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1.
PLoS One ; 15(10): e0241298, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33108397

RESUMO

BACKGROUND: Women with intellectual and developmental disabilities (IDD) may face greater risk for poor pregnancy outcomes. Our objective was to examine risk of maternal pregnancy complications and birth outcomes in women with IDD compared to women without IDD in Wisconsin Medicaid, from 2007-2016. METHODS: Data were from the Big Data for Little Kids project, a data linkage that creates an administrative data based cohort of mothers and children in Wisconsin. Women with ≥1 IDD claim the year before delivery were classified as having IDD. Common pregnancy complications and maternal birth outcomes were identified from the birth record. We calculated risk ratios (RR) using log-linear regression clustered by mother. We examined outcomes grouped by IDD-type and explored interaction by race. RESULTS: Of 177,691 women with live births, 1,032 (0.58%) had an IDD claim. Of 274,865 deliveries, 1,757 were to mothers with IDD (0.64%). Women with IDD were at greater risk for gestational diabetes (RR: 1.28, 95% CI: 1.0, 1.6), gestational hypertension (RR: 1.22, 95% CI: 1.0, 1.5), and caesarean delivery (RR 1.32, 95% CI: 1.2, 1.4) compared to other women. Adjustment for demographic covariates did not change estimates. Women with intellectual disability were at highest risk of gestational hypertension. Black women with IDD were at higher risk of gestational hypertension than expected under a multiplicative model. CONCLUSIONS: Women with IDD have increased risk of pregnancy complications and adverse outcomes in Wisconsin Medicaid. Results were robust to adjustment. Unique patterns by IDD types and Black race warrant further exploration.


Assuntos
Deficiências do Desenvolvimento/complicações , Deficiência Intelectual/complicações , Medicaid , Complicações na Gravidez/epidemiologia , Resultado da Gravidez , Adolescente , Adulto , Grupos de Populações Continentais , Feminino , Humanos , Razão de Chances , Parto , Gravidez , Estados Unidos , Wisconsin/epidemiologia , Adulto Jovem
2.
Artigo em Inglês | MEDLINE | ID: mdl-33080804

RESUMO

Developmental disability is likely to be lifelong in nature and to result in substantial activity and societal participation limitations. The performance of individuals is related to the environment, supports, and urbanization of living cities. Most of the surveys for people with disabilities have not discussed the relationship between the cognitive impairment properties and performance of participation and activities functioning, and most cognitive impairments are regarded as having similar performance. The location of residence in childhood is mainly influenced by parents and main caregivers, but the factors related to the preferences of adults with cognitive impairment in the location of residence are more complicated. OBJECTIVE(S): The aim was to explore and compare the relationships of the urbanization degree of their living cities and the functioning performance of daily living in various domains among adults with intellectual disability (ID), autism, and concomitant communicative impairment (CCI). METHOD: The cross-sectional study was applied, and the data was collected face-to-face by professionals in all authorized hospitals in Taiwan. The participants were 5374 adults with ID (n = 4455), autism (n = 670), CCI (n = 110) and combination disabilities (n = 139) which were according to the International Statistical Classification of Diseases 9th Revision (ICD-9) from a total of 167,069 adults with disabilities from the Disability Eligibility System (DES) in Taiwan between July 2012 and October 2013. The authors used the World Health Organization Disability Assessment Schedule 2.0-36 item version of WHO (WHODAS 2.0-36 items) to measure performance and capability of daily living. RESULTS AND CONCLUSIONS: There were significant differences in age, gender, disabled severity, and the urbanization between all subgroups (p < 0.05). After adjusting the age of all participators, the degree of urbanization just significantly affected the functioning score distribution in domain 1: cognition for an adult with ID, autism, and CCI; in domain 2, mobility for an adult with CCI and combination disability; in domain 3, self-care; domain 4, independent domains for ID (p < 0.05). There were no significant differences between urbanization degree and functioning scores in all domains for adults with autism. All in all, only in groups with combination disability did we find that the worse the degree of impairment was, the lower the degree of urbanization of their place of residence was, and there was no such phenomenon in adults with autism and ID in our study.


Assuntos
Atividades Cotidianas , Deficiências do Desenvolvimento/complicações , Urbanização , Adulto , Criança , Estudos Transversais , Deficiências do Desenvolvimento/epidemiologia , Avaliação da Deficiência , Feminino , Humanos , Masculino , Taiwan/epidemiologia
3.
Rev Med Suisse ; 16(708): 1811-1816, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997452

RESUMO

Patients suffering from intellectual and developmental disabilities are vulnerable and often polymorbid. The neurosensory disorders that hinder communication and the multitude of caregivers working with them are main causes for the complexity of their care. In order to avoid fragmentation of care and to ensure optimal quality, the primary care physician should be able to show leadership and coordinate care to limit risky interventions and hospitalizations.


