Transition of young adults with phenylketonuria from pediatric to adult care

Mütze, Ulrike; Roth, Annika; Weigel, Johannes; Beblo, Skadi; Baerwald, Christoph; Bührdel, P; Kieß, Wieland

doi:10.1007/s10545-011-9284-x

Cited by 63 publications

(55 citation statements)

References 42 publications

(50 reference statements)

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“…27,28,29,30,72,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89,90,91,92,93,94,95,96,97,98 Psychiatric and executive function impairments such as attention and processing-speed deficits, 73,77,80 behavioral and emotional problems, 81 psychiatric disorders, 73,81 and cognitive deficits 73,81,82,83 may have an overall negative effect on the individual's quality of life. If an adult is not followed by a metabolic clinic, he or she may not know that diet treatment is now recommended for life or that new treatment options are available that may make adherence more attainable.…”

Section: Discussionmentioning

confidence: 99%

“…Familial, 84,85,88,89,90 social, 27,91,92 and health-care provider support systems 27,30,85 are important to assist individuals with pursuing treatment for PKU. 85,86,87 Distance to the metabolic clinic, lack of transportation, and inability to get time off work have also been cited as reasons for not accessing treatment.…”

Section: Discussionmentioning

confidence: 99%

“…76,92,97 Some metabolic clinics have initiated adult-focused clinics to transition patients from pediatric to adult care. However, patient response to transition varies; some patients report feeling uncomfortable at pediatric clinics, whereas others are uncomfortable transitioning from clinics where they have been followed since childhood.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Newborn screening 50 years later: access issues faced by adults with PKU

Berry

Brown

Grant

et al. 2013

Genetics in Medicine

112

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Fifty years after the implementation of universal newborn screening programs for phenylketonuria, the first disease identified through newborn screening and considered a success story of newborn screening, a cohort of adults with phenylketonuria treated from birth provides valuable information about effects of long-term treatment for inborn errors of metabolism in general, and phenylketonuria specifically. For phenylketonuria, newborn screening allows early implementation of the phenylalanine-restricted diet, eliminating the severe neurocognitive and neuromotor impairment associated with untreated phenylketonuria. However, executive function impairments and psychiatric problems are frequently reported even for those treated early and continuously with the phenylalanine-restricted diet alone. Moreover, a large percentage of adults with phenylketonuria are reported as lost to follow-up by metabolic clinics. While a group of experts identified by the National Institutes of Health convenes to update treatment guidelines for phenylketonuria, we explore individual patient, social, and economic factors preventing >70% of adult phenylketonuria patients in the United States from accessing treatment. As more conditions are identified through newborn screening, factors affecting access to treatment grow in importance, and we must continue to be vigilant in assessing and addressing factors that affect patient treatment outcomes and not just celebrate amelioration of the most severe manifestations of disease.Genet Med 2013:15(8):591–599

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Newborn screening 50 years later: access issues faced by adults with PKU

Berry

Brown

Grant

et al. 2013

Genetics in Medicine

112

View full text Add to dashboard Cite

show abstract

“…Two studies that provided comparative German census data did report differences in educational attainment between subjects with PKU and the general population. In the first study, patients with PKU, 96% of whom were on a restricted diet, achieved lower levels of academic achievement, specifically for graduation at senior high school level, compared with the general population . The second study found that educational attainment was only lower in patients with PKU whose treatment was interrupted (for at least 4 years starting at the age of 7‐14 years), while patients who had been continuously treated until the end of adolescence demonstrated comparable education status to the census population .…”

Section: Social Outcomesmentioning

confidence: 98%

“…Several studies used standardized QoL tests, which reported good QoL in patients, comparable with that of healthy controls . However, specific QoL domains may be affected in adults with PKU, despite normal scores overall.…”

Section: Quality Of Lifementioning

confidence: 99%

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

Burlina

Lachmann

Manara

et al. 2019

J of Inher Metab Disea

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Newborn screening for phenylketonuria (PKU) and early introduction of dietary therapy has been remarkably successful in preventing the severe neurological features of PKU, including mental retardation and epilepsy. However, concerns remain that long‐term outcome is still suboptimal, particularly in adult patients who are no longer on strict phenylalanine‐restricted diets. With our systematic literature review we aimed to describe the neurological phenotype of adults with early‐treated phenylketonuria (ETPKU). The literature search covered the period from 1 January 1990 up to 16 April 2018, using the NLM MEDLINE controlled vocabulary. Of the 643 records initially identified, 83 were included in the analysis. The most commonly reported neurological signs were tremor and hyperreflexia. The overall quality of life (QoL) of ETPKU adults was good or comparable to control populations, and there was no evidence for a significant incidence of psychiatric disease or social difficulties. Neuroimaging revealed that brain abnormalities are present in ETPKU adults, but their clinical significance remains unclear. Generally, intelligence quotient (IQ) appears normal but specific deficits in neuropsychological and social functioning were reported in early‐treated adults compared with healthy individuals. However, accurately defining the prevalence of these deficits is complicated by the lack of standardized neuropsychological tests. Future research should employ standardized neurological, neuropsychological, and neuroimaging protocols, and consider other techniques such as advanced imaging analyses and the recently validated PKU‐specific QoL questionnaire, to precisely define the nature of the impairments within the adult ETPKU population and how these relate to metabolic control throughout life.

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Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

Peron

Canevini

Ghelma

et al. 2018

American J of Med Genetics Pt C

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Healthcare transition from childhood to adulthood is required to ensure continuity of care of an increasing number of individuals with chronic conditions surviving into adulthood. The transition for patients with tuberous sclerosis complex (TSC) is complicated by the multisystemic nature of this condition, age‐dependent manifestations, and high clinical variability and by the presence of intellectual disability in at least half of the individuals. In this article, we address the medical needs regarding each TSC‐related manifestation in adulthood, and the services and support required. We review existing models of transition in different chronic conditions, discuss our experience in transitioning from the pediatric to the adult TSC Clinic at our Institution, and propose general rules to follow when establishing a transition program for TSC. Although a generalizable transition model for TSC is likely not feasible for all Institutions, a multidisciplinary TSC clinic is probably the best model, developed in accordance with the resources available and country‐specific healthcare systems. Coordination of care and education of the adult team should be always sought regardless of the transition model.

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Transition of young adults with phenylketonuria from pediatric to adult care

Cited by 63 publications

References 42 publications

Newborn screening 50 years later: access issues faced by adults with PKU

Newborn screening 50 years later: access issues faced by adults with PKU

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

Healthcare transition from childhood to adulthood in Tuberous Sclerosis Complex

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