Academic literature on the topic 'Intellectual disability Genetic aspects'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the lists of relevant articles, books, theses, conference reports, and other scholarly sources on the topic 'Intellectual disability Genetic aspects.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Journal articles on the topic "Intellectual disability Genetic aspects"
1
Kępińska Walczak, Zofia. "Genetic diagnosis of intellectual disability and its ethical aspect." Warszawskie Studia Pastoralne 1, no. 34 (January 1, 2018): 187. http://dx.doi.org/10.21697/wsp.2017.12.1.34.10.
Full textAbstract:
The article presents a reflection on the genetic diagnosis of intellectual disability. Attention was drawn to the moral aspect of genetic testing and it was emphasized that genetic diagnosis must not become an instrument in the implementation of bio-utilitarianism or the concept of wrongful life, according to which, whether a person can be considered a human being, and thus have the right to life, depends on certain factors, and is not self-evident by the very fact of belonging to the human species.
2
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 (June 30, 2022): 55–61. http://dx.doi.org/10.37897/rjp.2022.2.2.
Full textAbstract:
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 disability, low stature, hypopigmentation, motor deficits, seizures, but the early diagnosis and treatment enables almost normal somatic and mental development. Aim. The aim of this study is the determination of the impact of non-genetic factors over the clinical phenotype of PKU patients in a region of north-west Romania. Material and method. The study group is formed from 44 patients diagnosed with phenylketonuria in the 1981 – 2021 period, found in the database of Bihor Regional Center for Medical Genetics, Emergency Clinical County Hospital, Oradea, Romania. The collected data was referring to the age, sex and domicile of the patients, the age of the diagnosis and the beginning of the treatment, also the metabolic control over the years, the metabolic phenotype of the patients and its impact on the clinical phenotype (IQ, the presence or absence of intellectual disability or the existence of a specific clinical phenotype). Results. The majority of patients (66%) were diagnosticated with phenylketonuria in the first 4 months of life, although there were cases with a late diagnosis, 20.5% of the patients were diagnosticated after the age of 1 year. Based on the pre-treatment plasmatic levels of phenylalanine, the majority of cases (72.7%) had a severe metabolic phenotype (classic PKU - cPKU), 20.5% of cases had a milder form of PKU (mPKU) and 6.8% of patients were found with a mild hyperphenylalaninemia (HPA). In the case of 23 patients, an optimal metabolic control was not obtained. The specific phenotype (blonde hair, light skin, blue eyes) was found in 22.7% of cases, 77.3% not having these features. At 68.2% of cases intellectual disability was found, with different levels of severity: 5 patients (11.5%) had liminal intellect, 9 patients (20.5%) had mild mental retardation, 6 patients (13.6%) had moderate mental retardation, 9 cases (20.5%) were with severe mental retardation and 1 patient (2.3%) had profound mental retardation; 31.8% of cases had normal intellect. The prevalence in Bihor county is 1:7,843 newborns. Discussions. A partial or, in rare cases, total lack of dietetic treatment was observed in all patients over 20 years old (current age). The delay in treatment initiation or an insufficient treatment, with a suboptimal metabolic control, will affect patient’s intellect, regardless of metabolic phenotype. If in 20 years old patients, or older, the main reason for mental retardation is the lack of dietetic treatment availability in the first years of life, for the younger patients the reason for mental retardation is usually a lack of compliance with the treatment. The majority of metabolic phenotypes is cPKU, in concordance with the literature data; the mild phenotype (HPA) was observed in a small percentage of patients, smaller than the data reported in the literature. In the first two studied decades the mild phenotypes were seldom observed. In the absence of screening tests or suggestive clinical manifestation it can be assumed that HPA patients remained undiagnosed, which would explain the small HPA percentage in the study group. A significant improvement in metabolic control in younger patients compared with older ones was observed, which denotes a better access to specific alimentation on one side, and o the other side, a better understanding of the disease from the patients and their families. Also, this study confirms a known fact that the diet in PKU is of great importance in the disease evolution. In this study there were included patients with severe metabolic phenotype with good metabolic control which reached adulthood without intellectual deficits, with higher education, social integrated and also patients with mild metabolic phenotype but with a poor metabolic control which developed intellectual deficiency. Conclusions. The PKU prevalence in Bihor county is higher than the estimated national value. The late diagnosis and treatment or the poor metabolic control led to intellectual disability, regardless of the metabolic phenotype. PKU screening and the better access to treatment allows younger generations of patients to enjoy a superior quality of life than the patients from the first two studied decades.
3
Gavril, Eva-Cristiana, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, and Cristina Rusu. "Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review." Children 8, no. 9 (August 30, 2021): 751. http://dx.doi.org/10.3390/children8090751.