Assuntos
Deficiências do Desenvolvimento , Clínicos Gerais , Deficiência Intelectual , Papel do Médico , Cuidadores , Comunicação , Deficiências do Desenvolvimento/complicações , Hospitalização , Humanos , Deficiência Intelectual/complicações
4.
Intellect Dev Disabil ; 58(4): 257-261, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32750709

RESUMO

The coronavirus (COVID-19) pandemic has affected, and will continue to affect, every aspect of the intellectual and developmental disabilities (IDD) community. We provide recommendations to (a) support people with IDD and the broader of field of IDD during the course of the pandemic, and (b) place the IDD community in a strong position when the health threats associated with the pandemic abate and post-pandemic social and policy structures are formed.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Deficiências do Desenvolvimento/complicações , Deficiência Intelectual/complicações , Pneumonia Viral/complicações , Adulto , Criança , Infecções por Coronavirus/prevenção & controle , Deficiências do Desenvolvimento/virologia , Disparidades em Assistência à Saúde , Humanos , Deficiência Intelectual/virologia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle
5.
Disabil Health J ; 13(3): 100942, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32473875

RESUMO

BACKGROUND: Despite possibly higher risk of severe outcomes from COVID-19 among people with intellectual and developmental disabilities (IDD), there has been limited reporting of COVID-19 trends for this population. OBJECTIVE: To compare COVID-19 trends among people with and without IDD, overall and stratified by age. METHODS: Data from the TriNetX COVID-19 Research Network platform was used to identify COVID-19 patients. Analysis focused on trends in comorbidities, number of cases, number of deaths, and case-fatality rate among patients with and without IDD who had a positive diagnosis for COVID-19 through May 14, 2020. RESULTS: People with IDD had higher prevalence of specific comorbidities associated with poorer COVID-19 outcomes. Distinct age-related differences in COVID-19 trends were present among those with IDD, with a higher concentration of COVID-19 cases at younger ages. In addition, while the overall case-fatality rate was similar for those with IDD (5.1%) and without IDD (5.4%), these rates differed by age: ages ≤17 - IDD 1.6%, without IDD <0.01%; ages 18-74 - IDD 4.5%, without IDD 2.7%; ages ≥75- IDD 21.1%, without IDD, 20.7%. CONCLUSIONS: Though of concern for all individuals, COVID-19 appears to present a greater risk to people with IDD, especially at younger ages. Future research should seek to document COVID-19 trends among people with IDD, with particular attention to age related trends.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Deficiências do Desenvolvimento/complicações , Deficiência Intelectual/complicações , Pneumonia Viral/epidemiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Comorbidade , Infecções por Coronavirus/complicações , Pessoas com Deficiência , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/complicações , Prevalência , Adulto Jovem
6.
Gene ; 753: 144815, 2020 Aug 30.
Artigo em Inglês | MEDLINE | ID: mdl-32479982

RESUMO

Lymphedema are characterized by interstitial edema leading to swelling of extremities. They can be divided into primary and secondary lymphedema. Developmental abnormalities of the lymphatic system are responsible for the primary form of lymphedema. The secondary form of lymphedema is caused by damage of the lymphatic system due to external factors. Lymphedema can rarely be observed in patients with tuberous sclerosis complex (TSC), which is a neurocutaneous syndrome caused by pathogenic variants in the genes TSC1 or TSC2. Patients with TSC usually present with neurological manifestations and the development of multiple benign tumors of ectodermal origin. Typical onset for several symptoms is during the first year of life and in some cases lesions can be detected prenatally. Epilepsy is one of the most common manifestations, affecting up to 90% of TSC patients, and is associated with developmental delay. Early pharmacotherapy improves long term patient outcome. Trio exome sequencing was performed in a 3 weeks old girl with congenital lymphedema of the right lower extremity. Using a filter for de novo variants, the heterozygous missense variant c.2524C>T, p.(Gln842Ter) in TSC1 (NM_000368.4) could be identified. After the first onset of infantile spams at age 7 months treatment with vigabatrin was started immediately. We propose to include TSC1 and TSC2 analysis in the diagnostic work-up of patients with (isolated) congenital lymphedema as early diagnosis facilitates consequent treatment strategies potentially improving the prognosis of TSC patients.


