Fragile X syndrome is the most common inherited cause of intellectual disability and autism. It particularly affects males, with an average frequency of one case every six thousand births. But in the past forty years, fewer than one in three patients have been correctly diagnosed.
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The impressive data comes from the United States, where researchers have estimated a missed or incorrect diagnosis for 72% of people born with this rare disease, also called Martin Bell syndrome, characterized by developmental delay, learning difficulties, problems. relational and behavioral. This especially in girls, where the syndrome manifests itself in a milder form, but also in all those people with autism and cognitive delays who have not had access to the genetic test.
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To calculate the gap between overt and undiagnosed cases, the researchers analyzed 3.8 million electronic records. Based on the statistics, the expected number of cases was 435 individuals (256 males and 179 females). However, only 142 men and 38 women were clinically diagnosed. “The diagnosis rate was 28.06%, which means that 71.94% of individuals with the syndrome did not receive a correct diagnosis, particularly among women,” says Dr. Arezoo Movaghar of the University of Wisconsin Waisman Center, lead author of the study just published in Jama Network Open.
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“The only way we have today to diagnose the fragile X syndrome is a genetic blood test, the cost of which in Italy is around 300 euros – explains the doctor. Maria Cristina Digilio, head of medical genetics of the Bambino Gesù hospital in Rome -. The pathology is identifiable before birth with amniocentesis or CVS, while the Nipt test on fetal blood is not sufficient. Today we can diagnose many more cases than in the past, but unfortunately also in Italy it depends on the region and the city where you live, as well as on the severity of the symptoms. There are about a hundred laboratories in our country capable of performing the test that must be requested by the child neuropsychiatrist, who can intercept the first symptoms as early as around 18-24 months of the child, such as hypotonia and language deficit “.
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As the Observatory of rare diseases recalls, this syndrome “is mainly considered a pediatric condition and this entails the almost total absence of centers specialized in the assistance of adults”. This means that even all the missed diagnoses of the last decades are never intercepted. The only exception is the Day Hospital of the Gemelli Center for Aging Medicine in Rome, where adults are also subjected to a series of tests aimed at identifying the mutation and treating the symptoms.
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Martin Bell syndrome is caused by a mutation in the Fmr1 gene, found on the X chromosome, which prevents the production of a protein with a crucial role in the development of brain structures. The risk of giving birth to a child with fragile X syndrome therefore concerns subjects with a premutation or carriers, in particular women who, relying on a genetic makeup with two X chromosomes, can be asymptomatic.
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Those born with this chromosomal mutation generally show a delay in the various stages of neurological development. But the symptoms are so varied and extensive that they can be confused with other pathologies, from hyperactivity to concentration problems, autism spectrum disorders to anxiety. Some diseases associated with fragile X can also be decreased hearing related to recurrent ear infections, epilepsy, and mitral valve prolapse. But even if drug therapies are being studied, to date there is no specific cure. If diagnosed, the syndrome is in fact managed with a multidisciplinary approach based on psychomotor therapy, speech therapy, cognitive-behavioral therapy and school support.
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As the University of Wisconsin researchers write, “The diagnosis of fragile X is challenging due to its clinical heterogeneity, the absence of obvious physical characteristics at birth, and the similarity of phenotypes to other conditions. Today it is recommended for all individuals. with developmental delay, intellectual disability or autism of unknown cause to perform the genetic test, however, only a small fraction have access to the test. It is widely believed that this syndrome is underdiagnosed everywhere, with substantial challenges for patients and their families”.
“Here in Italy as in the rest of the world, no newborn screening is performed, and the main reason is the cost of the exam – concludes the geneticist. Maria Cristina Digilio -. Genetic counseling is usually sought when there is an overt delay in development. “Reasons why American researchers are calling on specialists around the world for” a broader screening, not only in infants but also in parents, in order to accelerate the diagnostic process and facilitate patients’ access to targeted interventions and care services “.