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Histidinaemia. Part III: Impact; a prospective study
Author(s) -
Coulombe J. T.,
Kammerer B. L.,
Levy H. L.,
Hirsch B. Z.,
Scriver C. R.
Publication year - 1983
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02338972
Subject(s) - bender gestalt test , proband , stanford–binet intelligence scales , prospective cohort study , pediatrics , pregnancy , medicine , abnormality , intelligence quotient , psychology , developmental psychology , clinical psychology , biology , psychiatry , cognition , genetics , projective test , psychoanalysis , mutation , gene
We describe a prospective study of histidinaemia. Probands and siblings ( n = 21) with typical histidinaemia in 16 families were ascertained by newborn screening; diagnosis was confirmed by appropriate investigations in each subject; none had been treated by low histidine diet. The median age of subjects with histidinaemia was 9.5 y (mean 10.0, SD 3.5, range 6‐18). Age‐matched sib‐pairs and their mothers were studied. IQ scores (Full Scale, Verbal and Performance Scores), Visual‐Motor Integration Performance (Bender Gestalt and Koppitz scores), Wide Range Achievement Test (Reading and Mathematics), school performance, and psychological history were evaluated, as well as the medical history (pregnancy, delivery, neonatal, post‐natal development). Findings were correlated with biochemical phenotype. CNS development in histidinaemic subjects (mean and distribution of scores) was normal; outlier values did not correlate with degree of histidinaemia. We can conclude that histidinaemia detected by newborn screening is a non‐disadaptive phenotype.