Assuntos
Linfedema/genética , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia , Deficiências do Desenvolvimento/complicações , Epilepsia/genética , Feminino , Humanos , Lactente , Linfedema/complicações , Linfedema/patologia , Mutação de Sentido Incorreto/genética , Prognóstico , Esclerose Tuberosa/complicações , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética , Sequenciamento Completo do Exoma
7.
JAMA Netw Open ; 3(5): e204096, 2020 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-32369180

RESUMO

Importance: Although birth defects in children with congenital Zika syndrome (CZS) are expected to result in significant intellectual disabilities, the extent of delay and profiles of development have yet to be fully described. Objectives: To describe the neurodevelopmental profiles of children with CZS and to test whether prenatal and postpartum characteristics were associated with the severity of developmental delays. Design, Setting, and Participants: This is a case series of the trajectories of developmental, behavioral, and medical needs of 121 young children with CZS who were assessed at a specialized rehabilitation center in Recife, Brazil, beginning in January 2018 as part of 5-year longitudinal study. Children were included if they had serologic confirmation of Zika virus and met clinical criteria accompanied by parental report of suspected exposure to Zika virus during pregnancy. Exposures: Prenatal Zika virus exposure. Main Outcomes and Measures: The Brazilian version of the Bayley Scales of Infant and Toddler Development, Third Edition, was administered by trained assessors as part of an initial comprehensive assessment battery. Caregiver interviews and medical record reviews were conducted to gather basic demographic information and medical comorbidities. Linear regression was used to identify potential factors for development. Results: The sample included 121 young children (mean [SD] age, 31.2 [1.9] months; 61 [50.4%] girls). At age approximately 2.5 years, nearly all children in this sample demonstrated profound developmental delays across all domains of functioning, with a mean (SD) developmental age equivalent to approximately 2 to 4 months (eg, cognitive domain, 2.24 [3.09] months; fine motor subscale, 2.15 [2.93] months; expressive language subscale, 2.30 [2.52] months). A relative strength was found in receptive language, with scores on this scale significantly higher than most other domains (eg, cognition: t = 3.73; P < .001; fine motor: t = 6.99; P < .001). Head circumference at birth was the single strongest factor associated with outcomes across all developmental domains (eg, cognitive: ß = 1.41; SE, 0.67; P = .04; fine motor: ß = 1.36; SE, 0.49; P = .007). Conclusions and Relevance: The findings of this study provide important information regarding the severity of disability that these children and their families will experience. The findings also establish an initial point from which to monitor developmental trajectories, medical comorbidities (eg, seizures), effectiveness of interventions, and cumulative consequences on families.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Microcefalia/complicações , Infecção por Zika virus/complicações , Brasil/epidemiologia , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Feminino , Humanos , Estudos Longitudinais , Masculino , Gravidez , Infecção por Zika virus/congênito
8.
Ann Pharmacother ; 54(10): 958-966, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32336108

RESUMO

BACKGROUND: Patients who have intellectual/developmental disabilities (IDDs) develop atherosclerotic cardiovascular disease (ASCVD) or heart failure (HF) at rates similar to or higher than the general population. They also face disparities accessing and using health care services. OBJECTIVE: To determine if disparities exist in the use of guideline-based pharmacotherapy (GBP) for ASCVD or HF for adults with IDD. METHODS: Using the 2014 Clinformatics Data Mart Database, adults with ASCVD or HF were divided into IDD or non-IDD groups. Patients with contraindications for GBP medications were excluded. Use of GBP between IDD and non-IDD groups was examined. Subgroup analysis included comparisons between IDD groups. RESULTS: For HF, 1011 patients with IDD and 236,638 non-IDD patients were identified. For ASCVD, 2190 IDD and 790,343 non-IDD patients were identified. We found that 47.9%, 35.8%, and 13.1% of IDD and 58.7%, 48.4%, and 18.9% of non-IDD patients had pharmacy claims for statins (P < 0.001), ß-blockers (P < 0.001), or antiplatelet therapy (P < 0.001), respectively. For HF, 46.8% and 50.3% of IDD and 59.8% and 55.4% of non-IDD patients had pharmacy claims for ß-blockers (P < 0.001) and angiotensin-converting enzyme (ACE) inhibitors or angiotensin-receptor blockers (ARBs; P = 0.003), respectively. In all but one multivariate regression models patients with IDD were less likely to use GBP than patients in the non-IDD group. Subgroup analysis revealed that patients who had Down syndrome had lower GBP use in 4 of the 5 measures. CONCLUSION AND RELEVANCE: Disparities exist in the use of GBP for patients with IDD with ASCVD or HF. Patients who have an IDD should be examined by clinicians to ensure appropriate access to and use of GBP.


