A5003561104- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Cannabis and Cannabinoid Research
- Sleep and Wakefulness Research
- Sleep and related disorders
- Cerebral Palsy and Movement Disorders
- Attention Deficit Hyperactivity Disorder
- Bacillus and Francisella bacterial research
- Genomics and Rare Diseases
- Infant Development and Preterm Care
- Pancreatic function and diabetes
- Family and Disability Support Research
- Cellular transport and secretion
- Disaster Response and Management
- Viral Infections and Outbreaks Research
- RNA modifications and cancer
- Child Nutrition and Feeding Issues
- Behavioral and Psychological Studies
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Respiratory Support and Mechanisms
- Genomic variations and chromosomal abnormalities
- Pain Management and Placebo Effect
- Child Development and Digital Technology
- Adenosine and Purinergic Signaling
Shaare Zedek Medical Center
2015-2024
Hebrew University of Jerusalem
1994-2024
Hadassah Medical Center
2016-2024
Children's Hospital at Montefiore
2017-2018
California Center for Sleep Disorders
2018
Radboud University Medical Center
2017
Université de Rouen Normandie
2017
Radboud University Nijmegen
2017
Normandie Université
2017
Bar-Ilan University
2017
Narcolepsy-cataplexy has long been thought to have an autoimmune origin. Although susceptibility narcolepsy, like many conditions, is largely genetically determined, environmental factors are involved based on the high discordance rate (~75%) of monozygotic twins. This study evaluated whether Streptococcus pyogenes and Helicobacter pylori infections triggers for narcolepsy. Retrospective, case-control. Sleep centers general hospitals. 200 patients with narcolepsy/hypocretin deficiency, a...
Design, Patients, and Setting:Retrospective series of 51 children who completed the Stanford Sleep Inventory. HLA-DQB1*0602 typing (all tested, 100% positive), polysomnography or Multiple Latency Test (76%), cerebrospinal fluid hypocretin-1 measurements (26%, all with low levels) were also conducted. Prospective data on medication response was collected in 78% using a specially designed questionnaire.
Abstract Background Endocannabinoid dysfunction in animal models of autism spectrum disorder (ASD) and accumulating, albeit anecdotal, evidence for efficacy humans motivated this placebo-controlled double-blind comparison two oral cannabinoid solutions 150 participants (age 5–21 years) with ASD. Methods We tested (1) BOL-DP-O-01-W, a whole-plant cannabis extract containing cannabidiol Δ9-tetrahydrocannabinol at 20:1 ratio (2) BOL-DP-O-01, purified the same ratio. Participants ( N = 150)...
The endocannabinoid system (ECS) is a major regulator of synaptic plasticity and neuromodulation. Alterations the ECS have been demonstrated in several animal models autism spectrum disorder (ASD). In some these models, activating rescued social deficits. Evidence for dysregulations human ASD are emerging, but comprehensive assessments correlations with disease characteristics not reported yet. Serum levels main endocannabinoids, N-arachidonoylethanolamine (AEA or anandamide)...
To determine the prevalence and characteristics of copy number variations (CNVs) in children with cerebral palsy (CP) unknown etiology, comprising approximately 20% CP population.Fifty-two participants (age 10.5 ± 7.8 years; Gross Motor Function Classification System scale 2.8 1.3) nonprogressive pyramidal and/or extrapyramidal signs since infancy no identified etiology were enrolled. Individuals evidence acquired causes excluded. Participants underwent neurologic clinical genetic...
Abstract Autism spectrum disorders (ASDs) include a wide range of neurodevelopmental disorders. Several reports showed that mutations in different high‐risk ASD genes lead to ASD. However, the underlying molecular mechanisms have not been deciphered. Recently, they reported dramatic increase nitric oxide (NO) levels mouse models. Here, conducted multidisciplinary study investigate role NO High nitrosative stress biomarkers are found both Shank3 and Cntnap2 Pharmacological intervention with...
Autism spectrum disorder (ASD) is often associated with debilitating sleep disturbances. While anecdotal evidence suggests the positive effect of cannabinoids, randomized studies are lacking. Here, we report effects cannabinoid treatment on 150 children and adolescents ASD, as part a double-blind, placebo-controlled study that assessed impact behavior (NCT02956226). Participants were randomly assigned to one following three treatments: (1) whole-plant cannabis extract, containing cannabidiol...
