ReviewAmerican journal of speech-language pathology2019
Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.
Review in American journal of speech-language pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 citations in OpenAlex.
- Promoting genetic and genomic practices among allied healthcare professionals and nurses: a systematic review.European journal of human genetics : EJHG · 2026Pooled it
- Using clinical notes to identify children with speech-language delay and understand differences in diagnostic timing.JAMIA open · 2026Article
- Comparisons of longitudinal speech outcomes in children born with cleft palate ± cleft lip with and without additional conditions at 5 and 10 years -a registry study.BMC pediatrics · 2026Article
- Do Palatoplasty Procedures Resolve Hypernasality as Effectively as Pharyngoplasty Procedures in Patients with 22q11.2 Deletion Syndrome?The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- Parental attitudes and experiences in pursuing genetic testing for their child's motor speech disorder.European journal of human genetics : EJHG · 2025Article
- The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.Orphanet journal of rare diseases · 2025Article
- 22q11.2 Deletion Syndrome: Cognitive, Visuomotor, and Adaptive Functioning Followed Longitudinally.Brain and behavior · 2025Article
- Verbal narrative ability and episodic autobiographical memory in adolescents and young adults with 22q11.2 deletion syndrome.Journal of neurodevelopmental disorders · 2025Article
- Development of Speech and Communication in Polish Children with 22q11.2 Deletion Syndrome: A Cross-Sectional Study.Brain sciences · 2024Article
- The 22q11.2 Deletion Syndrome from A Biopsychosocial Perspective: A Series of Cases with an ICF-Based Approach.Children (Basel, Switzerland) · 2024Article
- Aerodynamic Study of Velopharyngeal Insufficiency in 22q11.2 Deletion Syndrome.Journal of personalized medicine · 2024Article
- Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.Prenatal diagnosis · 2024Review
- Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion.Children (Basel, Switzerland) · 2024Article
- Using rare genetic mutations to revisit structural brain asymmetry.Nature communications · 2024Article
- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.Journal of neurodevelopmental disorders · 2023Article
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- Core components of a rehabilitation program in pediatric cardiac disease.Frontiers in pediatrics · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 6 institutions in 3 countries.
Funding
Abstract
Purpose Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management. Method Best practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review. Results This document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population. Conclusion Early diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.