Hypogonadism in Patients with Prader Willi Syndrome: A Narrative Review

Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder related to the lack of a functional paternal copy of chromosome 15q11-q13. Several clinical manifestations are reported, such as short stature, cognitive and behavioral disability, temperature instability, hypotonia, hypersomnia, hyperphagia, and multiple endocrine abnormalities, including growth hormone deficiency and hypogonadism. The hypogonadism in PWS is due to central and peripheral mechanisms involving the hypothalamus-pituitary-gonadal axis. The early diagnosis and management of hypogonadism in PWS are both important for physicians in order to reach a better quality of life for these patients. The aim of this study is to summarize and investigate causes and possible therapies for hypogonadism in PWS. Additional studies are further needed to clarify the role of different genes related to hypogonadism and to establish a common and evidence-based therapy.

The Relationship Between Children’s Exposure to Intimate Partner Violence and an Emotional–Behavioral Disability: A Scoping Review

Children’s exposure to intimate partner violence (IPV) is an adverse childhood experience that often results in academic, behavior, and mental health difficulties. This study reviewed the empirical studies examining the relationship between children’s exposure to IPV and an emotional–behavioral disability (EBD). Studies were included in the review if they examined the relationship between exposure to IPV and EBD among children under 18. This research identified three empirical studies that analyzed the relationship between exposure to IPV and EBD. The review demonstrated that few studies had been conducted that explored the relationship between children’s exposure to IPV and EBD and that most of the extant studies are dated. Findings from this review showed that children exposed to IPV were more likely to have EBD compared to other disabilities such as a learning disability, hearing disability, speech and language disability, and an intellectual disability. Higher frequency of violence exposure was associated with EBD. Practice implications include assessing children’s functioning at school and discussing with families or caregivers the option of requesting an evaluation for EBD for children with severe emotional or behavioral difficulties. Special education evaluators assessing children for EBD should consider screening for children’s exposure to IPV and providing resources for IPV. Future research should conceptualize the full range of IPV experiences and collect exposure data from children directly using a validated measure.

Surgical Management of Keratoconus in a Young Adult with Cognitive and Behavioral Disability

Case Presentation: A 25-year-old man with cognitive impairment (CI) and behavioral issues presented for corneal collagen crosslinking (CXL) surgical management of progressive keratoconus. Results: The conventional CXL technique was modified to avoid complications due to potential postoperative behavioral issues. Conclusions: Significant post-operative pain and aggressive behaviour can occur following epi-on CXL. Aggressive behaviour can result in significant complications in relatively low-risk eye surgery. Preoperatively, it is appropriate to devise a multifaceted surgical, medical and behavioural treatment plan including psychotropic if needed in patients with history of cognitive impairment and aggressive behaviour.

What do family caregivers know about palliative care? Results from a national survey

ObjectiveDespite their key role in caring for individuals with serious, chronic illness, there have been no national studies examining family caregiver awareness and perceptions of palliative care. Hence, our objectives were to ascertain level of knowledge of palliative care among U.S. family caregivers and describe demographic variation in awareness and perceptions of palliative care.MethodUsing the 2018 National Cancer Institute Health Information National Trends Survey, we identified unpaid family caregivers caring or making healthcare decisions for someone with a medical, behavioral, disability, or other condition. Respondents were asked about their awareness of the term “palliative care” and, if aware, how much they agreed with statements representing common (mis)perceptions about palliative care (e.g., “Palliative care is the same as hospice”).ResultMore than one-half of caregivers (55%) had “never heard” of palliative care; 19.2% knew what palliative care was and “could explain it to someone else.” In adjusted models, racial minorities (vs. whites) and those without a college degree were less likely to have heard of palliative care. Among those aware of palliative care, ~40% “strongly” or “somewhat” agreed that “Palliative care is the same as hospice”; another 10.5% “didn't know.” Similarly, 40% reported that “When I think of palliative care, I automatically think of death.”Significance of resultsOne-half of family caregivers of adults with serious chronic illness have never heard of palliative care. Even among those who had heard of palliative care, the majority do not distinguish it from hospice care and death. Given the role family caregivers may play in decisions to access palliative care, public messaging efforts are needed to clarify palliative care services in a way that is patient- and family-centered.