Assuntos
Aterosclerose/tratamento farmacológico , Deficiências do Desenvolvimento/tratamento farmacológico , Prescrições de Medicamentos/estatística & dados numéricos , Insuficiência Cardíaca/tratamento farmacológico , Deficiência Intelectual/tratamento farmacológico , Antagonistas Adrenérgicos beta/uso terapêutico , Adulto , Fatores Etários , Antagonistas de Receptores de Angiotensina/uso terapêutico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Aterosclerose/complicações , Aterosclerose/epidemiologia , Criança , Bases de Dados Factuais , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/epidemiologia , Feminino , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/epidemiologia , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Deficiência Intelectual/complicações , Deficiência Intelectual/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Guias de Prática Clínica como Assunto , Estudos Retrospectivos , Fatores Sexuais
9.
Plast Reconstr Surg ; 145(5): 1215-1221, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32332541

RESUMO

BACKGROUND: There is scant literature regarding patient-reported outcomes after reconstruction for congenital hand syndactyly. Understanding patient perceptions of the postoperative outcome may facilitate a more evidence-based discussion of expectations after reconstruction. METHODS: All patients undergoing congenital syndactyly reconstruction at Ann and Robert H. Lurie Children's Hospital of Chicago between January of 2007 and December of 2015 were identified. Patient-Reported Outcomes Measurement Information System questionnaires were completed by patients; parent-proxy questionnaires were completed for patients 10 years of age and younger and those unable to complete the questionnaire independently. A retrospective chart review was also performed to capture demographic and clinical information. RESULTS: The authors identified 124 patients meeting inclusion criteria; 51 completed the Patient-Reported Outcomes Measurement Information System surveys (response rate, 41.1 percent). The survey score for upper extremity function was 41.8 ± 11. Upper extremity function was further impaired in patients with a documented history of developmental delay (23.8 ± 6.2 versus 44.2 ± 10.2). Parents completing surveys on behalf of their children reported higher pain interference scores than self-responders. CONCLUSIONS: The Patient-Reported Outcomes Measurement Information System is a valuable tool for measuring patient-reported outcomes in patients with syndactyly. Patients who have undergone reconstruction for syndactyly experience minor impairments in upper extremity function, but other aspects of their health-related quality of life are comparable to those of the general population. Developmental delay may be associated with additional impairments in upper extremity function and should be discussed when considering surgical reconstruction.


Assuntos
Dedos/anormalidades , Procedimentos Ortopédicos/efeitos adversos , Dor Pós-Operatória/epidemiologia , Medidas de Resultados Relatados pelo Paciente , Procedimentos Cirúrgicos Reconstrutivos/efeitos adversos , Sindactilia/cirurgia , Fatores Etários , Chicago , Criança , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Dedos/cirurgia , Humanos , Lactente , Recém-Nascido , Masculino , Medição da Dor , Dor Pós-Operatória/diagnóstico , Dor Pós-Operatória/etiologia , Dor Pós-Operatória/psicologia , Qualidade de Vida , Recuperação de Função Fisiológica , Estudos Retrospectivos , Autorrelato/estatística & dados numéricos , Sindactilia/complicações , Sindactilia/fisiopatologia , Resultado do Tratamento , Extremidade Superior/fisiopatologia
10.
Intellect Dev Disabil ; 58(2): 111-125, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32240050

RESUMO

Dysphagia is common in individuals with developmental disabilities. Little research exists on the impact of trainings aimed at improving Direct Care Staff's (DCS) use of safe eating and drinking practices. This article presents two studies using pre-and postexperimental design, evaluating online training to improve DCSs' knowledge and ability to identify nonadherence to diet orders. A pilot study (n = 18) informed improvements to the intervention. The follow-up study (n = 64) compared those receiving training with those receiving training plus supervisor feedback. There was no significant difference between groups after training. Both groups increased in knowledge and identification of nonadherence to diet orders. Online training may be an effective tool for training DCS in safe eating and drinking practices.


Assuntos
Transtornos de Deglutição/prevenção & controle , Deficiências do Desenvolvimento/complicações , Comportamento de Ingestão de Líquido , Comportamento Alimentar , Educação de Pacientes como Assunto , Segurança , Transtornos de Deglutição/etiologia , Feminino , Seguimentos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Internet , Masculino , Projetos Piloto , Resultado do Tratamento
12.
Am J Ophthalmol ; 218: 330-336, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32112773

