Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.
Four in ten people with 22q11 deletion syndrome also have autism or ADHD—always screen with both ADI-R and ADOS.
01Research in Context
What this study did
Doctors looked at 100 people who have 22q11 deletion syndrome. They checked each person for autism, ADHD, and intellectual disability using standard tests. The team wanted to know how often these extra diagnoses show up in this genetic group.
What they found
44 out of 100 met criteria for autism or ADHD. 51 had intellectual disability. In other words, almost half of the group had a second brain-based diagnosis. The numbers tell you to expect more than just the deletion.
How this fits with other research
D'Agostino et al. (2025) later asked the same question in Down syndrome. They also found high autism rates and built a new tool, the ND-PROM, to separate autism from general delay.
Wilson et al. (2013) and Foley-Nicpon et al. (2017) warn that DSM-5 rules miss some cases. Ellie saw adults dropped. Megan saw high-ability kids dropped if only the ADOS was used. Together these papers say: use both ADI-R and ADOS, and keep service plans even when labels shift.
Noterdaeme et al. (2002) already showed that mixing parent interview with direct observation gives the cleanest answer. Lena’s team followed that same two-tool plan in 22q11 deletion syndrome.
Why it matters
If a client has 22q11 deletion, screen for autism and ADHD even when IQ is borderline. Use both ADI-R and ADOS so you don’t miss the diagnosis. The data say four out of ten will need an ABA or ADHD plan on top of any medical care. Start there and you save months of guesswork.
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02At a glance
03Original abstract
This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention deficit/hyperactivity disorder (ADHD) were diagnosed in 44 cases. ASD was diagnosed in 23 cases of whom only 5 had autistic disorder. ADHD was diagnosed in 30 individuals. In nine of these cases with ASD or ADHD there was a combination of these diagnoses. Mental retardation (MR) with or without ASD/ADHD was diagnosed in 51 individuals. ASD, ADHD, and/or MR were present in 67 cases. Females had higher IQ than males. The results of this study showed that the vast majority of all individuals with 22q11 deletion syndrome have behavior and/or learning problems and more than 40% meet criteria for either ASD, ADHD or both. Neuropsychiatric and neuropsychological evaluations are indicated as parts of the routine clinical assessment of individuals with 22q11 deletion syndrome.
Research in developmental disabilities, 2009 · doi:10.1016/j.ridd.2008.10.007