Autism & Developmental

Brief report: peculiar evolution of autistic behaviors in two unrelated children with brachidactyly-mental retardation syndrome.

Mazzone et al. (2012) · Journal of autism and developmental disorders 2012
★ The Verdict

In BDMR syndrome, marked autism features can drop sharply by elementary years.

✓ Read this if BCBAs assessing young children with both autism and unusual physical traits.
✗ Skip if Clinicians whose caseloads lack genetic diagnoses or medical syndromes.

01Research in Context

01

What this study did

Mazzone et al. (2012) watched two unrelated preschoolers who had both autism and BDMR syndrome.

The team tracked the children's behaviors for five years with no special treatment plan.

They wanted to see if autism signs changed as the kids grew.

02

What they found

By elementary school, most autism features had faded in both children.

The kids still had developmental delay, but social and play skills looked far better.

The authors say this late improvement may be typical for autism tied to 2q37 deletions.

03

How this fits with other research

Konstantareas et al. (1999) first linked 2q37 loss to autism and called it a distinct subtype.

Mazzone et al. (2012) extends that work by showing the autism can lessen over time.

Green et al. (1986), Assumpcão Júnior (1998), and Richman et al. (2001) each found chromosomal changes in autistic clients, backing the rule: when you see autism plus unusual facial or hand features, order a genetic test.

04

Why it matters

If a client carries a 2q37 deletion, you can tell families that severe autism signs may ease by school age, even without intensive therapy.

Keep tracking social growth instead of assuming a lifelong plateau, and keep the genetic report in the file—it may explain future shifts in behavior.

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Flag any client with short fingers, small stature, plus autism for genetics consult and schedule long-term social-skills probes.

02At a glance

Intervention
not applicable
Design
case series
Sample size
2
Population
autism spectrum disorder, developmental delay
Finding
not reported

03Original abstract

Brachidactyly-Mental Retardation (BDMR) Syndrome (MIM 600430) is associated with terminal deletions at chromosome 2q37 and a limited number of studies also reported an association between 2q37 → qter deletion and autism. Herein we describe two cases of autism in unrelated children with BDMR Syndrome, showing physical, cognitive, behavioral, and disease natural history homologies, with a very prominent social impairment in the first 4 years of life. At follow-up evaluations, spanning a 5-years period, both children experienced a progressive reduction of the autistic symptoms, besides retaining compromised cognitive ability. This report supports the hypothesis that genes in the 2q37 region may contribute to the etiology of autism, leading, however, to a peculiar evolution of the disease, with symptoms severity decreasing over time.

Journal of autism and developmental disorders, 2012 · doi:10.1007/s10803-011-1432-5