Autism & Developmental

Brief report: a case of chromosome 22 alteration associated with autistic syndrome.

Assumpcão Júnior (1998) · Journal of autism and developmental disorders 1998
★ The Verdict

Ring chromosome 22 can travel with autism, so genetic karyotyping is worth a look when other signs point that way.

✓ Read this if BCBAs serving school-age clients with autism plus unexplained cognitive delay.
✗ Skip if Clinicians whose caseloads already have clear genetic diagnoses.

01Research in Context

01

What this study did

Doctors looked at one 13-year-old boy who had autism. They checked his chromosomes and found a rare ring shape on chromosome 22.

The report simply describes the boy and the genetic finding. No therapy or test results are given.

02

What they found

The ring chromosome 22 was present alongside autistic behaviors. The authors say this match is worth noting.

They urge teams to order genetic karyotyping when autism is diagnosed.

03

How this fits with other research

Vollmer et al. (1996) saw the same ring 22 in a young adult, but that patient showed bipolar mood swings, not autism. Same chromosome, different outcome — so ring 22 can lead to more than one profile.

Konstantareas et al. (1999) screened 127 autistic children and found several chromosomal changes. Their larger set shows the ring 22 case is part of a small, mixed group.

Green et al. (1986) first reported autosomal defects in four autistic clients, paving the way for later single-case notes like this one.

04

Why it matters

If you work with autistic clients who also have intellectual delay or unusual facial features, ask the pediatrician about a karyotype. Spotting a chromosomal cause won’t change your ABA plan, but it alerts the family to possible medical risks tied to that chromosome. You can also use the finding to explain why skills may progress on a different timeline.

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Flag any client with autism and ID for medical review of karyotype results.

02At a glance

Intervention
not applicable
Design
case study
Sample size
1
Population
autism spectrum disorder
Finding
not reported

03Original abstract

The author described a male patient, age 13 years and 5 months, with behavioral profile meeting the criteria of the autistic syndrome by the DSM-III-R (APA, 1989) and DSM-IV (APA, 1995). After clinical and laboratory examinations, it was found that he had an abnormal karyotype, 46 XY, R(22). The need for clinical and laboratory case studies of autism is of great importance to develop data for defining an etiological basis for diagnosis.

Journal of autism and developmental disorders, 1998 · doi:10.1023/a:1026025606967