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1.
Telemed J E Health ; 2024 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-38966964

RESUMO

Objective: Patient satisfaction is an imperative factor in integrating telehealth services as a treatment modality in health care systems. Here, we compared patient satisfaction from telehealth versus in-person health care visits in a large heterogeneous population. Methods: We conducted a retrospective cohort study of patients making telehealth or in-person primary care visits between January 2021 and August 2022. Patient satisfaction with both service types was evaluated using a validated survey. Logistic regression models were employed to assess the association between type of visit (in-person/telehealth) and patient satisfaction (satisfied/unsatisfied) while accounting for sociodemographic and clinical characteristics. Results: Of the 247,087 surveys included in the study, 86,580 (35%) were answered following telehealth visits. Telehealth visitors were more satisfied than in-person visitors in aspects related to doctor-patient interactions, such as "courtesy and respect," "attentive listening," and "coherent explanations" (aOR = 1.17, 95% CI: 1.14-1.21; aOR = 1.16, 95% CI: 1.12-1.19; aOR = 1.15, 95% CI: 1.12-1.18, respectively), and less satisfied in aspects related to indirect services, such as adherence to appointment scheduling, effort required on the part of the patient, and staff cooperation (aOR = 0.95, 95% CI: 0.93-0.97; aOR = 0.89, 95% CI: 0.87-0.91; aOR = 0.85, 95% CI: 0.83-0.87, respectively). Importantly, considerably more telehealth visits were delayed (44%) than in-person visits (27%). Adjustment for this factor further strengthened the observed association between telehealth services and patient satisfaction. Conclusions: While telehealth was associated with high levels of satisfaction in doctor-patient interaction, improvements are still needed in indirect services. Addressing issues related to staff cooperation and streamlining processes to reduce delays could improve overall patient satisfaction with telehealth.

2.
Brain ; 145(12): 4519-4530, 2022 12 19.
Artigo em Inglês | MEDLINE | ID: mdl-35037687

RESUMO

Multiple pieces of evidence support the prenatal predisposition of autism spectrum disorder (ASD). Nevertheless, robust data about abnormalities in foetuses later developing into children diagnosed with ASD are lacking. Prenatal ultrasound is an excellent tool to study abnormal foetal development as it is frequently used to monitor foetal growth and identify foetal anomalies throughout pregnancy. We conducted a retrospective case-sibling-control study of children diagnosed with ASD (cases); their own typically developing, closest-in-age siblings (TDS); and typically developing children from the general population (TDP), matched by year of birth, sex and ethnicity to investigate the association between ultrasonography foetal anomalies and ASD. The case group was drawn from all children diagnosed with ASD enrolled at the National Autism Research Center of Israel. Foetal ultrasound data from the foetal anatomy survey were obtained from prenatal ultrasound clinics of Clalit Health Services in southern Israel. The study comprised 659 children: 229 ASD, 201 TDS and 229 TDP. Ultrasonography foetal anomalies were found in 29.3% of ASD cases versus only 15.9% and 9.6% in the TDS and TDP groups [adjusted odds ratio (aOR) = 2.23, 95% confidence interval (CI) = 1.32-3.78, and aOR = 3.50, 95%CI = 2.07-5.91, respectively]. Multiple co-occurring ultrasonography foetal anomalies were significantly more prevalent among ASD cases. Ultrasonography foetal anomalies in the urinary system, heart, and head and brain were the most significantly associated with ASD diagnosis (aORUrinary = 2.08, 95%CI = 0.96-4.50 and aORUrinary = 2.90, 95%CI = 1.41-5.95; aORHeart = 3.72, 95%CI = 1.50-9.24 and aORHeart = 8.67, 95%CI = 2.62-28.63; and aORHead&Brain = 1.96, 95%CI = 0.72-5.30 and aORHead&Brain = 4.67, 95%CI = 1.34-16.24; versus TDS and TDP, respectively). ASD females had significantly more ultrasonography foetal anomalies than ASD males (43.1% versus 25.3%, P = 0.013) and a higher prevalence of multiple co-occurring ultrasonography foetal anomalies (15.7% versus 4.5%, P = 0.011). No sex differences were seen among TDS and TDP controls. ASD foetuses were characterized by a narrower head and a relatively wider ocular-distance versus TDP foetuses (ORBPD = 0.81, 95%CI = 0.70-0.94, and aOROcular distance = 1.29, 95%CI = 1.06-1.57). Ultrasonography foetal anomalies were associated with more severe ASD symptoms. Our findings shed important light on the multiorgan foetal anomalies associated with ASD.