Full textAbstract:
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 investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.
4
Cammarata-Scalisi, Francisco, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, et al. "Clinical and Genetic Aspects of Phelan–McDermid Syndrome: An Interdisciplinary Approach to Management." Genes 13, no. 3 (March 12, 2022): 504. http://dx.doi.org/10.3390/genes13030504.
Full textAbstract:
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 PMS is variable, and lacks a distinctive phenotypic characteristic, so the clinical diagnosis should be confirmed by genetic analysis. PMS is a multi-system disorder, and clinical care must encompass various specialties and therapists. The role of risperidone, intranasal insulin, insulin growth factor 1, and oxytocin as potential therapeutic options in PMS will be discussed in this review. The diagnosis of PMS is important to provide an appropriate clinical evaluation, treatment, and genetic counseling.
5
Fragoso, D. C., D. M. Nunes, A. C. M. Maia, L. A. L. Garcia, H. C. B. R. Alves, C. J. da Silva, and C. C. Leite. "What We Should Not Forget about Down Syndrome." Neurographics 11, no. 3 (May 1, 2021): 149–65. http://dx.doi.org/10.3174/ng.2000043.
Full textAbstract:
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. Although the early and timely diagnosis of cognitive decline in patients with varying degrees of intellectual disability has not been an easy task from the clinical point of view, anatomic and functional brain studies have shown an essential role because they allow the early recognition of abnormalities that precede the cognitive decline. Furthermore, the similarities and differences in neuropathologic, genetic, and imaging aspects in patients with Down syndrome have allowed extrapolation for a better understanding of the mechanisms linked to Alzheimer disease development.Learning Objective: To review and systematize the distinctive characteristics and abnormalities of the head and neck, vertebral column, and CNS present in Down syndrome
6
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 (December 14, 2015): 204–10. http://dx.doi.org/10.1108/jidob-08-2015-0021.
Full textAbstract:
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 may be advantages to providing access to a wider multi-disciplinary team, through the application of an integrated model. The purpose of this paper is to illustrate the working of an integrated forensic service within a learning disability team, to identify positive aspects of this model, and how potential shortcomings may be overcome. Design/methodology/approach – Literature review, description of service outline with case example. Findings – Although some studies have compared parallel and integrated forensic models within mental health services, there are no evaluations that compare models of forensic services for individuals with intellectual disabilities. However, specific advantages of an integrated model may include availability of multi-disciplinary clinicians, development of forensic skills across wider groups of clinicians, reduction in stigma and avoidance of delay in transfer of care between services. In addition, in areas with smaller populations, parallel services may not be feasible due to low case numbers. Originality/value – There has been no formal evaluation of parallel vs integrated forensic services within an intellectual disability setting. However, the authors describe a fully integrated service and suggest means by which the potential shortcomings of an integrated model may be overcome.
7
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 (March 6, 2019): 160–79. http://dx.doi.org/10.1177/1046878119834319.
Full textAbstract:
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, including the involvement (in various roles) of children with a rare genetic syndrome (PWS) in the development and evaluation of the software (participatory design) and the development of a matched control, or placebo version of the game for use in the pilot evaluation. Results. Children with PWS were capable of contributing to the design and development of a cognitive training game in various roles. In the subsequent pilot evaluation, playing the active version of the game was associated with greater improvement in task switching performance than playing the matched control (placebo) version of the game. However, attrition was an issue during both the design phase and the pilot evaluation. Conclusions. The lessons learned from our work have relevance in a wide range of contexts, such as the development of future cognitive training games; the evaluation of serious games in general; and the involvement of end-users with cognitive disabilities and/or rare syndromes in the design and development of software.
8
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 (June 2017): S32. http://dx.doi.org/10.1017/cjn.2017.158.
Full textAbstract:
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 surveys were returned to date. Although 54% of the patients reported motor delay, none of the patients had myopathy investigations. The index patient, presented at 1 year old, with hypotonia and developmental delay. Pregnancy and family history were unremarkable. Investigations revealed high CK levels (range 300 to 500 U/L), EMG confirmed myopathic motor units, and muscle biopsy showed type 1 fibre predominance. Single gene sequencing revealed pathogenic mutations of ZEB2, confirming a diagnosis of MWS. Conclusions: The description of myopathic features expands the spectrum of this rare syndrome and adds to the differential diagnosis of hyperCKemia in early childhood.
9
Di Stefano, Vincenzo, Marianna Gabriella Rispoli, Noemi Pellegrino, Alessandro Graziosi, Eleonora Rotondo, Christian Napoli, Daniela Pietrobon, Filippo Brighina, and Pasquale Parisi. "Diagnostic and therapeutic aspects of hemiplegic migraine." Journal of Neurology, Neurosurgery & Psychiatry 91, no. 7 (May 19, 2020): 764–71. http://dx.doi.org/10.1136/jnnp-2020-322850.
