ERN-ITHACA – Bratislava Center

National Institute of Childrens Diseases
Neurocentre
Limbová 1
83340 Bratislava
SLOVAKIA

Lead

Scope

The area of expertise of Bratislava Centre, as member of the ITHACA European Reference Network (ERN), covers Spina Bifida and all syndromes exhibiting developmental anomalies and/or intellectual disability (ID) from the fetus to adulthood. This includes the wide specters of congenital anomalies and multidisciplinary approach.

About 1/40 newborn has a congenital malformation (261/10000 fetuses and newborn following EuroCAt reports), and 1/40 has ID. Therefore, 3 to 5 % of all human births show or will develop a developmental anomaly, among which at least 25-50% are of genetic or genomic origin. This huge population represents in reality the juxtaposition of a very large number of individually rare disorders showing an extreme diversity of causes and phenotypes. The jurisdiction and scope of expertise of this ITHACA Centre includes:

• over 5500 dysmorphic and multiple congenital anomalie (MCA) syndromes (listed in the London Dysmorphology Database), among which over 3000 monogenic diseases, all chromosome abnormalities (most of them only detectable through array technologies), multifactorial, sporadic dysmorphological anomalies and embryofetopathies of environmental origin

• >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)

Service to patients

This HCP is in Bratislava, the capitol of Slovakia. The whole country covers 5 million inhabitants. It provides multidisciplinary care for patients and their family, by offering clinical diagnosis, prenatal and postnatal consulting, neurosurgical, urology, orthopedy, pediatric and genetic counselling, family screening. It offers neurological and neuropsychological evaluation, rehabilitation, management, treatments and long term follow up.

Organization of the Center

History of the Children hospital in Bratislava started in 1857 and without interruption works till today. National Institute of Childrens Diseases ( www.nudch.eu ) is the new name of the HCP and describes the position of this hospital in the country. With 400 pediatric beds provides the full range of pediatric specialties and wide range of multidisciplinary approach. Outpatient’s offices are organized for urgent services 24h 7 days. The planned consultations are on the coordinated level and starts prenatally. Neighboring Adult hospital with Obstetrics is the perfect option. There exists the network and we meet the patient and family before birth.

The pediatric Spina Bifida Center strives for optimal multidisciplinary care of patients with congenital neural tube defects and aims to increase knowledge on disease manifestations, treatment and care. Our ultimate objective is to increase the quality of life of our patients. For this we collaborate closely with patient organizations, local ( www.sbah.sk ) and worldwide ( www.ifglobal.org ).

Hospital is a teaching institution. Professionals and clinical units are part of the Faculty of Medicine, Comenius University Bratislava ( www.fmed.uniba.sk). It provides the education for future physicians as well as postgraduate education.