Assuntos
Transtorno do Espectro Autista , Criança , Feminino , Humanos , Masculino , Gravidez , Proteínas de Ligação a DNA , Estudos Retrospectivos , Ultrassonografia
3.
Community Ment Health J ; 55(1): 156-160, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29388003

RESUMO

The vast majority of autism spectrum disorder (ASD) research focuses on Caucasian populations in western world countries. While it is assumed that autism rates are similar across ethnic groups regardless of genetic background and environmental exposures, few studies have specifically examined how autism prevalence and severity may differ between majority and minority populations with distinct characteristics. Therefore, we evaluated ethnic differences in ASD prevalence and severity of Bedouin-Arab and Jewish children in the south of Israel. We compared demographic and clinical characteristics of 104 children from a Bedouin-Arab minority with 214 Jewish children who were referred to the main ASD clinic in Southern Israel with suspected communication disorders. Data were obtained from medical records. Jewish children's referral rates were almost 6 times more than that of Bedouin-Arab referral rates (21:1000 and 3.6:1000, respectively). The percentage of high functioning children with ASD was much higher in Jewish than in Bedouin-Arab children (29.6 and 2.6%, respectively). Bedouin-Arab children showed more severe autistic manifestations. Moreover, Bedouin-Arab children were more likely than Jewish children to have additional diagnosis of intellectual disability (14.5 and 6.9%, respectively). Autism prevalence and severity differs markedly between the Bedouin-Arab and Jewish populations in the south of Israel. Most striking is the almost complete absence of children with high-functioning autism in the Bedouin community. A better understanding of the causes for autism prevalence and severity differences across ethnic groups is crucial for revealing the impact of multiple genetic and environmental factors that may affect autism development in each group.


Assuntos
Árabes/estatística & dados numéricos , Transtorno do Espectro Autista/epidemiologia , Judeus/estatística & dados numéricos , Árabes/psicologia , Pré-Escolar , Feminino , Humanos , Lactente , Israel/epidemiologia , Judeus/psicologia , Masculino , Prevalência , Índice de Gravidade de Doença
5.
Behav Genet ; 46(6): 754-762, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27515661

RESUMO

Autism spectrum disorder (ASD) is a common heritable neurodevelopmental disorder, which is characterized by communication and social deficits that reduce the reproductive fitness of individuals with the disorder. Here, we studied the genomic characteristics of 651 ASD genes in a whole-exome sequencing dataset, to search for traces of the evolutionary forces that helped maintain ASD in the human population. We show that ASD genes are ~65 longer and ~20 % less variable than non-ASD genes. The mutational shortage in ASD genes was particularly eminent when considering only deleterious genetic variations, which is a hallmark of negative selection. We further show that these genomic characteristics are unique to ASD genes, as compared with brain-specific genes or with genes of other diseases. Our findings suggest that ASD genes have evolved under complex evolutionary forces, which have left a unique signature that can be used to identify new candidate ASD genes.


