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Trisomy 21 or Down syndrome is the most common chromosomal abnormality reported worldwide. The prevalence of infantile spasms was 3% in our population with Down syndrome, which is slightly higher than the median lifetime prevalence of 2.1% (range 0.4-12.8) of epileptic spasms recently reported.5 Studies focusing on treatments and outcomes of infantile spasms in cohorts with Down syndrome are lacking. Abbreviations ACTH Adrenocorticotropic hormone ICISS International Collaborative Infantile Spasms Study What this paper adds The prevalence of infantile spasms in Down syndrome was 3%. Vigabatrin was responsible for most ( I n i =10), followed by combination prednisolone and vigabatrin ( I n i =6), prednisolone ( I n i =4), sodium valproate ( I n i =2), and other ( I n i =3). [Extracted from the article]

This study examined the relationship between parent–child communication and psychosocial well-being of 47 children living with epilepsy and 72 parents of children living with epilepsy. Open communication was associated with positive illness attitude, positive self-perception and greater health-related quality of life for children living with epilepsy; positive response to illness for parents; and more perceived social support and less need for epilepsy-related support for children living with epilepsy and parents. By contrast, closed communication was associated with poorer psychosocial well-being in children living with epilepsy and parents. Healthcare professionals should provide guidance for families living with childhood epilepsy on the importance of open communication in promoting greater psychosocial well-being. [ABSTRACT FROM AUTHOR]

Since 1972, 18 patients (10 females/8 males) have been detected by newborn bloodspot screening (NBS) with neonatal‐onset maple syrup urine disease (MSUD) in Ireland. Patients were stratified into three clusters according to clinical outcome at the time of data collection, including developmental, clinical, and IQ data. A fourth cluster comprised of two early childhood deaths; a third patient died as an adult. We present neuroimaging and electroencephalography together with clinical and biochemical data. Incidence of MSUD (1972‐2018) was 1 in 147 975. Overall good clinical outcomes were achieved with 15/18 patients alive and with essentially normal functioning (with only the lowest performing cluster lying beyond a single SD on their full scale intelligence quotient). Molecular genetic analysis revealed genotypes hitherto not reported, including a possible digenic inheritance state for the BCKDHA and DBT genes in one family. Treatment has been based on early implementation of emergency treatment, diet, close monitoring, and even dialysis in the setting of acute metabolic decompensation. A plasma leucine ≥400 μmol/L (outside therapeutic range) was more frequently observed in infancy or during adolescence, possibly due to infections, hormonal changes, or noncompliance. Children require careful management during metabolic decompensations in early childhood, and this represented a key risk period in our cohort. A high level of metabolic control can be achieved through diet with early implementation of a "sick day" regime and, in some cases, dialysis as a rescue therapy. The Irish cohort, despite largely classical phenotypes, achieved good outcomes in the NBS era, underlining the importance of early diagnosis and skilled multidisciplinary team management. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Mutations in the γ2 subunit gene of the GABAA receptor, GABRG2, have been shown to cause generalised epilepsy syndromes in rare familial cases. Here we set out to examine whether common variation in GABRG2 predisposes to the development of common, complex forms of epilepsy in two large independent cohorts. Methods: We have applied a tagging single nucleotide polymorphism (tSNP) technique allowing us to satisfactorily represent common variation in the gene. However, to ensure maximal representation of functional variation and in particular in cases of low minor allele frequency (MAF), we have identified and forced known functional variation as tagging SNPs. We examined the association between tagging SNPs and subtypes of epilepsy in two independent cohorts; the first consisted of 677 cases and 384 healthy controls, the second of 684 cases and 277 healthy controls. Results: We failed to detect any variation that conferred an increased risk of disease development in both cohorts. Discussion: Our results suggest that common variants of strong effect in GABRG2 do not appear to play a role in the development of common, complex forms of epilepsy. This report illustrates a number of important features of study design in genetic association studies, including the simultaneous use of map and sequence-based techniques and the necessity of replication before robust conclusions can be drawn from results. [Copyright &y& Elsevier]