Browsing by Subject "Intellectual disability"
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- ItemOpen AccessA Review of Psychotropic drug prescription for patients with Intellectual disability at Alexandra Hospital (a specialist Intellectual Disability psychiatric hospital) outpatient clinic(2021) Akpabio, Idorenyin Ubon; Kleintjes, Sharon; Smith, PeterBackground: People with intellectual disability are more likely than the general population to be prescribed psychotropic agents. The most common indications include treatment of a psychiatric disorder and management of behaviours that challenge. Aim: The study aimed to assess the prescribing patterns of psychotropic medication to outpatients with intellectual disability at a psychiatric hospital. Setting: Alexandra hospital outpatient clinic, Cape Town. Methods: This was a retrospective folder and prescription chart review. Folders of all new patients (103) seen between January 2018 and August 2019 were examined at two points, the initial appointment and again at six months. The information was examined against the World Psychiatric Association (WPA) and the National Institute for Health and Care Excellence (NICE) guidelines for prescribing in people with intellectual disability. Results: psychotropic medication was prescribed to 88% of patients. Antipsychotics accounted for more than 56% of the medication prescribed and was used mainly to manage behaviours that challenge. Clinicians at Alexandra hospital followed prescribing guidelines to some extent; however, more still needs to be done to ensure best practice and care. Conclusion: This review revealed a few shortcomings in meeting prescribing guidelines by clinicians at Alexandra hospital. Measures to address these shortcomings could be the inclusion of medication review schedules and standardised forms for clerking and monitoring of side effects in patient files, the use of behavioural strategies as the primary management of behaviours that challenge, and the performance of regular clinical practice audits.
- ItemOpen AccessNo evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome(Biomed Central, 2015) Schlogel, Matthieu; Mendola, Antonella; Fastre, Elodie; Vasudevan, Pradeep; Devriendt, Koen; de Ravel, Thomy; Van Esch, Hilde; Casteels, Ingele; Arroyo Carrera, Ignacio; Cristofoli, Francesca; Fieggen, Karen; Jones, Katheryn; Lipson, Mark; Balikova,BACKGROUND:Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome (MCLMR) is a rare autosomal dominant disorder with variable expressivity. It is characterized by mild-to-severe microcephaly, often associated with intellectual disability, ocular defects and lymphedema. It can be sporadic or inherited. Eighty-seven patients have been described to carry a mutation in KIF11, which encodes a homotetrameric motor kinesin, EG5. METHODS: We tested 23 unreported MCLMR index patients for KIF11. We also reviewed the clinical phenotypes of all our patients as well as of those described in previously published studies. RESULTS: We identified 14 mutations, 12 of which are novel. We detected mutations in 12 affected individuals, from 6 out of 6 familial cases, and in 8 out of 17 sporadic patients. Phenotypic evaluation of patients (our 26+61 earlier published=87) revealed microcephaly in 91%, eye anomalies in 72%, intellectual disability in 67% and lymphedema in 47% of the patients. Unaffected carriers were rare (4 out of 87: 5%). Family history is not a requisite for diagnosis; 31% (16 out of 52) were de novo cases. CONCLUSIONS: All inherited cases, and 50% of sporadic cases of MCLMR are due to germline KIF11 mutations. It is possible that mosaic KIF11 mutations cause the remainder of sporadic cases, which the methods employed here were not designed to detect. On the other hand, some of them might have another mimicking disorder and genetic defect, as microcephaly is highly heterogeneous. In aggregate, KIF11 mutations likely cause the majority, if not all, of MCLMR.
