Objective: To characterize the relevance of phenotyping and diagnostic timing to achieve a molecular-genetic diagnosis in developmental encephalopathies with epilepsy and movement disorders (DEEMD). Methods: A retrospective analysis of patients (period 2010-2020) with genetically confirmed DEEMD was realized. According to their movement disorders phenotype, patients were divided in Group A (hyperkinetic movement disorders) and Group B (hypokinetic movement disorders). Clinical info, compatibility with published phenotypes, timing for the etiological diagnosis and the temporal distribution of the diagnostic delay were collected. Statistical analysis (SPSS26.0) included: descriptive parameters, Chi2-test, ANOVA and Bonferrori correction for groups comparisons (p= 0.05). Results: 61 patients (32 females and 29 males), with a mean age of 15,77±9.31 years and 37 different genetic diseases, were recruited. The mean age at the molecular genetics diagnosis was 8.69±8.83 years with a mean diagnostic delay of 6.29±8.12years. The diagnostic yield of molecular genetic investigations was higher in the period 2015-2020. Group A included 47 patients (27 females and 20 males) and Group B had 14 patients (5 females and 9 males). The mean diagnostic delay was longer in Group B (13,47±13,60 versus 4,15 ±3,38 years). In Group A an earlier onset of seizures was observed (2,77±3,29 versus 4,05±3,9 years) while the onset of movement disorders was noticed earlier in Group B (2,5±3,59 versus 3,21±3,61 years). The initial epileptic manifestations mainly included generalized motor onset seizures (Group A) and focal seizures with impaired awareness and motor onset (Group B). The compatibility with published phenotypes was higher in Group A Conclusions: The reported cohort analysis suggested a) variable combinations of epilepsy and movement disorders phenotypes in genetically determined DEEMD b) a higher diagnostic difficulty in patients with hypokinetic movement disorders.
PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS / Mastrangelo, Mario; Galosi, Serena; Cesario, Serena; Esposito, RITA MARIA; Campea, Lucilla; Leuzzi, Vincenzo. - (2022). (Intervento presentato al convegno 14th European Pediatric Neurology Society Congress tenutosi a Glasgow).
PHENOTYIPING AND DIAGNOSTIC TIMING IN NGS-DIAGNOSED GENETIC DEVELOPMENTAL ENCEPHALOPATHIES WITH EPILEPSY AND MOVEMENT DISORDERS
Mario Mastrangelo;Serena Galosi;Serena Cesario;Rita Maria Esposito;Lucilla Campea;Vincenzo Leuzzi
2022
Abstract
Objective: To characterize the relevance of phenotyping and diagnostic timing to achieve a molecular-genetic diagnosis in developmental encephalopathies with epilepsy and movement disorders (DEEMD). Methods: A retrospective analysis of patients (period 2010-2020) with genetically confirmed DEEMD was realized. According to their movement disorders phenotype, patients were divided in Group A (hyperkinetic movement disorders) and Group B (hypokinetic movement disorders). Clinical info, compatibility with published phenotypes, timing for the etiological diagnosis and the temporal distribution of the diagnostic delay were collected. Statistical analysis (SPSS26.0) included: descriptive parameters, Chi2-test, ANOVA and Bonferrori correction for groups comparisons (p= 0.05). Results: 61 patients (32 females and 29 males), with a mean age of 15,77±9.31 years and 37 different genetic diseases, were recruited. The mean age at the molecular genetics diagnosis was 8.69±8.83 years with a mean diagnostic delay of 6.29±8.12years. The diagnostic yield of molecular genetic investigations was higher in the period 2015-2020. Group A included 47 patients (27 females and 20 males) and Group B had 14 patients (5 females and 9 males). The mean diagnostic delay was longer in Group B (13,47±13,60 versus 4,15 ±3,38 years). In Group A an earlier onset of seizures was observed (2,77±3,29 versus 4,05±3,9 years) while the onset of movement disorders was noticed earlier in Group B (2,5±3,59 versus 3,21±3,61 years). The initial epileptic manifestations mainly included generalized motor onset seizures (Group A) and focal seizures with impaired awareness and motor onset (Group B). The compatibility with published phenotypes was higher in Group A Conclusions: The reported cohort analysis suggested a) variable combinations of epilepsy and movement disorders phenotypes in genetically determined DEEMD b) a higher diagnostic difficulty in patients with hypokinetic movement disorders.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
