“And autistic traits”, “with some autistic-type behaviours”, “some particular fixations on certain interests”, “autistic speech”. These are expressions we frequently hear from parents during genetic counselling when they describe the clinical features of their young child, usually referred because of cognitive or developmental delay, ranging from mild to profound. Sometimes, additional features are present: minor
Some children develop more slowly than expected. They may sit later.Walk later.Speak later. Sometimes they even regress after an initial period of apparently normal development, losing skills they had already acquired. Months become years. Physiotherapy.Speech therapy.Neurology.Brain MRI.Blood tests. Yet one question remains unanswered: Why is this happening? Developmental delay is a clinical presentation that may
Fever returns every few weeks. Blood tests are repeated. Antibiotics, steroids or anti-inflammatory treatments may provide temporary improvement. Yet the same question keeps coming back: Why does this continue to happen? In some patients, recurrent fever is caused by inherited autoinflammatory disorders such as Familial Mediterranean Fever (MEFV), TRAPS (TNFRSF1A), Mevalonate Kinase Deficiency (MVK) or
