Pubmed du 12/09/21
1. Bellis W. The new normal – dentistry and the autistic patient. British dental journal. 2021; 231(5): 303-4.
This article looks at some of the issues around providing and receiving dental care for autistic children and adults in the shadow of COVID-19 and suggests management approaches. COVID-19 represents yet another barrier to accessing dental care for some individuals with ASD.Dental professionals need to specifically ask families at recall about how the pandemic has,and continues to affect the individual concerned. Dental management may consequently need to be adapted to reflect this information.
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2. Chaya T, Ishikane H, Varner LR, Sugita Y, Maeda Y, Tsutsumi R, Motooka D, Okuzaki D, Furukawa T. Deficiency of the neurodevelopmental disorder-associated gene Cyfip2 alters the retinal ganglion cell properties and visual acuity. Human molecular genetics. 2022; 31(4): 535-47.
Intellectual disability (ID) is a neurodevelopmental disorder affecting approximately 0.5-3% of the population in the developed world. Individuals with ID exhibit deficits in intelligence, impaired adaptive behavior and often visual impairments. Cytoplasmic fragile X mental retardation 1 (FMR1)-interacting protein 2 (CYFIP2) is an interacting partner of the FMR protein, whose loss results in fragile X syndrome, the most common inherited cause of ID. Recently, CYFIP2 variants have been found in patients with early-onset epileptic encephalopathy, developmental delay and ID. Such individuals often exhibit visual impairments; however, the underlying mechanism is poorly understood. In the present study, we investigated the role of Cyfip2 in retinal and visual functions by generating and analyzing Cyfip2 conditional knockout (CKO) mice. While we found no major differences in the layer structures and cell compositions between the control and Cyfip2 CKO retinas, a subset of genes associated with the transporter and channel activities was differentially expressed in Cyfip2 CKO retinas than in the controls. Multi-electrode array recordings showed more sustained and stronger responses to positive flashes of the ON ganglion cells in the Cyfip2 CKO retina than in the controls, although electroretinogram analysis revealed that Cyfip2 deficiency unaffected the photoreceptor and ON bipolar cell functions. Furthermore, analysis of initial and late phase optokinetic responses demonstrated that Cyfip2 deficiency impaired the visual function at the organismal level. Together, our results shed light on the molecular mechanism underlying the visual impairments observed in individuals with CYFIP2 variants and, more generally, in patients with neurodevelopmental disorders, including ID.
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3. Chiang S, Moss R, Meskis MA, Vogel-Farley V, Sullivan JE, Patel AD, Rao VR. Impact of intellectual and developmental disability on quality-of-life priorities in adults with epilepsy. Epilepsy & behavior : E&B. 2021; 123: 108282.
OBJECTIVE: Adults living with intellectual and developmental disability (IDD) and epilepsy (IDD-E) face challenges in addition to those faced by the general population of adults with epilepsy, which may be associated with distinct priorities for improving health-related quality of life (HR-QOL). This study sought to (1) conduct a survey of HR-QOL priorities identified by adults with IDD-E and caregivers, and (2) perform an exploratory cross-sectional comparison to adults with epilepsy who do not have IDD. METHODS: This cross-sectional study recruited 65 adults with IDD-E and 134 adults with epilepsy without IDD and caregivers. Using a three-step development process, 256 items from existing quality-of-life scales recommended by the American Academy of Neurology (AAN) were rated by patients/caregivers for their importance as HR-QOL priorities. HR-QOL items identified as critical to the majority of the sample of adults with IDD-E were reported. Health-related quality of life priorities were compared between adults with IDD-E and adults with epilepsy without IDD. RESULTS: Health-related quality of life was significantly lower in adults with IDD-E. Health-related quality of life domains identified as critical priorities by adults with IDD-E included seizure burden, anti-seizure medication side effects, seizure unpredictability, and family impact. Priorities for improving HR-QOL differed between adults with and without IDD-E, with concerns about family impact, difficulty finding appropriate living conditions, inadequate assistance, and difficulty transitioning from pediatric-to-adult care valued significantly more among those with IDD-E. SIGNIFICANCE: Intellectual and developmental disability is an important determinant of HR-QOL among adults with epilepsy. We report HR-QOL priorities identified by adults with IDD-E and their caregivers. These results may help epilepsy clinicians and researchers develop tailored strategies to address priorities of the patient with IDD-E/caregiver community.
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4. Jamal FN, Dzulkarnain AAA, Shahrudin FA, Musa R, Sidek SN, Yusof HM, Khalid M. Translation, validation and cross-cultural adaptation of the Malay emotion regulation checklist (ERC-M): A preliminary study. The Medical journal of Malaysia. 2021; 76(5): 680-4.
INTRODUCTION: Emotion Regulation Checklist (ERC) has been used globally and translated to several languages, including Brazilian Portuguese, Italian and Persian. The aim of this study is to translate and validate ERC to the Malay language and to measure the reliability and validity of the translated version of this scale among Malaysian parents. METHODS: This study involved forward and back translation method. The translated questionnaire was then pretested and piloted among 10 parents and 50 participants, respectively. The procedure was repeated using the same questionnaire to evaluate the test-retest reliability. RESULTS: The ERC-Malay (ERC-M) has excellent qualitative and quantitative measurements in both item-level content validation index (I-CVI) and scale-level content validation index (S-CVI). In addition, the ERC-M demonstrated good internal consistency from Cronbach’s alpha and test-retest reliability based on the Intraclass Correlation Coefficient (ICC) in all domains. CONCLUSION: ERC-M can potentially be used as a tool to evaluate emotion for the population with emotional dysregulation issue, such as autism spectrum disorder.
