Executive Summary: Providing a Primary Care Medical Home for Children and Youth With Cerebral Palsy

Noritz, Garey; Davidson, Lynn; Steingass, Katherine

doi:10.1542/peds.2022-060056

Cited by 5 publications

(11 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Characteristics of the nine included articles are shown in Table 1 and details of the genetic testing recommendations within each article are outlined in Table 2. The publication years ranged from 2000 to 2022, and only four guidelines were published within the last five years (2018 and onward) [17][18][19][20] . The nine guidelines were from six medical societies representing four specialties (pediatrics, neurology, medical genetics, and psychiatry): American Academy of Child and Adolescence Psychiatry (AACAP), American Academy of Neurology (AAN), American Academy of Pediatrics (AAP), American College of Medical Genetics and Genomics (ACMG), American Society of Human Genetics (ASHG), and Child Neurology Society (CNS).…”

Section: Results: Overview Of Professional Society Guidelinesmentioning

confidence: 99%

“…Among the six guidelines referencing ASD, only two were from the past five years: the AAP 2020 guidelines on DD 17 as mentioned above and the AAP 2020 guidelines on ASD 20 . For CP, there was one recent society guideline, from the AAP in 2022 19 . A 2004 guideline on CP from the AAN 25 was retired and thus excluded from our scoping review; no updated guideline on CP from the AAN was identified.…”

Section: Results: Many Professional Society Guidelines Are Outdatedmentioning

confidence: 99%

“…Four society guidelines focused exclusively on ASD 10,20,22,23 , and two guidelines discussed ASD in addition to GDD/ID 5,17 . With respect to CP, there was one contemporary society guideline, from the American Academy of Pediatrics (AAP) in 2022 19 . Out of these nine guidelines, only the ACMG guidelines, published in 2021, recommended WGS or ES as a first- or second-tier test for unexplained NDDs 18 .…”

Section: Results: Overview Of Professional Society Guidelinesmentioning

confidence: 99%

“…The most recent society guidelines pertaining to ASD have also recommended non-NGS technologies as first-tier genetic tests, including: Karyotype, Fragile X testing, or CMA (AACAP 2014 guidelines focused on ASD 23 ) Karyotype (AAN and CNS 2000 guidelines focused on ASD 10 ) CMA and Fragile X testing (AAP 2020 guidelines focused on ASD 20 ; AAP 2020 guidelines focused on DD including GDD and ASD 17 ; ACMG 2013 guidelines focused on ASD 22 ; ASHG 2010 guidelines focused on DD/ID, ASD, and multiple congenital anomalies 5 ) Recent guidelines on CP from the AAP 2022 19 referenced genetic testing for a subset of patients (“diagnostic evaluation may include advanced genetic techniques, such as chromosomal microarray and genomic sequencing”) but did not provide detailed guidance for when this is indicated or the specific type of genetic testing that should be pursued.…”

Section: Results: Recommendations Do Not Reflect Contemporary Knowledgementioning

confidence: 99%

See 3 more Smart Citations

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Srivastava,

Cole,

Cohen

et al. 2024

Preprint

View full text Add to dashboard Cite

Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies’ guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy. We describe several identified shortcomings and argue the need for a unified, frequently-updated and easily-accessible cross-specialty society guideline.

show abstract

Section: Results: Overview Of Professional Society Guidelinesmentioning

confidence: 99%

Section: Results: Many Professional Society Guidelines Are Outdatedmentioning

confidence: 99%

Section: Results: Overview Of Professional Society Guidelinesmentioning

confidence: 99%

Section: Results: Recommendations Do Not Reflect Contemporary Knowledgementioning

confidence: 99%

See 2 more Smart Citations

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Srivastava,

Cole,

Cohen

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Questo porta a un punto centrale che dobbiamo trarre dal lavoro di Ammaniti: il focus sui singoli bambini e le loro qualità uniche, non guardandoli semplicemente in termini di diagnosi mediche. Questo focus ci riporta anche alla necessità, quando ci si allontana da una semplice diagnosi medica, di considerare la famiglia del bambino e le sue esigenze [13].…”

Section: Diagnosi Precoceunclassified

Passoscuro e oltre: riflessioni sul passato e sulle possibilità future

Murray

2023

QACP

View full text Add to dashboard Cite

show abstract

Long-term outcomes of reconstructive treatment for painful dislocations in patients with cerebral palsy

Koch,

Kasprzyk,

Musielak

et al. 2024

Journal of Children's Orthopaedics

View full text Add to dashboard Cite

Purpose: This report presents the long-term results of the hip joint reconstruction in patients with spastic hip disease through open reduction, proximal femur varus derotation osteotomy, and Dega transiliac osteotomy. Methods: We analyzed retrospectively patients diagnosed with a spastic form of bilateral cerebral palsy with painful hip subluxation or dislocation. All patients underwent the same surgical procedure. The minimum follow-up time was 15 years. The study group comprised 15 patients (22 hips), classified with the Gross Motor Function Classification System as levels IV and V. The hip joint range of motion and anteroposterior X-ray examination at the final follow-up visit were compared with pre-operative data. The pain level was evaluated using the Visual Analogue Scale (VAS), and the femoral head shape was assessed using the Rutz classification. The patients’ caregivers answered questions regarding pain during sitting, personal hygiene activities, and at rest. The caregivers’ satisfaction with the treatment was also assessed with the Caregiver Priorities and Child Health Index of Life with Disabilities questionnaire. Results: We observed a significant reduction of the hip joint pain and improvement in both radiological hip stability parameters and range of motion at the final follow-up visit. Based on the Rutz classification, one hip remained type B, while the other joints became type A. Reduced pain was reported in all three positions, with the most pronounced improvement during sitting and personal hygiene activities. Interestingly, patients with unilateral hip reconstruction were more prone to pain after reconstruction than those operated bilaterally. Conclusion: Primary reconstruction of the painful hip joint neurogenic dislocation results in a stable joint reduction, pain decrease, and improved quality of life in patients with cerebral palsy. Level of evidence: IV case series.

show abstract

Executive Summary: Providing a Primary Care Medical Home for Children and Youth With Cerebral Palsy

Cited by 5 publications

References 0 publications

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Passoscuro e oltre: riflessioni sul passato e sulle possibilità future

Long-term outcomes of reconstructive treatment for painful dislocations in patients with cerebral palsy

Contact Info

Product

Resources

About