Assuntos
Transtorno do Espectro Autista/genética , Evolução Biológica , Genoma Humano , Humanos , Modelos Genéticos , Análise Multivariada , Curva ROC , Seleção Genética
6.
PLoS Comput Biol ; 9(7): e1003128, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23935468

RESUMO

Autism spectrum disorder (ASD) is one of the most prevalent and highly heritable neurodevelopmental disorders in humans. There is significant evidence that the onset and severity of ASD is governed in part by complex genetic mechanisms affecting the normal development of the brain. To date, a number of genes have been associated with ASD. However, the temporal and spatial co-expression of these genes in the brain remain unclear. To address this issue, we examined the co-expression network of 26 autism genes from AutDB (http://mindspec.org/autdb.html), in the framework of 3,041 genes whose expression energies have the highest correlation between the coronal and sagittal images from the Allen Mouse Brain Atlas database (http://mouse.brain-map.org). These data were derived from in situ hybridization experiments conducted on male, 56-day old C57BL/6J mice co-registered to the Allen Reference Atlas, and were used to generate a normalized co-expression matrix indicating the cosine similarity between expression vectors of genes in this database. The network formed by the autism-associated genes showed a higher degree of co-expression connectivity than seen for the other genes in this dataset (Kolmogorov-Smirnov P = 5×10⁻²8). Using Monte Carlo simulations, we identified two cliques of co-expressed genes that were significantly enriched with autism genes (A Bonferroni corrected P<0.05). Genes in both these cliques were significantly over-expressed in the cerebellar cortex (P = 1×10⁻5) suggesting possible implication of this brain region in autism. In conclusion, our study provides a detailed profiling of co-expression patterns of autism genes in the mouse brain, and suggests specific brain regions and new candidate genes that could be involved in autism etiology.


Assuntos
Transtorno Autístico/genética , Encéfalo/metabolismo , Perfilação da Expressão Gênica , Animais , Camundongos , Camundongos Endogâmicos C57BL
7.
J Affect Disord ; 369: 71-79, 2024 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-39321983

RESUMO

BACKGROUND: The health ramifications of adolescent obesity are understudied in the Israeli Arab population, and the impact of ethnicity on the association of obesity with mental health problems is unclear. AIM: To examine the association of weight categories with Anxiety, Depression and Attention-Deficit/Hyperactivity Disorder (ADHD) among Arab adolescents in Israel and to compare this association to a Jewish comparison group. METHODS: A cross-sectional nationwide study of 313,936 Arab adolescents aged 14-19 years between the years 2007-2022, and 289,616 Jewish adolescents in a comparison group. RESULTS: The aORs for Anxiety, Depression and ADHD in Arab adolescents increased from a reference 'normal weight' category to 'class 3 obesity', reaching aORs (95 % CI) of 1.31 (1.16-1.47), 1.64 (1.31-2.02) and 1.51 (1.40-1.63) in 'class 2 obesity', and 1.51 (1.20-1.87), 2.81(2.00-3.84) and 1.69 (1.45-1.96) in 'class 3 obesity', respectively. The dose-dependent association between weight categories and psychiatric comorbidity was confirmed in sensitivity analyses with comorbidity with the purchase of medications serving as the dependent variable. The Jewish comparison group demonstrated a comparable increment in aORs with increase in weight category. The association between excessive weight categories and psychiatric comorbidities was stronger in Arab females, than in males. LIMITATIONS: Relying on the recorded weight and height measurements and the diagnoses of psychiatric comorbidity could lead to bias. CONCLUSION: The study findings emphasize the need to relate to the mental health of adolescents with excessive weight, which can improve their overall quality of life and the success of adolescent weight loss intervention programs.

