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Start Over Descriptor "Genetic syndromes" Publication Type Electronic Resources
6 results on '"Genetic syndromes"'

1. An exploration of the psychological and behavioural profile of specific genetic syndromes, including Malan Syndrome and Sotos Syndrome

Author

Goulding-Talbot, Josh

Subjects
Autism Spectrum Disorder (ASD), Anxiety, genetic syndromes, Malan Syndrome, Sotos Syndrome, thesis
Abstract

The current thesis aimed to explore the psychological and behavioural profile of specific genetic syndromes. This was achieved by a systematic literature review and meta-analysis of the prevalence rate of several genetic syndromes, as well as an empirical study into autism spectrum disorders and anxiety in Malan Syndrome and Sotos Syndrome. Systematic literature review and meta-analysis: A systematic literature review and meta-analysis was conducted to investigate the association between ADHD and genetic neurodevelopmental syndromes. A pooled estimate was calculated using a random effects model and heterogeneity between studies was explored. The estimate across syndromes was estimated at 0.34 (95% CI 0.30 - 0.37) and high heterogeneity was identified. Different analyses were conducted to try to identify potential causes of high heterogeneity and prevalence rate estimates were recalculated as an attempt to correct for this. The genetic syndrome with the highest uncorrected estimate was seen in Fragile X, with an estimate of 0.47 (95% CI 0.38 - 0.57), and the lowest was seen in Turner Syndrome, with an estimate of 0.18 (95% CI 0.08 - 0.28). Research report: Anxiety and Autism Spectrum Disorder (ASD) traits have been associated with Sotos syndrome and Malan syndrome ("Sotos syndrome 2"). However, research in both are limited and the profile of difficulties has not been previously fully explored. Parents/caregivers of 15 children with Malan syndrome and 9 children with Sotos syndrome completed an online survey and results were compared with existing data to explore the specific profile of difficulties in both syndrome groups. Results suggested ASD may be characteristic of Malan syndrome although not to the same extent as Sotos syndrome and idiopathic ASD. Similar levels of anxiety were seen in Malan syndrome and idiopathic ASD although this was lower than seen in Sotos syndrome. The study concludes that both ASD and anxiety may be characteristic of Malan syndrome, although potentially not to the same extent as in Sotos syndrome.

Published
2021
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2. Movement disorders and catatonia-like presentations in rare genetic syndromes

Author

Handley, Louise, Wittkowski, Anja, and Danquah, Adam

Subjects
362.19685, rett syndrome, angelman syndrome, fragile x syndrome, cornelia de lange syndrome, intellectual disabilities, movement, genetic syndromes, catatonia
Abstract

The prevalence of Autism Spectrum Disorder (ASD) and its defining features has been increasingly investigated in genetic syndromes associated with intellectual disability, with syndrome specific profiles reported. The experience of catatonia and other movement disorders in people with ASD has been increasing highlighted within both research and diagnostic guidelines. However, these issues have not typically been investigated alongside other features of ASD within research into genetic syndromes. The first paper in this thesis provides a review of the literature on movement disorders in genetic syndromes associated with ASD, which focuses on the prevalence of reported movement disorders, the methods of assessment used, and the quality of research to date. An empirical study is reported in Paper 2. Within a cohort of individuals with Cornelia de Lange and Fragile X syndromes the prevalence of attenuated behaviour [autistic catatonia] is examined, based on parent/carer report, and the extent to which features of ASD predict later attenuated behaviour is investigated. Paper 3 provides a critical reflection on the first two papers as well as some wider considerations on undertaking research in this area. The results of both the literature review and the empirical study indicated that across a number of genetic syndromes (Angelman syndrome, Cornelia de Lange syndrome, Fragile X syndrome and Rett syndrome) attenuated behaviour [autistic catatonia] and/or movement disorders affect a substantial proportion of individuals. Furthermore, repetitive behaviours, one of the characteristic features of ASD, appear to predict later attenuated behaviour in Cornelia de Lange and Fragile X syndromesThe results presented in this thesis have important implications for the way services support individuals with specific genetic syndromes. Paper 1 confirms the high prevalence of movement problems in Angelman and Rett syndromes, and Paper 2 provides a new insight into movement problems in Cornelia de Lange and Fragile X syndromes. Movement disorders are reported to impact negatively on wellbeing and quality of life in people with ASD, and are likely to have a similar impact on the lives of people with genetic syndromes. Greater awareness and recognition of movement problems in CdLS and FXS is required, and although specialist services may already be aware of some of the above issues, there should be an increased emphasis on ensuring that community services are aware of the needs of individuals with genetic syndromes, including the implications of movement problems for support needs and quality of life.

