[Clinical heterogeneity of the autistic syndrome: a study of 60 families].
Sixty families ascertained through a single proband, has helped to better define infantile autism as a heterogeneous group of disorders. Forty four patients showed a characteristic facio- auricular dysplasia. Twenty four of these, showed increased pyruvate and lactate and laboratory findings of metabolic acidosis i.e., anion gap above 18 mEq/L or serum bicarbonate below 21 mEq/L but only nine of these probands demonstrated reduction of plasma bicarbonate below 18 mEq/lt. Plasma amino acids in 17 probands and matched controls showed increased taurine with the rest of amino acids significantly (p less than 0.05) below the control level. Glutamate and aspartate were also significantly elevated (p less than 0.05; Student t-test). Segregation analysis in thirty four of these families which linked through at least one ancestral family name, suggested autosomal recessive inheritance (p = 0.20). Three out of eight probands who received megadoses of pyridoxine (Vitamin B6), subjectively gained in language abilities, affectivity and response to behavior modification therapy. Five autistic patients proved to have clinically defined syndromes: two with the Martin-Bell syndrome, and three girls affected respectively with the Rett syndrome, phenylketonuria and dicarboxylic aciduria.
Moreno
H
H
Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
Borjas
L
L
Arrieta
A
A
Sáez
L
L
Prassad
A
A
Estévez
J
J
Bonilla
E
E
D000138:Acidosis / Q000150:complications; D000596:Amino Acids / Q000097:blood; D001321:Autistic Disorder / Q000145:classification* / Q000150:complications / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D001521:Behavior Therapy; D002648:Child; D003241:Consanguinity; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005600:Fragile X Syndrome / Q000150:complications; D006801:Humans; D015994:Incidence; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications; D009974:Orthomolecular Therapy; D010641:Phenotype; D013577:Syndrome; D026681:Vitamin B 6 Deficiency / Q000150:complications
D000596:Amino Acids