8.
J Clin Med ; 13(18)2024 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-39336869

RESUMO

Objectives. The health consequences of adolescent obesity are understudied in young adult Israeli Arabs. We aimed to evaluate the association of weight categories during adolescence with hypertension (HTN), diabetes mellitus type 2 (DM2), and the composite endpoint of ischemic stroke (IS), myocardial infarction (MI), and heart failure (HF) in young adult Israeli Arabs on a nationwide level. Methods. A retrospective cohort study of 53,726 Arab adolescents born from 1988-1992 was conducted. The cohort was followed, beginning with BMI measurements at ages 17-19 years, until whichever came first among the diagnosis of outcome disease, death, discontinuation of health insurance, or age of 30 years. Results. The incidence (95% CI) of HTN, DM2, and the composite endpoint of IS, MI, and HF was 138.2 (129.1-147.9), 136.7 (127.6-146.3), and 27.3 (23.3-31.7) cases per 105 person-years, respectively. The risk for DM and HTN increased gradually, starting from the 'overweight' category, and reaching fully adjusted HRs (95% CI) of 2.80 (1.82-4.30), and 1.97 (1.31-2.96), respectively, in the 'class 3 obesity' category. The Hazard ratio (HR) for the composite endpoint, its incidence and components, was highest in the 'overweight' category (aHR of 1.64 (1.08-2.50)). Conclusions. The findings emphasize the long-term health consequences of adolescent obesity in early adulthood and, hence, the need for interventions aimed at reducing the rate of adolescent overweight and obesity. The finding of a very high rate of DM2 incidence in early adulthood, even among adolescents without obesity, necessitates an integrated public health approach to all risk factors to prevent DM2 in this population.

9.
Autism Res ; 17(8): 1696-1704, 2024 08.
Artigo em Inglês | MEDLINE | ID: mdl-39114960

RESUMO

Breastfeeding is associated with medical and developmental benefits. This study aimed to assess associations between nutritional patterns in the first year of life and the likelihood of autism spectrum disorder (ASD). 270 children diagnosed with ASD (cases) and 500 neurotypical children (controls) matched to cases by sex, ethnicity, and birth date (± 3 months) were included in this retrospective case-control study. Both groups were ascertained from children born between 2014 and 2017 whose development/nutrition were monitored at mother-child health clinics in southern Israel. Conditional logistic regression was used to determine the independent association of nutritional patterns with ASD while adjusting for socio-demographic and clinical characteristics. Both exclusive and partial breastfeeding modes were associated with decreased odds of ASD diagnosis (aOR = 0.221, 95%CI = 0.136-0.360; aOR = 0.494, 95%CI = 0.328-0.743, respectively). A breastfeeding duration of >12 months was associated with lower ASD odds (aOR = 0.418, 95%CI = 0.204-0.855), while the introduction of solids after 6 months of age was associated with higher ASD odds than the introduction of solids at 6 months (aOR = 2.455, 95%CI = 1.116-4.201). These findings suggest that a longer period of exclusive breastfeeding is associated with a subsequent reduced likelihood of ASD diagnosis, thus reiterating the importance of proper post-natal nutrition for infant neurodevelopment.


Assuntos
Transtorno do Espectro Autista , Aleitamento Materno , Humanos , Aleitamento Materno/estatística & dados numéricos , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/diagnóstico , Feminino , Masculino , Lactente , Estudos Retrospectivos , Estudos de Casos e Controles , Israel/epidemiologia , Pré-Escolar , Recém-Nascido
10.
Autism Res ; 2024 Oct 10.
Artigo em Inglês | MEDLINE | ID: mdl-39385709

RESUMO

Recent neuroimaging and eye-tracking studies have suggested that children with autism exhibit more variable and idiosyncratic brain responses and eye movements than typically developing (TD) children. Here, we extended this research to pupillometry recordings. We successfully acquired pupillometry recordings from 111 children (74 with autism), 4.5-years-old on average, who viewed three 90 s movies, twice. We extracted their pupillary time-course for each movie, capturing their stimulus evoked pupillary responses. We then computed the correlation between the time-course of each child and those of all others in their group as well as between each autistic child and all children in the TD group. This yielded an average inter-subject correlation value per child, representing how similar their pupillary responses were to all others in their group or the comparison group. Children with autism exhibited significantly weaker inter-subject correlations than TD children in all comparisons. These differences were independent of previously reported differences in gaze inter-subject correlations and were largest in responses to a naturalistic movie containing footage of a social interaction between two TD children. The results demonstrate the utility of measuring the idiosyncrasy of pupil regulation, which can be performed with passive viewing of movies even by young children with co-occurring intellectual disability. These findings reveal that a considerable number of children with autism have significantly less stable, idiosyncratic pupil regulation than TD children, indicative of more variable, weakly regulated, underlying neural activity.

