8.00-9.00 Poster session II
Chairs: W van Emde Boas, Katrin Õunap
B Burnyte: Coffin-Siris syndrome-12: a case report
B Burnytė: Kleefstra syndrome type 2: a case report
D Burkojus: Case presentation: Early infantile Krabbe disease
D Runkauskaitė: Clinical signs of the neuronal ceroid lipofuscinosis type 2
I Kopyta: Selected risk factors in dependence to the type of cerebral palsy
R Traberg: Case report of KBG syndrome, rare genetic disorder associated with intellectual disability
K Merkevičius: Migraine like headaches in Osler-Weber-Rendu syndrome
RR Apse: Early childhood sleep problems in Latvia – parent perspective and recommendations by medical community
Autoimmune and rare diseases
Chairs: Katrin Gross-Paju, Milda Dambrauskienė
9.00-9.30 – D Dubey: Autoimmune encephalitis
9.30-10.00 – K Gross-Paju: Update of SM in children
10.00-10.10 – T Meren: Who wouldn’t like to be younger? A case of MOG antibody encephalitis
10.10-10.20 – S Jackevičiūtė: A retrospective diagnosis of anti-GAD65 autoimmune encephalitis
10.20-10.30 – D Burkojus: CASPR2 antibody-associated disease
10.30-11.00 – K Õunap: Rare disease discovery and care in Estonia
11.00-11.30 Coffee
Genetics, neuromuscular diseases
Chairs: Nerija Vaičienė-Magistris, Eve Õiglane-Šlik
11.30-11.45 – L Ambrozaitytė: Wide spectrum of nuclear DNA diagnosis in patients with suspected mitochondrial disease
11.45-12.00 – G Senkevičiūtė: Diagnostic outcomes of next-generation sequencing in children with neuromuscular disorders
12.00-12.15 – S Setlere: Charcot-Marie-Tooth disease in paediatric patients
12.15-12.30 – B Lace: Non-dystrophic congenital myotonia – the most frequent neuromuscular disorder in Latvia
12.30-12.40 – L Roht: Myotonic dystrophy type 1- different clinical manifestations in one family
12.40-12.50 – T Meren: The descriptive epidemiology of glucose transporter type 1 deficiency syndrome in Estonia
12.50-13.00 – R Traberg: Case report of Coats plus syndrome associated with pathogenic variants in CTC1 gene
13.00-14.00 – Lunch
Neuromuscular diseases
Chairs: Carsten Bönnemann, Sander Pajusalu
14.00-14.30 – C Bönnemann: Emerging opportunities for gene and transcript directed precision therapeutics for rare neuromuscular disease of childhood
14.30-15.00 – Werner Stenzel: Acquired muscle diseases in childhood- how can myopathology contribute?
15.00-15.30 – P Fuchsová: A clinical reality of SMA patient treatment today, situation in Czech Republic (Novartis)
15.30-15.45 – D Seile: Latvian experience: Spinal muscular atrophy genetic screening
15.45-16.00 – M Dambrauskienė: Treatment of spinal muscular atrophy: a 5-year experience from a single center for neuromuscular diseases
16.00-16.15 – TL Cupane: The results of spinal muscular atrophy genetic therapy, Latvia
16.15-16.30 – I Talvik: Treatment of spinal muscular atrophy in Estonia
16.30-17.00 – Coffee
17.00-17.30 – Poster session III
Chairs: W van Emde Boas, Sameer Zuberi
J Strautmanis: Age at loss of ambulation in patients with DMD from the STRIDE registry and the CINRG natural history study: a matched cohort analysis
J Andreikėnas: Critical illness-associated weakness after prolonged treatment in intensive care unit
J Karandienė: Awakening of the sleeping beauty: first case of childhood narcolepsy treatment with pitolisant in Lirthuania
R Stankevičiūtė: A case of possible severe exacerbations of myasthenia gravis and myasthenic crisis after COVID-19 infection
K Kozlova: Lack of knowledge about pediatric sleep related problems in Latvian physicians
18.30-22.00 Gala dinner