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Journal articles on the topic 'Intellectual disability Genetic aspects'

Author: Grafiati

Published: 10 December 2022

Last updated: 31 July 2025

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1

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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Atli, Emine Ikbal, Engin Atli, Sinem Yalcintepe, et al. "Clinical Features of Aberrations Chromosome 22q: A Pilot Study." Global Medical Genetics 09, no. 01 (2021): 042–50. http://dx.doi.org/10.1055/s-0041-1739496.

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Abstract Objective A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of the 22q chromosome, are now well-defined. Our aim in the study was to show phenotypic variability associated with rearrangements of the 22q chromosomal region. Methods We focused our study on clinical aspects of these disorders, including genetic testing, genotype-phenotype correlation, and potential treatments. A total of 998 patients wer

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Robb, Nigel, Annalu Waller, and Kate A. Woodcock. "Developing a Task Switching Training Game for Children With a Rare Genetic Syndrome Linked to Intellectual Disability." Simulation & Gaming 50, no. 2 (2019): 160–79. http://dx.doi.org/10.1177/1046878119834319.

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Background. The ability to rapidly switch between tasks is important in a variety of contexts. Training in task switching may be particularly valuable for children with intellectual disability (ID), specifically ID linked to genetic syndromes such as Prader-Willi syndrome (PWS). We have developed a cognitive training game for children with PWS and performed a pilot evaluation of the programme to inform future game development. Here, we describe and critically reflect on the development and pilot evaluation process. Methods. Several novel aspects of our approach are highlighted in this paper, i

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Di Stefano, Vincenzo, Marianna Gabriella Rispoli, Noemi Pellegrino, et al. "Diagnostic and therapeutic aspects of hemiplegic migraine." Journal of Neurology, Neurosurgery & Psychiatry 91, no. 7 (2020): 764–71. http://dx.doi.org/10.1136/jnnp-2020-322850.

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Hemiplegic migraine (HM) is a clinically and genetically heterogeneous condition with attacks of headache and motor weakness which may be associated with impaired consciousness, cerebellar ataxia and intellectual disability. Motor symptoms usually last <72 hours and are associated with visual or sensory manifestations, speech impairment or brainstem aura. HM can occur as a sporadic HM or familiar HM with an autosomal dominant mode of inheritance. Mutations in CACNA1A, ATP1A2 and SCN1A encoding proteins involved in ion transport are implicated. The pathophysiology of HM is close to the proce

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Aluzeib, Abdulmohsen Abdullah, Sultan Nafea Alshammari, and Sattm Ghadwi Alshammari. "Understanding Down Syndrome: A Systematic Review of Genetic, Clinical, and Cognitive Implications." Journal of Ecohumanism 3, no. 7 (2024): 1154–62. http://dx.doi.org/10.62754/joe.v3i7.4288.

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Down syndrome (DS) is the most common chromosomal disorder, primarily caused by trisomy 21, and is associated with a range of genetic, clinical, and cognitive challenges. This systematic review aims to provide a comprehensive understanding of these aspects by synthesizing recent research on the genetic mechanisms underlying DS, its common clinical manifestations, and the cognitive impairments often observed in affected individuals. Genetic studies highlight the complexity of trisomy 21 and its impact on phenotypic variability. Clinically, DS is associated with distinct physical features, conge

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Mitra, Manu. "Introduction on Autism Genetics." SCIOL Genetic Science 1, no. 2 (2018): 45–48. https://doi.org/10.5281/zenodo.2535491.

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Autism spectrum disorder indicates range of conditions characterized by challenges with social skills, repetitive behaviors, discussion, expression, non-verbal communication. There is not one autism but many types that can be caused by mutant genes, environmental influences and other factors. The fact about autism as per Centers of Disease Control and Prevention estimates 1 in 59 children have autism and around 1 out of 3 people with autism remain nonverbal and around 1 out of 3 people approximately have an intellectual disability who have autism in United States. Below are few reviews from bo

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Lombardo, Barbara, Daniela Esposito, Sandra Iossa, et al. "Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations." Cytogenetic and Genome Research 158, no. 1 (2019): 25–31. http://dx.doi.org/10.1159/000499886.

