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1.
Telemed J E Health ; 2024 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-38966964

RESUMEN

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.
Artículo en Inglés | MEDLINE | ID: mdl-35037687

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Niño , Femenino , Humanos , Masculino , Embarazo , Proteínas de Unión al ADN , Estudios Retrospectivos , Ultrasonografía
3.
Community Ment Health J ; 55(1): 156-160, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-29388003

RESUMEN

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.


Asunto(s)
Árabes/estadística & datos numéricos , Trastorno del Espectro Autista/epidemiología , Judíos/estadística & datos numéricos , Árabes/psicología , Preescolar , Femenino , Humanos , Lactante , Israel/epidemiología , Judíos/psicología , Masculino , Prevalencia , Índice de Severidad de la Enfermedad
5.
Behav Genet ; 46(6): 754-762, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27515661

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista/genética , Evolución Biológica , Genoma Humano , Humanos , Modelos Genéticos , Análisis Multivariante , Curva ROC , Selección Genética
6.
PLoS Comput Biol ; 9(7): e1003128, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23935468

RESUMEN

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.


Asunto(s)
Trastorno Autístico/genética , Encéfalo/metabolismo , Perfilación de la Expresión Génica , Animales , Ratones , Ratones Endogámicos C57BL
7.
Autism Res ; 17(2): 410-418, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-38193609

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Trastornos Generalizados del Desarrollo Infantil , Niño , Humanos , Preescolar , Lactante , Adolescente , Trastorno del Espectro Autista/epidemiología , Israel/epidemiología , Prevalencia
8.
J Neurodev Disord ; 16(1): 29, 2024 Jun 07.
Artículo en Inglés | MEDLINE | ID: mdl-38849752

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Aceptación de la Atención de Salud , Trastornos del Sueño-Vigilia , Humanos , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/terapia , Masculino , Femenino , Trastornos del Sueño-Vigilia/epidemiología , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/terapia , Niño , Estudios Transversales , Estudios Retrospectivos , Aceptación de la Atención de Salud/estadística & datos numéricos , Preescolar , Comorbilidad , Adolescente , Hospitalización/estadística & datos numéricos
9.
bioRxiv ; 2024 Jan 12.
Artículo en Inglés | MEDLINE | ID: mdl-38260528

RESUMEN

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.

11.
Nat Genet ; 34(2): 143-4, 2003 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12730696

RESUMEN

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.


Asunto(s)
Receptores Odorantes/genética , Animales , Población Negra/genética , Genoma Humano , Genotipo , Humanos , Familia de Multigenes , Pan troglodytes/genética , Fenotipo , Polimorfismo de Nucleótido Simple , Seudogenes
12.
J Pharm Policy Pract ; 16(1): 78, 2023 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-37365657

RESUMEN

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.

13.
Int J Rheum Dis ; 26(10): 1923-1931, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37443460

RESUMEN

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.

14.
J Autism Dev Disord ; 53(12): 4535-4544, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36222994

RESUMEN

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.


Asunto(s)
Trastorno del Espectro Autista , Trastornos del Desarrollo del Lenguaje , Niño , Humanos , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/psicología , Estudios Retrospectivos , Lenguaje , Trastornos del Desarrollo del Lenguaje/diagnóstico , Trastornos del Desarrollo del Lenguaje/psicología , Atención a la Salud
15.
Autism ; 27(6): 1628-1640, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-36632654

RESUMEN

LAY ABSTRACT: Today, children with autism spectrum disorder (ASD) are placed in mainstream or special education settings somewhat arbitrarily with no clear clinical recommendations. Here, we compared changes in core ASD symptoms, as measured by the Autism Diagnostic Observation Schedule, 2nd edition (ADOS-2) clinical assessment, across ASD preschool children placed in special or mainstream education. Longitudinal changes in ADOS-2 scores did not differ significantly across settings over a 1- to 2-year period. While some children improved in core ASD symptoms, others deteriorated in both settings. This highlights the need to identify specific criteria for establishing meaningful placement recommendations.


Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Preescolar , Humanos , Trastorno del Espectro Autista/diagnóstico , Integración Escolar , Educación Especial
16.
Res Child Adolesc Psychopathol ; 51(10): 1511-1520, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37231233

RESUMEN

Early diagnosis and treatment of autism spectrum disorder (ASD) has been shown to lead to better prognosis. Here, we examined the association of commonly measured early developmental milestones (DMs) with later diagnosis of ASD. We conducted a case-control study of 280 children with ASD (cases) and 560 typically developed children (controls) matched to cases by date of birth, sex, and ethnicity in a control/case ratio of 2:1. Both cases and controls were ascertained from all children whose development was monitored at mother-child health clinics (MCHCs) in southern Israel. DM failure rates during the first 18 months of life in three developmental categories (motor, social, and verbal) were compared between cases and controls. Conditional logistic regression models were used to assess the independent association of specific DMs with the risk of ASD, while adjusting for demographic and birth characteristics.Significant case-control differences in DM failure rates were observed as early as 3 months of age (p < 0.001), and these differences increased with age. Specifically, cases were 2.4 times more likely to fail ≥ 1 DM at 3 months (aOR = 2.39; 95%CI = 1.41-4.06), and 15.3 times more likely to fail ≥ 3 DMs at 18 months (aOR = 15.32; 95%CI = 7.75-30.28). The most notable DM-ASD association was observed for social DM failure at 9-12 months (aOR = 4.59; 95%CI = 2.59-8.13). Importantly, the sex or ethnicity of the participants did not affect these DM-ASD associations. Our findings highlight the potential role of DMs as early signs of ASD that could facilitate earlier referral and diagnosis of ASD.


Asunto(s)
Trastorno del Espectro Autista , Humanos , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/complicaciones , Estudios de Casos y Controles , Israel/epidemiología , Modelos Logísticos , Tiempo
17.
Sci Rep ; 13(1): 18853, 2023 11 01.
Artículo en Inglés | MEDLINE | ID: mdl-37914828

RESUMEN

Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs). However, interpreting these variants' functional and clinical consequences requires integrating multifaceted genomic information. We compared the concordance and effectiveness of three bioinformatics tools in detecting ASD candidate variants (SNVs and short INDELs) from WES data of 220 ASD family trios registered in the National Autism Database of Israel. We studied only rare (< 1% population frequency) proband-specific variants. According to the American College of Medical Genetics (ACMG) guidelines, the pathogenicity of variants was evaluated by the InterVar and TAPES tools. In addition, likely gene-disrupting (LGD) variants were detected based on an in-house bioinformatics tool, Psi-Variant, that integrates results from seven in-silico prediction tools. Overall, 372 variants in 311 genes distributed in 168 probands were detected by these tools. The overlap between the tools was 64.1, 22.9, and 23.1% for InterVar-TAPES, InterVar-Psi-Variant, and TAPES-Psi-Variant, respectively. The intersection between InterVar and Psi-Variant (I âˆ© P) was the most effective approach in detecting variants in known ASD genes (PPV = 0.274; OR = 7.09, 95% CI = 3.92-12.22), while the union of InterVar and Psi Variant (I U P) achieved the highest diagnostic yield (20.5%).Our results suggest that integrating different variant interpretation approaches in detecting ASD candidate variants from WES data is superior to each approach alone. The inclusion of additional criteria could further improve the detection of ASD candidate variants.


Asunto(s)
Trastorno del Espectro Autista , Humanos , Secuenciación del Exoma , Trastorno del Espectro Autista/diagnóstico , Trastorno del Espectro Autista/genética , Predisposición Genética a la Enfermedad , Biología Computacional , Genómica
18.
Child Adolesc Psychiatry Ment Health ; 17(1): 123, 2023 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-37891596

RESUMEN

OBJECTIVE: Melatonin is considered an effective pharmacological treatment for the sleep disturbances that are reported in > 50% of children with autism spectrum disorder (ASD). However, real-life data about the long-term course and effectiveness of melatonin treatment in children with ASD is lacking. METHODS: In this retrospective cohort study, we assessed the adherence to melatonin treatment and parents' perspective of its effect on sleep quality and daytime behavior in children with ASD via a parental phone survey of children in the Azrieli National Center for Autism and Neurodevelopment Research (ANCAN) database. Cox regression analysis was used to assess the effect of key demographic and clinical characteristics on treatment adherence. RESULTS: Melatonin was recommended for ~ 8% of children in the ANCAN database. These children were characterized by more severe symptoms of autism. The median adherence time for melatonin treatment exceeded 88 months, with the most common reason for discontinuation being a lack of effectiveness (14%). Mild side-effects were reported in 14% of children, and 86%, 54%, and 45% experienced improvements in sleep onset, sleep duration and night awakenings, respectively. Notably, melatonin also improved the daytime behaviors of > 28% of the children. Adherence to treatment was independently associated with improvements in night awakenings and educational functioning (aHR = 0.142, 95%CI = 0.036-0.565; and aHR = 0.195, 95%CI = 0.047-0.806, respectively). CONCLUSIONS: Based on parents' report, melatonin is a safe and effective treatment that improves both sleep difficulties and daily behavior of children with ASD.

