New 22q11 Europe Podcast : Episodes 20, 21 and 22

Episode 20 - Parental and Familial Factors Influencing Child Outcomes in 22q11

• Featured Research Article: Parental and Familial Factors Influencing Child Outcomes in 22q11
• Abstract: For parents navigating the complexities of raising a child with a neurodevelopmental disorder (NDD), such as 22q11.2 Deletion Syndrome (22q11DS), research highlights that the family environment and caregiver well-being play a critical role in the child's developmental and psychological outcomes. Understanding these reciprocal influences can illuminate pathways for effective intervention and support. This podcast's episode was specifically requested by parents.

Episode 21 - Vaccine immunity in patients with 22q11.2 microdeletion syndrome

• Featured Research Article: Vaccine immunity in patients with 22q11.2 microdeletion syndrome
• Abstract: The research published in the journal Pediatric Allergy and Immunology reports on a study regarding vaccine immunity in patients with 22q11 DS, also known as DiGeorge syndrome. The authors conducted a prospective observational study on 41 MDS patients aged 1 to 25 years old to analyze their seroprotection levels against various vaccine-preventable diseases. The research indicates that while most patients maintained protection against diseases like tetanus and diphtheria, a significant number of individuals with MDS demonstrated suboptimal or waning immunity to vaccines for measles, varicella, hepatitis B, and pneumococcus. This suggests a need for routine antibody level assessments and reimmunization in this population, irrespective of their initial vaccination status, to enhance long-term vaccine protection.
• Reference: Farpour, L., Gualtieri, R., Kotalova, T., Lemaître, B., Ducreux, J., Arm-Vernez, I., Eliez, S., & Blanchard-Rohner, G. (2025). Vaccine immunity in patients with 22q11.2 microdeletion syndrome. Pediatric Allergy and Immunology. https://doi.org/10.1111/pai.70043

Episode 22 - Otolaryngologic problems in 22q11

• Featured Research Article:
  • Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2
  • Otorhinologic Disorders in 22q11.2 Deletion Syndrome
  • Otolaryngologic disease in 22q11.2 deletion syndrome: spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort
• Abstract: The 22q11.2 deletion syndrome (DiGeorge syndrome) is a multisystem genetic disorder associated with numerous ear, nose, and throat (ENT) complications throughout life. In children, palatal abnormalities are common and may lead to velopharyngeal dysfunction, resulting in speech difficulties and language delays that often require speech therapy. Chronic otitis media with effusion is also very common and is frequently associated with conductive hearing loss, often necessitating the insertion of tympanostomy tubes. Airway abnormalities and obstructive sleep apnea are likewise frequently observed. In adulthood, the auditory profile typically evolves toward predominantly sensorineural hearing loss affecting the high frequencies, which often goes unrecognized. A history of chronic otitis media and increasing age are associated with a higher risk of hearing impairment. Other common ENT manifestations include recurrent otitis media, balance disorders, globus sensation, and swallowing difficulties. Given the frequency and diversity of these complications, regular ENT follow-up, including appropriate audiological assessments, as well as multidisciplinary management, are recommended throughout life to optimize functional outcomes and improve patients' quality of life.
• Reference: 1. von Scheibler, E. N. M. M., Widdershoven, J. C. C., van Barneveld, D. C. P. B. M., Schröder, N., van Eeghen, A. M., van Amelsvoort, T. A. M. J., & Boot, E. (2024). Hearing loss and history of otolaryngological conditions in adults with microdeletion 22q11.2. American Journal of Medical Genetics Part A, 194(3), e63456. https://doi.org/10.1002/ajmg.a.63456 2. Lu, N., Kacin, A. J., Shaffer, A. D., & Stapleton, A. L. (2023). Otorhinologic disorders in 22q11.2 deletion syndrome. Otolaryngology–Head and Neck Surgery, 169(4), 1012–1019. https://doi.org/10.1002/ohn.331 3. Hack, S., & Madgar, O. (2025). Otolaryngologic disease in 22q11.2 deletion syndrome: Spectrum, co-occurrence, and outcomes in a contemporary pediatric cohort. European Archives of Oto-Rhino-Laryngology. Advance online publication. https://doi.org/10.1007/s00405-025-09...