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Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly in the proband, with the aim of adding new aspects for obtaining a clear diagnosis. We performed array-comparative genomic hybridization and quantitative reverse transcriptase PCR (qRT-PCR) analyses. We identified a deletion of chromosome 20p12.1 involving the macrodomain containin

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McClimens, Alex, and Frances Gordon. "Presentation of Self in E-veryday Life: How People Labelled with Intellectual Disability Manage Identity as They Engage the Blogosphere." Sociological Research Online 13, no. 4 (2008): 40–52. http://dx.doi.org/10.5153/sro.1774.

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Very little is known about the online habits of people labelled with intellectual disability. What little information there is focuses more on demographic descriptors rather than any analyses of issues specific to that group. Hence the vast majority of the literature is firmly focused on more generic issues as they affect the general population. Some very few disability dedicated studies, however, have examined homepages maintained by individuals who live with Down syndrome. Here at least is evidence of a field of inquiry that recognises there may be particular aspects of web based communicati

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Heide, Solveig, Claire-Sophie Davoine, Paulina Cunha, et al. "IRF2BPLCauses Mild Intellectual Disability Followed by Late-Onset Ataxia." Neurology Genetics 9, no. 6 (2023): e200096. http://dx.doi.org/10.1212/nxg.0000000000200096.

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Background and ObjectivesNeurodevelopmental and neurodegenerative disorders have long been considered as different clinical and molecular entities, and only a few genes are known to be involved in both processes. TheIRF2BPL(interferon regulatory factor 2 binding protein like) gene was implicated in a severe pediatric phenotype characterized by developmental and epileptic encephalopathy and early regression. In parallel, inheritedIRF2BPLvariants have been reported in cohorts of patients with late-onset progressive dystonic and ataxic syndrome with few information about the neurodevelopment of t

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Fahn, Chia Wei. "Perfecting Bodies: Who Are the Disabled in Andrew Niccol’s Gattaca?" Philosophies 5, no. 2 (2020): 6. http://dx.doi.org/10.3390/philosophies5020006.

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This paper will examine the impact of genetic technologies on the corporeal and economical aspects of human lives while emphasizing the ambiguity of disability under these subversive circumstances. In 2013, the world was introduced to CRISPR genetic editing technology, followed by the controversial announcement in 2018 from Chinese scientist He Jiankui, who claims to have genetically engineered twins that were born HIV-immune. The possible social outcome of genetic treatment leading to the alteration of human embryos to create physically and intellectually superior offspring, as well as its im

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Boniel, Snir, Krystyna Szymańska, Robert Śmigiel, and Krzysztof Szczałuba. "Kabuki Syndrome—Clinical Review with Molecular Aspects." Genes 12, no. 4 (2021): 468. http://dx.doi.org/10.3390/genes12040468.

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Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most c

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Ganesan, Shiva, Peter D. Galer, Katherine L. Helbig, et al. "A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation." Genetics in Medicine 22, no. 12 (2020): 2060–70. http://dx.doi.org/10.1038/s41436-020-0923-1.

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Abstract Purpose Childhood epilepsies have a strong genetic contribution, but the disease trajectory for many genetic etiologies remains unknown. Electronic medical record (EMR) data potentially allow for the analysis of longitudinal clinical information but this has not yet been explored. Methods We analyzed provider-entered neurological diagnoses made at 62,104 patient encounters from 658 individuals with known or presumed genetic epilepsies. To harmonize clinical terminology, we mapped clinical descriptors to Human Phenotype Ontology (HPO) terms and inferred higher-level phenotypic concepts

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Egger, J., L. Van Dongen, C. Stumpel, E. Wingbermuehle, and T. Kleefstra. "Kbg Syndrome and the Establishment of its Neuropsychological Phenotype." European Psychiatry 41, S1 (2017): S157—S158. http://dx.doi.org/10.1016/j.eurpsy.2017.01.2026.

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ObjectiveKBG syndrome is caused by a mutation in the ANKRD11 gene, characterized by short stature and specific dental, craniofacial and skeletal anomalies. Scarce literature on the phenotypical presentation mention delayed speech and motor development as well as mild to moderate intellectual disabilities. As to psychopathology, often, autism and ADHD are mentioned but not yet substantiated in terms of neurocognitive variables.AimAim of the current study was to investigate neurocognitive aspects of KBG syndrome.Participants and Methods Seventeen patients (aged 6–66 years; ten females) with a pr

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Yang, Lili, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du, and Chaochun Zou. "Genotype–Phenotype Correlations in Angelman Syndrome." Genes 12, no. 7 (2021): 987. http://dx.doi.org/10.3390/genes12070987.

