Indications for genetic referral: a guide for healthcare providers

Geneticists and genetic counselors are often asked what may be appropriate reasons for referral to a genetics service. The Professional Practice and Guidelines Committee of the American College of Medical Genetics has generated lists of the more common reasons for referral and provide them for use by genetics professionals and other healthcare providers for guidance. The lists are divided into pediatric, prenatal, and adult indications

Kwapa: Gente del río. Estrategias transmedia de impacto social

El PAP Alter Código, período Primavera 2023, trabajó con los dos proyectos que se han venido trabajando en semestres anteriores: el videojuego A Orillas del río y el documental Déjennos pescar. Ambos proyectos parten de la metodología interdisciplinaria y colaborativa con miembros de la comunidad Cucapá para crear representaciones audiovisuales no estigmatizantes, que detonen el sentido de comunidad y refuercen su acervo cultural. El videojuego A Orillas del río es del género point and click, de vista isométrica, el cual está inspirado en el cuento oral tradicional El zorro y el coyote, que busca ser una herramienta lúdica de aprendizaje para reforzar el aprendizaje de la lengua Cucapá en los niños. Los resultados obtenidos fueron el demo del nivel uno (escenas uno y dos); colorimetría, arcos de personajes principales; programación de minijuegos. Dentro del documental ‘Déjennos pescar’ los resultados fueron un montaje, una clasificación del material grabado con transcripciones de audio, mientras que en la parte de estrategia de impacto se creó un manual de uso de redes sociales con colorimetría, tipografía, estilo de voz, tipo de contenido según la red social, para los futuros integrantes del equipo.ITESO, A.C

Verification of the fetal valproate syndrome phenotype

We have evaluated 19 children who were exposed to valproic acid (VPA) in utero to look for manifestations of a fetal valproate syndrome (FVS), as proposed by Di Liberti et al. [1984]. We found no consistent alterations of pre- or postnatal growth with exposure to VPA monotherapy. Postnatal growth deficiency and microcephaly were present however, in two thirds of children exposed to VPA in combination with other anticonvulsants. Developmental delay or neurologic abnormality was found in 71% of those exposed to VPA monotherapy, and in 90% of those exposed to VPA and other anticonvulsants. Craniofacial anomalies, which can be seen with other anticonvulsant exposures, including midface hypoplasia, short nose with a broad and/or flat bridge, epicanthal folds, minor abnormalities of the ear, philtrum or lip, and micrognathia were also found in infants whose mothers used VPA. Prominent metopic ridge and outer orbital ridge deficiency or bifrontal narrowing and certain major anomalies such as tracheomalacia, talipes equinovarus (with intact spine) and lumbosacral meningomyelocele seem to be peculiar to infants with VPA exposure. Other defects such as urogenital anomalies, inguinal or umbilical hernias, and minor digital anomalies that are common to other prenatal anticonvulsant exposures are also occasionally found in those exposed to VPA. Heart defects have been found in infants exposed to nearly every class of anticonvulsant although the types of defects associated with maternal VPA use may be clarified when classified by pathogenetic mechanism. Our findings overall are in agreement with the report of Di Liberti et al. [1984]

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource-limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2-3 clinics per year on various islands in the Caribbean. We also organized a week-long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow-up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large

Toriello-Carey Syndrome: Delineation and Review

Toriello and Carey [1988: Am J Med Genet 31:17-23] first described a syndrome with component manifestations of corpus callosum agenesis, unusual facial appearance, Robin sequence, and other anomalies. This was termed the Toriello-Carey syndrome by Lacombe et al. [1992: Am J Med Genet 42:374-376]. Since then, 11 reports describing 16 additional children have been published; in addition, we have had the opportunity to review over 30 unpublished cases. However, for various reasons, only 25 of the unpublished patients were included in this review. Based on this total, we can begin to better delineate this syndrome, as well as provide some information on natural history