Full textAbstract:
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 process of typical migraine with aura, but appearing with a lower threshold and more severity. We reviewed epidemiology, clinical presentation, diagnostic assessment, differential diagnosis and treatment of HM to offer the best evidence of this rare condition. The differential diagnosis of HM is broad, including other types of migraine and any condition that can cause transitory neurological signs and symptoms. Neuroimaging, cerebrospinal fluid analysis and electroencephalography are useful, but the diagnosis is clinical with a genetic confirmation. The management relies on the control of triggering factors and even hospitalisation in case of long-lasting auras. As HM is a rare condition, there are no randomised controlled trials, but the evidence for the treatment comes from small studies.
10
Atli, Emine Ikbal, Engin Atli, Sinem Yalcintepe, Selma Demir, Cisem Mail, Damla Eker, Yasemin Ozen, and Hakan Gurkan. "Clinical Features of Aberrations Chromosome 22q: A Pilot Study." Global Medical Genetics 09, no. 01 (November 9, 2021): 042–50. http://dx.doi.org/10.1055/s-0041-1739496.
Full textAbstract:
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 were referred for genetic analysis (Karyotyping, MLPA, array-CGH) during January 2015 to February 2020 because of intellectual deficiency, behavior issues, and/or multiple congenital abnormalities in several genetics departments. Informed consent was obtained from all the patients and/or their parents. Results 22q11.21 or 22q13.33 microdeletions and 22q11.22-q11.23 microduplication were identified in 31 patients out of referrals. The 22q aberrations were detected in 31/998 patients, giving a prevalence of 3.1%. In this study, 18 patients with 22q11.2 (LCR22A-H) deletion, three patients with 22q13.31 deletion, 9 patients with 22q11.2 duplication and one patient with 22q13.31 duplication were identified. We report on the clinical and molecular characterization of 31 individuals with distal deletions and duplications of chromosome 22q. Conclusions The current study demonstrated in the largest postnatal case series reporting the whole spectrum of atypical phenotypic and genotypic variations at 22q. We believe that when all the phenotypic differences are taken into account, various anomalies including developmental delay and intellectual disability might be considered as an indication to search for aberrations of 22q along with congenital heart diseases.
Dissertations / Theses on the topic "Intellectual disability Genetic aspects"
1
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.
Full text
2
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.
Full textAbstract:
(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) intellectual disability co-occurring with psychiatric illness. This thesis has a special interest in the relationship between intellectual disability and schizophrenia. Where data and sample sizes permit, it explores that relationship at some depth and has included sections on the putative nature of the link between intellectual disability and schizophrenia in the introductory and discussion chapters. To realise its objectives, the thesis comprises a core study focusing on aims (i) (iii) and a supplementary study whose focus is aim (iv). It also draws on work from an ancillary study completed prior to the period of candidacy...This thesis found that, overall, 31.7% of persons with an intellectual disability had a psychiatric illness; 1.8% of persons with a psychiatric illness had an intellectual disability. The rate of schizophrenia, but not bipolar disorder or unipolar major depression, was greatly increased among cases of conjoint disorder: depending on birth cohort, 3.7-5.2% of individuals with intellectual disability had co-occurring schizophrenia. Down syndrome was much less prevalent among conjoint disorder cases despite being the most predominant cause of intellectual disability while pervasive developmental disorder was over-represented. Persons with conjoint disorder had a more severe clinical profile including higher mortality rates than those with a single disability. The supplementary study confirmed the findings in the core body of work with respect to the extent of conjoint disorder, its severity, and its relationship with pervasive development disorder and Down syndrome. Moreover, the supplementary study and the ancillary influenza study indicated a role for neurodevelopmental insults including obstetric complications in the adverse neuropsychiatric outcomes, with timing of the insult a potentially critical element in defining the specific outcome. The supplementary study also added new information on familiality in intellectual disability. It found that, in addition to parental intellectual disability status and exposure to labour and delivery complications at birth, parental psychiatric status was an independent predictor of intellectual disability in offspring as well as a predictor of conjoint disorder. In conclusion, the facility to collect and integrate records held by separate State administrative health jurisdictions, and to analyse them within the one database has had a marked impact on the capacity for this thesis to estimate the prevalence of conjoint disorder among intellectually disabled and psychiatric populations, and to understand more about its clinical manifestations and aetiological underpinnings.
3
Mattioli, Francesca. "Identification of novel genetic causes of monogenic intellectual disability." Thesis, Strasbourg, 2018. http://www.theses.fr/2018STRAJ035/document.