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Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. There are four molecular mechanisms of etiology: maternal deletion of chromosome 15q11–q13, paternal uniparental disomy of chromosome 15q11–q13, imprinting defects, and maternally inherited UBE3A mutations. Different genetic types may s

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De Barros, Paula Vitória Macêdo, Enrico Souza De Godoy, Lucas Rafael Ferreira Soares, and João Ricardo Mendes De Oliveira. "Searching for proper criteria to add new and rare conditions to the Progeroid Syndromes category." Brazilian Journal of Health Review 7, no. 1 (2024): 4365–71. http://dx.doi.org/10.34119/bjhrv7n1-353.

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The progeroid syndromes represents a group of rare diseases that presents clinical aspects of physiological aging at early stages of life. These syndromes share many clinical features such as craniofacial features, skin, hair and nails alterations, neurodevelopment and motor disorders and premature-onset malignancies. Primrose syndrome is a rare autosomal dominant disorder caused by de novo heterozygous missense variants in ZBTB20 and exhibits as main clinical manifestations craniofacial features, intellectual disability, hypotonia, postnatal-onset macrocephaly, behavior abnormalities, progres

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Alyamani, Nawal Rajeh, Noor Mohammed Alharbi, Hadeel Ayman Alrabee, et al. "Pediatric Neurocutaneous Syndromes: Genetic Mutations, Clinical Features, and Dermatological Manifestations." Journal of Healthcare Sciences 04, no. 09 (2024): 401–6. https://doi.org/10.52533/johs.2024.40908.

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Pediatric neurocutaneous syndromes are a group of genetically inherited disorders characterized by the simultaneous involvement of the skin, nervous system, and other organ systems. These syndromes, which include Neurofibromatosis Type 1 (NF1), Tuberous Sclerosis Complex (TSC), and Sturge-Weber Syndrome (SWS), arise from specific genetic mutations that disrupt normal cellular processes, leading to a wide range of clinical manifestations. The genetic mutations associated with these syndromes, such as those in the NF1, TSC1, TSC2, and GNAQ genes, result in dysregulated cell growth and differenti

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Ashraf, Maham, Muhammad Azzam Khan, Bareera Saeed, et al. "Perspective of Parental Satisfaction with Academia of Children with Down Syndrome and Intellectual Disability." Pakistan Journal of Medical and Health Sciences 16, no. 8 (2022): 518–20. http://dx.doi.org/10.53350/pjmhs22168518.

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Background: Down syndrome is the disorder in which physical, mental, and functional deformity is present due to trisomy twenty one, the existence of three chromosomes instead of two normal chromosomes in human genome. Children who have intellectual disability they have neurodevelopmental deficit regards to limited in intellectual operation and adaptive behaviors. One of the safeguards variables as a favorable adaptability to a challenging conditions, like managing a handicapped kid, is marital satisfaction. Higher levels of marital happiness are linked to reduce depression levels, less parenti

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Martínez-Cué, Carmen, and Noemí Rueda. "Signalling Pathways Implicated in Alzheimer′s Disease Neurodegeneration in Individuals with and without Down Syndrome." International Journal of Molecular Sciences 21, no. 18 (2020): 6906. http://dx.doi.org/10.3390/ijms21186906.

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Down syndrome (DS), the most common cause of intellectual disability of genetic origin, is characterized by alterations in central nervous system morphology and function that appear from early prenatal stages. However, by the fourth decade of life, all individuals with DS develop neuropathology identical to that found in sporadic Alzheimer’s disease (AD), including the development of amyloid plaques and neurofibrillary tangles due to hyperphosphorylation of tau protein, loss of neurons and synapses, reduced neurogenesis, enhanced oxidative stress, and mitochondrial dysfunction and neuroinflamm

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ALSHAMRI, Dr KHALID HABIB. "PARENTS` PERSPECTIVES ON THE MARRIAGE OF THEIR DOWN SYNDROME CHILDREN IN SAUDI ARABIA: SOME EDUCATIONAL IMPLICATIONS." International Journal of Social Sciences and Management Review 08, no. 02 (2025): 53–66. https://doi.org/10.37602/ijssmr.2025.8204.