11.
J Neurodev Disord ; 16(1): 55, 2024 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-39350038

RESUMO

BACKGROUND: Recent evidence suggests that certain fetal anomalies detected upon prenatal ultrasound screenings are associated with autism spectrum disorder (ASD). In this cross-sectional study, we aimed to identify genetic variants associated with fetal ultrasound anomalies (UFAs) in children with ASD. METHODS: The study included all children with ASD who are registered in the database of the Azrieli National Center of Autism and Neurodevelopment and for whom both prenatal ultrasound and whole exome sequencing (WES) data were available. We applied our in-house integrative bioinformatics pipeline, AutScore, to these WES data to prioritize rare, gene-disrupting variants (GDVs) probably contributing to ASD susceptibily. Univariate statistics and multivariable regression were used to assess the associations between UFAs and GDVs identified in these children. RESULTS: The study sample comprised 126 children, of whom 43 (34.1%) had at least one UFA detected in the prenatal ultrasound scan. A total of 87 candidate ASD genetic variants were detected in 60 children, with 24 (40%) children carrying multiple variants. Children with UFAs were more likely to have loss-of-function (LoF) mutations (aOR = 2.55, 95%CI: 1.13-5.80). This association was particularly noticeable when children with structural anomalies or children with UFAs in their head and brain scans were compared to children without UFAs (any mutation: aOR = 8.28, 95%CI: 2.29-30.01; LoF: aOR = 5.72, 95%CI: 2.08-15.71 and any mutation: aOR = 6.39, 95%CI: 1.34-30.47; LoF: aOR = 4.50, 95%CI: 1.32-15.35, respectively). GDVs associated with UFAs were enriched in genes highly expressed across all tissues (aOR = 2.76, 95%CI: 1.14-6.68). There was a weak, but significant, correlation between the number of mutations and the number of abnormalities detected in the same children (r = 0.21, P = 0.016). CONCLUSIONS: The results provide valuable insights into the potential genetic basis of prenatal organogenesis abnormalities associated with ASD and shed light on the complex interplay between genetic factors and fetal development.


Assuntos
Transtorno do Espectro Autista , Sequenciamento do Exoma , Ultrassonografia Pré-Natal , Humanos , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/diagnóstico por imagem , Feminino , Masculino , Criança , Gravidez , Estudos Transversais , Pré-Escolar , Variação Genética , Predisposição Genética para Doença
12.
J Neurodev Disord ; 16(1): 29, 2024 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-38849752

RESUMO

BACKGROUND: Sleep disturbances are frequently reported in children with autism spectrum disorder (ASD) and are associated with the severity of co-occurring symptoms. This study's aim was to examine the extent of healthcare utilization and clinical outcomes associated with sleep disturbances in children with ASD. STUDY DESIGN: A retrospective, cross-sectional study of 541 children with ASD from the Azrieli National Center for Autism and Neurodevelopment Research (ANCAN) whose parents completed the Children's Sleep Habits Questionnaire (CSHQ). Children with a total CSHQ score ≥ 48 were defined as having sleep disturbances. Sociodemographic characteristics, ASD diagnostic measures, chronic co-occurring conditions, medication usage, hospitalizations, visits to the emergency room (ER), and visits to specialists were compared in ASD children with and without sleep disturbances. Multivariate logistic regression models were then used to assess the independent association of sleep disturbances with clinical characteristics and healthcare utilization. RESULTS: Of the 541 children with ASD, 257 (47.5%) had sleep disturbances. Children with sleep disturbances exhibited higher rates of multiple (≥ 3) co-occurring conditions (19.1% vs. 12.7%; p = 0.0414) and prescribed medications (45.5% vs. 32.7%; p = 0.0031) than other children. Finally, ASD children with sleep disturbances were 1.72 and 2.71 times more likely to visit the ER and be hospitalized than their counterparts (aOR = 1.72; 99%CI = 1.01-2.95; and aOR = 2.71; 99%CI = 1.10-6.67, respectively). CONCLUSIONS: Our findings suggest that sleep disturbances are associated with greater healthcare utilization among children with ASD. Further studies could examine whether treating sleep disturbances in children with ASD yields additional clinical benefits beyond improvements in sleep.


