Prader-Willi syndrome: care of adults in general practice

Background: Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity by decreasing fat mass and increasing muscle mass and physical ability. Adults, however, are treated predominantly for the many disabling secondary complications of the morbid obesity characteristic of this syndrome, and therefore require frequent care from their general practitioner. Objective: Despite improvements in the genetic diagnosis of infants with Prader-Willi syndrome, diagnosis in adults appears to be lacking or is based on uncertain clinical characteristics. This article provides information and advice that may assist in the diagnosis and management of Prader-Willi syndrome in adults. Discussion: The GP can play an important role in identifying Prader-Willi syndrome among adult patients who may have remained undiagnosed. Specific care and treatments can then be provided in the general practice setting

Coordination of the multidisciplinary treatment efforts

Multidisciplinary care is defined as the care provided by a team of professionals from different disciplines with the aim to deliver care that addresses the individual's health as well as emotional and psychosocial needs. Although multidisciplinary care of the Prader-Willi Syndrome (PWS) is now considered as beneficial, setting up such a clinic is complex and requires commitment from all the participating professionals. In the first part of this chapter we provide an overview of the current recommendations for the diagnosis and multidisciplinary management of Prader-Willi Syndrome throughout the life span.The second part of this chapter describes the multidisciplinary efforts in 24 centres from 16 countries. We provide a short overview of the efforts made in these different countries including the practical organisations, the availability of growth hormone (GH), the benefits, limitations and future opportunities of these clinics, and their research activities

Intellectual disability, sexuality and sexual abuse prevention: A study of family members and support workers

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Women with intellectual disabilities A study of sexuality, sexual abuse and protection skills

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Surgical repair of spontaneous perineal tears that occur during childbirth versus no intervention (Review)

Background: Perineal tears commonly occur during childbirth. They are sutured most of the time. Surgical repair can be associated with adverse outcomes, such as pain, discomfort and interference with normal activities during puerperium and possibly breastfeeding. Surgical repair also has an impact on clinical workload and human and financial resources. Objectives: To assess the evidence for surgical versus non-surgical management of first- and second-degree perineal tears sustained during childbirth. Search methods: We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (1 May 2011), CENTRAL (The Cochrane Library 2011, Issue 2 of 4) and MEDLINE (Jan 1966 to 2 May 2011). We also searched the reference lists of reviews, guidelines and other publications and contacted authors of identified eligible trials. Selection criteria: Randomised controlled trials (RCTs) investigating the effect on clinical outcomes of suturing versus non-suturing techniques to repair first- and second-degree perineal tears sustained during childbirth. Data collection and analysis: Two review authors independently assessed trials for inclusion and assessed trial quality. Three review authors independently extracted data. Main results: We included two RCTs (involving 154 women) with a low risk of bias. It was not possible to pool the available studies. The two studies do not consistently report outcomes defined in the review. However, no significant differences were observed between the two groups (surgical versus non-surgical repair) in incidence of pain and wound complications, self-evaluated measures of pain at hospital discharge and postpartum and re-initiation of sexual activity. Differences in the use of analgesia varied between the studies, being high in the sutured group in one study. The other trial showed differences in wound closure and poor wound approximation in the non-suturing group, but noted incidentally also that more women were breastfeeding in this group. Authors' conclusions: There is limited evidence available from RCTs to guide the choice between surgical or non-surgical repair of first- or second-degree perineal tears sustained during childbirth. Two studies find no difference between the two types of management with regard to clinical outcomes up to eight weeks postpartum. Therefore, at present there is insufficient evidence to suggest that one method is superior to the other with regard to healing and recovery in the early or late postnatal periods. Until further evidence becomes available, clinicians' decisions whether to suture or not can be based on their clinical judgement and the women's preference after informing them about the lack of long-term outcomes and the possible chance of a slower wound healing process, but possible better overall feeling of well being if left un-sutured

Response to growth hormone treatment in Prader - Willi syndrome: auxological criteria versus genetic diagnosis

Aim: The Australian Prader-Willi Syndrome (PWS) database was established to monitor the efficacy and safety of growth hormone (GH) treatment in PWS. This study aims to compare response to GH based on eligibility criteria. Methods: Comparative study: 72 children received GH on the basis of short stature or evidence of GH deficiency (pre-2009: PWS-SS) and 94 on a genetic diagnosis (post-2009: PWS-Dx). We report on mandatory patient data for GH prescription: median and standard deviation score (SDS) for height and body mass index (BMI), waist/height ratio, bone age/chronological age ratio and adverse events. Comparisons were made using non-parametric tests. Results: At baseline, the PWS-SS cohort was shorter (height SDS: –2.6 vs. –1.1, P < 0.001), had a lower BMI (0.6 vs. 1.5 SDS, P < 0.05) and greater bone age delay (bone age/chronological age: 0.7 vs. 0.9, P < 0.05) than the PWS-Dx cohort. PWS-SS parents were shorter (mid-parental height SDS: −0.13 vs. 0.28, P < 0.005). Mean change in height over 2 years was 0.9 SDS and in BMI using PWS reference standards –0.3 SDSPWS (n = 106) (year 2, height SDS: PWS-SS = –1.7, PWS-Dx = 0.1; BMI SDSPWS: PWS-SS = –1.0, PWS-Dx = –0.6). The waist/height ratio reduced (PWS-Dx: 0.60 vs. 0.56, P < 0.05) and bone age delay was unchanged over this period. No serious adverse events were reported. Conclusions: The PWS-SS cohort represents a subgroup of the wider PWS-Dx population; however both cohorts improved height SDS with normalisation of height in the PWS-Dx cohort and lowering of BMI relative to PWS standards supporting the efficacy of treatment under the current Australian GH programm