The fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5): What is new for the Pediatrician?

Sharma, Neetu; Mishra, Ruchi; Mishra, Devendra

doi:10.1007/s13312-015-0589-y

Cited by 23 publications

(21 citation statements)

References 8 publications

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“…Variants were filtered based on the following criteria: [1] occurring in coding regions and/or splice sites; [2] nonsynonymous; [3] found at < 0.1% frequency (Single Nucleotide Polymorphism database [dbSNP] and Exome Variant Server); and [4] homozygous in consanguineous families. The variants were further confirmed by PCR amplification using specific primers (forward primer: 5 ′ -CTGCTGGGTCTTGGGAAG-3 ′ ; reverse primer: 5 ′ -TGCTGTTCCTGCTCTCCTCT-3 ′ ).…”

Section: Mutation Analysismentioning

confidence: 99%

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Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

et al. 2020

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A homozygous in-frame deletion (c. 758_778del; p. Glu253_Ala259del) in membrane-bound O-acyltransferase family member 7 (MBOAT7), also known as lysophosphatidylinositol acyltransferase (LPIAT1), was previously reported to be the genetic cause of intellectual disability (ID) in consanguineous families from Pakistan. Here, we identified two additional Pakistani consanguineous families with severe ID individuals sharing the same homozygous variant. Thus, we provide further evidence to support this MBOAT7 mutation as a potential founder variant. To understand the genotype-phenotype relationships of the in-frame deletion in the MBOAT7 gene, we located the variant in the fifth transmembrane domain of the protein and determined that it causes steric hindrance to the formation of an α-helix and hydrogen bond, possibly influencing its effectiveness as a functional transmembrane protein. Moreover, extensive neuropsychological observations, clinical interviews and genetic analysis were performed on 6 patients from the 2 families. We characterized the phenotype of the patients and noted the serious outcome of severe paraplegia. Thus, optimal management for symptom alleviation and appropriate screening in these patients are crucial.

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Section: Mutation Analysismentioning

confidence: 99%

“…Intellectual disability (ID) is a neurodevelopmental disorder characterized by substantial limitations in intellectual functioning and adaptive behavior (1). ID has an estimated prevalence of 1-3% worldwide and an increased prevalence among inbred consanguineous populations (2).…”

Section: Introductionmentioning

confidence: 99%

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

et al. 2020

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“…Because the pathophysiological mechanism is still unknown, in the early stages of studying delirium, it was also called intensive care unit (ICU) mental disturbance, ICU syndrome, pathological encephalopathy, or even acute brain failure. [ 1 ] As research continues, there is currently a consensus that we should describe and diagnose delirium by using the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5) [ 2 ] in the ICU. According to multiple recent studies, the incidence of delirium is 45% to 87%; [ 3 – 6 ] in 2004, the costs of delirium to the US health care system were estimated to be $4 to $16 billion annually.…”

Section: Introductionmentioning

confidence: 99%

Development and validation of risk-stratification delirium prediction model for critically ill patients

Chen

Du²,

Wei³

et al. 2017

Medicine

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The objective is to develop a model based on risk stratification to predict delirium among adult critically ill patients and whether early intervention could be provided for high-risk patients, which could reduce the incidence of delirium.We designed a prospective, observational, single-center study. We examined 11 factors, including age, APACHE-II score, coma, emergency operation, mechanical ventilation (MV), multiple trauma, metabolic acidosis, history of hypertension, delirium and dementia, and application of Dexmedetomidine Hydrochloride. Confusion assessment method for the intensive care unit (CAM-ICU) was performed to screen patients during their ICU stay. Multivariate logistic regression analysis was used to develop the model, and we assessed the predictive ability of the model by using the area under the receiver operating characteristics curve (AUROC).From May 17, 2016 to September 25, 2016, 681 consecutive patients were screened, 61 of whom were excluded. The most frequent reason for exclusion was sustained coma 30 (4.4%), followed by a length of stay in the ICU < 24 hours 18 (2.6%) and delirium before ICU admission 13 (1.9%). Among the remaining 620 patients (including 162 nervous system disease patients), 160 patients (25.8%) developed delirium, and 64 (39.5%) had nervous system disease. The mean age was 55 ± 18 years old, the mean APACHE-II score was 16 ± 4, and 49.2% of them were male. Spearman analysis of nervous system disease and incidence of delirium showed that the correlation coefficient was 0.186 (P < .01). We constructed a prediction model that included 11 risk factors. The AUROC was 0.78 (95% CI 0.72–0.83).We developed the model using 11 related factors to predict delirium in critically ill patients and further determined that prophylaxis with Dexmedetomidine Hydrochloride in delirious ICU patients was beneficial. Patients who suffer from nervous system disease are at a higher incidence of delirium, and corresponding measures should be used for prevention.Trial registration: ChiCTR-OOC-16008535.

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“…First, depression of FCGs is reported as the most important psychological factor in previous studies related to sleep disorders [4]. Depression is accompanied by sleep disorders, with decreased interest, appetite, and thinking abilities [23], resulting in sleep disorders in 65% of depressed patients [24] and making its management essential to improve the sleep quality for FCGs. Depression in FCGs of PWD has been reported to be two or three times more frequent than in the general population [25].…”

Section: Discussionmentioning

confidence: 99%

The Comprehensive Factors Affecting the Sleep Quality in Family Caregivers of Patients with Dementia in the Community of South Korea

박희옥

Kim

Moon

et al. 2021

J Korean Gerontol Nurs

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The purpose of this study was to provide the comprehensive factors affecting the sleep quality in family caregivers of patients with dementia in South Korea, including patient and caregiver-related factors. Methods: The participant were a total of 156 family caregivers who live with patients with dementia in South Korea. Patient and caregiver-related factors were measured using tools with high reliability. Data collection was performed from May to August 2019, and data were analyzed using descriptive analysis, t-test, ANOVA, Pearson's correlation coefficients, and multiple regression with the SPSS/21.0 program. Results: The significant factors affecting family caregivers' sleep quality were their depression (β=.52, p<.001) and their education (β=.23, p=.019). Conclusion: There is a need to monitor caregivers' depression and sleep quality. Future studies, biomarker to monitor caregivers' sleep quality to achieve objective evidence. There is a need to provide additional education programs to improve the understanding around caregivers' sleep quality especially for caregivers with low level of education.

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The fifth edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-5): What is new for the Pediatrician?

Cited by 23 publications

References 8 publications

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families

Development and validation of risk-stratification delirium prediction model for critically ill patients

The Comprehensive Factors Affecting the Sleep Quality in Family Caregivers of Patients with Dementia in the Community of South Korea

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