New 22q11 Europe Podcast : Episodes 5, 6 and 7

Episode 5 - Hearing loss and 22q11

• Featured Research Article: Hearing Loss in Children with 22q11.2 Deletion Syndrome (2025)
• Abstract: This comprehensive study confirms the high incidence of hearing loss in children with 22q11.2 deletion syndrome (22q11.2DS), with 73% of children in their cohort having at least one abnormal audiogram. The most common type of hearing loss observed was conductive (76% in the right ear; 69% in the left ear), predominantly mild in severity (66%–68%). Sensorineural hearing loss (SNHL) was less common but identified in a smaller portion of the cohort (10% right ear, 15% left ear) and typically did not progress over time. The findings highlight that hearing loss persists across all pediatric age ranges. Fluctuations in hearing loss were commonly seen, potentially due to chronic otitis media with effusion (COME). Tympanostomy tube placement (ear tubes) was very common, with 39% of children requiring at least one placement, and 55% of those needing multiple sets of tubes. This suggests that ear issues like COME and Eustachian tube dysfunction (ETD) may be chronic concerns for children with 22q11.2DS. The study emphasizes the critical importance of timely diagnosis and treatment of hearing loss in children with 22q11.2DS, especially given the extremely high prevalence of speech delay in this population. Early identification and intervention can prevent further barriers to speech and language development, learning, and school performance. Annual otolaryngologic exams and formal audiogram testing every 1–2 years are recommended for children and adults with 22q11.2DS.
• Reference : "Hearing Loss in Children with 22q11.2 Deletion Syndrome" By Jill Arganbright, MD, et al. in Laryngoscope, 135:929–934, 2025

Episode 6 - Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion

• Featured Research Article: Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion (2025)
• Abstract: This What's New in 22q podcast discusses an important study led by Hester Jaspers Faijer-Westerink. The study focuses on obesity and metabolic syndrome in adults who have 22q11.2 deletion syndrome. The findings show that adults with 22q11.2 syndrome are about twice as likely to experience obesity (both general obesity and fat accumulation around the belly) and metabolic syndrome compared to the general population. Metabolic syndrome is a group of risk factors that significantly increase the chances of developing heart disease and type 2 diabetes. The study found that age is the main factor linked to higher weight and the presence of metabolic syndrome in these adults. Interestingly, the study did not find that the use of certain medications, such as antipsychotics, was a major cause of obesity or metabolic syndrome in this group, contrary to some previous ideas. These discoveries highlight the vital importance of careful and regular medical monitoring from a young age for individuals with 22q11.2 syndrome. Encouraging a healthy lifestyle, including a balanced diet and regular exercise, is essential to prevent these health issues and improve the overall well-being of your loved ones.
• Reference : Jaspers Faijer-Westerink, H., von Scheibler, E.N.M.M., van Rossum, E.F.C. et al. (2025). Obesity and metabolic syndrome in adults with a 22q11.2 microdeletion. International Journal of Obesity, 49, 642–648. https://doi.org/10.1038/s41366-024-01...

Episode 7 - Loneliness and self-esteem in 22q11DS

• Featured Research Article: 1. Loneliness in daily life: A comparison between youths with autism spectrum disorders and 22q11.2 deletion syndrome (2025) 2. Self- Esteem and Psychopathology Differentially Relate to Real- Life and Social Functioning in People With 22q11.2 Deletion Syndrome (2025)
• Abstract: First, Feller et al.'s study, "Loneliness in daily life: A comparison between youths with autism spectrum disorders and 22q11.2 deletion syndrome (22q11DS)" published in Autism Research, explored daily loneliness in young people with 22q11DS. This research showed that their momentary loneliness levels were comparable to typically developing peers, and like others, they felt more lonely when physically alone. Uniquely for 22q11DS, they displayed greater moment-to-moment variability in loneliness and a higher "affinity for being alone." Importantly, loneliness was not significantly tied to a decrease in positive emotions for 22q11DS, unlike other groups. A critical point for families: the mental health reported by the individual with 22q11DS themselves was strongly linked to their feelings of loneliness, emphasizing the importance of valuing their own self-perceptions. Next, Accinni et al.'s research, "Self- Esteem and Psychopathology Differentially Relate to Real- Life and Social Functioning in People With 22q11.2 Deletion Syndrome" from the International Journal of Developmental Neuroscience, focused on self-esteem, mental health, and daily functioning in 22q11DS, including those with psychosis. This study reminds us that psychotic disorders are a frequent concern in 22q11DS. They found that individuals with 22q11DS had similar self-esteem levels whether or not they had developed psychosis. However, those without psychosis showed significantly better overall and social functioning. The study revealed that higher severity of psychotic symptoms was strongly linked to poorer overall and social functioning, and lower self-esteem. While higher self-esteem was associated with better general daily functioning, it wasn't specifically tied to social abilities. This highlights that the severity of psychotic symptoms particularly impacts social and interpersonal functioning in 22q11DS. In summary, these studies offer a nuanced view. They suggest we pay close attention to your loved one’s self-reported feelings of loneliness, understanding their unique fluctuations and comfort with solitude. They also underline that while self-esteem may be consistent, the presence and severity of psychotic symptoms are key factors affecting their engagement in daily life and social interactions. To support them best, encourage social connections as a protective factor against loneliness, and consider psychological interventions to help improve their overall daily functioning.
• Reference : Feller et al.'s study, "Loneliness in daily life: A comparison between youths with autism spectrum disorders and 22q11.2 deletion syndrome (22q11DS) "Self- Esteem and Psychopathology Differentially Relate to Real- Life and Social Functioning in People With 22q11.2 Deletion Syndrome" from the International Journal of Developmental Neuroscience