A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated medical disorders or associated disorders of known or suspected genetic origin were found in 12.3 percent, including tuberous sclerosis, Down syndrome, fragile X syndrome, Klinefelter syndrome, XYY syndrome, chromosome 17 deletion, chromosome 46, XX, dup(8) (p) and mitochondriopathy. Other associated medical disorders identified were epilepsy, hydrocephalus, foetal alcohol syndrome and cerebral palsy. Hearing impairments were found in 8.6 percent and severe impairment of vision in 3.7 percent of the individuals with autistic disorder. Medical disorders seem to have a special impact on the genesis of autistic disorder and need to be thoroughly examined in each child with autistic disorder.
Non-specific X-linked mental retardation is a heterogeneous group of disorders with an incidence of approximately 1 in 500 males. A recently identified gene in Xq12, encoding a RhoGTPase-activating protein, was found to be mutated in individuals with mental retardation.
The role of serum fatty acid composition in neonatal jaundice was studied by comparing the incidence of jaundice among 332 newborn infants receiving breast milk from mothers on a diet with either a low (0.1, n = 145) or a high (1.5, n = 187) polyunsaturated to saturated fatty acid (P/S) ratio. The diet was started immediately after delivery. The composition of fatty acids in the breast milk and sera of the mothers and in the sera of the newborns was evaluated from a random sample of 15 mother-newborn pairs on the control diet (low P/S ratio) and 19 pairs on the experimental diet. Five days after delivery the relative amounts of fatty acids, especially that of linoleate, in the sera of the mothers differed significantly depending on the diet. Differences were also observed in breast milk samples taken three, four or five days after delivery and in the sera of the newborns sampled at the age of four or five days. Nine of the 145 newborn infants (6.2%) in the control group had to be treated with light therapy compared with 12 out of 187 (6.4%) of the newborn infants in the experimental group (high P/S ratio). Serum bilirubin concentrations were 142.5 mumol/l (SD 65.8) and 140.7 mumol/l (SD 73.5) in the experimental and control groups, respectively, at the age of five days. It appears that the changes in the composition of serum fatty acids reached in this study had no effect on the neonatal jaundice.
To determine the effect of oral administration of thyrotropin-releasing hormone (TRH) on the thyroid function and on the composition of breast milk in the early puerperium, six lactating women were treated with a single dose of 40 mg of synthetic TRH and six women were treated with placebo. Serial serum samples taken before and between one and 25 hours after TRH administration were assayed with specific radioimmunoassays for thyrotropin (TSH), triiodothyronine (T3) and total thyroxine (T4). Milk samples were collected three times a day and their major fatty acids were determined by gas-liquid chromatography and were compared with those obtained from normal lactating women. A statistically significant TSH elevation was observed between one and six hours after TRH administration, with a peak value of 23.7 +/- 10.6 mU/liter at three hours. The T3 concentration rose between three and nine hours after TRH administration, with a peak of 6.3 +/- 1.2 nmole/liter at six hours. The T4 elevation was statistically significant between six and 12 hours after TRH administration. The fatty acid content of milk samples from women treated with TRH did not differ from the normal series. A single daily dose of oral TRH thus caused a temporary thyroid stimulation. It is doubtful whether this could lead to hyperthyroidism since the levels of thyroid hormones became normal within ten hours after TRH administration.
A complex and unique, apparently balanced translocation involving No. 1 long arm and No. 10 short and long arm, segregated in a family and produced an unbalanced progeny with recombination of t(10) translocation chromosome during paternal meiosis.
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