Full textAbstract:
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 patients avec DI et identifié plusieurs nouvelles mutations (dans AUTS2, THOC6, etc) et nouveaux gènes (BRPF1, NOVA2, etc) impliqués dans la DI. Pour les moins caractérisés, j'ai effectué des investigations fonctionnelles pour valider leur pathogénicité, caractériser les mécanismes moléculaires qu'ils affectent et identifier leur rôle dans cette maladie. Mes travaux de doctorat permettront d’améliorer et d’accélérer la possibilité d’obtenir un diagnostic moléculaire qui donnera accès à un meilleur suivi et à une meilleure prise en charge pour les patients. Cela permettra également de mieux comprendre les mécanismes physiopathologiques impliqués dans ces troubles neuro développementaux. Ces connaissances aideront éventuellement à identifier de nouvelles cibles thérapeutiquesIntellectual disability (ID) is a group of neurodevelopmental disorders characterized by an extreme genetic heterogeneity, with more than 700 genes currently implicated in Mendelian forms of ID but still some are not yet identified. My PhD project investigates the genetic causes of these monogenic ID by using and combining different NGS techniques. By using this strategy, I reached a relative high diagnostic yield and identified several novel mutations (in AUTS2, THOC6) and genes (BRPF1, NOVA2, etc) involved in ID. For the less characterized ones, I performed functional investigations to prove their pathogenicity, delineate the molecular mechanisms altered and identify their role in this disease. Overall, this work improved and provided new strategies to increase the molecular diagnosis in patients with ID, which is important for their healthcare and better management. Furthermore, the identification and the characterization of novel mutations and genes implicated in ID better delineate the implicated pathophysiological mechanisms, opening the way to potential therapeutic targets
4
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.
Full textAbstract:
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 with epilepsy. This work led to the identification of several DNVs in both new and known disease genes, including the first report of variation in the HECW2 gene in association with neurodevelopmental disorder and epilepsy. Paper II is the first independent validation of PIGG as a disease-causing gene in patients with developmental disorder. We used WES to identify the homozygous variation in PIGG, and transcriptome analysis as well as flow-cytometry studies were used to validate the pathogenicity of the PIGG variation. We discovered that PIGG variation give different effects in different cell types, contributing new insights into the disease mechanism. Paper III is also an application of WES in trio families with patients diagnosed with ID in order to identify causal variants, a strategy similar to that of Paper I. Several pathogenic variants were identified in this study; in particular, the gene NAA15 is highlighted as a new disease gene, and was recently confirmed in independent studies. This study also adds evidence to support that variation in the PUF60 gene is causing the symptoms in patients with Verheij syndrome. In Paper IV, WGS was used to analyze families with consanguineous marriages. All families in this study had been previously analyzed with WES without finding a disease cause. A number of new disease-causing variants were identified in the study, including a first validation of FRMD4A as a disease-associated gene. This study also shows that WGS performs better than WES in finding variants, even for variants in coding parts of the genome.
5
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.
Full text
6
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/.
Full textAbstract:
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 carried out into the genetic basis of ID and SZ. The ID project was focused on ID in consanguineous families recruited in Oman. Next generation sequencing allowed the identification of apparently causative mutations in three out of the six families recruited. The mutations are all novel, although some of them occur in previously associated ID genes. The known ID genes in which novel mutations were identified are TUSC3 (NM_006765: exon2:c.222delA, p.R74 fs) and NHS (NM_198270:exon8: c.C4385G, p.S1462C). A novel LHFPL5 variant (NM_182548:exon2:c.T575C, p.L192P) was also identified in an ID family with hearing loss. In one ID family, mutations in two genes not previously associated with ID were found: ANKRD2 (NM_001129981:exon8:c.C883T, p.R295W) and PDZD8 (PDZD8:NM_173791: exon5:c.2197_2200del, p.733_734del). The SZ project was focused on two SZ families recruited in the UK. Preliminary work on these families had suggested the involvement of homozygosity for genetic variants in the DFNB31 gene and in a region of Chr13q in the pathogenesis of schizophrenia. Further experiments to validate the initial findings included testing the overexpression of the DFNB31 variant (R450C) in the SH-SY5Y cell line, pull-down assay and transcript analysis of the genes located at Chr13q. Identification of the causative mutated gene is an important step in understanding more about the biology of ID and SZ. It also facilitates carrier testing and genetic counselling, and identifies a pathway for potential therapeutic intervention.
7
Lutter, Andrea Elizabeth. "The Impact of Rosa's Law on Describing Persons with Intellectual Disability." Case Western Reserve University School of Graduate Studies / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=case1398193968.
