Autism & Developmental

Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion).

Antshel et al. (2007) · Journal of autism and developmental disorders 2007
★ The Verdict

In VCFS, an autism co-diagnosis hikes other psychiatric disorders to 94 % and links to a bigger right amygdala.

✓ Read this if BCBAs who assess or treat children with VCFS in clinic or school settings.
✗ Skip if Practitioners working solely with idiopathic autism and no genetic syndromes.

01Research in Context

01

What this study did

The team looked at kids who have both velo-cardio-facial syndrome (VCFS) and autism. They wanted to know if the double diagnosis changes the picture of other mental-health problems and brain shape.

They used brain scans and parent interviews to compare two small groups: VCFS plus autism, and VCFS without autism.

02

What they found

Almost every child with VCFS plus autism (94 %) also had another psychiatric diagnosis, such as ADHD or anxiety. In the VCFS-only group the rate was lower, about 60 %.

Brain scans showed a bigger right amygdala only in the autism group. Other brain areas looked the same between the two groups.

03

How this fits with other research

Merrill (2004) first mapped the wide behavioral profile of VCFS—high rates of ADHD, social withdrawal, and later schizophrenia risk. The new data narrow the lens, showing that adding autism pushes psychiatric comorbidity even higher.

Niklasson et al. (2009) counted 44 % of their larger 22q11 sample meeting criteria for ASD or ADHD, a figure that sits close to the 94 % comorbidity reported here. The numbers differ because Lena included ADHD alone, while M et al. counted any second diagnosis in kids who already had autism.

Furniss et al. (2011) later summarized cognitive strengths and deficits in VCFS but did not mention amygdala size. The current study adds a concrete neuroanatomic marker—enlarged right amygdala—that may help explain emotional-behavioral volatility in the ASD subgroup.

04

Why it matters

When a learner has VCFS, always screen for autism. If autism is present, expect almost every child to carry an extra psychiatric label and plan for multidisciplinary care. The enlarged right amygdala is a red flag you can share with medical teammates, but behaviorally, focus on the high chance of ADHD, anxiety, or mood symptoms that will need their own plans.

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Add autism screening to your intake for any client with known VCFS, and prep for likely ADHD or anxiety interventions.

02At a glance

Intervention
not applicable
Design
case series
Sample size
41
Population
autism spectrum disorder, mixed clinical
Finding
positive

03Original abstract

The extent to which the phenotype of children comorbid for velocardiofacial syndrome (VCFS) and autism spectrum disorders (ASD) differs from that of VCFS-only has not been studied. The sample consisted of 41 children (20 females) with VCFS, ranging in age from 6.5 years to 15.8 years. Eight children with VCFS met formal DSM-IV diagnostic criteria for autism based upon the ADI-R. These eight plus an additional nine participants met diagnostic criteria for an autistic spectrum disorder (VCFS + ASD). Ninety-four percent of the children with VCFS + ASD had a co-occurring psychiatric disorder while 60% of children with VCFS had a psychiatric disorder. Children with VCFS + ASD had larger right amygdala volumes. All other neuroanatomic regions of interest were statistically similar between the two groups.

Journal of autism and developmental disorders, 2007 · doi:10.1007/s10803-006-0308-6