Search
Our findings provide additional insight into the early clinical profile of Rett syndrome.
The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study...
This study aimed to explore the factors that predict functioning in families with a child with Down syndrome using a mixed methods design.
Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...
The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome.
The aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.
Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.
The purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.