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Phenylalanine hydroxylase deficiency in children

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"last update: 16 Feb  2025"                                                                                                         Download Guideline

- Annexes

Annex Table 1.

Declaration of Conflict of Interests

The members of the guideline development/ adaptation group and the external review group have no academic, financial, or competing interests to declare and none of them were involved in the development of the original source guideline(s).

Any identified potential COI has been reported below.

Egyptian Pediatric Clinical Practice Guidelines Committee (EPG)

Guideline Adaptation Group (Clinical subgroup)

Name

Affiliation, Area of expertise / Role, Country / Primary location [work]

Declaration of interests

Interest

identified

Management plan & decision

Prof. Solaf M Elsayed

Professor of Medical Genetics,  Medical Genetics Dept, Ain Shams University, Cairo, Egypt

None

Not Applicable

Dr. Shaimaa Gad

Lecturer of Medical Genetics,Medical Genetics Dept.,  Ain Shams University, Cairo, Egypt

None

Not Applicable

Dr. Heba Allah Hosny

Medical Genetics, national institute of Neuromotor System, Cairo, Egypt

None

Not Applicable

Dr. Rana Mahrous

Researcher of Medical genetics, National Research Centre, Cairo, Egypt

None

Not Applicable

Guideline Adaptation Group (Methodology Subgroup)

Prof. Ashraf Abdel Baky

Professor of Pediatrics

Ain Shams University, Egypt

Founder and Chair of EPG

None

Not Applicable

Dr. Yasser Sami Amer

1. Pediatrics Department and Clinical Practice Guidelines and Quality Research Unit, Quality Management Department, King Saud University Medical City, Riyadh, Saudi Arabia;

2. Research Chair for Evidence-Based Health Care and Knowledge Translation, King Saud University, Riyadh, Saudi Arabia;

3. Chair, Adaptation Working Group, Guidelines International Network (GIN), Perth, Scotland

4. Department of Internal Medicine, Ribeirão Preto Medical School, University of São Paulo (FMRP-USP), Ribeirão Preto, São Paulo, Brazil.

None

Not Applicable

Dr. Nanis Sulieman

Associate Professor of Pediatrics

Ain Shams University, Egypt

None

Not Applicable

Dr. Ranin Soliman      

 

1. Assistant Professor of Evidence-based Practice, School of Life and Medical Sciences, University of Hertfordshire, Egypt.

2. Consultant at WHO/EMRO for the Clinical and Public Heath Guideline Adaptation Project in the EMR.

3. Head of Heath Economics and Value Unit, Children’s Cancer Hospital Egypt.

None

Not applicable

Dr. Lamis Mohsen Elsholkamy

Lecturer of Pediatrics, Faculty of Medicine, Modern University for Technology and Information (MTI), Egypt

None

Not Applicable

Dr. Ahmad Yousef

Lecturer of Pediatrics, Faculty of Medicine, Modern University for Technology and Information (MTI), Egypt

None

Not Applicable

Dr. Nahla Gamaleldin

Lecturer of pediatrics, Faculty of Medicine, Modern University for Technology and Information (MTI), Egypt

None

Not Applicable

Dr. Mona Saber

Lecturer of Pediatrics, Faculty of Medicine, Modern University for Technology and Information (MTI), Egypt

None

Not Applicable

External Review Group

 

 

None

Not Applicable

 

 

None

Not Applicable

 

 

None

Not Applicable

External Reviewer for methodology

 

 

 

 

International Peer Reviewers

 

 

 

 

None

Not Applicable

 

 

None

Not Applicable

 

 

None

Not Applicable

 

Web annexes 

The following annexes can be added as a package of standalone supplementary documents.

➡️Keywords: The MeSH terms for "Guideline for PAH deficiency in children. " on PubMed are: ……Phenylketonuria, phenylalanine hydroxylase deficiency, PKU treatment, PKU management .


Annex Table 2. Results of the AGREE II assessment of the three source guidelines for The complete European guidelines on phenylketonuria: diagnosis and treatment.

