Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Lamoureux, Monica; Tingley, Kylie; Kronick, Jonathan B.; Potter, Beth K.; Chan, Alicia; Coyle, Doug; Dodds, Linda; Dyack, Sarah; Feigenbaum, Annette; Geraghty, Michael T.; Gillis, Jonathan; Rockman‐Greenberg, Cheryl; Khan, Aneal; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mhanni, Aizeddin A.; Mitchell, John J.; Mitchell, Grant A.; Laberge, Anne‐Marie; Potter, Murray A.; Prasad, Chitra; Siriwardena, Komudi; Speechley, Kathy N.; Stöckler, Sylvia; Trakadis, Yannis; Turner, Lesley; Wilson, Kumanan; Chakraborty, Pranesh

doi:10.1007/8904_2014_347

Cited by 4 publications

(2 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Consistent with a previous report [24], our survey identified variation in the organization of care within Canadian metabolic centres. Although the evidence with respect to the impact of a coordinated team approach on improved outcomes in the treatment of PAH deficiency is very scarce, one Canadian retrospective study reported that a multidisciplinary centralized approach results in better outcomes in terms of improved adherence to the diet, control of blood Phe, and fewer patients lost to follow up [13].…”

Section: Discussionsupporting

confidence: 89%

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Yuskiv

Potter

Stöckler

et al. 2019

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

BackgroundPhenylalanine hydroxylase (PAH) deficiency is one of 31 targeted inherited metabolic diseases (IMD) for the Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Early diagnosis and initiation of treatment through newborn screening has gradually shifted treatment goals from the prevention of disabling complications to the optimization of long term outcomes. However, clinical evidence demonstrates that subtle suboptimal neurocognitive outcomes are present in the early and continuously diet-treated population with PAH deficiency. This may be attributed to variation in blood phenylalanine levels to outside treatment range and this, in turn, is possibly due to a combination of factors; disease severity, dietary noncompliance and differences in practice related to the management of PAH deficiency. One of CIMDRN’s goals is to understand current practices in the diagnosis and management of PAH deficiency in the pediatric population, from the perspective of both health care providers and patients/families.ObjectivesWe investigated Canadian metabolic dietitians’ perspectives on the nutritional management of children with PAH deficiency, awareness of recently published North American treatment and nutritional guidelines in relation to PAH deficiency, and nutritional care practices within and outside these guidelines.MethodsWe invited 33 dietitians to participate in a survey, to ascertain their use of recently published guidelines and their practices in relation to the nutritional care of pediatric patients with PAH deficiency.ResultsWe received 19 responses (59% response rate). All participants reported awareness of published guidelines for managing PAH deficiency. To classify disease severity, 89% of dietitians reported using pre-treatment blood phenylalanine (Phe) levels, alone or in combination with other factors. 74% of dietitians reported using blood Phe levels ≥360 μmol/L (6 mg/dL) as the criterion for initiating a Phe-restricted diet. All respondents considered 120-360 μmol/L (2–6 mg/dL) as the optimal treatment range for blood Phe in children 0–9 years old, but there was less agreement on blood Phe targets for older children. Most dietitians reported similar approaches to diet assessment and counseling: monitoring growth trends, use of 3 day diet records for intake analysis, individualization of diet goals, counseling patients to count grams of dietary natural protein or milligrams of dietary Phe, and monitoring blood Phe, tyrosine and ferritin.ConclusionWhile Canadian dietitians’ practices in managing pediatric PAH deficiency are generally aligned with those of the American College of Medical Genetics and Genomics (ACMG), and with the associated treatment and nutritional guidelines from Genetic Metabolic Dietitians International (GMDI), variation in many aspects of care reflects ongoing uncertainty and a need for robust evidence.

show abstract

Section: Discussionsupporting

confidence: 89%

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Yuskiv

Potter

Stöckler

et al. 2019

Orphanet J Rare Dis

Self Cite

View full text Add to dashboard Cite

show abstract

“…Basic laboratory tests; such as blood or urinalysis; can be used in conjunction with clinical evaluation to obtain a differential diagnosis or confirm a diagnosis (7). Meanwhile, the long-term care and treatment of IEM patients involves collaboration of healthcare professionals from multiple disciplines; such as physicians, nurses, pharmacists, dietitians, laboratory practitioners, speech therapists, occupational therapists, dentists, and social workers (8)(9)(10)(11)(12)(13)(14). A multidisciplinary team is essential and crucial to provide IEM patients with better quality health care in terms of treatment, psychological support, and educational resources (15).…”

Section: Introductionmentioning

confidence: 99%

Knowledge and perception of inborn errors of metabolism (IEMs) among healthcare students at a selected public university in Klang Valley, Malaysia

Liew

Lim

Yahya

et al. 2022

IRDR

View full text Add to dashboard Cite

knowledge, perception, healthcare, inborn errors metabolism Healthcare providers play an important role in improving the health of Inborn Error of Metabolism (IEM) patients. However, IEM knowledge level among local healthcare students has yet to be determined. Thus, the aim of this study is to assess the knowledge and perception of IEM among local healthcare students. An online self-administered questionnaire was distributed to 378 students across the Faculty of Health Science, Pharmacy and Dentistry from a selected public university in Lembah Klang, Malaysia. For knowledge, a score of 1 is assigned to each correct answer with a maximum total score of 14. Likert scale was used to determine their perception of IEM. The total mean score of IEM knowledge among healthcare students is 5.8. There was no significant difference of mean score of IEM knowledge among the students from the Faculty of Health Science (6.1 ± 2.7), Pharmacy (5.5 ± 2.6) and Dentistry (5.8 ± 2.8). However, the score of knowledge is observed to be significantly different by ethnicity, religion and family history of IEM (p < 0.05). Furthermore, students with experience of meeting an IEM patient and attending IEM classes scored higher than those with no experience (p < 0.05). Most of the healthcare students (89.5%) perceived their knowledge to be insufficient and very poor. Majority of the students from faculty of pharmacy (70.8%) agreed that the IEM course should be mandatory compared to health sciences and dentistry (p < 0.05). This study identified an overall inadequacy of knowledge of IEM among healthcare students. There is a pressing need to improve the IEM-related knowledge and awareness of Malaysian healthcare students. This can be accomplished by incorporating online classes that emphasizes the treatment and management of IEMs in the university curriculum.

show abstract

International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country

Akin

Pekcici

Eminoğlu

2021

Brain and Development

View full text Add to dashboard Cite

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Abstract: The variation we identified in the organization of care highlights the need to investigate the association between practice differences and health outcomes for paediatric IMD patients to inform policies that establish equitable access to services that are beneficial.

Cited by 4 publications

References 17 publications

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians’ current practices

Knowledge and perception of inborn errors of metabolism (IEMs) among healthcare students at a selected public university in Klang Valley, Malaysia

International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country

Contact Info

Product

Resources

About