Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Boot, Erik; Óskarsdóttir, Sólveig; Loo, Joanne C. Y.; Crowley, T. Blaine; Orchanian‐Cheff, Ani; Andrade, Danielle M.; Arganbright, Jill M.; Castelein, René M.; Cserti‐Gazdewich, Christine; Reuver, Steven de; Fiksinski, Ania; Klingberg, Gunilla; Lang, Anthony E.; Mascarenhas, Maria R.; Moss, Edward; Nowakowska, Beata; Oechslin, Erwin; Palmer, Lisa D.; Repetto, Gabriela M.; Reyes, Nikolai Gil D.; Schneider, Maude; Silversides, Candice; Sullivan, Kathleen E.; Swillen, Ann; Amelsvoort, Thérèse van; Batavia, Jason P. Van; Vingerhoets, Claudia; McDonald‐McGinn, Donna M.; Bassett, Anne S.

doi:10.1016/j.gim.2022.11.012

Cited by 30 publications

(22 citation statements)

References 169 publications

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“…Increased awareness of pediatricians and specialists in different fields of medicine about the broad spectrum of phenotypic features of 22q11.2 DS they may encounter is therefore indispensable. Comprehensive multidisciplinary care should be provided to patients with 22q11.2 DS by cardiologists, cardiosurgeons, endocrinologists, laryngologists, neurologists, surgeons, and geneticists, under the clinical immunologist's supervision [155][156][157]. Clinical centers of excellence with multidisciplinary expertise in comprehensive care for patients with 22q11.2 DS provide careful monitoring and timely interventions.…”

Section: Discussionmentioning

confidence: 99%

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Szczawińska-Popłonyk¹,

Schwartzmann

Chmara

et al. 2023

IJMS

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The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features, making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects—most frequently conotruncal cardiac anomalies—thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, and neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers and environmental factors, as well as the impact of hemizygosity on the remaining allele, contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.

show abstract

Section: Discussionmentioning

confidence: 99%

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Szczawińska-Popłonyk¹,

Schwartzmann

Chmara

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

“…Increased awareness of pediatricians and specialists in different fields of medicine about the broad spectrum of phenotypic features of 22q11.2 DS they may encounter, is therefore, indispensable. Comprehensive multidisciplinary care should be provided to patients with 22q11.2 DS by cardiologists, cardiosurgeons, endocrinologists, laryngologists, neurologists, surgeons, and geneticists, under the clinical immunologist's supervision [150][151][152].…”

Section: Discussionmentioning

confidence: 99%

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical Approach

Szczawińska-Popłonyk¹,

Schwartzmann²,

Chmara³

et al. 2023

Preprint

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The 22q11.2 deletion syndrome is a multisystemic disorder characterized by a marked variability of phenotypic features making the diagnosis challenging for clinicians. The wide spectrum of clinical manifestations includes congenital heart defects, most frequently conotruncal cardiac anomalies, thymic hypoplasia and predominating cellular immune deficiency, laryngeal developmental defects, midline anomalies with cleft palate and velar insufficiency, structural airway defects, facial dysmorphism, parathyroid and thyroid gland hormonal dysfunctions, speech delay, developmental delay, neurocognitive and psychiatric disorders. Significant progress has been made in understanding the complex molecular genetic etiology of the 22q11.2 deletion syndrome underpinning the heterogeneity of clinical manifestations. The deletion is caused by chromosomal rearrangements in meiosis and is mediated by non-allelic homologous recombination events between low copy repeats or segmental duplications in the 22q11.2 region. A range of genetic modifiers, environmental factors as well as the impact of hemizygosity on the remaining allele contribute to the intricate genotype-phenotype relationships. This comprehensive review has been aimed at highlighting the molecular genetic background of 22q11.2 deletion syndrome in correlation with a clinical multidisciplinary approach.

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“…We recommend otolaryngological examination at least once for adults with 22q11.2DS. Special attention should be paid to conditions that may present at adult age and may have treatment implications, such as OSA (Boot et al, 2023; Cancelliere et al, 2023), globus pharyngeus (Khalil et al, 2003), dysphagia, and vestibular dysfunction.…”

Section: Discussionmentioning

confidence: 99%

Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

von Scheibler,

Widdershoven,

van Barneveld

et al. 2023

American J of Med Genetics Pt A

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Previous studies have shown that the 22q11.2 microdeletion, associated with 22q11.2 deletion syndrome (22q11.2DS), conveys an increased risk of chronic otitis media, and hearing loss at young age. This study reports on hearing loss and history of otolaryngological conditions in adults with 22q11.2DS. We conducted a retrospective study of 60 adults with 22q11.2DS (41.7% male) at median age 25 (range 16–74) years who had visited an otolaryngologist and audiologist for routine assessment at a 22q11.2 expert center. Demographic, genetic, audiometric, and otolaryngological data were systematically extracted from the medical files. Regression analysis was used to evaluate the effect of age, sex, full‐scale intelligence quotient, and history of chronic otitis media on the severity of hearing loss. Hearing loss, mostly high‐frequency sensorineural, was found in 78.3% of adults. Higher age and history of chronic otitis media were associated with more severe hearing loss. Otolaryngological conditions with possible treatment implications included chronic otitis media (56.7%), globus pharyngeus (18.3%), balance problems (16.7%), and obstructive sleep apnea (8.3%). The results suggest that in 22q11.2DS, high‐frequency hearing loss appears to be common from a young adult age, and often unrecognized. Therefore, we recommend periodic audiometric screening in all adults, including high‐frequency ranges.

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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

Cited by 30 publications

References 169 publications

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach

Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Cinical Approach

Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2

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