Full text
8
Turnbull, David John. "Towards a collaborative ethic in intellectual disability services." Thesis, Queensland University of Technology, 1998.
Find full textAbstract:
This thesis examines collaboratively impoverished frameworks currently existing in services, and then presents a framework within which it is possible to work towards an ethically informed, collaborative engagement between people who have as a common interest, a person with an intellectual disability. The thesis explores three themes that are of great significance to both service providers and other participants in their relation to people with intellectual disability - those of personal identity, advocacy and self-advocacy. The relative impotence of service providers in being able to deal with structural problems concerning these themes, in the absence of a genuinely collaborative endeavor which is driven from an adequately resourced and motivated community base, is demonstrated. Critiques of services offered from philosophical positions are considered. Service models and philosophies adopted as a response to these critiques demonstrate, in their application, the difficulties that services have in operationalizing a pro-active ethical agenda. In considering these philosophies, the power and the role of services in constructing and maintaining devaluing and oppressive meanings associated with the phrase '0person with an intellectual disability' itself, is emphasised. Various ethical discourses are examined and it is shown that these, when undertaken within frameworks of understanding which take the autonomous, rational individual as the subject of the discourse, fail to offer sufficient guidance in the pursuit of the wellbeing of, and respect for, people with intellectual disability. This poses a central issue that any collaborative engagement between stakeholders needs to decide - the status as persons of people with intellectual disability.
The issue of ambivalence towards this status, which services seem to perpetuate, poses the central practical question: how is it possible to decisively resolve this ambivalence in favour of the full personhood and humanity of those who are labeled as having intellectual disability? A current service philosophy, Social role Valorisation (SRV), is discussed in considerable detail, to demonstrate the need for this philosophy to be situated in an explicitly ethical framework, in which personhood is acknowledged in all its strangeness, difference and relational diversity, if it is to be utilised collaboratively. The explicit socially normative under-pinning of SRV is shown to reinforce the 'non-person' status of those who fail to meet these normative criteria for acceptance. Thus SRV may on occasions be instrumentally directed to harmful outcomes. The intent of SRV is to protect the life of devalued people, as persons, so there is a need for a more explicitly ethical formulation. The contention of the thesis is that the nature of 'what is valued' with and for people with intellectual disability may only be determined collaboratively, in the context of relationships which give recognition to their intrinsic value as persons, not by reference to some abstract set of social norms. What this intrinsic value is however, can not be according to the attributes selected by some philosophers - autonomy and rationality - as being the essential defining characteristics of persons. Rather, intrinsic value must be a relational concept, derived from those who have a relationship with those with intellectual disability, directed to their respect and wellbeing. for a person with an intellectual disability, to be in relationship with people of such favourable dispositions is of vital importance. Yet it is also important that such people are afforded the recognition, from those less intimately involved, but who exercise power in the situation, that these relationships are the basis for defining social space and place for people who do not fit easily into the system. To be a person with intellectual disability therefore is dependent on the right to be in relationships of interdependency with others, and not be excluded socially as 'defective' because one is not autonomous. The nature of this interdependency, this anti-individualism, as a valid expression of humanity can only be supported through a collaborative engagement.
9
Casha, Sonja. "Speaking of angels : intellectual disability, identity and further education in Malta." Thesis, University of Birmingham, 2016. http://etheses.bham.ac.uk//id/eprint/6601/.
Full textAbstract:
The number of students with intellectual disabilities who continue studying past compulsory education in Malta is abysmal. This has spurred the choice of my research which aims to identify the factors that affect this phenomenon. This study uses first-hand accounts by individuals with intellectual disabilities on their experience of further education (FE) in Malta and attempts to highlight the associated benefits and barriers experienced. The results of this study have shown that although factors affecting FE inclusion in Malta are varied, the participants of the study focused primarily on the negative barriers arising from past school experience. The level of bullying and isolation experienced in mainstream school environments is considered a predominant factor in the choice of not pursuing FE. Another emerging factor is the lack of choice for students with intellectual disabilities to stand by their own wishes including the choice of whether or not to enter FE. This is considered to be due to an entrenched paternalistic attitude inherent in Maltese society which may originate from the island’s Catholic roots. These socio-cultural attitudes relegate people with intellectual disabilities to passive receivers of charity. It is perhaps these same attitudes that limit the accessibility also within FE in Malta as reported by the study participants. These factors are seen as playing a significant part in the reasons for such low participation of students with intellectual disabilities in FE locally. These barriers limit the opportunities for this student cohort to enjoy the benefits of FE which were identified primarily to be social integration, employment and independence.
10
Shaw, Rebecca. "Hyperactive, impulsive, distractible and inattentive behaviour in children with genetic syndromes associated with intellectual disability." Thesis, University of Birmingham, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.485988.