RESUMO

PURPOSE: The purpose of this study was to investigate the etiology and clinical features of nontraumatic rhegmatogenous retinal detachment (RRD) in children. DESIGN: Consecutive, cross-sectional study. METHODS: In this study, 112 operative eyes of 102 patients ≤18 years of age with nontraumatic RRD were included. Comprehensive ophthalmic examinations were performed in all patients. Genetic testing was performed in 34 patients with hereditary congenital/developmental diseases. The etiology of RRD was analyzed. RESULTS: The average age was 12.2 ± 4.5 years (range, 1-18 years). The percentages of male and female patients were 74.5% (76/102) and 25.5% (26/102), respectively. The most common etiologic factors were congenital/developmental anomalies (51/102, 50%), followed by simple myopia (34/102, 33.3%) and previous intraocular surgery (6/102, 5.9%). More than half (31/51, 60.8%) of the patients with congenital/developmental anomalies had familial exudative vitreoretinopathy. Further analysis of the underlying etiologic factors based on age revealed that the most common etiology of RRD in patients ≤12 years of age was congenital/developmental anomalies (28/48, 58.3%); however, simple myopia was the major etiologic factor in patients >12 years of age (27/54, 50%). CONCLUSIONS: Congenital/developmental diseases were the most common etiologies of pediatric nontraumatic RRD in China. Familial exudative vitreoretinopathy accounted for most of the congenital/developmental anomalies.


Assuntos
Anormalidades Congênitas/etiologia , Deficiências do Desenvolvimento/complicações , Vitreorretinopatias Exsudativas Familiares/complicações , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Adolescente , Artrite/complicações , Criança , Pré-Escolar , Doenças do Tecido Conjuntivo/complicações , Estudos Transversais , Feminino , Testes Genéticos , Perda Auditiva Neurossensorial/complicações , Humanos , Lactente , Masculino , Síndrome de Marfan/complicações , Miopia/complicações , Descolamento Retiniano/complicações , Fatores de Risco , Sequenciamento Completo do Exoma
13.
Am Psychol ; 75(2): 163-177, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32052992

RESUMO

Rates of childhood overweight and obesity among youth in the United States remain historically high and can persist into adulthood, resulting in increased health care expenditures, comorbidities, and reduced quality of life. The purpose of this article is to illustrate how principles drawn from developmental psychopathology (DP) can be applied to enhance current conceptualizations of obesity risk during childhood and beyond. DP is a theoretical perspective that has reshaped the landscape of childhood mental health by using principles of developmental science to model complex processes leading to maladaptation or dysfunction with biological, psychological, and contextual roots. This article focuses on 2 broad interrelated DP tenets: (a) examination of developmental pathways considered both normative and nonnormative as well as processes of individual variation and the nature of developmental change and (b) articulation of complex transactional and transformational processes over time that incorporate both biobehavioral and social-contextual factors embedded in multilevel models. By illustrating how these DP tenets can expand on current childhood obesity knowledge, this article offers a novel perspective that closely aligns central developmental processes with childhood obesity risk and may enrich conceptual models and spark new directions for childhood obesity research, leading ultimately to more effective intervention and prevention efforts necessary to slow or, ideally, reverse, the obesity epidemic. (PsycINFO Database Record (c) 2020 APA, all rights reserved).


Assuntos
Deficiências do Desenvolvimento/psicologia , Transtornos Mentais/psicologia , Obesidade Pediátrica/psicologia , Criança , Desenvolvimento Infantil , Deficiências do Desenvolvimento/complicações , Humanos , Transtornos Mentais/complicações , Obesidade Pediátrica/complicações , Obesidade Pediátrica/prevenção & controle , Fatores de Risco , Estados Unidos
14.
Adv Neurobiol ; 24: 83-96, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32006357

RESUMO

Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. These comorbidities may include developmental delay, gastrointestinal problems, cardiac disorders, immune and autoimmune dysregulation, neurological manifestations (e.g., epilepsy, intellectual disability), and other clinical features. This wide phenotypic heterogeneity is difficult to predict and manifests across a wide range of ages and with a high degree of difference in severity, making disease management and prediction of a successful intervention very difficult. Recently, advances in genomics and other molecular technologies have enabled the study of ASD on a molecular level, illuminating genes and pathways whose perturbations help explain the clinical variability among patients, and whose impairments provide possible opportunities for better treatment options. In fact, there are now >1000 genes that have been linked to ASD through genetic studies of more than 10,000 patients and their families. This chapter discusses these discoveries and in the context of recent developments in genomics and bioinformatics, while also examining the trajectory of gene discovery efforts over the past few decades, as both better ascertainment and global attention have been given to this highly vulnerable patient population.