Assuntos
Transtorno do Espectro Autista , Aceitação pelo Paciente de Cuidados de Saúde , Transtornos do Sono-Vigília , Humanos , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/terapia , Masculino , Feminino , Transtornos do Sono-Vigília/epidemiologia , Transtornos do Sono-Vigília/etiologia , Transtornos do Sono-Vigília/terapia , Criança , Estudos Transversais , Estudos Retrospectivos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Pré-Escolar , Comorbidade , Adolescente , Hospitalização/estatística & dados numéricos
13.
bioRxiv ; 2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38260528

RESUMO

Recent neuroimaging and eye tracking studies have suggested that children with autism spectrum disorder (ASD) may exhibit more variable and idiosyncratic brain responses and eye movements than typically developing (TD) children. Here we extended this research for the first time to pupillometry recordings. We successfully completed pupillometry recordings with 103 children (66 with ASD), 4.5-years-old on average, who viewed three 90 second movies, twice. We extracted their pupillary time-course for each movie, capturing their stimulus evoked pupillary responses. We then computed the correlation between the time-course of each child and those of all others in their group. This yielded an average inter-subject correlation value per child, representing how similar their pupillary responses were to all others in their group. ASD participants exhibited significantly weaker inter-subject correlations than TD participants, reliably across all three movies. Differences across groups were largest in responses to a naturalistic movie containing footage of a social interaction between two TD children. This measure enabled classification of ASD and TD children with a sensitivity of 0.82 and specificity of 0.73 when trained and tested on independent datasets. Using the largest ASD pupillometry dataset to date, we demonstrate the utility of a new technique for measuring the idiosyncrasy of pupil regulation, which can be completed even by young children with co-occurring intellectual disability. These findings reveal that a considerable subgroup of ASD children have significantly more unstable, idiosyncratic pupil regulation than TD children, indicative of more variable, weakly regulated, underlying neural activity.

14.
Autism Res ; 17(2): 410-418, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38193609

RESUMO

Accurate estimation of annual changes in autism spectrum disorders (ASD) prevalence is critical for planning the expansion of diagnostic, education, and intervention services at an adequate rate. Previous studies from Israel have reported that ASD prevalence among 8-year-old children has increased from estimates of 0.3% in 2008 to 0.65% in 2015 and 1.3% in 2018. Here, we analyzed data acquired from the National Insurance Institute of Israeli (NII), a governmental organization that approves and monitors all ASD children who receive welfare services in Israel, and Clalit Health Services (CHS), the largest Health Maintenance Organization in Israel that provides health services to ~52% of the population. Data from both sources included annual data files from 2017 to 2021 containing the number of ASD cases per year of birth for 1-17-year-old children. This allowed us to estimate annual ASD prevalence among 3.5 million children born between 2000 and 2020 in Israel. Both data sources revealed a nearly two-fold increase in ASD prevalence among 1-17-year-old children from 2017 to 2021. Estimated prevalence rates differed across age groups with 2-3-year-old (day-care) children increasing from 0.27% to 1.19% (>4 fold change), 4-6-year-old (pre-school) children increasing from 0.8% to 1.83%, and 8-year-old children increasing from 0.82% to 1.56% in NII data. These results demonstrate that autism prevalence continues to increase in Israel with a shift towards diagnosis at earlier ages. These findings highlight the challenge facing health and education service providers in meeting the needs of a rapidly growing autism population.


Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Transtornos Globais do Desenvolvimento Infantil , Criança , Humanos , Pré-Escolar , Lactente , Adolescente , Transtorno do Espectro Autista/epidemiologia , Israel/epidemiologia , Prevalência
15.
JAMA Netw Open ; 7(9): e2432851, 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39264628

RESUMO

Importance: Stereotypical motor movements (SMMs) are a form of restricted and repetitive behavior, which is a core symptom of autism spectrum disorder (ASD). Current quantification of SMM severity is extremely limited, with studies relying on coarse and subjective caregiver reports or laborious manual annotation of short video recordings. Objective: To assess the utility of a new open-source AI algorithm that can analyze extensive video recordings of children and automatically identify segments with heterogeneous SMMs, thereby enabling their direct and objective quantification. Design, Setting, and Participants: This retrospective cohort study included 241 children (aged 1.4 to 8.0 years) with ASD. Video recordings of 319 behavioral assessments carried out at the Azrieli National Centre for Autism and Neurodevelopment Research in Israel between 2017 and 2021 were extracted. Behavioral assessments included cognitive, language, and autism diagnostic observation schedule, 2nd edition (ADOS-2) assessments. Data were analyzed from October 2020 to May 2024. Exposures: Each assessment was recorded with 2 to 4 cameras, yielding 580 hours of video footage. Within these extensive video recordings, manual annotators identified 7352 video segments containing heterogeneous SMMs performed by different children (21.14 hours of video). Main outcomes and measures: A pose estimation algorithm was used to extract skeletal representations of all individuals in each video frame and was trained an object detection algorithm to identify the child in each video. The skeletal representation of the child was then used to train an SMM recognition algorithm using a 3 dimensional convolutional neural network. Data from 220 children were used for training and data from the remaining 21 children were used for testing. Results: Among 319 behavioral assessment recordings from 241 children (172 [78%] male; mean [SD] age, 3.97 [1.30] years), the algorithm accurately detected 92.53% (95% CI, 81.09%-95.10%) of manually annotated SMMs in our test data with 66.82% (95% CI, 55.28%-72.05%) precision. Overall number and duration of algorithm-identified SMMs per child were highly correlated with manually annotated number and duration of SMMs (r = 0.8; 95% CI, 0.67-0.93; P < .001; and r = 0.88; 95% CI, 0.74-0.96; P < .001, respectively). Conclusions and relevance: This study suggests the ability of an algorithm to identify a highly diverse range of SMMs and quantify them with high accuracy, enabling objective and direct estimation of SMM severity in individual children with ASD.


Assuntos
Algoritmos , Transtorno do Espectro Autista , Gravação em Vídeo , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Masculino , Feminino , Estudos Retrospectivos , Lactente , Transtorno de Movimento Estereotipado/diagnóstico , Comportamento Estereotipado , Israel
17.
Nat Genet ; 34(2): 143-4, 2003 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12730696

RESUMO

Of more than 1,000 human olfactory receptor genes, more than half seem to be pseudogenes. We investigated whether the most recent of these disruptions might still segregate with the intact form by genotyping 51 candidate genes in 189 ethnically diverse humans. The results show an unprecedented prevalence of segregating pseudogenes, identifying one of the most pronounced cases of functional population diversity in the human genome.