AGREE II/ CPGs

…………

Domain 1 (Scope)

%93

Domain 2 (Stakeholder)

%92

Domain 3 (Rigour)

%94

Domain 4 (Clarity)

%96

Domain 5 (Applicability)

%70

Domain 6 (Independence)

%100

Overall assessment.

%100

Recommend for use

(Overall assessment .)

YES

 

Results of the AGREE II assessment of the three source guidelines for Epilepsy and vaccinations: Italian guidelines.

AGREE II/ CPGs

…………

Domain 1 (Scope)

%61

Domain 2 (Stakeholder)

%37

Domain 3 (Rigour)

%65

Domain 4 (Clarity)

%89

Domain 5 (Applicability)

%22

Domain 6 (Independence)

%86

Overall assessment.

%83

Recommendation for use

(Overall assessment .)

YES, with modifications

 

PRISMA-ScR-scoping review-Checklist, Breast feeding in infants diagnosed with phenylketonuria (PKU) a scoping review.

SECTION

ITEM

PRISMA-ScR CHECKLIST ITEM

REPORTED ON PAGE #

TITLE

Title

1

Identify the report as a scoping review.

P1

ABSTRACT

Structured summary

2

Provide a structured summary that includes (as applicable): background, objectives, eligibility criteria, sources of evidence, charting methods, results, and conclusions that relate to the review questions and objectives.

P1

INTRODUCTION

Rationale

3

Describe the rationale for the review in the context of what is already known. Explain why the review questions/objectives lend themselves to a scoping review approach.

P1

Objectives

4

Provide an explicit statement of the questions and objectives being addressed with reference to their key elements (e.g., population or participants, concepts, and context) or other relevant key elements used to conceptualize the review questions and/or objectives.

P1

METHODS

Protocol and registration

5

Indicate whether a review protocol exists; state if and where it can be accessed (e.g., a Web address); and if available, provide registration information, including the registration number.

Methods P2
can’t be assessed

Eligibility criteria

6

Specify characteristics of the sources of evidence used as eligibility criteria (e.g., years considered, language, and publication status), and provide a rationale.

Methods P2

Information sources*

7

Describe all information sources in the search (e.g., databases with dates of coverage and contact with authors to identify additional sources), as well as the date the most recent search was executed.

Methods P2

till September 22

Search

8

Present the full electronic search strategy for at least 1 database, including any limits used, such that it could be repeated.

Methods P2

Selection of sources of evidence†

9

State the process for selecting sources of evidence (i.e., screening and eligibility) included in the scoping review.

Methods P2

Data charting process‡

10

Describe the methods of charting data from the included sources of evidence (e.g., calibrated forms or forms that have been tested by the team before their use, and whether data charting was done independently or in duplicate) and any processes for obtaining and confirming data from investigators.

Methods P2

Data items

11

List and define all variables for which data were sought and any assumptions and simplifications made.

P4

Critical appraisal of individual sources of evidence§

12

If done, provide a rationale for conducting a critical appraisal of included sources of evidence; describe the methods used and how this information was used in any data synthesis (if appropriate).

Not available

Synthesis of results

13

Describe the methods of handling and summarizing the data that were charted.

Results P3

RESULTS

Selection of sources of evidence

14

Give numbers of sources of evidence screened, assessed for eligibility, and included in the review, with reasons for exclusions at each stage, ideally using a flow diagram.

Methods P4

Characteristics of sources of evidence

15

For each source of evidence, present characteristics for which data were charted and provide the citations.

Not available

Critical appraisal within sources of evidence

16

If done, present data on critical appraisal of included sources of evidence (see item 12).

Not available

Results of individual sources of evidence

17

For each included source of evidence, present the relevant data that were charted that relate to the review questions and objectives.

P4

Synthesis of results

18

Summarize and/or present the charting results as they relate to the review questions and objectives.

