An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

Knerr, Ina; Zschocke, Johannes; Schellmoser, Stefan; Topf, Hans G; Weigel, Christiane; Dötsch, Jörg; Rascher, Wolfgang

doi:10.1186/1471-2431-5-5

Cited by 8 publications

(6 citation statements)

References 8 publications

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“…Both dyspnea and perceived leg exertion were measured, but we report only Borg ratings for perceived leg exertion since our principal aim was modeling the stimulus‐response function. We employed the Dalhousie pictorial scales [ 11 ] and the Borg scale [ 12 ], chosen because it had been used in previous investigations in adults with similar aims [ 13 , 14 ]. Subjects were first given an explanation of the scale by the research assistant.…”

Section: Methodsmentioning

confidence: 99%

Modeling trajectories of perceived leg exertion during maximal cycle ergometer exercise in children and adolescents

Huebner

Zhang

Therneau

et al. 2014

BMC Med Res Methodol

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BackgroundBorg developed scales for rating pain and perceived exertion in adults that have also been used in pediatric populations. Models describing functional relationships between perceived exertion and work capacity have not been studied in children. We compared different models and their fits to individual trajectories and assessed the variability in these trajectories.MethodsRatings of perceived exertion (RPE) were collected from 79 children. Progressive cycle ergonometric testing was performed to maximal work capacity with test duration ranging from 6‐ 12 minutes. Ratings were obtained during each 1‐minute increment. Work was normalized to individual maximal work capacity (Wmax). A delay was defined as the fraction of Wmax at which point an increase in ratings of leg fatigue occurred. Such a delay term allows the characterization of trajectories for children whose ratings were initially constant with increasing work. Two models were considered, a delay model and a power model that is commonly used to analyze Borg ratings. Individual model fit was assessed with root mean squared error (RMSE). Functional clustering algorithms were used to identify patterns.ResultsLeg tiredness developed quickly for some children while for others there was a delay before an in‐ creased ratings of leg exertion occurred with increasing work. Models for individual trajectories with the smallest RMSE included a delay and a quadratic term (quadratic‐delay model), or a power function and a delay term (power‐delay model) compared to a simple power function. The median delay was 40% Wmax (interquartile range (IQR): 26‐49%) in a quadratic‐delay model, while the median exponent was 1.03 (IQR: 0.83‐1.78) in a power‐delay model. Nine clusters were identified showing linear or quadratic patterns with or without a delay. Cluster membership did not depend on age, gender or diagnosis.ConclusionChildren and adolescents vary widely in their capacity to rate their perceptions and exhibit different functional relationships between ratings of perceived exertion and work capacity normalized across individuals. Models including a delay term, a linear component, or a power function can describe these individual trajectories of perceived leg exertion during incremental exercise to voluntary exhaustion.

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Section: Methodsmentioning

confidence: 99%

Modeling trajectories of perceived leg exertion during maximal cycle ergometer exercise in children and adolescents

Huebner

Zhang

Therneau

et al. 2014

BMC Med Res Methodol

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“…In total, 18 articles reporting pediatric DCRV were collected, 4,8-24 with 3 original articles, 4,8,15 1 case series; 18 and 14 case reports included. [9][10][11][12][13][14]16,17,[19][20][21][22][23][24] As a result, as many as 62 pediatric patients were recruited in this study.…”

Section: Resultsmentioning

confidence: 99%

“…Nine (14.5%) patients had an isolated DCRV, 8,[13][14][15][16][18][19][20] and in 53 (85.5%) patients, the DCRV was associated with one or more congenital heart defects ( 2 =62.5, p<0.001).…”

Section: Resultsmentioning

confidence: 99%

Double-chambered Right Ventricle in Children

Yuan

2019

J Coll Physicians Surg Pak

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The Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement guidelines were followed in this meta-analysis. Publications were systematically searched in the PubMed, Highwire Press, and the Cochrane Library databases from January 2000 to December 2018. The MeSH terms and keywords used to identify articles included "double-chambered", "two-chambered", "right ventricle", "double chambered right ventricle (DCRV)", "anomalous muscle bundles", and "hypertrophied moderator band", with a filter of "pediatrics". The screening of the bibliographic references helped in completing the literature retrieval. Forty-two articles were found related to the topic and keywords in the literature search; and 18 articles, which met the inclusion and exclusion criteria during preliminary assessment, were included in the review. The exclusion criteria were articles of double-chambered left ventricle (n=7), DCRV of adult patients (n=5), no substantial information of pediatric DCRV patients (n=4), pediatric

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“…Three case reports described three women who were diagnosed with PKU only after a pregnancy with MPKU embryopathy; although one was intellectually delayed, the other two were described as completely normal. [27][28][29] Additionally, Plana et al, reported 4 women who were unaware that they were affected by PKU but all had mild intellectual defects and two of the mothers had classical PKU phenotypes. 30 We reported a 32-year-old intellectually normal female who was found to have classical PKU in the course of duo exome sequencing performed because of a history of recurrent pregnancy loss and early neonatal deaths with malformations including brain anomalies and congenital heart defect.…”

Section: Discussionmentioning

confidence: 99%

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

et al. 2023

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Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism resulting from a deficiency of phenylalanine hydroxylase (PAH). If untreated by dietary restriction of phenylalanine intake, impaired postnatal cognitive development results from the neurotoxic effects of excessive phenylalanine (Phe). Signs and symptoms include severe intellectual disability and behavior problems with a high frequency of seizures and variable microcephaly. Maternal PKU syndrome refers to fetal damage resulting in congenital abnormalities when the mother has untreated PKU during pregnancy. Here, we report an intellectually normal 32‐year‐old female who presented with recurrent pregnancy loss and two neonatal deaths with congenital heart disease, microcephaly, intrauterine growth restriction, and respiratory distress. She was diagnosed with PKU through exome sequencing performed for carrier testing with a homozygous pathogenic variant in the PAH gene, c.169_171del, p.(Glu57del) that is associated with classical PKU. Consistent with the genetic finding, she had a markedly increased plasma phenylalanine concentration of 1642 μmol/L (normal <100). This case demonstrates that recurrent pregnancy loss due to untreated maternal PKU may present as an initial finding in otherwise unsuspected classical PKU and illustrates that extreme degrees of variable expressivity may occur in classical PKU. Moreover, this case illustrates the value of genomic sequencing of women who experience recurrent pregnancy loss or neonatal anomalies.

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An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

Cited by 8 publications

References 8 publications

Modeling trajectories of perceived leg exertion during maximal cycle ergometer exercise in children and adolescents

Modeling trajectories of perceived leg exertion during maximal cycle ergometer exercise in children and adolescents

Double-chambered Right Ventricle in Children

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

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