Overweight in classical phenylketonuria children: A retrospective cohort study

Walkowiak, Dariusz; Kałużny, Łukasz; Bukowska-Posadzy, Anna; Ołtarzewski, Mariusz; Staszewski, Rafał; Moczko, Jerzy; Musielak, Michał; Walkowiak, Jarosław

doi:10.1016/j.advms.2019.08.001

Cited by 13 publications

(10 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Assuming that this was the reality, that is, due to objective or subjective causes, e.g., pandemic-related stress and not exclusively the patients’ feelings, it could have impacted their diet and deteriorated problems related to vitamin and mineral intake already observed in the pre-pandemic period [ 13 , 14 , 15 , 16 , 17 ]. Moreover, these issues together with general changes in food consumption observed during the pandemic could have influenced energy and metabolic balance, increasing overweight and obesity problems observed in patients with PKU [ 18 , 19 ]. Unfortunately, it cannot be concluded that patients were unaffected by experiencing a shortage of the products necessary to prepare the diet, even if this was due to the greater amount of time spent at home; many believed that maintaining the diet was not a problem.…”

Section: Discussionmentioning

confidence: 99%

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

et al. 2022

Self Cite

View full text Add to dashboard Cite

The first pandemic lockdown dramatically impacted many aspects of everyday life, including healthcare systems. The purpose of this study was to identify problems of patients with phenylketonuria (PKU) and their parents/caregivers during that time. We aimed to analyse potential differences in the self-reported compliance and characteristics of contacts with a doctor/dietitian before and during the pandemic lockdown and the perception of access to special food and opinions on remote contacts between a particular group of respondents. All participants (n = 614) were asked to complete an online questionnaire that consisted of 31 questions on pandemic-related events and circumstances which may have directly or indirectly impacted health and treatment. The people who completed the survey were divided into three groups: parents of PKU children (n = 403), parents of PKU adults (n = 58) and PKU patients older than 16 years (n = 153). The differences among the three analysed groups were found in the number of contacts, the way of contacting a doctor/dietitian during the pandemic and satisfaction with remote contact. Caregivers of children with PKU reported better therapy compliance, more frequent contacts with specialists and more satisfaction with remote visits than adult patients. We also observed a relationship between satisfaction from remote contact and self-reported frequency of contacts with a doctor/dietitian, as well as a relationship between satisfaction from remote contact and recommended blood Phe levels reported by both patients and caregivers. Travel time exceeding three hours from the respondents’ location to their doctor was associated with higher odds of their recognition of remote contact as a method of PKU treatment only in the group of caregivers. In the caregiver groups, the reported worse access to low-Phe products during the lockdown was linked to the perceived difficulty of maintaining the diet. However, such a relationship was not found among patients. In conclusion, significant differences in the perception of the pandemic lockdown and its impact on health and treatment-related issues were found.

show abstract

Section: Discussionmentioning

confidence: 99%

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

et al. 2022

Self Cite

View full text Add to dashboard Cite

show abstract

“…However, most of the studies did not report patients' BMI, nor its comparison with metabolic control. In the literature, some studies have found a positive correlation between mean Phe levels and BMI [3,36,48], and between mean Phe levels and the prevalence of overweight [1,9,34], indicating that good metabolic control is associated with a lower risk of overweight. Conversely, two studies from Spain found a higher prevalence of overweight and BMI in patients with good metabolic control compared to poorly controlled patients [30,49].…”

Section: Summary Of Evidencementioning

confidence: 99%

“…In phenylketonuria (PKU), the prevalence and patient susceptibility to overweight and obesity has been widely discussed. Several retrospective studies have reported a higher body mass index (BMI) and a higher prevalence of overweight in patients with PKU compared to the normal population [1][2][3][4], especially in females [1,[5][6][7][8][9]. Generally, the prevalence of overweight worldwide has almost tripled since 1975 [10].…”

Section: Introductionmentioning

confidence: 99%

Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis

et al. 2021

View full text Add to dashboard Cite

Although there is a general assumption that a phenylalanine (Phe)-restricted diet promotes overweight in patients with phenylketonuria (PKU), it is unclear if this presumption is supported by scientific evidence. This systematic review aimed to determine if patients with PKU are at a higher risk of overweight compared to healthy individuals. A literature search was carried out on PubMed, Cochrane Library, and Embase databases. Risk of bias of individual studies was assessed using the Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies, and the quality of the evidence for each outcome was assessed using the NutriGrade scoring system. From 829 articles identified, 15 were included in the systematic review and 12 in the meta-analysis. Body mass index (BMI) was similar between patients with PKU and healthy controls, providing no evidence to support the idea that a Phe-restricted diet is a risk factor for the development of overweight. However, a subgroup of patients with classical PKU had a significantly higher BMI than healthy controls. Given the increasing prevalence of overweight in the general population, patients with PKU require lifelong follow-up, receiving personalised nutritional counselling, with methodical nutritional status monitoring from a multidisciplinary team in inherited metabolic disorders.

show abstract

“…Jahja et al [ 9 ] reported that adolescent and adult PKU patients demonstrated poorer social cognition and had poorer social skills than controls, with a tendency towards lower or delayed autonomy [ 10 ] and emotional difficulties related to maintaining a PKU diet [ 11 ]. Moreover, patients often feel social isolation and limits on socialisation [ 12 ], with many of them identified as having significant neurocognitive, mental health and general health problems [ 7 , 10 , 13 , 14 ]. An association between parent stress, anxiety, and depression in parents of PKU children has also been described [ 12 , 15 , 16 , 17 , 18 ].…”

Section: Introductionmentioning

confidence: 99%

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

Walkowiak

Mikołuć

Mozrzymas

et al. 2021

IJERPH

Self Cite

View full text Add to dashboard Cite

There is agreement that the pandemic has affected the healthcare system and behaviour of patients. This study aims to identify problems encountered by patients with phenylketonuria (PKU) and their parents/caregivers during the six-week pandemic lockdown in Poland (15 March to 30 April 2020). To determine the factors that influenced health and treatment-related issues, as well as the respondents’ perception of the impact of the pandemic, study participants were asked to complete a non-validated online questionnaire comprising 31 questions (including 27 single-choice, two multiple-choice and two open-ended ones). A total of 571 patients or their parents completed the questionnaire, with 9.5% of respondents not performing any blood phenylalanine (Phe) test in the analysed period, 21.3% declaring a blood Phe increase, and 15.3% a decrease. Increased problems in contacting the doctor or dietitian were reported by 26.1% of subjects, whereas 39.3% of them felt restricted access to dietary products. Most (63.4%) participants were satisfied with remote contact with their PKU clinic. Better compliance was associated with higher odds of acceptance of remote contact and of reporting fewer problems with contacting the doctor, and with lower odds of missing Phe testing. Self-reported high stress was associated with higher odds of reporting the limited availability of low-Phe products and Phe-free formulas, as well as with increased Phe concentrations and non-PKU-related health problems. These patients also had poor dietary compliance and experienced more problems in contacting specialists. Health and treatment-related problems experienced during the pandemic lockdown were related to a higher intensity of stress in patient’s family and worse therapy compliance before the pandemic. Previous experience of remote visits resulted in a better perception of this method of contact. It seems that this form of communication should be popularized and improved to increase therapy effectiveness in case of different limitations in the future. Special attention should be paid to vulnerable patients who may be at extra risk when the provision of standard care is affected.

show abstract

Overweight in classical phenylketonuria children: A retrospective cohort study

Cited by 13 publications

References 35 publications

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

Contact Info

Product

Resources

About