A5003413482- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Attention Deficit Hyperactivity Disorder
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- Eating Disorders and Behaviors
- Obesity, Physical Activity, Diet
- Neurogenetic and Muscular Disorders Research
- Metabolomics and Mass Spectrometry Studies
- Amino Acid Enzymes and Metabolism
- Genetics and Neurodevelopmental Disorders
- Neonatal and fetal brain pathology
- RNA modifications and cancer
- Cerebral Venous Sinus Thrombosis
- Genetic Neurodegenerative Diseases
- Cerebrospinal fluid and hydrocephalus
- Celiac Disease Research and Management
- Spinal Dysraphism and Malformations
- Nosocomial Infections in ICU
- Neuroscience and Neuropharmacology Research
- Fetal and Pediatric Neurological Disorders
- Autism Spectrum Disorder Research
- Infant Development and Preterm Care
- Infections and bacterial resistance
- Neuroscience of respiration and sleep
Tel Aviv University
2016-2025
Boston Children's Hospital
2023-2025
Harvard University
2023-2025
Tel Aviv Sourasky Medical Center
2021-2024
Schneider Children's Medical Center
2019-2024
Edmond and Lily Safra Children's Hospital
2016-2021
Sheba Medical Center
2016-2021
The lockdown that was imposed by governments as part of the attempt to contain COVID-19 pandemic included extreme measures, such home confinement and shutting down special education systems. Our aim learn about core experiences parents children with autism during this significant life disturbance. Thirty-one 25 participated in semi-structured telephone interviews which were transcribed verbatim underwent a qualitative, immersion/crystallization analysis. analysis conducted an iterative...
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare inherited metabolic disorder caused by defect of γ-aminobutyrate (GABA) catabolism. Despite the resultant hyper-GABAergic environment facilitated defect, individuals with this have paradoxically high prevalence epilepsy. We aimed to study characteristics epilepsy in SSADHD and its concordance GABA-related metabolites neurophysiologic markers cortical excitation.
Abstract Background Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within Boston Children’s Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including NIH-sponsored natural history study clinical, neurophysiological, neuroimaging, molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, development murine for tightly regulated,...
The antisense oligonucleotide nusinersen (Spinraza) regulates splicing of the survival motor neuron 2 (SMN2) messenger RNA to increase SMN protein expression. Nusinersen has improved ventilator-free and function outcomes in infantile onset forms spinal muscular atrophy (SMA), treated early course disease. However, response later SMA is highly variable dependent on symptom severity disease duration at treatment initiation. Therefore, we aimed identify novel noninvasive biomarkers that could...
To elucidate the etiological aspects of autism spectrum disorder (ASD) in succinic semialdehyde dehydrogenase deficiency (SSADHD), related to dysregulation γ-aminobutyric acid (GABA) and imbalance excitatory inhibitory neurotransmission.In this prospective, international study, individuals with SSADHD underwent neuropsychological assessments, as well biochemical, neurophysiological, neuroimaging evaluations.Of 29 (17 females) enrolled (median age [IQR] 10 years 5 months [5 11 months-18 1...
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a neurometabolic disorder caused by ALDH5A1 mutations presenting with autism and epilepsy. SSADHD leads to impaired GABA metabolism results in accumulation of γ-hydroxybutyrate (GHB), which alter neurotransmission are thought lead neurobehavioral symptoms. However, why increased inhibitory neurotransmitters seizures remains unclear. We used induced pluripotent stem cells from patients (one female two male) differentiated them into...
Epilepsy is estimated to exist in approximately 40% of individuals with cerebral palsy; however, the specific features that make it drug resistant are not well defined. The main aim this study was determine clinical risk factors could predict drug-resistant epilepsy, children palsy. performed via a retrospective chart review, analyzing parameters 118 palsy either epilepsy or controlled between years 2013 and 2018. We established predictive model for simple apply settings composed additive...
Night eating syndrome (NES) is an disorder (ED) characterized by nocturnal ingestion (NI), evening hyperphagia, morning anorexia, as well mood and sleep disturbances. This study compared subjective objective quality ED-related psychopathologies in patients seeking treatment for ED. Method: The sample was composed of 170 women, aged 18-68, who were referred ED assessment from 2011 to 2020. participants divided into three subgroups: NES-NI only (n = 30), NES+ binge (BE) (including disorders or...
Disordered eating behaviors (DEBs) may lead to full blown disorders. Both type 1 diabetes mellitus (T1DM) and celiac disease (CD) have been linked DEBs.To compare the presence of DEBs between adolescents young adults with a dual diagnosis T1DM CD, individuals only one diagnoses.Individuals CD ("T1DM + group" n = 39), 97) ("CD 267) filled Eating Attitude Test-26 (EAT-26) questionnaire. Those completed in addition Diabetes Problem Survey-Revised (DEPS-R).The study population comprised 403...
Objective The number of transgender and gender non-conforming children is on the rise. For these children, timing medical intervention crucial, yet report poorer overall physical mental health outcomes compared with their cisgender peers. We aim to describe how paediatricians perceive people. Setting ‘Transgender Attitudes Beliefs Scale’, which consists 29 items in three domains—human value, interpersonal comfort sex/gender beliefs—was administered 391 senior resident Israel. responses a...
Background: Stenotrophomonas maltophilia is a life-threatening nosocomial pathogen with profound multidrug-resistant attributes. It associated high mortality, particularly in immunocompromised patients. Data on therapy for S. infections are scarce, especially children hospitalized intensive care settings (pediatric unit). Methods: A retrospective chart review of pediatric patients isolates over 5-year period 2 units. Results: Thirty-one and 91 from blood, respiratory secretions soft tissues...