Effect of Dietary Phenylalanine Restriction On Visual Attention Span In Mentally Retarded Subjects With Phenylketonuria

Giffin, Fred; Clarke, Joe T.R.; D'entremont, D

doi:10.1017/s0317167100023490

Cited by 10 publications

(3 citation statements)

References 15 publications

(8 reference statements)

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“…Mainly improvement of motor function (tremors/spasticity) and behaviour (less restless and irritable, more alert/responsive and less aggressive with decreased numbers and severity of self-injury behaviours) are described (Table 16 ). Giffin et al [ 428 ] reported improvement in visual attention span in 2 out of 3 patients. Schuett et al [ 429 ] recounted positive and negative results after diet commencement in 42 mildly and severely intellectually impaired patients concerning outcomes such as mood, hyperactivity, body weight and nausea/vomiting.…”

Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

560

885

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Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. If left untreated, PKU results in increased phenylalanine concentrations in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. PKU management differs widely across Europe and therefore these guidelines have been developed aiming to optimize and standardize PKU care. Professionals from 10 different European countries developed the guidelines according to the AGREE (Appraisal of Guidelines for Research and Evaluation) method. Literature search, critical appraisal and evidence grading were conducted according to the SIGN (Scottish Intercollegiate Guidelines Network) method. The Delphi-method was used when there was no or little evidence available. External consultants reviewed the guidelines. Using these methods 70 statements were formulated based on the highest quality evidence available. The level of evidence of most recommendations is C or D. Although study designs and patient numbers are sub-optimal, many statements are convincing, important and relevant. In addition, knowledge gaps are identified which require further research in order to direct better care for the future.

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Section: Treatment In Specific Patient Groupsmentioning

confidence: 99%

The complete European guidelines on phenylketonuria: diagnosis and treatment

Wegberg

MacDonald

Ahring

et al. 2017

Orphanet J Rare Dis

560

885

View full text Add to dashboard Cite

show abstract

“…One study combined two subsequent interventions (25). Only some dietary interventions might be categorized as diseasemodifying including phenylalanine restriction, and folic acid and L-arginine supplementation (25)(26)(27)(28), although distinction was difficult due to vague demarcations in targeting the possibly underlying mechanisms. Concurrent therapies were mentioned in seven studies.…”

Section: Interventionmentioning

confidence: 99%

“…As for the series, quantitative synthesis of individual data, including subgroup and sensitivity analyses, adjusted analyses, and analyses to determine heterogeneity between participants, were not reported. Moreover, (group) estimated effect sizes and its precision for each primary and secondary outcome were only reported in two studies (27,31).…”

Section: Reporting Of the N-of-1 Trials Against Cent 2015 Criteriamentioning

confidence: 99%

Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders

et al. 2021

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Objective:To improve the use of N-of-1 studies in rare genetic neurodevelopmental disorders, we systematically reviewed the literature and formulated recommendations for future studies.Methods:The systematic review protocol was registered in the PROSPERO International Prospective Register of Systematic Reviews (CRD42020154720). EMBASE and MEDLINE were searched for relevant studies. Information was recorded on types of interventions, outcome measures, validity, strengths and limitations using standard reporting guidelines and critical appraisal tools. Qualitative and descriptive analyses were performed.Results:Twelve studies met N-of-1 inclusion criteria, including both single trials and series. Interventions were mainly directed to neuropsychiatric manifestations. Main strengths were the use of personalized and clinically relevant outcomes in most studies. Generalizability was compromised due to limited use of validated and generalizable outcome measures.Conclusion:N-of-1 studies are sporadically reported in rare genetic neurodevelopmental disorders. Properly executed N-of-1 studies may provide a powerful alternative to larger randomized controlled trials in rare disorders and a much needed bridge between practice and science. We provide recommendations for future N-of-1 studies in rare genetic neurodevelopmental disorders, ultimately optimizing evidence-based and personalized care.

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