Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

Abstract

We surveyed 57 caregivers of children with Cornelia de Lange syndrome (CdLS) using a self-report questionnaire designed to elicit their experiences with receiving information regarding health complications associated with this multisystem disorder. Their most frequent sources of information at the time of diagnosis were a health care provider (86%) and the CdLS Foundation (72%). Although most caregivers (82%) indicated a desire to receive information about all possible CdLS related health complications, on average they recalled receiving information on only 64% of their child's current or future health complications. For two of the top three complications (as ranked by caregivers), information was available to fewer than half of the caregivers at diagnosis. Only 40% of caregivers were satisfied with the amount of information received at diagnosis, while only 45% felt that the information they received was useful. Caregivers indicated a preference for receiving information in written format (59%) or verbally (39%). Our results indicate that caregivers of children with CdLS report a high need for information at diagnosis, regarding their child's actual or potential health complications. Dissatisfaction may result both from a deficiency in information provided, as well as a mismatch between issues mentioned and those that caregivers deem most important. Caregivers may benefit maximally from receiving information in person at the time of diagnosis as well as having an additional written source of information. These findings highlight the importance of complementary sources of information for caregivers and are likely to be relevant for other multisystem disorders.

Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

“…Ideally, a genetics team is involved with the initial diagnosis. Typically, families wish to hear as much as possible about the manifestations of the syndrome even when a specific manifestation is absent in their child [Hinkson et al, 2006]. Family services are available through the CdLS USA Foundation, Inc. (phone 1‐800‐223‐8355 or web site http://www.cdlsusa.org/) or the worldwide web site http://www.cdlsworld.org/ to locate a different country or region support group within the World CdLS Federation.…”

Differences in the Information Needs of Parents With a Child With a Genetic Syndrome: A Cross‐Syndrome Comparison

“…Further to this, there appears to be a discrepancy between the information parents want in regard to their child's syndrome and the information they are provided with. Hinkson and colleagues () explored information preferences of parents with a child with CdLS. Reflux, behavior and feeding problems were ranked as the highest three concerns of parents, however information on reflux and behavior was given to parents at diagnosis in less than half of cases.…”

Cornelia de Lange Syndrome: A Case Report of a Brazilian Boy

“…Family support is also essential, especially at the time of diagnosis (Kline et al, 2007). It is important to provide the family with information on the syndrome, which could help parents/caregivers to cope emotionally with the diagnosis and cooperate with regard to the child's treatment (Hinkson et al, 2006).…”