1. Boardman FK. {{Attitudes toward population screening among people living with fragile X syndrome in the UK: ‘I wouldn’t wish him away, I’d just wish his fragile X syndrome away’}}. {Journal of genetic counseling}. 2020.
In an age of expanded genetic screening, fragile X syndrome is increasingly considered a candidate condition, given its prevalence, the absence of curative interventions, and its impact on families. However, relatively little research has explored the views of families and people living with fragile X syndrome toward population screening. This study reports on in-depth interviews with 19 participants: 3 with people diagnosed with a fragile X condition (fragile X syndrome = 2, FXTAS = 1) and 16 people with fragile X syndrome in their family (11 parents, 2 grandparents, 1 spouse, 1 sibling, and 1 aunt) living in the UK. This study reveals the complexity of attitudes within this group and the existence of genuine ambivalence toward different population screening programs. While the overwhelming majority believed that preconception and newborn genetic screening should be made available to the general public, the notion of prenatal screening was far more controversial, with only five participants expressing support for such a program. Expressivist concerns were highlighted equally both by those who supported prenatal screening, as by also those who did not. Participants who supported prenatal screening drew clear distinctions between people with fragile X syndrome and the condition itself, in order to neutralize expressivist concerns and existential threat. However, for others, this division was challenging to maintain. Impairment effects associated with fragile X syndrome, more specifically, its implications for behavior, intellect, and personality, made it harder for some participants to conceptually separate the person from their condition. This study concludes that screening remains a complex issue for families living with genetic conditions and that expressivist concerns affect, and are managed by, families living with different types of disability in contrasting ways. Screening for conditions that affect personality, behavior, and intellect produces unique iterations of expressivism, identity, and stigmatization that families produce specific, and creative, strategies to navigate.
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2. Desroches ML, Ailey S, Fisher K, Stych J. {{Impact of COVID-19: Nursing challenges to meeting the care needs of people with developmental disabilities}}. {Disability and health journal}. 2020: 101015.
BACKGROUND: People with developmental disabilities (DD) are a population at high-risk for poor outcomes related to COVID-19. COVID-19-specific risks, including greater comorbidities and congregate living situations in persons with DD compound existing health disparities. With their expertise in care of persons with DD and understanding of basic principles of infection control, DD nurses are well-prepared to advocate for the needs of people with DD during the COVID-19 pandemic. OBJECTIVE: To assess the challenges faced by nurses caring for persons with DD during the COVID-19 pandemic and how the challenges impact people with DD. METHODS: We surveyed 556 DD nurses, from April 6-20, 2020. The 35-item mixed-method survey asked nurses to rate the degree of challenges faced in meeting the care needs of people with DD. We analyzed responses based on presence of COVID-19 in the care setting and geographically. One open-ended question elicited challenges not included in the survey, which we analyzed using manifest content analysis. RESULTS: Startlingly, nurses reported being excluded from COVID-19 planning, and an absence of public health guidelines specific to persons with DD, despite their high-risk status. Obtaining PPE and sanitizers and meeting social-behavioral care needs were the most highly ranked challenges. COVID-19 impacted nurses’ ability to maintain adequate staffing and perform essential aspects of care. No significant geographic differences were noted. CONCLUSIONS: DD nurses must be involved in public health planning and policy development to ensure that basic care needs of persons with DD are met, and the disproportionate burden of COVID-19 in this vulnerable population is reduced.
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3. Gripp EW, Harcke HT, Bachrach SJ, Kecskemethy HH. {{A Comparison of Lumbar Spine and Lateral Distal Femur Bone Density in Girls With Rett Syndrome}}. {Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry}. 2020.
