Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism.
Rebecca A Mitchell, Francesca Lami, Sarah M Barton and 2 others
PMID 40051284WHAT IT FOUND
In children with tuberous sclerosis, autism was common, and autistic children had more intellectual disability, language deficits, executive dysfunction and externalizing behaviour.
ADHD symptoms were frequent in both groups. Formal language screening is warranted even without autism or intellectual disability.
Key findings
0156% of the children with tuberous sclerosis complex were autistic.
02Most children had language deficits: 71% core, 77% receptive, and 66% expressive.
03Autistic children had more intellectual disability than not-autistic children (79% vs 32%).
STILL TO COME
How it was doneWhat they foundWhat it means for OTsWhat it means for SLPs
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What it does not show
Only 50 children from one Australian hospital were included, and non-English-speaking children and children who could not attend in person were excluded, so results may not apply to all children with tuberous sclerosis complex. Subgroups were small, so the researchers did not adjust for intellectual disability when comparing outcomes; differences between autistic and not-autistic children may be influenced by how many autistic children had intellectual disability. Some children could not complete language or questionnaire assessments because of low language, behaviour, COVID-19 disruption or a recording error, so some findings are based on fewer than 50 children. Many children with severe intellectual disability could not be scored with standard language tools, so communication ability in that group is not well captured. The study was cross-sectional, so it describes the children at one time and cannot show how development changes over time or whether treatments help.
Declared interests
Funded by the Royal Children's Hospital Foundation through a donation from the Romios Family Foundation, and by named scholarships. Authors declared no conflicts of interest.
The easy way to misread this
Do not conclude that ADHD symptoms are mainly an autism feature in tuberous sclerosis complex. Inattention and hyperactivity/impulsivity were common in both autistic and not-autistic children, with no between-group difference.
Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →