towards meeting the speech-language therapy objectives and towards improving certain aspects of psychomotricity. The 40 participating elementary school children with intellectual disability, aged between 7 a
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Guy, Attia, Levinberg Roee, Arad Erez, Ilan Davidov, and Ludmila Sidorenko. "New Biotechnological Opportunities to Assess the Influence of Lifestyle Factors in Obesity." In 12th International Conference on Electronics, Communications and Computing. Technical University of Moldova, 2022. http://dx.doi.org/10.52326/ic-ecco.2022/bme.05.

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Background. Obesity results from a malfunction of the body's weight-control mechanisms, which may be influenced by environmental changes. Essentially, the obesity risk relies on two significant interdependent factors: genetic variations (single-nucleotide polymorphisms, haplotypes) and environmental risk exposure. Due to new biotechnologies over 127 potential genes for obesity have been identified, and evidence supports the function of 22 genes in at least five distinct groups. Gene and environment interactions mean that the synergy between genotype and environment is neither additive or multi
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Melo Neto, Fernando de Paiva, Artêmio José Araruna Dias, Marinna Karla da Cunha Lima Viana, et al. "16p microtriplication case report associated with autistic spectrum disorder." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.540.

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Abstract:
Context: The literature on interstitial microtriplications at the 16p11.2 locus is scarce and unclear. We bring a rare case of microtriplications in the 16p11.2 locus associated with Syndromic Autistic Spectrum Disorder (ASD) and Intellectual Disability (ID) to stimulate discussion about this rare and complex condition. Case report: A.M.C., female, 10 years old, with history of agitation and aggression. Referred to neuropediatrician at 6 years old for behavioral change, socialization difficulties, agitation, heteroaggressiveness, developmental delay and school difficulty. She is not literate,
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