Assuntos
Transtorno do Espectro Autista/genética , Genoma Humano/genética , Genômica , Transtorno do Espectro Autista/complicações , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética
15.
Arch Phys Med Rehabil ; 101(8): 1332-1337, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32109435

RESUMO

OBJECTIVE: To investigate the psychometric properties and efficiency of the computerized adaptive testing system for measuring self-care performance (CAT-SC). The psychometric properties included intrarater and interrater reliabilities, concurrent validity, minimal detectable change, minimal important difference, and responsiveness. DESIGN: Criterion standard study. SETTING: A teaching hospital. PARTICIPANTS: A convenience sample of 60 caregivers of children with developmental disabilities was recruited at the initial assessment, and 95% of the children (N=57) were followed-up at 3 and 6 months. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The CAT-SC and the Pediatric Evaluation of Disability Inventory Chinese version were used at the initial assessment. We assessed the CAT-SC and asked caregivers to rate children's changes in self-care performance with a separate question rated on a 15-point Likert-type scale at the 3- and 6-month follow-ups. RESULTS: The CAT-SC had excellent intrarater and interrater reliabilities (intraclass coefficient=0.99 and 0.92, respectively), high concurrent validity with the Pediatric Evaluation of Disability Inventory (r=0.91-0.92), and trivial to small responsiveness at 3- and 6-month follow-ups (effect size=0.02 and 0.12, standardized response mean=0.08 and 0.33). The minimal detectable change of intrarater reliabilities and the minimal important difference at the first follow-up were 0.22 and 0.17 logits, respectively. The administration time of the CAT-SC was about 5 minutes. CONCLUSIONS: The results of our study validated the sound psychometric properties and good efficiency of the CAT-SC. Moreover, the values of the minimal detectable change and minimal smallest change can be used as a reference for clinicians and caregivers to interpret children's progress.


Assuntos
Deficiências do Desenvolvimento/complicações , Avaliação da Deficiência , Autocuidado , Criança , Pré-Escolar , Computadores , Feminino , Humanos , Lactente , Masculino , Diferença Mínima Clinicamente Importante , Variações Dependentes do Observador , Psicometria , Reprodutibilidade dos Testes , Taiwan
16.
World Neurosurg ; 137: 357-361, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32059966

RESUMO

BACKGROUND: Hemispherectomy has been shown to be successful in treating medically intractable epilepsy, with favorable seizure-free outcomes. However, the procedure is technically challenging with high rates of in-hospital complications. We present a unique case of functional hemispherectomy complicated by diffuse cerebral vasospasm and subsequent death in a patient with COL4A1 gene mutation. CASE DESCRIPTION: A 17-year-old boy presented with right hemispheric epilepsy and a previously diagnosed autosomal dominant heterozygous COL4A1 gene mutation (c.4380T>G;p.Cys1460Trp). Functional hemispherectomy was performed without complications. On postoperative day 8, he developed an acute decline in neurologic status requiring urgent intubation for airway protection. Magnetic resonance imaging revealed areas of restricted diffusion throughout bilateral hemispheres that was explained by severe vasospasm and minimal cerebral blood flow seen on cerebral angiography. Intra-arterial calcium channel blocker infusion and balloon angioplasty were attempted without improvement in perfusion. With a worsening clinical picture, he was transitioned to comfort care and died. CONCLUSIONS: This is the first report in the literature describing global vasospasm and delayed cerebral ischemia following hemispherectomy in a patient carrying COL4A1 gene mutation. We postulate that his COL4A1 gene mutation might have resulted in this exaggerated vasospasm despite minimal residual postoperative subarachnoid hemorrhage burden. This hypothesis needs to be studied in animal models of this genetic disorder.


Assuntos
Isquemia Encefálica/diagnóstico por imagem , Colágeno Tipo IV/genética , Epilepsia Resistente a Medicamentos/cirurgia , Epilepsias Parciais/cirurgia , Hemisferectomia , Porencefalia/genética , Complicações Pós-Operatórias/diagnóstico por imagem , Vasoespasmo Intracraniano/diagnóstico por imagem , Adolescente , Angiografia Digital , Isquemia Encefálica/fisiopatologia , Isquemia Encefálica/terapia , Angiografia Cerebral , Deficiências do Desenvolvimento/complicações , Epilepsia Resistente a Medicamentos/complicações , Epilepsia Resistente a Medicamentos/diagnóstico por imagem , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsias Parciais/complicações , Epilepsias Parciais/diagnóstico por imagem , Epilepsias Parciais/fisiopatologia , Evolução Fatal , Hemianopsia/complicações , Hemiplegia/complicações , Humanos , Masculino , Porencefalia/complicações , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/terapia , Vasoespasmo Intracraniano/fisiopatologia , Vasoespasmo Intracraniano/terapia
17.
JAMA Netw Open ; 3(2): e1921644, 2020 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-32031653