Results P5

DISCUSSION

Summary of evidence

19

Summarize the main results (including an overview of concepts, themes, and types of evidence available), link to the review questions and objectives, and consider the relevance to key groups.

P5

Limitations

20

Discuss the limitations of the scoping review process.

Limitation of the study P5

Conclusions

21

Provide a general interpretation of the results with respect to the review questions and objectives, as well as potential implications and/or next steps.

Discussion P6

FUNDING

Funding

22

Describe sources of funding for the included sources of evidence, as well as sources of funding for the scoping review. Describe the role of the funders of the scoping review.

Funding for the scoping review P7

JBI = Joanna Briggs Institute; PRISMA-ScR = Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews.

* Where sources of evidence (see second footnote) are compiled from, such as bibliographic databases, social media platforms, and Web sites.

† A more inclusive/heterogeneous term used to account for the different types of evidence or data sources (e.g., quantitative and/or qualitative research, expert opinion, and policy documents) that may be eligible in a scoping review as opposed to only studies. This is not to be confused with information sources (see first footnote).

‡ The frameworks by Arksey and O’Malley (6) and Levac and colleagues (7) and the JBI guidance (4, 5) refer to the process of data extraction in a scoping review as data charting.

§ The process of systematically examining research evidence to assess its validity, results, and relevance before using it to inform a decision. This term is used for items 12 and 19 instead of "risk of bias" (which is more applicable to systematic reviews of interventions) to include and acknowledge the various sources of evidence that may be used in a scoping review (e.g., quantitative and/or qualitative research, expert opinion, and policy document).

From: Tricco AC, Lillie E, Zarin W, O'Brien KK, Colquhoun H, Levac D, et al. PRISMA Extension for Scoping Reviews (PRISMAScR): Checklist and Explanation. Ann Intern Med. 2018;169:467–473. doi: 10.7326/M18-0850.

 

Annex Table 3. Annex Nurses and Parents Educational Guide in Arabic

Appendix Table 4. The RIGHT-Ad@pt checklist

7 sections, 27 topics, and 34 items

Assessment

Page(s)*

Note(s)

BASIC INFORMATION

Title/subtitle

1

Identify the report as an adaptation of practice guideline(s), that is include "guideline adaptation", "adapting", "adapted guideline/recommendation(s)", or similar terminology in the title/subtitle.

Yes

No

Unclear

 

 

2

Describe the topic/focus/scope of the adapted guideline.

Yes

No

Unclear

 

 

Cover/first page

3

Report the respective dates of publication and the literature search of the adapted guideline.

Yes

No

Unclear

 

 

4

Describe the developer and country/region of the adapted guideline.

Yes

No

Unclear

 

 

Executive summary/abstract

5

Provide a summary of the recommendations contained in the adapted guideline.

Yes

No

Unclear

 

 

Abbreviations and acronyms

6

Define key terms and provide a list of abbreviations and acronyms (if applicable).

Yes

No

Unclear

 

 

Contact information of the guideline adaptation group

7

Report the contact information of the developer of the adapted guideline.

Yes

No

Unclear

 

 

SCOPE

Source guideline(s)

8

Report the name and year of publication of the source guideline(s), provide the citation(s), and whether source authors were contacted.

Yes

No

Unclear

 

 

Brief description of the health problem(s)

9

Provide the basic epidemiological information about the problem (including the associated burden), health systems relevant issues, and note any relevant differences compared to the source guideline(s).

 

Yes

No

Unclear

 

 

Aim(s) and specific objectives

10

Describe the aim(s) of the adapted guideline and specific objectives, and note any relevant differences compared to the source guideline(s).

Yes

No

Unclear

 

 

Target population(s)

11

Describe the target population(s) and subgroup(s) (if applicable) to which the recommendation(s) is addressed in the adapted guideline, and note any relevant differences compared to the source guideline(s).

Yes

No

Unclear

 

 

End-users and settings

12

Describe the intended target users of the adapted guideline, and note any relevant differences compared to the source guideline(s).

