Autism in tuberous sclerosis complex.
Screen every child with tuberous sclerosis for autism, especially if they had infantile spasms or low IQ.
01Research in Context
What this study did
Doctors looked at kids who have tuberous sclerosis. They wanted to know how many also have autism.
They checked each child’s records. They noted who had seizures as babies and who had low IQ scores.
What they found
Four out of ten kids with tuberous sclerosis also met criteria for autism.
The autistic group was more likely to have had infantile spasms and mental retardation.
Their close relatives showed higher rates of social phobia and substance abuse.
How this fits with other research
Hatton et al. (2004) later proved autism can be spotted reliably by age two. The 1998 paper set the stage by saying every TSC child deserves that early look.
Capio et al. (2013) pushed the timeline even earlier, showing fussy, hard-to-soothe babies in high-risk families often go on to an autism diagnosis. Together the three papers form a ladder: screen TSC early, watch infant temperament, confirm by age two.
Norrelgen et al. (2015) used the same case-series method in general preschoolers and found one quarter still lacked phrase speech after two years. Both studies flag cognitive level as the key divider inside autism, strengthening the call to assess IQ along with language.
Why it matters
If a client has tuberous sclerosis, schedule an autism screen now, even if the child looks social. Track any history of infantile spasms and current IQ. These two markers tell you which kids need intensive ABA and which may need medical follow-up before behavior work can progress.
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02At a glance
03Original abstract
The frequency and clinical presentation of autism in 28 probands with tuberous sclerosis complex (TSC) are reported and risk factors that may influence the development of autism in TSC are examined. Eight probands meet ICD-10 and DSM-IV criteria for autism, an additional 4 meet criteria for pervasive developmental disorder (PDD). Twelve TSC probands with autism/PDD are compared to 16 TSC probands without these conditions for factors which may underlie the association of autism and TSC. A specific seizure type, infantile spasms, as well as mental retardation, are increased in the TSC, autistic/PDD group. Furthermore, rates of social phobia and substance abuse are elevated among first-degree relatives of TSC probands with autism compared to first-degree relatives of TSC probands without autism. Implications of these findings in understanding the association of autism and TSC are discussed.
Journal of autism and developmental disorders, 1998 · doi:10.1023/a:1026032413811