Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol-anchored protein (GPI-AP) deficiency. Previous studies described seven patients with biallelic variants in the PIGS gene, of whom two presented with fetal akinesia and five with global developmental delay and epileptic developmental encephalopathy. We present the molecular and clinical characteristics of six additional individuals from five families with unreported variants in PIGS. All individuals presented with hypotonia, severe global developmental delay, microcephaly, intractable early infantile epilepsy, and structural brain abnormalities. Additional findings include vision impairment, hearing loss, renal malformation, and hypotonic facial appearances with minor dysmorphic features but without a distinctive facial gestalt. Four individuals died due to neurologic complications. GPI anchoring studies performed on one individual revealed a significant decrease in GPI-APs. We confirm that biallelic variants in PIGS cause vitamin pyridoxine-responsive epilepsy due to inherited GPI deficiency and expand the genotype and phenotype of PIGS-related disorder. Further delineation of the molecular spectrum of PIGS-related disorders would improve management, help develop treatments, and encourage the expansion of diagnostic genetic testing to include this gene as a potential cause of neurodevelopmental disorders and epilepsy.

Socio-cultural Norms and Gender Equality of Ethnic Minorities in Vietnam.

BACKGROUND: Thirty years ago, Vietnam was a poor low-income country; since then, it has accomplished remarkable achievements in socio-economic development, not least in its high rate of poverty reduction. But cultural stereotypes remain a root cause of inequality for women and girls, forming a barrier to accessing opportunities in education, health care, and in receiving equal treatment. METHODOLOGY: This paper used a variety of methods, including a literature review of cultural stereotypes and gender equality and a survey of gender equality for ethnic minorities covering 2894 households by IFGS in 2019. It analyzed the correlation between different variables, including gender, ethnicity, family type, parents' perception about opportunities for ethnic minority girls for schooling, health care, and equality of treatment. In addition, this article uses material from qualitative data collected from 15 in-depth interviews and life stories. RESULTS: Traditional gender stereotypes are a major obstacle to achieving gender equality for women and girls. Customs and cultural practices ground prejudices against women and girls in the perception of numerous ethnic minorities in Vietnam. Being perceived as the breadwinner for their family, ethnic women have to participate in the labor force, in addition to taking care of other family members. Furthermore, they lack opportunities to communicate outside their small community. Therefore, in some ethnic minorities, there is a high rate of girls experiencing child marriage, and early pregnancies are more likely; this significantly affects their development and results in negative consequences for nutrition and maternal and child health care. In addition, girls who have an early marriage to satisfy their parents' desire have to drop out of school and limit their social interactions. Different causes, such as limited awareness, attachment to traditional beliefs, and parents' prejudice (that schooling is prioritized for boys), have locked adolescent girls into a vicious circle of child marriage and school dropout. This is also the reason for the high illiteracy rate of ethnic minority women in Vietnam. CONCLUSIONS: Traditional stereotyped gender perceptions have become major barriers to the development of ethnic minority girls and women in Vietnam. Child marriage and teenage pregnancy stem from the notion that girls do not need to be educated, but should join the workforce as early as possible and take care of their families; the result is a wide range of negative consequences, including keeping girls away from school and social interaction. Ethnic minority women have a high rate of illiteracy and social communication constraints, leading to their poor access to health care services. The spiral of gender inequality toward ethnic minority girls and women in Vietnam is still ongoing as parents' perceptions have not changed. Ethnic minority girls and women continue to be marginalized by the barriers of gender stereotypes and traditional culture.