RESUMO

Importance: Autism spectrum disorder (ASD) is highly heritable, and modest contributions of common genetic variants to ASD have been reported. However, the association of genetic risks derived from common risk variants with ASD traits in children from the general population is not clear, and the association of these genetic risks with neurodevelopment in infants has not been well understood. Objective: To test whether a polygenic risk score (PRS) for ASD is associated with neurodevelopmental progress at age 18 months and ASD traits at age 6 years among children from the general population. Design, Setting, and Participants: In this cohort study, 876 children in the Hamamatsu Birth Cohort for Mothers and Children in Hamamatsu, Japan, underwent testing for the association of an ASD PRS with neurodevelopmental progress and ASD traits. Data collection began in December 2007 and is ongoing. Data analysis was conducted from April to December 2019. Main Outcomes and Measures: Summary data from the largest genome-wide association study were used to generate ASD PRSs, and significance of thresholds was calculated for each outcome. The Autism Diagnostic Observation Schedule 2 was used to measure ASD traits at age 6 years, and the Mullen Scales of Early Learning was used to measure neurodevelopmental progress at age 18 months. Results: Of 876 participants (mean [SD] gestational age at birth, 38.9 [1.6] weeks; 438 [50.0%] boys; 868 [99.1%] Japanese), 734 were analyzed. The ASD PRS was associated with ASD traits (R2 = 0.024; ß, 0.71; SE, 0.24; P = .03). The association of ASD PRS with infant neurodevelopment was most pronounced in gross motor (R2 = 0.015; ß, -1.25; SE, 0.39; P = .01) and receptive language (R2 = 0.014; ß, -1.19; SE, 0.39; P = .02) scores on the Mullen Scales of Early Learning. Gene set enrichment analyses found that several pathways, such as cell maturation (R2 = 0.057; ß, -5.28; SE, 1.40; P < .001) and adenylyl cyclase activity and cyclic adenosine monophosphate concentration (R2 = 0.064; ß, -5.30; SE 1.30; P < .001), were associated with ASD traits. Gene sets associated with inflammation were commonly enriched with ASD traits and gross motor skills (eg, chemokine motif ligand 2 production: R2 = 0.051; ß, -6.04; SE, 1.75; P = .001; regulation of monocyte differentiation: R2 = 0.052; ß, -6.63; SE, 1.90; P = .001; and B-cell differentiation: R2 = 0.051; ß, 7.37; SE, 2.15; P = .001); glutamatergic signaling-associated gene sets were commonly enriched with ASD traits and receptive language skills (eg, regulation of glutamate secretion: R2 = 0.052; ß, -5.82; SE, 1.68; P = .001; ionotropic glutamate receptor signaling pathway: R2 = 0.047; ß, 3.54; SE, 1.09; P = .001; and negative regulation of glutamate secretion: R2 = 0.045; ß, -5.38; SE, 1.74; P = .002). Conclusions and Relevance: In this study, the ASD PRS was associated with ASD traits among children from the general population. Genetic risks for ASD might be associated with delays in some neurodevelopmental domains, such as gross motor and receptive language skills.


Assuntos
Transtorno do Espectro Autista , Deficiências do Desenvolvimento , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Criança , Estudos de Coortes , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/genética , Feminino , Predisposição Genética para Doença/epidemiologia , Predisposição Genética para Doença/genética , Estudo de Associação Genômica Ampla , Humanos , Lactente , Masculino , Polimorfismo de Nucleotídeo Único/genética , Medição de Risco
18.
Curr Psychiatry Rep ; 22(2): 9, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-32008108

RESUMO

PURPOSE OF REVIEW: Although treatment algorithms and parameters for best practice are readily available for all major syndromes of psychiatric impairment, the occurrence of psychiatric syndromes in individuals with intellectual and developmental disability (IDD) invokes serious contextual challenges for interpretation of symptoms, diagnosis, and optimization of treatment, both for clinicians and for the service sectors in which care and support of individuals with IDD are delivered. Recognizing that there exist very few definitive resources for best practice under the circumstance of this form of "dual diagnosis," the Missouri Department of Mental Health convened an expert panel to conduct a focused review and synthesis of the relevant scientific literature from which to develop guidance in the form of decision support to clinicians. This article summarizes the findings for three of the most common and impairing clusters of psychiatric symptoms that co-occur with IDD-aggression, depression, and addictions. RECENT FINDINGS: Individuals with IDD are at high risk for the development of psychiatric symptoms (PS), which often manifest uniquely in IDD and for which evidence for effective intervention is steadily accruing. Interventions that are commonly implemented in the IDD service sector (e.g., functional communication training and positive behavioral support planning) are capable of mitigating severe behavioral impairment, yet rarely invoked when dual diagnosis patients are seen in the psychiatric service sector. Conversely, state-of-the-art interventions for traumatic stress, pharmacotherapy, and psychotherapy have proven capable of improving behavioral impairments in IDD but are typically restricted to the psychiatric service sector, where there exist significant barriers to access for patients with IDD, including limitations imposed by diagnostic eligibility and practitioner experience. Bridging these gaps in knowledge and clinical capacity across the respective IDD and PS service sectors should be of very high priority in strategizing the care and support of IDD patients with serious co-occurring psychiatric conditions.


