Consultant Nephrologist Exeter Kidney Unit 150521 Most people with HNF1B whole gene deletion have large 17q12 deletion 17q12 deletion not initially thought to be associated with neurodevelopmental disorders ID: 999110
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1. HNF1B and the brainDr Rhian ClissoldConsultant Nephrologist, Exeter Kidney Unit15/05/21
2. Most people with HNF1B whole gene deletion have large 17q12 deletion
3. 17q12 deletion not initially thought to be associated with neurodevelopmental disorders
4. AimTo compare neurodevelopmental features of people with either an HNF1B mutation or large gene deletionTo see if having only one copy of the HNF1B gene is the cause
5. MethodsIndividuals recruited from four sites in UKTotal=38Clinical evaluationReview of medical records and participant/parent interviewBrief behavioural screening: Strengths and Difficulties Questionnaire (SDQ)Autistic traits: Autism Spectrum Quotient (AQ)Cognitive ability: Kaufman Brief Intelligence Test
6. Brief behavioural screeningCarried out in 4-16 year olds using the SDQ (total=14)Questionnaire completed by parents and included 25 items on psychological attributes covering 5 areas:1) emotional symptoms2) conduct problems3) hyperactivity/inattention4) peer relationship problems5) prosocial behaviourAn impact supplement was also administered
7. Higher levels of difficulties and impact in children with a deletion
8. Clinical diagnosis
9. Other findingsLarge deletions were associated with more autistic traitsIQ was similar in both HNF1B mutation and deletion groups
10. SummaryNeurodevelopmental features only seen in individuals with a deletionHaving only one copy of HNF1B gene not the causeEnsure referral for appropriate psychological assessment if concerns arise
11. LimitationsNot everyone wanted to participateExact prevalence and scope of neurodevelopmental involvement remains unknownDiagnostic tests for autism/ADHD not used Less severe involvement may have been missedGenetic screening for other causes not carried out
12. Update
13. Total=180, average age=9.6 years119 children with deletion, 61 with mutationSpecial educational needs:12.7% of children with an HNF1B deletion3.6% of children with an HNF1B variant~90% of children carrying an HNF1B mutation or deletion have a normal schooling in a general educational environmentThese results should be taken into account in prenatal counselling
14. Questions?