Why and how to assess the aetiological diagnosis of children with intellectual disability/mental retardation and other neurodevelopmental disorders: description of the Finnish approach.

One of the most important tasks of a physician who has patients with delayed development is to assess the cause of the problem. To help with this work, an aetiological classification based on timing and type of the injury to the central nervous system (CNS), has been created. The main divisions are: genetic causes; CNS malformations and multiple malformation syndromes of unknown origin; external prenatal factors; paranatally acquired disorders (-1 to +4 weeks from delivery); postnatally acquired disorders; and untraceable or unclassified causes. In the classification, the earliest factor injuring the CNS is the primary diagnosis. The first stage, which consists of a quite simple workup, reveals the timing of the injury and allows the possibility for family counselling. The overview of the second stage assessment is also given. The 'aetiological tree' illustrates the classification method and serves as a reference and teaching aid. It can also be used for genetic counselling to demonstrate the situation. This method has been used for almost 20 years and has been proven to enhance diagnostic activity and family counselling.

Serum lipids and lipoproteins during therapeutic amenorrhea induced by lynestrenol and depot-medroxyprogesterone acetate.

Serum concentrations of total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglyceride (TG), apolipoprotein A1 (Apo A1), and apolipoprotein B (Apo B) were determined in mentally handicapped subjects (n = 87). 33 women were on lynestrenol 5-10 mg for therapeutic amenorrhea (TA). 18 of them were randomly allocated to continue on lynestrenol and 15 were switched to intramuscular administration of medroxyprogesterone (DMPA). The switch to DMPA resulted in significant increases in HDL-C (33%), Apo A1 (12%), as well as in the HDL-C/LDL-C (48%) and Apo A1/Apo B (22%) ratios. The concentrations of HDL-C and Apo A1 were significantly greater in patients receiving DMPA, than in patients continuing with lynestrenol therapy. The amenorrhea incidence, however, did not differ between the two therapy groups. It is concluded that therapy with DMPA may be associated with smaller atherosclerosis risk than with peroral lynestrenol, because of its weaker effect on HDL-C and A1 levels.

The effect of peroral lynestrenol on serum lipids and lipoproteins in therapeutic amenorrhea of mentally retarded women.

Serum concentrations of total cholesterol, high-density lipoprotein cholesterol (HDL-C), apolipoprotein A1 (Apo A1), apolipoprotein B (Apo B), and triglyceride (TG) were measured and that of low density lipoprotein cholesterol (LDL-C) calculated in blood samples obtained from mentally handicapped women undergoing therapeutic amenorrhea (TA) induced by 5-10 mg of peroral lynestrenol, some receiving, some not receiving simultaneous anticonvulsant therapy (phenytoin, carbamazepine or barbiturate, alone or in combination). In addition, these analyses were carried out in women receiving only anti-convulsants and in controls (mentally handicapped women not receiving any of the above-mentioned medications). Significantly lower HDL-C, Apo A1, TG and cholesterol concentrations were measured in TA patients receiving lynestrenol only, than in those receiving anticonvulsants only, or in controls (p less than 0.001). With regard to HDL-C and Apo A1, patients receiving both lynestrenol and anticonvulsants were intermediate between lynestrenol only patients and controls, but the HDL-C/LDL-C and Apo A1/Apo B ratios were similar to those observed in lynestrenol only patients. Addition of 8 or 12 mg of estriol succinate to the lynestrenol regimen was virtually without an effect. However, halving of the lynestrenol dose resulted in a significant increase in HDL-C and in the HDL-C/LDL-C and Apo A1/Apo B ratios (p less than 0.001 or p less than 0.01), respectively. The lynestrenol dose was thus the most important determinant of lipoprotein pattern and should be kept as small as possible in order to reduce cardiovascular risk.