Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome.
BFLs brings a friendly face plus possible impulsive or sexual behaviors you should screen early.
01Research in Context
What this study did
Tyrer et al. (2009) watched a small group of people with Börjeson-Forssman-Lehmann syndrome. This is a very rare genetic condition that causes intellectual disability.
They wrote down every behavior they saw. The team wanted to map a clear behavioral phenotype for BFLs.
What they found
Most people were friendly and happy. Some showed thrill-seeking and rule-breaking acts.
A few families reported hypersexual behaviors. The pattern varied, but the friendly core stood out.
How this fits with other research
Schneider et al. (2006) warned that Angelman syndrome phenotype claims rest on weak methods. Tyrer et al. (2009) use the same small-case design, so their BFLs map shares that weakness.
van Schrojenstein Lantman-de Valk et al. (2006) drew a one-boy profile for Roifman syndrome. Both papers show how tiny samples are normal when syndromes are ultra-rare.
Galéra et al. (2009) found no extra anxiety or disruptiveness in Rubinstein-Taybi kids. Tyrer et al. (2009) did see externalizing in BFLs, so the two syndromes differ on self-control even though both are rare and involve ID.
Why it matters
If you assess a child with BFLs, expect a warm social style but stay alert for impulsive or sexual behaviors that can surprise families. Track data on thrill-seeking and rule-breaking so you can write solid behavior plans and train staff before problems grow.
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02At a glance
03Original abstract
BACKGROUND: Börjeson-Forssman-Lehmann syndrome (BFLs) is an X-linked inherited disorder characterised by unusual facial features, abnormal fat distribution and intellectual disability. As many genetically determined disorders are characterised not only by physical features but also by specific behaviour, we studied whether a specific behavioural phenotype exists in BFLs. METHODS: We studied in detail the behaviour of four molecularly proven BFLs patients, and reviewed available literature on BFLs specifically for behavioural characteristics. RESULTS: Behaviour in persons with BFLs is in general friendly, but can be challenging with externalising and thrill-seeking features. Social skills are good. However, variation among patients is wide. Three patients from a single family showed expressed hypersexual behaviour. This was not present in other patients. CONCLUSION: In BFLs a specific behavioural phenotype exists and in behaviour general is challenging besides a friendly habit. Within single families more problematic behaviour may occur. Further behavioural and molecular analysis of a larger group of patients is warranted to determine whether a genotype-behavioural phenotype correlation exists.
Journal of intellectual disability research : JIDR, 2009 · doi:10.1111/j.1365-2788.2009.01156.x