Yes

No

Unclear

 

 

13

Describe the setting(s) for which the adapted guideline is intended, and note any relevant differences compared to the source guideline(s).

Yes

No

Unclear

 

 

RIGOR OF DEVELOPMENT

Guideline adaptation group

14

List all contributors to the guideline adaptation process and describe their selection process and responsibilities.

Yes

No

Unclear

 

 

Adaptation framework/methodology

15

Report which framework or methodology was used in the guideline adaptation process.

Yes

No

Unclear

 

 

Source guideline(s)

16

Describe how the specific source guideline(s) was(were) selected.

Yes

No

Unclear

 

 

Key questions

17

State the key questions of the adapted guideline using a structured format, such as PICO (population, intervention, comparator, and outcome), or another format as appropriate.

Yes

No

Unclear

 

 

18

Describe how the key questions were developed/modified, and/or prioritized.

Yes

No

Unclear

 

 

Source recommendation(s)

19

Describe how the recommendation(s) from the source guideline(s) was(were) assessed with respect to the evidence considered for the different criteria, the judgements and considerations made by the original panel.

Yes

No

Unclear

 

 

Evidence synthesis

20

Indicate whether the adapted recommendation(s) is/are based on existing evidence from the source guideline(s), and/or additional evidence.

Yes

No

Unclear

 

 

21

If new research evidence was used, describe how it was identified and assessed.

Yes

No

Unclear

NA

 

Assessment of the certainty of the body of evidence and strength of recommendation

22

Describe the approach used to assess the certainty/quality of the body/ies of evidence and the strength of recommendations in the adapted guideline and note any differences (if applicable) compared to the source guideline(s).

Yes

No

Unclear

NA

 

Decision-making processes

23

Describe the processes used by the guideline adaptation group to make decisions, particularly the formulation of recommendations.

 

Yes

No

Unclear

 

 

RECOMMENDATIONS

Recommendations

24

Report recommendations and indicate whether they were adapted, adopted, or de novo.

Yes

No

Unclear

 

 

25

Indicate the direction and strength of the recommendations and the certainty/quality of the supporting evidence and note any differences compared to the source recommendations(s) (if applicable).

Yes

No

Unclear

 

 

26

Present separate recommendations for important subgroups if the evidence suggests important differences in factors influencing recommendations and note any differences compared to the source recommendations(s) (If applicable).

Yes

No

Unclear

 

 

Rationale/explanation for recommendations

27

Describe the criteria/factors that were considered to formulate the recommendations or note any relevant differences compared to the source guideline(s) (if applicable).

Yes

No

Unclear

 

 

EXTERNAL REVIEW AND QUALITY ASSURANCE

External review

28

Indicate whether the adapted guideline underwent an independent external review. If yes, describe the process.

Yes

No

Unclear

 

 

Organizational approval

29

Indicate whether the adapted guideline obtained organizational approval. If yes, describe the process.

Yes

No

Unclear

SNS  & NEBMC

 

FUNDING, DECLARATION, AND MANAGEMENT OF INTEREST

Funding source(s) and funder role(s)

30

Report all sources of funding for the adapted guideline and source guideline(s), and the role of the funders.

Yes

No

Unclear

 

 

Declaration and management of interests

31

Report all conflicts of interest of the adapted and the source guideline(s) panels, and how they were evaluated and managed.

Yes

No

Unclear

 

 

OTHER INFORMATION

Implementation

32

Describe the potential barriers and strategies for implementing the recommendations (if applicable).

Yes

No

Unclear

 

 

Update

33

Briefly describe the strategy for updating the adapted guideline (if applicable).

Yes

No

Unclear

 

 

Limitations and suggestions for further research

34

Describe the challenges of the adaptation process, the limitations of the evidence, and provide suggestions for future research.

Yes

No

Unclear

--

 

 

Figure (1): Treatment of PAH deficiency according to Phe level

 

 

 

   Figure (2): Target Phe levels for optimal management in  PAH deficiency