Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.

Uwineza, Annette; Hitayezu, Janvier; Jamar, Mauricette; Caberg, Jean-Hubert; Murorunkwere, Seraphine; Janvier, Ndinkabandi; Bours, Vincent; Mutesa, Leon

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX, del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA.

RWANDA; RWANDANS; PEDIATRIC respiratory diseases; HUMAN abnormalities; COGNITIVE ability; DOWN syndrome; TRISOMY 13 syndrome; PATIENTS; DIAGNOSIS of Down syndrome; CHROMOSOME abnormalities; CHROMOSOMES; CYTOGENETICS; DEVELOPMENTAL disabilities; KARYOTYPES; PEOPLE with intellectual disabilities; ACTIVITIES of daily living; MULTIPLE human abnormalities; DIAGNOSIS

Journal of Tropical Pediatrics, 2016, Vol 62, Issue 1, p38

0142-6338

Academic Journal

10.1093/tropej/fmv065