Abstract
Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, and behavioral features of 28 patients with 22q11.2 dup (median age=17.11 years) are reported, and phenotypes of de novo and inherited duplications are compared. Common medical anomalies include nutritional problems (57%), failure to thrive (33%), transient hearing impairment (52%), and congenital heart defects (33%). Developmental, speech-language, and motor delay are common in infancy, while attention (64%), learning (60%), and motor problems (52%) are typically reported at primary school age. Attention-deficit/hyperactivity disorders are diagnosed in 44%. Median full-scale intelligence quotient is in the borderline range (IQ 76), with one-fifth of patients having mild intellectual disability. Longitudinal data in 11 patients, with the first assessment at a median age of 5.2 years and the second assessment at a median age of 8.8 years, indicate that almost two-third of patients have a relative stable cognitive trajectory, whereas one-third show a growing into deficit profile. In patients with de novo duplications, there is a trend of more failure to thrive, while more patients with inherited duplications follow special education.
Highlights
22q11.2 Deletion Syndrome (22q11.2DS) is associated with high risk of psychiatric disorders and cognitive impairment
Prevalence of psychiatric disorders appears to follow different trajectories over the lifespan, such as the rate of anxiety disorders remaining relatively stable across developmental stages[6], whereas the rate of attention deficit hyperactivity disorder (ADHD) diagnosis declines, with 33–43% individuals no longer reaching diagnostic criteria at follow-up in adolescence[7,8]
There was no difference between sibling and community controls in Full scale IQ (FSIQ) (p = 0.322), verbal IQ (VIQ) (p = 0.841) or performance IQ (PIQ) (p = 0.318)
Summary
Participants Three hundred and forty-two participants (236 individuals with 22q11.2DS and 106 controls) were recruited from three sites across Europe (see Supplementary Table 1). Mean FSIQ, VIQ, and PIQ scores were compared between sibling and community controls with t-tests (with correction for unequal variance if applicable) to investigate whether these different groups of typically developing individuals performed differently. Within each developmental stage the mean score for the control sample (typically developing siblings for the children and adolescents and community controls for the adults) was subtracted from the score of each individual with 22q11.2DS for each cognitive measure. This produced a difference score for each individual with 22q11.2DS on each measure. If the original p-value is below the Benjamini-Hochberg critical value, it survives FDR correction
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