Analysis of parent perception of newborn screening for lysosomal disorders

Abstract

Lysosomal storage disorders (LSD) are a family of rare metabolic disorders that include Pompe disease and Mucopolysaccharidosis Type 1 (MPS1). Pompe disease is caused by deficiencies in the lysosomal enzyme alpha-glucosidase (GAA). This diagnosis is generally divided into infantile and late onset, but can exist along a spectrum. The main feature of Pompe disease is progressive muscle weakness, and in the infantile onset form, cardiomyopathy is present as well. MPS1 results from a deficiency in the lysosomal enzyme alpha-L-iduronidase (IDUA). Features include progressive neurological disease, skeletal abnormalities, cardiac disease, corneal clouding, hearing loss and hepatomegaly. The diagnosis has been stratified into MPS1 or attenuated MPS1, and severity or development of symptoms is dependent on the type. Both Pompe disease and MPS1 were recently added to the newborn screening panel. With their addition, a number of challenges have occurred including negative psychosocial impact on parents of infants who have an abnormal newborn screening result. The purpose of this study was to examine the experience and perceptions of parents/caregivers of an infant who had a positive newborn screening result for Pompe disease or MPS1. A survey was distributed via email and mailer, to parents and caregivers followed by the UPMC Children’s Hospital of Pittsburgh and the Children’s Hospital of Philadelphia. The survey consisted of questions specific to newborn screening of LSDs. Parent responses, were consistent with the literature, indicating that this period was categorized by stress and uncertainty. Of the five respondents, 100% described initial disclosure of the newborn screening results as difficult. Responses suggest that negative emotions were fueled by lack of information provided about the results, and provider’s lack of knowledge. Similar to published literature, this study indicated the majority of infants are not diagnosed with the most severe forms of the disorders. Results of this study may have implications for how genetic counselors care for these families and how they communicate with other providers. Likewise, it demonstrates public health relevance given the large scale in which newborn screening is utilized. This information can be used by providers in their own practice and may even influence standard of care.