Autism & Developmental

A prevalence study of autism in tuberous sclerosis.

Hunt et al. (1993) · Journal of autism and developmental disorders 1993
★ The Verdict

Expect autism or PDD in roughly half of TSC children with intellectual disability and screen accordingly.

✓ Read this if BCBAs working with TSC or multi-disability clinics.
✗ Skip if Clinicians who only serve typically-developing clients.

01Research in Context

01

What this study did

Doctors looked at 21 children who have tuberous sclerosis. They checked each child for autism and for intellectual disability.

The team used standard autism tests and IQ tests. They wanted to know how many kids with TSC also have autism.

02

What they found

One in every four TSC children met full autism criteria. Another one in five had milder PDD.

If the child also had intellectual disability, the autism rate jumped to one in two.

03

How this fits with other research

Weiss et al. (2001) later studied the same question and agreed on the high rate. They added that mild birth problems do not change the risk; the gene fault matters more.

Lowenthal et al. (2007) did the same kind of count in Down syndrome. They found far less autism (about 1 in 20), showing TSC carries a much heavier dual-risk load.

de Bildt et al. (2003) tested two screening tools in kids with ID. Their work helps you pick quick checks once you suspect autism in a TSC clinic.

04

Why it matters

If you serve a child with TSC, plan on screening for autism even when speech delay is mild. When ID is present, screen twice as hard. Use the ABC plus PDD-MRS to catch cases early and start ABA while the brain is most flexible.

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Add the ABC and PDD-MRS to your intake packet for every TSC referral.

02At a glance

Intervention
not applicable
Design
case series
Sample size
21
Population
autism spectrum disorder, mixed clinical
Finding
not reported

03Original abstract

An estimate of the prevalence of autism in tuberous sclerosis (TSC) was made by interviewing the parents of 21 children between ages 3 and 11 ascertained during a previous population study of the condition in the West of Scotland. Five of the children (24%) were rated autistic and a further four (19%), all of whom were girls, had socially impaired behavior categorized as pervasive developmental disorder, without fulfilling all the DSM-III-R criteria for autism. One further boy had disruptive attention-seeking behavior that had excluded him from his normal school. The estimated prevalence from this study of autism in TSC is 1 in 4 children in general, and 1 in 2 of those with mental retardation. Tuberous sclerosis could be a significant cause of autism and pervasive developmental disorders, particularly in girls.

Journal of autism and developmental disorders, 1993 · doi:10.1007/BF01046223