Rett syndrome and Angelman syndrome are rare genetic disorders that affect neurological development. Rett syndrome mostly affects young girls and causes rapid degeneration and delayed development. More than 90% of Rett syndrome cases are caused by a MECP2 mutation. Angelman syndrome is also rare and causes symptoms such as ataxia, seizures, delayed development, expressive language disorder, and hyperactivity. It is caused by a mutation in the UBE3A gene, resulting in loss of function. Individuals with Angelman syndrome are often known for their outgoing personalities and frequent laughter.

Services provided by the clinic include medical evaluation, genetic counseling, developmental assessment, medication management, and individualized rehabilitation and educational programs. The clinic also provides family counseling to help parents and caregivers better understand the disease and develop effective coping strategies.

The joint care clinic operates on the fourth Monday morning of every month at the clinics 34 to 37 on the second floor of the hospital. Patients or their caregivers can contact the clinic's staff through the phone number (02-23123456, extension 271618) for inquiries or suggestions.

NTU Children's Hospital - Rett and Angelman Syndrome Joint Care Clinic (ntuh.gov.tw)

Childhood neuromuscular diseases refer to a rare group of conditions caused by genetic mutations or inherited genes that lead to progressive muscle weakness and atrophy in children. While neuromuscular diseases are mainly characterized by progressive muscle weakness and motor function impairment, their impact also includes systemic diseases throughout the body, causing extreme physical and mental burden for patients and their families, as well as increased social care costs. The following are the main medical issues that most patients may face: neurological and muscular aspects, orthopedic aspects, rehabilitation aspects, respiratory and sleep aspects, cardiac aspects, gastrointestinal and nutritional aspects, endocrine aspects, learning aspects, psychological aspects, dental aspects, related medical resource aspects, palliative care and end-of-life care issues.

NTU Children's Hospital - Pediatric Neuromuscular Disease Medical Team and Integrated Care Clinic (ntuh.gov.tw))

1. "Down Syndrome Integrated Clinic" provides high-quality care services and convenient medical treatment for patients with Down syndrome, making it convenient for patients to seek medical treatment while saving time and money. Patients can receive complete services from the medical team.
2. "Down Syndrome Integrated Clinic" is by appointment only. If the patient has not been seen in our hospital before, Please contact the genetic counselor to arrange for the integrated clinic.

NTU Children's Hospital - Down Syndrome Integrated Clinic (ntuh.gov.tw)

Tuberous sclerosis is a very complex disease and a rare genetic disease. By integrating the operations of outpatient clinics, doctors from various disciplines can immediately discuss and jointly decide on the most appropriate diagnosis and treatment for special and complex cases. Because detailed information and assessments from other areas are also available, a comprehensive understanding of the disease condition is obtained. Tuberous Sclerosis Complex (TSC) Integrated Clinic currently adopts a physician appointment system. If the patient has not been seen at our hospital before, he or she can contact a genetic counselor to arrange medical arrangements for the integrated clinic.

NTU Children's Hospital - Tuberous Sclerosis Complex (TSC) Integrated Clinic (ntuh.gov.tw)

For children with developmental delays, our hospital provides comprehensive consultation services staffed by pediatric physiatrists, pediatric psychiatrists, pediatric neurologists, pediatric otolaryngologists, dentists, other medical specialists, and social workers. Consultation services are available every 2nd and 4th Wednesday of the month during morning office hours. A referral by a physician who has seen the child is required to schedule.

NTU Children's Hospital - Early Intervention Comprehensive Consultation Services in Combined Clinic (ntuh.gov.tw)