Genetic studies in mental subnormality.

Date:
1973
Catalogue details

Licence: Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

Credit: Genetic studies in mental subnormality. Source: Wellcome Collection.

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    FAMILIES WHERE SIBLINGS HAVE SIMILAR BIOCHEMICAL DISORDERS 69 normality. Serum cholesterol 125 mg./ioo ml. Protein bound iodine 4 • 9 /xg./iooml. E.E.G. (at age 10): immature pattern. Marked sensitivity to photic stimulation pro¬ ducing generalized 3-6 c/s spike and wave discharges. Bone age is 9 years and the long bones show severe osteoporosis. An accessory ossicle is present on the ulnar aspect of the carpal bones. Barium meal shows no evidence of hiatus hernia, moderate gaseous distension of small and large bowel with the appearance of chronic constipa¬ tion but no evidence of Hirschsprung's disease. Inheritance : The occurrence of dwarfism and mental defect in the mother raises the possibility that inheritance was autosomal dominant. However, since it is not proven that the condition of the mother was the same as that of the affected siblings, neither an autosomal recessive inheritance nor an X-linked disorder can be excluded. Family 12—Progressive cerebral degeneration with ataxia, cataracts, scoliosis, arachnodactyly, anomaly of femora, consanguinity The sibship consists of a boy (index case 26) aged 20, who died from an accident, a sister (index case 25) aged 27 and a normal step¬ sister with two normal sons. The parents are first cousins and normal. The father had eight siblings, four of whom are well and four dead from unrelated causes. Of three paternal cousins, one has Down's syndrome, one has an adreno¬ genital syndrome and one is normal. The paternal grandmother had cataracts. Their mother had seven siblings of whom five are well ; of the maternal cousins one died from congenital heart disease and one from pneumonia. The boy (index case 26) was premature, weighing 2 • I kilo at birth. He had an operation for bilateral cataracts at the age of 2. He was noted to be backward at 4 and had a mental age of less than 3 years at 5 J years of age. By the age of g he had lost the ability to speak. At this time he was severely ataxic and almost blind, with muscular wasting, scoliosis and exaggerated tendon reflexes. He was restless and was a habitual head banger. No biochemical investigations were performed at this time. X-ray of hips revealed abnormally large heads and necks of the femora. He died in 1952 following an accident. The sister (index case 25) was born at full term weighing 2 • 9 kilo. She progressed normally until the age of 2 years when she developed ataxia and spasticity of the legs. Major epilepsy occurred in early childhood, but has now ceased. Speech was lost and there has been progressive deterioration of intellect and of the neurological abnormalities. Her right lens is disorganized following needling of a cataract. The I.Q,. is now unascertainable. She has extreme wasting, quadriplegia, contractures, scoliosis, chest deformity, mild arachnodactyly (metacarpal index 10) and a flash of fair hair in the left frontal area. Biochemical investigations have revealed no abnormality. X-ray of hips showed marked osteoporosis and flattening of the femoral heads. Inheritance : Autosomal recessive. Family 14—Dwarfism, prognathism, retarded sexual development, fair hair, long arms The sibship consists of an imbecile brother (died aged 5) ; a brother (died at birth) ; a brother, idiot (died aged 20) ; normal twin sisters (aged 29) ; a brother (aged 28) who is normal except for antisocial behaviour; twins (aged 26) consisting of a normal sister and a brother who had antisocial behaviour in childhood; a brother (index case 29) aged 21 and a brother (index case 30) aged 18. The parents were believed to be normal and unrelated. Births were spontaneous and at full term. The elder was noted to be abnormal at birth and the younger in early infancy. I.Q^.s have not been assessed but mental ages, are about i year. They appear contented and normally lie in a foetal posture. Heights 139*7 cm. and 125*7 cni. ; weights appropriate for heights. Skull circumferences. 54 • о cm. and 50 • 8 cm. The elder (index case 29) has scanty pubic hair and descended testicles, of normal size; the younger (index case 30)