Child Neurology

Telephone
 +81-859-38-6777
Fax
+81-859-38-6779

Staff

Professor : Yoshihiro Maegaki
Associate professor : Tohru Okanishi
Assistant Professor : Yuko Nakamura
Assistant Professor : Sotaro Kanai
Assistant Professor : Go Yoshino
Assistant Professor : Kento Ota
Assistant Professor : Kensuke Kumasaki
Assistant Professor : Tatsuo Hosoda
medical staff : Yukino Kawanami
medical staff : Yu Uehara
medical staff : Masaya Nakamura

Features of the Department

The Department of Child Neurology includes the Department of Gene Diagnosis and Therapy. Our department is focused on investigating and treating child-onset neuromuscular disease, epilepsy, cerebral palsy, mental retardation, learning difficulties, and pervasive developmental disorders.

Research areas

• Development and practice of chemical chaperon therapy for Gaucher’s disease
• Development of anti-cytokine therapy for neurodegeneration in lysosomal diseases
• Research on neural circuitry disturbance in developmental disorders
• Examining plasticity in child-onset brain disturbances
• Investigating diseases affecting patients diagnosed with developmental disorders in adulthood
• Clarifying the pathology of perinatal brain disorders
• Molecular biological diagnosis of neuronal ceroid lipofuscinosis
• Investigating the pathology of neurodegeneration associated with deficits of factors involved in repairing DNA damage
• Neurological examination of post-streptococcal autoimmune neuropsychiatric disease (PANDAS)
• Clarifying the pathology of refractory epilepsy

Department Characteristics

The Division of Child Neurology provides specialized care for a wide range of neurological conditions, including neurodevelopmental disorders, epilepsy, headaches, tic disorders, intellectual disabilities, cerebral palsy, chromosomal abnormalities, encephalitis/encephalopathy, inherited metabolic disorders, and neuromuscular diseases. We also manage neurological emergencies such as status epilepticus and acute encephalopathy.
Our department offers the following distinctive diagnostic and therapeutic services:

• We perform approximately 50 long-term video electroencephalography (video-EEG) monitoring studies annually for patients with drug-resistant epilepsy, and collaborate with external institutions to provide epilepsy surgery. We also conduct comprehensive evaluations including genetic and metabolic testing for epilepsy.
• We provide gene therapy for neuromuscular disorders such as spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD), and are designated as one of the limited centers in Japan capable of delivering such advanced therapies.
• We offer extensive outpatient care for children with neurodevelopmental disorders, including autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), in collaboration with rehabilitation facilities.
• We provide advanced treatments for cerebral palsy, including botulinum toxin injections and intrathecal baclofen (ITB) therapy.
• We deliver comprehensive home-based medical care for children with severe motor and intellectual disabilities (SMID).
• In collaboration with the Department of Clinical Genetics, we perform genetic testing for a wide range of neurological and neuromuscular disorders.
• Through the Office for Promoting Child Mental Health Care, we work closely with regional medical, health, welfare, and educational institutions to build a comprehensive support network aimed at improving the quality of life (QOL) of children, including their mental well-being.

 

Key Research Themes and Initiatives

a. Pathophysiology and Treatment Optimization of Infantile Epileptic Spasms Syndrome (IESS)
Infantile epileptic spasms syndrome (IESS) is a severe and treatment-resistant epilepsy that begins in infancy and remains a central topic in pediatric neurology. We conduct nationwide studies investigating treatment strategies, underlying etiologies, and clinical backgrounds of IESS. Our goal is to identify more effective and optimized treatment approaches.

b. Physiological Mechanisms and Treatment of Pediatric Epilepsy
We analyze electroencephalography (EEG) data using advanced computational methods in IESS and other epilepsies to objectively and non-invasively predict clinical outcomes. This research aims to establish personalized, patient-specific (“tailor-made”) treatment strategies.

c. Epidemiology and Early Diagnosis of Acute Encephalopathy
Acute encephalopathy is a major cause of acquired brain injury in children. Although relatively common in Japan, its true incidence and long-term outcomes remain unclear. We are conducting epidemiological studies in Tottori Prefecture to identify clinical symptoms and laboratory findings that enable earlier diagnosis.

d. Early Diagnosis of Acute Encephalopathy Using EEG Analysis
MRI is an essential diagnostic tool; however, abnormalities are often not detectable during the early phase of acute encephalopathy. In contrast, EEG can detect early functional changes in brain activity. We are developing novel diagnostic methods using computational EEG analysis to identify characteristic patterns and differentiate acute encephalopathy from febrile seizures at an early stage.

e. Disaster Preparedness for Children with Medical Complexity
Approximately 130 children with medical care needs live at home in Tottori Prefecture. Ensuring their safety during large-scale disasters is an urgent issue. We collaborate with the hospital’s Emergency Medical Center and the Tottori Prefectural Government to establish and manage welfare evacuation centers for these vulnerable children.

f. Understanding Secondary Disorders in Neurodevelopmental Conditions
Children with neurodevelopmental disorders, such as ASD and ADHD, may develop secondary disorders due to environmental factors such as bullying or family stress. These include:
 • Externalizing disorders: behavioral problems such as aggression and defiance
 • Internalizing disorders: emotional difficulties such as anxiety, depression, and social withdrawal
Identifying and preventing these secondary conditions is essential for supporting healthy development and long-term outcomes.

g. Development of Diagnostic Tools for Dyscalculia
Dyscalculia is a learning disorder characterized by difficulties in understanding numbers and mathematics, affecting approximately 3–6% of children. However, standardized diagnostic tools are currently lacking. We are developing evaluation tools and training applications from a medical perspective to facilitate early identification and appropriate educational support.

International Collaboration

We actively accept international researchers, including PhD students and visiting scholars. To date, we have hosted trainees from Indonesia, Egypt, China, Kazakhstan, the United Kingdom, the Philippines, and Vietnam, for periods ranging from one month to four years.