Community genetics · 1999
Etiological characterization of 512 severely mentally retarded institutionalized patients in havana.
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Lantigua-Cruz A, Mora F, Arechaederra M, Rojas I, Morales E, Rodríguez H, Viñas C, Noa C E, Barrios B
Аннотация
OBJECTIVE: To investigate etiological factors in severe mental retardation (SMR).
METHODS: An etiological study is presented of 512 SMR patients in five specialized institutions in Havana.
RESULTS: Prenatal, perinatal and postnatal causes were apparent in 58.0, 24.8 and 11.1% of the patients, respectively; infantile psychosis was determined in only 0.4%. The remaining 5.6% were classified as having SMR of undeterminable origin, i.e. patients with apparently normal pre-, peri- and postnatal histories who had neither dysmorphism nor affected first-degree relatives, and had a normal karyotype and metabolic screen. Among prenatal causes, genetic factors were the most frequent (82.8%), while environmental factors were apparent in only 5.3% of these cases. Of the cases with prenatal genetic etiology, chromosomal aberrations were present in 86.5% (Down syndrome 96.2% and 3.7% other chromosomal aberrations), monogenic disorders in 11.3% [neurocutaneous diseases (32.1%) and fragile X syndrome (25%) were the most frequent], and multifactorial disorders in 2.0%. Thirty-five patients (11.7%) presented multiple congenital anomalies of 'prenatal unknown' causes. The latter group may include unidentifiable chromosomal aberrations, uniparental disomy, de novo mutations and multifactorial or teratogenic factors.
CONCLUSION: Accurate determination of the etiology of SMR is important not only for genetic counseling purposes, but also in identifying prenatal events which make infants more vulnerable to perinatal risk factors.
METHODS: An etiological study is presented of 512 SMR patients in five specialized institutions in Havana.
RESULTS: Prenatal, perinatal and postnatal causes were apparent in 58.0, 24.8 and 11.1% of the patients, respectively; infantile psychosis was determined in only 0.4%. The remaining 5.6% were classified as having SMR of undeterminable origin, i.e. patients with apparently normal pre-, peri- and postnatal histories who had neither dysmorphism nor affected first-degree relatives, and had a normal karyotype and metabolic screen. Among prenatal causes, genetic factors were the most frequent (82.8%), while environmental factors were apparent in only 5.3% of these cases. Of the cases with prenatal genetic etiology, chromosomal aberrations were present in 86.5% (Down syndrome 96.2% and 3.7% other chromosomal aberrations), monogenic disorders in 11.3% [neurocutaneous diseases (32.1%) and fragile X syndrome (25%) were the most frequent], and multifactorial disorders in 2.0%. Thirty-five patients (11.7%) presented multiple congenital anomalies of 'prenatal unknown' causes. The latter group may include unidentifiable chromosomal aberrations, uniparental disomy, de novo mutations and multifactorial or teratogenic factors.
CONCLUSION: Accurate determination of the etiology of SMR is important not only for genetic counseling purposes, but also in identifying prenatal events which make infants more vulnerable to perinatal risk factors.