OSLO UNIVERSITY HOSPITAL

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY OSLO UNIVERSITY HOSPITAL

Access to specific treatment and interventions:

• Highly specialized Intensive Care Units for newborns, children and adults: Emergency medical treatment for patient with metabolic crises, advanced ventilator management, hypothermia treatment, dialysis, Ectracorporeal Membrane Oxygenation Treatment (ECMO).
• Paediatric  and Adult  Metabolic and Neurological Departments/ day -care facilities providing care,treatment and follow-up for  most congenital  metabolic diseases  in general including neurodegenerative diseases, neurotransmitter deficiencies and lysosomal disorders. Involves intrathecal neurotransmitter treatment/DBS adjustments,  enzyme replacement therapy approved for Gaucher, Fabry, Pompe, mucopolysaccharidoses (type I, II, IV and VI  ). Substrate reduction therapy: EMA approved for Gaucher and Niemann Pick type C. Intrathecal treatment for Niemann Pick type C (experimental). Local injection treatment for spasticity with botulinum toxin.
• Highly specialized dietician  service for children and adults with metabolic diseases, including clinics for eating and swallowing disabilities
• Rehabilitation clinics: Patients with a disability (including metabolic disorders) are referred to  habilitation service for interdisciplinary follow-up (e.g speech and language therapists, psychologist, neuropsychological testing, neurologist etc), dental services for rare diseases (http://www.tako.no)
• Social care service: Social health care workers in collaboration with child psychiatrist/psychologist and personnel at the Centre for Rare Diseases: Facilitates follow-up and support patients and caretakers with their economical and social rights and provides information to the local community (day-care, school, local health services).
• Advanced Domestic Hospital service (treatment at home) for children with chronic illness including palliative care.

Access to specialized diagnostics and interventions:

• Genetic laboratory  and  clinical genetic counseling including: Whole exome sequencing service, gene panels including mitochondrial diseases and metabolic diseases (https://oslo-universitetssykehus.no/avdelinger/klinikk-for-laboratoriemedisin/avdeling-for-medisinsk-genetikk/enhet-for-hts-diagnostikk-genpaneler)
• Newborn biochemical screening including 2.tier next generation sequencing  in blood spot samples for 20 metabolic diseases with turn-around time 2-5 working days.
• Specialized metabolic diagnostic laboratory  for screening of metabolites in blood/urine/cerebrospinal fluid, enzyme diagnostics and DNA analysis
• Neurosugery: Cervical spine decompression, lumbar spine decompression and stabilization, ventricular peritoneal shunts, stereotactic surgery, intrathecal baclophen pumps, deep brain stimulation devices (DBS), surgery for epilepsy.
• Specialized orthopedic services available for musculoskeletal treatment, carpal tunnel decompression syndrome, corsetts, orthoses, insoles, braces, splints and movement and gait clinics
• Neuroradiology (CT, MRI/MRS, PET), neurophysiology (EEG, EMG and neurography, VEP, SEP, AEP, BERA), contrast swallow studies.
• Transplantation centres: Bone marrow/stemcell transplantations (MPS-1, X-ALD ), heart,  liver, pancreas and  kidney transplantation
• Department of child and adult psychiatry, neuropsychological and behavioral testing.
• Specialized medical and surgical departments for children and adults: ophtalmology, ear-nose-throat, cardiology, nephrology, urology, neurology, lung,  liver and kidney (including biopsy facilities) and department for Pathology studies.