Published
2016

3. Evaluating Sleep Disturbances in Children With Rare Genetic Neurodevelopmental Syndromes.

Author

Veatch, Olivia J and Veatch, Olivia J

Abstract

BackgroundAdequate sleep is important for proper neurodevelopment and positive health outcomes. Sleep disturbances are more prevalent in children with genetically determined neurodevelopmental syndromes compared with typically developing counterparts. We characterize sleep behavior in Rett (RTT), Angelman (AS), and Prader-Willi (PWS) syndromes to identify effective approaches for treating sleep problems in these populations. We compared sleep-related symptoms across individuals with these different syndromes with each other, and with typically developing controls.MethodsChildren were recruited from the Rare Diseases Clinical Research Network consortium registries; unaffected siblings were enrolled as related controls. For each participant, a parent completed multiple sleep questionnaires including Pediatric Sleep Questionnaire (Sleep-Disordered Breathing), Children's Sleep Habits Questionnaire (CSHQ), and Pediatric Daytime Sleepiness Scale.ResultsSleep data were analyzed from 714 participants, aged two to 18 years. Young children with AS had more reported sleep problems than children with RTT or PWS. Older children with RTT had more reported daytime sleepiness than those with AS or PWS. Finally, all individuals with RTT had more evidence of sleep-disordered breathing when compared with individuals with PWS. Notably, typically developing siblings were also reported to have sleep problems, except for sleep-related breathing disturbances, which were associated with each of the genetic syndromes.ConclusionsIndividuals with RTT, AS, and PWS frequently experience sleep problems, including sleep-disordered breathing. Screening for sleep problems in individuals with these and other neurogenetic disorders should be included in clinical assessment and managements. These data may also be useful in developing treatment strategies and in clinical trials.

Published
2021

5. Writing abilities in intellectual disabilities: A comparison between Down and Williams syndrome

Abstract

Writing is a complex task that requires the integration of multiple cognitive, linguistic, and motor abilities. Until now, only a few studies investigated writing abilities in individuals with Intellectual Disability (ID). The aim of the present exploratory study was to provide knowledge on the organization of writing in two populations with ID, Down syndrome (DS) and Williams syndrome (WS), trying to disentangle different components of the process.A battery tapping diverse writing demands as low-level transcription skills as well as high-level writing skills was proposed to 13 individuals with WS, 12 individuals with DS and 11 mental-age-matched typically developing (TD) children.Results showed that the two groups with genetic syndromes did not differ from TD in writing a list of objects placed in bedroom, in the number of errors in the text composition, in a text copying task and in kind of errors made. However, in a word dictation task, individuals with DS made more errors than individuals with WS and TD children. In a pseudoword dictation task, both individuals with DS and WS showed more errors than TD children.Our results showed good abilities in individuals with ID in different aspects of writing, involving not only low-level transcription skills but also high-level composition skills.Contrary to the pessimistic view, considering individuals with ID vulnerable for failure, our results indicate that the presence of ID does not prevent the achievement of writing skills.

Published
2015

6. Challenging behavior: Behavioral phenotypes of some genetic syndromes

Author

Buha, Nataša and Buha, Nataša

Abstract

Challenging behavior in individuals with mental retardation (MR) is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible) problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in the creation of targ, Problemi ponašanja kod osoba s mentalnom retardacijom (MR) su relativno česti i značajna su prepreka njihovom adaptivnom funkcionisanju. Učestalost, specifični oblici i manifestacije problema ponašanja mogu zavisiti od niza ličnih i činilaca sredine. U razmatranju etiologije problema ponašanja i psihopatologije kod osoba sa MR preovladava nekoliko teorijskih modela: bihejvioralni, razvojni, sociokulturološki i biološki. Biološki model ističe fiziološke, biohemijske i genetske faktore kao moguće uzročnike problema ponašanja. Napretkom na polju genetike i neuronauka otvorila se mogućnost proučavanja i otkrivanja neurobioloških osnova fenotipskih karakteristika. Kod genetskih sindroma praćenih MR može da se ispolji određena grupa problema i poremećaja koji čine njihov bihejvioralni fenotip. Cilj ovog rada je prikaz problema ponašanja koji se ispoljavaju kod najčešće proučavanih genetskih sindroma: Daunovog (Down), Fragilnog iks (X), Vilijemsovog (Williams), Prader-Vilijevog (Prader-Willi) i Angelmanovog (Angelman) sindroma. Koncept bihejvioralnog fenotipa podrazumeva veću verovatnoću ispoljavanja specifičnih razvojnih odlika i određenog ponašanja kod osoba s konkretnim genetskim sindromom. Iako je za opisane genetske sindrome tipična određena grupa (mogućih) problema i poremećaja koji sačinjavaju njihov bihejvioralni profil, vezu između genetike i ponašanja uvek treba sagledavati kroz probabilističku dimenziju. Probabilistički koncept uzima u obzir mogućnost unutarsindromske varijabilnosti u nastanku, intenzitetu i vremenu pojave bihejvioralnih karakteristika, pri čemu je ta varijabilnost veća što je manja specifičnost genetskog sindroma. Prepoznavanje specifičnog obrasca ponašanja može biti veoma važno za proces ranog dijagnostikovanja i prognoze. Osim toga, poznavanje bihejvioralnog fenotipa može da bude putokaz za kreiranje ciljanih strategija lečenja osoba s određenim genetskim sindromom.

Published
2014

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