Full textBooks on the topic "Intellectual disability Genetic aspects"
1
Louhiala, Pekka. Preventing intellectual disability: Ethical and clinical issues. Cambridge, UK: Cambridge University Press, 2004.
Find full text
2
Nurnberger, John I. Psychiatric genetics. London: Chapman & Hall Medical, 1998.
Find full text
3
Berrettini, Wade, and John I. Nurnberger. Principles of psychiatric genetics. Cambridge: Cambridge University Press, 2012.
Find full text
4
1946-, Pennington Bruce Franklin, ed. Reading disabilities: Genetic and neurological influences. Dordrecht: Kluwer Academic, 1991.
Find full text
5
Carlson, Licia. The faces of intellectual disability: Philosophical reflections. Bloomington: Indiana University Press, 2010.
Find full text
6
Carlson, Licia. The faces of intellectual disability: Philosophical reflections. Bloomington: Indiana University Press, 2010.
Find full text
7
Carlson, Licia. The faces of intellectual disability: Philosophical reflections. Bloomington: Indiana University Press, 2010.
Find full text
8
Carlson, Licia. The faces of intellectual disability: Philosophical reflections. Bloomington: Indiana University Press, 2010.
Find full text
9
The faces of intellectual disability: Philosophical reflections. Bloomington: Indiana University Press, 2010.
Find full text
10
Choosing children: Genes, disability, and design. Oxford: Clarendon Press, 2006.
Find full textBook chapters on the topic "Intellectual disability Genetic aspects"
1
Carpenter, Peter. "Mental Health Aspects of Autism Spectrum Disorders." In Intellectual Disability Psychiatry, 85–99. Chichester, UK: John Wiley & Sons, Ltd, 2009. http://dx.doi.org/10.1002/9780470682968.ch7.
Full text
2
Kaufmann, Walter E., George T. Capone, Megan Clarke, and Dejan B. Budimirovic. "Autism in Genetic Intellectual Disability." In Autism, 81–108. Totowa, NJ: Humana Press, 2008. http://dx.doi.org/10.1007/978-1-60327-489-0_4.
Full text
3
Carlier, Michèle, and Pierre L. Roubertoux. "Genetic and Environmental Influences on Intellectual Disability in Childhood." In Behavior Genetics of Cognition Across the Lifespan, 69–101. New York, NY: Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-7447-0_3.
Full text
4
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, 308–34. Oxford, UK: Wiley-Blackwell, 2010. http://dx.doi.org/10.1002/9781444327588.ch12.
Full text
5
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, 52–81. New York, NY : Routledge, 2017.: Psychology Press, 2017. http://dx.doi.org/10.4324/9781315283531-2.
Full text
6
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, 205–21. Dordrecht: Springer Netherlands, 2010. http://dx.doi.org/10.1007/978-90-481-9650-0_13.
Full text
7
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.
Full textAbstract:
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 with behavioral phenotypes include (1) Down syndrome, (2) Velocardiofacial syndrome, (3) Smith-Magenis syndrome, (4) Turner syndrome, (5) Rett’s disorder, (6) Lesch-Nyhan syndrome, (7) Prader-Willi and Angelman syndromes, (8) fragile X syndrome, and (9) Williams syndrome. Each of these neurogenetic disorders involves a different genetic mechanism and provides a portal to understand neurodevelopment. A disorder that is environmentally induced, fetal alcohol syndrome, is also discussed and it, too, may provide a key to understanding aspects of the developing brain (Ikonomidou et al., 2000). The first description of behavior associated with an intellectual disability syndrome was by Down (1887). In describing the syndrome that bears his name, Down observed that “They have considerable powers of imitation, even bordering on being mimics. Their humorousness and a lively sense of the ridiculous often color their mimicry.” Later, he added: “Several patients who have been under my care have been wont to convert their pillow cases into surplices (vestments) and to imitate, in tone and gesture, the clergymen or chaplain which they have recently heard.” He also commented on personality traits, saying that “Another feature is their great obstinacy—they can only be guided by consummate tact.” Although these stereotypes were not confirmed in subsequent studies (Gath and Gumley, 1986; Gunn, Berry, and Andrews, 1981), the prospect of linking behavior and genetics was introduced in this first description of a neurogenetic disorder. Subsequent early clinical descriptions, such as that of tuberous sclerosis complex by Critchley and Earl (1932), identified peculiar, and severe, behavioral problems in children and adult with that condition.
8
Schwartz, Charles E., Fiorella Gurrieri, and Giovanni Neri. "Intellectual Disability Syndromes." In Neurobiology of Mental Illness, edited by Joseph D. Buxbaum, 1010–21. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199934959.003.0076.
