Abstract:
Background and aim: Down syndrome (trisomy 21) is an inherited disorder caused by a congenital chromosomal abnormality caused by the presence of an extra chromosome for the 21st pair. The incidence is about 1 in 770 births, all pregnancies combined, and varies according to the age of the mother, which remains the only known risk factor to date. In addition to its clinical appearance and physical disorders, Down syndrome is the cause of multiple cognitive disorders and neurological problems.
Our aim is to study the different neurological and cognitive complications associated with Down syndrome.
Methods: This was a retrospective study of 26 children aged 3 to 6 years, diagnosed with Down syndrome. The evaluation was done by specific tests (electroencephalogram, auditory evoked potential, visual evoked potential, psychic tests) used when interpreting IQ test results with this particular group.
Results: Of the 26 children with Down syndrome, 15 were born to mothers aged 38 to 43, which represents 57.7% of the cases. The diagnosis of trisomy 21 was confirmed by karyotype in 21 children. Specific axial hypotonia was the cause of motor delay in 65% of cases, with direct repercussions on psychological development. Behavioral disorders and attention deficit disorder were diagnosed in 34% of cases. Seizures were present in 17 children dominated by infantile spasms (West syndrome), reflex seizures, and complex febrile seizures.
Language delay was present in 77% of cases in both cases and was related to sensorineural hearing loss. 54% of cases presented with visual disturbances dominated by refractive disorders, strabismus and nystagmus. 96% of the cases were diagnosed with mental retardation with an IQ between 52 and 70.
Conclusion: Well beyond the mental disability and the particular phenotype that characterize it, Down syndrome has a number of comorbidities, neurological complications, neurosensory damage and behavioral disorders are nonetheless significant. The management of these complications requires the application of a program of screening, treatment and regular follow-up.