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Knowledge of causal and nosological aspects of intellectual disability accompanying congenital genetic disorders has led to a movement of inclusivity for people with these disorders. An online survey was conducted to examine the perspectives of parents of children with Down Syndrome on the possibility of their children’s marriage and procreation in some Northern cities in Saudi Arabia. Drawing on the results based on the study’s 127 respondents, it was found that parents of children with Down Syndrome generally had a positive view about their children getting married, even though there were no

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Nasywa Achmad, Putri Damayanti Sulistyo, Ranita Arindra Rosanti, and Iqlima Pratiwi. "Kelainan Down Syndrome Ditinjau dari Aspek Neurobiological dan Intelligence." Flourishing Journal 3, no. 4 (2023): 145–51. http://dx.doi.org/10.17977/um070v3i42023p145-151.

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Down syndrome is a disorder caused by the presence of trisomy on the 21st chromosome. People with this disorder show differences in physical characteristics, general intelligence, and other aspects. Research shows that the risk factors for Down syndrome vary between regions and demographic characteristics. Genetic disorders are one of the causes of intellectual disability, which can also lead to the risk of developing infections, autoimmune disorders, and hematological and oncological abnormalities. This study aims to explore more deeply related to Down syndrome from a neurobiological and inte

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Coppola, Maria Antonietta, Abraham Tettey-Matey, Paola Imbrici, Paola Gavazzo, Antonella Liantonio, and Michael Pusch. "Biophysical Aspects of Neurodegenerative and Neurodevelopmental Disorders Involving Endo-/Lysosomal CLC Cl−/H+ Antiporters." Life 13, no. 6 (2023): 1317. http://dx.doi.org/10.3390/life13061317.

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Endosomes and lysosomes are intracellular vesicular organelles with important roles in cell functions such as protein homeostasis, clearance of extracellular material, and autophagy. Endolysosomes are characterized by an acidic luminal pH that is critical for proper function. Five members of the gene family of voltage-gated ChLoride Channels (CLC proteins) are localized to endolysosomal membranes, carrying out anion/proton exchange activity and thereby regulating pH and chloride concentration. Mutations in these vesicular CLCs cause global developmental delay, intellectual disability, various

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Sarkisyan, H. A., A. P. Khokhlova, A. B. Smolyannikova, et al. "Features of clinical manifestations in a child with ring chromosome 13 syndrome in the neonatal period." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 70, no. 2 (2025): 70–76. https://doi.org/10.21508/1027-4065-2025-70-2-70-76.

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Ring chromosome formations are one of the rare genetic anomalies with a prevalence of 1:25,000 — 1:62,000 newborns. Ring chromosomes are formed as a result of sporadic terminal deletions of chromosomal arms, which then “stick together” and form a ring. In 1% of cases, ring chromosomes are inherited from parents. Chromosome 13 ring syndrome is a genetic disorder caused by an anomaly in chromosome 13. This syndrome is rare and is usually associated with a widely varying phenotype (from mild to severe). At the same time, the nature of clinical manifestations is associated with the length of the l

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Ben Fradj, Anes, Neila El Asli, Tasseda Boukherroub, and Claude Olivier. "Developing an integrated performance management and measurement system in healthcare organisations: a Canadian case study." F1000Research 12 (October 30, 2023): 1420. http://dx.doi.org/10.12688/f1000research.138430.1.

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This study proposes a performance management and measurement system for a large healthcare organisation. First, data is collected to analyse and understand the current performance management system. Second, the SWOT (Strengths, Weaknesses, Opportunities, Threats) method is used to identify the main aspects of the performance management system to be improved. Third, based on the scientific literature and SWOT analysis, BSC principles are integrated to this performance management system to better align the organisation’s performance objectives and indicators with its strategy. Finally, we develo

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Lin, Yibing. "Causes and Treatments of Alcohol Addiction among Adolescents." Journal of Education, Humanities and Social Sciences 8 (February 7, 2023): 1899–905. http://dx.doi.org/10.54097/ehss.v8i.4610.