Full textAbstract:
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 diagnosis in a significant proportion of individuals with such forms of ID. Clinical evaluation remains the most effective means by which a clinician can prioritize diagnostic approaches to pursue for an individual with ID. This chapter briefly describes the clinical aspects of selected ID syndromes, grouped by the mode of inheritance. The selection was done with the goal of illustrating better known as well as less well known molecular pathways and cellular compartments whose disruption results in ID in association with additional clinical features. These pathways and compartments represent important modules for study using neurobiological methods, and for improved neuronal and neural systems-level understanding of the biology of typical brain function and of the pathophysiology of mental illness.
9
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, 23–34. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198794585.003.0003.
Full textAbstract:
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 postnatal) and the type of cause. Genetic factors include chromosomal disorders, microdeletions, single gene disorders and newly discovered mechanisms such as copy number variations. Environmental factors may operate in prenatal, perinatal, or postnatal periods of development. Pathophysiological pathways leading to ID involve disruption of neurodevelopment and neuronal functioning, such as neural proliferation, migration, connectivity, synaptic development, intra- and inter-cellular signalling pathways, and metabolism. Identifying the aetiology has major clinical implications.
10
Kaski, Markus. "Aetiology of intellectual disability: general issues and prevention." In New Oxford Textbook of Psychiatry, 1830–38. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199696758.003.0243.
Full textAbstract:
Intellectual disability can follow any of the biological, environmental, and psychological events that are capable of producing a decline of cognitive functions. Some factors do not directly or inevitably cause intellectual disability but add to the effects of a previous primary cause. Genetic causes may be hereditary or non-hereditary, and may or may not produce specific syndromes. Some lead to inborn errors of metabolism. Causation, how to assess cause, and why knowledge of causation is important is covered in detail, followed by primary, secondary, and tertiary prevention, ethical problems of prevention, and the important of taking preventive aspects into account in all general and specific legislation, in operating procedures, and professional practice.
Conference papers on the topic "Intellectual disability Genetic aspects"
1
Bezerra, Rebeka Ellen de Alencar, Agda Yasmim Ferreira Correia, Héryka Wanessa do Nascimento Rolim, Júlia Ondrusch de Moraes Costa, Maressa Ferreira de Alencar Rocha, Palloma Abreu Tavares, and Alinne Beserra de Lucena Marcolino. "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.
Full textAbstract:
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 disability” AND “Refractory epilepsy” with the filter: “full text”. Results: From the 27 articles found, 2 were excluded for escaping the theme, having 25 articles as a final corpus and 2 thematic axes identified: (I) Genetic aspects related to ID and refractory epilepsy and (II) Therapeutic interventions in these patients. According to studies, refractory epilepsy in people with ID is related to mutations in some genes, such as: PCDH19, FMR1, TDP2, GABRB2 and SLC9A6. As for therapies for these patients, drugs such as stiripentol, lacosamide and benzodiazepines have been used, in addition to other interventions such as vagus nerve therapies, responsive neural stimulation, ketogenic diet, immunotherapy and resection surgery. Conclusions: The ID association with refractory epilepsy is strongly linked to genetic mutations, being essencial the genetic diagnosid to individualize the treatment and overcome insuficiente therapies for this epilepsy, especially in patients with associated ID, who tend to have a reduced life quality, having as primary objective the improvement of it.
2
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.
Full text
3
Machado, Roberta Ismael Lacerda, Bruno de Mattos Lombardi Badia, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, José Marcos Vieira de Albuquerque Filho, Paulo Victor Sgobbi de Souza, and Acary Souza Bulle Oliveira. "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.
Full textAbstract:
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 with INPP5KCMD with cataracts and intellectual disability under clinical follow-up at our service. Results: Case 1: 39 years old, female, presenting with progressive leg weakness since childhood, mild intellectual disability and bilateral cataracts at 20 years. Her 35-yearold sister (Case 2) had a similar clinical picture with limb-girdle weakness since childhood, cognitive impairment and early- onset bilateral cataracts. Both with myopathic pattern in EMG, elevated creatine phosphokinase (CK) and dystrophic pattern in muscle biopsy. Brain MRI studies disclosed a large megacistern in the elderly and no abnormalities in the younger sister. Genetic testing: c.653_655del(p.(Ser218del) in homozygosity in INPP5K gene. Case 3: 20 years old, female, normal motor development but learning difficulties since childhood. Presented with progressive pelvic girdle weakness in childhood and bilateral cataracts in late adolescence. Exams disclosed elevated CK, brain MRI was normal and genetic testing with the following mutation in INPP5K gene:c.[881_883del];[1088T>C];p.[Ser294del];[Ile363Thr]. Conclusion: We describe patients with CMD, cataracts and intellectual disability, caused by mutation in the INPP5K gene. In literature few cases are reported.
