תכנית מדעית

Session 1 : Neurodevelopment

Underutilization of genetic testing in neurodevelopmental disorders in Israel - a large cohort study

D. May, D. Shmueli, R. Barshir, M. Shachar, Shaare Zedek MC, Clalit Health Services, Jerusalem, TAD Center for AI and Data Science, Tel Aviv Univ, Israel

Risk of injury in children with autism spectrum disorder with or without attention‑deficit/hyperactivity disorder - a retrospective cohort study of pediatric emergency department visits in Israel

D. Shmueli, T. Razi, M. Almog, I. Menashe, A. Mimouni Bloch, Child Development Services, Clalit Healthcare, Tel Aviv, Azrieli National Centre for Autism and Neurodevelopment Research, Ben Gurion Univ of the Negev, Beer Sheva, Loewenstein Rehabilitation Medical Center, Ra'anana, Israel

Sex specific trajectories of autism: from pregnancy to adulthood including gender-related camouflage

L.V. Gabis, E. Kasiff, M. Shaham, T. Waisbach, R. Kol, O. Leon Attia, B. Rozenbaum, E. Aydin, Y. Gilboa, A. Tsompanides, C. Allison, R. Holt, S. Baron Cohen, Developmental Services Maccabi Healthcare & Keshet Autism Center Maccabi Wolfson, Israel

  Using personal measure to unmask cognitive decline in pediatric MS, especially in high-achieving patients/ N. Gur, D. Hoofein, T. Pilowsky Peleg, E. Ganelin-Cohen, Hebrew Univ of Jerusalem, Schneider Children’s MC, Petach Tikvah, School of Social Sciences, Tel Aviv-Jaffa Academic College, The National Institute for Neuropsychological Rehabilitation

Neuroglial mechanisms of myelination in Williams syndrome: Insights from Gtf2i deletion and neurological impacts

B. Barak, Sagol School of Neuroscience & The School of Psychological Sciences, Tel Aviv Univ, Israel

Distinct protein expression in umbilical cord blood of individuals with autism spectrum disorder

L. Kalich-Philosoph, B.E Biri, C. Yoffe, P. Baryakh, E. Glick Saar, R. Mayorov, O. Bar-Yosef, Weinberg Child Development Center, Sheba MC, Safra Children Hospital, Tel Hashomer, National Cord Blood Center, Cancer Research Center & Wohl Centre for Translational Medicine, Sheba MC, Israel

Friedreich's ataxia - New horizons

M. Rotstein Dana-Dwek Children's Hospital, Sourasky MC, Tel Aviv, Israel Medison-sponsored talk

HIT 6 - a new Pediatric Headache Assessment questionnaire

J. Genizi, R. Mansour, M. Burbara, Bnei Zion MC, Haifa, Israel

Relationship between parental concerns about social-emotional reciprocity deficits and their children’s final diagnosis of ASD

E. Avni, R. Saban-Bezalel, E. Ben-Itzchak, D.A. Zachor, Ariel Univ, Tel Aviv Univ, Israel

Advancing early childhood developmental surveillance: evaluating the potential of the THIS Developmental Scale for screening applications

Yonatan bilu, Guy Amit, Keren Mayer Lapidot, Noa Garon Sela, Nira Kreber, Pini Akiva, Yair Sadaka, Neuro-Developmental Research Center, Mental Health Institute, Be’er-Sheva, KI Research Institute, Kfar Malal, Ben-Gurion Univ of the Negev, Be’er-Sheva, Israel

A new approach to CBIT: a novel gamified closed-loop intervention for assistance with tic suppression interventions in children

M. Rotstein, Zimmerman-Brenner S, Davidovitch S, Ben-Haim Y, Koryto Y, Sion R,
Rubinstein E, Djerassi M, Lubiniaker N, Peleg TP, Steinberg T, Leitner Y, Raz G. Dana-Dwek Children’s Hospital, Sourasky MC, Tel Aviv, Israel

Nitrous oxide-induced myeloneuropathy due to recreational abuse among adolescents