Early diagnosis of autism spectrum disorder (ASD) is crucial for providing appropriate treatments and parental guidance from an early age. Yet, ASD a lengthy process, in part due to the lack reliable biomarkers. We recently applied RNA-sequencing peripheral blood samples 73 American Israeli children with 26 neurotypically developing (NT) identify 10 genes dysregulated expression levels ASD. Machine learning (ML) analyzes data by computerized analytical model building may be diagnostic tools...
Introduction Autism spectrum disorder (ASD) is a neurodevelopmental affecting approximately 3% of school-age children. The core symptoms are deficits in social communication and restricted repetitive patterns behavior. Associated problems cognition, language, behavior, sleep mood prevalent. Currently, no established pharmacological treatment exists for ASD symptoms. Risperidone aripiprazole used to manage associated irritability, but their effectiveness limited adverse events common.
Abstract Background Accidental injuries are a leading cause of paediatric morbidity and mortality. We hypothesized that attention deficit hyperactivity disorder (ADHD), common childhood characterized by behaviours such as impulsivity, is risk factor for accidental injuries. Previous retrospective studies suggested children with ADHD have an increased injury rate, but controlled prospective lacking. Methods conducted case–control study 29 school‐aged their same‐sex, similarly aged,...
Background. Information on the causative agents of acute otitis media (AOM) in infants <2 months age is limited. Objectives study. To analyze etiology, pathogen susceptibility patterns, clinical presentation and frequency serious bacterial infections with AOM to determine relationship between organisms isolated systemically those from middle ear fluid patients presence AOM. Methods. The medical records 137 who underwent tympanocentesis emergency room Soroka University Medical Center January...
To retrospectively describe childhood presentations of primary hypersomnia with an emphasis on narcolepsy-cataplexy in a Chinese population. A total 417 children (< 18 years old) successively presenting complaints without anatomic cause or sleep apnea risk were evaluated using the Stanford Sleep Inventory, human leukocyte antigen (HLA) DQB1*0602 typing, and MSLT recordings. CSF hypocretin-1 was measured 47 cases to document hypocretin deficiency. subgroup ("narcolepsy/hypocretin deficiency")...
A previous study has suggested that the Human Leukocyte Antigen (HLA) allele DQB1*06:02 affects hypoxic ventilatory response (HVR) but not hypercapnic (HCVR) in an Asian population. The current evaluated relationship Caucasians and Asians. In addition we assessed whether gender or polymorphisms genes participating control of breathing affect HVR HCVR.A re-breathing system was used to measure HCVR 551 young adults (56.8% Caucasians, 30% Asians). HLA-DQB1*06:02 tagged coding variants (PHOX2B,...
Abstract Autism spectrum disorders (ASDs) include a range of developmental that share core neurobehavioral deficits manifested by abnormalities in social interactions, communication, restricted interests, and repetitive behaviors. Several reports showed mutations different high-risk ASD genes, including SHANK3 CNTNAP2 , lead to ASD. However, date, the underlying molecular mechanisms have not been deciphered, no effective pharmacological treatment has established for Recently, we reported...
To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.Identification responsible gene whole exome sequencing homozygosity mapping.Ten patients from 4 consanguineous Palestinian families manifested in utero with intrauterine growth retardation. Postnatally, had progressive severe neonatal seizures, virtually no milestones. Brain...
Objective To identify the genetic basis of a childhood-onset syndrome variable severity characterised by progressive spinocerebellar ataxia, mental retardation, psychotic episodes and cerebellar atrophy. Methods Identification underlying mutations whole exome genome sequencing. Consequences were examined in patients’ cells yeast. Results Two brothers from consanguineous Palestinian family presented with retardation episodes. Serial brain imaging showed severe Whole sequencing revealed novel...
To identify the genetic basis of a recessive congenital neurologic syndrome characterized by severe hypotonia, arthrogryposis, and respiratory failure.Identification responsible gene exome sequencing assessment effect mutation on protein stability in transfected rat neuronal-like PC12A123.7 cells.Two brothers from nonconsanguineous Yemeni Jewish family manifested at birth with hypotonia arthrogryposis. The older brother died failure 5 days age. proband, now 4.5 years old, has been...