RESUMEN
NGLY1 deficiency is a rare congenital disorder of deglycosylation with a unique constellation of symptoms that include hypo- or alacrima, movement disorder, epilepsy, and severe intellectual disability (OMIM #615273). Here we report a patient with NGLY1 deficiency whose clinical presentation lacks many of the features associated with the disease and has a much milder intellectual disability than had been previously reported, expanding the phenotypic spectrum.
Asunto(s)
Trastornos Congénitos de Glicosilación , Discapacidad Intelectual , Trastornos Congénitos de Glicosilación/genética , Humanos , Discapacidad Intelectual/genética , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/deficiencia , Péptido-N4-(N-acetil-beta-glucosaminil) Asparagina Amidasa/genética , FenotipoRESUMEN
A survey evaluated a Breastfeeding Drop-In Center's (BDC) provision of "hands-on" professional breastfeeding help and support in a community setting. Results from telephone interviews using a pretested 29-item open- and closed-ended questionnaire with a sample of 57 BDC clients showed: (1) 81% were breastfeeding at 4 months, (2) 51% were exclusively or primarily breastfeeding at 4 months, (3) 50% breastfed to or beyond their intended duration, (4) return to work/school was the main factor in weaning, (5) wanting reassurance, crying/fussy baby and poor latch were the most common reasons for attending the BDC, and (6) 95% said their problems were completely or partially resolved after visiting the BDC, with crying/fussy baby and difficulties latching as problems sometimes not resolved. These results suggest the BDC is an effective community breastfeeding support strategy.