19.
J Neurodev Disord ; 15(1): 21, 2023 07 21.
Artículo en Inglés | MEDLINE | ID: mdl-37480057

RESUMEN

BACKGROUND: Parent reports suggest that 44-84% of children with ASD exhibit sleep disturbances that are of clinical concern. Previous studies have reported that, in children with ASD, the severity of sleep disturbances is associated with the severity of either sensory problems or aberrant behaviors, but none have performed combined analyses with measures of both sensory and aberrant behaviors symptom domains from the same children. METHODS: We examined parent reports of 237 children with ASD, 1.4-8.7 years old, using the child sleep habits questionnaire (CSHQ), sensory profile (SP), and aberrant behaviors checklist (ABC). RESULTS: The analyses revealed that sleep disturbances were most strongly associated with SP sensory sensitivity and ABC irritability scores. Together these scores explained 35% of the variance in total CSHQ scores. Moreover, sensory sensitivity scores moderated the association between irritability and sleep disturbances, indicating that sleep disturbances were significantly associated with irritability only in children with moderate to severe sensory sensitivities. CONCLUSION: We suggest that the three symptom domains may interact and exacerbate each other such that successful intervention in one symptom domain may have positive impact on the others. Further intervention studies testing this hypothesis are highly warranted.


Asunto(s)
Trastorno del Espectro Autista , Trastornos del Sueño-Vigilia , Humanos , Niño , Lactante , Preescolar , Trastornos del Sueño-Vigilia/complicaciones , Trastornos del Sueño-Vigilia/epidemiología , Trastorno del Espectro Autista/complicaciones
20.
PLoS One ; 18(3): e0279172, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36881606

RESUMEN

BACKGROUND: The outcome of patients with chronic kidney disease (CKD) and acute kidney injury (AKI) is often dismal and measures to ameliorate their course are scarce. When admitted to the hospital, kidney patients are often hospitalized in general Medicine wards rather than in a specialized Nephrology department. In the current study, we compared the outcome of two cohorts of kidney patients (CKD and AKI) admitted either to general open-staff (with rotating physicians) Medicine wards or to a closed-staff (non-rotating Nephrologists) Nephrology ward. METHODS: In this population-based retrospective cohort study, we enrolled 352 CKD patients and 382 AKI patients admitted to either Nephrology or General Medicine wards. Short-term (< = 90 days) and long-term (>90 days) outcomes were recorded for survival, renal outcomes, cardiovascular outcomes, and dialysis complications. Multivariate analysis was performed using logistic regression and negative binomial regression adjusting to potential sociodemographic confounders as well as to a propensity score based on the association of all medical background variables to the admitted ward, to mitigate the potential admittance bias to each ward. RESULTS: One hundred and seventy-one CKD patients (48.6%) were admitted to the Nephrology ward and 181 (51.4%) were admitted to general Medicine wards. For AKI, 180 (47.1%) and 202 (52.9%) were admitted to Nephrology and general Medicine wards, respectively. Baseline age, comorbidities and the degree of renal dysfunction differed between the groups. Using propensity score analysis, a significantly reduced mortality rate was observed for kidney patients admitted to the Nephrology ward vs. general Medicine in short term mortality (but not long-term mortality) among both CKD patients admitted (OR = 0.28, CI = 0.14-0.58, p = 0.001), and AKI patients (or = 0.25, CI = 0.12-0.48, p< 0.001). Nephrology ward admission resulted in higher rates of renal replacement therapy (RRT), both during the first hospitalization and thereafter. CONCLUSIONS: Thus, a simple measure of admission to a specialized Nephrology department may improve kidney patient outcome, thereby potentially affecting future health care planning.


Asunto(s)
Lesión Renal Aguda , Medicina General , Nefrología , Insuficiencia Renal Crónica , Humanos , Estudios Retrospectivos , Riñón , Hospitalización , Lesión Renal Aguda/terapia , Insuficiencia Renal Crónica/complicaciones , Insuficiencia Renal Crónica/terapia
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