- ItemOpen AccessDe novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures(2021-10-26) Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A.; Bassetti, Jennifer A.; Moldovan, Oana; O’Heir, Emily; Burrage, Lindsay C.; Allen, Jake; Emrick, Lisa T.; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H.; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J.; Umair, Muhammad; Li, Dong; Donald, Kirsten A.; Superti-Furga, AndreaBackground De novo variants in the voltage-gated calcium channel subunit α1 E gene (CACNA1E) have been described as causative of epileptic encephalopathy with contractures, macrocephaly and dyskinesias. Methods Following the observation of an index patient with developmental delay and autism spectrum disorder (ASD) without seizures who had a de novo deleterious CACNA1E variant, we screened GeneMatcher for other individuals with CACNA1E variants and neurodevelopmental phenotypes without epilepsy. The spectrum of pathogenic CACNA1E variants was compared to the mutational landscape of variants in the gnomAD control population database. Results We identified seven unrelated individuals with intellectual disability, developmental regression and ASD-like behavioral profile, and notably without epilepsy, who had de novo heterozygous putatively pathogenic variants in CACNA1E. Age of onset of clinical manifestation, presence or absence of regression and degree of severity were variable, and no clear-cut genotype–phenotype association could be recognized. The analysis of disease-associated variants and their comparison to benign variants from the control population allowed for the identification of regions in the CACNA1E protein that seem to be intolerant to substitutions and thus more likely to harbor pathogenic variants. As in a few reported cases with CACNA1E variants and epilepsy, one patient showed a positive clinical behavioral response to topiramate, a specific calcium channel modulator. Limitations The significance of our study is limited by the absence of functional experiments of the effect of identified variants, the small sample size and the lack of systematic ASD assessment in all participants. Moreover, topiramate was given to one patient only and for a short period of time. Conclusions Our results indicate that CACNA1E variants may result in neurodevelopmental disorders without epilepsy and expand the mutational and phenotypic spectrum of this gene. CACNA1E deserves to be included in gene panels for non-specific developmental disorders, including ASD, and not limited to patients with seizures, to improve diagnostic recognition and explore the possible efficacy of topiramate.
- ItemOpen AccessSevere to Profound Intellectual Disability: Circles of Care and Education(2020) McKenzie, JudithThis course is about caring for and educating children (and youth) with severe to profound intellectual disability. We use the idea of 'circles' to position the child at the center of the many levels of support needed. Around the child are circles of care and education - such as the parents, family, friends, caregivers, educators, health care workers and others such as neighbors, business owners and community members. Each one has an important role to play in the life of a person with an intellectual disability and can be seen as a caregiver and educator. Although this course is aimed particularly at caregivers who work at a special centre or in a private home, each person in the circle of care and education plays a valuable role and will find the course useful. During the course you can gain greater understanding about intellectual disability, levels of severity of intellectual disability and the history of intellectual disability. You will also start to understand how you can support children and youth with severe to profound intellectual disability so that they can reach their full potential and become participating members of society. We look at lifelong learning by exploring brain development, the learning process and how to maximise the opportunities for learning. With input from a range of experts, we consider how best learning can be facilitated. This includes looking at children’s learning support needs, how to go about planning activities for the learning programme as well as how to empower multiple people who work in a team to care and educate children with severe to profound intellectual disability.
- ItemOpen AccessUnderstanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM(BioMed Central, 2023-08-08) Müller, Annelieke R.; Luijten, Michiel A. J.; Haverman, Lotte; de Ranitz-Greven, Wendela L.; Janssens, Peter; Rietman, André B.; ten Hoopen, Leontine W.; de Graaff, Laura C. G.; de Wit, Marie-Claire; Jansen, Anna C.; Gipson, Tanjala; Capal, Jamie K.; de Vries, Petrus J.; van Eeghen, Agnies M.Background Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to measure the impact of TSC manifestations on daily functioning. The aim of this study was to develop a TSC-specific PROM for adults that captures the impact of TSC on physical functions, mental functions, activity and participation, and the social support individuals with TSC receive, called the TSC-PROM. Methods COSMIN methodology was used to develop a self-reported and proxy-reported version. Development and validation consisted of the following studies: PROM development, content validity, structural validity, internal consistency, and construct validity. The International Classification of Functioning and Disability was used as a framework. Content validity was examined by a multidisciplinary expert group and cognitive interview study. Structural and construct validity, and internal consistency were examined in a large cohort, using confirmatory factor analysis, hypotheses testing, and Cronbach’s alpha. Results The study resulted in an 82-item self version and 75-item proxy version of the TSC-PROM with four subscales (physical functions 18 and 19 items, mental functions 37 and 28 items, activities and participation 13 and 14 items, social support 13 items, for self version and proxy version respectively). Sufficient results were found for structural validity with sufficient unidimensionality for each subscale. With regard to construct validity, 82% of the hypotheses were met for the self version and 59% for the proxy version. The PROM showed good internal consistency (Cronbach’s alpha 0.78–0.97). Conclusions We developed a PROM for adults with TSC, named TSC-PROM, showing sufficient evidence for reliability and validity that can be used in clinical and research settings to systematically gain insight into their experiences. It is the first PROM in TSC that addresses the impact of specific TSC manifestations on functioning, providing a valuable, patient-centered addition to the current clinical outcomes.