ABSTRACT
Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 µg/L), AOA2 (15-65 µg/L) and AT (>65 µg/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.
Subject(s)
Apraxias/congenital , Ataxia Telangiectasia/blood , Ataxia Telangiectasia/diagnostic imaging , Cogan Syndrome/blood , Cogan Syndrome/diagnostic imaging , Multimodal Imaging , alpha-Fetoproteins/metabolism , Adolescent , Adult , Apraxias/blood , Apraxias/diagnostic imaging , Apraxias/genetics , Ataxia Telangiectasia/genetics , Child , Child, Preschool , Cogan Syndrome/genetics , Female , Humans , Male , Middle Aged , alpha-Fetoproteins/geneticsABSTRACT
OBJECTIVE: To survey knowledge, attitudes, and practices regarding water use and infant feeding in the Koumassi District of Abidjan, Côte d'Ivoire, and to evaluate the microbiologic quality of source and stored drinking water. DESIGN: Random-cluster household survey. METHODS: We randomly selected 20 clusters, each comprising six households with at least 1 child aged < or =3 years. In each household, we administered a questionnaire and collected source and stored drinking water samples and tested these for chlorine levels and for total coliform and fecal bacteria count ( Escherichia coli ). RESULTS: Municipal water was used for drinking in 112 (93%) of 120 households, and in 99 (83%), it was stored for later use. By 1 month of age, 97 (90%) of 108 infants given drinking water were given stored water for drinking. In 8 (66%) of 12 households where children were receiving artificial feeding, formula was prepared from municipal water without additional treatment. Stored water had lower levels of free chlorine than source water (median of 0.05 versus 0.2 mg/dl; p <.001), and E. coli was detected in 36 (41%) of 87 stored water samples and 1 (1%) of 108 source water samples ( p <.001). CONCLUSIONS: In the Koumassi District of Abidjan, where municipal water is widely available and of good quality, drinking water is stored in most households, is often contaminated with E. coli, and is given to children at a young age. If replacement feeding is to be more widely used to prevent postnatal transmission of HIV-1, communities using stored water need interventions to make stored water safer.