L. Cohen-Vig, N. Hota, O. Scheuerman, T. Steinberg, I. Krause, J. Genizi, M. Zeidan, S. Aharoni. Schneider Children’s MC of Israel, Petah-Tikva, Israel

Current Treatments in Neurofibromatosis Type 1 and Future Horizons

R. Cohen Schneider Children’s MC of Israel, Petah-Tikva, Israel AstraZeneca-sponsored talk

Cognitive impairments in autoimmune encephalitis: the role of autoimmune antibodies and oligoclonal bands

A. Rozenberg, S. Shelly, A. Vaknin-Dembinsky, T. Freidman-Korn, T. Benoliel-Berman, P. Spector, N. Yarovinski, D. Guber, L. Gutter Kapon, Y. Weksler, E. Ganelin-Cohen, Rambam Health Care Campus, Haifa, Hadassah MC, Ein Kerem, Jerusalem, Carmel MC, Haifa, Sheba MC Tel Hashomer, School of Neurobiology, Biochemistry & Biophysics, Tel Aviv University, Schneider Children's MC of Israel, Petah Tikva, Israel

Exploring the psychological impact of illness perception in children with pediatric onset multiple sclerosis: insights from a parent-child study

R. Aloni, S. Menascu, Multiple Sclerosis Center, Sheba MC Tel Hashomer, Ramat Gan, Department of Psychology, Ariel Univ, Ariel, Tel Aviv Univ, Israel

Motor, cognitive, affective and communication outcomes in patients with sustained opsoclonus-myoclonus-ataxia syndrome (OMS) remission

T. Gur-Hartman, Z. Elyosef, Y. Shimoni, A. Nissenkorn, S. Ravid,T. Lerman-Sagie, S. Ash, L. Blumkin, Edith Wolfson MC, Holon, School of Psychological Sciences, Tel Aviv Univ, Faculty of Education, Univ of Haifa, Open Univ of Israel, Rambam Health Care Campus, Haifa, Technion, Haifa, Schneider Children’s MC of Israel, Petach Tikva, Israel

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management

L. Laugwitz, D.H. Schoenmakers, L. Adang, S. Beck-Wödl, C. Bergner, G. Bernard, A. Bley, A. Boyer,V. Calbi, H. Dekker, F. Eichler, E. Eklund, F. Fumagalli, F. Gavazzi, S.W. Grønborg, Peter van Hasselt, Mirjam Langeveld, Caroline Lindemans, Fanny Mochel, Andreas Oberg, D. Ram, E. Saunier-Vivar, L. Schöls, M.Scholz, C. Sevin, A. Zerem, N.I. Wolf, S. Groeschel, International Experts Panel

Lateral ventricle volume is associated with disease severity in pediatric multiple sclerosis

S. Menascu, M. Gurevich, Multiple Sclerosis Center, Sheba MC, Tel Hashomer, Tel Aviv Univ, Israel

Right hemisphere syndrome

N. Carmi, Safra Children Hospital, Tel Hashomer & Maccabi Healthcare Services

Sleep-related hypermotor seizures vs parasomnias in pediatrics patients: pitfalls of diagnosis

V. Chernuha, Ruth Rappaport Children Hospital, Rambam MC, Haifa, Israel

Session 3: Neurogenetics

Timing of treatment in DHFR deficiency: improved outcomes with early intervention

N. Hamed, Y. Anikster, B. Ben-Zeev, Safra Children’s Hospital, Sheba MC, Tel Hashomer, Israel

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerization

M. Eskin-Schwartz, S. Seraidy, M. Molhem, E. Paz, E. Ranza, S.E. Antonarakis, X. Blanc , K. Herman, W.S. Benko, S. Libzon, L. Ben Sira, A. Fattal-Valevski, V. Dolgin, O.S. Birk, A. Kessel, P. Bross, C. Weiss, A. Azem, A. Zerem, Soroka University MC, Ben-Gurion University of the Negev, Beer-Sheva, Tel Aviv University, Tel Aviv, Israel, Swiss Institute of Genomic Medicine, Geneva, Switzerland, UC Davis MC, Sacramento, California, USA, Dana-Dwek Children's Hospital, Sourasky Medical Center, Tel Aviv, Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, Ben-Gurion University of the Negev, Beer-Sheva, Israel, Aarhus University and Aarhus University Hospital, Aarhus, Denmark