Assuntos
Receptores Odorantes/genética , Animais , População Negra/genética , Genoma Humano , Genótipo , Humanos , Família Multigênica , Pan troglodytes/genética , Fenótipo , Polimorfismo de Nucleotídeo Único , Pseudogenes
18.
Int J Rheum Dis ; 26(10): 1923-1931, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37443460

RESUMO

AIM: The cost to the healthcare system of management and treatment for fibromyalgia patients is high. The aims of the study were to identify and compare factors associated with the use of healthcare services among fibromyalgia patients in southern Israel from two ethnic groups. METHODS: A cross-sectional study of patients insured in the southern district of the Clalit Healthcare Services in Israel in 2019-2020. The data were collected from the central computerized system. Multivariable regression models were developed for healthcare services utilization. RESULTS: During the study period, 7686 members were diagnosed with fibromyalgia. The median for specialist consultations was 47 and for imaging tests was eight. About 47% made emergency room visits and 25% were hospitalized. The median of imaging tests was significantly higher in Jewish patients than in Arab patients (8 vs. 6; p = .000). In contrast, a significantly higher rate of Arab patients visited the Emergency Room at least once (51.6% vs. 46.75%; p = .000) and they had a higher median number or Emergency Room visits (2 vs. 1; p = .003), compared with Jewish patients. In the Arab group there was a strong effect coefficient for another localized pain syndrome with specialist consultations (odds ratio [OR] 1.699; 95% confidence interval [CI] 1.266-2.241) and imaging tests (OR 2.511; 95% CI 1.496-4.146). CONCLUSIONS: The utilization rate of healthcare services is high among fibromyalgia patients. The factors associated with high healthcare utilization are different in the two ethnic groups. Future studies could show if interventions designed to address modifiable factors could reduce the overutilization of healthcare services.

19.
J Pharm Policy Pract ; 16(1): 78, 2023 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-37365657

RESUMO

BACKGROUND: Our aims were to compare fibromyalgia (FM) rate, drug treatment and factors associated with the use of opiates in two ethnic sectors. METHODS: A retrospective cross-sectional study in southern district of Israel was performed on diagnosed FM patients in 2019-2020 [7686 members (1.50%)]. Descriptive analyses were conducted and multivariable models for the use of opiates were developed. RESULTS: There were significant differences between the two ethnic groups in FM prevalence at 1.63% and 0.91% in the Jewish and Arab groups, respectively. Only 32% of the patients used recommended medications and about 44% purchased opiates. Age, BMI, psychiatric co-morbidity, and treatment with a recommended drug were similarly associated with an increased risk for opiate use in both ethnic groups. However, male gender was associated with × 2 times reduced risk to use opiates only among the Bedouins (aOR = 0.552, 95%CI = 0.333-0.911). In addition, while in both of ethnic groups the existence of another localized pain syndrome was associated with an increased risk for opiates use, this risk was 4 times higher in the Bedouin group (aOR = 8.500, 95%CI = 2.023-59.293 and aOR = 2.079, 95%CI = 1.556-2.814). CONCLUSIONS: The study showed underdiagnosis of FM in the minority Arab ethnicity. Female Arab FM patients in low or high, compared to middle socio-economic status, were a risk group for excess opiate use. Increased use of opiates and very low rate of purchase of recommended drugs point to a lack of effectiveness of these drugs. Future research should assess whether the treatment of treatable factors can reduce the dangerous use of opiates.

20.
J Autism Dev Disord ; 53(12): 4535-4544, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36222994

RESUMO

Previous studies have reported that ASD children with more severe symptoms are diagnosed earlier. However, previous studies in community settings have mostly relied on retrospective parental reports without the use of quantitative standardized test scores. Here, we evaluated the association of language, cognitive, and ASD severity standardized scores with the age of diagnosis in 1-6-year-old children diagnosed in a public healthcare setting. The results revealed that language scores were the strongest variable associated with the age of diagnosis, explaining ~ 30% of the variability across children. Indeed, all children diagnosed before 30-months of age exhibited moderate-to-severe language delays. These results further substantiate the prominence of language delay as a highly visible symptom associated with earlier ASD diagnosis in community clinical settings.


Assuntos
Transtorno do Espectro Autista , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/psicologia , Estudos Retrospectivos , Idioma , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/psicologia , Atenção à Saúde
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