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Alcohol addiction is one of the most serious problems around the world and accounts for personal death and disability. The paper reviews serval studies in recent years about the causes and treatment of alcohol addiction among adolescents, and focuses on adolescents aged 9-19 years. Alcohol addiction inflicts damage on problematic and irreversible consequences such as decline in attention and decrement of intellectual function. This is especially the case for adolescents, who is one of the most vulnerable groups in society. For youth adults, there are several reasons for becoming alcohol addict

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Merrick, Joav, Carmit Cahana, Meir Lotan, Isack Kandel, and Eli Carmeli. "Snoezelen or Controlled Multisensory Stimulation. Treatment Aspects from Israel." Scientific World JOURNAL 4 (2004): 307–14. http://dx.doi.org/10.1100/tsw.2004.30.

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In Israel today, with a total population of over 6 million persons, the Division for Mental Retardation (DMR) provides services to 23,000 persons with intellectual disability (ID). Of the 23,000, residential services are provided to more than 6,000 in close to 60 residential centers, another 2,000 are provided residential care in hostels or group homes in the community in about 50 locations, while the rest are served with day-care kindergarten, day-treatment centers, sheltered workshops, or integrated care in the community. The first Snoezelen room (controlled multisensory stimulation) in the

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Tenorio-Castaño, Jair, Beatriz Morte, Julián Nevado, et al. "Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review." Genes 12, no. 5 (2021): 738. http://dx.doi.org/10.3390/genes12050738.

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Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopmental disorder is a rare disorder characterized by intellectual disability, abnormal craniofacial features and congenital malformations. SHMS is an autosomal dominant hereditary disease caused by pathogenic variants in the PACS1 gene. PACS1 is a trans-Golgi-membrane traffic regulator that directs protein cargo and several viral envelope proteins. It is upregulated during human embryonic brain development and has low expression after birth. So far, only 54 patients with SHMS have been reported. In this work, we report on seven new identi

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Biswas, Dayita, Whitney Cary, and Jan A. Nolta. "PPP2R5D-Related Intellectual Disability and Neurodevelopmental Delay: A Review of the Current Understanding of the Genetics and Biochemical Basis of the Disorder." International Journal of Molecular Sciences 21, no. 4 (2020): 1286. http://dx.doi.org/10.3390/ijms21041286.

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Protein Phosphatase 2 Regulatory Subunit B′ Delta (PPP2R5D)-related intellectual disability (ID) and neurodevelopmental delay results from germline de novo mutations in the PPP2R5D gene. This gene encodes the protein PPP2R5D (also known as the B56 delta subunit), which is an isoform of the subunit family B56 of the enzyme serine/threonine-protein phosphatase 2A (PP2A). Clinical signs include intellectual disability (ID); autism spectrum disorder (ASD); epilepsy; speech problems; behavioral challenges; and ophthalmologic, skeletal, endocrine, cardiac, and genital malformations. The association

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Cerilo-Filho, Marcelo, Julyana Constância Feitosa Marinho, Bruna Stefany Rocha do Nascimento, et al. "A ATUAÇÃO DA ENFERMAGEM FRENTE AO INDIVÍDUO PORTADOR DA SÍNDROME DE DOWN." Psicologia e Saúde em Debate 9, no. 2 (2023): 463–72. http://dx.doi.org/10.22289/2446-922x.v9n2a26.

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Down Syndrome is a chromosomal disorder caused by an extra copy of chromosome 21. This chromosomal alteration is the most common worldwide, the individuals present characteristics inherited from their parents regardless of the pathological condition, and the intellectual disability is the most frequent characteristic of the syndrome among children. Nursing has a relevant role in dealing with children with this pathology, as well as with the whole family, needing to be careful in all aspects, from the carriers to the family members' orientation in facing the syndrome. Thus, this work aimed to d

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Mainardo Rodrigues Bezerra, Lucas, Beatriz Ribas de Melo, Lucas Sousa Cavalcante, et al. "PATOGÊNESE E ASPECTOS CLÍNICOS DA SÍNDROME DE DOWN: UMA REVISÃO BIBLIOGRÁFICA." Revista ft 28, no. 136 (2024): 07–08. http://dx.doi.org/10.69849/revistaft/th10247261607.

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Introduction: Down’s syndrome, caused by trisomy 21, is the most common genetic anomaly and presents a series of complex clinical manifestations that affect multiple body systems. Understanding these molecular and clinical mechanisms is essential for the development of effective therapeutic interventions. Objective: This review article aims to provide an analysis of the pathogenesis and clinical aspects of Down syndrome. Methods: A systematic search of the scientific literature was carried out in the PubMed, Web of Science, Scopus and Google Scholar databases, covering the period from 2009 to

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Vasic, Verica, Mattson S. O. Jones, Denise Haslinger, et al. "Translating the Role of mTOR- and RAS-Associated Signalopathies in Autism Spectrum Disorder: Models, Mechanisms and Treatment." Genes 12, no. 11 (2021): 1746. http://dx.doi.org/10.3390/genes12111746.

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Mutations affecting mTOR or RAS signaling underlie defined syndromes (the so-called mTORopathies and RASopathies) with high risk for Autism Spectrum Disorder (ASD). These syndromes show a broad variety of somatic phenotypes including cancers, skin abnormalities, heart disease and facial dysmorphisms. Less well studied are the neuropsychiatric symptoms such as ASD. Here, we assess the relevance of these signalopathies in ASD reviewing genetic, human cell model, rodent studies and clinical trials. We conclude that signalopathies have an increased liability for ASD and that, in particular, ASD in

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Rad, Abolfazl, Umut Altunoglu, Rebecca Miller, et al. "MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)." Journal of Medical Genetics 56, no. 5 (2018): 332–39. http://dx.doi.org/10.1136/jmedgenet-2018-105623.

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BackgroundPutative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs.ObjectiveA homozygous truncating variant in MAB21L1 has recently been described in a male affected by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism. We emp

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Grandi, Martina, Chiara Galber, Cristina Gatto, et al. "Mitochondrial Dysfunction Causes Cell Death in Patients Affected by Fragile-X-Associated Disorders." International Journal of Molecular Sciences 25, no. 6 (2024): 3421. http://dx.doi.org/10.3390/ijms25063421.

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Mitochondria are involved in multiple aspects of neurodevelopmental processes and play a major role in the pathogenetic mechanisms leading to neuro-degenerative diseases. Fragile-X-related disorders (FXDs) are genetic conditions that occur due to the dynamic expansion of CGG repeats of the FMR1 gene encoding for the RNA-binding protein FMRP, particularly expressed in the brain. This gene expansion can lead to premutation (PM, 56–200 CGGs), full mutation (FM, >200 CGGs), or unmethylated FM (UFM), resulting in neurodegeneration, neurodevelopmental disorders, or no apparent intellectual disabi

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Hofmeister, Benedikt, Celina von Stülpnagel, Cornelia Betzler, et al. "Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects." Neuropediatrics 52, no. 02 (2021): 109–22. http://dx.doi.org/10.1055/s-0041-1722878.

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AbstractNicolaides–Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via “Network Therapy of Rare Epilepsies (NETRE)” and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental

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Morisse, Filip, Eleonore Vandemaele, Claudia Claes, Lien Claes, and Stijn Vandevelde. "Quality of Life in Persons with Intellectual Disabilities and Mental Health Problems: An Explorative Study." Scientific World Journal 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/491918.

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The field of intellectual disability (ID) is strongly influenced by the Quality of Life paradigm (QOL). We aimed at investigating whether or not the QOL paradigm also applies to clients with ID and cooccurring mental health problems. This paper aims at stimulating a debate on this topic, by investigating whether or not QOL domains are universal. Focus groups with natural and professional network members were organized to gather qualitative data, in order to answer two questions: (1) Are the QOL dimensions conceptualized in the model of Schalock et al. applicable for persons with ID and mental

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Hamburg, S., C. M. Startin, and A. Strydom. "The Relationship Between Sound–Shape Matching and Cognitive Ability in Adults With Down Syndrome." Multisensory Research 30, no. 6 (2017): 537–47. http://dx.doi.org/10.1163/22134808-00002579.

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Down syndrome (DS), the most common genetic cause of intellectual disability, is characterised by a pattern of cognitive deficits hypothesised as relating to later developing neural systems. Multisensory integration (MSI) has been shown to benefit cognitive performance on numerous tasks in the typically developing population and is implicated in the early development of various cognitive processes. Given these developmental links of both MSI and DS it is important to determine the relationship between MSI and DS. This study aimed to characterise sound–shape matching performance in young adults

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Bhattacharyya, Anita. "Advancing Knowledge of Down Syndrome Brain Development and Function With Human Stem Cells." American Journal on Intellectual and Developmental Disabilities 125, no. 2 (2020): 90–92. http://dx.doi.org/10.1352/1944-7558-125.2.90.