Patients with Rett syndrome (RS) are at risk for low bone mineral density (BMD) and femoral fractures. In patients with RS, assessment with lateral distal femur (LDF) dual-energy X-ray absorptiometry (DXA) is recommended and clinically relevant. This study is the first to assess LDF BMD in girls with RS, and to compare LDF BMD results with lumbar spine BMD results in RS. Method Eleven girls (mean age 8.4 yr) with molecularly diagnosed RS and clinical DXA scan(s) were identified; medical charts were retrospectively reviewed. Baseline and serial lumbar spine and LDF BMD Z-scores were evaluated based on patients’ ambulation status, presence of epilepsy, and mutation type. Results At the time of first scan, 8 of 11 patients had normal lumbar spine BMD and low LDF BMD Z-scores. Two patients had fracture history. Fully ambulatory (3) patients had higher lumbar spine and LDF BMD than partially (5) and nonambulatory (3) patients. Patients with epilepsy had lower average BMD at all sites. No difference was seen in lumbar spine or LDF BMD in patients with high-risk BMD mutations. Seven patients had serial DXA scans with an average observation of 5.1 yr (range 3.1 yr to 6.2 yr). Lumbar spine BMD over time was variable, while LDF bone mass accrual occurred at a lower rate than typically developing girls. Conclusion Females with RS exhibited lower BMD Z-scores at the LDF than at the lumbar spine. LDF and lumbar spine results were discordant. Ambulatory status and the presence of epilepsy were related to BMD. LDF BMD accrual deviated from normal as patients aged.
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4. Hatch B, Nordahl CW, Schwichtenberg AJ, Ozonoff S, Miller M. {{Factor Structure of the Children’s Sleep Habits Questionnaire in Young Children with and Without Autism}}. {J Autism Dev Disord}. 2020.
The Children’s Sleep Habits Questionnaire (CSHQ) is often used to assess sleep in children with autism spectrum disorder (ASD), but little is known about its factor structure in younger children with ASD. We evaluated alternative factor structures and measurement invariance for CSHQ items in 2- to 4-year-olds with ASD or typical development (TD). Bifactor models indicated subscales’ variance was subsumed by a general factor predominantly reflecting sleep initiation and nighttime awakening items. A factor consisting of 7 of these items was measurement invariant across ASD and TD. Thus, comparisons between young children with ASD and TD is appropriate for a measure composed of 7 CSHQ items relating to sleep initiation and awakenings but not for other CSHQ item composites.
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5. Lahiri DK, Maloney B, Wang R, Sokol DK, Rogers JT, Westmark CJ. {{How autism and Alzheimer’s disease are TrAPPed}}. {Mol Psychiatry}. 2020.
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6. Ortega-Alarcon D, Claveria-Gimeno R, Vega S, Jorge-Torres OC, Esteller M, Abian O, Velazquez-Campoy A. {{Molecular Context-Dependent Effects Induced by Rett Syndrome-Associated Mutations in MeCP2}}. {Biomolecules}. 2020; 10(11).
Methyl-CpG binding protein 2 (MeCP2) is a transcriptional regulator and a chromatin-binding protein involved in neuronal development and maturation. Loss-of-function mutations in MeCP2 result in Rett syndrome (RTT), a neurodevelopmental disorder that is the main cause of mental retardation in females. MeCP2 is an intrinsically disordered protein (IDP) constituted by six domains. Two domains are the main responsible elements for DNA binding (methyl-CpG binding domain, MBD) and recruitment of gene transcription/silencing machinery (transcription repressor domain, TRD). These two domains concentrate most of the RTT-associated mutations. R106W and R133C are associated with severe and mild RTT phenotype, respectively. We have performed a comprehensive characterization of the structural and functional impact of these substitutions at molecular level. Because we have previously shown that the MBD-flanking disordered domains (N-terminal domain, NTD, and intervening domain, ID) exert a considerable influence on the structural and functional features of the MBD (Claveria-Gimeno, R. et al. Sci Rep. 2017, 7, 41635), here we report the biophysical study of the influence of the protein scaffold on the structural and functional effect induced by these two RTT-associated mutations. These results represent an example of how a given mutation may show different effects (sometimes opposing effects) depending on the molecular context.
