How is the Dias-Logan syndrome diagnosed?
Understanding the diagnostic pathway
The diagnosis of Dias-Logan syndrome (BCL11A-IDD) is often a key moment in a family's journey.
It helps to put words to difficulties observed in the child, but it is also part of a long process, made up of questions, examinations, and sometimes uncertainties.
Each journey is unique, and diagnosis can occur at different ages depending on the child.
A genetic diagnosis
Dias-Logan syndrome is a genetic disease linked to an abnormality of the BCL11A gene.
His diagnosis is based primarily on genetic analysis, carried out using a blood sample.
This analysis makes it possible to identify a variation of the BCL11A gene, thus confirming the diagnosis.
In the majority of cases, this anomaly appears spontaneously (so-called "de novo" mutation), without being inherited from the parents.
The genetic tests used may include:
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exome sequencing (analysis of a large number of genes)
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panels of genes related to neurodevelopment
These tools now make it possible to identify syndromes that were previously difficult to diagnose.
A diagnosis that is sometimes late or difficult
Before reaching a diagnosis, many families go through a period of uncertainty.
The first signs may be subtle or nonspecific:
developmental delays, speech difficulties, behavioral problems, hypotonia...
These manifestations may initially be attributed to other causes, which can delay the identification of the syndrome.
It is not uncommon for several consultations, assessments and medical opinions to be necessary before obtaining an accurate diagnosis.