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Abstract Our bodies are made up of over 250 specific cell types, and all initially arise from stem cells during embryonic development. Stem cells have two characteristics that make them unique: (1) they are pluripotent, meaning that they can differentiate into all cell types of the body, and (2) they are capable of self-renewal to generate more of themselves and are thus able to populate an organism. Human pluripotent stem cells were first isolated from human embryos twenty years ago (Thomson et al., 1998) and more recently, technology to reprogram somatic cells, such as skin and blood, to ind

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Begum, Ruksana, Mehdi Pervez, Farzana Yasmin, Bikash Chandra Nag, Kanij Fatema, and M. Abid Hossain Mollah. "Assessment of physical functioning domain on quality of life of children with cerebral palsy-experience in rural Bangladesh." International Journal of Contemporary Pediatrics 12, no. 7 (2025): 1068–75. https://doi.org/10.18203/2349-3291.ijcp20251856.

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Background: Cerebral palsy (CP) is the most prevalent health condition linked to childhood disability in Bangladesh. This study was intended to evaluate the physical functioning domain of quality of life (QoL) of children with CP using Peds QLTM inventory in a tertiary care hospital. The aim of this study was to find out physical aspects of the child’s QoL by using PedsQLTM inventory (physical, emotional, social, schooling), to identify co-morbidities, socio demographic profile of child and parents and to find out relationship between physical functioning domains of QoL score with types, co-mo

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Ghirardini, Elsa, Francesco Calugi, Giulia Sagona, et al. "The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development." Genes 12, no. 8 (2021): 1123. http://dx.doi.org/10.3390/genes12081123.

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Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatment for CTD and patients need lifelong assistance. Thus, the research of novel intervention strategies is a major scientific challenge. Animal models are an excellent tool to dissect the disease pathogenetic mechanisms and drive the preclinical development of therapeutics. This review illustrates the current knowledge about Cr metabolism and CTD clinical aspe

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Karalis, Vasiliki, and Helen S. Bateup. "Current Approaches and Future Directions for the Treatment of mTORopathies." Developmental Neuroscience 43, no. 3-4 (2021): 143–58. http://dx.doi.org/10.1159/000515672.

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The mechanistic target of rapamycin (mTOR) is a kinase at the center of an evolutionarily conserved signaling pathway that orchestrates cell growth and metabolism. mTOR responds to an array of intra- and extracellular stimuli and in turn controls multiple cellular anabolic and catabolic processes. Aberrant mTOR activity is associated with numerous diseases, with particularly profound impact on the nervous system. mTOR is found in two protein complexes, mTOR complex 1 (mTORC1) and 2 (mTORC2), which are governed by different upstream regulators and have distinct cellular actions. Mutations in ge

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Vorsanova, Svetlana G., Yuri B. Yurov, Irina A. Demidova, et al. "Chromosome 18p deletion syndrome (18p-) in children: the value of cytogenetic and molecular cytogenetic diagnosis." RESEARCH RESULTS IN BIOMEDICINE 7, no. 3 (2021): 257–71. http://dx.doi.org/10.18413/2658-6533-2021-7-3-0-5.

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Chromosome 18p deletion syndrome (18p-) is associated with a loss of chromosomal material of the short arm (partial monosomy); however, the whole short arm is lost in the majority of cases. The frequency of 18p- syndrome is 1:60000. The syndrome is cytogenetically and clinically heterogeneous. The clinical manifestations vary extremely from mild forms with congenital anomalies and developmental delays to severe brain malformations. Rare cases demonstrate epilepsy and autism spectrum disorders. The deletion breakpoints are also variable. Accordingly, the syndrome needs the analysis of large gro

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Vasko, Ashley, Theodore G. Drivas, and Samantha A. Schrier Vergano. "Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome." Genes 12, no. 6 (2021): 937. http://dx.doi.org/10.3390/genes12060937.

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Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11, and SOX4. In order to describe more robust genotype-phenotype correlations, we collected data from 208 individuals from the CSS/BAF complex registry with pathogenic variants in seven of these genes. Data were organiz

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