4
Melo Neto, Fernando de Paiva, Artêmio José Araruna Dias, Marinna Karla da Cunha Lima Viana, Maurício Vasconcelos Valadares Neto, Paulo Francisco Lucena de Araújo Espínola, Bruna Nadiely Victor da Silva, Isabella Araújo Mota Fernandes, and Rafael de Souza Andrade. "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.
Full textAbstract:
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, has motor stereotypes when agitated, preferably plays with younger children, has tactile (water), taste (food) and sound sensory dysfunction, a low frustration threshold, difficulty in accepting routine changes and BMI of 14. Genetic evaluation showed interstitial triplication of 610Kb in the short arm of chromosome 16, raising diagnostic hypotheses of ASD and ID. Conclusions: Changes in microduplication in this locus are predisposing genetic factors for neurodevelopmental delays, ASD and ID. Changes in the number of 16p11.2 copies are believed to promote BMI index body change and brain changes in a dose-dependent manner on the phenotype. Brain changes include areas associated with reward, language and cognition. We bring this case to bring attention and discussion about to this rare condition.
5
Moura, Ludmila Sandy Alves, André Taumaturgo Cavalcanti Arruda, and Mário Luciano de Melo Silva Júnior. "Case Report of Tuberous Sclerosis with early West Syndrome." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.542.
Full textAbstract:
Context: We present a patient diagnosed with Tuberous Sclerosis (TS) who developed West Syndrome (WS) early on. Early diagnosis of TS is important for genetic counseling and WS requires early intervention to avoid neurodevelopmental deficits. Case report: Y.S.L.C., female, 45 days old, presented cardiac rhabdomyoma and 9 hypomelanotic lesions, being diagnosed with TS. At 2 months old, she presented epileptic seizures of flexion spasms, which progressed in 1 week to neuropsychomotor development (NP) regression and hypsarrhythmia. She was diagnosed with WS and treated with vigabatrin. There was suppression of hypsarrhythmic pattern at 8 months old. Currently 8 years old, she has hypochromic stains, hemangiomyolipomas in the right kidney, bilateral renal cysts, sebaceous adenomas, facial angiofibromas, cortical tubers, subependymal nodules, Intellectual Disability and Focal Epilepsy. Conclusions: ET is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes leading neurodevelopmental changes and cellular hyperplasias. TE diagnosis is clinical, based on major (such as facial angiofibromas, nail fibroma and hypopigmented macules) and minor criteria and molecular tests in doubtful cases. TE is associated with epilepsy in 80-90% of cases (30 to 50% of infantile spasms). WS is an encephalopathy of infantile spasms, NP arrest/regression and hypsarrhythmia. Early diagnosis and use of anti-epileptic drugs are necessary to avoid cognitive impairment.
6
Adnan, Nor Hafizah, Helmi Norman, and Norazah Mohd Nordin. "Augmented Reality-based Learning using iPads for Children with Autism." In Tenth Pan-Commonwealth Forum on Open Learning. Commonwealth of Learning, 2022. http://dx.doi.org/10.56059/pcf10.8622.
Full textAbstract:
The Covid-19 pandemic outbreak forced early childhood programs to make a sudden switch to remote learning in response to the crisis. While technologies can facilitate seamless migration of face-to-face learning to a virtual platform, these rapid advancements are merely tailored for typical children, causing children with special needs, including children with autism, to be left behind. To date, the prevalence of children across the globe diagnosed with autism spectrum disorders (ASD) has been increasing. ASD refers to complex neurodevelopment disorders characterized by intellectual disability, language impairment, characteristic and repetitive behaviours, and difficulties with interaction and social communication. Some children with ASD are capable perform all learning activities, but most of them require substantial support to perform basic learning activities. Previous studies found that children with ASD have difficulty understanding spoken language, but they have a strong interest in visual objects. Most of their learning occurs through watching since a visual process produced better recall than auditory learning. In other words, the visual channel could be the best way to develop their cognitive abilities and enhance their spoken language capabilities. Augmented reality (AR) is a technology in which audio, visual, and text are superimposed on the real world using mobile devices. AR is a promising technology that could help children with ASD better understand the world around them, bridging digital and physical worlds. Hence, the purpose of this study was to design, develop, and evaluate an immersive learning environment using AR for children with ASD. This study applied the design and development research approach that involved analysis, design and development, implementation and evaluation. The AR involved aspects, such as attention and positive emotions, social interaction, facial expressions, nonverbal social cues, and vocabulary that are crucial in the design and development of learning for children with ASD.