| Abstrakt: |
Background: Many genetic diseases have multisystem involvement and when they are associated with neurological alterations, they represent chronic diseases with a worse prognosis. Objective: To evaluate the profile of patients with genetic diseases associated with neurological impairment treated at the genetics outpatient clinic of the Albert Sabin Children's Hospital (HIAS). Methods: Quantitative, descriptive, retrospective, observational study. From 2001 to 2022, 581 cases treated at the HIAS Medical Genetics Outpatient Clinic were randomly selected. The variables were sex, diagnosis, age, origin, consanguinity, prenatal care (with/without complications), type of delivery, gestational age, Apgar>7, birth weight, height, and head circumference, neurological development, neurological examination (altered/ normal), presence of seizure, death. Cases of microcephaly by Zika-virus, non-syndromic cleft lip and cleft palate, and phenylketonuria were excluded because they were in specific outpatient clinics. Results: 290 (50%) were female and 6 were of undetermined sex. Regarding the diagnosis, 57 (14%) were chromosomal disorders, 46 (12%) were neuromuscular diseases, 65 (16%) were metabolic diseases, 213 (54%) were monogenic syndromes, 12 (3%) were environmental etiology, 185 (32%) had no diagnosis. Age ranged from 1-330 months with a median of 165 months. 192 (36%) were from the capital. Consanguinity occurred in 77 (15%) cases; 139 (29%) had prenatal complications. 227 (51%) had a cesarean delivery. 58 (16.5%) had Apgar <7 in the first minute of life. 63 (23%) were premature. Birth weight ranged from 556-5,000g with a median of 2,778g, height from 31-55cm, with a median of 43cm, head circumference from 20-45.5cm with a median of 32.75cm; 406 (90.2%) had delayed neurodevelopmental milestones. In 352 (60.4%) the neurological examination was altered; 97 (16.6%) had seizures. The death occurred in 10 (1.8%) cases. Conclusions: There was no gender prevalence. Most of the cases evaluated were from the countryside, without perinatal complications, but had changes in developmental milestones and neurological physical examination. Consanguinity was prevalent and death occurred in a minority of cases. The most frequent pathologies in descending order were monogenic syndromes, inborn errors of metabolism, chromosomal disorders, and neuromuscular diseases. [ABSTRACT FROM AUTHOR] |