Expanding the neurological phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency

L. Arkush, S. Lassman, E. Zohar-Dayan, S. Dorembus, H. Weisblum, R. Rock, S. Shrot, Y. Anikster, B. Ben Zeev, G. Heimer N. Hamed, Y. Anikster, B. Ben-Zeev, Safra Children’s Hospital, Sheba MC, Tel Hashomer, Israel

Biallelic PIGM variants cause intractable epilepsy and intellectual disability with and without macrocephaly and thrombotic events

G. Heimer, B. Pode-Shakked, M. Tzadoc, D. Marek-Yagel, H. Vernitsky, O. Barel, C. Hoffmann, Y. Anikster, B. Ben Zeev, Sheba MC, Tel Hashomer, Israel

NOTCH1- Leukoencephalopathy, Cysts and Calcification: Differential Diagnosis and Review

M. Gafner, S. Lando -Dotan, N. Asia-Batzir, S. Aharoni, T. Steinberg, R. Straussberg, Schneider Children’s MC, Petach Tikva, Israel

Protein Phosphatase 2 (PP2) Complex-Related Encephalopathies: The Experience of a Rare Disease Center

L. Paz, E. Bane, L. Blumkin, M. Ginsberg, Y. Michaeli, H. Abd Elkarım, R. Hadi, J. Ciğer, R. Ofir, A. Nissenkorn, Edith Wolfson MC, Holon, Israel

Session 4: Neuromuscular

The role of mitochondrial fission and fusion in neurological disorders

M. Ginsberg, Y. Michael,H. Abd Elrahim, L. Blumkin, E. Ban, L. Paz, A. Fattal-Valevski, A. Nissenkorn, Edith Wolfson MC, Holon, Israel

The rising titan: titin (TTN) mutations and neuromuscular diseases in Israel

H. Abd Elrahim, A. Dori, M. Sadeh, M. Ginzburg, L. Blumkin,Y. Michaeli, A. Nissenkorn, Edith Wolfson MC, Sheba Tel Hashomer MC, Israel

Duchenne muscular dystrophy - medications submitted to the healthcare basket 2025

Experts Panel: Y. Nevo, S. Aharoni, L. Sagi, M. Ginzburg, R. Lavi, A. Aran Roche, Megapharm, Neopharm, Trumed -sponsored talk

Lessons learned from carrier screening for Duchenne muscular dystrophy

L. Sagi-Dain, Carmel MC, Haifa, Israel

Newborn screening for spinal muscular atrophy

A. Fattal Valevski Dana-Dwek Children's Hospital, Sourasky MC, Tel Aviv, Israel Novartis-sponsored talk

Session 5 : Epilepsy

Efficacy and side effects of fenfluramine in children with epileptic encephalopathy of Dravet and Lennox Gastaut in Israel

S. Uliel-Sibony, Dana-Dwek Children's Hospital, Sourasky MC, Tel Aviv, Israel 

When infantile spasms are treated with surgery: A case of mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE)

A. Hleihil, I. Ben-Zvi, H. Goldberg-Stern, A. Pshytycky, A. Kershenovich, D. Kraus, Schneider Children's MC of Israel

Factors predicting the quality of life in children with epilepsy and their parents

T. Gilboa, H. Fogel-Grinvald, S. Blumenfeld, M. Nativ, H. Gaber, F. Freed Alhaj, A. Golos, Hadassah MC & School of Occupational Therapy, Hebrew Univ, Jerusalem, Israel

Vigabatrin treatment for the prevention of infantile spasms after severe perinatal brain injury and neonatal seizures, a multicenter prospective open-label pilot trial

I. Segal, D. Cayam-Rand, O. Bennett, H. Bassan, Emek MC, Afula, Israek, Shaare Zedek MC, Jerusalem, Israek, Assaf Harofeh MC, Rishon Leziyon, Israel