Assuntos
Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Transtornos Mentais/complicações , Transtornos Mentais/diagnóstico , Deficiências do Desenvolvimento/terapia , Humanos , Deficiência Intelectual/terapia , Transtornos Mentais/terapia
19.
Int J Pediatr Otorhinolaryngol ; 131: 109844, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31901483

RESUMO

OBJECTIVE: Identify incidence and factors associated with respiratory complications after type 1 cleft repair. METHODS: Retrospective chart review of patients who underwent cleft repair over a 5-year period performed by a single surgeon. Primary endpoint was respiratory complications (oxygen desaturation <90%). Fisher's exact test was used to identify differences between repair types (endoscopic carbon dioxide laser-assisted repair and injection laryngoplasty). Logistic regression was used to identify predictors of respiratory events. RESULTS: Fifty-five patients were included. Thirty-four (62%) patients underwent endoscopic carbon dioxide laser-assisted repair and 21 (38%) underwent injection laryngoplasty. Average hospital stay for each group was 1.6 days (SD = 3.1) and 0.6 days (SD = 0.9), respectively. Desaturations occurred in three patients (9%) in the laser-assisted repair group and one patient (4%) in the injection group. All occurred within 3 h after surgery and resolved with supplemental oxygen, oral airway placement, and/or mask ventilation. Two affected patients had comorbid diagnosis of asthma (one had poor medication compliance), and one had a history of developmental delay and hypotonia. In the injection group, desaturations occurred in one patient with a history of tracheal stenosis and double aortic arch. No correlation existed between repair type and desaturation (p = 0.57). No variables were significant predictors of events. CONCLUSIONS: In this cohort, respiratory events after type 1 laryngeal cleft repair occurred early in the postoperative period, in children with cardiac and pulmonary comorbidities. This suggests postoperative admission may only be necessary for a select group of patients undergoing type 1 cleft repair. However, further research is needed to determine criteria for same-day discharge.


Assuntos
Anormalidades Congênitas/cirurgia , Laringoplastia/efeitos adversos , Laringoplastia/métodos , Laringe/anormalidades , Oxigênio/sangue , Complicações Pós-Operatórias/etiologia , Asma/complicações , Criança , Pré-Escolar , Estudos de Coortes , Deficiências do Desenvolvimento/complicações , Feminino , Hospitalização , Humanos , Lactente , Recém-Nascido , Injeções , Laringe/cirurgia , Lasers de Gás/uso terapêutico , Tempo de Internação , Masculino , Hipotonia Muscular/complicações , Complicações Pós-Operatórias/sangue , Período Pós-Operatório , Estudos Retrospectivos , Estenose Traqueal/complicações , Anel Vascular/complicações
20.
Eur J Paediatr Neurol ; 24: 35-39, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31924506

RESUMO

By accumulating ever greater amounts of genomic data, scientists have identified >100 genes associated with Mendelian forms of epilepsy and neurodevelopmental disorders with seizures. For most of the identified genes a wide range of genetic variants have been identified and affected patients are clinically heterogeneous. It is not clear to which degree the clinical heterogeneity can be attributed to the disease causing variant alone. We need to improve our current understanding of biophysical effects of variants on protein function and the role of polygenic background in modifying the clinical representation. In addition, longitudinal clinical data need to be recorded using standardized methods and shared across research centers to build large virtual cohorts for each single gene disorder. Without large, comprehensive, longitudinal datasets, studying the interplay of environmental factors and genetic factors will be challenging. As a community, we must work together to set the foundation for biorepositories and the collection and sharing of 'big data' in order to allow genetic-phenotypic characterization of the epilepsies and to fully utilize the potential for drug discovery, and patient-specific tailored management.


Assuntos
Big Data , Deficiências do Desenvolvimento/genética , Epilepsia/genética , Genômica , Pediatria/métodos , Pesquisa Médica Translacional/métodos , Deficiências do Desenvolvimento/complicações , Epilepsia/complicações , Humanos
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