Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

Mackay, Jessica; McCallum, Zoë; Ambler, Geoffrey; Vora, Komal; Nixon, Gillian M.; Bergman, Philip; Shields, Nora; Milner, Kate; Kapur, Nitin; Crock, Patricia; Caudri, Daan; Curran, J.; Verge, Charles F.; Seton, Chris; Tai, Andrew; Tham, Elaine; Musthaffa, Yassmin; Lafferty, Antony; Blecher, Gregory; Harper, Jessica; Schofield, Cara; Nielsen, Aleisha; Wilson, Andrew; Leonard, Helen; Choong, Catherine S; Downs, Jenny

doi:10.1111/jpc.14546

Cited by 13 publications

(9 citation statements)

References 67 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, hypothalamic dysfunction could result in abnormal temperature regulation, disturbed pain registration, and pituitary hormone deficiencies, including hypothyroidism. There are contradictory data regarding the prevalence of hypothyroidism in PWS [4,5].…”

Section: Introductionmentioning

confidence: 99%

Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review

Pellikaan

Snijders

Rosenberg

et al. 2021

JCM

View full text Add to dashboard Cite

Prader–Willi syndrome (PWS) is a complex genetic syndrome combining hypotonia, hyperphagia, a PWS-specific neurocognitive phenotype, and pituitary hormone deficiencies, including hypothyroidism. The low muscle mass associated with PWS causes a low energy expenditure due to a low basal metabolic rate. Combined with increased energy intake due to hyperphagia, this results in a high risk of obesity and associated cardiovascular disease. To reduce the high mortality in PWS (3% yearly), exercise is extremely important. As hypothyroidism can impair exercise tolerance, early detection is crucial. We performed a literature search for articles on hypothyroidism in PWS, measured thyroid hormone (TH) levels in 122 adults with PWS, and performed a medical file search for medication use. Hypothyroidism (low free thyroxin) was present in 17%, and often central in origin (80%). Triiodothyronine levels were lower in patients who used psychotropic drugs, while other TH levels were similar. One in six patients in our cohort of adults with PWS had hypothyroidism, which is more than in non-PWS adults (3%). We recommend yearly screening of free thyroxin and thyroid-stimulating hormone levels to avoid the negative effects of untreated hypothyroidism on basal metabolic rate, body mass index, and cardiovascular risk. Additionally, we recommend measuring TH concentrations 3–4 months after the start of growth hormone treatment.

show abstract

Section: Introductionmentioning

confidence: 99%

Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review

Pellikaan

Snijders

Rosenberg

et al. 2021

JCM

View full text Add to dashboard Cite

show abstract

“…The available literature on the subject describes the leading behavioural characteristics of PWS, which to the greatest extent generate the emotional burden of caregivers. Mackay et al [ 2 ] mention “ food-seeking activities , restrictive or repetitive behaviours and difficulties with social communication and reciprocity ”, considering them as the main elements of the PWS behavioural phenotype that generate significant consequences for the maternal and family well-being. Sarimski [ 3 ] indicates the insatiable appetite as the primary phenotypic feature of PWS children.…”

Section: Discussionmentioning

confidence: 99%

“…70%-75% cases of PWS are caused by paternal chromosome 15q11-q13 deletion (genetic type I), 20–30% of cases by maternal uniparental disomy of chromosome 15 (mUPD; genetic type II), while in the remaining 2–5% of cases, the patients are characterized by diverse genetic disorders occurring in the 15q11-q13 region (imprinting defects, ID) [ 11 – 14 ]. The direct genetic cause of PWS is, however, the lack of active paternal genes located on chromosome 15 in the 15q11-q13 region [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome

2022

View full text Add to dashboard Cite

Background The behavioural phenotype of Prader-Willi Syndrome (PWS) implies a specific emotional and social-interactive burden for the caregivers of the individuals with PWS. The aim of the study was to perform an in-depth exploratory analysis of experiences of the familial caregivers of individuals with PWS. Method The study was carried out using a sociological methodology of the grounded theory (qualitative research). A purposively selected sample of 20 familial caregivers of children/adults with PWS was invited to take part in individual, semi-structured in-depth interviews which included questions pertaining to coping with problems arising from the condition, including its impact on social interactions, as well as to the meanings of PWS. Results The core category emerging from our analysis emphasized “experiencing PWS as a crisis”. The phases in the process of experiencing PWS were specified, each of which is characterised by specific cognitive, emotional and social problems, implying relevant requirements in the care of individuals with PWS. I. Crisis in response to the diagnosis; II. Crisis in response to lack of control over the hunger of individuals with PWS; III. Crisis in response to the social milieu’s failure to understand the nature of the condition; IV. Crisis in response to attempts to plan the future of individuals with PWS. The specificity of the PWS caregiver’s experience is primarily determined by the need to reconstruct the entire family’s lifestyle. The experiences of caregivers of PWS persons, at the time when they were available for study, had the characteristics of crisis. Moreover the psychosocial consequences of PWS were not subject to normalization and attempts to attribute any meaningful existential sense to the PWS were ineffective in the time period under scrutiny. Conclusions Identifying phases of the PWS experience process from the perspective of the caregivers of individuals with PWS may be used to profile interventions supporting PWS individuals’ families in a manner corresponding to the flow of the illness experience.

show abstract

“…It is our view that the even more important issues that require attention are the food-seeking behavior and the other behavioral aspects of this syndrome, such as the repetitive behaviors as well as the difficulties with social interactions and the long-term risk for psychiatric disease. These can markedly affect the quality of life of the caregivers (12,13,14,15).…”

Section: Growth Hormone Treatments and Cognitive Functioning In Childmentioning

confidence: 99%

Growth hormone treatments and cognitive functioning in children with Prader–Willi syndrome

Deal

Rogol

2020

European Journal of Endocrinology

View full text Add to dashboard Cite

Requirements for improving health and well‐being of children with Prader‐Willi syndrome and their families

Cited by 13 publications

References 67 publications

Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review

Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review

Experiencing illness as a crisis by the caregivers of individuals with Prader-Willi Syndrome

Growth hormone treatments and cognitive functioning in children with Prader–Willi syndrome

Contact Info

Product

Resources

About